Juvenile arthritis (JA) is arthritis that happens in children. It causes joint swelling, pain, stiffness, and loss of motion. It can affect any joint, but is more common in the knees, hands, and feet. In some cases it can affect internal organs as well.
The most common type of JA that children get is juvenile idiopathic arthritis. There are several other forms of arthritis affecting children.
One early sign of JA may be limping in the morning. Symptoms can come and go. Some children have just one or two flare-ups. Others have symptoms that never go away. JA can cause growth problems and eye inflammation in some children.
No one knows exactly what causes JA. Most types are autoimmune disorders. This means that your immune system, which normally helps your body fight infection, attacks your body's own tissues.
JA can be hard to diagnose. Your health care provider may do a physical exam, lab tests, and x-rays. A team of providers usually treats JA. Medicines and physical therapy can help maintain movement and reduce swelling and pain. They may also help prevent and treat complications.
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
| NCI2016_02D:An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system. | NCI2016_NICHD_1602D:An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system. HPO2016_07_04:HP:0005681|ICD10CM_2017:M08.0|OMIM2016_04_17:MTHU009729|SNOMEDCT_US_2016_09_01:156483006|SNOMEDCT_US_2016_09_01:201800005|SNOMEDCT_US_2016_09_01:201808003|SNOMEDCT_US_2016_09_01:239801005|SNOMEDCT_US_2016_09_01:268052008|SNOMEDCT_US_2016_09_01:410795001|SNOMEDCT_US_2016_09_01:86119004 C1336082 Thymic squamous cell carcinoma Epidermoid Thymic Carcinoma | Squamous Cell Carcinoma of Thymus | Squamous Cell Carcinoma of the Thymus | Thymic Squamous Cell Carcinoma | Thymus Squamous Cell Carcinoma NCI2016_02D:A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation. C1336874 Inverted papilloma of ureter Inverted Papilloma of Ureter | Inverted Papilloma of the Ureter | Ureter Inverted Papilloma | Ureteral Inverted Papilloma NCI2016_02D:A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria. C1567427 Bilateral multicystic dysplastic kidneys Bilateral Multicystic Dysplastic Kidneys MSH2017_2016_08_12:D021782 C0015558 Fallopian tube neoplasms Fallopian Tube Neoplasm | Fallopian Tube Neoplasms | Fallopian Tube Neoplasms [Disease/Finding] | Fallopian Tube Tumor | Fallopian tube neoplasm | Fallopian tube neoplasm NOS | Neoplasm of Fallopian Tube | Neoplasm of fallopian tube | Neoplasm of fallopian tube (disorder) | Neoplasm of the Fallopian Tube | Neoplasm, Fallopian Tube | Neoplasms, Fallopian Tube | Tumor of Fallopian Tube | Tumor of fallopian tube | Tumor of the Fallopian Tube | Tumour of fallopian tube | fallopian tube neoplasms | fallopian tube tumors | neoplasm of fallopian tube | neoplasm of fallopian tube (diagnosis) MSH2017_2016_08_12:Benign or malignant neoplasms of the FALLOPIAN TUBES. They are uncommon. If they develop, they may be located in the wall or within the lumen as a growth attached to the wall by a stalk. | NCI2016_02D:A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma. MSH2017_2016_08_12:D005185|SNOMEDCT_US_2016_09_01:126916003 C0234247 Atypical neuralgia Atypical Neuralgia | Atypical Neuralgias | Atypical neuralgia | Atypical neuralgia (diagnosis) | Atypical neuralgia (disorder) | Neuralgia, Atypical | Neuralgia, atypical | Neuralgias, Atypical | atypical neuralgia | neuralgia atypical MSH2017_2016_08_12:D009437|SNOMEDCT_US_2016_09_01:112102006 C0266836 Infantile colic Colic | Colic infantile | Colic, Infantile | Colic, infantile | Infant Colic | Infant colic | Infantile Colic | Infantile colic | Infantile colic (disorder) | Infantile colic (finding) | Infantile colic - symptom | Three month colic | Three-month colic | [D]Infantile colic | [D]Infantile colic (context-dependent category) | [D]Infantile colic (situation) | [D]Three month colic | colic infant | colic infantile | colic infants | colic; infantile | colics infantile | infant colic | infant; colic | infantile colic | infantile colic (diagnosis) NCI2016_02D:Paroxysms of irritability, fussing or crying that starts and stops without obvious cause in an infant up to four months of age without failure to thrive. Episodes last three or more hours per day for at least three days per week for at least on week.(NICHD) | NCI2016_NICHD_1602D:Consistent pattern of crying in a healthy infant between 3 weeks and 3 months of age. Often defined as lasting 3 hours a day more than 3 days a week for at least 3 weeks in a row. ICD10CM_2017:R10.83|MSH2017_2016_08_12:D003085|SNOMEDCT_US_2016_09_01:139310008|SNOMEDCT_US_2016_09_01:158503000|SNOMEDCT_US_2016_09_01:207209009|SNOMEDCT_US_2016_09_01:247360009|SNOMEDCT_US_2016_09_01:272042000|SNOMEDCT_US_2016_09_01:35363006 C0152131 Retinopathy, solar Eclipse retinopathy | Foveomacular retinitis | Retinopathy solar | Retinopathy, solar | Solar retinitis | Solar retinopathy | Solar retinopathy (disorder) | retinopathy; sun | solar retinopathy | solar retinopathy (diagnosis) | sun; retinopathy ICD10CM_2017:H31.02|ICD9CM_2014:363.31|SNOMEDCT_US_2016_09_01:1135000 C0030200 Pain, intractable Intractable Pain | Intractable Pains | Intractable pain | Pain, Intractable | Pain, Intractable [Disease/Finding] | Pain, Refractory | Pains, Intractable | Pains, Refractory | Refractory Pain | Refractory Pains | intractable pain | refractory pain MSH2017_2016_08_12:Persistent pain that is refractory to some or all forms of treatment. MSH2017_2016_08_12:D010148 C0021051 Immunologic deficiency syndromes Decreased immune function | Deficiency Syndrome, Immunologic | Deficiency Syndrome, Immunological | Deficiency Syndromes, Immunologic | Deficiency Syndromes, Immunological | Deficiency;immune | IMMUNODEFICIENCY | IMMUNOLOGIC DEFICIENCY | Immune Deficiency Disorders, Diseases and Syndromes | Immune deficiency | Immune deficiency disorder, disease or syndrome | Immuno-Deficiency | Immunodeficiency | Immunodeficiency (disorder) | Immunodeficiency Disorder | Immunodeficiency NOS | Immunodeficiency Syndrome | Immunodeficiency disease | Immunodeficiency disorder | Immunodeficiency disorder (disorder) | Immunodeficiency syndromes | Immunodeficiency, NOS | Immunodeficiency, unspecified | Immunodeficient | Immunologic Deficiency Syndrome | Immunologic Deficiency Syndromes | Immunologic Deficiency Syndromes [Disease/Finding] | Immunological Deficiency Syndrome | Immunological Deficiency Syndromes | Immunological deficiency syndromes | Syndrome, Immunologic Deficiency | Syndrome, Immunological Deficiency | Syndromes, Immunologic Deficiency | Syndromes, Immunological Deficiency | Unspecified immunity deficienc | Unspecified immunity deficiency | Unspecified immunity deficiency (disorder) | hypoimmunity | immune deficiency | immune deficiency disorder | immunodeficiencies | immunodeficiency | immunodeficiency disease | immunodeficiency disorder | immunodeficiency disorders | immunodeficiency disorders (diagnosis) | immunodeficiency syndrome | immunodeficiency syndromes CHV2011_02:partial or total loss of body's ability to fight diseases | CSP2006:deficiency of immune response or a disorder characterized by deficient immune response; classified as antibody (B cell), cellular (T cell), or combined immunodeficiency, or phagocytic dysfunction disorders. | MSH2017_2016_08_12:Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. | NCI2016_02D:A disorder in which the immune system is unable to mount an adequate immune response. | NCI2016_02D:Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. | NCI2016_FDA_1602D:A deficiency of immune response or a disorder characterized by deficient immune response. | NCI2016_NCI-GLOSS_1602D:The inability of the body to produce an immune response. | NCI2016_NICHD_1602D:A state in which the immune system is compromised or absent. May be primary (congenital) or secondary (acquired). HPO2016_07_04:HP:0002721|ICD10CM_2017:D84.9|ICD9CM_2014:279.3|MSH2017_2016_08_12:D007153|OMIM2016_04_17:MTHU007447|OMIM2016_04_17:MTHU032911|SNOMEDCT_US_2016_09_01:191005003|SNOMEDCT_US_2016_09_01:234532001|SNOMEDCT_US_2016_09_01:64431000 C4022654 Abnormal testosterone level Abnormal testosterone level HPO2016_07_04:HP:0030087 C0570577 Ranitidine allergy RANITIDINE ALLERGY | Ranitidine allergy | Ranitidine allergy (disorder) SNOMEDCT_US_2016_09_01:293653009 C0796093 Odontoonychodermal dysplasia Fadhil syndrome | ODONTOONYCHODERMAL DYSPLASIA | OODD | Odontoonychodermal dysplasia | odontoonychodermal dysplasia JABL99:A form of ectodermal dysplasia with hyperhidrosis, hyperkeratosis palmaris et plantaris, nail dystrophy, dry and sparse hair, facial erythema, peg-shaped incisors. and malformation of other teeth. Mild mental deficiency was reported in some cases. This condition is considered by some a specific form of a broad category of disorders involving dysplasia of skin appendages and teeth. MSH2017_2016_08_12:C537742|OMIM2016_04_17:257980|OMIM2016_04_17:606268 C0149940 Sciatic neuropathy NEUROPATHY, SCIATIC | Nerve Disease, Sciatic | Nerve Diseases, Sciatic | Neuropathies, Sciatic | Neuropathy, Sciatic | Sciatic Nerve Disease | Sciatic Nerve Diseases | Sciatic Neuropathies | Sciatic Neuropathy | Sciatic Neuropathy [Disease/Finding] | Sciatic nerve neuropathy | Sciatic nerve--Diseases | Sciatic neuropathy | Sciatic neuropathy (disorder) | disease (or disorder); nerve, sciatic | n.ischiadicus; neuropathic | neuropathy; sciatic nerve MSH2017_2016_08_12:Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363) MSH2017_2016_08_12:D020426|SNOMEDCT_US_2016_09_01:52585001 C0086241 Epilepsies, tonic Epilepsies, Tonic | Epilepsy, Tonic | Epileptic seizures - tonic | Epileptic seizures - tonic (finding) | Epileptic seizures, tonic | Tonic Epilepsies | Tonic Epilepsy | epilepsy; tonic | tonic; epileptic MSH2017_2016_08_12:D004829|SNOMEDCT_US_2016_09_01:192993002 C1857512 Temtamy syndrome Craniofacial Dysmorphism With Ocular Coloboma, Absent Corpus Callosum, And Aortic Dilatation | Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation | Dysmorphism, corpus callosum agenesis and colobomas | MENTAL RETARDATION WITH OR WITHOUT CRANIOFACIAL DYSMORPHISM, OCULAR COLOBOMA, OR ABNORMAL CORPUS CALLOSUM | TEMTAMY SYNDROME | TEMTYS | Temtamy syndrome MSH2017_2016_08_12:C536959|OMIM2016_04_17:218340|OMIM2016_04_17:615140 C0496784 Cancer endocrine pancreas Malignant neoplasm of endocrine pancreas | Malignant tumor of endocrine pancreas | Malignant tumor of endocrine pancreas (disorder) | Malignant tumour of endocrine pancreas | cancer endocrine pancreas | endocrine pancreas cancer | endocrine pancreatic cancer | malignant neoplasm of endocrine pancreas | malignant neoplasm of endocrine pancreas (diagnosis) | pancreatic endocrine cancer | pancreatic neoplasm malignant endocrine pancreas ICD10CM_2017:C25.4|SNOMEDCT_US_2016_09_01:254611009 C3152083 Epiphyseal dysplasia, multiple, 3, with myopathy EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY OMIM2016_04_17:120270|OMIM2016_04_17:600969 C1704275 Pyomyositis MYOSITIS, BACTERIAL, SPONTANEOUS | PYOMYOSITIS | Pyomyositis | Pyomyositis [Disease/Finding] | pyomyositis MSH2017_2016_08_12:An intramuscular suppuration of the large skeletal muscle groups. It is associated with INFECTION such as STAPHYLOCOCCUS AUREUS and PYODERMA. It was known as a tropical disease but is increasing among the immunocompromised (IMMUNOCOMPROMISED HOST). Symptoms include muscle pain, FEVER, and leucocytosis. It has been diagnosed by MRI SCANS. MSH2017_2016_08_12:D052880|SNOMEDCT_US_2016_09_01:65110003 C1334264 Intraspinal meningioma Intraspinal Meningioma | Meningioma of Spinal Canal and Spinal Cord | Meningioma of the Spinal Canal and Spinal Cord | Spinal Canal and Spinal Cord Meningioma NCI2016_02D:A meningioma that arises from the spinal meninges. C4073079 Photoreceptor layer loss on macular oct Photoreceptor layer loss on macular OCT HPO2016_07_04:Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography. [HPO:probinson] HPO2016_07_04:HP:0030609 C3151036 Chromosome 1p32-p31 deletion syndrome CHROMOSOME 1p32-p31 DELETION SYNDROME OMIM2016_04_17:613735 C2931058 Marfan syndrome type 2 Marfan Syndrome type 2 | Marfan like connective tissue disorder MSH2017_2016_08_12:C535911 C0548883 Low frustration tolerance Low frustration tolerance HPO2016_07_04:HP:0000744|OMIM2016_04_17:MTHU007294 C1845251 Facial hypotonia Decreased facial muscle tone | Facial hypotonia | Low facial muscle tone | Reduced facial muscle tone HPO2016_07_04:Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). [HPO:probinson] HPO2016_07_04:HP:0000297|OMIM2016_04_17:MTHU008212 C2827356 Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, or fgfr1 Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of PDGFRA, PDGFRB, or FGFR1 NCI2016_02D:A group of rare myeloid and lymphoid neoplasms characterized by rearrangement of the PDGFRA, PDGFRB, or FGFR1 genes, resulting in the formation of fusion transcripts and aberrant tyrosine kinase activity. Eosinophilia is a characteristic finding but it is not always present. C1400252 Parotid gland hypoplasia Hypoplasia of parotid gland | Parotid gland hypoplasia | hypoplasia; parotid gland HPO2016_07_04:HP:0009740|OMIM2016_04_17:MTHU050109 C3889576 EuphoriaMeningitis is inflammation of the thin tissue that surrounds the brain and spinal cord, called the meninges. There are several types of meningitis. The most common is viral meningitis, which you get when a virus enters the body through the nose or mouth and travels to the brain. Bacterial meningitis is rare, but can be deadly. It usually starts with bacteria that cause a cold-like infection. It can block blood vessels in the brain and lead to stroke and brain damage. It can also harm other organs. Pneumococcal infections and meningococcal infections can cause bacterial meningitis.
Anyone can get meningitis, but it is more common in people whose bodies have trouble fighting infections. Meningitis can progress rapidly. You should seek medical care quickly if you have
Early treatment can help prevent serious problems, including death. Vaccines can prevent some of the bacterial infections that cause meningitis. Parents of adolescents and students living in college dorms should talk to a doctor about the vaccination.
NIH: National Institute of Neurological Disorders and Stroke
| MSH2017_2016_08_12:Inflammation of the coverings of the brain and/or spinal cord, which consist of the PIA MATER; ARACHNOID; and DURA MATER. Infections (viral, bacterial, and fungal) are the most common causes of this condition, but subarachnoid hemorrhage (HEMORRHAGES, SUBARACHNOID), chemical irritation (chemical MENINGITIS), granulomatous conditions, neoplastic conditions (CARCINOMATOUS MENINGITIS), and other inflammatory conditions may produce this syndrome. (From Joynt, Clinical Neurology, 1994, Ch24, p6) | NCI2016_02D:A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. | NCI2016_CTCAE_1602D:A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. | NCI2016_NCI-GLOSS_1602D:Inflammation of the meninges (three thin layers of tissue that cover and protect the brain and spinal cord). Meningitis is usually caused by a bacterial or viral infection, but sometimes is caused by cancer, drug allergies, or inflammatory diseases. | NCI2016_NICHD_1602D:Inflammation of the membranes surrounding the brain and spinal cord. HPO2016_07_04:HP:0001287|ICD10CM_2017:G03.9|ICD9CM_2014:322|ICD9CM_2014:322.9|MSH2017_2016_08_12:D008581|OMIM2016_04_17:MTHU005994|SNOMEDCT_US_2016_09_01:154983000|SNOMEDCT_US_2016_09_01:192678004|SNOMEDCT_US_2016_09_01:192681009|SNOMEDCT_US_2016_09_01:7180009 C1846435 Short-trunked dwarfism Disproportionate short-trunk short stature | Disproportionate short-trunked dwarfism | Disproportionate short-trunked short stature | Short stature, disproportionate (short trunk) | Short-trunked dwarfism HPO2016_07_04:A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. [HPO:probinson] HPO2016_07_04:HP:0003521|OMIM2016_04_17:MTHU003435|OMIM2016_04_17:MTHU011166 C0234437 Postural syncope Postural Syncope | Postural Syncopes | Postural syncope | SYNCOPE POSTURAL | Syncope postural | Syncope, Postural | Syncopes, Postural MSH2017_2016_08_12:D013575|SNOMEDCT_US_2016_09_01:57535003 C0729582 Floating-harbor syndrome FLHS | FLOATING-HARBOR SYNDROME | Floating-Harbor syndrome | Floating-Harbor syndrome (FHS) | Floating-Harbor syndrome (disorder) | Floating-Harbour syndrome | Floating-harbor syndrome | Leisti-Hollander-Rimoin Syndrome | Pelletier-Leisti syndrome | floating harbor syndrome | floating harbour syndrome | floating-harbor syndrome | floating-harbour syndrome JABL99:A triad of short stature, speech and psychomotor development delay, and facial anomalies. The original cases were reported at the Boston Floating Hospital and Harbor General Hospital, Torrance, California, hence the name Floating-Harbor syndrome. MSH2017_2016_08_12:C537062|OMIM2016_04_17:136140|OMIM2016_04_17:611421|SNOMEDCT_US_2016_09_01:205810007|SNOMEDCT_US_2016_09_01:312214005 C4023430 Long-segment aganglionic megacolon Long-segment aganglionic megacolon HPO2016_07_04:A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid. [HPO:probinson] HPO2016_07_04:HP:0011285 C0014488 Epicondylitis EPICONDYLITIS | Epicondylitis | Epicondylitis (disorder) | Epicondylitis NOS | Epicondylitis, NOS | Epitrochleitis | epicondylitis | epicondylitis (diagnosis) SNOMEDCT_US_2016_09_01:156659008|SNOMEDCT_US_2016_09_01:268088003|SNOMEDCT_US_2016_09_01:73583000 C1336475 Paranasal sinus cancer stage i Paranasal Sinus Cancer Stage I | Stage I Accessory Sinus Carcinoma | Stage I Carcinoma of Accessory Sinus | Stage I Carcinoma of Paranasal Sinus | Stage I Carcinoma of the Accessory Sinus | Stage I Carcinoma of the Paranasal Sinus | Stage I Paranasal Sinus Cancer | Stage I Paranasal Sinus Cancer AJCC v6 | Stage I Paranasal Sinus Cancer AJCC v7 | Stage I Paranasal Sinus Carcinoma NCI2016_02D:Stage I includes: T1, N0, M0. T1: Maxillary sinus: Tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. Ethmoid sinus: Tumor restricted to any one subsite, with or without bony invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) C0220663 Blepharophimosis, ptosis, and epicanthus inversus (disorder) BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | BPES | BPES syndrome | Blepharophimosis Syndrome | Blepharophimosis epicanthus inversus ptosis syndrome | Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | Blepharophimosis syndrome | Blepharophimosis syndrome (disorder) | Blepharophimosis, Ptosis, and Epicanthus Inversus | Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome | Blepharophimosis, Ptosis, and Epicanthus Inversus Type I | Conjunctival eyelid tetra syndrome | Familial blepharophimosis syndrome | blepharophimosis sequence | blepharophimosis syndrome | blepharophimosis-ptosis-epicanthus inversus (BPEI) syndrome (BPES) | blepharophimosis-ptosis-epicanthus inversus syndrome | blepharophimosis-ptosis-epicanthus inversus-primary amenorrhea syndrome | blepharophimosis-ptosis-epicanthus inversus-telecanthus complex | blepharoptosis-blepharophimosis-epicanthus inversus-telecanthus syndrome | hereditary blepharophimosis-ptosis-epicanthus inversus syndrome JABL99:Abnormal narrowing of the palpebral fissures with drooping and epicanthus inversus are the principal characteristics of this syndrome. Associated disorders may include mental retardation, ovarian and uterine atrophy with infertility, and lacrimal abnormalities. Type I occurs in females and is associated with infertility. Type II occurs in both males and females. | SNOMEDCT_US_2016_09_01:An ophthalmic disorder characterised by blepharophimosis, ptosis, epicanthus inversus, and telecanthus that can appear associated with or without premature ovarian failure. The disorder is congenital. Additional features include lacrimal duct anomalies, broad nasal bridge, low-set ears, and a short philtrum. Occurs either sporadically (de novo) or, for the eyelid phenotype, is inherited in an autosomal dominant manner with complete penetrance. | SNOMEDCT_US_2016_09_01:An ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus that can appear associated with or without premature ovarian failure. The disorder is congenital. Additional features include lacrimal duct anomalies, broad nasal bridge, low-set ears, and a short philtrum. Occurs either sporadically (de novo) or, for the eyelid phenotype, is inherited in an autosomal dominant manner with complete penetrance. MSH2017_2016_08_12:C562419|OMIM2016_04_17:110100|OMIM2016_04_17:605597|SNOMEDCT_US_2016_09_01:715391004|SNOMEDCT_US_2016_09_01:79833006 C1860253 Accessory proximal metacarpal ossification centers Accessory proximal metacarpal ossification centers | Metacarpal pseudoepiphyses | Pseudoepiphyses of the metacarpals HPO2016_07_04:A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone. [HPO:doelkens] HPO2016_07_04:HP:0009193|OMIM2016_04_17:MTHU014895|OMIM2016_04_17:MTHU020850 C0023648 Lichen planus, bullous Bullous Lichen Planus | Bullous lichen planus | Bullous lichen planus (disorder) | Lichen planus bullosus | Lichen planus, bullous | bullous lichen planus | bullous lichen planus (diagnosis) | lichen planus bullous | lichen; planus, bullous NCI2016_02D:A rare form of lichen planus that is characterized by the formation of vesico-bullous lesions on top of preexisting lichen planus papules or on normal skin. ICD10CM_2017:L43.1|SNOMEDCT_US_2016_09_01:6111009 C0267596 Bleeding rectal BLEEDING RECTAL | Bleeding - rectal | Bleeding PR | Bleeding per rectum | Bleeding rectal | Bleeding-rectal | Bleeding;anal | Bleeding;rectal | Blood per rectum | HAEMORRHAGE RECTUM | HEMORRHAGE RECTAL | HEMORRHAGE RECTUM | Haemorrhage - rectal | Haemorrhage of rectum | Haemorrhage rectal | Haemorrhage rectum | Hemorrhage - rectal | Hemorrhage of rectum | Hemorrhage rectal | Hemorrhage rectum | PR - Bleeding per rectum | PR - Blood per rectum | PRB - Rectal bleeding | Proctorrhagia | RB - Rectal bleeding | RECTAL BLEEDING | RECTAL HEMORRHAGE | RECTUM BLEEDING | Rectal Bleeding | Rectal Hemorrhage | Rectal bleeding | Rectal blood loss | Rectal haemorrhage | Rectal haemorrhage (disorder) | Rectal hemorrhage | Rectal hemorrhage (disorder) | Rectorrhagia | bleeding per rectum | bleeding rectum | hemorrhage; rectum | proctorrhagia | rectal bleed | rectal bleeding | rectal blood loss | rectal hemorrhage | rectal hemorrhage (diagnosis) | rectorrhagia | rectum bleeding | rectum hemorrhage | rectum; hemorrhage NCI2016_02D:Bleeding originating from the rectal wall and discharged from the anus. | NCI2016_CTCAE_1602D:A disorder characterized by bleeding from the rectal wall and discharged from the anus. OMIM2016_04_17:MTHU017323|SNOMEDCT_US_2016_09_01:12063002|SNOMEDCT_US_2016_09_01:155804001|SNOMEDCT_US_2016_09_01:197219000|SNOMEDCT_US_2016_09_01:197220006|SNOMEDCT_US_2016_09_01:266532006 C1335139 Adenoid cystic carcinoma of oropharynx Adenoid Cystic Carcinoma of Oropharynx | Adenoid Cystic Carcinoma of the Oropharynx | Adenoid cystic carcinoma of oropharynx | Adenoid cystic carcinoma of oropharynx (disorder) | Oropharyngeal Adenoid Cystic Carcinoma | adenoid cystic carcinoma of oropharynx | adenoid cystic carcinoma of oropharynx (diagnosis) NCI2016_02D:A rare adenoid cystic carcinoma that arises from the oropharynx. SNOMEDCT_US_2016_09_01:423318000 C1854245 Basal cell carcinoma, multiple BASAL CELL CARCINOMA, MULTIPLE | Basal cell carcinoma, multiple | Multiple basal cell carcinoma MSH2017_2016_08_12:C537656|OMIM2016_04_17:605462 C3281215 Night blindness, congenital stationary, type 1e CSNB, COMPLETE, AUTOSOMAL RECESSIVE | CSNB1E | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E | congenital stationary night blindness - type 1e | congenital stationary night blindness - type 1e (diagnosis) OMIM2016_04_17:614515|OMIM2016_04_17:614565 C1842774 Hyperpigmented macules Hypermelanotic macule | Hyperpigmented macules | Hyperpigmented skin patches | Hyperpigmented spots | hyperpigmented skin patch | hyperpigmented skin patch (physical finding) | macule hyperpigmented | macule hyperpigmented (physical finding) HPO2016_07_04:A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. [DDD:cmoss] HPO2016_07_04:HP:0001034|OMIM2016_04_17:MTHU002634|OMIM2016_04_17:MTHU008969 C0270726 Alexander disease ALEXANDER DISEASE | ALXDRD | Alexander Disease | Alexander Disease [Disease/Finding] | Alexander disease | Alexander syndrome | Alexander's Disease | Alexander's disease | Alexander's disease (disorder) | Alexanders Disease | Demyelinogenic Leukodystrophy | Dysmyelinogenic Leukodystrophy | Fibrinoid Degeneration of Astrocytes | Fibrinoid leukodystrophy | Leukodystrophy with Rosenthal Fibers | Progressive astrocyte degeneration syndrome | alexander disease | alexander's disease | alexanders disease | demyelinogenic leukodystrophy | dysmyelinogenic leukodystrophy | fibrinoid degeneration of astrocytes | fibrinoid leukodystrophy | fibrinoid leukodystrophy (diagnosis) | macrocephaly with feeblemindedness and encephalopathy with peculiar deposits | megalencephaly with hyaline panneuropathy JABL99:A degenerative brain disease. Infantile type is characterized by a rapidly progressive course, seizures, psychomotor retardation, and hydrocephalus. Juvenile type is marked by a protracted course, bulbar palsy, ataxia, and sometimes mental retardation. | MSH2017_2016_08_12:Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance. | NCI2016_02D:A rare genetic neurodegenerative disorder which belongs to the group of leukodystrophies. It has a slow and progressive clinical course and is characterized by developmental delay, macrocephaly, seizures, dementia and spasticity. MSH2017_2016_08_12:D038261|OMIM2016_04_17:137780|OMIM2016_04_17:203450|SNOMEDCT_US_2016_09_01:81854007 C1368918 Primary peritoneal serous papillary adenocarcinoma Primary Peritoneal Serous Papillary Adenocarcinoma | Primary Peritoneal Serous Papillary Carcinoma | Primary Serous Papillary Carcinoma of Peritoneum | Primary serous papillary carcinoma of peritoneum NCI2016_02D:A rare, serous papillary adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous papillary adenocarcinoma that arises from the ovary. SNOMEDCT_US_2016_09_01:15674004 C1832112 Epiphyseal dysplasia, multiple, with robin phenotype EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH ROBIN PHENOTYPE | Epiphyseal Dysplasia, Multiple, with Robin Phenotype | MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE | Multiple Epiphyseal Dysplasia with Robin Phenotype MSH2017_2016_08_12:C563291|OMIM2016_04_17:601560 C3150154 Chromosome 16p11.2 deletion syndrome, 593-kb CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB OMIM2016_04_17:611913 C0036982 Shock, hemorrhagic Haemorrhagic shock | Hemorrhagic Shock | Hemorrhagic shock | Hemorrhagic shock (disorder) | Shock haemorrhagic | Shock hemorrhagic | Shock, Hemorrhagic | Shock, Hemorrhagic [Disease/Finding] | Shock, hemorrhagic | haemorrhagic shock | hemorrhagic shock | hemorrhagic shock (diagnosis) CSP2006:hemorrhage decreases the mean systemic filling pressure, therefore decreasing venous return; as a result, the cardiac output falls below normal, and shock ensues. | MSH2017_2016_08_12:Acute hemorrhage or excessive fluid loss resulting in HYPOVOLEMIA. MSH2017_2016_08_12:D012771|SNOMEDCT_US_2016_09_01:355001 C0023652 Lichen sclerosus et atrophicus LICHEN SCLEROSUS ET ATROPHICUS | LSA | Lichen Scleroses | Lichen Sclerosis | Lichen Sclerosis et Atrophicus | Lichen Sclerosus | Lichen Sclerosus et Atrophicus | Lichen Sclerosus et Atrophicus [Disease/Finding] | Lichen sclerosis & atrophicus | Lichen sclerosis atrophicus | Lichen sclerosus | Lichen sclerosus et atrophicus | Lichen sclerosus et atrophicus (disorder) | Lichen sclerosus et atrophicus, NOS | Lichen sclerosus et atropicus | Scleroses, Lichen | Sclerosis, Lichen | Sclerosus, Lichen | White spot disease | atrophicus lichens sclerosis | disease (or disorder); white spot (lichen sclerosus et atrophicus) | disease; white spot | lichen et atrophicus sclerosus | lichen et sclerosus atrophicus | lichen sclerosis atrophicus | lichen sclerosus | lichen sclerosus et atrophicus | lichen sclerosus et atrophicus (diagnosis) | lichen; sclerosus | lichens sclerosus | sclerosus lichen | sclerosus; lichen | white spot disease | white spot; disease | white spot; lichen sclerosus et atrophicus MSH2017_2016_08_12:A chronic inflammatory mucocutaneous disease usually affecting the female genitalia (VULVAR LICHEN SCLEROSUS) and BALANITIS XEROTICA OBLITERANS in males. It is also called white spot disease and Csillag's disease. | NCI2016_02D:A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis. ICD10CM_2017:L90.0|MSH2017_2016_08_12:D018459|OMIM2016_04_17:151590|SNOMEDCT_US_2016_09_01:156395005|SNOMEDCT_US_2016_09_01:25674000|SNOMEDCT_US_2016_09_01:267858008 C0393720 Reflex epilepsy, photosensitive Epilepsies, Photosensitive | Epilepsies, Photosensitive Reflex | Epilepsy, Photogenic | Epilepsy, Photosensitive | Epilepsy, Photosensitive Reflex | Photic epilepsy | Photogenic epilepsy | Photogenic epilepsy (disorder) | Photosensitive Epilepsies | Photosensitive Epilepsy | Photosensitive Reflex Epilepsies | Photosensitive Reflex Epilepsy | Photosensitive epilepsy | Reflex Epilepsies, Photosensitive | Reflex Epilepsy, Photosensitive | Television epilepsy | photic epilepsy | photogenic epilepsy | photosensitive epilepsy | television epilepsy MSH2017_2016_08_12:D020195|OMIM2016_04_17:MTHU023283|SNOMEDCT_US_2016_09_01:95208000 C1856778 Widely patent coronal suture Widely patent coronal suture HPO2016_07_04:The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed. [HPO:curators] HPO2016_07_04:HP:0005442|OMIM2016_04_17:MTHU013045 C1846421 Lathosterolosis 3-beta-hydroxysteroid-delta(5)-desaturase deficiency | Deficiency of 3-beta-hydroxysteroid-delta(5)-desaturase | LATHOSTEROLOSIS | Lathosterolosis | SC5D DEFICIENCY | STEROL C5-DESATURASE DEFICIENCY | Sterol C5-Desaturase Deficiency MSH2017_2016_08_12:C537880|OMIM2016_04_17:602286|OMIM2016_04_17:607330 C3553940 Peroxisome biogenesis disorder 5a (zellweger) PBD5A | PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) OMIM2016_04_17:170993|OMIM2016_04_17:614866 C3540616 Nci ctep sdc retinoblastoma sub-category terminology NCI CTEP SDC Retinoblastoma Sub-Category Terminology | NCI CTEP Simple Disease Classification Retinoblastoma Sub-Category Terminology | Retinoblastoma NCI2016_02D:Retinoblastoma is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology. C0032461 Polycythemia Abnormally shaped erythrocytes | Erythrocythaemia | Erythrocythemia | POLYCYTHAEMIA | POLYCYTHEMIA | Polycythaemia | Polycythaemia NOS | Polycythaemia, NOS | Polycythemia | Polycythemia NOS | Polycythemia [Disease/Finding] | Polycythemia, NOS | Polycythemias | polycythaemia | polycythemia | polycythemia (diagnosis) CHV2011_02:an abnormal increase of the red blood cell in the circulating blood | CSP2006:increase in the total red cell mass of the blood. | HPO2016_07_04:Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. [HPO:probinson] | MSH2017_2016_08_12:An increase in the total red cell mass of the blood. (Dorland, 27th ed) | NCI2016_02D:Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume.(NICHD) | NCI2016_NICHD_1602D:Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. HPO2016_07_04:HP:0001901|ICD10CM_2017:D75.1|MSH2017_2016_08_12:D011086|OMIM2016_04_17:MTHU006480|SNOMEDCT_US_2016_09_01:109992005|SNOMEDCT_US_2016_09_01:127062003|SNOMEDCT_US_2016_09_01:165401000|SNOMEDCT_US_2016_09_01:44865000 C0519067 Renal interstitial sarcoidosis Granulomatous sarcoid nephropathy | Granulomatous sarcoid nephropathy (disorder) | RENAL INTERSTITIAL SARCOIDOSIS | Renal sarcoidosis | kidney interstitial sarcoidosis | kidney sarcoidosis | renal sarcoidosis | sarcoid nephropathy | sarcoid nephropathy (diagnosis) | sarcoidosis kidney SNOMEDCT_US_2016_09_01:37061001 C0149782 Squamous cell carcinoma of lung Epidermoid Cell Carcinoma of Lung | Epidermoid Cell Carcinoma of the Lung | Epidermoid Cell Lung Carcinoma | Epidermoid carcinoma of lung | LUNG CANCER SQUAMOUS CELL | Lung squamous cell carcinoma stage unspecified | SCC - Squamous cell carcinoma of lung | SQUAMOUS CELL CARCINOMA OF LUNG | Squamous Cell Carcinoma of Lung | Squamous Cell Carcinoma of the Lung | Squamous Cell Lung Carcinoma | Squamous cell carcinoma of lung | Squamous cell carcinoma of lung (disorder) | Squamous cell carcinoma of lung stage unspecified | Squamous cell lung carcinoma | cancer cell lung squamous | cancer cell lungs squamous | cancer cells lung squamous | cancers cell lung squamous | carcinoma cell lung squamous | carcinoma cell lungs squamous | epidermoid lung cancer | lung cancer squamous cell | lung cancer, epidermoid | lung cancer, squamous cell | lung squamous cell carcinoma | non-oat cell lung cancer, squamous cell | squamous cell cancer lung | squamous cell carcinoma lung | squamous cell carcinoma of lung | squamous cell carcinoma of lung (diagnosis) | squamous cell lung cancer | squamous cell lung carcinoma HPO2016_07_04:A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells. [HPO:probinson] | NCI2016_02D:A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma. HPO2016_07_04:HP:0030359|SNOMEDCT_US_2016_09_01:254634000 C4225170 Leukodystrophy, hypomyelinating, 13 HLD13 | LEUKODYSTROPHY, HYPOMYELINATING, 13 OMIM2016_04_17:614908|OMIM2016_04_17:616881 C0455990 Fetalis hydrops immune Hydrops Fetalis, Immune | Hydrops fetalis (& [due to isoimmunisation]) | Hydrops fetalis (& [due to isoimmunisation]) (disorder) | Hydrops fetalis (& [due to isoimmunization]) | Hydrops fetalis - due to isoim | Hydrops fetalis due to isoimmunisation | Hydrops fetalis due to isoimmunization | Hydrops fetalis due to isoimmunization (disorder) | Hydrops fetalis due to isoimmunization [dup] (disorder) | Hydrops fetalis-due to isoimm. | Hydrops foetalis due to isoimmunisation | Hydrops foetalis due to isoimmunization | Immune Hydrops Fetalis | Immune hydrops fetalis | Immune hydrops foetalis | fetalis hydrops immune | hydrops; fetal, due to isoimmunization | immune hydrops fetalis | isoimmunization; fetus, with hydrops fetalis | isoimmunized hydrops fetalis | isoimmunized hydrops fetalis (diagnosis) NCI2016_02D:Fluid accumulation in multiple fetal anatomic cavities attributable to a maternal immune response against fetal blood cell antigens.(NICHD) | NCI2016_NICHD_1602D:Fluid accumulation in multiple fetal anatomic cavities attributable to a maternal immune response against fetal blood cell antigens. ICD10CM_2017:P56.0|ICD9CM_2014:773.3|MSH2017_2016_08_12:D015160|SNOMEDCT_US_2016_09_01:15539009|SNOMEDCT_US_2016_09_01:157134005|SNOMEDCT_US_2016_09_01:206432002|SNOMEDCT_US_2016_09_01:268879006 C0455717 Syndrome webers Weber Syndrome | Weber syndrome | Weber's syndrome | Weber's syndrome (diagnosis) | Weber-Gubler syndrome | Weber-Gubler syndrome (disorder) | syndrome webers | weber syndrome | weber's syndrome | webers syndrome ICD10CM_2017:G46.3|MSH2017_2016_08_12:D020526|SNOMEDCT_US_2016_09_01:24654003 C0023653 Lichenification Cutaneous lichenification | LICHENIFICATION | Lichenification | Lichenification (disorder) | Lichenification (morphologic abnormality) | Lichenification NOS | Lichenification NOS (disorder) | disorders lichenification | lichenification | lichenification (physical finding) | lichenification was seen HPO2016_07_04:Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. [HPO:probinson] | NCI2016_02D:Thickening and hardening of the skin associated with chronic inflammation or irritation. | NCI2016_NICHD_1602D:Thickening and hardening of the skin associated with chronic inflammation or irritation. HPO2016_07_04:HP:0100725|OMIM2016_04_17:MTHU038847|SNOMEDCT_US_2016_09_01:19940005|SNOMEDCT_US_2016_09_01:201022004|SNOMEDCT_US_2016_09_01:402237006 C1855347 Marfanoid mental retardation syndrome, autosomal MARFANOID MENTAL RETARDATION SYNDROME, AUTOSOMAL | Marfanoid Mental Retardation Syndrome, Autosomal MSH2017_2016_08_12:C565410|OMIM2016_04_17:248770 C1847114 Spinocerebellar ataxia, autosomal recessive 5 Cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5 | Spinocerebellar ataxia, autosomal recessive 5 MSH2017_2016_08_12:C537311 C0042636 Vibrio infection Infection caused by Vibrio | Infection caused by Vibrio (disorder) | Infection due to Vibrio | Infection due to Vibrio (disorder) | Infection, Vibrio | Infections, Vibrio | Vibrio Infection | Vibrio Infections | Vibrio Infections [Disease/Finding] | Vibrio infections | Vibriosis | vibrio infection | vibriosis CSP2006:infection with bacteria of the genus Vibrio. | MSH2017_2016_08_12:Infections with bacteria of the genus VIBRIO. MSH2017_2016_08_12:D014735|SNOMEDCT_US_2016_09_01:398557001|SNOMEDCT_US_2016_09_01:406621006 C0856747 Aneurysm of ascending aorta Aneurysm of ascending aorta | Aneurysm of ascending aorta (disorder) | Aneurysm, ascending aorta | Ascending aortic aneurysm | aneurysm aorta ascending | aneurysm ascending aorta | aneurysm of ascending aorta | aneurysm of ascending aorta (diagnosis) | aneurysm; ascending aorta | aneurysms aorta ascending | aorta ascendens; aneurysm | ascending aorta aneurysm | ascending aortic aneurysm HPO2016_07_04:A bulging, weakened area in the wall of the ascending thoracic aorta. [HPO:probinson] HPO2016_07_04:HP:0002631|OMIM2016_04_17:MTHU001164|OMIM2016_04_17:MTHU036738|SNOMEDCT_US_2016_09_01:425963007 C1844384 Recurrent fungal infections Fungal infections, recurrent | Recurrent fungal infections HPO2016_07_04:Increased susceptibility to fungal infections, as manifested by recurrent episodes of fungal infection. [HPO:probinson] HPO2016_07_04:HP:0002841|OMIM2016_04_17:MTHU007568|OMIM2016_04_17:MTHU023268 C0206652 Cell sarcoma, small Cell Sarcoma, Small | Cell Sarcomas, Small | Sarcoma, Small Cell | Sarcoma, Small Cell [Disease/Finding] | Sarcomas, Small Cell | Small Cell Sarcoma | Small Cell Sarcomas | Small cell sarcoma | Small cell sarcoma (morphologic abnormality) | sarcoma; small cell | small cell sarcoma | small cell sarcoma (diagnosis) | small cell; sarcoma MSH2017_2016_08_12:A sarcoma characterized by the presence of small cells, cells measuring 9-14 micrometers with a faint or indistinct rim of cytoplasm and an oval-to-elongated nucleus with relatively dense chromatin. (From Segen, Dictionary of Modern Medicine, 1992) | NCI2016_02D:A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm. MSH2017_2016_08_12:D018228|SNOMEDCT_US_2016_09_01:73506006 C3150974 Hirschsprung disease, susceptibility to, 3 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 | HSCR3 OMIM2016_04_17:600837|OMIM2016_04_17:613711 C3642476 Subendocardial myocardial infarction by ecg finding Subendocardial Myocardial Infarction by ECG Finding | Subendocardial Myocardial Infarction by EKG Finding NCI2016_02D:An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart. C2936739 Hyper-immunoglobulin e syndrome, autosomal dominant Autosomal Dominant HIES | Autosomal Dominant HIESs | HIES, AUTOSOMAL DOMINANT | HIES, Autosomal Dominant | HIESs, Autosomal Dominant | HYPER-IgE SYNDROME, AUTOSOMAL DOMINANT | Hyper IgE Syndrome, Autosomal Dominant | Hyper Immunoglobulin E Syndrome, Autosomal Dominant | Hyper-IgE Syndrome, Autosomal Dominant | Hyper-Immunoglobulin E Syndrome, Autosomal Dominant MSH2017_2016_08_12:D007589|OMIM2016_04_17:147060 C0031900 Pierre robin syndrome GLOSSOPTOSIS, MICROGNATHIA, AND CLEFT PALATE | Glossoptosis, Micrognathia, and Cleft Palate | Micrognathia-glossoptosis syndrome | PIERRE ROBIN SEQUENCE | PIERRE ROBIN SYNDROME | PRBNS | Piere-Robin syndrome | Pierre Robin | Pierre Robin Sequence | Pierre Robin Syndrome | Pierre Robin Syndrome [Disease/Finding] | Pierre Robin association | Pierre Robin sequence | Pierre Robin syndrome | Pierre Robin syndrome (diagnosis) | Pierre Robin's Sequence | Pierre Robin's syndrome | Pierre Robins Sequence | Pierre-Robin Syndrome | Pierre-Robin sequence | Pierre-robin anomaly | Pierre-robin deformity | Pierre-robin malformation | Robin | Robin Sequence | Robin Syndrome, Pierre | Robin sequence | Robin sequence (disorder) | Robin syndrome | Robin's anomalad | Robin's syndrome | Sequence, Pierre Robin | Sequence, Pierre Robin's | Sequence, Robin | Syndrome, Pierre Robin | Syndrome, Pierre-Robin | micrognathia-glossoptosis; syndrome | pierre robin syndrome | pierre robin's syndrome | pierre robins syndrome | pierre-robin syndrome | robin sequence | robins sequence | syndrome pierre robin | syndrome; micrognathia-glossoptosis HPO2016_07_04:Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. [HPO:probinson] | MSH2017_2016_08_12:Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome. | NCI2016_02D:A rare congenital malformation characterized by micrognathia, posterior retraction of the tongue, and cleft palate. HPO2016_07_04:HP:0000201|ICD10CM_2017:Q87.0|MSH2017_2016_08_12:D010855|OMIM2016_04_17:261800|OMIM2016_04_17:MTHU004640|OMIM2016_04_17:MTHU015092|OMIM2016_04_17:MTHU017237|OMIM2016_04_17:MTHU045545|SNOMEDCT_US_2016_09_01:156908005|SNOMEDCT_US_2016_09_01:268313009|SNOMEDCT_US_2016_09_01:4602007 C4280634 Hypoplasia of forehead Hypoplasia of forehead HPO2016_07_04:HP:0000350 C1832585 Cerebellar ataxia, cayman type ATCAY | CAYMAN ATAXIA | CEREBELLAR ATAXIA, CAYMAN TYPE | Cayman ataxia | Cerebellar Ataxia, Cayman Type | Cerebellar ataxia Cayman type | Cerebellar ataxia Cayman type (disorder) SNOMEDCT_US_2016_09_01:Cerebellar ataxia Cayman type has characteristics of psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia. The prevalence is unknown, but the disorder is very rare in the general population. However, a founder mutation has led to a high incidence in the Cayman island population. The disorder is transmitted as an autosomal recessive trait and is caused by mutations in the ATCAY gene (19p13.3), encoding Caytaxin. MSH2017_2016_08_12:C563363|OMIM2016_04_17:601238|OMIM2016_04_17:608179|SNOMEDCT_US_2016_09_01:717332007 C1855057 Ataxia-telangiectasia variant v2 AT-V2 | ATAXIA-TELANGIECTASIA VARIANT V2 | Ataxia-Telangiectasia Variant V2 MSH2017_2016_08_12:C565380|OMIM2016_04_17:251260 C2936777 Nevo syndrome (disorder) Cerebral gigantism nevo type | NEVO SYNDROME | Nevo syndrome | Nevo syndrome (disorder) MSH2017_2016_08_12:C536113|OMIM2016_04_17:225400 C1855346 Mast syndrome MAST SYNDROME | MAST Syndrome | SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE | SPG21 | Spastic Paraplegia 21, Autosomal Recessive MSH2017_2016_08_12:C565409|OMIM2016_04_17:248900 C0019050 Hemoglobinuria, paroxysmal Hemoglobinuria, Paroxysmal | Hemoglobinuria, Paroxysmal [Disease/Finding] | Paroxysmal Hemoglobinuria | Paroxysmal haemoglobinuria NOS | Paroxysmal hemoglobinuria | Paroxysmal hemoglobinuria NOS | Paroxysmal hemoglobinuria NOS (disorder) | hemoglobinuria; paroxysmal | paroxysmal haemoglobinuria | paroxysmal hemoglobinuria | paroxysmal; hemoglobinuria MSH2017_2016_08_12:A condition characterized by the recurrence of HEMOGLOBINURIA caused by intravascular HEMOLYSIS. In cases occurring upon cold exposure (paroxysmal cold hemoglobinuria), usually after infections, there is a circulating antibody which is also a cold hemolysin. In cases occurring during or after sleep (paroxysmal nocturnal hemoglobinuria), the clonal hematopoietic stem cells exhibit a global deficiency of cell membrane proteins. MSH2017_2016_08_12:D006457|SNOMEDCT_US_2016_09_01:191226006|SNOMEDCT_US_2016_09_01:234377003 C0037580 Soft tissue swelling SOFT TISSUE SWELLING | Soft tissue swelling | Soft tissue swelling (finding) | soft swelling tissue | soft tissue swelling | soft tissue swelling (symptom) SNOMEDCT_US_2016_09_01:298349001 C3899516 Complex tic Complex Tic | Complex tic NCI2016_02D:A tic that involves multiple muscles or muscle groups, or words or sentences. | NCI2016_NICHD_1602D:A tic that involves multiple muscles or muscle groups, or words or sentences. C1837090 Keratoconus 2 KERATOCONUS 2 | KTCN2 | Keratoconus 2 MSH2017_2016_08_12:C563827|OMIM2016_04_17:608932 C0152245 Leakage urine Extravasation of urine | Extravasation of urine (disorder) | Extravasation of urine (morphologic abnormality) | Extravasation, urine | Leakage of urine | Leakage, urine | Urinary extravasation | [D]Extravasation of urine | [D]Extravasation of urine (context-dependent category) | [D]Extravasation of urine (situation) | extravasation of urine | extravasation of urine (symptom) | extravasation urine | extravasation; urine | leakage urine | urine leakage | urine; extravasation ICD10CM_2017:R39.0|ICD9CM_2014:788.8|SNOMEDCT_US_2016_09_01:158491009|SNOMEDCT_US_2016_09_01:207197007|SNOMEDCT_US_2016_09_01:274732007|SNOMEDCT_US_2016_09_01:67502006 C0035091 Renal tubular transport, inborn errors Kidney Tubular Transport, Inborn Error | Kidney Tubular Transport, Inborn Errors | Renal Tubular Transport Errors | Renal Tubular Transport, Inborn Error | Renal Tubular Transport, Inborn Errors | Renal Tubular Transport, Inborn Errors [Disease/Finding] | inborn renal tubular transport disorder CSP2006:genetically determined disorders of the reabsorptive functions of the kidney with regard to specific nephron segments responsible for specific transport functions, classifiable by proximal nephron function, loop of Henle function, and distal nephron function; transport defects can be selective or nonselective. | MSH2017_2016_08_12:Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES. MSH2017_2016_08_12:D015499 C4022729 Increased arm span Increased arm span HPO2016_07_04:Decreased length of the arm span (length from one end of an individual's arms (measured at the fingertips) to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle. [HPO:probinson] HPO2016_07_04:HP:0012771|OMIM2016_04_17:MTHU050999 C0265428 9p+ syndrome 9p duplication syndrome | 9p partial trisomy syndrome | 9p partial trisomy syndrome (disorder) | 9p syndrome | 9p+ syndrome | Chromosome 9, partial trisomy 9p | Duplication 9p partial | Rethore syndrome | R茅thor茅 syndrome | Trisomy 9p partial | Trisomy 9p syndrome | chromosome 9p duplication syndrome | chromosome 9p trisomy | dup(9p) syndrome | duplication 9p syndrome | partial trisomy 9p | trisomy 9p JABL99:Duplication of the short arm of chromosome 9 with psychomotor retardation, hypertelorism, deep-set eyes, downslanting palpebral fissures, large nose, short upper lip, down-curved corners of the mouth, cup-shaped ears, kyphoscoliosis, small hands and feet, characteristic dermatoglyphic patterns, and cryptorchidism. MSH2017_2016_08_12:C538026|SNOMEDCT_US_2016_09_01:77527000 C3648921 Hemiplegia affecting left nondominant side hemiplegia affecting left nondominant side | hemiplegia affecting left nondominant side (diagnosis) C0349644 Malignant lymphoma of testis Lymphoma of Testis | Lymphoma of the Testis | Malignant lymphoma of testis | Malignant lymphoma of testis (disorder) | Primary Testicular Lymphoma | Testicular Lymphoma | malignant lymphoma of testis | malignant lymphoma of testis (diagnosis) NCI2016_02D:A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site. SNOMEDCT_US_2016_09_01:277664004 C0005403 Bile reflux Bile Reflux | Bile Reflux [Disease/Finding] | Bile reflux | Bile reflux (finding) | Reflux, Bile | bile reflux | reflux bile MSH2017_2016_08_12:Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (DUODENOGASTRIC REFLUX); to the esophagus (GASTROESOPHAGEAL REFLUX); or to the PANCREAS. MSH2017_2016_08_12:D001655 C0037415 Social facilitation Facilitation (Social) | Facilitation, Social | Facilitations, Social | Social Facilitation | Social Facilitations | Social facilitation | social facilitation CSP2006:any enhancement of a motivated behavior in which individuals do the same thing with some degree of mutual stimulation and consequent coordination. | MSH2017_2016_08_12:Any enhancement of a motivated behavior in which individuals do the same thing with some degree of mutual stimulation and consequent coordination. | PSY2004:Process whereby activity is increased in the presence of conspecifics. MSH2017_2016_08_12:D012932 C4028862 Influenza c with manifestations influenza c with manifestations | influenza type C with manifestations | influenza type C with manifestations (diagnosis) C3489724 Aicardi-goutieres syndrome 2 AGS2 | AICARDI-GOUTIERES SYNDROME 2 | Aicardi-Goutieres Syndrome 2 MSH2017_2016_08_12:C535607|OMIM2016_04_17:610181|OMIM2016_04_17:610326 C2674616 Familial adenomatous polyposis, attenuated (disorder) AAPC | ADENOMATOUS POLYPOSIS COLI, ATTENUATED | AFAP | Attenuated Adenomatous Polyposis Coli | Attenuated Familial Adenomatous Polyposis | Attenuated familial adenomatous polyposis | Attenuated familial adenomatous polyposis (disorder) | Attenuated familial polyposis coli | FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED | FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) | Familial Adenomatous Polyposis, Attenuated | HFAS | Hereditary Flat Adenoma Syndrome NCI2016_02D:A rare genetic syndrome with an autosomal dominant pattern of inheritance. It was formerly called hereditary flat adenoma syndrome (HFAS) but is now recognized as an attenuated variant of familial adenomatous polyposis (FAP). It is most commonly associated with mutations in the APC gene specifically: exons 1-5, exon 9 and in the distal 3' terminus. Clinical presentation occurs in the middle decades and is characterized by the proximal development of multiple (but less than 100), non-polypoid colonic adenomas. Clinical progression to colorectal cancer may occur later in life but the risk is less than with classic FAP. | SNOMEDCT_US_2016_09_01:A mild form of familial adenomatous polyposis with main features described as the presence of fewer than 100 adenomatous polyposis, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features. MSH2017_2016_08_12:C538265|OMIM2016_04_17:175100|SNOMEDCT_US_2016_09_01:715866009 C4021365 Partial duplication of the distal phalanx of the 2nd finger Bifid terminal phalanx of the 2nd finger | Notched outermost bone of the index finger | Partial duplication of the distal phalanx of the 2nd finger | Partial duplication of the outermost bone of the 2nd finger HPO2016_07_04:Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. [HPO:sdoelken] HPO2016_07_04:HP:0009951 C4021455 Enlarged epiphysis of the proximal phalanx of the 2nd finger Enlarged end part of innermost long bone of index finger | Enlarged epiphysis of the proximal phalanx of the 2nd finger | Large epiphysis of proximal index finger phalanx HPO2016_07_04:HP:0009527 C0752323 Focal clonic seizures Clonic Seizures, Focal | Focal Clonic Seizure | Focal Clonic Seizures | Focal clonic seizures | Localized clonic seizure | Partial clonic seizure | Seizure, Focal Clonic HPO2016_07_04:HP:0002266|MSH2017_2016_08_12:D020938|OMIM2016_04_17:MTHU018843 C0024894 Mastitis BREAST INFLAMMATION | Breast infection | Breast inflammation | Breast inflammation NOS | Breast inflammation NOS (disorder) | MASTITIS | Mammitis | Mastitis | Mastitis (disorder) | Mastitis NOS | Mastitis [Disease/Finding] | Mastitis, NOS | breast; inflammation | breasts inflammation | inflammation; breast | mastitis | mastitis (diagnosis) MSH2017_2016_08_12:INFLAMMATION of the BREAST, or MAMMARY GLAND. | NCI2016_02D:Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection.(NICHD) | NCI2016_CTCAE_1602D:A disorder characterized by an infectious process involving the breast. | NCI2016_NCI-GLOSS_1602D:A condition in which breast tissue is inflamed. It is usually caused by an infection and is most often seen in nursing mothers. | NCI2016_NICHD_1602D:Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. MSH2017_2016_08_12:D008413|SNOMEDCT_US_2016_09_01:155952005|SNOMEDCT_US_2016_09_01:155955007|SNOMEDCT_US_2016_09_01:198099006|SNOMEDCT_US_2016_09_01:266641007|SNOMEDCT_US_2016_09_01:266644004|SNOMEDCT_US_2016_09_01:45198002 C0205645 Adenocarcinoma, tubular Adenocarcinoma, Tubular | Adenocarcinomas, Tubular | CARCINOMA, TUBULAR CELL, MALIGNANT | Carcinoma, Tubular | Carcinomas, Tubular | Tubular Adenocarcinoma | Tubular Adenocarcinomas | Tubular Carcinoma | Tubular Carcinomas | Tubular adenocarcinoma | Tubular adenocarcinoma (morphologic abnormality) | Tubular carcinoma | carcinoma tubular | tubular adenocarcinoma | tubular adenocarcinoma (diagnosis) | tubular carcinoma | tubular carcinomas NCI2016_02D:An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma. | NCI2016_CDISC_1602D:A malignant glandular neoplasm exhibiting tubular structures. MSH2017_2016_08_12:D000230|SNOMEDCT_US_2016_09_01:4631006 C0266574 Ablepharon Ablepharia | Ablepharon | Ablepharon (absent eyelids) | Ablepharon (disorder) | Ablepharon - absent eyelids | Ablepharon of eyelid | Absence of eyelid | Absent eyelids | Agenesis of eyelid | Agenesis of eyelid (disorder) | Agenesis of eyelids | Complete ablepharon | Complete ablepharon (disorder) | Congenital absence of eyelid | Lid Gap | Missing eyelids | OPEN EYE | Open Eye | Open eye | ablepharon | absence; eyelid | agenesis eyelid | agenesis; eyelid | eyelid; absent | eyelid; agenesis | eyes open HPO2016_07_04:Absent eyelids. [pmid:19125427] | NCI2016_02D:A finding in which the eye appears open at birth, either due to the congenital absence of eyelids or incomplete fusion of the eyelid. | NCI2016_CDISC_1602D:Eyeball visible. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) HPO2016_07_04:HP:0011224|ICD10CM_2017:Q10.3|OMIM2016_04_17:MTHU010682|OMIM2016_04_17:MTHU027595|SNOMEDCT_US_2016_09_01:13401001|SNOMEDCT_US_2016_09_01:204201004|SNOMEDCT_US_2016_09_01:708541009 C0266423 Congenital anomaly of testis Abnormality of the testis | Anomaly of the testes | CONGENITAL ANOMALIES OF THE TESTES | Congenital abnormality of testis | Congenital anomaly of testis | Congenital anomaly of testis (disorder) | Congenital anomaly of testis, NOS | anomaly; testis | deformity; testis | testis; anomaly | testis; deformity HPO2016_07_04:An anomaly of the testicle (the male gonad). [HPO:probinson] HPO2016_07_04:HP:0000035|SNOMEDCT_US_2016_09_01:55631001 C0024536 Malaria, quartan Malaria by Plasmodium malariae | Malaria, quartan | Malariae malaria | Plasmodium malariae malaria | Plasmodium malariae malaria NOS | Plasmodium; malariae | Quartan Malaria | Quartan malaria | Quartan malaria (disorder) | malaria due to Plasmodium malariae | malaria due to plasmodium malariae (diagnosis) | malaria; Plasmodium malariae | malaria; malariae | malaria; quartan | malariae; malarial | quartan; malarial ICD10CM_2017:B52|ICD10CM_2017:B52.9|ICD9CM_2014:084.2|SNOMEDCT_US_2016_09_01:27618009 C4021645 Recurrent abdominal hernia Recurrent abdominal hernia HPO2016_07_04:HP:0004872 C0154089 Carcinoma in situ of penis Bowen Disease of the Penis | Bowen disease of penis | Bowen's Disease of Penis | Bowen's Disease of the Penis | Bowen's disease of glans penis | Bowen's disease of penis | Bowen's disease of penis (diagnosis) | Bowen's disease of penis (disorder) | Bowens disease of penis | CIS - Carcinoma in situ of penis | Cancer in situ of penis | Carcinoma in situ of Penis | Carcinoma in situ of penis | Carcinoma in situ of penis (disorder) | Carcinoma in situ of penis, NOS | Carcinoma in situ of the Penis | ERYTHROPLASIA, QUEYRAT | Erythroplasia of Queyrat | Erythroplasia of Queyrat NOS | Grade III Penile Intraepithelial Neoplasia | Grade III Squamous Intraepithelial Lesion of Penis | Grade III Squamous Intraepithelial Lesion of the Penis | Penile Carcinoma In Situ | Penile Carcinoma In Situ AJCC v7 | Penile intraepithelial neoplasia grade III | Penile intraepithelial neoplasia grade III (diagnosis) | Penile intraepithelial neoplasia grade III (disorder) | Penis carcinoma in situ | Queyrat Erythroplasia | Queyrat erythroplasia | Queyrat erythroplasia of glans penis | Queyrat erythroplasia of glans penis (diagnosis) | Queyrat's Erythroplasia | Queyrat's erythroplasia | Queyrat's erythroplasia (disorder) | Queyrat's erythroplasia (morphologic abnormality) | Queyrats's erythroplasia | [M]Queyrat's erythroplasia | carcinoma in situ of penis | carcinoma in situ of penis (diagnosis) | erythroplasia of queyrat | erythroplasia queyrat | stage 0 penile carcinoma in situ NCI2016_02D:Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. cN0: No palpable or visibly enlarged inguinal lymph nodes. pN0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.) | NCI2016_NCI-GLOSS_1602D:Abnormal cells are found on the surface of the skin of the penis. These abnormal cells may become cancer and spread into nearby normal tissue. ICD10CM_2017:D07.4|ICD9CM_2014:233.5|SNOMEDCT_US_2016_09_01:18348002|SNOMEDCT_US_2016_09_01:189208007|SNOMEDCT_US_2016_09_01:255104003|SNOMEDCT_US_2016_09_01:255105002|SNOMEDCT_US_2016_09_01:255147003|SNOMEDCT_US_2016_09_01:398768004|SNOMEDCT_US_2016_09_01:398831006|SNOMEDCT_US_2016_09_01:400092004|SNOMEDCT_US_2016_09_01:92679008 C0559477 Asphyxia perinatal Birth Asphyxia | Birth Depression | Fetal Asphyxia | Intrapartum Asphyxia | Perinatal Asphyxia | Perinatal Depression | Perinatal asphyxia | Perinatal asphyxia (disorder) | asphyxia perinatal | perinatal asphyxia NCI2016_02D:A condition characterized by cardiorespiratory and neurological depression following birth. | NCI2016_NICHD_1602D:A condition characterized by cardiorespiratory and neurological depression following birth. SNOMEDCT_US_2016_09_01:281578009 C0155120 Corneal dystrophy, band-shaped BAND KERATOPATHY | BK - Band keratopathy | Band Keratopathy | Band keratopathy | Band shaped keratopathy | Band-shaped corneal dystrophy | Band-shaped keratitis | Band-shaped keratopathy | Band-shaped keratopathy (disorder) | CORNEAL DYSTROPHY, BAND-SHAPED | Calcific band keratopathy | Corneal Dystrophy, Band-Shaped | Keratopathy band | band keratopathy | band keratopathy (diagnosis) | band keratopathy (physical finding) | band; keratopathy | corneal degeneration band keratopathy | keratopathy; band HPO2016_07_04:An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation. [HPO:probinson] | NCI2016_02D:The deposition of calcium on the cornea, resulting in pain and decreased visual acuity. | NCI2016_NICHD_1602D:Calcific degeneration of the superficial cornea. HPO2016_07_04:HP:0000585|HPO2016_07_04:HP:0007709|ICD10CM_2017:H18.42|ICD9CM_2014:371.43|MSH2017_2016_08_12:C562399|OMIM2016_04_17:217500|OMIM2016_04_17:MTHU004894|SNOMEDCT_US_2016_09_01:35055000 C0007131 Non-small cell lung carcinoma Carcinoma, Non Small Cell Lung | Carcinoma, Non-Small Cell Lung | Carcinoma, Non-Small-Cell Lung | Carcinoma, Non-Small-Cell Lung [Disease/Finding] | Carcinomas, Non-Small-Cell Lung | LUNG CANCER NON SMALL CELL | Lung Carcinoma, Non-Small-Cell | Lung Carcinomas, Non-Small-Cell | Lung cancer, non-small cell | NONSMALL CELL LUNG CANCER | NSCLC | NSCLC - Non-Small Cell Lung Cancer | NSCLC - Non-small cell lung cancer | Non Small Cell Lung Cancer NOS | Non Small Cell Lung Carcinoma | Non-Small Cell Cancer of Lung | Non-Small Cell Cancer of the Lung | Non-Small Cell Carcinoma of Lung | Non-Small Cell Carcinoma of the Lung | Non-Small Cell Lung Cancer | Non-Small Cell Lung Carcinoma | Non-Small-Cell Lung Carcinoma | Non-Small-Cell Lung Carcinomas | Non-small cell lung cancer | Non-small cell lung cancer (disorder) | Non-small cell lung cancer NOS | Non-small cell lung cancer, NOS | Non-small cell lung carcinoma | Nonsmall Cell Lung Cancer | cancer cell lung non small | cancer cell lung non-small | cancer cells lung non small | carcinoma cell lung non small | carcinoma cell lung non-small | lung cancer non small cell | lung cancer non-small cell | lung cancer, nonsmall cell | lung carcinoma non small cell | non small cell lung cancer | non small cell lung carcinoma | non-oat cell lung cancer | non-small cell carcinoma of lung | non-small cell carcinoma of lung (diagnosis) | non-small cell lung cancer | nonsmall cell lung cancer | nsclc | small non cell lung cancer CSP2006:heterogeneous group of lung cancers which include epidermoid or squamous carcinomas, adenocarcinomas, and large cell carcinomas. | MSH2017_2016_08_12:A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy. | NCI2016_02D:A group of at least three distinct histological types of lung cancer, including squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy. | NCI2016_NCI-GLOSS_1602D:A group of lung cancers that are named for the kinds of cells found in the cancer and how the cells look under a microscope. The three main types of non-small cell lung cancer are squamous cell carcinoma, large cell carcinoma, and adenocarcinoma. Non-small cell lung cancer is the most common kind of lung cancer. HPO2016_07_04:HP:0030358|MSH2017_2016_08_12:D002289|OMIM2016_04_17:147575|OMIM2016_04_17:211980|SNOMEDCT_US_2016_09_01:254637007 C1862263 Bpes without ovarian failure BPES WITHOUT OVARIAN FAILURE | Bpes Without Ovarian Failure MSH2017_2016_08_12:C566222|OMIM2016_04_17:110100 C0268127 Pyrimidine metabolism disorder DISORDERS OF PYRIMIDINE METABOLISM | Disorder of pyrimidine metabolism | Disorder of pyrimidine metabolism (disorder) | Disorder of pyrimidine metabolism, NOS | Disorders of pyrimidine metabolism | metabolic disorder; pyrimidine | pyrimidine metabolism disorder | pyrimidine; metabolic disorder SNOMEDCT_US_2016_09_01:85444005 C0813147 Stage i endometrial carcinoma Carcinoma endometrial stage I | Stage I Cancer of Uterine Corpus AJCC v6 | Stage I Cancer of the Corpus Uteri AJCC v6 | Stage I Cancer of the Uterine Corpus AJCC v6 | Stage I Endometrial Cancer AJCC v6 | Stage I Endometrial Carcinoma | Stage I Uterine Corpus Cancer AJCC v6 | carcinoma of the endometrium, stage I | endometrial carcinoma, stage I | stage I cancer of the uterus | stage I carcinoma of the endometrium | stage I endometrial cancer NCI2016_02D:Stage I includes: I (T1, N0, M0); IA: (T1a, N0, M0); IB (T1b, N0, M0); IC (T1c, N0, M0). T1: Tumor confined to corpus uteri. T1a: Tumor limited to the endometrium. T1b: Tumor invades less than one-half of the myometrium. T1c: Tumor invades one-half or more of the myometrium. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003 | NCI2016_NCI-GLOSS_1602D:Cancer found in only the main part of the uterus, not the cervix. C2349448 Periodic headache syndromes in child or adolescent Periodic headache syndromes in child or adolescent | periodic headache syndromes in child or adolescent | periodic headache syndromes in child or adolescent (diagnosis) C4021160 Posterior plagiocephaly Deformational posterior plagiocephaly | Occipital plagiocephaly | Posterior plagiocephaly HPO2016_07_04:Asymmetry of the posterior part of the skull. [DDD:awilkie, pmid:10876272] HPO2016_07_04:HP:0011327 C0266054 Premature tooth eruption Accelerated tooth eruption | Advanced dental eruption | Advanced eruption of teeth | Dentia praecox | Early dental eruption | Early eruption of teeth | Eruption, advanced | Precocious dentition | Precocious tooth eruption | Premature dental eruption | Premature eruption of teeth | Premature eruption of tooth | Premature tooth eruption | Premature tooth eruption (disorder) | Tooth eruption, premature | dentia praecox | eruption of teeth; premature | premature tooth eruption | premature tooth eruption (diagnosis) | premature; tooth eruption | tooth eruption; premature HPO2016_07_04:Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. [HPO:ibailleulforestier, pmid:19125428] HPO2016_07_04:HP:0006288|ICD10CM_2017:K00.6|OMIM2016_04_17:MTHU010108|OMIM2016_04_17:MTHU019039|SNOMEDCT_US_2016_09_01:16000003 C1271100 Lower limb spasticity LOWER EXTREMITY SPASTICITY | Leg spasticity | Lower limb spasticity | Lower limb spasticity (finding) | Spasticity of the lower limbs | extremities lower spasticity | leg spasticity | legs spasticity | limb lower spasticity | lower limb spasticity HPO2016_07_04:Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis [HPO:probinson, UKT:rschuele] HPO2016_07_04:HP:0002061|OMIM2016_04_17:MTHU000471|OMIM2016_04_17:MTHU021249|SNOMEDCT_US_2016_09_01:392771000|SNOMEDCT_US_2016_09_01:393725002|SNOMEDCT_US_2016_09_01:394679006 C1456164 Erosion, localized Erosion, localized ICD9CM_2014:521.34 C4041080 Neurocognitive disorders Cognitive disorder due to disorder | Disorder, Neurocognitive | Disorders, Neurocognitive | Neurocognitive Disorder | Neurocognitive Disorders | Neurocognitive disorder | Neurocognitive disorder (disorder) MSH2017_2016_08_12:Diagnoses of DEMENTIA and AMNESTIC DISORDER are subsumed here. (DSM-5) | SCTSPA_2016_04_30:Un trastorno caracterizado principalmente por declinaci贸n de la funci贸n intelectual debida a enfermedad cerebral causada por diversas afecciones adquiridas, tales como enfermedad cerebrovascular, enfermedad de Alzheimer, infecciones, reacciones adversas a f谩rmacos y traumatismos. | SNOMEDCT_US_2016_09_01:A disorder characterised by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. | SNOMEDCT_US_2016_09_01:A disorder characterized by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. MSH2017_2016_08_12:D019965|SNOMEDCT_US_2016_09_01:709073001 C4280664 Big calvaria Big calvaria | Large calvaria HPO2016_07_04:HP:0000256 C4280678 Posterior displacement of the tongue Posterior displacement of the tongue HPO2016_07_04:HP:0000162 C3150989 Muscular dystrophy, limb-girdle, type 2q LGMD2Q | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q OMIM2016_04_17:601282|OMIM2016_04_17:613723 C0018834 Heartburn BRASH | Burning reflux | HEART BURN | HEARTBURN | Heart burn | Heartburn | Heartburn (finding) | Heartburn NOS | Heartburn [Disease/Finding] | Heartburn symptom | PYROSIS | Pyroses | Pyrosis | [D]Heartburn | [D]Heartburn (context-dependent category) | [D]Heartburn (situation) | [D]Heartburn NOS | [D]Heartburn NOS (context-dependent category) | [D]Heartburn NOS (situation) | [D]Pyrosis | [D]Pyrosis (context-dependent category) | [D]Pyrosis (situation) | acidity | brash | heartburn | heartburn (symptom) | pyrosis MEDLINEPLUS_20151021:Heartburn is a painful burning feeling in your chest or throat. It happens when stomach acid backs up into your esophagus, the tube that carries food from your mouth to your stomach.
If you have heartburn more than twice a week, you may have GERD. But you can have GERD without having heartburn.
Pregnancy, certain foods, alcohol, and some medications can bring on heartburn. Treating heartburn is important because over time reflux can damage the esophagus.
Over-the-counter medicines may help. If the heartburn continues, you may need prescription medicines or surgery.
If you have other symptoms such as crushing chest pain, it could be a heart attack. Get help immediately.
| MSH2017_2016_08_12:Substernal pain or burning sensation, usually associated with regurgitation of gastric juice into the esophagus. | NCI2016_02D:Abdominal discomfort with retrosternal pain usually associated with gastroesophageal reflux..(NICHD) | NCI2016_NICHD_1602D:Abdominal discomfort with retrosternal pain usually associated with gastroesophageal reflux. HPO2016_07_04:HP:0002020|ICD10CM_2017:R12|ICD9CM_2014:787.1|MSH2017_2016_08_12:D006356|SNOMEDCT_US_2016_09_01:139300004|SNOMEDCT_US_2016_09_01:158425009|SNOMEDCT_US_2016_09_01:158426005|SNOMEDCT_US_2016_09_01:158428006|SNOMEDCT_US_2016_09_01:16331000|SNOMEDCT_US_2016_09_01:207117006|SNOMEDCT_US_2016_09_01:207118001|SNOMEDCT_US_2016_09_01:207120003|SNOMEDCT_US_2016_09_01:271831008 C0022729 Klebsiella infections Infection, Klebsiella | Infections, Klebsiella | Klebsiella Infection | Klebsiella Infections | Klebsiella Infections [Disease/Finding] | Klebsiella infection | Klebsiella infection NOS | Klebsiella infections | Klebsiella; infection | infection klebsiella | infection; Klebsiella | klebsiella infection MSH2017_2016_08_12:Infections with bacteria of the genus KLEBSIELLA. MSH2017_2016_08_12:D007710|OMIM2016_04_17:MTHU007573 C0432252 Osteoporosis with pseudoglioma OPPG | OPS | OSTEOGENESIS IMPERFECTA, OCULAR FORM | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME | Osteogenesis imperfecta, ocular form | Osteoporosis with pseudoglioma | Osteoporosis with pseudoglioma (disorder) | Osteoporosis-pseudoglioma syndrome | Pseudoglioma with bone fragility | osteoporosis pseudoglioma | osteoporosis with pseudoglioma | osteoporosis-pseudoglioma syndrome | osteoporosis-pseudoglioma syndrome (OPS) JABL99:A rare syndrome characterized by generalized osteoporosis, pseudoglioma, and blindness usually due to retinal detachment. Mental retardation and ligamental laxity are variable manifestations. MSH2017_2016_08_12:C536063|OMIM2016_04_17:259770|OMIM2016_04_17:603506|SNOMEDCT_US_2016_09_01:254112001 C1835849 Congenital disorder of glycosylation, type im CDG Im | CDG1M | CDG1m | CDGIm | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im | Congenital Disorder Of Glycosylation, Type Im | DK1 DEFICIENCY | DOLICHOL KINASE DEFICIENCY | Dolichol Kinase Deficiency MSH2017_2016_08_12:C563666|OMIM2016_04_17:610746|OMIM2016_04_17:610768 C0264324 Calcification of trachea Calcification of the trachea | Calcification of trachea | Calcification of trachea (disorder) | Trachea calcifications | Tracheal Calcification | Tracheal calcification | Tracheal calcifications | Tracheal ectopic calcification | calcification; trachea | trachea; calcification | tracheal calcification | tracheal calcification (diagnosis) HPO2016_07_04:Calcification (abnormal deposits of calcium) in the tracheal tissues. [HPO:probinson, pmid:18663210] HPO2016_07_04:HP:0002787|OMIM2016_04_17:MTHU007984|OMIM2016_04_17:MTHU020582|SNOMEDCT_US_2016_09_01:81089005 C0595929 Serum cholesterol raised CHOLESTEROL SERUM ELEVATED | CHOLESTEROL SERUM INCREASED | Cholesterol Serum Increased | Cholesterol serum elevated | Cholesterol serum increased | ELEVATED SERUM CHOLESTEROL | Elevated serum cholesterol | Increased serum cholesterol | SERUM CHOLESTEROL ELEVATED | Serum cholesterol concentration increased above normal | Serum cholesterol increased | Serum cholesterol raised | Serum cholesterol raised (finding) | elevated serum cholesterol | increased serum cholesterol HPO2016_07_04:HP:0003124|OMIM2016_04_17:MTHU034260|SNOMEDCT_US_2016_09_01:144106004|SNOMEDCT_US_2016_09_01:166830008 C0279705 Thymoma, type b3 Atypical Thymoma | Epithelial Malignant Thymoma | Epithelial Thymoma | Epithelial malignant thymoma | Malignant Thymoma Type B3 | Squamoid Thymoma | Thymoma Type B3 | Thymoma, atypical | Thymoma, atypical, malignant | Thymoma, epithelial | Thymoma, epithelial, malignant | Thymoma, type B3 | Thymoma, type B3 (morphologic abnormality) | Thymoma, type B3, malignant | Thymoma, type B3, malignant (morphologic abnormality) | Well Differentiated Thymic Carcinoma | Well differentiated thymic carcinoma | Well-Differentiated Thymic Carcinoma | atypical thymoma | epithelial thymoma | malignant type B3 thymoma | malignant type B3 thymoma (diagnosis) | squamoid thymoma | type B3 thymoma | well-differentiated thymic carcinoma NCI2016_02D:Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases. SNOMEDCT_US_2016_09_01:128715000|SNOMEDCT_US_2016_09_01:128716004 C0280333 Nasal cavity squamous cell carcinoma Nasal Cavity Squamous Cell Carcinoma | Squamous Cell Carcinoma of Nasal Cavity | Squamous Cell Carcinoma of the Nasal Cavity | Squamous cell carcinoma of the nasal cavity | squamous cell carcinoma of nasal cavity | squamous cell carcinoma of nasal cavity (diagnosis) NCI2016_02D:A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass. C3150999 Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB | DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME OMIM2016_04_17:613729 C1856432 Dicarboxylic aciduria Dicarboxylic aciduria HPO2016_07_04:An increased concentration of dicarboxylic acid in the urine. [HPO:gcarletti] HPO2016_07_04:HP:0003215|OMIM2016_04_17:MTHU012739 C0376117 Inflamed seborrheic keratosis Inflamed seborrheic keratosis | Inflamed seborrheic keratosis (disorder) | Inflamed seborrhoeic keratosis | inflamed seborrheic keratosis | inflamed seborrheic keratosis (diagnosis) | seborrheic keratosis inflamed ICD10CM_2017:L82.0|ICD9CM_2014:702.11|SNOMEDCT_US_2016_09_01:442348004 C3805604 Foveal hypoplasia 1 FOVEAL HYPOPLASIA 1 | FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | FVH1 OMIM2016_04_17:136520|OMIM2016_04_17:607108 C1377785 Nasal cavity carcinoma Cancer of Nasal Cavity | Cancer of the Nasal Cavity | Carcinoma of Nasal Cavity | Carcinoma of the Nasal Cavity | Nasal Cavity Cancer | Nasal Cavity Carcinoma | Nasal cavity cancer | Nasal cavity cancer NOS | Nasal cavity carcinoma | carcinoma of nasal cavity | carcinoma of nasal cavity (diagnosis) NCI2016_02D:A malignant epithelial neoplasm arising in the nasal cavity. C0311267 Hill diarrhea HILL DIARRHEA | Hill diarrhea | Hill diarrhea (disorder) | Hill diarrhea syndrome | Hill diarrhoea SNOMEDCT_US_2016_09_01:65328007 C2931011 Congenital disorder of glycosylation, type 2g CDG IIG | CDG IIg | CDG2G | CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME | CDGIIG | CDGIIg | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg | Congenital Disorder Of Glycosylation, Type IIG | Congenital disorder of glycosylation, type 2G MSH2017_2016_08_12:C535756|OMIM2016_04_17:606973|OMIM2016_04_17:611209 C3275754 Upswept frontal hairline Upswept frontal hairline HPO2016_07_04:HP:0002236|OMIM2016_04_17:MTHU033119 C4022716 Bilateral breast hypoplasia Bilateral breast hypoplasia | Two underdeveloped breasts HPO2016_07_04:Underdevelopment of the breast on both sides. [HPO:probinson] HPO2016_07_04:HP:0012814 C0702094 Agranulocytosis lab result Agranulocytosis | Agranulocytosis lab result HPO2016_07_04:Marked decrease in the number of granulocytes. [HPO:probinson] | NCI2016_02D:A marked decrease in the number of mature granulocytes (most often neutrophils) in the peripheral blood. | NCI2016_NICHD_1602D:Severely low level of granulocytic white blood cells, particularly neutrophils, in the blood due to destruction of circulating cells or failed production by the bone marrow. HPO2016_07_04:HP:0012234 C1836772 Decreased movement range in interphalangeal joints Decreased movement range in interphalangeal joints | Decreased range of movement range in hinge joints HPO2016_07_04:HP:0006203|OMIM2016_04_17:MTHU001276 C3892048 Deafness, autosomal dominant 65 DEAFNESS, AUTOSOMAL DOMINANT 65 | DFNA65 OMIM2016_04_17:613577|OMIM2016_04_17:616044 C0268119 Combined molybdoflavoprotein enzyme deficiency Combined molybdoflavoprotein enzyme deficiency | Combined molybdoflavoprotein enzyme deficiency (disorder) | Combined xanthine oxidase and aldehyde oxidase deficiency | Combined xanthine oxidase and aldehyde oxidase deficiency (disorder) | Combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency | Combined xanthine oxidase and sulphite oxidase and aldehyde oxidase deficiency | Deficiency of molybdenum cofactor | Hereditary xanthinuria type 2 | Hereditary xanthinuria, type 2 | Molybdenum cofactor deficiency | SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF | Xanthine oxidase-sulfite oxidase deficiency | Xanthine oxidase-sulphite oxidase deficiency HPO2016_07_04:Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. [HPO:probinson] HPO2016_07_04:HP:0003570|MSH2017_2016_08_12:C535811|OMIM2016_04_17:252150|OMIM2016_04_17:MTHU042064|SNOMEDCT_US_2016_09_01:238008009|SNOMEDCT_US_2016_09_01:29692004 C4280426 Hypotrophic condylar process of mandible Hypotrophic condylar process of mandible HPO2016_07_04:HP:0007628 C4021741 Abnormal cortical bone morphology Abnormal compact bone morphology | Abnormal cortical bone morphology | Abnormality of cortical bone HPO2016_07_04:An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. [HPO:sdoelken] HPO2016_07_04:HP:0003103 C1332989 Childhood embryonal carcinoma of ovary Childhood Embryonal Carcinoma of Ovary | Childhood Embryonal Carcinoma of the Ovary | Childhood Ovarian Embryonal Carcinoma | Pediatric Embryonal Carcinoma of Ovary | Pediatric Embryonal Carcinoma of the Ovary | Pediatric Ovarian Embryonal Carcinoma NCI2016_02D:An embryonal carcinoma that arises from the ovary and occurs in children. C3862611 Patellofemoral syndrome of bilateral knees Patellofemoral syndrome of bilateral knees | Patellofemoral syndrome of bilateral knees (disorder) | patellofemoral syndrome of bilateral knees | patellofemoral syndrome of bilateral knees (diagnosis) SNOMEDCT_US_2016_09_01:12247221000119105 C0431391 Hemimegalencephaly Hemimegalencephalies | Hemimegalencephaly | Hemimegalencephaly (disorder) | Hemimegalencephaly [Disease/Finding] | Macrocephalies, Unilateral | Macrocephaly, Unilateral | Megalencephalies, Unilateral | Megalencephaly, Unilateral | Unilateral Macrocephalies | Unilateral Macrocephaly | Unilateral Megalencephalies | Unilateral Megalencephaly | hemimegalencephaly HPO2016_07_04:Enlargement of all or parts of one cerebral hemisphere. [HPO:probinson, pmid:17416820] | MSH2017_2016_08_12:Rare MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I characterized by the enlargement of one side of the brain. It is associated with seizures, partial paralysis, and mental retardation. HPO2016_07_04:HP:0007206|MSH2017_2016_08_12:D065705|OMIM2016_04_17:MTHU037012|SNOMEDCT_US_2016_09_01:253170008 C1860243 Sternal ossification center abnormalities Abnormal maturation of breastbone | Abnormal sternal ossification | Sternal ossification center abnormalities HPO2016_07_04:Any anomaly in the formation of the bony substance of the sternum. [HPO:probinson] HPO2016_07_04:HP:0011863|OMIM2016_04_17:MTHU014882 C4225226 Coenzyme q10 deficiency, primary, 8 COENZYME Q10 DEFICIENCY, PRIMARY, 8 | COQ10D8 OMIM2016_04_17:616733 C0338938 Hypochondriacal pain Hypochondriacal pain | Hypochondriacal pain (disorder) | Hypochondriacal pain (finding) | hypochondriacal pain (diagnosis) SNOMEDCT_US_2016_09_01:231510006|SNOMEDCT_US_2016_09_01:231515001 C1843896 Arrhythmogenic right ventricular dysplasia, familial, 8 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ARVC8 | ARVD8 | Arrhythmogenic Right Ventricular Cardiomyopathy 8 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 MSH2017_2016_08_12:C564400|OMIM2016_04_17:125647|OMIM2016_04_17:607450 C1279481 X-linked combined immunodeficiency diseases CIDX | COMBINED IMMUNODEFICIENCY, X-LINKED | Combined Immunodeficiency, X Linked | Combined Immunodeficiency, X-Linked | IMD4 | IMD6 | IMMUNODEFICIENCY 4 | IMMUNODEFICIENCY 6 | Immunodeficiency 4 | Immunodeficiency 6 | Immunodeficiency Disease, X-Linked | Immunodeficiency Diseases, X Linked Combined | Immunodeficiency Diseases, X-Linked | Immunodeficiency Diseases, X-Linked Combined | Immunodeficiency Syndrome, X-Linked | Immunodeficiency Syndromes, X-Linked | Immunodeficiency, X-Linked Combined | SCID - X-linked severe combined immunodeficiency | SCID, X Linked | SCID, X-LINKED | SCID, X-Linked | SCIDX | SCIDX1 | SCIDs, X-Linked | SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED | SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE | Severe Combined Immunodeficiency, X Linked | Severe Combined Immunodeficiency, X-Linked | Severe Combined Immunodeficiency, X-Linked, T Cell Negative, B Cell Positive, NK Cell Negative | Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, NK Cell-Negative | Syndromes, X-Linked Immunodeficiency | Thymic epithelial hypoplasia | X Linked Combined Immunodeficiency | X Linked Combined Immunodeficiency Diseases | X Linked Immunodeficiency Disease | X Linked Immunodeficiency Syndrome | X Linked SCID | X Linked Severe Combined Immunodeficiency | X-Linked Combined Immunodeficiencies | X-Linked Combined Immunodeficiency | X-Linked Combined Immunodeficiency Diseases | X-Linked Combined Immunodeficiency Diseases [Disease/Finding] | X-Linked Immunodeficiency Disease | X-Linked Immunodeficiency Diseases | X-Linked Immunodeficiency Syndrome | X-Linked Immunodeficiency Syndromes | X-Linked SCID | X-Linked SCIDs | X-Linked Severe Combined Immunodeficiency | X-SCID | X-linked lymphopaenic agammaglobulinaemia | X-linked lymphopaenic agammaglobulinemia | X-linked lymphopenic agammaglobulinemia | X-linked recessive | X-linked severe combined immunodeficiency | X-linked severe combined immunodeficiency (diagnosis) | X-linked severe combined immunodeficiency (disorder) | X-linked severe combined immunodeficiency [Ambiguous] | XCID | XSCID | XSCID - X-linked severe combined immunodeficiency MSH2017_2016_08_12:Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified. | NCI2016_02D:Rare congenital disorder inherited as an X-linked defect characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. MSH2017_2016_08_12:D053632|OMIM2016_04_17:300400|OMIM2016_04_17:308380|OMIM2016_04_17:312863|SNOMEDCT_US_2016_09_01:203592006|SNOMEDCT_US_2016_09_01:234569003 C1863881 Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation GIUFFRE-TSUKAHARA SYNDROME | RADIOULNAR SYNOSTOSIS WITH MICROCEPHALY, SHORT STATURE, SCOLIOSIS, AND MENTAL RETARDATION OMIM2016_04_17:603438 C0268117 Gout, hprt-related GOUT, HPRT-RELATED | Gout, HPRT-Related | HPRT DEFICIENCY, PARTIAL | HPRT Deficiency, Partial | HPRT1 DEFICIENCY, PARTIAL | HPRT1 Deficiency, Partial | HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY, PARTIAL | Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial | KELLEY-SEEGMILLER SYNDROME | Kelley-Seegmiller Syndrome | Kelley-Seegmiller syndrome | Partial HGPRT deficiency | Partial hypoxanthine-guanine phosphoribosyl transferase deficiency | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) MSH2017_2016_08_12:C562583|OMIM2016_04_17:300323|OMIM2016_04_17:308000|SNOMEDCT_US_2016_09_01:238007004|SNOMEDCT_US_2016_09_01:68655008 C1135220 Postphlebetic syndrome with inflammation Postphlebetic syndrome with inflammation ICD9CM_2014:459.12 C0155496 Active meniere's-cochleovestib Active Meniere's disease, cochleovestibular | Active Meniere's-cochleovestib | Active M茅ni猫re's disease, cochleovestibular | Active cochleovestibular Meniere's disease | Active cochleovestibular Meniere's disease (disorder) | Active cochleovestibular M茅ni猫re disease | Active cochleovestibular M茅ni猫re's disease | Active cochleovestibular M茅ni猫re's disease (disorder) | Cochleovestibular active Meniere's disease | Cochleovestibular active M茅ni猫re disease | Cochleovestibular active M茅ni猫re's disease | Cochleovestibular active M茅ni猫re's disease (disorder) | active Meniere's disease, cochleovestibular | active cochleovestibular Meniere's disease | active cochleovestibular Meniere's disease (diagnosis) ICD9CM_2014:386.01|SNOMEDCT_US_2016_09_01:194348002|SNOMEDCT_US_2016_09_01:8535002 C2240378 Cleft palate on exam cleft palate | cleft palate on exam | cleft palate on exam (physical finding) C0152079 Allen master syndrome Allen-Masters | Allen-Masters syndrome | Broad ligament laceration syndrome | Broad ligament laceration syndrome (disorder) | Ligamentum latum laceration syndrome | Masters-Allen | Masters-Allen syndrome | allen master syndrome | allen masters syndrome | allen-masters syndrome | broad ligament; laceration syndrome | laceration of broad ligament | laceration of broad ligament (diagnosis) | laceration; syndrome, broad ligament | masters-allen syndrome | syndrome; broad ligament laceration ICD9CM_2014:620.6|SNOMEDCT_US_2016_09_01:69186005 C0879606 Familial renal oncocytoma Familial Renal Oncocytoma | Hereditary Kidney Oncocytoma | Hereditary Renal Oncocytoma | familial renal oncocytoma NCI2016_02D:An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome. C0342750 Glycogen storage disease type id GLYCOGEN STORAGE DISEASE Id | GSD1D | GSD1d | Glucose transport defect | Glucose transport defect (disorder) | Glycogen Storage Disease Id | Glycogen storage disease type Id MSH2017_2016_08_12:C562806|OMIM2016_04_17:232240|SNOMEDCT_US_2016_09_01:237966006 C3658294 Hereditary antithrombin deficiency Congenital Antithrombin III Deficiency | Hereditary Antithrombin Deficiency MSH2017_2016_08_12:D020152 C0156361 Corpus luteum cyst or hematoma Corpus luteum cyst or haematoma | Corpus luteum cyst or hematoma ICD9CM_2014:620.1 C0520799 Acute radiation syndrome Acute Radiation Syndrome | Acute Radiation Syndrome [Disease/Finding] | Acute Radiation Syndromes | Acute radiation disease | Acute radiation disease (disorder) | Acute radiation syndrome | Radiation Syndrome, Acute | Radiation Syndromes, Acute MSH2017_2016_08_12:A condition caused by a brief whole body exposure to more than one sievert dose equivalent of radiation. Acute radiation syndrome is initially characterized by ANOREXIA; NAUSEA; VOMITING; but can progress to hematological, gastrointestinal, neurological, pulmonary, and other major organ dysfunction. MSH2017_2016_08_12:D054508|SNOMEDCT_US_2016_09_01:360002 C0742472 Central nervous system lymphoma CNS LYMPHOMA | CNS Lymphoma | Central Nervous System Lymphoma | Central nervous system lymphoma | Malignant Lymphomas of CNS | Malignant Lymphomas of the CNS | central lymphoma nervous system | central nervous system lymphoma | cns lymphoma | cns lymphomas | lymphoma cns | malignant lymphoma of central nervous system | malignant lymphoma of central nervous system (diagnosis) NCI2016_02D:A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis. | NCI2016_NCI-GLOSS_1602D:Cancer that forms in the lymph tissue of the brain, spinal cord, meninges (outer covering of the brain), or eye (called ocular lymphoma). C0242855 Congenital atresia of pulmonary valve Atresia of pulmonary valve, congenital | Atresia, Pulmonary | Atresia, Pulmonary Valve | Atresia;pulmonary | Atresias, Pulmonary | Atresias, Pulmonary Valve | Cong.atresia pulmon.valve NOS | Congen.atresia pulmonary valve | Congenital Atresia of the Pulmonary Valve | Congenital atresia of pulmonary valve | Congenital atresia of pulmonary valve (diagnosis) | Congenital atresia of pulmonary valve (disorder) | Congenital atresia of pulmonary valve NOS | Congenital atresia of pulmonary valve NOS (disorder) | Congenital atresia of the pulmonary valve | Congenital atresia of the pulmonary valve (disorder) | Congenital pulmonary valve atresia | PA - Pulmonary valve atresia | Pulmonary Atresia | Pulmonary Atresia [Disease/Finding] | Pulmonary Atresias | Pulmonary Valve Atresia | Pulmonary Valve Atresias | Pulmonary atresia | Pulmonary atresia (disorder) | Pulmonary valve atresia | Pulmonary valve atresia (disorder) | Valve Atresia, Pulmonary | Valve Atresias, Pulmonary | atresia pulmonary | atresia; pulmonary | atresia; pulmonary, valve | deformity; pulmonary valve, atresia | pulmonary atresia | pulmonary atresia (diagnosis) | pulmonary valve atresia | pulmonary valve atresia congenital | pulmonary valve; deformity, atresia | pulmonary; atresia HPO2016_07_04:A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop. [HPO:probinson] | MSH2017_2016_08_12:A congenital heart defect characterized by the narrowing or complete absence of the opening between the RIGHT VENTRICLE and the PULMONARY ARTERY. Lacking a normal PULMONARY VALVE, unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Clinical features include rapid breathing, CYANOSIS, right ventricle atrophy, and abnormal heart sounds (HEART MURMURS). | NCI2016_02D:A congenital heart defect characterized by complete atresia of the pulmonary valve. It is manifested during infancy with cyanosis, dyspnea, and tachypnea. | SCTSPA_2016_04_30:Atresia de la v谩lvula pulmonar y/o de la regi贸n subvalvular de la v谩lvula pulmonar | SNOMEDCT_US_2016_09_01:Atresia of the pulmonary valve and/or the subvalvular region of the pulmonary valve HPO2016_07_04:HP:0010882|ICD10CM_2017:Q22.0|ICD9CM_2014:746.01|MSH2017_2016_08_12:D018633|OMIM2016_04_17:MTHU004094|SNOMEDCT_US_2016_09_01:156920002|SNOMEDCT_US_2016_09_01:204342004|SNOMEDCT_US_2016_09_01:204344003|SNOMEDCT_US_2016_09_01:253589000|SNOMEDCT_US_2016_09_01:448564004|SNOMEDCT_US_2016_09_01:52670000 C1423873 Cone-rod dystrophy 9 CONE-ROD DYSTROPHY 9 | CORD9 OMIM2016_04_17:602713|OMIM2016_04_17:612775 C1848138 X inactivation, familial skewed, 1 SXI1 | X INACTIVATION, FAMILIAL SKEWED, 1 | X INACTIVATION, FAMILIAL SKEWED, 1 (disorder) | X Inactivation, Familial Skewed, 1 MSH2017_2016_08_12:C564716|OMIM2016_04_17:300087|OMIM2016_04_17:314670 C3887678 Cpnet CNS PNET | CNS Primitive Neuroectodermal Neoplasm | CNS Primitive Neuroectodermal Tumor | CPNET | Central Nervous System PNET | Central Nervous System Primitive Neuroectodermal Neoplasm | Central Nervous System Primitive Neuroectodermal Tumor | Central Nervous System Primitive Neuroectodermal Tumor (WHO Grade IV) | Central Primitive Neuroectodermal Neoplasm | Central Primitive Neuroectodermal Tumor | Central primitive neuroectodermal tumor | Central primitive neuroectodermal tumour | central nervous system primitive neuroectodermal tumor HPO2016_07_04:A primitive neuroectodermal neoplasm that occurs in the central nervous system. [] | NCI2016_02D:An aggressive malignant embryonal neoplasm arising from the central nervous system. This category includes ependymoblastoma, medulloepithelioma, and supratentorial primitive neuroectodermal tumor. It usually follows an aggressive clinical course. | NCI2016_NCI-GLOSS_1602D:A type of cancer that arises from a particular type of cell within the brain or spinal cord. HPO2016_07_04:HP:0030070|SNOMEDCT_US_2016_09_01:39781001 C0009225 Coenuriasis Coenuriases | Coenuriasis | Coenurosis | Coenurosis (disorder) | Gid | Infection by larvae of Multiceps | Infection by larvae of dog tapeworm | coenuriasis | coenurosis | coenurosis (diagnosis) CHV2011_02:a rare infection caused by larvae of the dog tapeworm ICD10CM_2017:B71.8|MSH2017_2016_08_12:D002590|SNOMEDCT_US_2016_09_01:24360007 C2919482 Rs3pe - remitting seronegative symmetric synovitis with pitting edema RS3PE - Remitting seronegative symmetric synovitis with pitting edema | RS3PE - Remitting seronegative symmetric synovitis with pitting oedema | Relapsing seronegative symmetrical synovitis with pitting edema | Relapsing seronegative symmetrical synovitis with pitting oedema | Remitting seronegative symmetrical synovitis with pitting edema | Remitting seronegative symmetrical synovitis with pitting edema (disorder) | Remitting seronegative symmetrical synovitis with pitting oedema SNOMEDCT_US_2016_09_01:445345005 C0393519 Cerebellar ataxia, early onset Cerebellar Ataxia, Early Onset | Early Onset Cerebellar Ataxia | Early onset cerebellar ataxia | Early onset cerebellar ataxia (disorder) | Early-onset cerebellar ataxia | ataxia early-onset | ataxia; cerebellar, early onset | cerebellar ataxia early-onset | cerebellar ataxia early-onset (diagnosis) | cerebellar; ataxia, early onset | early-onset ataxia ICD10CM_2017:G11.1|MSH2017_2016_08_12:D013132|SNOMEDCT_US_2016_09_01:230227009 C1839576 Optic atrophy 2 (disorder) OPA2 | OPTIC ATROPHY 2 | OPTIC ATROPHY 2 (disorder) | OPTIC ATROPHY, NON-LEBER TYPE, WITH EARLY ONSET | OPTIC ATROPHY, X-LINKED | Optic atrophy 2 | Optic atrophy, X-linked | Optic atrophy, non-Leber type, with early onset MSH2017_2016_08_12:C537125|OMIM2016_04_17:311050 C0497580 Condylomata acuminata in men Condyloma acuminatum;M | Condylomata acuminata in men | Condylomata acuminata male | condyloma acuminatum in male C0348574 Visual disturbances in diseases classified elsewhere Visual disturbances in diseases classified elsewhere | Visual disturbances/dis CE | [X]Visual disturbances in diseases classified elsewhere | [X]Visual disturbances in diseases classified elsewhere (disorder) | [X]Visual disturbances/dis CE SNOMEDCT_US_2016_09_01:194660005 C0393618 Other specified myoclonus Other specified myoclonus | Other specified myoclonus (disorder) SNOMEDCT_US_2016_09_01:192846005|SNOMEDCT_US_2016_09_01:267582006 C2930793 Achondroplastic dwarfism Achondroplastic dwarfism MSH2017_2016_08_12:C531599 C2677903 Mental retardation and microcephaly with pontine and cerebellar hypoplasia MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NAJM TYPE | MICPCH | MICPCH SYNDROME | MICPCH Syndrome | MRXSNA | Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia MSH2017_2016_08_12:C567466|OMIM2016_04_17:300172|OMIM2016_04_17:300749 C0025472 Mesenteric vascular occlusion Mesenteric Vascular Occlusion | Mesenteric Vascular Occlusion [Disease/Finding] | Mesenteric Vascular Occlusions | Mesenteric vascular occlusion | Occlusion, Mesenteric Vascular | Occlusions, Mesenteric Vascular | Vascular Occlusion, Mesenteric | Vascular Occlusions, Mesenteric MSH2017_2016_08_12:Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6) MSH2017_2016_08_12:D008641 C0345726 Neoplasm of supraglottis Neoplasm of Supraglottis | Neoplasm of supraglottis | Neoplasm of supraglottis (disorder) | Neoplasm of the Supraglottis | Supraglottic Neoplasm | Supraglottic Tumor | Supraglottis Neoplasm | Supraglottis Tumor | Tumor of Supraglottis | Tumor of supraglottis | Tumor of the Supraglottis | Tumour of supraglottis | laryngeal neoplasm supraglottis | neoplasm of supraglottis | neoplasm of supraglottis (diagnosis) NCI2016_02D:A benign or malignant neoplasm that affects the supraglottic area of the larynx. SNOMEDCT_US_2016_09_01:126697005 C1866095 Deafness, autosomal dominant 13 DEAFNESS, AUTOSOMAL DOMINANT 13 | DFNA13 | Deafness, Autosomal Dominant 13 MSH2017_2016_08_12:C566612|OMIM2016_04_17:120290|OMIM2016_04_17:601868 C0333519 Caries (morphologic abnormality) Caries | Caries (morphologic abnormality) | Caries, NOS SNOMEDCT_US_2016_09_01:65413006 C0748350 Respiratory arrest without trauma RESPIRATORY ARREST WITHOUT TRAUMA C4280668 Angioectasias of the tongue Angioectasias of the tongue | Lingual angioectasias | Spider veins of the tongue HPO2016_07_04:HP:0000227 C0265696 Sternum bifidum Bifid sternum | Bipartite sternum | Cleft sternum | Sternoschisis | Sternum bifidum | Sternum bifidum (disorder) | bifidum; sternum | cleft sternum | sternum cleft | sternum; bifidum HPO2016_07_04:The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum. [HPO:probinson] HPO2016_07_04:HP:0010309|ICD10CM_2017:Q76.7|SNOMEDCT_US_2016_09_01:54008006 C0340834 Hennekam lymphangiectasia lymphedema syndrome HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME | Hennekam Lymphangiectasia-Lymphedema Syndrome | Hennekam lymphangiectasia lymphedema syndrome | Hennekam lymphangiectasia-lymphedema syndrome | Hennekam lymphangiectasia-lymphedema syndrome (disorder) | Hennekam lymphangiectasia-lymphoedema syndrome | LYMPHATIC DYSPLASIA, GENERALIZED | Lymphangiectasies and lymphedema Hennekam type | Lymphatic Dysplasia, Generalized MSH2017_2016_08_12:C537255|OMIM2016_04_17:235510|SNOMEDCT_US_2016_09_01:234146006 C4072980 Exudative vitreoretinopathy Exudative vitreoretinopathy HPO2016_07_04:HP:0030490 C3277059 Congenital bilateral cataracts Bilateral cataracts | Bilateral congenital cataracts | Cataract, Congenital, Bilateral | Cataracts, lenticular, bilateral | Congenital Bilateral Cataracts | Congenital cataracts, bilateral NCI2016_02D:Cataract in both eyes that are present at birth. HPO2016_07_04:HP:0000519|OMIM2016_04_17:MTHU038874|OMIM2016_04_17:MTHU043325 C1845576 Unilateral chest hypoplasia Small chest on one side | Underdeveloped chest on one side | Unilateral chest hypoplasia HPO2016_07_04:HP:0005254|OMIM2016_04_17:MTHU008312 C3898222 Mucosal melanoma Mucosal Melanoma NCI2016_02D:A melanoma that arises from a mucosal site. C1843637 Neck flexor weakness Neck flexion weakness | Neck flexor muscle weakness | Neck flexor weakness | neck weakness on flexion | neck weakness on flexion (physical finding) | neck weakness was seen on flexion | weakness of neck on flexion | weakness of neck on flexion (physical finding) HPO2016_07_04:Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). [HPO:curators] HPO2016_07_04:HP:0003722|OMIM2016_04_17:MTHU005261|OMIM2016_04_17:MTHU010742|OMIM2016_04_17:MTHU042856 C0343052 Guttate psoriasis Guttate psoriasis | Guttate psoriasis (disorder) | Psoriasis guttata | guttata; psoriasis | guttate psoriasis | guttate psoriasis (diagnosis) | psoriasis guttata | psoriasis guttate | psoriasis; guttata ICD10CM_2017:L40.4|SNOMEDCT_US_2016_09_01:156371008|SNOMEDCT_US_2016_09_01:267851002|SNOMEDCT_US_2016_09_01:37042000 C0040028 Thrombocythemia, essential ESSENTIAL THROMBOCYTHEMIA | ET - Essential thrombocythaemia | ET - Essential thrombocythemia | Essential (haemorrhagic) thrombocythaemia | Essential (hemorrhagic) thrombocythemia | Essential Thrombocytemia | Essential Thrombocythemia | Essential Thrombocythemias | Essential Thrombocytosis | Essential haemorrhagic thrombocythaemia | Essential hemorrhagic thrombocythemia | Essential thrombocythaemia | Essential thrombocythaemia (clinical disorder) | Essential thrombocythaemia (clinical) | Essential thrombocythaemia (disorder) | Essential thrombocythemia | Essential thrombocythemia (clinical disorder) | Essential thrombocythemia (clinical) | Essential thrombocythemia (disorder) | Essential thrombocythemia (morphologic abnormality) | Essential thrombocytosis | Essential thrombocytosis (disorder) | Hemorrhagic Thrombocythemia | Hemorrhagic Thrombocythemias | Ideopathic thrombocytosis | Idiopathic (hemorrhagic) thrombocythemia | Idiopathic Thrombocythemia | Idiopathic Thrombocythemias | Idiopathic haemorrhagic thrombocythaemia | Idiopathic hemorrhagic thrombocythemia | Idiopathic thrombocythaemia | Idiopathic thrombocythaemia (disorder) | Idiopathic thrombocythaemia -RETIRED- | Idiopathic thrombocythemia | Idiopathic thrombocythemia (disorder) | Idiopathic thrombocythemia (morphologic abnormality) | Idiopathic thrombocythemia -RETIRED- | Idiopathic thrombocytosis | Primary Thrombocythemia | Primary Thrombocythemias | Primary Thrombocytoses | Primary Thrombocytosis | Primary thrombocythaemia | Primary thrombocythemia | Primary thrombocytosis | THROMBOCYTHEMIA IDIOPATHIC | THROMBOCYTHEMIA, ESSENTIAL, WITH HEMORRHAGIC DIATHESIS | THROMBOCYTHEMIA, HEMORRHAGIC | THROMBOCYTHEMIA, IDIOPATHIC | THROMBOCYTHEMIA, PRIMARY HEMORRHAGIC | THROMBOCYTOSIS ESSENTIAL | Thrombocythemia, Essential | Thrombocythemia, Essential [Disease/Finding] | Thrombocythemia, Hemorrhagic | Thrombocythemia, Idiopathic | Thrombocythemia, Primary | Thrombocythemias, Essential | Thrombocythemias, Hemorrhagic | Thrombocythemias, Idiopathic | Thrombocythemias, Primary | Thrombocytoses, Primary | Thrombocytosis, Primary | Thrombocytosis;essential | [M]Idiopathic thrombocythaemia | [M]Idiopathic thrombocythemia | essential hemorrhagic thrombocythemia | essential hemorrhagic thrombocythemia (diagnosis) | essential thrombocythaemia | essential thrombocythemia | essential thrombocythemia (diagnosis) | essential thrombocytosis | essential thrombocytosis (diagnosis) | hemorrhagic thrombocythemia | idiopathic thrombocythemia | idiopathic thrombocythemia (diagnosis) | primary thrombocythemia | primary thrombocytosis | primary thrombocytosis (diagnosis) | thrombocythemia essential | thrombocythemia, essential | thrombocytosis essential | thrombocytosis; essential CSP2006:clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets. | MSH2017_2016_08_12:A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets. | NCI2016_02D:A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008) | NCI2016_NCI-GLOSS_1602D:An increased number of thrombocytes (platelets) in the blood, without a known cause. ICD10CM_2017:D47.3|ICD9CM_2014:238.71|MSH2017_2016_08_12:D013920|OMIM2016_04_17:MTHU052359|SNOMEDCT_US_2016_09_01:109994006|SNOMEDCT_US_2016_09_01:128844009|SNOMEDCT_US_2016_09_01:189508006|SNOMEDCT_US_2016_09_01:189513005|SNOMEDCT_US_2016_09_01:189514004|SNOMEDCT_US_2016_09_01:191333009|SNOMEDCT_US_2016_09_01:234499005|SNOMEDCT_US_2016_09_01:307652003|SNOMEDCT_US_2016_09_01:65471002 C2733359 Psychogenic tremor Psychogenic Tremor | Psychogenic tremor | Psychogenic tremor (disorder) | psychogenic tremor (diagnosis) NCI2016_02D:Paroxysmal movements, behaviors and sensations similar to a tremor but due to psychological distress instead of a neurological disorder. | NCI2016_NICHD_1602D:Paroxysmal movements, behaviors and sensations similar to a tremor but due to psychological distress instead of a neurological disorder. SNOMEDCT_US_2016_09_01:443853005 C0405323 Breast engorgement in pregnancy, the puerperium or lactation - delivered with postnatal complication Breast engorgement in pregnancy, the puerperium or lactation - delivered with postnatal complication | Breast engorgement in pregnancy, the puerperium or lactation - delivered with postnatal complication (finding) | Breast engorgement in pregnancy/puerp/lact - del + p/n comp | Breast engorgement in pregnancy/puerperium/lact + p/n comp | Breast engorgement in pregnancy/puerperium/lact + p/n comp (finding) | Breast engorgement+p/n comp. | Breast engorgement-del+p/n com SNOMEDCT_US_2016_09_01:200419004|SNOMEDCT_US_2016_09_01:200421009 C0152101 Hypoplastic left heart syndrome HLH - Hypoplastic left heart syndrome | HLHS | HLHS - Hypoplastic left heart syndrome | HLHS1 | HYPOPLASTIC LEFT HEART | HYPOPLASTIC LEFT HEART SYNDROME | HYPOPLASTIC LEFT HEART SYNDROME 1 | Hypoplasia of left heart | Hypoplastic Left Heart Syndrome | Hypoplastic Left Heart Syndrome [Disease/Finding] | Hypoplastic left heart | Hypoplastic left heart syndrome | Hypoplastic left heart syndrome (disorder) | Left Heart Hypoplasia Syndrome | Left Heart Syndrome, Hypoplastic | Underdeveloped left heart | heart hypoplastic left | heart hypoplastic left syndrome | heart; hypoplasia, left heart (syndrome) | heart; hypoplasia, left heart syndrome | hypoplasia left heart | hypoplasia; heart, left heart (syndrome) | hypoplasia; heart, left heart syndrome | hypoplasia; left heart syndrome | hypoplastic left heart | hypoplastic left heart syndrome | hypoplastic left heart syndrome (diagnosis) | hypoplastic left-heart; syndrome | left heart hypoplastic | left heart syndrome; hypoplasia | left hypoplastic heart | syndrome; heart, hypoplastic left | syndrome; hypoplastic left-heart HPO2016_07_04:Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta. [HPO:probinson] | MSH2017_2016_08_12:A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes. | NCI2016_02D:A rare congenital cardiovascular disorder characterized by severe underdevelopment of the left side of the heart. Signs and symptoms include tachypnea, cyanosis, dyspnea, and lethargy. HPO2016_07_04:HP:0004383|ICD10CM_2017:Q23.4|ICD9CM_2014:746.7|MSH2017_2016_08_12:D018636|OMIM2016_04_17:121014|OMIM2016_04_17:241550|OMIM2016_04_17:MTHU013516|OMIM2016_04_17:MTHU017842|SNOMEDCT_US_2016_09_01:62067003 C0744295 Gastric leiomyosarcoma GASTRIC LEIOMYOSARCOMA | Gastric Leiomyosarcoma | Leiomyosarcoma of stomach | Leiomyosarcoma of stomach (disorder) | STOMACH LEIOMYOSARCOMA | gastric leiomyosarcoma | leiomyosarcoma of stomach | leiomyosarcoma of stomach (diagnosis) NCI2016_02D:An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells. SNOMEDCT_US_2016_09_01:447785000 C4020919 Dense metaphyseal bands Dense metaphyseal bands | Dense metaphyseal lines | Transverse metaphyseal bands HPO2016_07_04:Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. [HPO:sdoelken] HPO2016_07_04:HP:0100959 C1835044 Melanoma, cutaneous malignant, 2 CMM2 | MELANOMA, CUTANEOUS MALIGNANT, 2 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 OMIM2016_04_17:155601|OMIM2016_04_17:600160 C0030804 Pemphigoid, benign mucous membrane Benign Mucosal Pemphigoid | Benign Mucosal Pemphigoids | Benign Mucous Membrane Pemphigoid | Benign mm pemphigoid NOS | Benign mucosal pemphigoid | Benign mucosal pemphigus | Benign mucous membrane pemphigoid | Benign mucous membrane pemphigoid (disorder) | Benign mucous membrane pemphigoid NOS | Benign mucous membrane pemphigoid NOS (disorder) | Cicatricial Pemphigoid | Cicatricial pemphigoid | Mucosal Pemphigoid, Benign | Mucosal Pemphigoids, Benign | Mucosynechia atrophic bullous dermatitis | Mucosynechial atrophic bullous dermatitis | Mucous Membrane Pemphigoid, Benign | Mucous membrane pemphigoid | PEMPHIGOID, BENIGN MUCOSAL | PEMPHIGOID, CICATRIZING | Pemphigoid, Benign Mucosal | Pemphigoid, Benign Mucous Membrane | Pemphigoid, Benign Mucous Membrane [Disease/Finding] | Pemphigoid, Cicatricial | Pemphigoids, Benign Mucosal | Scarring pemphigoid | benign membrane mucous pemphigoid | bullous; eczema, mucosynechial, atrophic | cicatricial pemphigoid | cicatricial pemphigoid (diagnosis) | cicatricial; pemphigoid | eczema; bullous, mucosynechial, atrophic | mucosal pemphigoid benign | mucosynechial atrophic bullous dermatitis | mucosynechial atrophic bullous dermatitis (diagnosis) | mucous membrane pemphigoid | pemphigoid; cicatricial | scar; pemphigoid MSH2017_2016_08_12:A chronic blistering disease with predilection for mucous membranes and less frequently the skin, and with a tendency to scarring. It is sometimes called ocular pemphigoid because of conjunctival mucous membrane involvement. | NCI2016_02D:A chronic autoimmune disorder characterized by the development of blisters and ulcers in mucous membranes. It affects most often the gums, eyelids and genital mucosa sites. ICD10CM_2017:L12.1|ICD9CM_2014:694.6|MSH2017_2016_08_12:D010390|SNOMEDCT_US_2016_09_01:200913007|SNOMEDCT_US_2016_09_01:200915000|SNOMEDCT_US_2016_09_01:34250006 C4014700 Encephalopathy, progressive, with or without lipodystrophy ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY | PELD OMIM2016_04_17:606158|OMIM2016_04_17:615924 C0018889 Helminthiasis HELMINTHIASES | HELMINTHIASIS | HELMINTHIC INFECTIONS: GENERAL TERMS | HELMINTHIC INFECTIOUS DISEASES | Helminth infection | Helminth infection (disorder) | Helminth infection, NOS | Helminth infection, unspecified | Helminthiases | Helminthiases (B65-B83) | Helminthiasis | Helminthiasis (disorder) | Helminthiasis NOS | Helminthiasis NOS (disorder) | Helminthiasis [Disease/Finding] | Helminthiasis, unspecified | Helminthic infection | Helminthic infection NOS | Helminthosis | Infection caused by Class Cestoda and/or Class Trematoda and/or Phylum Nemata | Infection caused by Class Cestoda and/or Class Trematoda and/or Phylum Nemata (disorder) | Infection due to Class Cestoda and/or Class Trematoda and/or Phylum Nemata | Infection due to Class Cestoda and/or Class Trematoda and/or Phylum Nemata (disorder) | Infestation (by);worms | WORM | Worm infection | Worm infestation | Worms | Worms NOS | Worms, NOS | [X]Helminthiasis, unspecified | [X]Helminthiasis, unspecified (disorder) | helminth infection | helminth infections | helminth parasite infection | helminthes; infection | helminthes; infestation | helminthiases | helminthiasis | helminthiasis (diagnosis) | helminthic infection | helminthic infections | infection; helminthes | infection; worms | infestation; helminthes | infestation; worms | worm infection | worm infestation | worms | worms infestation | worms; infection | worms; infestation CSP2006:diseases caused by parasitic worms of the helminth class. | MSH2017_2016_08_12:Infestation with parasitic worms of the helminth class. | NCI2016_02D:A parasitic infection characterized by the infestation with worms, mainly in the intestine. ICD10CM_2017:B65-B83|ICD10CM_2017:B83.9|ICD9CM_2014:120-129.99|ICD9CM_2014:128.9|MSH2017_2016_08_12:D006373|SNOMEDCT_US_2016_09_01:154410004|SNOMEDCT_US_2016_09_01:187189004|SNOMEDCT_US_2016_09_01:187518006|SNOMEDCT_US_2016_09_01:187542005|SNOMEDCT_US_2016_09_01:266219000|SNOMEDCT_US_2016_09_01:27601005 C1838019 Inflammatory bowel disease 9 IBD9 | INFLAMMATORY BOWEL DISEASE 9 | Inflammatory Bowel Disease 9 MSH2017_2016_08_12:C563926|OMIM2016_04_17:608448 C4025604 Parathormone-independent increased renal tubular calcium reabsorption Parathormone-independent increased renal tubular calcium reabsorption HPO2016_07_04:An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels. [HPO:probinson, pmid:23802516] HPO2016_07_04:HP:0003529 C1854023 Spinal muscular atrophy, jerash type DSMA2 | HMNJ | Hereditary motor neuropathy, Jerash type | Motor neuropathy, distal, Jerash type | NEURONOPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE | NEUROPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE | Neuronopathy, Distal Hereditary Motor, Jerash Type | Neuropathy, distal hereditary motor, Jerash type | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 | SPINAL MUSCULAR ATROPHY, JERASH TYPE | Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 | Spinal muscular atrophy, Jerash type MSH2017_2016_08_12:C535715|OMIM2016_04_17:605726 C0406240 Light-sensitive atopic eczema Light-sensitive atopic eczema | Photoaggravated atopic dermatitis | Photoaggravated atopic dermatitis (disorder) | Photoaggravated atopic eczema | Photosensitive atopic dermatitis | Photosensitive atopic dermatitis (disorder) | Photosensitive atopic eczema SNOMEDCT_US_2016_09_01:238547001|SNOMEDCT_US_2016_09_01:238548006 C0232710 Diarrhea, achlorhydric Achlorhydric diarrhea | Achlorhydric diarrhoea | Chronic constipation with overflow | Chronic constipation with overflow (disorder) | Diarrhea, achlorhydric | Diarrhea, spurious | Diarrhoea;spurious | Overflow diarrhea | Overflow diarrhoea | Overflow incontinence due to constipation | Spurious diarrhea | Spurious diarrhoea | achlorhydric; diarrhea | diarrhea; achlorhydric | spurious diarrhea | spurious diarrhoea SNOMEDCT_US_2016_09_01:191971009|SNOMEDCT_US_2016_09_01:31499008 C0149640 Cecum carcinoma CECAL CARCINOMA | Caecum carcinoma | Carcinoma of Cecum | Carcinoma of caecum | Carcinoma of cecum | Carcinoma of cecum (diagnosis) | Carcinoma of cecum (disorder) | Carcinoma of the Cecum | Cecal Cancer | Cecum Carcinoma | Cecum carcinoma | caecum carcinoma | carcinoma cecum | cecal carcinoma | cecum carcinoma | malignant large intestine neoplasm of cecum carcinoma NCI2016_02D:A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. SNOMEDCT_US_2016_09_01:154459000|SNOMEDCT_US_2016_09_01:187756005|SNOMEDCT_US_2016_09_01:255081007|SNOMEDCT_US_2016_09_01:269538009 C0085574 Palindromic rheumatism Hench - Rosenberg syndrome | Hench-Rosenberg syndrome | Palindromic Rheumatism | Palindromic rheum.-site unspec | Palindromic rheumatism | Palindromic rheumatism (disorder) | Palindromic rheumatism NOS | Palindromic rheumatism NOS (disorder) | Palindromic rheumatism of unspecified site | Palindromic rheumatism of unspecified site (disorder) | Palindromic rheumatism syndrome | Palindromic rheumatism, site unspecified | Palindromic rheumatism, unspecified site | RHEUMATISM, PALINDROMIC | Rheumatism, palindromic | palindromic rheumatism | palindromic; rheumatism | rheumatism; palindromic ICD10CM_2017:M12.3|ICD10CM_2017:M12.30|ICD9CM_2014:719.3|ICD9CM_2014:719.30|MSH2017_2016_08_12:C538103|SNOMEDCT_US_2016_09_01:202455001|SNOMEDCT_US_2016_09_01:202456000|SNOMEDCT_US_2016_09_01:202466008|SNOMEDCT_US_2016_09_01:50442003 C1333876 Granulomatous endometritis Granulomatous Endometritis NCI2016_02D:Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis. C1866121 Autoimmune lymphoproliferative syndrome, type i, autosomal recessive AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE | Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive MSH2017_2016_08_12:C566615|OMIM2016_04_17:601859 C0265886 Overriding aorta OVERRIDING AORTA | Overriding Aorta | Overriding aorta | Overriding aorta (disorder) | aorta overriding | overriding aorta | overriding aorta (diagnosis) HPO2016_07_04:An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle. [HPO:curators] | NCI2016_02D:A congenital anatomic anomaly in which the aorta is positioned directly above a ventricular septal defect, thus receiving blood from both the right and left ventricles, resulting in an overall decrease In oxygenated haemoglobin and tissue cyanosis. | NCI2016_CDISC_1602D:Biventricular origin of the aorta. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) HPO2016_07_04:HP:0002623|OMIM2016_04_17:MTHU007210|SNOMEDCT_US_2016_09_01:204424008|SNOMEDCT_US_2016_09_01:204429003|SNOMEDCT_US_2016_09_01:63934006 C0423074 Incomitant heterophoria Incomitant heterophoria | Incomitant heterophoria (disorder) SNOMEDCT_US_2016_09_01:35319002 C1838440 Ichthyosis exfoliativa ICHTHYOSIS EXFOLIATIVA | Ichthyosis Exfoliativa MSH2017_2016_08_12:C563978|OMIM2016_04_17:146800|OMIM2016_04_17:600194 C1858709 Hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION | SM2 OMIM2016_04_17:604201 C0431384 Colpocephaly Colpocephaly | Colpocephaly (disorder) | colpocephaly | colpocephaly (diagnosis) | congenital malformation brain colpocephaly HPO2016_07_04:Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. [] HPO2016_07_04:HP:0030048|MSH2017_2016_08_12:C535973|OMIM2016_04_17:MTHU007201|SNOMEDCT_US_2016_09_01:253160006 C1562503 Vein of galen malformations Galen Malformations Veins | Malformations Vein, Galen | Malformations Veins, Galen | Vein of Galen Malformation | Vein of Galen Malformations | Vein of Galen Malformations [Disease/Finding] | Vein of Galen malformation | Vein of Galen malformation (diagnosis) | Vein of Galen malformation (disorder) | congenital anomaly vein of galen malformation MSH2017_2016_08_12:Congenital arteriovenous malformation involving the VEIN OF GALEN, a large deep vein at the base of the brain. The rush of arterial blood directly into the vein of Galen, without passing through the CAPILLARIES, can overwhelm the heart and lead to CONGESTIVE HEART FAILURE. | NCI2016_02D:An arteriovenous malformation in the vein of Galen that is located at the base of the brain. The malformation may result in developmental delays, hydrocephalus, seizures, and congestive heart failure. MSH2017_2016_08_12:D054080|SNOMEDCT_US_2016_09_01:416792008 C1838547 Melanoma-pancreatic cancer syndrome FAMILIAL ATYPICAL MULTIPLE MOLE MELANOMA-PANCREATIC CARCINOMA SYNDROME | FAMMMPC | FAMMMPC Syndrome | Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome | MELANOMA-PANCREATIC CANCER SYNDROME | Melanoma-Pancreatic Cancer Syndrome MSH2017_2016_08_12:C563985|OMIM2016_04_17:600160|OMIM2016_04_17:606719 C0341201 Drug-induced gi disturbance Drug-induced GI disturbance | Drug-induced gastrointestinal disturbance | Drug-induced gastrointestinal disturbance (disorder) SNOMEDCT_US_2016_09_01:196757008 C0347873 Epilepsy, psychosensory Epilepsy, psychosensory | Psychosensory epilepsy | Psychosensory epilepsy (disorder) | epilepsy; psychosensory | psychosensory; epileptic SNOMEDCT_US_2016_09_01:193002005 C0744461 Gout new onset GOUT NEW ONSET C4023125 Decreased activity of mitochondrial atp synthase complex Decreased activity of mitochondrial ATP synthase complex HPO2016_07_04:A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain. [HPO:probinson] HPO2016_07_04:HP:0011925 C0004698 Balkan nephropathy BALKAN ENDEMIC NEPHROPATHY | BEN | Balkan Endemic Nephropathy | Balkan Nephropathy | Balkan Nephropathy [Disease/Finding] | Balkan endemic nephropathy | Balkan nephritis syndrome | Balkan nephropathy | Balkan nephropathy (diagnosis) | Balkan nephropathy (disorder) | Balkan; nephritis | Balkan; nephropathy | DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY | DEFN | Danubian Endemic Familial Nephropathy | Endemic Nephropathy, Balkan | NEPHROPATHIA EPIDEMICA | Nephropathy, Balkan | Nephropathy, Balkan Endemic | nephritis; Balkan | nephropathy; Balkan MSH2017_2016_08_12:A form of chronic interstitial nephritis that is endemic to limited areas of BULGARIA, the former YUGOSLAVIA, and ROMANIA. It is characterized by a progressive shrinking of the KIDNEYS that is often associated with uroepithelial tumors. ICD10CM_2017:N15.0|MSH2017_2016_08_12:D001449|OMIM2016_04_17:124100|SNOMEDCT_US_2016_09_01:197748005|SNOMEDCT_US_2016_09_01:26121002 C1840391 Pseudohypoaldosteronism, type iic PHA2C | PSEUDOHYPOALDOSTERONISM, TYPE IIC | Pseudohypoaldosteronism, Type IIc MSH2017_2016_08_12:C564162|OMIM2016_04_17:605232|OMIM2016_04_17:614492 C4024936 Temporal cortical atrophy Temporal cortical atrophy HPO2016_07_04:Atrophy of the temporal cortex. [HPO:probinson] HPO2016_07_04:HP:0007112 C1846979 Senior-loken syndrome 4 SENIOR-LOKEN SYNDROME 4 | SLSN4 | Senior-Loken syndrome 4 MSH2017_2016_08_12:C537581|OMIM2016_04_17:606996|OMIM2016_04_17:607215 C1333265 Deep angioma Deep Angioma | Deep Hemangioma NCI2016_02D:A hemangioma arising from the deep soft tissues. C1836904 Spastic/hyperactive bladder Spastic/hyperactive bladder HPO2016_07_04:HP:0005340|OMIM2016_04_17:MTHU001398 C0155435 Other eustach.tube disord. nos Other disorder of Eustachian tube | Other disorders of Eustachian tube | Other eustach.tube disord. NOS | Other eustachian tube disorder | Other eustachian tube disorder (disorder) | Other eustachian tube disorder NOS | Other eustachian tube disorder NOS (disorder) ICD9CM_2014:381.8|ICD9CM_2014:381.89|SNOMEDCT_US_2016_09_01:194277003|SNOMEDCT_US_2016_09_01:194278008 C0264456 Copper fever Copper fever | Copper fever (disorder) SNOMEDCT_US_2016_09_01:43098002 C0029445 Bone necrosis BONE NECROSIS | Bone Necroses | Bone Necrosis | Bone necrosis | Bone necrosis (disorder) | Bones--Necrosis | NECROSIS BONE | Necroses, Bone | Necrosis bone | Necrosis of bone | Necrosis of bone NOS | Necrosis, Bone | Necrosis;bone | OSTEONECROSIS | Osteochondronecrosis | Osteonecroses | Osteonecrosis | Osteonecrosis [Disease/Finding] | Osteonecrosis, unspecified | Unspecified osteonecrosis | bone necrosis | bone; necrosis | necrosis of bone | necrosis; bone | osteonecrosis CHV2011_02:bone death due to lack of blood circulation | CHV2011_02:death of a bone or part of a bone | CSP2006:death of a bone or part of a bone, either atraumatic or posttraumatic. | MEDLINEPLUS_20151021:Osteonecrosis is a disease caused by reduced blood flow to bones in the joints. In people with healthy bones, new bone is always replacing old bone. In osteonecrosis, the lack of blood causes the bone to break down faster than the body can make enough new bone. The bone starts to die and may break down.
You can have osteonecrosis in one or several bones. It is most common in the upper leg. Other common sites are your upper arm and your knees, shoulders and ankles. The disease can affect men and women of any age, but it usually strikes in your thirties, forties or fifties.
At first, you might not have any symptoms. As the disease gets worse, you will probably have joint pain that becomes more severe. You may not be able to bend or move the affected joint very well.
No one is sure what causes the disease. Risk factors include
Doctors use imaging tests and other tests to diagnose osteonecrosis. Treatments include medicines, using crutches, limiting activities that put weight on the affected joints, electrical stimulation and surgery.
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
| MSH2017_2016_08_12:Death of a bone or part of a bone, either atraumatic or posttraumatic. | NCI2016_02D:Death of bone tissue due to traumatic or nontraumatic causes. | NCI2016_NICHD_1602D:Death of bone tissue. HPO2016_07_04:HP:0010885|ICD10CM_2017:M87|ICD10CM_2017:M87.9|MSH2017_2016_08_12:D010020|OMIM2016_04_17:MTHU012842|SNOMEDCT_US_2016_09_01:240196003|SNOMEDCT_US_2016_09_01:34686004|SNOMEDCT_US_2016_09_01:398199007 C1518693 Ovarian clear cell adenocarcinoma Ovarian Clear Cell Adenocarcinoma | clear cell adenocarcinoma of ovary | clear cell adenocarcinoma of ovary (diagnosis) NCI2016_02D:A malignant glandular epithelial tumor characterized by the presence of clear and hobnail cells. The tumor is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia. C4280447 Unerupted adult dentition Unerupted adult dentition | Unerupted adult teeth | Unerupted permanent dentition | Unerupted permanent teeth HPO2016_07_04:HP:0006352 C1860247 Prominent glabella Convex glabella | Hyperplasia of glabella | Prominent area between the eyebrows | Prominent glabella | Protruding area between the eyebrows HPO2016_07_04:Forward protrusion of the glabella. [HPO:probinson, pmid:19125436] HPO2016_07_04:HP:0002057|OMIM2016_04_17:MTHU014887 C0520720 Cyst nerve root Cyst of Nerve Root | Cyst of the Nerve Root | Cyst, Perineural | Cyst, Perineurial | Cyst, Sacral Perineural | Cysts, Perineural | Cysts, Perineurial | Cysts, Sacral Perineural | Cysts, Sacral Tarlov | Cysts, Tarlov | Nerve Root Cyst | Nerve root cyst | Perineural Cyst | Perineural Cysts | Perineurial Cyst | Perineurial Cysts | Perineurial cyst | Perineurial cyst (disorder) | Sacral Perineural Cyst | Sacral Perineural Cysts | Sacral Tarlov Cysts | Tarlov Cyst | Tarlov Cysts | Tarlov Cysts [Disease/Finding] | Tarlov cyst | Tarlov's cyst | cyst nerve root | cyst tarlov | cyst tarlovs | cysts nerve root | cysts perineural | cysts perineurial | cysts tarlov | cysts tarlov's | nerve root cyst | perineural cyst | perineural cysts | perineurial cyst | root nerve cyst | tarlov cyst | tarlov cyst (diagnosis) | tarlov cysts | tarlov's cyst MSH2017_2016_08_12:Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself. | NCI2016_02D:Cyst of the nerve roots filled with cerebrospinal fluid, usually located in the sacral area of the spine. MSH2017_2016_08_12:D052958|SNOMEDCT_US_2016_09_01:81634008 C0346379 Malignant melanoma of ciliary body Ciliary Body Malignant Melanoma | Ciliary Body Melanoma | Ciliary body melanoma | Malignant Melanoma of Ciliary Body | Malignant Melanoma of the Ciliary Body | Malignant melanoma of ciliary body | Malignant melanoma of ciliary body (disorder) | Melanoma of Ciliary Body | Melanoma of the Ciliary Body | eye neoplasm malignant melanoma ciliary body | eye neoplasm malignant melanoma ciliary body (diagnosis) HPO2016_07_04:Malignant tumor of melanocytes of the ciliary body. [HPO:probinson] | NCI2016_02D:A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor. HPO2016_07_04:HP:0012055|SNOMEDCT_US_2016_09_01:255015006 C1848873 Diaphragmatic defect Abnormality of the diaphragm | Diaphragmatic defect HPO2016_07_04:Any abnormality of the diaphragm. [HPO:probinson] HPO2016_07_04:HP:0000775|OMIM2016_04_17:MTHU009127 C0149887 Slipped capital femoral epiphyses Adolescent Coxa Vara | Adolescent Coxa Varas | COXA VARA, ADOLESCENT | COXA VARA, EPIPHYSEAL | Coxa Vara, Adolescent | EPIPHYSIOLYSIS CAPITIS FEMORIS | EPIPHYSIOLYSIS, PROXIMAL FEMORAL | EPIPHYSIS, FEMUR, SEPARATION | Epiphysiolysis Capitis Femoris | FEMUR, EPIPHYSIS, SLIPPING | Proximal femoral epiphysiolysis | SCFE | SLIPPED CAPITAL FEMORAL EPIPHYSIS | SLIPPED FEMORAL CAPITAL EPIPHYSES | Slipped Capital Femoral Epiphyses | Slipped Capital Femoral Epiphyses [Disease/Finding] | Slipped Capital Femoral Epiphysis | Slipped Femoral Capital Epiphyses | Slipped capilal femoral epiphysis | Slipped capital femoral epiphyses | Slipped end part of innermost thighbone | Slipped femoral capital epiphysis | capital epiphysis femoral slipped | slipped femoral capital epiphysis HPO2016_07_04:Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt. [HPO:probinson] | MSH2017_2016_08_12:A developmental deformity in which the metaphysis of the FEMUR moves proximally and anteriorly away from FEMUR HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and is associated with a greater risk of early OSTEOARTHRITIS of the hip. | NCI2016_02D:Separation of the femoral head and neck through the epiphyseal plate. | NCI2016_NICHD_1602D:Separation of the femoral head and neck through the epiphyseal plate. HPO2016_07_04:HP:0006461|MSH2017_2016_08_12:D060048|OMIM2016_04_17:182260|OMIM2016_04_17:MTHU010296|OMIM2016_04_17:MTHU020848 C4014454 Spermatogenic failure 14 SPERMATOGENIC FAILURE 14 | SPGF14 OMIM2016_04_17:615842 C1836767 Proximal lower limb muscle atrophy Amyotrophy involving the thigh | Amyotrophy of the thigh musculature | Proximal lower limb amyotrophy | Proximal lower limb muscle atrophy | Thigh muscle atrophy | Wasting of thigh muscle | atrophy of thigh muscles | thigh muscle atrophy | thigh muscles decreasing in size | thigh muscles decreasing in size (symptom) HPO2016_07_04:Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. [HPO:probinson] HPO2016_07_04:HP:0008956|OMIM2016_04_17:MTHU001270 C1136220 Counseling, directive Counseling, Directive | Counseling, Prescriptive | Directive Counseling | Prescriptive Counseling MSH2017_2016_08_12:Counseling during which a professional plays an active role in a client's or patient's decision making by offering advice, guidance, and/or recommendations. MSH2017_2016_08_12:D037001 C0022656 Kidney cortex necrosis Cortical necrosis NOS | KIDNEY CORTEX NECROSIS | Kidney Cortex Necrosis | Kidney Cortex Necrosis [Disease/Finding] | Kidney cortex necrosis | NECROSIS KIDNEY CORTEX | Necrosis kidney cortex | Necrosis of cortex of kidney | Necrosis of cortex of kidney (disorder) | Necrosis, Kidney Cortex | Necrosis, Renal Cortical | Nephropathy NOS with cortical necrosis | Nephropathy NOS with renal cortical necrosis | RENAL CORTICAL NECROSIS | Renal Cortical Necrosis | Renal cortical necrosis | Renal cortical necrosis NOS | cortical; necrosis | necrosis; cortical | nephropathy renal cortical necrosis | renal cortical necrosis | renal cortical necrosis (diagnosis) MSH2017_2016_08_12:Death of cells in the KIDNEY CORTEX, a common final result of various renal injuries including HYPOXIA; ISCHEMIA; and drug toxicity. ICD10CM_2017:N17.1|MSH2017_2016_08_12:D007673|SNOMEDCT_US_2016_09_01:444691002|SNOMEDCT_US_2016_09_01:45456005 C1274904 Pruritus due to systemic disorder Pruritus due to systemic disorder | Pruritus due to systemic disorder (disorder) SNOMEDCT_US_2016_09_01:403575000 C0021070 Immunoproliferative disease Disorder, Immunoproliferative | Disorders, Immunoproliferative | IMMUNOPROLIFERATIVE DISEASES | Immunoproliferative Diseases | Immunoproliferative Disorder | Immunoproliferative Disorders | Immunoproliferative Disorders [Disease/Finding] | Immunoproliferative disease | Immunoproliferative disease (morphologic abnormality) | Immunoproliferative disease - morphology | Immunoproliferative disease - morphology (morphologic abnormality) | Immunoproliferative disease NOS | Immunoproliferative disease, NOS | Immunoproliferative disease, no ICD-O subtype | Immunoproliferative disease, no ICD-O subtype (morphologic abnormality) | Immunoproliferative disease, no International Classification of Diseases for Oncology subtype | Immunoproliferative disease, no International Classification of Diseases for Oncology subtype (morphologic abnormality) | Immunoproliferative disorder | Immunoproliferative disorder (disorder) | disease (or disorder); immunoproliferative | immunoproliferative disease | immunoproliferative; disease MSH2017_2016_08_12:Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins. ICD10CM_2017:C88.9|MSH2017_2016_08_12:D007160|SNOMEDCT_US_2016_09_01:127071007|SNOMEDCT_US_2016_09_01:134363002|SNOMEDCT_US_2016_09_01:86295000 C0265213 Distal arthrogryposis syndrome Arthrogryposis, distal | Distal arthrogryposis | Distal arthrogryposis syndrome | Distal arthrogryposis syndrome (disorder) | distal arthrogryposis | distal arthrogryposis syndrome HPO2016_07_04:A form of arthrogryposis primarily affecting the hands and the feet. [HPO:probinson] HPO2016_07_04:HP:0005684|OMIM2016_04_17:MTHU029237|SNOMEDCT_US_2016_09_01:24269006 C0151571 Lesion corneal CORNEAL LESION | Corneal lesion | Corneal lesion (disorder) | Corneal lesion NOS | Corneal lesion, NOS | LESION CORNEAL | Lesion corneal SNOMEDCT_US_2016_09_01:63725005 C1332133 Abstinence syndrome Abstinence Syndrome NCI2016_02D:A syndrome which occurs following withdrawal of an abused substance. Clinical signs vary depending on the substance that was abused and may include irritability, trembling and vomiting. The clinical course depends on the ability to manage the withdrawal symptoms. C1859965 Alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS | Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus | STIMMLER SYNDROME | Stimmler Syndrome MSH2017_2016_08_12:C565968|OMIM2016_04_17:202900 C2750076 Miyoshi muscular dystrophy 3 MIYOSHI MUSCULAR DYSTROPHY 3 | MIYOSHI MYOPATHY 3 | MMD3 | Miyoshi Muscular Dystrophy 3 | Miyoshi Myopathy 3 MSH2017_2016_08_12:C567645|OMIM2016_04_17:608662|OMIM2016_04_17:613319 C0334315 Clear cell adenoma ADENOMA, CLEAR CELL, BENIGN | Clear Cell Adenoma | Clear cell adenoma | Clear cell adenoma (morphologic abnormality) NCI2016_02D:A benign neoplasm composed of glands containing epithelial clear cells. | NCI2016_CDISC_1602D:A benign neoplasm comprising glands containing epithelial clear cells. SNOMEDCT_US_2016_09_01:1752006 C3810343 Sacral agenesis with vertebral anomalies SACRAL AGENESIS WITH VERTEBRAL ANOMALIES | SAVA OMIM2016_04_17:601397|OMIM2016_04_17:615709 C1276068 Atopic dermatitis of eyelid Atopic dermatitis of eyelid | Atopic dermatitis of eyelid (disorder) | Atopic dermatitis of eyelids | Atopic eczema of eyelids SNOMEDCT_US_2016_09_01:402193002 C0156168 Diverticulosis of colon with haemorrhage Diverticulosis of colon with haemorrhage | Diverticulosis of colon with hemorrhage ICD9CM_2014:562.12 C1532602 Diabetic retinopathy with clinically significant macular edema in right eye O/E - right eye clinically significant macular edema | O/E - right eye clinically significant macular oedema | O/E - right eye clinically significant macular oedema (context-dependent category) | O/E - right eye clinically significant macular oedema (disorder) | On examination - clinically significant macular edema of right eye | On examination - clinically significant macular edema of right eye (disorder) | On examination - clinically significant macular oedema of right eye | On examination - right eye clinically significant macular edema | On examination - right eye clinically significant macular oedema | On examination - right eye clinically significant macular oedema (disorder) | diabetic retinopathy with clinically significant macular edema in right eye | diabetic retinopathy with clinically significant macular edema in right eye (physical finding) SNOMEDCT_US_2016_09_01:414908005 C1848294 Deafness, x linked 3 (disorder) DFNX3 | DFNX3 gene | deafness, X-linked 3 C2873856 Essential cryoglobulinemia Essential cryoglobulinemia ICD10CM_2017:D89.1 C0395905 Postauricular fistula Pit behind the ear | Postaural fistula | Postaural mastoid fistula | Postaural mastoid fistula (disorder) | Postauricular earpits | Postauricular fistula | Postauricular fistula (disorder) | Postauricular fistula, unspecified ear | Postauricular pit | Posterior auricular pit | Posterior auricular sinus | fistula; postauricular | postauricular fistula | postauricular fistula (diagnosis) | postauricular; fistula HPO2016_07_04:Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit. [HPO:sdoelken] HPO2016_07_04:HP:0004464|ICD10CM_2017:H70.81|ICD10CM_2017:H70.819|ICD9CM_2014:383.81|OMIM2016_04_17:MTHU019206|SNOMEDCT_US_2016_09_01:194307000|SNOMEDCT_US_2016_09_01:43887004 C0338418 Acute necrotizing encephalitis Acute Necrotizing Encephalitides | Acute Necrotizing Encephalitis | Acute necrotising encephalitis | Acute necrotising viral encephalitis | Acute necrotizing encephalitis | Acute necrotizing encephalitis (diagnosis) | Acute necrotizing encephalitis (disorder) | Acute necrotizing viral encephalitis | Encephalitides, Acute Necrotizing | Encephalitis, Acute Necrotizing | Necrotizing Encephalitides, Acute | Necrotizing Encephalitis, Acute | acute necrotizing encephalitis | viral encephalitis acute necrotizing MSH2017_2016_08_12:D004684|SNOMEDCT_US_2016_09_01:111897007 C1261470 Congenital meningocele Central Nervous System Meningocele | Congenital hernia of dura mater | Congenital meningocele | Congenital meningocele (disorder) | Congenital meningocele (disorder) [Ambiguous] | Congenital meningocele, NOS | MENINGOCELE | Meningocele | Meningocele (morphologic abnormality) | Meningocele, NOS | meningocele NCI2016_02D:A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium. OMIM2016_04_17:MTHU049652|SNOMEDCT_US_2016_09_01:172069000|SNOMEDCT_US_2016_09_01:204016007|SNOMEDCT_US_2016_09_01:253110000|SNOMEDCT_US_2016_09_01:253121009|SNOMEDCT_US_2016_09_01:32941003 C0241128 Nikolsky sign NIKOLSKY SIGN | Nikolsky sign | Nikolsky sign (finding) | Nikolsky's sign | SKIN MOVABLE OVER CUTIS | nikolsky sign | nikolsky's sign HPO2016_07_04:HP:0100792|SNOMEDCT_US_2016_09_01:441837004 C1968561 Xeroderma pigmentosum, type g-cockayne syndrome XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME | XPG/CS | Xeroderma Pigmentosum, Type G-Cockayne Syndrome | Xpg-Cs MSH2017_2016_08_12:C566879|OMIM2016_04_17:278780 C0033036 Atrial premature complexes APC | ATRIAL BEAT PREMATURE | Atrial Beat, Premature | Atrial Beats, Premature | Atrial Complex, Premature | Atrial Complices, Premature | Atrial Contraction, Premature | Atrial Contractions, Premature | Atrial Ectopic Beat | Atrial Ectopic Beats | Atrial Extrasystole | Atrial Extrasystoles | Atrial Premature Complex | Atrial Premature Complex (APC) | Atrial Premature Complexes | Atrial Premature Complexes [Disease/Finding] | Atrial Premature Complices | Atrial ectopic | Atrial ectopic beats | Atrial extrasystoles | Atrial premature beats | Atrial premature complex | Atrial premature complex (disorder) | Atrial premature complex (finding) | Atrial premature complex [Ambiguous] | Atrial premature contractions | Atrial premature depolarisation | Atrial premature depolarization | Atrial premature systoles | EXTRASYSTOLES ATRIAL | EXTRASYSTOLES SUPRAVENTRICULAR | Ectopic Beat, Atrial | Ectopic Beats, Atrial | Ectopic atrial beats | Ectopic atrial beats (disorder) | Ectopic atrial beats, NOS | Ectopic supraventricular rhythms | Extrasystole, Atrial | Extrasystoles atrial | Extrasystoles supraventricular | Extrasystoles, Atrial | PAC | PAC - Premature atrial contraction | PACs | PREMATURE ATRIAL BEATS | PREMATURE ATRIAL CONTRACTION | Premature Atrial Beat | Premature Atrial Beats | Premature Atrial Complex | Premature Atrial Complices | Premature Atrial Contraction | Premature Atrial Contractions | Premature Complex, Atrial | Premature Complexes, Atrial | Premature Complices, Atrial | Premature Supraventricular Beat | Premature Supraventricular Beats | Premature atrial beats | Premature atrial contraction | Premature atrial contraction (PAC) | Premature atrial contraction (disorder) | Premature atrial contractions | Premature beat atrial | Premature supraventricular beats | SUPRAVENTRICULAR ECTOPIC BEAT | SUPRAVENTRICULAR EXTRASYSTOLES | SVE | Supraventriciular premature contraction | Supraventricular Beat, Premature | Supraventricular Beats, Premature | Supraventricular Ectopic Beats | Supraventricular ectopic beats | Supraventricular ectopic beats (disorder) | Supraventricular ectopics | Supraventricular extrasystoles | Supraventricular premature beats | Supraventricular premature beats (disorder) | Supraventricular premature contraction | apc | apcs | atrial ectopic | atrial ectopic beat | atrial ectopic beats | atrial ectopics | atrial premature beat | atrial premature beats | atrial premature complex | atrial premature complex (diagnosis) | atrial premature complexes | atrial premature contractions | atrial premature depolarization | atrial premature depolarization (diagnosis) | atrium; ectopic beats | atrium; extrasystoles | atrium; premature contraction | beat; premature, atrial | beats; ectopia, atrial | beats; premature, atrial | contraction; premature, atrium | ectopia; atrial beats | ectopia; beats, atrial | ectopic atrial beats | extrasystoles; atrial | premature atrial beat | premature atrial beats | premature atrial complex | premature atrial complexes | premature atrial contraction | premature atrial contractions | premature atrial systole | premature atrial systoles | premature depolarization atrial | premature; beat, atrial | premature; beats, atrial | premature; contraction, atrial | supraventricular extrasystole | supraventricular premature beats | supraventricular premature beats (diagnosis) HPO2016_07_04:A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. [] | MSH2017_2016_08_12:A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. The ectopic signals may or may not conduct to the HEART VENTRICLES. Atrial premature complexes are characterized by premature P waves on ECG which are different in configuration from the P waves generated by the normal pacemaker complex in the SINOATRIAL NODE. HPO2016_07_04:HP:0006699|ICD10CM_2017:I49.1|ICD9CM_2014:427.61|MSH2017_2016_08_12:D018880|OMIM2016_04_17:MTHU032819|OMIM2016_04_17:MTHU038506|SNOMEDCT_US_2016_09_01:155366006|SNOMEDCT_US_2016_09_01:195094000|SNOMEDCT_US_2016_09_01:251169001|SNOMEDCT_US_2016_09_01:284470004|SNOMEDCT_US_2016_09_01:287057009|SNOMEDCT_US_2016_09_01:406461004|SNOMEDCT_US_2016_09_01:60299007|SNOMEDCT_US_2016_09_01:63593006|SNOMEDCT_US_2016_09_01:73712003 C1864171 Peroxisome biogenesis disorder, complementation group 12 CG12 | PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 12 | Peroxisome Biogenesis Disorder, Complementation Group 12 MSH2017_2016_08_12:C566405|OMIM2016_04_17:614882 C1863006 Ameloonychohypohidrotic syndrome AMELOONYCHOHYPOHIDROTIC SYNDROME | Amelo-onycho-hypohidrotic syndrome | Ameloonychohypohidrotic syndrome | Ameloonychohypohidrotic syndrome (disorder) | Hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis SNOMEDCT_US_2016_09_01:A rare syndrome comprising hypocalcified-hypoplastic tooth enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis. MSH2017_2016_08_12:C538245|OMIM2016_04_17:104570|SNOMEDCT_US_2016_09_01:715404000 C1846129 Terminal osseous dysplasia and pigmentary defects ODPD | ODPF | ODPF SYNDROME | OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLE FRENULA | Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula | TERMINAL OSSEOUS DYSPLASIA | TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS | TOD | TODPD | Terminal Osseous Dysplasia and Pigmentary Defects MSH2017_2016_08_12:C564554|OMIM2016_04_17:300017|OMIM2016_04_17:300244 C4029298 Ergotamine induced headache with intractable headache ergotamine induced headache with intractable headache | ergotamine induced headache with intractable headache (diagnosis) | vasoconstrictor induced headache - ergotamine, with intractable headache C3150191 Coloboma, ocular, and ichthyosis, brain malformations, and endocrine abnormalities CDG Iq | CDG1Q | CDGIq | COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq | Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities MSH2017_2016_08_12:C567328|OMIM2016_04_17:611715|OMIM2016_04_17:612379 C0005974 Bone resorption Bone Loss, Osteoclastic | Bone Losses, Osteoclastic | Bone Resorption | Bone Resorption [Disease/Finding] | Bone Resorptions | Bone resorption | Bone resorption (function) | Bone resorption, NOS | Bone resorption, function | Bone resorption, function (observable entity) | Loss, Osteoclastic Bone | Losses, Osteoclastic Bone | Osteoclastic Bone Loss | Osteoclastic Bone Losses | Resorption, Bone | Resorptions, Bone | bone resorption | osteoclastic bone loss GO2016_05_01:The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. [GOC:mah, PMID:10968780] | MSH2017_2016_08_12:Bone loss due to osteoclastic activity. MSH2017_2016_08_12:D001862|SNOMEDCT_US_2016_09_01:22200009 C0221505 Lesion of brain BRAIN LESION | Brain Lesions | Brain lesion | CEREBRAL LESION | Cerebral Lesions | Lesion of brain | Lesion of brain (finding) | brain lesion | brain lesions | brain; lesion | cerebral lesion | cerebral lesions | lesion; brain SNOMEDCT_US_2016_09_01:301766008 C1837552 Charcot-marie-tooth disease, axonal, type 2l (disorder) CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2L | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder) | CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L | CMT2L OMIM2016_04_17:608014|OMIM2016_04_17:608673 C3661523 Congenital intestinal aganglionosis Congenital Intestinal Aganglionosis MSH2017_2016_08_12:D006627 C0730328 Central serous chorioretinopathy CSC | CSC - Central serous choroidopathy | CSR - Central serous retinopathy | CSR - central serous retinopathy | Central Serous Chorioretinopathies | Central Serous Chorioretinopathy | Central Serous Chorioretinopathy [Disease/Finding] | Central Serous Retinopathies | Central Serous Retinopathy | Central serous chorioretinopathy | Central serous chorioretinopathy (disorder) | Central serous choroidopathy | Central serous retinopathy | Central serous retinopathy (disorder) | Chorioretinopathies, Central Serous | Chorioretinopathy, Central Serous | Retinopathies, Central Serous | Retinopathy, Central Serous | Serous Chorioretinopathies, Central | Serous Chorioretinopathy, Central | Serous Retinopathies, Central | Serous Retinopathy, Central | central serous chorioretinopathy | central serous retinopathy | central serous retinopathy (diagnosis) | central serous; retinopathy | chorioretinopathy; central serous | choroidoretinopathy; central serous | retinopathy; central serous MSH2017_2016_08_12:A visual impairment characterized by the accumulation of fluid under the retina through a defect in the retinal pigment epithelium. | NCI2016_02D:A self-resolving eye condition characterized by fluid accumulation under the macula in the retina. It results from leakage of fluid from the choroid. It usually affects one eye only and the vast majority of patients regain full vision. ICD10CM_2017:H35.71|ICD9CM_2014:362.41|MSH2017_2016_08_12:D056833|SNOMEDCT_US_2016_09_01:312956001|SNOMEDCT_US_2016_09_01:91224005 C0334593 Monstrocellular sarcoma Monstrocellular sarcoma | Monstrocellular sarcoma (morphologic abnormality) | Monstrocellular sarcoma -RETIRED- SNOMEDCT_US_2016_09_01:189923008|SNOMEDCT_US_2016_09_01:33556008 C0038870 Neuralgia, supraorbital Neuralgia, Supraorbital | Neuralgias, Supraorbital | Supraorbital Neuralgia | Supraorbital Neuralgias | Supraorbital neuralgia | Supraorbital neuralgia (disorder) MSH2017_2016_08_12:D009437|SNOMEDCT_US_2016_09_01:175004 C2748515 Spondyloepimetaphyseal dysplasia, pakistani type BCYM4 | BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | SEMD, PAKISTANI TYPE | SEMD, Pakistani Type | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE | Spondyloepimetaphyseal Dysplasia, Pakistani Type MSH2017_2016_08_12:C567551|OMIM2016_04_17:603005|OMIM2016_04_17:612847 C0039841 Thiamine deficiency Aneurin deficiency | Deficiencies, Thiamine | Deficiency, Thiamine | THIAMINE DEFICIENCY | Thiamin deficiency | Thiamin deficiency (disorder) | Thiamin deficiency, NOS | Thiamine Deficiencies | Thiamine Deficiency | Thiamine Deficiency [Disease/Finding] | Thiamine defic, unspecif | Thiamine deficiency | Thiamine deficiency disease | Thiamine deficiency, unspecified | VITAMIN B1 DEFICIENCY | Vitamin B1 deficiency | Vitamin B1 deficiency, NOS | [X]Thiamine defic, unspecif | [X]Thiamine deficiency, unspecified | [X]Thiamine deficiency, unspecified (disorder) | aneurin; deficiency | deficiencies thiamin | deficiency thiamin | deficiency thiamine | deficiency vitamin b1 | deficiency; aneurin | deficiency; thiamine | deficiency; vitamin, B1 | deficiency; vitamin, thiamine | thiamin deficiency | thiamine deficiency | thiamine; deficiency | vitamin B1 deficiency | vitamin B1 deficiency (diagnosis) | vitamin b1 deficiency | vitamin; deficiency, B1 | vitamin; deficiency, thiamine CSP2006:nutritional condition produced by a deficiency of thiamine in the diet, characterized by anorexia, irritability, and weight loss; later, patients experience weakness, peripheral neuropathy, headache, and tachycardia; in addition to being caused by a poor diet, thiamine deficiency in the United States most commonly occurs as a result of alcoholism, since ethanol interferes with thiamine absorption. | MSH2017_2016_08_12:A nutritional condition produced by a deficiency of THIAMINE in the diet, characterized by anorexia, irritability, and weight loss. Later, patients experience weakness, peripheral neuropathy, headache, and tachycardia. In addition to being caused by a poor diet, thiamine deficiency in the United States most commonly occurs as a result of alcoholism, since ethanol interferes with thiamine absorption. In countries relying on polished rice as a dietary staple, BERIBERI prevalence is very high. (From Cecil Textbook of Medicine, 19th ed, p1171) HPO2016_07_04:HP:0100503|ICD10CM_2017:E51|ICD10CM_2017:E51.9|MSH2017_2016_08_12:D013832|SNOMEDCT_US_2016_09_01:154725000|SNOMEDCT_US_2016_09_01:190624008|SNOMEDCT_US_2016_09_01:190628006|SNOMEDCT_US_2016_09_01:191088004|SNOMEDCT_US_2016_09_01:267491008|SNOMEDCT_US_2016_09_01:35843007|SNOMEDCT_US_2016_09_01:399357009 C0564715 Benign genital neoplasm Benign genital neoplasm | Benign genital neoplasm (disorder) SNOMEDCT_US_2016_09_01:154619007|SNOMEDCT_US_2016_09_01:286904004 C0018891 Animal helminthiases Animal Helminthiases | Animal Helminthiasis | Helminthiases, Animal | Helminthiasis, Animal | Helminthiasis, Animal [Disease/Finding] MSH2017_2016_08_12:Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary. MSH2017_2016_08_12:D006374 C1849265 Overgrowth Overgrowth HPO2016_07_04:Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. [HPO:probinson] HPO2016_07_04:HP:0001548|OMIM2016_04_17:MTHU009517 C0741096 Upper_ext problem UPPER_EXT PROBLEM | Upper extremity problem C4014233 Immunodeficiency 22 IMD22 | IMMUNODEFICIENCY 22 OMIM2016_04_17:615758 C1835887 Diabetes mellitus, transient neonatal, 2 (disorder) DIABETES MELLITUS, TRANSIENT NEONATAL, 2 | DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) | Diabetes Mellitus, Transient Neonatal, 2 | Diabetes mellitus, transient neonatal 2 | Diabetes mellitus, transient neonatal 2 (disorder) | TNDM2 MSH2017_2016_08_12:C563672|OMIM2016_04_17:600509|OMIM2016_04_17:610374|SNOMEDCT_US_2016_09_01:609580007 C4024818 Night blindness, progressive Night blindness, progressive | Progressive night blindness HPO2016_07_04:HP:0007675|OMIM2016_04_17:MTHU048834 C1867448 Multiple pterygia Multiple pterygia | Pterygia, multiple HPO2016_07_04:HP:0001040|OMIM2016_04_17:MTHU015853|OMIM2016_04_17:MTHU028299 C0024904 Mastoiditis MASTOIDITIS | Mastoiditides | Mastoiditis | Mastoiditis (disorder) | Mastoiditis NOS | Mastoiditis NOS (disorder) | Mastoiditis [Disease/Finding] | Mastoiditis, NOS | Mastoiditis, unspecified | Unspecified mastoiditis | Unspecified mastoiditis, unspecified ear | mastoiditis | mastoiditis (diagnosis) MSH2017_2016_08_12:Inflammation of the honeycomb-like MASTOID BONE in the skull just behind the ear. It is usually a complication of OTITIS MEDIA. HPO2016_07_04:HP:0000265|ICD10CM_2017:H70.9|ICD10CM_2017:H70.90|ICD9CM_2014:383.9|MSH2017_2016_08_12:D008417|OMIM2016_04_17:MTHU005996|SNOMEDCT_US_2016_09_01:155230007|SNOMEDCT_US_2016_09_01:194309002|SNOMEDCT_US_2016_09_01:52404001 C1266159 Epithelioid trophoblastic tumor Epithelioid Trophoblastic Tumor | Epithelioid trophoblastic tumor | Epithelioid trophoblastic tumor (disorder) | Epithelioid trophoblastic tumour | Trophoblastic tumor, epithelioid | Trophoblastic tumor, epithelioid (morphologic abnormality) | Trophoblastic tumour, epithelioid | malignant epithelioid trophoblastic tumor | malignant epithelioid trophoblastic tumor (diagnosis) NCI2016_02D:A gestational trophoblastic tumor characterized by the presence of a monomorphus cellular population of intermediate trophoblastic cells infiltrating in a nodular pattern. SNOMEDCT_US_2016_09_01:128767001|SNOMEDCT_US_2016_09_01:609515005 C1290098 Neoplasm of skin of perianal region Neoplasm of perianal skin | Neoplasm of perianal skin (disorder) | neoplasm of skin of perianal region | neoplasm of skin of perianal region (diagnosis) | neoplasm of the perianal skin SNOMEDCT_US_2016_09_01:126514006 C2700553 Omenn syndrome Familial Reticuloendothelioses | Familial Reticuloendotheliosis | OMENN SYNDROME | Omenn Syndrome | Omenn syndrome | Omenn's Syndrome | Omenn's syndrome | Omenns Syndrome | Reticuloendothelioses, Familial | Reticuloendotheliosis, Familial | Syndrome, Omenn | Syndrome, Omenn's NCI2016_02D:An autosomal recessive combined immunodeficiency syndrome caused by mutations in the RAG-1 and RAG-2 genes. It is characterized by the presence of alopecia, erythroderma, desquamation, lymphadenopathy, and chronic diarrhea. MSH2017_2016_08_12:D016511|OMIM2016_04_17:179615|OMIM2016_04_17:179616|OMIM2016_04_17:603554|OMIM2016_04_17:605988|SNOMEDCT_US_2016_09_01:307650006|SNOMEDCT_US_2016_09_01:33374000 C0155792 Esophageal varices with bleeding in diseases ec Esophageal varices in diseases classifed elsewhere, with bleeding | Esophageal varices in diseases classified elsewhere, with bleeding | Esophageal varices with bleeding in diseases EC | Esophageal varices with bleeding in diseases EC (disorder) | Oesoph.varic.+dis.EC+bleeding | Oesophageal varices in diseases classified elsewhere, with bleeding | Oesophageal varices with bleeding in diseases EC | bleeding esophageal varices in diseases classified elsewhere | esophageal varices in disease classified elsewhere with bleeding | esophageal varices in disease classified elsewhere with bleeding (diagnosis) ICD9CM_2014:456.20|SNOMEDCT_US_2016_09_01:195475003 C2939419 Cancer metastatic CA - Secondary cancer | CANCER METASTATIC | Metastases | Metastasis | Metastatic Cancer | Metastatic Malignant Neoplasm | Metastatic cancer | Metastatic disease | Metastatic malignant disease | Metastatic neoplasm | Metastatic neoplasm (disease) | Neoplasm, metastatic | Neoplasm, metastatic (morphologic abnormality) | Neoplasm, secondary | Secondaries | Secondary Ca NOS | Secondary Ca NOS (disorder) | Secondary Neoplasm | Secondary Tumor | Secondary cancer | Secondary malignancies | Secondary malignant deposit | Secondary malignant neoplastic disease | Secondary malignant neoplastic disease (disorder) | Secondary neoplasm | Secondary tumor | Secondary tumour | Tumor metastasis | Tumor, metastatic | Tumor, secondary | Tumour metastasis | Tumour, metastatic | Tumour, secondary | [M]Neoplasm, metastatic | [M]Secondary neoplasm | cancer; metastatic | metastatic; cancer or neoplasm | neoplasm; metastatic | secondary neoplasm | secondary tumor NCI2016_02D:A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site. | NCI2016_02D:A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment. SNOMEDCT_US_2016_09_01:128462008|SNOMEDCT_US_2016_09_01:14799000|SNOMEDCT_US_2016_09_01:154574001|SNOMEDCT_US_2016_09_01:189543007|SNOMEDCT_US_2016_09_01:269622008|SNOMEDCT_US_2016_09_01:302818005|SNOMEDCT_US_2016_09_01:79282002 C0747771 Postmenopausal symptom POSTMENOPAUSAL SYMPTOM | POSTMENOPAUSAL SYNDROME | Postmenopausal symptoms | Postmenopausal syndrome | postmenopausal symptoms | postmenopausal syndrome C1855622 Cartilaginous ossification of larynx Cartilaginous ossification of larynx HPO2016_07_04:Ossification affecting the set of cartilages of larynx. [HPO:probinson] HPO2016_07_04:HP:0008747|OMIM2016_04_17:MTHU011986 C3279699 Encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY | Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency | MC5DN2 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE MSH2017_2016_08_12:C567528|OMIM2016_04_17:612418|OMIM2016_04_17:614052 C0685891 Congenital hypoplasia of thymus Congenital hypoplasia of thymus | Congenital hypoplasia of thymus (disorder) | Congenital small thymus | Hypoplasia of the thymus | THYMUS, HYPOPLASIA | Thymic hypoplasia | Thymus hypoplasia | hypoplasia of thymus | hypoplasia of thymus (diagnosis) | hypoplasia; thymus | thymic hypoplasia | thymus; hypoplasia HPO2016_07_04:Underdevelopment of the thymus. [HPO:curators] HPO2016_07_04:HP:0000777|HPO2016_07_04:HP:0000778|OMIM2016_04_17:MTHU008324|OMIM2016_04_17:MTHU014314|SNOMEDCT_US_2016_09_01:93297002 C2678485 Long qt syndrome 9 (disorder) LONG QT SYNDROME 2/9, DIGENIC | LONG QT SYNDROME 9 | LONG QT SYNDROME 9 (disorder) | LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO | LQT2/9, DIGENIC | LQT9 | Long Qt Syndrome 2-9 | Long Qt Syndrome 9 | lqt9 | lqt9 (diagnosis) MSH2017_2016_08_12:C567515|OMIM2016_04_17:601253|OMIM2016_04_17:611818 C3853172 Generalized epilepsy with febrile seizures plus, non-intractable Generalized epilepsy with febrile seizures plus, non-intractable | Generalized epilepsy with febrile seizures plus, non-refractory | Generalized epilepsy with febrile seizures plus, non-refractory (disorder) SNOMEDCT_US_2016_09_01:444451000124106 C1860245 Cranial asymmetry Asymmetry of cranium | Cranial asymmetry | Cranial vault asymmetry HPO2016_07_04:Asymmetry of the bones of the skull. [HPO:curators] HPO2016_07_04:HP:0000267|OMIM2016_04_17:MTHU014885 C1859298 Spinocerebellar ataxia, autosomal recessive 2 Autosomal recessive cerebelloparenchymal disorder type 3 | Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | CEREBELLAR GRANULAR CELL HYPOPLASIA AND MENTAL RETARDATION, CONGENITAL | CEREBELLAR HYPOPLASIA, NONPROGRESSIVE NORMAN TYPE | CEREBELLOPARENCHYMAL DISORDER III | CPD III | CPD3 | Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital | Cerebellar Hypoplasia, Nonprogressive Norman Type | Cerebelloparenchymal Disorder III | Cerebelloparenchymal disorder III | SCAR2 | SCAR2 (spinocerebellar ataxia autosomal recessive 2) | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 | Spinocerebellar Ataxia, Autosomal Recessive 2 SNOMEDCT_US_2016_09_01:In this disorder cerebellar ataxia is congenital (non-progressive) and characterised by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. The mode of inheritance in the few reported families is autosomal recessive. | SNOMEDCT_US_2016_09_01:In this disorder cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. The mode of inheritance in the few reported families is autosomal recessive. MSH2017_2016_08_12:C565865|OMIM2016_04_17:213200|OMIM2016_04_17:613036|SNOMEDCT_US_2016_09_01:715369006 C4072897 Decreased serum insulin-like growth factor 1 Decreased serum insulin-like growth factor 1 HPO2016_07_04:A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation. [HPO:probinson] HPO2016_07_04:HP:0030353 C0477360 Other dystonia Other dystonia | [X]Other dystonia | [X]Other dystonia (disorder) | [X]Other dystonia (finding) ICD10CM_2017:G24.8|SNOMEDCT_US_2016_09_01:194472006 C3502809 Generalized epilepsy with febrile seizures plus GEFS+ | Generalised epilepsy with febrile seizures plus | Generalized Epilepsy with Febrile Seizures Plus | Generalized epilepsy with febrile seizures plus | Generalized epilepsy with febrile seizures plus (disorder) NCI2016_02D:A rare, genetically heterogeneous disorder caused by mutations in the SCN1A, GABRG2, GABRD, SCN9A, or STX1B genes. It is characterized by early childhood onset febrile seizures, generalized tonic-clonic seizures, absence seizures, myoclonic seizures, and atonic seizures MSH2017_2016_08_12:C565808|SNOMEDCT_US_2016_09_01:699688008 C1969653 Mungan syndrome MGS | MUNGAN SYNDROME | Mungan Syndrome | PSEUDOOBSTRUCTION, CHRONIC IDIOPATHIC INTESTINAL, WITH BARRETT ESOPHAGUS AND CARDIAC ABNORMALITIES | Pseudoobstruction, Chronic Idiopathic Intestinal, With Barrett Esophagus And Cardiac Abnormalities | VISCERAL NEUROMYOPATHY, FAMILIAL, WITH PSEUDOOBSTRUCTION, MEGADUODENUM, BARRETT ESOPHAGUS, AND CARDIAC ABNORMALITIES | Visceral Neuromyopathy, Familial, With Pseudoobstruction, Megaduodenum, Barrett Esophagus, And Cardiac Abnormalities MSH2017_2016_08_12:C548078|OMIM2016_04_17:611376 C1862005 Epidermolytic hyperkeratosis, late-onset EPIDERMOLYTIC HYPERKERATOSIS, LATE-ONSET | Epidermolytic Hyperkeratosis, Late-Onset MSH2017_2016_08_12:C566187|OMIM2016_04_17:113800|OMIM2016_04_17:139350 C0264886 Conduction disorder of the heart CARDIAC CONDUCTION DEFECT | CARDIAC CONDUCTION SYSTEM DISEASE | CARDIAC DYSRHYTHMIAS | CONDUCTION DISORDER | CONDUCTION DISORDERS | Cardiac Conduction Defect | Cardiac Conduction Disorder | Cardiac conduction defects | Cardiac conduction disorder | Cardiac conduction disorders | Conduction Defects | Conduction defect | Conduction defects | Conduction disorder | Conduction disorder NOS | Conduction disorder of the heart | Conduction disorder of the heart (disorder) | Conduction disorder of the heart, NOS | Conduction disorder, unspecified | Conduction disorders | Conduction disorders NOS | Conduction disorders NOS (disorder) | Conduction disorders of heart | Conduction disorders unsp. | Conduction disorders unspecified | Conduction disorders unspecified (disorder) | Defect conduction (NOS) | Disorder of Cardiac Conduction | Disorder of heart conduction | Heart Conduction Disorder | cardiac conduction defects | cardiac conduction disorder | cardiac conduction system | cardiac conduction system (diagnosis) | cardiac rhythm disorder | conduction defect | conduction defects | conduction disorder | conduction disorder (diagnosis) | conduction disorders | conduction; defect | conductions defect | defect; conduction NCI2016_02D:A disorder affecting the conduction system that sends electrical signals in the myocardium. | NCI2016_CTCAE_1602D:A disorder characterized by pathological irregularities in the cardiac conduction system. | SCTSPA_2016_04_30:Anomal铆a del ritmo card铆aco, incluidas las anomal铆as de la frecuencia, la regularidad y/o la secuencia de activaci贸n | SNOMEDCT_US_2016_09_01:Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities | SNOMEDCT_US_2016_09_01:Any abnormal alteration of atrioventricular conduction. HPO2016_07_04:HP:0011675|ICD10CM_2017:I45.9|ICD9CM_2014:426|ICD9CM_2014:426.9|MSH2017_2016_08_12:C562490|OMIM2016_04_17:115080|OMIM2016_04_17:MTHU006726|OMIM2016_04_17:MTHU025607|SNOMEDCT_US_2016_09_01:155354000|SNOMEDCT_US_2016_09_01:155362008|SNOMEDCT_US_2016_09_01:195038000|SNOMEDCT_US_2016_09_01:195066008|SNOMEDCT_US_2016_09_01:195068009|SNOMEDCT_US_2016_09_01:266302004|SNOMEDCT_US_2016_09_01:44808001 C1856911 Ivory epiphyses Epiphyseal sclerosis | Increased bone density in end part of bone | Ivory epiphyses HPO2016_07_04:Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:sdoelken] HPO2016_07_04:HP:0010583|OMIM2016_04_17:MTHU013094 C1849314 Absence of radius and ulna Absence of radius and ulna | absence of radius and ulna HPO2016_07_04:HP:0003974|OMIM2016_04_17:MTHU009570 C1306574 Malignant rhabdomyosarcoma botryoid Botryoid rhabdomyosarcoma | Botryoid rhabdomyosarcoma (diagnosis) | Botryoid rhabdomyosarcoma (disorder) | malignant rhabdomyosarcoma botryoid SNOMEDCT_US_2016_09_01:404052009 C0406613 Site-specific disorder of skin Site-specific disorder of skin | Site-specific disorder of skin (disorder) SNOMEDCT_US_2016_09_01:238907001 C0413244 Azo-dye-induced angio-edema-urticaria Azo-dye-induced angio-edema-urticaria | Azo-dye-induced angio-oedema-urticaria | Azo-dye-induced angioedema-urticaria | Azo-dye-induced angioedema-urticaria (disorder) SNOMEDCT_US_2016_09_01:241963005 C0149939 Obstructive nephropathy NEPHROPATHY OBSTRUCTIVE | NEPHROPATHY, OBSTRUCTIVE | OBSTRUCTIVE NEPHROPATHY | Obstructive Nephropathy | Obstructive nephropathy | Obstructive nephropathy (disorder) | Obstructive nephropathy, NOS | nephropathy; obstructive | obstructive nephropathy | obstructive; nephropathy NCI2016_02D:Renal damage and impaired renal function secondary to urinary tract obstruction. | NCI2016_CDISC_1602D:Renal damage secondary to crystal deposition in the tubular lumen or blockage of urinary outflow in the bladder or urethra. Lesion is characterized by interstitial granulomatous inflammation often with epithelioid cells and multinucleated giant cells, crystal deposition or evidence of blockage of the ureters (e.g. proteinaceous plug in male mice). (INHAND) | NCI2016_NICHD_1602D:Nephropathy that is caused by an impediment to flow in the urinary tract. SNOMEDCT_US_2016_09_01:86249007 C0080233 Tooth loss Absence of tooth - acquired | Absence of tooth - acquired (disorder) | Acquired absence of teeth | Acquired absence of teeth (disorder) | Acquired absence of teeth NOS | Acquired absence of teeth NOS (disorder) | Acquired absence of teeth, NOS | Acquired absence of teeth, unspecified | Acquired edentia | DENTAL LOSS | Loss of teeth | Loss of teeth - acquired | Loss of teeth, NOS | Loss, Tooth | Missing teeth | Missing tooth - acquired | Shedding of tooth | TOOTH LOSS | Teeth missing | Tooth Loss | Tooth Loss [Disease/Finding] | Tooth loss | Tooth loss (finding) | Tooth loss, NOS | Tooth lost | absence; teeth, acquired | acquired absence of teeth | acquired absence of teeth (diagnosis) | loss dental | loss of teeth | loss teeth | loss tooth | lost tooth | missing teeth | teeth loss | teeth; absence, acquired | tooth loss | tooth loss (symptom) | tooth shedding CSP2006:failure to retain teeth as a result of disease or injury. | MSH2017_2016_08_12:The failure to retain teeth as a result of disease or injury. ICD9CM_2014:525.10|MSH2017_2016_08_12:D016388|OMIM2016_04_17:MTHU002032|OMIM2016_04_17:MTHU007082|OMIM2016_04_17:MTHU017783|SNOMEDCT_US_2016_09_01:155651001|SNOMEDCT_US_2016_09_01:196442002|SNOMEDCT_US_2016_09_01:25540007|SNOMEDCT_US_2016_09_01:37320007 C1839840 Male pseudohermaphroditism: deficiency of testicular 17,20-desmolase 46,XY SEX REVERSAL 8 | MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE | MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE | Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase | SRXY8 | TDD MSH2017_2016_08_12:C564109|OMIM2016_04_17:600450|OMIM2016_04_17:614279 C3150990 Leukoencephalopathy with dystonia and motor neuropathy LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY | STEROL CARRIER PROTEIN 2 DEFICIENCY OMIM2016_04_17:184755|OMIM2016_04_17:613724 C0023787 Lipodystrophy CUTANEOUS LIPODYSTROPHY | Dystrophy of fatty tissue | Dystrophy, fatty tissue | LIPODYSTROPHY | Lipodystrophies | Lipodystrophy | Lipodystrophy (disorder) | Lipodystrophy NOS | Lipodystrophy NOS (disorder) | Lipodystrophy [Disease/Finding] | Lipodystrophy, NOS | lipoatrophy | lipodystrophy | lipodystrophy (diagnosis) CSP2006:collection of rare conditions resulting from defective fat metabolism and characterized by atrophy of the subcutaneous fat; includes total, congenital or acquired, partial, abdominal infantile, and localized lipodystrophy. | HPO2016_07_04:Degenerative changes of the fat tissue. [HPO:curators] | MSH2017_2016_08_12:A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy. | NCI2016_02D:A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body. HPO2016_07_04:HP:0009125|ICD10CM_2017:E88.1|ICD9CM_2014:272.6|MSH2017_2016_08_12:D008060|OMIM2016_04_17:MTHU037286|SNOMEDCT_US_2016_09_01:190789006|SNOMEDCT_US_2016_09_01:190790002|SNOMEDCT_US_2016_09_01:71325002 C0002170 Alopecia (Alopecia unspecified) or (baldness) or (hair loss) | (Alopecia unspecified) or (baldness) or (hair loss) (disorder) | (Alopecia) or (thinning of hair) | (Alopecia) or (thinning of hair) (disorder) | ALOPECIA | Alopecia | Alopecia (disorder) | Alopecia Areata | Alopecia NOS | Alopecia NOS (disorder) | Alopecia [Disease/Finding] | Alopecia unspecified | Alopecia unspecified (disorder) | Alopecia, NOS | Alopecia, unspecified | Alopecias | BALDNESS | Bald | Baldness | Falling hair | HAIR LOSS | HAIR THINNING | Hair Loss | Hair Losses | Hair absent | Hair loss | Hair loss disorder | Hair thinning | Loss (of);hair | Loss Of Hair | Loss of hair | Loss of hair (finding) | Loss, Hair | Losses, Hair | Thinning hair | Thinning of hair | alopecia | alopecia (diagnosis) | alopecia (physical finding) | alopecia disorders | alopecias | bald | baldness | calvities | falling hair | falling hairs | falls hair | hair falling | hair loss | hair thinning | hair thinning (physical finding) | hair; loss | loss of hair | loss; hair | thinning hair CSP2006:baldness; absence of hair from skin areas where it is normally present. | HPO2016_07_04:Loss of hair from the head or body. [HPO:probinson] | MEDLINEPLUS_20151021:You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition.
Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration.
| MSH2017_2016_08_12:Absence of hair from areas where it is normally present. | NCI2016_02D:Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions. | NCI2016_CTCAE_1602D:A disorder characterized by a decrease in density of hair compared to normal for a given individual at a given age and body location. | NCI2016_NCI-GLOSS_1602D:The lack or loss of hair from areas of the body where hair is usually found. Alopecia can be a side effect of some cancer treatments. | NCI2016_NICHD_1602D:Hair loss usually from the scalp. | PSY2004:Baldness or the loss of hair. HPO2016_07_04:HP:0001596|HPO2016_07_04:HP:0002293|ICD10CM_2017:L65.9|ICD9CM_2014:704.0|ICD9CM_2014:704.00|MSH2017_2016_08_12:D000505|OMIM2016_04_17:MTHU036685|OMIM2016_04_17:MTHU036686|OMIM2016_04_17:MTHU042127|SNOMEDCT_US_2016_09_01:156408004|SNOMEDCT_US_2016_09_01:201129005|SNOMEDCT_US_2016_09_01:201130000|SNOMEDCT_US_2016_09_01:201157003|SNOMEDCT_US_2016_09_01:267810004|SNOMEDCT_US_2016_09_01:270504008|SNOMEDCT_US_2016_09_01:278040002|SNOMEDCT_US_2016_09_01:56317004 C0268596 Multiple acyl coenzyme a dehydrogenase deficiency ACAD | Aciduria, Ethylmalonic-Adipic | Acidurias, Ethylmalonic-Adipic | EMA | ETHYLMALONIC-ADIPICACIDURIA | Electron Transfer Flavoprotein Deficiency | Ethylmalonic Adipic Aciduria | Ethylmalonic Adipicaciduria | Ethylmalonic-Adipic Aciduria | Ethylmalonic-Adipic Acidurias | Ethylmalonic-Adipicaciduria | Ethylmalonic-adipicaciduria | GA II | GLUTARIC ACIDEMIA II | GLUTARIC ACIDURIA II | Glutaric Acidemia Type 2 | Glutaric Acidemia Type II | Glutaric Acidemia, Type 2 | Glutaric Aciduria II | Glutaric Aciduria Type 2 | Glutaric Aciduria Type II | Glutaric Aciduria, Type 2 | Glutaric acidaemia, type 2 | Glutaric acidemia type 2 | Glutaric acidemia, type 2 | Glutaric aciduria type II | Glutaric aciduria, type 2 | Glutaric aciduria, type 2 (disorder) | MAD - Multiple acyl-CoA dehydrogenase deficiency | MADD | MADD (Multiple Acyl CoA Dehydrogenase Deficiency) | MADD (Multiple Acyl-CoA Dehydrogenase Deficiency) | MADDs (Multiple Acyl-CoA Dehydrogenase Deficiency) | MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY | Multiple Acyl CoA Dehydrogenase Deficiency | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | Multiple Acyl Coenzyme A Dehydrogenase Deficiency [Disease/Finding] | Multiple Acyl-CoA Dehydrogenase Deficiency | Multiple FAD Dehydrogenase Deficiency | Multiple acyl-CoA dehydrogenase deficiencies | ema | glutaric acidemia type 2 | glutaric aciduria type II | glutaric aciduria type II (diagnosis) MSH2017_2016_08_12:An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1). | NCI2016_02D:A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, and ETFDH genes. It is characterized by defects of the electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase. Clinical presentations include congenital abnormalities, hepatomegaly, metabolic acidosis, and hypotonia. | NCI2016_02D:A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of the enzyme electron transfer flavoprotein or the enzyme electron transfer flavoprotein dehydrogenase. It results in metabolic acidosis, hypoglycemia, and behavioral changes. Additional abnormalities include brain malformations, facial malformations, dilated cardiomyopathy, and hepatomegaly. ICD10CM_2017:E71.313|MSH2017_2016_08_12:D054069|OMIM2016_04_17:231680|SNOMEDCT_US_2016_09_01:22886006 C1264041 Von willebrand disease, type 3 Hereditary von Willebrand disease type 3 | Type 3 VWD | Type 3 Von Willebrand's Disease | VON WILLEBRAND DISEASE, TYPE 3 | VON WILLEBRAND DISEASE, TYPE III | VWD, TYPE 3 | VWD3 | Von Willebrand Disease, Severe Form | von Willebrand Disease, Type 3 | von Willebrand Disease, Type 3 [Disease/Finding] | von Willebrand disease type 3 | von Willebrand disease type 3 (disorder) | von Willebrand's disease type 3 | von Willebrand's disease type 3 (diagnosis) MSH2017_2016_08_12:A subtype of von Willebrand disease that results from a total or near total deficiency of VON WILLEBRAND FACTOR. | NCI2016_02D:The most severe form of von Willebrand disease, inherited in an autosomal recessive pattern. It is characterized by marked deficiency or absence of von Willebrand factor in the plasma and platelets, and low plasma levels of factor VIII. It may cause severe bleeding. MSH2017_2016_08_12:D056729|OMIM2016_04_17:277480|OMIM2016_04_17:613160|SNOMEDCT_US_2016_09_01:128108002 C2931785 Juvenile dermatomyositis Juvenile dermatomyositis | Juvenile dermatomyositis (disorder) | Juvenile myositis | dermatomyositis; juvenile | juvenile; dermatomyositis MSH2017_2016_08_12:C000598745|SNOMEDCT_US_2016_09_01:1212005|SNOMEDCT_US_2016_09_01:201446001 C0010068 Coronary heart disease CHD (coronary heart disease) | CHD - Coronary heart disease | CORONARY DISEASE | Coronary (artery) disease | Coronary Disease | Coronary Disease [Disease/Finding] | Coronary Diseases | Coronary Disorders | Coronary Heart Disease | Coronary Heart Diseases | Coronary disease | Coronary heart disease | Disease, Coronary | Disease, Coronary Heart | Diseases, Coronary | Diseases, Coronary Heart | Heart Disease, Coronary | Heart Diseases, Coronary | cad | coronary disease | coronary diseases | coronary disorder | coronary heart disease | coronary heart diseases | heart; disease, coronary CSP2006:imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. | MSH2017_2016_08_12:An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels. ICD10CM_2017:I25.1|MSH2017_2016_08_12:D003327|SNOMEDCT_US_2016_09_01:41702007|SNOMEDCT_US_2016_09_01:53741008 C1844702 Vertical clivus Vertical clivus HPO2016_07_04:An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum). [HPO:curators] HPO2016_07_04:HP:0010559|OMIM2016_04_17:MTHU007860 C1859709 Kuskokwim disease ARTHROGRYPOSIS-LIKE DISORDER | Arthrogryposis-like disorder | KUSKOKWIM DISEASE | Kuskokwim disease MSH2017_2016_08_12:C538124|OMIM2016_04_17:259450 C3809299 Cone-rod dystrophy 18 CONE-ROD DYSTROPHY 18 | CORD18 OMIM2016_04_17:612994|OMIM2016_04_17:615374 C0029182 Orbit (eye disorders) DISORDERS OF THE ORBIT | Disease of orbit | Disease, Orbital | Diseases, Orbital | Disorder of orbit | Disorder of orbit (disorder) | Disorder of orbit, NOS | Disorder of orbit, unspecified | Disorders of orbit | Disorders of the orbit | Orbit disorder NOS | Orbit disorder NOS (disorder) | Orbit disorders | Orbital Disease | Orbital Diseases | Orbital Diseases [Disease/Finding] | Orbital disorder NOS | Unspecified disorder of orbit | disease (or disorder); orbit | disease orbital | disorder of orbit | disorder of orbit (diagnosis) | disorders of orbit | disorders of orbit (diagnosis) | orbit (eye disorders) | orbital disorder MSH2017_2016_08_12:Diseases of the bony orbit and contents except the eyeball. ICD10CM_2017:H05|ICD10CM_2017:H05.9|ICD9CM_2014:376|ICD9CM_2014:376.9|MSH2017_2016_08_12:D009916|SNOMEDCT_US_2016_09_01:11270005|SNOMEDCT_US_2016_09_01:155200004|SNOMEDCT_US_2016_09_01:194036005|SNOMEDCT_US_2016_09_01:267746003 C0426970 Spastic quadriplegia Quadriplegia, Spastic | Quadriplegias, Spastic | Spastic Quadriplegia | Spastic Quadriplegias | Spastic Tetraplegia | Spastic Tetraplegias | Spastic quadraplegia | Spastic quadriplegia | Spastic quadriplegia (disorder) | Spastic tetraplegia | Spastic tetraplegia (disorder) | Spastic tetraplegia syndrome | Tetraplegia, Spastic | Tetraplegias, Spastic | quadriplegia; spastic | spastic quadraplegia | spastic quadriplegia | spastic tetraplegia | spastic; quadriplegia | spastic; tetraplegia | tetraplegia; spastic HPO2016_07_04:Spastic paralysis affecting all four limbs. [HPO:probinson] | NCI2016_02D:A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities. | NCI2016_NICHD_1602D:A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities. HPO2016_07_04:HP:0002510|MSH2017_2016_08_12:D011782|OMIM2016_04_17:MTHU001237|OMIM2016_04_17:MTHU010663|SNOMEDCT_US_2016_09_01:192965001|SNOMEDCT_US_2016_09_01:249852005 C3150099 Antley-bixler syndrome with genital anomalies and disordered steroidogenesis ABS1 | ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS OMIM2016_04_17:124015|OMIM2016_04_17:201750 C1858664 Hemochromatosis, type 3 HEMOCHROMATOSIS DUE TO DEFECT IN TRANSFERRIN RECEPTOR 2 | HEMOCHROMATOSIS, TYPE 3 | HFE3 | Hemochromatosis due to defect in transferrin receptor 2 | Hemochromatosis, type 3 MSH2017_2016_08_12:C537248|OMIM2016_04_17:604250|OMIM2016_04_17:604720 C0035597 Pox rickettsial Kew Garden fever | Kew Garden; fever | Kew Garden; spotted fever | Kew Gardens spotted fever | RICKETTSIALPOX | Rickettsia akari infection | Rickettsia; akari, smallpox | Rickettsia; smallpox | Rickettsial pox | Rickettsialpox | Rickettsialpox (disorder) | Rickettsialpox due to Rickettsia akari | Vesicular rickettsiosis | fever; Kew Garden | pox rickettsial | rickettsial pox | rickettsialpox | rickettsialpox (diagnosis) | rickettsiosis; vesicular | smallpox; due to Rickettsia akari | spotted fever; Kew Garden | vesicular; rickettsiosis ICD10CM_2017:A79.1|ICD9CM_2014:083.2|MSH2017_2016_08_12:D012288|SNOMEDCT_US_2016_09_01:75096007 C0795998 Jackson-weiss syndrome Acrocephalosyndactyly Jackson Weiss type | CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES | Craniosynostosis, midfacial hypoplasia, and foot abnormalities | Enlarged great toes and craniofacial abnormalities | JACKSON-WEISS SYNDROME | JWS | Jackson-Weiss Syndrome | Jackson-Weiss syndrome | Jackson-Weiss syndrome (JWS) | Jackson-Weiss syndrome (disorder) | jackson weiss syndrome | jackson-weiss syndrome JABL99:Craniosynostosis, midface hypoplasia, and foot abnormalities with variable degree of severity are the main characteristics of this disorder which was originally observed in a large Amish kindred. Borderline intelligence and mild mental retardation are noted in some cases. | NCI2016_02D:A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and foot abnormalities. The craniosynostosis results in a malformed skull, widely spaced eyes, and a bulging forehead. The foot abnormalities consist of short and wide first toes, which bend away from the other toes. In addition, syndactyly in some toes may be present. The hands are almost always normal. MSH2017_2016_08_12:C537559|OMIM2016_04_17:123150|OMIM2016_04_17:136350|OMIM2016_04_17:176943|SNOMEDCT_US_2016_09_01:709105005 C0011436 Dentinogenesis imperfecta Dentinogenesis Imperfecta | Dentinogenesis Imperfecta [Disease/Finding] | Dentinogenesis imperfecta | Dentinogenesis imperfecta (disorder) | Dentinogenesis imperfecta (disorder) [Ambiguous] | Dentinogenesis imperfecta [dup] | Dentinogenesis imperfecta [dup] (disorder) | Imperfecta, Dentinogenesis | dentinogenesis imperfecta | dentinogenesis imperfecta (diagnosis) HPO2016_07_04:Developmental dysplasia of dentin. [HPO:ibailleulforestier] | MSH2017_2016_08_12:An autosomal dominant disorder of tooth development characterized by opalescent dentin resulting in discoloration of the teeth. The dentin develops poorly with low mineral content while the pulp canal is obliterated. | NCI2016_02D:A congenital tooth development disorder caused by mutations in the DSPP gene. The teeth are weak, discolored, and translucent. HPO2016_07_04:HP:0000703|ICD10CM_2017:K00.5|MSH2017_2016_08_12:D003811|OMIM2016_04_17:MTHU036675|SNOMEDCT_US_2016_09_01:196286005|SNOMEDCT_US_2016_09_01:367461002|SNOMEDCT_US_2016_09_01:45742009 C0855191 Stage iv bladder squamous cell carcinoma Bladder squamous cell carcinoma stage IV | Squamous cell bladder carcinoma stage IV | Squamous cell carcinoma of the bladder stage IV | Stage IV Bladder Squamous Cell Carcinoma | Stage IV Bladder Squamous Cell Carcinoma AJCC v7 NCI2016_02D:Stage IV includes: (T4b, N0, M0); (Any T, N1-3, M0); (Any T, Any N, M1). T4b: Tumor invades pelvic wall, abdominal wall. N0: No regional lymph node metastasis. N1: Single regional lymph node metastasis in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node). N2: Multiple regional lymph node metastases in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node metastasis). N3: Metastasis to the common iliac lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.) C2931842 Diaphyseal dysplasia 1, progressive DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE | DPD1 | Diaphyseal dysplasia 1, progressive MSH2017_2016_08_12:C538411|OMIM2016_04_17:131300 C1390474 Increased susceptibility to fractures Abnormal susceptibility to fractures | Bone fragility | Increased bone fragility | Increased susceptibility to fractures | Increased tendency to fractures | bone; fragility | fragility; bone HPO2016_07_04:An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. [HPO:sdoelken] HPO2016_07_04:HP:0002659|OMIM2016_04_17:MTHU004628|OMIM2016_04_17:MTHU018904|OMIM2016_04_17:MTHU021386 C0339427 Partial central choroid dystrophy Central dystrophy of choroid, partial | Choroidal dystrophy, central areolar | Choroidal dystrophy, circinate | Circinate choroidal dystrophy | Partial central choroid dystr. | Partial central choroid dystrophy | Partial central choroid dystrophy (disorder) | Partial central dystrophy of choroid | Partial central dystrophy of choroid (disorder) | circinate choroidal dystrophy | circinate choroidal dystrophy (diagnosis) | partial central choroidal dystrophy | partial central choroidal dystrophy (diagnosis) | partial central hereditary choroidal dystrophy ICD9CM_2014:363.53|SNOMEDCT_US_2016_09_01:193468002|SNOMEDCT_US_2016_09_01:80526002 C0279738 Acinic cell tumor, salivary gland Acinic Cell Carcinoma of Salivary Gland | Acinic Cell Carcinoma of the Salivary Gland | Acinic Cell Neoplasm of Salivary Gland | Acinic Cell Neoplasm of the Salivary Gland | Acinic Cell Tumor of Salivary Gland | Acinic Cell Tumor of the Salivary Gland | Acinic cell carcinoma of salivary gland | Salivary Gland Acinic Cell Carcinoma | Salivary Gland Acinic Cell Neoplasm | Salivary Gland Acinic Cell Tumor | acinic cell tumor, salivary gland | salivary gland acinic cell tumor NCI2016_02D:A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis. C1850970 Frontal cutaneous lipoma Frontal cutaneous lipoma HPO2016_07_04:Presence of a cutaneous lipoma on the forehead. [HPO:probinson] HPO2016_07_04:HP:0007541|OMIM2016_04_17:MTHU018095 C0034561 Radiodermatitis DERMATITIS, RADIATION | Dermatitides, Radiation-Induced | Dermatitis radiation | Dermatitis radiation NOS | Dermatitis, Radiation Induced | Dermatitis, Radiation-Induced | RADIODERMATITIS | Radiation Dermatitis | Radiation Induced Dermatitis | Radiation dermatitis | Radiation dermatitis (disorder) | Radiation dermatitis, NOS | Radiation-Induced Dermatitides | Radiation-Induced Dermatitis | Radiation-induced dermatosis | Radiation-induced dermatosis (disorder) | Radiodermatitides | Radiodermatitis | Radiodermatitis [Disease/Finding] | Radiodermatitis, NOS | Radiodermatitis, unspecified | dermatitis; radiation | dermatitis; radioactive substances | radiation dermatitis | radiation dermatitis (diagnosis) | radiation; dermatitis | radioactive substance; dermatitis | radiodermatitis MSH2017_2016_08_12:A cutaneous inflammatory reaction occurring as a result of exposure to ionizing radiation. | NCI2016_02D:A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation. | NCI2016_CTCAE_1602D:A finding of cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation. | NCI2016_FDA_1602D:A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation. | NCI2016_NCI-GLOSS_1602D:A skin condition that is a common side effect of radiation therapy. The affected skin becomes painful, red, itchy, and blistered. | NCI2016_NICHD_1602D:A cutaneous inflammatory reaction occurring as a result of exposure to ionizing radiation. ICD10CM_2017:L58|ICD10CM_2017:L58.9|MSH2017_2016_08_12:D011855|SNOMEDCT_US_2016_09_01:403731002|SNOMEDCT_US_2016_09_01:49084001 C1136043 Acoustic schwannoma, bilateral ACOUSTIC SCHWANNOMAS, BILATERAL | Acoustic Schwannoma, Bilateral | Acoustic Schwannomas, Bilateral | Bilateral Acoustic Schwannoma | Bilateral Acoustic Schwannomas | Schwannoma, Acoustic, Bilateral | Schwannoma, Bilateral Acoustic | Schwannomas, Bilateral Acoustic MSH2017_2016_08_12:D016518|OMIM2016_04_17:101000 C1332884 Central nervous system leukaemia CNS Leukemia | CNS leukemia | CNS leukemia (diagnosis) | Central Nervous System Leukemia | Central nervous system leukaemia | Central nervous system leukemia | Leukemia of CNS | Leukemia of Central Nervous System | Leukemia of the CNS | Leukemia of the Central Nervous System | leukemia lymphocytic acute (all) in relapse cns leukemia NCI2016_02D:Leukemia infiltrating the central nervous system structures. C1854520 Sebastian syndrome Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia | Alport syndrome with macrothrombocytopenia | Autosomal Dominant Myh9 Spectrum Disorders | Dohle leukocyte inclusions with giant platelets | Epstein syndrome | Fechtner syndrome | Fechtner's syndrome | MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS | MYH9 Gene-Related Autosomal Macrothrombocytopenias | MYH9 related disease | MYH9-Related Disease | MYH9-Related Disorders | MYH9-related syndromic thrombocytopenia | MYH9RD | Macrothrombocytopathy, Nephritis, and Deafness | Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions | Macrothrombocytopenia with leukocyte inclusions | May-Hegglin anomaly | Myh9-Related Disorder | Myh9-Related Macrothrombocytopenias | Myosin heavy chain 9 non muscle related disease | Myosin heavy chain 9 non muscle related disease (disorder) | SBS | SEBASTIAN PLATELET SYNDROME | SEBASTIAN SYNDROME | Sebastian platelet syndrome | Sebastian syndrome MSH2017_2016_08_12:C535507|OMIM2016_04_17:160775|OMIM2016_04_17:605249|SNOMEDCT_US_2016_09_01:712922002 C0036203 Cutaneous sarcoidosis Cutaneous Sarcoidosis | Cutaneous sarcoid | Cutaneous sarcoid (disorder) | Cutaneous sarcoidosis | Cutaneous sarcoidosis (disorder) | SARCOIDOSIS CUTANEOUS | SARCOIDOSIS SKIN | Sarcoidosis cutaneous | Sarcoidosis of skin | Sarcoidosis, cutaneous | Skin sarcoidosis | Skin sarcoidosis lesion | cutaneous sarcoid | cutaneous sarcoidosis | lesions sarcoidosis skin | sarcoidosis cutaneous | sarcoidosis of skin | sarcoidosis skin | sarcoidosis with skin involvement | sarcoidosis with skin involvement (diagnosis) | sarcoidosis; skin | skin sarcoidosis | skin; sarcoidosis NCI2016_02D:Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation. ICD10CM_2017:D86.3|SNOMEDCT_US_2016_09_01:187234008|SNOMEDCT_US_2016_09_01:55941000 C1854466 Temtamy preaxial brachydactyly syndrome PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE | Preaxial brachydactyly syndrome, Temtamy type | TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME | TPBS | Temtamy preaxial brachydactyly syndrome MSH2017_2016_08_12:C536958|OMIM2016_04_17:605282|OMIM2016_04_17:608183 C0853945 Oral mucosal blistering Blebs of oral mucosa | Blisters of mouth | Bullae of oral mucosa | Oral mucosa blister | Oral mucosa blistering | Oral mucosa blisters | Oral mucosal blistering | Oral mucosal blisters HPO2016_07_04:Blisters arising in the mouth. [HPO:probinson] HPO2016_07_04:HP:0200097|OMIM2016_04_17:MTHU013130 C0002965 Angina, unstable (Angina: [crescendo] or [unstable] or [at rest]) or (preinfarction syndrome) or (impending infarction) | (Angina: [crescendo] or [unstable] or [at rest]) or (preinfarction syndrome) or (impending infarction) (disorder) | ANGINA UNSTABLE | Angina Pectori, Unstable | Angina Pectoris, Unstable | Angina at Rest | Angina at rest | Angina at rest (disorder) | Angina pectoris unstable | Angina pectoris, crescendo | Angina pectoris, unstable | Angina unstable | Angina worsened | Angina, Preinfarction | Angina, Unstable | Angina, Unstable [Disease/Finding] | Angina;unstable | Anginal chest pain at rest | Anginas, Preinfarction | Anginas, Unstable | CRESCENDO ANGINA | Crescendo angina | Impending infarction | Impending infarction (diagnosis) | Impending infarction (disorder) | Infarction;impending | Intermediate coronary syndrome | Intermediate ischemic heart syndrome | Preinfarction Angina | Preinfarction Anginas | Preinfarction angina | Preinfarction angina (disorder) | UNSTABLE ANGINA | UNSTABLE ANGINA PECTORIS | Unstable Angina | Unstable Angina Pectori | Unstable Angina Pectoris | Unstable Anginas | Unstable angina | Unstable angina (disorder) | Worsening angina | Worsening angina (disorder) | angina at rest | angina pectoris; at rest | angina pectoris; crescendo | angina pectoris; unstable | angina unstable | coronary; syndrome | crescendo angina | crescendo angina pectoris | crescendo angina pectoris (diagnosis) | crescendo; angina | impending infarction | intermediate coronary syndrome | intermediate coronary; syndrome | myocardial ischemia impending infarction | pre-infarction syndrome | preinfarction angina | preinfarctional; angina | rest angina | rest; angina | syndrome; coronary | syndrome; intermediate coronary | unstable angina | unstable angina pectoris | unstable angina pectoris (diagnosis) | unstable; angina MSH2017_2016_08_12:Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION. | NCI2016_02D:Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest. | NCI2016_CDISC_1602D:Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest. ICD10CM_2017:I20.0|ICD9CM_2014:411.1|MSH2017_2016_08_12:D000789|SNOMEDCT_US_2016_09_01:155308009|SNOMEDCT_US_2016_09_01:155313008|SNOMEDCT_US_2016_09_01:155314002|SNOMEDCT_US_2016_09_01:194814006|SNOMEDCT_US_2016_09_01:194816008|SNOMEDCT_US_2016_09_01:194817004|SNOMEDCT_US_2016_09_01:194819001|SNOMEDCT_US_2016_09_01:233818002|SNOMEDCT_US_2016_09_01:233820004|SNOMEDCT_US_2016_09_01:25106000|SNOMEDCT_US_2016_09_01:4557003|SNOMEDCT_US_2016_09_01:64333001 C0271001 Siderosis of eye Ocular siderosis | Siderosis of eye | Siderosis of eye (disorder) | Siderosis of globe | eye; siderosis | ocular siderosis | ocular siderosis (diagnosis) | siderosis; eye ICD10CM_2017:H44.32|ICD9CM_2014:360.23|SNOMEDCT_US_2016_09_01:25277000 C2675459 Adenylate kinase deficiency, hemolytic anemia due to ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO | Adenylate Kinase Deficiency, Hemolytic Anemia Due To MSH2017_2016_08_12:C567228|OMIM2016_04_17:103000|OMIM2016_04_17:612631 C1565106 Headache disorders, primary Disorder, Primary Headache | Disorders, Primary Headache | Headache Disorder, Primary | Headache Disorders, Primary | Headache Disorders, Primary [Disease/Finding] | Primary Headache Disorder | Primary Headache Disorders MSH2017_2016_08_12:Conditions in which the primary symptom is HEADACHE and the headache cannot be attributed to any known causes. MSH2017_2016_08_12:D051270 C1335042 Non-neoplastic cutaneous disorder Non-Neoplastic Cutaneous Disorder | Non-Neoplastic Skin Disorder C0155380 Dissociated nystagmus Dissociated Nystagmus | Dissociated nystagmus | Dissociated nystagmus (disorder) | Nystagmus, Dissociated | dissociated nystagmus | dissociated nystagmus (physical finding) ICD10CM_2017:H55.04|ICD9CM_2014:379.55|MSH2017_2016_08_12:D009759|SNOMEDCT_US_2016_09_01:9520006 C4023161 Abnormal bone ossification Abnormal bone ossification HPO2016_07_04:Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. [HPO:probinson] HPO2016_07_04:HP:0011849 C0025007 Measles MEASLE | MEASLES | Measles | Measles (disorder) | Measles NOS | Measles [Disease/Finding] | Measles disease | Morbilli | RUBEOLA | RUBEOLLA | Rubeola | Rubeola Infection | Rubeola virus infection | measle | measles | measles (diagnosis) | morbilli | rubeola CSP2006:childhood viral disease manifested as acute febrile illness associated with cough, coryza, conjunctivitis, spots on the buccal mucosa, and rash starting on the head and neck and spreading to the rest of the body. | MEDLINEPLUS_20151021:Measles is an infectious disease caused by a virus. It spreads easily from person to person. It causes a blotchy red rash. The rash often starts on the head and moves down the body. Other symptoms include
Sometimes measles can lead to serious problems. There is no treatment for measles, but the measles-mumps-rubella (MMR) vaccine can prevent it.
"German measles", also known as rubella, is a completely different illness.
Centers for Disease Control and Prevention
| MSH2017_2016_08_12:A highly contagious infectious disease caused by MORBILLIVIRUS, common among children but also seen in the nonimmune of any age, in which the virus enters the respiratory tract via droplet nuclei and multiplies in the epithelial cells, spreading throughout the MONONUCLEAR PHAGOCYTE SYSTEM. | MSHFRE2016:Maladie infectieuse tr猫s contagieuse due au virus de la ROUGEOLE (MORBILLIVIRUS), retrouv茅e chez les enfants mais aussi chez les adultes non immunis茅s. Le virus entre dans l'organisme par la voie respiratoire par la projection de gouttelettes de salive. Le virus se multiplie dans les cellules 茅pith茅liales, puis gagne le syst猫me r茅ticulo-endoth茅lial. (Dorland, 27th ed) | NCI2016_02D:A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR). ICD10CM_2017:B05|ICD10CM_2017:B05.9|ICD9CM_2014:055|MSH2017_2016_08_12:D008457|SNOMEDCT_US_2016_09_01:14189004|SNOMEDCT_US_2016_09_01:154338006 C0432255 Geroderma osteodysplastica GERODERMA OSTEODYSPLASTICUM | GERODERMIA OSTEODYSPLASTICA | GO | GO - Geroderma osteodysplastica | Geroderma Osteodysplasticum | Geroderma osteodysplastica | Geroderma osteodysplastica (disorder) | Geroderma osteodysplastica hereditaria | Gerodermia osteodysplastica | Osteodysplastic geroderma | WALT DISNEY DWARFISM | Walt Disney dwarfism MSH2017_2016_08_12:C537799|OMIM2016_04_17:231070|OMIM2016_04_17:607983|SNOMEDCT_US_2016_09_01:254116003 C3279725 Weakness of hip flexors Hip flexor weakness | Weakness of hip flexors HPO2016_07_04:Reduced ability to flex the femur, that is, to pull the knee upward. [ORCID:0000-0001-5208-3432] HPO2016_07_04:HP:0012515|OMIM2016_04_17:MTHU035000 C0178299 Skin and subcut tissue infection nos INFECTIONS OF SKIN AND SUBCUTANEOUS TISSUE | INFECTIONS OF THE SKIN AND SUBCUTANEOUS TISSUES | Infection of skin AND/OR subcutaneous tissue | Infection of skin AND/OR subcutaneous tissue (disorder) | Infection of skin and subcutaneous tissue, NOS | Infections of the skin and subcutaneous tissue | Infections of the skin and subcutaneous tissue (L00-L08) | Infective dermatological disorders | Infective dermatological disorders (disorder) | Infectns/skin+subcut tissue | Skin and subcut tissue infection NOS | Skin and subcut tissue infection NOS (disorder) | Skin and subcutaneous tissue infection | Skin and subcutaneous tissue infections | Skin/subcutaneous infectn.NOS | [X]Infections of the skin and subcutaneous tissue | [X]Infections of the skin and subcutaneous tissue (disorder) | [X]Infectns/skin+subcut tissue | infections of skin and subcutaneous tissue | infections of skin and subcutaneous tissue (diagnosis) | infections skin and subcutaneous tissue ICD10CM_2017:L00-L08|ICD9CM_2014:680-686.99|SNOMEDCT_US_2016_09_01:156293001|SNOMEDCT_US_2016_09_01:19824006|SNOMEDCT_US_2016_09_01:200760007|SNOMEDCT_US_2016_09_01:201347006|SNOMEDCT_US_2016_09_01:267790008 C0751037 Cockayne syndrome, type iii COCKAYNE SYNDROME, TYPE III | Cockayne Syndrome Type 3 | Cockayne Syndrome Type C | Cockayne Syndrome, Group C | Cockayne Syndrome, Type C | Cockayne Syndrome, Type III | Cockayne syndrome type C | Cockayne syndrome type C (diagnosis) | Group C Cockayne Syndrome | Type C Cockayne Syndrome | Type III Cockayne Syndrome MSH2017_2016_08_12:Type C is a rare form. Its genetic defect is not clear; appears to be a heterogeneous group. OMIM suggests that Type C should not be used anymore. MSH2017_2016_08_12:D003057|OMIM2016_04_17:216411 C0520878 Shortened pr interval Electrocardiogram PR shortened | Electrocardiographic short PR interval | PR INTERVAL SHORTENED | PR interval shortened | PR shortened | SHORT PR INTERVAL | Short P-R interval | Short PR Interval | Short PR Interval by ECG Finding | Short PR Interval by EKG Finding | Short PR interval | Shortened P-R interval | Shortened PR interval | Shortened PR interval (finding) | Shortened PR interval on EKG | ecg pr interval shortened | ecg pr interval shortened (procedure) | shorten pr | shortened p-r interval | shortened pr interval HPO2016_07_04:Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. [HPO:probinson] | NCI2016_02D:An electrocardiographic finding of an abnormally short PR interval. Thresholds for different age, gender, and patient populations exist. (CDISC) | NCI2016_CDISC_1602D:An electrocardiographic finding of an abnormally short PR interval. Thresholds for different age, gender, and patient populations exist. HPO2016_07_04:HP:0005165|OMIM2016_04_17:MTHU038701|SNOMEDCT_US_2016_09_01:142117002|SNOMEDCT_US_2016_09_01:49578007 C3280939 Atrioventricular septal defect 5 ATRIOVENTRICULAR SEPTAL DEFECT 5 | AVSD5 OMIM2016_04_17:601656|OMIM2016_04_17:614474 C0085109 Corneal neovascularization Angiogenesis, Corneal | CORNEAL VASCULARIZATION | Corneal Angiogenesis | Corneal Neovascularization | Corneal Neovascularization [Disease/Finding] | Corneal Neovascularizations | Corneal neovascularis. unspec. | Corneal neovascularisation | Corneal neovascularisation NOS | Corneal neovascularization | Corneal neovascularization (disorder) | Corneal neovascularization NOS | Corneal neovascularization NOS (disorder) | Corneal neovascularization, NOS | Corneal neovascularization, unspecified | Corneal vascularisation | Corneal vascularization | Neovascularization, Corneal | Neovascularizations, Corneal | New blood vessel formation in cornea | Unspecified corneal neovascularisation | Unspecified corneal neovascularization | Unspecified corneal neovascularization (disorder) | cornea; neovascularization | corneal neovascularisation | corneal neovascularization | corneal neovascularization (diagnosis) | corneal vascularization | neovascularization of cornea | neovascularization of cornea (physical finding) | neovascularization; cornea HPO2016_07_04:Ingrowth of new blood vessels into the cornea. [DDD:ncarter, pmid:22898649] | MSH2017_2016_08_12:New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION. HPO2016_07_04:HP:0011496|ICD10CM_2017:H16.4|ICD10CM_2017:H16.40|ICD9CM_2014:370.6|ICD9CM_2014:370.60|MSH2017_2016_08_12:D016510|OMIM2016_04_17:MTHU031196|OMIM2016_04_17:MTHU043724|SNOMEDCT_US_2016_09_01:19161004|SNOMEDCT_US_2016_09_01:193789007|SNOMEDCT_US_2016_09_01:193791004 C3495438 Macular degeneration, age-related, 2 ARMD2 | Armd2 | MACULAR DEGENERATION, AGE-RELATED, 2 | MACULAR DEGENERATION, SENILE | MACULOPATHY, AGE-RELATED, 2 | Macular Degeneration, Age-Related, 2 | Macular Degeneration, Senile | Maculopathy, Age-Related, 2 MSH2017_2016_08_12:C562479|OMIM2016_04_17:153800 C0232488 Abdominal colic Abdominal colic | Abdominal colic (finding) | COLIC | COLIC ABDOMINAL | Colic | Colic NOS | Colic [D] | Colic [D] (finding) | Colic [D] (situation) | Colic [Disease/Finding] | Colic abdominal | Colic;abdominal | Colicky abdominal pain | Colicky pain | Spasmodic abdominal pain | [D]Abdominal colic | [D]Abdominal colic (context-dependent category) | [D]Abdominal colic (situation) | [D]Colic | [D]Colic (context-dependent category) | [D]Colic (situation) | [D]Colic NOS | [D]Colic NOS (context-dependent category) | [D]Colic NOS (situation) | abdomen; colic | abdominal colic | colic | colic; abdomen | colicky abdominal pain | colicky pain | colics | spasmodic abdominal pain MSH2017_2016_08_12:A clinical syndrome with intermittent abdominal pain characterized by sudden onset and cessation that is commonly seen in infants. It is usually associated with obstruction of the INTESTINES; of the CYSTIC DUCT; or of the URINARY TRACT. | NCI2016_02D:Paroxysms of discomfort characterized by abrupt onset and remission. This typically occurs when a hollow organ or supporting structure is obstructed. HPO2016_07_04:HP:0011848|ICD10CM_2017:R10.83|ICD9CM_2014:789.7|MSH2017_2016_08_12:D003085|OMIM2016_04_17:MTHU037206|OMIM2016_04_17:MTHU039247|SNOMEDCT_US_2016_09_01:139306005|SNOMEDCT_US_2016_09_01:158501003|SNOMEDCT_US_2016_09_01:158502005|SNOMEDCT_US_2016_09_01:207207006|SNOMEDCT_US_2016_09_01:207208001|SNOMEDCT_US_2016_09_01:274256007|SNOMEDCT_US_2016_09_01:9991008 C4021435 Short middle phalanx of the 2nd finger Hypoplastic middle index finger phalanx | Hypoplastic/small middle phalanx of the 2nd finger | Short middle bone of index finger | Short middle phalanx of the 2nd finger HPO2016_07_04:Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. [HPO:sdoelken] HPO2016_07_04:HP:0009577 C0686582 Primary malignant neoplasm of bone marrow Malignant neoplasm of bone marrow | Malignant neoplasm of bone marrow, NOS | Primary malignant neoplasm of bone marrow | Primary malignant neoplasm of bone marrow (diagnosis) | Primary malignant neoplasm of bone marrow (disorder) | bone marrow malignant neoplasm primary SNOMEDCT_US_2016_09_01:93720005 C0343730 Perianal wart Perianal warts | Perianal warts (disorder) | perianal wart | perianal warts SNOMEDCT_US_2016_09_01:154364000|SNOMEDCT_US_2016_09_01:186689006|SNOMEDCT_US_2016_09_01:266114001 C0025037 Meckel diverticulum (Meckel's diverticulum) or (persistent omphalomesenteric duct) or (persistent vitelline duct) | (Meckel's diverticulum) or (persistent omphalomesenteric duct) or (persistent vitelline duct) (disorder) | (Persistent omphalomesenteric duct) or (persistent vitelline duct) | (Persistent omphalomesenteric duct) or (persistent vitelline duct) (disorder) | Diverticulum Meckel's | Diverticulum ilei | Diverticulum of Meckel | Diverticulum, Meckel | ILEAL DIVERTICULA | Ileal diverticulum | MD - Meckel's diverticulum | MECKEL DIVERTICULUM | Meckel Diverticulum | Meckel Diverticulum [Disease/Finding] | Meckel diverticulum | Meckel's Diverticulum | Meckel's diverticulum | Meckel's diverticulum (body structure) | Meckel's diverticulum (diagnosis) | Meckel's diverticulum (disorder) | Meckel's diverticulum (morphologic abnormality) | Meckel's diverticulum NOS | Meckel's diverticulum NOS (disorder) | Meckel's diverticulum unspec. | Meckel's diverticulum, unspecified | Meckel's diverticulum, unspecified (disorder) | Meckel; diverticulum | Meckels diverticulum | Persistent intestinal end of vitelline duct | Persistent omphalomesenteric duct | Persistent vitelline duct | Persistent vitelline duct (disorder) | diverticulum meckel | diverticulum meckel's | diverticulum meckels | diverticulum meckels's | diverticulum; Meckel | duct; omphalomesenteric | meckel diverticulum | meckel's diverticulum | meckels diverticulum | persistent omphalomesenteric duct | persistent omphalomesenteric duct (diagnosis) | persistent; omphalomesenteric duct | persistent; vitelline duct HPO2016_07_04:Meckel's diverticulum is a congenital diverticulum located in the distal ileum. [HPO:probinson] | MSH2017_2016_08_12:A congenital abnormality characterized by the outpouching or sac formation in the ILEUM. It is a remnant of the embryonic YOLK SAC in which the VITELLINE DUCT failed to close. | NCI2016_02D:A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction. HPO2016_07_04:HP:0002245|ICD10CM_2017:Q43.0|ICD9CM_2014:751.0|MSH2017_2016_08_12:D008467|OMIM2016_04_17:155140|OMIM2016_04_17:MTHU005288|SNOMEDCT_US_2016_09_01:127962001|SNOMEDCT_US_2016_09_01:156955000|SNOMEDCT_US_2016_09_01:204685004|SNOMEDCT_US_2016_09_01:204686003|SNOMEDCT_US_2016_09_01:204689005|SNOMEDCT_US_2016_09_01:204690001|SNOMEDCT_US_2016_09_01:253775007|SNOMEDCT_US_2016_09_01:264256006|SNOMEDCT_US_2016_09_01:37373007 C1848813 Thyrocerebral-retinal syndrome THYROCEREBRORETINAL SYNDROME | Thyrocerebral-retinal syndrome | Thyrocerebroretinal syndrome MSH2017_2016_08_12:C536908|OMIM2016_04_17:274240 C0023321 Lentigo LENTIGINES | LENTIGO | Lentigines | Lentiginoses | Lentiginosis | Lentiginosis (disorder) | Lentigo | Lentigo (disorder) | Lentigo [Disease/Finding] | Lentigo, NOS | Lentigos | lentiginosis | lentigo | lentigo (diagnosis) | lentigos MSH2017_2016_08_12:Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome). | NCI2016_02D:A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy. ICD10CM_2017:L81.4|MSH2017_2016_08_12:D007911|OMIM2016_04_17:150900|OMIM2016_04_17:MTHU048627|SNOMEDCT_US_2016_09_01:156438005|SNOMEDCT_US_2016_09_01:201286007|SNOMEDCT_US_2016_09_01:267870007|SNOMEDCT_US_2016_09_01:398744007|SNOMEDCT_US_2016_09_01:402624000|SNOMEDCT_US_2016_09_01:75534002 C1836080 Stickler syndrome, type i, nonsyndromic ocular STICKLER SYNDROME, ATYPICAL | STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR | STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR | Stickler Syndrome, Atypical | Stickler Syndrome, Type I, Nonsyndromic Ocular | Stickler Syndrome, Type I, Predominantly Ocular MSH2017_2016_08_12:C563709|OMIM2016_04_17:120140|OMIM2016_04_17:609508 C0156344 Endometriosis of ovary Endometriosis of ovary | Endometriosis of ovary (disorder) | Endometriosis of ovary (disorder) [Ambiguous] | Ovarian Endometriosis | endometriosis of ovary | endometriosis ovaries | endometriosis ovary | endometriosis; ovary | ovarian endometriosis | ovarian endometriosis (diagnosis) | ovary; endometriosis NCI2016_02D:A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions. ICD10CM_2017:N80.1|ICD9CM_2014:617.1|SNOMEDCT_US_2016_09_01:198250000|SNOMEDCT_US_2016_09_01:266589005|SNOMEDCT_US_2016_09_01:31007005 C1844020 Heterotaxy, visceral, 1, x-linked DEXTROCARDIA WITH OTHER CARDIAC MALFORMATIONS | Dextrocardia with other cardiac malformations | HETEROTAXY, VISCERAL, 1, X-LINKED | HTX1 | Heterotaxy, Visceral, 1, X-Linked | Heterotaxy, visceral, X-linked | LATERALITY, X-LINKED | Laterality, X-linked | SITUS INVERSUS, COMPLEX CARDIAC DEFECTS, AND SPLENIC DEFECTS, X-LINKED | Situs inversus, complex cardiac defects, and splenic defects, X-linked | Visceral heterotaxia MSH2017_2016_08_12:C538116|OMIM2016_04_17:300265|OMIM2016_04_17:306955 C0004096 Asthma -- Asthma | ASTHMA | ASTHMA BRONCHIAL | ASTHMA, BRONCHIAL | Airway hyperreactivity | Asthma | Asthma (disorder) | Asthma (disorder) [Ambiguous] | Asthma NOS | Asthma NOS (disorder) | Asthma [Disease/Finding] | Asthma bronchial | Asthma unspecified | Asthma unspecified (disorder) | Asthma, Bronchial | Asthma, NOS | Asthma, unspecified | Asthmas | Asthmatic | BRONCHIAL ASTHMA | Br. asthma | Bronchial Asthma | Bronchial asthma | Bronchial asthma, NOS | Bronchitic asthma | Unspecified asthma | asthma | asthma (diagnosis) | asthma disorders | asthmatic | asthmatics | br asthma | bronchial asthma | bronchitic asthma CSP2006:form of bronchial disorder associated with airway obstruction, marked by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi. | HPO2016_07_04:Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. [HPO:probinson] | MEDLINEPLUS_20151021:Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. That makes them very sensitive, and they may react strongly to things that you are allergic to or find irritating. When your airways react, they get narrower and your lungs get less air.
Symptoms of asthma include
Not all people who have asthma have these symptoms. Having these symptoms doesn't always mean that you have asthma. Your doctor will diagnose asthma based on lung function tests, your medical history, and a physical exam. You may also have allergy tests.
When your asthma symptoms become worse than usual, it's called an asthma attack. Severe asthma attacks may require emergency care, and they can be fatal.
Asthma is treated with two kinds of medicines: quick-relief medicines to stop asthma symptoms and long-term control medicines to prevent symptoms.
NIH: National Heart, Lung, and Blood Institute
| MSH2017_2016_08_12:A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL). | NCI2016_02D:A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways. | NCI2016_NCI-GLOSS_1602D:A chronic disease in which the bronchial airways in the lungs become narrowed and swollen, making it difficult to breathe. Symptoms include wheezing, coughing, tightness in the chest, shortness of breath, and rapid breathing. An attack may be brought on by pet hair, dust, smoke, pollen, mold, exercise, cold air, or stress. | NCI2016_NICHD_1602D:A chronic respiratory disease caused by obstruction of the bronchi and small airways, and characterized by wheezing and shortness of breath. HPO2016_07_04:HP:0002099|ICD10CM_2017:J45|ICD10CM_2017:J45.90|ICD10CM_2017:J45.909|ICD9CM_2014:493|ICD9CM_2014:493.9|MSH2017_2016_08_12:D001249|OMIM2016_04_17:MTHU003537|OMIM2016_04_17:MTHU005153|SNOMEDCT_US_2016_09_01:155574008|SNOMEDCT_US_2016_09_01:155579003|SNOMEDCT_US_2016_09_01:187687003|SNOMEDCT_US_2016_09_01:195967001|SNOMEDCT_US_2016_09_01:195979001|SNOMEDCT_US_2016_09_01:195983001|SNOMEDCT_US_2016_09_01:21341004|SNOMEDCT_US_2016_09_01:266365004|SNOMEDCT_US_2016_09_01:266398009|SNOMEDCT_US_2016_09_01:278517007 C0001580 Adolescent behavior Adolescent Behavior | Adolescent Behaviors | Behavior, Adolescent | Behaviors, Adolescent | adolescent behavior | adolescents behavior MSH2017_2016_08_12:Any observable response or action of an adolescent. | MSHNOR2016:Enhver observerbar reaksjon eller handling fra en ungdom. MSH2017_2016_08_12:D000294 C1858108 Microcephaly, primary autosomal recessive, 3 MCPH3 | MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE | Microcephaly, Primary Autosomal Recessive, 3 MSH2017_2016_08_12:C565746|OMIM2016_04_17:604804|OMIM2016_04_17:608201 C1833319 Deafness, autosomal recessive 5 (disorder) DEAFNESS, AUTOSOMAL RECESSIVE 5 | DEAFNESS, AUTOSOMAL RECESSIVE 5 (disorder) | DFNB5 | Deafness, Autosomal Recessive 5 | NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 5 | NSRD5 | Neurosensory Nonsyndromic Recessive Deafness 5 MSH2017_2016_08_12:C563444|OMIM2016_04_17:600792 C0041328 Renal tuberculosis KIDNEY, TUBERCULOSIS | Kidneys--Tuberculosis | RENAL TUBERCULOSIS | Renal TB | Renal Tuberculoses | Renal Tuberculosis | Renal tuberculosis | TB - Renal tuberculosis | TB of the kidney | Tuberculoses, Renal | Tuberculosis of kidney | Tuberculosis of kidney (disorder) | Tuberculosis of kidney NOS | Tuberculosis of kidney NOS (disorder) | Tuberculosis of kidney, unspecified | Tuberculosis of kidney, unspecified examination | Tuberculosis, Renal | Tuberculosis, Renal [Disease/Finding] | Tuberculosis;kidney | kidney of tuberculosis | kidney tuberculosis | kidneys tuberculosis | of kidney tuberculosis | renal tb | renal tuberculosis | tuberculosis kidney | tuberculosis of kidney | tuberculosis of kidney (diagnosis) | tuberculosis renal MSH2017_2016_08_12:Infection of the KIDNEY with species of MYCOBACTERIUM. | NCI2016_02D:Infection of the kidney due to mycobacteria.(NICHD) | NCI2016_NICHD_1602D:Infection of the kidney due to mycobacteria. ICD9CM_2014:016.0|ICD9CM_2014:016.00|MSH2017_2016_08_12:D014398|SNOMEDCT_US_2016_09_01:186236001|SNOMEDCT_US_2016_09_01:44323002 C0008313 Cholangitis, sclerosing CHOLANGITIS SCLEROSING | CHOLANGITIS, FIBROSING | CHOLANGITIS, OBLITERATIVE, CHRONIC | Cholangiitides, Sclerosing | Cholangiitis, Sclerosing | Cholangitides, Sclerosing | Cholangitis sclerosing | Cholangitis, Sclerosing | Cholangitis, Sclerosing [Disease/Finding] | SCLEROSING CHOLANGITIS | Sclerosing Cholangiitides | Sclerosing Cholangiitis | Sclerosing Cholangitides | Sclerosing Cholangitis | Sclerosing cholangitis | Sclerosing cholangitis (disorder) | Sclerosing cholangitis unspec | Sclerosing cholangitis unspecified | Sclerosing cholangitis unspecified (disorder) | chronic obliterative cholangitis | fibrosing cholangitis | sclerosing cholangiitis | sclerosing cholangitis | sclerosing cholangitis (diagnosis) MSH2017_2016_08_12:Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS. ICD10CM_2017:K83.0|MSH2017_2016_08_12:D015209|SNOMEDCT_US_2016_09_01:197443000|SNOMEDCT_US_2016_09_01:235917005|SNOMEDCT_US_2016_09_01:4032000 C0600125 Prolonged pr interval Electrocardiogram PR interval prolonged | Electrocardiogram PR prolongation | Electrocardiographic long PR interval | Lengthened PR interval on EKG | PR INTERVAL PROLONGED | PR interval prolonged | PR prolongation | Prolonged P-R interval | Prolonged P-R interval NOS | Prolonged P-R interval, NOS | Prolonged P-R interval, NOS (disorder) | Prolonged P-R interval, NOS (finding) | Prolonged P-R interval, [dup] NOS | Prolonged PR Interval | Prolonged PR Interval by ECG Finding | Prolonged PR Interval by EKG Finding | Prolonged PR interval | Prolonged PR interval (finding) | ecg pr interval prolonged | ecg pr interval prolonged (procedure) HPO2016_07_04:Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). [HPO:probinson] | NCI2016_02D:An electrocardiographic finding of a PR interval of more than 0.20 seconds in adults. HPO2016_07_04:HP:0012248|SNOMEDCT_US_2016_09_01:142116006|SNOMEDCT_US_2016_09_01:14256006|SNOMEDCT_US_2016_09_01:164947007|SNOMEDCT_US_2016_09_01:195041009|SNOMEDCT_US_2016_09_01:367413009 C0014863 Esophageal spasm diffuse DOS - Diffuse esophageal spasm | DOS - Diffuse oesophageal spasm | Diffuse Esophageal Spasm | Diffuse Esophageal Spasms | Diffuse esophageal spasm | Diffuse oesophageal spasm | Diffuse spasm of esophagus | Diffuse spasm of esophagus (disorder) | Diffuse spasm of oesophagus | ES - Esophageal spasm | ES - Oesophageal spasm | ESOPHAGEAL SPASM | ESOPHAGEAL SPASM DIFFUSE | ESOPHAGOSPASM | ESOPHAGUS, SPASM | Esophageal Spasm | Esophageal Spasm, Diffuse | Esophageal Spasm, Diffuse [Disease/Finding] | Esophageal Spasms | Esophageal Spasms, Diffuse | Esophageal spasm | Esophagism | Esophagospasm | Esophagospasm (disorder) | Esophagus, diffuse spasm | OESOPHAGOSPASM | OS - Esophageal spasm | OS - Oesophageal spasm | Oesophageal spasm | Oesophagism | Oesophagospasm | SPASM ESOPHAGEAL | Spasm esophageal | Spasm oesophageal | Spasm of esophagus | Spasm of oesophagus | Spasm, Diffuse Esophageal | Spasm, Esophageal | Spasm;oesophageal | Spasms, Diffuse Esophageal | Spasms, Esophageal | corkscrew esophagus | diffuse esophageal spasm | diffuse esophageal spasm (diagnosis) | diffuse esophageal spasms | diffuse oesophageal spasm | disorders esophageal motor | dyskinesia esophagus | dyskinesia of esophagus | dysmotility esophageal | esophageal dysmotility | esophageal motility disorder | esophageal motor disorder | esophageal spasm | esophageal spasms | esophagismus | esophagospasm | esophagospasms | esophagus spasm | esophagus spasms | esophagus; spasm | oesophageal dysmotility | oesophageal motility disorder | oesophageal spasm | oesophageal spasms | oesophagus spasm | oesophagus spasms | spasm esophageal | spasm of esophagus | spasm of oesophagus | spasm; esophagus MSH2017_2016_08_12:A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA. ICD10CM_2017:K22.4|MSH2017_2016_08_12:D015155|SNOMEDCT_US_2016_09_01:196614005|SNOMEDCT_US_2016_09_01:68681007|SNOMEDCT_US_2016_09_01:79962008 C1836272 Cataract, congenital nuclear, autosomal recessive 1 CATARACT 35 | CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 1 | CATCN1 | CTRCT35 | Cataract, Congenital Nuclear, Autosomal Recessive 1 MSH2017_2016_08_12:C563728|OMIM2016_04_17:609376 C3540680 Nci ctep sdc mastocytosis sub-category terminology Mastocytosis | NCI CTEP SDC Mastocytosis Sub-Category Terminology | NCI CTEP Simple Disease Classification Mastocytosis Sub-Category Terminology NCI2016_02D:Mastocytosis is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology. C1333157 Classic leiomyosarcoma Classic Leiomyosarcoma | Conventional Leiomyosarcoma NCI2016_02D:An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion. C3809147 Ddd2 DDD2 | DOWLING-DEGOS DISEASE 2 OMIM2016_04_17:607491|OMIM2016_04_17:615327 C0264291 Cyst of pharynx Cyst of Pharynx | Cyst of pharynx | Cyst of pharynx (disorder) | Cyst of the Pharynx | Pharyngeal Cyst | Pharyngeal cyst | Pharynx Cyst | cyst of pharynx | cyst of pharynx (diagnosis) ICD10CM_2017:J39.2|SNOMEDCT_US_2016_09_01:60100005 C1837528 Glaucoma 1, open angle, j GLAUCOMA 1, OPEN ANGLE, J | GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 2 | GLC1J | Glaucoma 1, Open Angle, J | Glaucoma, Primary Open Angle, Juvenile-Onset, 2 | JOAG2 MSH2017_2016_08_12:C563874|OMIM2016_04_17:608695 C1835095 Prominent, protruding upper incisors Increased width of permanent maxillary central incisor | Increased width of permanent upper central incisor | Long maxillary central incisors | Macrodontia of permanent maxillary central incisor | Prominent upper incisors | Prominent, protruding upper incisors HPO2016_07_04:Increased size of the maxillary central secondary incisor tooth. [HPO:ibailleulforestier] HPO2016_07_04:HP:0000675|OMIM2016_04_17:MTHU017238|OMIM2016_04_17:MTHU025464 C2212006 Ovarian small cell carcinoma Ovarian Small Cell Carcinoma | Ovarian Small Cell NEC | Ovarian Small Cell Neuroendocrine Carcinoma | small cell carcinoma of ovary | small cell carcinoma of ovary (diagnosis) NCI2016_02D:A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type. C4014942 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia CAGSSS | CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA OMIM2016_04_17:616007 C1853205 Glycosylphosphatidylinositol deficiency GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY | GPI DEFICIENCY | Glycosylphosphatidylinositol deficiency MSH2017_2016_08_12:C537277|OMIM2016_04_17:610273|OMIM2016_04_17:610293 C0270859 Lower half headache Lower half headache | Lower half migraine | Lower half migraine (disorder) | lower half migraine | lower half migraine (diagnosis) ICD10CM_2017:G44.00|SNOMEDCT_US_2016_09_01:26150009 C0018923 Hemangiosarcoma Angiosarcoma | Angiosarcoma (disorder) | Angiosarcoma NOS | Angiosarcomas | HEMANGIOSARCOMA, MALIGNANT | Haemangioendothelial sarcoma | Haemangioendothelioma malignant | Haemangioendothelioma, malignant | Haemangiosarcoma | Haemangiosarcoma NOS | Hemangioendothelial sarcoma | Hemangioendothelioma malignant | Hemangioendothelioma, malignant | Hemangioendothelioma, malignant (morphologic abnormality) | Hemangiosarcoma | Hemangiosarcoma (disorder) | Hemangiosarcoma (morphologic abnormality) | Hemangiosarcoma NOS | Hemangiosarcoma [Disease/Finding] | Hemangiosarcomas | Malignant Angioendothelioma | Malignant Hemangioendothelioma | Malignant haemangioendothelioma | Malignant hemangioendothelioma | angiosarcoma | angiosarcoma (diagnosis) | angiosarcomas | haemangiosarcoma | hemangiosarcoma | hemangiosarcomas | malignant hemangioendothelioma | malignant hemangioendothelioma (diagnosis) CSP2006:malignant neoplasm arising from vascular endothelial cells; the term may denote a specific histologic subtype, usually hemangiosarcoma, but also others such a lymphangiosarcoma or hemangiopericytoma. | MSH2017_2016_08_12:A rare malignant neoplasm characterized by rapidly proliferating, extensively infiltrating, anaplastic cells derived from blood vessels and lining irregular blood-filled or lumpy spaces. (Stedman, 25th ed) | NCI2016_02D:A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma. | NCI2016_CDISC_1602D:A malignant vascular neoplasm arising from endothelial cells. | NCI2016_NCI-GLOSS_1602D:A type of cancer that begins in the cells that line blood vessels. HPO2016_07_04:HP:0200058|MSH2017_2016_08_12:D006394|SNOMEDCT_US_2016_09_01:33176006|SNOMEDCT_US_2016_09_01:39000009|SNOMEDCT_US_2016_09_01:403977003 C1847866 Homozygous 11p15-p14 deletion syndrome HOMOZYGOUS 11p15-p14 DELETION SYNDROME | HYPERINSULINISM, INFANTILE, WITH ENTEROPATHY AND DEAFNESS | Homozygous 11p15-p14 Deletion Syndrome | Hyperinsulinism, Infantile, with Enteropathy and Deafness MSH2017_2016_08_12:C564701|OMIM2016_04_17:606528 C3160944 Vulvovaginal swelling Vulvovaginal swelling C0730345 Microalbuminuria ALBUMINURIA MICRO | Microalbuminuria | Microalbuminuria (finding) | [D]Microalbuminuria | [D]Microalbuminuria (context-dependent category) | [D]Microalbuminuria (situation) | microalbuminuria | microalbuminuria (diagnosis) HPO2016_07_04:The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day). [Eurenomics:fschaefer] HPO2016_07_04:HP:0012594|SNOMEDCT_US_2016_09_01:207314005|SNOMEDCT_US_2016_09_01:312975006|SNOMEDCT_US_2016_09_01:312976007 C0175691 Dubowitz syndrome DUBOWITZ SYNDROME | Dubowitz | Dubowitz Syndrome | Dubowitz syndrome | Dubowitz syndrome 1 | Dubowitz's syndrome | Dubowitz's syndrome (diagnosis) | Dubowitz's syndrome (disorder) | Dwarfism-eczema-peculiar facies syndrome | congenital malformation brain dubowitz's syndrome | dwarfism-eczema-peculiar facies syndrome JABL99:A syndrome of intrauterine dwarfism, short stature, mental retardation, sparse hair, eczema, and characteristic facies. The phenotype varies from normal growth and head circumference with mild psychomotor retardation and lack of eczema to severe growth and mental retardation, microcephaly, behavioral problems, aplastic anemia, immunological disorders, neoplasms, and eczema Some features of this syndrome are similar to those in Bloom and fetal alcohol syndromes. | NCI2016_02D:A rare, autosomal recessive inherited syndrome characterized by microcephaly, growth retardation, and a small, round, triangular shaped face with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. ICD10CM_2017:Q87.1|MSH2017_2016_08_12:C535718|OMIM2016_04_17:223370|SNOMEDCT_US_2016_09_01:2593002 C0026143 Milker's nodules MILKER'S NODULES | Milker Nodes | Milker's Node | Milker's Nodes | Milker's node | Milker's nodes | Milker's nodule | Milker's nodules | Milker's nodules (diagnosis) | Milkers Nodes | Milkers' node | Node, Milker's | Nodes, Milker's | PARAVACCINA | PARAVACCINIA | PSEUDOCOWPOX | Paravaccina | Paravaccinia | Paravaccinia NOS | Paravaccinia NOS (disorder) | Paravaccinia, unspecified | Pseudocowpox | Pseudocowpox (disorder) | milker's node | milker's nodule | milker's nodules | paravaccinia | paravaccinia (diagnosis) | pseudocowpox ICD10CM_2017:B08.04|ICD9CM_2014:051.1|ICD9CM_2014:051.9|MSH2017_2016_08_12:D011213|SNOMEDCT_US_2016_09_01:154344005|SNOMEDCT_US_2016_09_01:186507000|SNOMEDCT_US_2016_09_01:266193008|SNOMEDCT_US_2016_09_01:27240009 C1519924 Vaginal mixed epithelial and mesenchymal neoplasm Vaginal Mixed Epithelial and Mesenchymal Neoplasm | Vaginal Mixed Epithelial and Mesenchymal Tumor NCI2016_02D:A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of epithelial and mesenchymal elements. This category includes benign mixed tumor, adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma. C4280258 Asymmetry of head Asymmetry of head | Uneven head shape HPO2016_07_04:HP:0000267 C0020119 Human development Development | Development, Human | Human Development | human development MSH2017_2016_08_12:Continuous sequential changes which occur in the physiological and psychological functions during the life-time of an individual. | NANDA-I_2015-2017:Progress or regression through a sequence of recognized milestones in life | PSY2004:Conceptually broad term. Use a more specific term if possible. MSH2017_2016_08_12:D006803 C1832916 Timothy syndrome LONG QT SYNDROME 8 | LONG QT SYNDROME WITH SYNDACTYLY | LQT8 | LQT8 (Timothy syndrome) | LQT8 (Timothy syndrome) (diagnosis) | Long QT syndrome with syndactyly | Long Qt Syndrome 8 | TIMOTHY SYNDROME | TS | Timothy syndrome | Timothy syndrome classic type | Timothy syndrome type 1 | Timothy syndrome type 1 (disorder) MSH2017_2016_08_12:C536962|OMIM2016_04_17:114205|OMIM2016_04_17:601005|SNOMEDCT_US_2016_09_01:699256006 C0276786 Human balantidiasis B coli infection | Balantidiosis | Balantidium coli infection | Balantidium coli; infection | Human balantidiasis | Infection by Balantidium coli | Infection by Balantidium coli (disorder) | Infection caused by Balantidium coli | Infection caused by Balantidium coli (disorder) | Large-intestinal infection with Balantidium coli | infection; Balantidium coli MSH2017_2016_08_12:C531629|SNOMEDCT_US_2016_09_01:56722001 C0423320 Iridodonesis Iridodonesis | Iridodonesis (disorder) | Iris flutter | Tremulous iris | iridodonesis | iridodonesis (physical finding) | iridodonesis was observed HPO2016_07_04:Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens. [HPO:sdoelken] HPO2016_07_04:HP:0100693|OMIM2016_04_17:MTHU032993|SNOMEDCT_US_2016_09_01:118166004 C1392104 Coralliform cataract Coralliform cataract | cataract; coralliform | coralliform; cataract HPO2016_07_04:A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form. [HPO:probinson, HPO:vkumar] HPO2016_07_04:HP:0010921 C4020839 Multiple vertebral anomalies Multiple vertebral anomalies HPO2016_07_04:HP:0003468 C1865060 Molar tooth sign on mri Molar tooth sign' | 'Molar tooth sign' on MRI | 'Molar tooth sign' on brain imaging' | 'Molar tooth' sign on imaging | 'molar tooth sign' on brain imaging' | 'molar tooth' sign on imaging | Molar tooth sign | Molar tooth sign on MRI | Molar tooth sign on brain imaging HPO2016_07_04:An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. [HPO:probinson, pmid:14657304] HPO2016_07_04:HP:0002419|OMIM2016_04_17:MTHU000618|OMIM2016_04_17:MTHU002504|OMIM2016_04_17:MTHU012048|OMIM2016_04_17:MTHU020007|OMIM2016_04_17:MTHU020094|OMIM2016_04_17:MTHU031837|OMIM2016_04_17:MTHU044877 C1621920 Intermediate maple syrup urine disease Intermediate Maple Syrup Urine Disease | Intermediate branched chain ketoaciduria | Intermediate maple syrup urine disease | Intermediate maple syrup urine disease (disorder) | MAPLE SYRUP URINE DISEASE, INTERMEDIATE | Maple Syrup Urine Disease, Intermediate MSH2017_2016_08_12:D008375|OMIM2016_04_17:248600|SNOMEDCT_US_2016_09_01:22710004|SNOMEDCT_US_2016_09_01:405287008 C4043683 Keratoactinomycosis Keratoactinomycosis MSH2017_2016_08_12:C000598941 C0011142 Defense mechanism Defense Mechanisms | Ego defence mechanisms | Ego defense mechanisms | Mechanisms, Defense | Mental defence mechanisms | Mental defense mechanisms | Mental defense mechanisms (observable entity) | defense mechanism | defense mechanisms | defense mechanisms psychological | ego defense mechanisms | psychological defense mechanism CSP2006:mental processes, usually unconscious, used by individuals to cope with impulses, feelings, or ideas which are unacceptable at the conscious level. | MSH2017_2016_08_12:Unconscious process used by an individual or a group of individuals in order to cope with impulses, feelings or ideas which are not acceptable at their conscious level; various types include reaction formation, projection and self reversal. | PSY2004:Any intrapsychic strategies that serve to provide relief from emotional conflict or frustration or from unreasonable or undesirable thoughts which lead to anxiety, distress, or depression. MSH2017_2016_08_12:D003674|SNOMEDCT_US_2016_09_01:224992003 C0027055 Myocardial reperfusion injury Injuries, Myocardial Reperfusion | Injury, Myocardial Reperfusion | Myocardial Ischemic Reperfusion Injury | Myocardial Reperfusion Injuries | Myocardial Reperfusion Injury | Myocardial Reperfusion Injury [Disease/Finding] | Myocardial reperfusion injury | Reperfusion Injuries, Myocardial | Reperfusion Injury, Myocardial MSH2017_2016_08_12:Damage to the MYOCARDIUM resulting from MYOCARDIAL REPERFUSION (restoration of blood flow to ischemic areas of the HEART.) Reperfusion takes place when there is spontaneous thrombolysis, THROMBOLYTIC THERAPY, collateral flow from other coronary vascular beds, or reversal of vasospasm. MSH2017_2016_08_12:D015428 C4073167 Osteolysis involving bones of the upper limbs Osteolysis involving bones of the upper limbs HPO2016_07_04:HP:0045039 C0159018 Unspecified condition involving the integument and temperature regulation of fetus and newborn Unspecified condition involving the integument and temperature regulation of fetus and newborn | Unspecified condition involving the integument and temperature regulation of fetus and newborn. ICD9CM_2014:778.9 C0039234 Atrial tachycardia ectopic ATRIAL TACHYCARDIA ECTOPIC | Atrial Ectopic Tachycardia | Atrial Ectopic Tachycardias | Atrial Tachycardia, Ectopic | Atrial Tachycardias, Ectopic | Atrial ectopic tachycardia | Automatic atrial tachycardia | Ectopic Atrial Tachycardia | Ectopic Atrial Tachycardias | Ectopic Tachycardia, Atrial | Ectopic Tachycardias, Atrial | Ectopic atrial tachycardia | Ectopic atrial tachycardia (disorder) | Tachycardia, Atrial Ectopic | Tachycardia, Ectopic Atrial | Tachycardia, Ectopic Atrial [Disease/Finding] | Tachycardias, Atrial Ectopic | Tachycardias, Ectopic Atrial | atrial ectopic tachycardia | automatic atrial tachycardia | automatic atrial tachycardia (diagnosis) | ectopic atrial tachycardia | ectopic atrial tachycardia (diagnosis) MSH2017_2016_08_12:Abnormally rapid heartbeats originating from one or more automatic foci (nonsinus pacemakers) in the HEART ATRIUM but away from the SINOATRIAL NODE. Unlike the reentry mechanism, automatic tachycardia speeds up and slows down gradually. The episode is characterized by a HEART RATE between 135 to less than 200 beats per minute and lasting 30 seconds or longer. | NCI2016_02D:A disorder characterized by an electrocardiographic finding of atrial tachycardia that does not originate from the sinoatrial node. HPO2016_07_04:HP:0011700|MSH2017_2016_08_12:D013612|SNOMEDCT_US_2016_09_01:233892002 C1336440 Stage iv small cell carcinoma of lung Stage IV Small Cell Carcinoma of Lung | Stage IV Small Cell Carcinoma of the Lung | Stage IV Small Cell Lung Cancer | Stage IV Small Cell Lung Carcinoma | Stage IV Small Cell Lung Carcinoma AJCC v7 NCI2016_02D:Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b). M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion. M1b: Distant metastasis. (AJCC 7th ed.) C4020902 Abnormal urine alpha-ketoglutarate concentration Abnormal urine alpha-ketoglutarate concentration | Abnormality of urine alpha ketoglutarate concentration HPO2016_07_04:A deviation from normal of the concentration of 2-oxoglutaric acid in the urine. [HPO:probinson] HPO2016_07_04:HP:0012401 C0155506 Labyrinthitis suppurative Purulent labyrinthitis | Suppurative labyrinthitis | Suppurative labyrinthitis (disorder) | labyrinthitis suppurative | suppurative labyrinthitis | suppurative labyrinthitis (diagnosis) ICD9CM_2014:386.33|SNOMEDCT_US_2016_09_01:24817009 C0085253 Adult-onset still disease ADULT STILL'S DISEASE | AOSD (adult onset Still's disease) | Adult Onset Still Disease | Adult Onset Still's Disease | Adult Still's Disease | Adult onset Still disease | Adult onset Still's disease | Adult onset Still's disease (disorder) | Adult-Onset Still Disease | Adult-Onset Still's Disease | Adult-Onset Stills Disease | Adult-onset Still's disease | Adult-onset Still's disease, site unspecified | STILL DISEASE ADULT | Still Disease, Adult Onset | Still Disease, Adult-Onset | Still's Disease, Adult Onset | Still's Disease, Adult-Onset | Still's Disease, Adult-Onset [Disease/Finding] | Still's adult onset; disease | Still's disease adult onset | Still; adult-onset | Stills Disease, Adult-Onset | adult Still's disease | adult disease onset stills | adult disease still | adult disease stills | adult onset Still's disease | adult onset Still's disease (diagnosis) | adult onset still's disease | adult still disease | adult still's disease | adult-onset still's disease | adult-onset stills disease | adult-onset; Still | adults disease stills | disease; Still's adult onset | still's adult disease MSH2017_2016_08_12:Systemic-onset rheumatoid arthritis in adults. It differs from classical rheumatoid arthritis in that it is more often marked by acute febrile onset, and generalized lymphadenopathy and hepatosplenomegaly are more prominent. ICD10CM_2017:M06.1|MSH2017_2016_08_12:D016706|SNOMEDCT_US_2016_09_01:201449008|SNOMEDCT_US_2016_09_01:201815006|SNOMEDCT_US_2016_09_01:239920006 C3809482 Myopia 23, autosomal recessive MYOPIA 23, AUTOSOMAL RECESSIVE | MYP23 OMIM2016_04_17:104225|OMIM2016_04_17:615431 C0018477 Haemonchiases Haemonchiases | Haemonchiasis | Haemonchiasis [Disease/Finding] MSH2017_2016_08_12:Infection with nematodes of the genus HAEMONCHUS, characterized by digestive abnormalities and anemia similar to that from hookworm infestation. MSH2017_2016_08_12:D006188 C0026987 Myelofibrosis Agnogenic myeloid metaplasia | MF - Myelofibrosis | MMM | MYELOFIBROSIS | MYELOFIBROSIS WITH MYELOID METAPLASIA | Myelofibrosis | Myelofibrosis (disorder) | Myelofibrosis NOS | Myelofibrosis, NOS | Myelosclerosis | Myelosclerosis (disorder) | Myelosclerosis, NOS | Myelosis non-leukaemic | Myelosis non-leukemic | Myelosis nonleukemic | Myelosis-non-leukaemic | Myelosis-non-leukemic | bone fibrosis marrow | bone marrow fibrosis | chronic idiopathic myelofibrosis | fibrosis bone marrow | mos | myelofibrosis | myelofibrosis (diagnosis) | myelosclerosis CSP2006:replacement of the bone marrow by fibrous tissue, occurring in association with a myeloproliferative disorder or secondary to another unrelated condition. | HPO2016_07_04:Replacement of bone marrow by fibrous tissue. [HPO:probinson] | NCI2016_02D:A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003 | NCI2016_NCI-GLOSS_1602D:A disorder in which the bone marrow is replaced by fibrous tissue. HPO2016_07_04:HP:0011974|ICD10CM_2017:D75.81|ICD9CM_2014:289.83|OMIM2016_04_17:254450|OMIM2016_04_17:MTHU026125|SNOMEDCT_US_2016_09_01:154841009|SNOMEDCT_US_2016_09_01:267572005|SNOMEDCT_US_2016_09_01:52967002|SNOMEDCT_US_2016_09_01:78956007 C0033948 Disorder female orgasmic Female Orgasmic Disorder | Female orgasmic disorder | Inhibited female orgasm | Inhibited female orgasm (disorder) | Inhibited female orgasm, psychogenic | disorder female orgasmic | female orgasmic disorder | female orgasmic disorder (diagnosis) | inhibited female orgasm NCI2016_02D:A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse. HPO2016_07_04:HP:0030015|ICD10CM_2017:F52.31|ICD9CM_2014:302.73|SNOMEDCT_US_2016_09_01:191794003|SNOMEDCT_US_2016_09_01:60103007 C0263888 Back disorder BACK DISORDER | Back disorder | Back disorder NOS | Back disorders | Back disorders NOS | Back disorders NOS (disorder) | Disorder of back | Disorder of back (disorder) | Disorder of back, NOS | Disorder;back | back disorder | back disorders | disorder of back SCTSPA_2016_04_30:Trastorno de la espalda, incluida la nuca | SNOMEDCT_US_2016_09_01:Disorder of back including back of neck. SNOMEDCT_US_2016_09_01:156617007|SNOMEDCT_US_2016_09_01:202828002|SNOMEDCT_US_2016_09_01:267987008|SNOMEDCT_US_2016_09_01:268071005|SNOMEDCT_US_2016_09_01:33308003 C1835494 Laryngeal web, familial GLOTTIC WEB, CONGENITAL ANTERIOR | Glottic Web, Congenital Anterior | LARYNGEAL WEB, FAMILIAL | Laryngeal Web, Familial | SUBGLOTTIC BAR | SUBGLOTTIC WEB MSH2017_2016_08_12:C563636|OMIM2016_04_17:150360 C0002016 Aleutian mink disease Aleutian Disease of Mink | Aleutian Mink Disease | Aleutian Mink Disease [Disease/Finding] | Aleutian disease | Aleutian disease (disorder) | Aleutian mink disease | Disease, Aleutian Mink | Mink Aleutian disease | Mink Disease, Aleutian MSH2017_2016_08_12:A slow progressive disease of mink caused by the ALEUTIAN MINK DISEASE VIRUS. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible. MSH2017_2016_08_12:D000453|SNOMEDCT_US_2016_09_01:62251004 C3280586 Mannose-binding protein deficiency MANNOSE-BINDING LECTIN DEFICIENCY | MANNOSE-BINDING PROTEIN DEFICIENCY | MBL DEFICIENCY | MBL Deficiency | MBL deficiency | MBL2 DEFICIENCY | MBL2 Deficiency | MBL2 deficiency | MBP DEFICIENCY | MBP Deficiency | MBP deficiency | Mannose-Binding Lectin Deficiency | Mannose-Binding Lectin Protein Deficiency | Mannose-Binding Protein Deficiency | Mannose-binding lectin deficiency | Mannose-binding lectin deficiency (disorder) | Mannose-binding lectin protein deficiency | Mannose-binding protein deficiency MSH2017_2016_08_12:C563602|OMIM2016_04_17:154545|OMIM2016_04_17:614372|SNOMEDCT_US_2016_09_01:703538003 C1845286 Mental retardation, x-linked 82 MENTAL RETARDATION, X-LINKED 82 | MRX82 | Mental Retardation, X-Linked 82 MSH2017_2016_08_12:C564496|OMIM2016_04_17:300518 C1517842 Leuteoma of pregnancy Leuteoma of Pregnancy NCI2016_02D:A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required. C0008325 Cholecystitis CHOLECYSTITIS | Cholecystitis | Cholecystitis (disorder) | Cholecystitis NOS | Cholecystitis NOS (disorder) | Cholecystitis [Disease/Finding] | Cholecystitis, NOS | Cholecystitis, unspecified | GALL BLADDER INFLAMMATION | Gallbladder Inflammation | Gallbladder inflammation | INFLAMMATION GALL BLADDER | Inflamed gallbladder | Inflammation gallbladder | Inflammation, Gallbladder | cholecystitis | cholecystitis (diagnosis) | gall bladder inflammation | gallbladder inflammation | gallbladder; inflammation | inflammation; gallbladder CSP2006:inflammation of the gallbladder; generally caused by impairment of bile flow, gallstones in the biliary tract, infections, or other diseases. | HPO2016_07_04:The presence of inflammatory changes in the gallbladder. [HPO:probinson] | MSH2017_2016_08_12:Inflammation of the GALLBLADDER; generally caused by impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, or other diseases. | NCI2016_02D:An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones. | NCI2016_CTCAE_1602D:A disorder characterized by inflammation involving the gallbladder. It may be associated with the presence of gallstones. HPO2016_07_04:HP:0001082|ICD10CM_2017:K81|ICD10CM_2017:K81.9|ICD9CM_2014:575.10|MSH2017_2016_08_12:D002764|OMIM2016_04_17:MTHU009746|SNOMEDCT_US_2016_09_01:197414008|SNOMEDCT_US_2016_09_01:76581006 C0026916 Mycobacterium avium-intracellulare infection Bacillus; Battey | Infection caused by Mycobacterium intracellulare | Infection caused by Mycobacterium intracellulare (disorder) | Infection due to Mycobacterium intracellulare | Infection due to Mycobacterium intracellulare (disorder) | Infection mycobacterium avium | Infection, Mycobacterium avium intracellulare | Infection, Mycobacterium avium-intracellulare | Infection, Mycobacterium intracellulare | Infections, Mycobacterium avium-intracellulare | Infections, Mycobacterium intracellulare | MAC | MYCOBACTERIUM AVIUM COMPLEX INFECTION | MYCOBACTERIUM AVIUM-INTRACELLULARE INFECTION | Mycobacterium Avium Infection | Mycobacterium avium Complex | Mycobacterium avium complex | Mycobacterium avium complex infection | Mycobacterium avium intracellulare | Mycobacterium avium intracellulare Infection | Mycobacterium avium intracellulare infection | Mycobacterium avium-intracellulare Infection | Mycobacterium avium-intracellulare Infection [Disease/Finding] | Mycobacterium avium-intracellulare Infections | Mycobacterium avium-intracellulare complex infection | Mycobacterium avium-intracellulare complex infection (diagnosis) | Mycobacterium intracellulare Infection | Mycobacterium intracellulare Infections | Mycobacterium intracellulare infection | Mycobacterium; intracellulare | intracellulare; Mycobacterium MSH2017_2016_08_12:A nontuberculous infection when occurring in humans. It is characterized by pulmonary disease, lymphadenitis in children, and systemic disease in AIDS patients. Mycobacterium avium-intracellulare infection of birds and swine results in tuberculosis. MSH2017_2016_08_12:D015270|SNOMEDCT_US_2016_09_01:14009004|SNOMEDCT_US_2016_09_01:373436002 C1837396 Congenital disorder of glycosylation, type ie CDG Ie | CDG1E | CDGIe | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie | Congenital Disorder of Glycosylation, Type IE | Congenital disorder of glycosylation type 1E MSH2017_2016_08_12:C535743|OMIM2016_04_17:603503|OMIM2016_04_17:608799 C4024726 Mucopolysacchariduria Mucopolysacchariduria HPO2016_07_04:Excessive amounts of mucopolysaccharide in the urine. [HPO:probinson] HPO2016_07_04:HP:0008155 C0161406 Injury nerve trigeminal Cranial Nerve V Injury | Fifth Cranial Nerve Injuries | Fifth Cranial Nerve Injury | Fifth Nerve Palsy, Traumatic | Fifth Nerve Trauma | Fifth cranial nerve injury | Fifth-Nerve Palsies, Traumatic | Fifth-Nerve Palsy, Traumatic | Fifth-Nerve Trauma | Fifth-Nerve Traumas | Injuries, Trigeminal Nerve | Injury of fifth cranial nerve | Injury of trigeminal nerve | Injury of trigeminal nerve (disorder) | Injury to fifth cranial nerve | Injury to trigeminal nerve | Injury to trigeminal nerve (disorder) | Injury, Cranial Nerve V | Injury, Fifth Cranial Nerve | Injury, Trigeminal Nerve | Nerve Injuries, Trigeminal | Nerve Injury, Trigeminal | Nerve Trauma, Trigeminal | Nerve Traumas, Trigeminal | Neuropathies, Traumatic Trigeminal | Neuropathy, Traumatic Trigeminal | Palsies, Traumatic Fifth-Nerve | Palsy, Traumatic Fifth-Nerve | Trauma, Fifth-Nerve | Trauma, Trigeminal Nerve | Traumas, Fifth-Nerve | Traumas, Trigeminal Nerve | Traumatic Fifth Nerve Palsy | Traumatic Fifth-Nerve Palsies | Traumatic Fifth-Nerve Palsy | Traumatic Trigeminal Neuropathies | Traumatic Trigeminal Neuropathy | Trigeminal (5th) nerve injury | Trigeminal Nerve Injuries | Trigeminal Nerve Injuries [Disease/Finding] | Trigeminal Nerve Injury | Trigeminal Nerve Trauma | Trigeminal Nerve Traumas | Trigeminal Neuropathies, Traumatic | Trigeminal Neuropathy, Traumatic | Trigeminal nerve injury | Trigeminal nerve injury (disorder) | Vth nerve injury | injury nerve trigeminal | injury; nerve, cranial nerve, fifth | injury; trigeminal nerve | n.trigeminus; injury | trigeminal nerve injury | trigeminal nerve injury (diagnosis) MSH2017_2016_08_12:Traumatic injuries to the TRIGEMINAL NERVE. It may result in extreme pain, abnormal sensation in the areas the nerve innervates on face, jaw, gums and tongue and can cause difficulties with speech and chewing. It is sometimes associated with various dental treatments. ICD10CM_2017:S04.3|ICD9CM_2014:951.2|MSH2017_2016_08_12:D061221|SNOMEDCT_US_2016_09_01:157635005|SNOMEDCT_US_2016_09_01:304839004|SNOMEDCT_US_2016_09_01:72556006 C0477488 O spcf papulosquamous disor O spcf papulosquamous disor | Other specified papulosquamous disorders | [X]O spcf papulosquamous disor | [X]Other specified papulosquamous disorders | [X]Other specified papulosquamous disorders (disorder) ICD10CM_2017:L44.8|SNOMEDCT_US_2016_09_01:201376009 C0154190 Post-surgical hypoinsulinemia Hypoinsulinaemia postoperative | Hypoinsulinemia postoperative | Post surgical hypoinsulinaemia | Post surgical hypoinsulinemia | Post-surgical hypoinsulinaemia | Post-surgical hypoinsulinemia | Post-surgical hypoinsulinemia (disorder) | Postoperative hypoinsulinaemia | Postoperative hypoinsulinemia | Postsurgical hypoinsulinaemia | Postsurgical hypoinsulinemia | Postsurgical hypoinsulinemia (disorder) ICD10CM_2017:E89.1|ICD9CM_2014:251.3|SNOMEDCT_US_2016_09_01:190437000|SNOMEDCT_US_2016_09_01:78483000 C4021813 Oral cleft Cleft of the mouth | Oral cleft | Oral clefting HPO2016_07_04:The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. [HPO:probinson] HPO2016_07_04:HP:0000202 C0156084 Gastric dysfunction Disorder of function of stomach | Disorder of function of stomach (disorder) | Disorder of function of stomach, NOS | Disorder of gastric function | Disorder of gastric function (disorder) | Disorder of stomach function | Disorder stomach function | Disorder;stomach function | Disorders of function of stomach | Functional gastric disorder | Functional gastric disorder, NOS | Functional gastric disturbance | Functional gastric disturbance, NOS | Functional gastric irritation | Functional gastric irritation, NOS | Gastric function disorder | Gastric function disorder NOS | Stomach function disorder | Stomach function disorder NOS | Stomach function disorder NOS (disorder) | Unspecified functional disorder of stomach | disease (or disorder); stomach (functional) | disorders of function of stomach | disorders of function of stomach (diagnosis) | dysfunction; stomach | gastric dysfunction | stomach function disorder | stomach; disorder (functional) | stomach; functional disturbance ICD9CM_2014:536|ICD9CM_2014:536.9|SNOMEDCT_US_2016_09_01:155718002|SNOMEDCT_US_2016_09_01:155723002|SNOMEDCT_US_2016_09_01:196756004|SNOMEDCT_US_2016_09_01:26361009|SNOMEDCT_US_2016_09_01:386211005 C0264309 Cord disorders vocal Disease of vocal cords | Disease of vocal cords (disorder) | Disease of vocal cords, NOS | Disease or syndrome of vocal cords | Disorder of vocal cord | Disorder of vocal cord (disorder) | Vocal cord disorder | Vocal cord disorder NOS | cord disorders vocal | vocal cord disease | vocal cord disorder | vocal cord disorder (diagnosis) SNOMEDCT_US_2016_09_01:57781000 C1857720 Kallmann syndrome 4 KALLMANN SYNDROME 4 (disorder) | Kallmann Syndrome 4 MSH2017_2016_08_12:C565696 C2105258 Compression arthralgia of ankle or foot compression arthralgia of ankle or foot | compression arthralgia of ankle or foot (diagnosis) C0751356 Idiopathic inflammatory myopathies IIM | Idiopathic Inflammatory Myopathies | Idiopathic Inflammatory Myopathy | Idiopathic Inflammatory Myositis | Idiopathic inflammatory myopathy | Idiopathic inflammatory myopathy (disorder) | Idiopathic inflammatory myositis | Inflammatory Myopathies, Idiopathic | Inflammatory Myopathy, Idiopathic | Myopathies, Idiopathic Inflammatory | Myopathy, Idiopathic Inflammatory | idiopathic inflammatory myopathies | idiopathic inflammatory myopathy NCI2016_02D:An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies. | NCI2016_NICHD_1602D:An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of IIM are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies. MSH2017_2016_08_12:D009220|SNOMEDCT_US_2016_09_01:702380008 C0003873 Rheumatoid arthritis ARTHRITIS RHEUMATOID | ARTHRITIS, RHEUMATIC | ARTHRITIS, RHEUMATOID | Arthritis or polyarthritis, atrophic | Arthritis or polyarthritis, rheumatic | Arthritis rheumatoid | Arthritis, Rheumatoid | Arthritis, Rheumatoid [Disease/Finding] | Arthritis, rheumatic | Atrophic Arthritis | Atrophic arthritis | Chronic rheumatic arthritis | R arthritis | RA | RA (rheumatoid arthritis) | RA - Rheumatoid arthritis | RHEUMATOID ARTHRITIS | Rh arthritis | RhA - Rheumatoid arthritis | Rheumatic gout | Rheumatoid Arthritis | Rheumatoid arthritis | Rheumatoid arthritis (disorder) | Rheumatoid arthritis NOS | Rheumatoid arthritis NOS (disorder) | Rheumatoid arthritis, unspecified | Rheumatoid arthritis, unspecified, site unspecified | Rheumatoid disease | Systemic rheumatoid arthritis | arthritis; atrophic | arthritis; rheumatoid | atrophic arthritis | atrophic; arthritis | gout rheumatic | proliferative arthritis | ra | rheumatoid arthritis | rheumatoid arthritis (diagnosis) | rheumatoid arthritis systemic | rheumatoid; arthritis CSP2006:chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures; etiology is unknown, but autoimmune mechanisms have been implicated. | HPO2016_07_04:Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. [HPO:probinson] | MEDLINEPLUS_20151021:Rheumatoid arthritis (RA) is a form of arthritis that causes pain, swelling, stiffness and loss of function in your joints. It can affect any joint but is common in the wrist and fingers.
More women than men get rheumatoid arthritis. It often starts in middle age and is most common in older people. You might have the disease for only a short time, or symptoms might come and go. The severe form can last a lifetime.
Rheumatoid arthritis is different from osteoarthritis, the common arthritis that often comes with older age. RA can affect body parts besides joints, such as your eyes, mouth and lungs. RA is an autoimmune disease, which means the arthritis results from your immune system attacking your body's own tissues.
No one knows what causes rheumatoid arthritis. Genes, environment, and hormones might contribute. Treatments include medicine, lifestyle changes, and surgery. These can slow or stop joint damage and reduce pain and swelling.
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
| MSH2017_2016_08_12:A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated. | NCI2016_02D:A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor. | NCI2016_NCI-GLOSS_1602D:An autoimmune disease that causes pain, swelling, and stiffness in the joints, and may cause severe joint damage, loss of function, and disability. The disease may last from months to a lifetime, and symptoms may improve and worsen over time. | NCI2016_NICHD_1602D:A chronic, inflammatory condition manifesting primarily as a symmetric, erosive, polyarthritis that spares the axial skeleton and is typically associated with rheumatoid factor and anti-citrullinated protein antibodies. HPO2016_07_04:HP:0001370|ICD10CM_2017:M06.9|ICD9CM_2014:714.0|MSH2017_2016_08_12:D001172|OMIM2016_04_17:180300|OMIM2016_04_17:607218|OMIM2016_04_17:MTHU049127|SNOMEDCT_US_2016_09_01:156471009|SNOMEDCT_US_2016_09_01:156481008|SNOMEDCT_US_2016_09_01:287010008|SNOMEDCT_US_2016_09_01:69896004 C1534537 Haematoma of leg (Haematoma of leg) or (contusion, lower limb NOS) | (Haematoma of leg) or (contusion, lower limb NOS) (disorder) | (Hematoma of leg) or (contusion, lower limb NOS) | Haematoma of leg | Hematoma of leg | Hematoma of leg (disorder) SNOMEDCT_US_2016_09_01:211527009|SNOMEDCT_US_2016_09_01:425406006 C0266368 Congenital absence of ovary Absent ovary | Agenesis of ovary | Aplasia of the ovaries | Aplasia of the ovary | Congenital absence of ovary | Congenital absence of ovary (disorder) | OVARY, AGENESIS | OVARY, APLASIA | Ovarian agenesis | absence; ovary, congenital | agenesis; ovary | congenital absence of ovaries | congenital absence of ovaries (diagnosis) | ovary; absence, congenital | ovary; agenesis HPO2016_07_04:Aplasia, that is failure to develop, of the ovary. [HPO:probinson] HPO2016_07_04:HP:0010463|ICD10CM_2017:Q50.0|OMIM2016_04_17:MTHU028323|SNOMEDCT_US_2016_09_01:12017008|SNOMEDCT_US_2016_09_01:237791002 C1853250 Spinocerebellar ataxia 23 SCA23 | SPINOCEREBELLAR ATAXIA 23 | Spinocerebellar ataxia 23 MSH2017_2016_08_12:C537201|OMIM2016_04_17:131340|OMIM2016_04_17:610245 C0747057 Organic heart disease ORGANIC HEART DISEASE | Organic heart disease NOS | disease (or disorder); heart (organic) | disease heart organic | heart; disease (organic) | organic heart disease C0239998 Recurrent infections Frequent infections | Frequent, severe infections | INFECTION, RECURRENT | Increased frequency of infection | Predisposition to infections | Recurrent infection | Recurrent infections | Susceptibility to infection | infection recurrent | infections recurrent | infections, recurrent | recurrent infection HPO2016_07_04:Increased susceptibility to microbial infections, as manifested by recurrent episodes of infection. [HPO:probinson] HPO2016_07_04:HP:0002719|OMIM2016_04_17:MTHU000068|OMIM2016_04_17:MTHU001687|OMIM2016_04_17:MTHU014661|OMIM2016_04_17:MTHU016289 C4225203 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 | IHPRF2 OMIM2016_04_17:612636|OMIM2016_04_17:616801 C2936741 Syndrome xxyy 48, XXYY Syndrome | 48,XXYY Syndrome | Syndrome, Xxyy | Syndromes, Xxyy | XXYY Syndrome | XXYY syndrome | XXYY syndrome (diagnosis) | XXYY syndrome (disorder) | Xxyy Syndrome | Xxyy Syndromes | chromosomal anomaly xxyy syndrome | syndrome xxyy | xxyy syndrome NCI2016_02D:A rare sex chromosome abnormality in which a male child has an extra X and Y chromosome. MSH2017_2016_08_12:D007713|SNOMEDCT_US_2016_09_01:403760006 C3553932 Deafness, autosomal recessive 98 DEAFNESS, AUTOSOMAL RECESSIVE 98 | DFNB98 OMIM2016_04_17:612920|OMIM2016_04_17:614861 C1332606 Brain germinoma Brain Germinoma | Germinoma of Brain | Germinoma of the Brain | germinoma of brain | germinoma of brain (diagnosis) C0393674 Epilepsy with recurrent unilateral seizures in children Epilepsy with recurrent unilateral seizures in children | Epilepsy with recurrent unilateral seizures in children (disorder) SNOMEDCT_US_2016_09_01:230385000 C1334691 Melanomatosis Melanomatosis C0743381 Eclamptic seizure ECLAMPTIC SEIZURE | Eclamptic fit | Eclamptic seizure | Eclamptic seizure (finding) SNOMEDCT_US_2016_09_01:426634003 C0399401 Erosion of teeth due to persistent vomiting Erosion of teeth due to persistent vomiting | Erosion of teeth due to persistent vomiting (disorder) | Teeth erosion due to vomiting | erosion of teeth due to persistent vomiting | erosion of teeth due to persistent vomiting (diagnosis) | tooth erosion due to persistent vomiting ICD10CM_2017:K03.2|SNOMEDCT_US_2016_09_01:52031007 C1861825 Cataract, posterior polar, 1 ARCC2 | CATARACT 6, MULTIPLE TYPES | CATARACT, AGE-RELATED CORTICAL, 2 | CATARACT, POSTERIOR POLAR, 1 | CTPP1 | CTRCT6 | Cataract, posterior polar, 1 | Posterior polar cataract, 1 MSH2017_2016_08_12:C535339|OMIM2016_04_17:116600 C0265945 Berry aneurysm of anterior communicating artery Berry aneurysm of anterior communicating artery | Congenital aneurysm of anterior communicating artery | Congenital aneurysm of anterior communicating artery (disorder) SNOMEDCT_US_2016_09_01:590005 C4025707 Abnormal motor neuron morphology Abnormal motor neuron morphology | Abnormal shape of motor neuron HPO2016_07_04:Any structural anomal that affects the motor neuron. [] HPO2016_07_04:HP:0002450 C0410157 Fibrositis and nodular fasciitis Fibrositis and nodular fasciitis | Fibrositis and nodular fasciitis (disorder) SNOMEDCT_US_2016_09_01:240044003 C3550704 Digital anomalies Abnormality of digit | Digital anomalies HPO2016_07_04:A morphological abnormality of a digit, i.e., of a finger or toe. [HPO:probinson] HPO2016_07_04:HP:0011297|OMIM2016_04_17:MTHU037946 C1408258 Kidney damage Kidney damage | damage; renal | kidney; damage HPO2016_07_04:HP:0000112 C1335107 Groove meningiomas, olfactory Groove Meningiomas, Olfactory | Meningioma of Olfactory Groove | Meningioma of the Olfactory Groove | Meningioma, Olfactory Groove | Meningiomas, Olfactory Groove | Olfactory Groove Meningioma | Olfactory Groove Meningiomas NCI2016_02D:A meningioma that affects the olfactory sulcus. MSH2017_2016_08_12:D008579 C2678223 Mental retardation, x-linked, with panhypopituitarism MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM | Mental Retardation, X-Linked, With Panhypopituitarism MSH2017_2016_08_12:C567485|OMIM2016_04_17:300123 C0028945 Oligodendroglioma Oligodendroglioma | Oligodendrogliomas | oligodendroglioma MSH2017_2016_08_12:A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655) MSH2017_2016_08_12:D009837|OMIM2016_04_17:MTHU036793 C0270911 Charcot-marie-tooth disease, type ia (disorder) CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A | CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A | CMT1A | Charcot Marie Tooth Disease, Type 1A | Charcot Marie Tooth Disease, Type IA | Charcot Marie Tooth Neuropathy, Type 1A | Charcot-Marie-Tooth Disease Type 1A | Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A | Charcot-Marie-Tooth Disease, Demyelinating, Type 1A | Charcot-Marie-Tooth Disease, Type 1A | Charcot-Marie-Tooth Disease, Type IA | Charcot-Marie-Tooth Disease, Type Ia (disorder) | Charcot-Marie-Tooth Neuropathy, Type 1A | Charcot-Marie-Tooth disease Type 1A | Charcot-Marie-Tooth disease Type 1A (diagnosis) | Charcot-Marie-Tooth disease, type IA | Charcot-Marie-Tooth disease, type IA (disorder) | HEREDITARY MOTOR AND SENSORY NEUROPATHY IA | HMSN 1A | HMSN IA | HMSN1A | Hereditary Motor and Sensory Neuropathy 1A | Hereditary Motor and Sensory Neuropathy IA NCI2016_02D:Charcot-Marie-Tooth disease caused by mutations in the PMP22 gene (mapped to chromosome 17), resulting in peripheral nerve demyelination. MSH2017_2016_08_12:D002607|OMIM2016_04_17:118220|OMIM2016_04_17:601097|SNOMEDCT_US_2016_09_01:40632002 C1846464 Globe retraction and deviation on adduction Globe retraction and deviation on adduction HPO2016_07_04:HP:0009921|OMIM2016_04_17:MTHU003472 C0334283 G cell; tumor, malignant, unspecified site G cell tumor, malignant | G cell tumour, malignant | G cell; tumor, malignant, unspecified site | Gastrin cell tumor, malignant | Gastrin cell tumour, malignant | Gastrinoma malignant | Gastrinoma, malignant | Gastrinoma, malignant (morphologic abnormality) | Malignant G cell tumor | Malignant G cell tumour | Malignant Gastrinoma | Malignant gastrinoma | gastrinoma; malignant, unspecified site | malignant gastrinoma | malignant gastrinoma (diagnosis) | malignant; gastrinoma, unspecified site | tumor; G cell, malignant, unspecified site NCI2016_02D:A gastrin-producing neuroendocrine tumor. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. It displays vascular invasion and metastasizes to other anatomic sites. SNOMEDCT_US_2016_09_01:19756007 C0038054 Tropical sprue DIARRHEA, TROPICAL | Idiopathic Tropical Malabsorption Syndrome | Post-Infective Tropical Malabsorption | SPRUE, TROPICAL | Sprue - tropical | Sprue, Tropical | Sprue, Tropical [Disease/Finding] | TROPICAL SPRUE | TS - Tropical sprue | Tropical Sprue | Tropical enteropathy | Tropical malabsorption syndrome | Tropical sprue | Tropical sprue (disorder) | Tropical steatorrhea | Tropical steatorrhoea | diarrhea tropical | diarrhea; tropical | sprue tropical | steatorrhea; tropical | tropical diarrhea | tropical sprue | tropical sprue (diagnosis) | tropical; diarrhea | tropical; sprue | tropical; steatorrhea CSP2006:chronic malabsorption syndrome occuring mainly in residents of or visitors to the tropics or subtropics; failed intestinal absorption of nutrients results in malnutrition and anemia due to folate deficiency. | MSH2017_2016_08_12:A chronic malabsorption syndrome, occurring mainly in residents of or visitors to the tropics or subtropics. The failed INTESTINAL ABSORPTION of nutrients from the SMALL INTESTINE results in MALNUTRITION and ANEMIA that is due to FOLIC ACID deficiency. | NCI2016_02D:A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common. ICD10CM_2017:K90.1|ICD9CM_2014:579.1|MSH2017_2016_08_12:D013182|SNOMEDCT_US_2016_09_01:155846005|SNOMEDCT_US_2016_09_01:266547002|SNOMEDCT_US_2016_09_01:47384003 C0744746 Hemiparesis ataxic Ataxic hemiparesis | Ataxic hemiparesis (disorder) | HEMIPARESIS ATAXIC SNOMEDCT_US_2016_09_01:29951000119107 C0268281 Infantile neuronal ceroid lipofuscinosis Hagberg-Santavouri type neuronal ceroid lipofuscinosis | Hagberg-Santavuori disease | Haltia-Santavouri type neuronal ceroid lipofuscinosis | INCL | Infantile Neuronal Ceroid Lipofuscinosis | Infantile neuronal ceroid lipofuscinosis | Infantile neuronal ceroid lipofuscinosis (disorder) | NEURONAL CEROID LIPOFUSCINOSIS, INFANTILE | Neuronal Ceroid Lipofuscinosis, Infantile | Neuronal ceroid lipofuscinosis infantile Finnish type | Neuronal ceroid lipofuscinosis, infantile Finnish type | Polyunsaturated acid lipidosis | Polyunsaturated fatty acid lipidosis | SANTAVUORI-HALTIA DISEASE | Santavuori Disease | Santavuori Haltia Disease | Santavuori disease | Santavuori-Haltia Disease MSH2017_2016_08_12:This type is caused by mutation in the gene (CLN1or PPT1) encoding palmitoyl-protein thioesterase (THIOLESTER HYDROLASES), an enzyme involved in catabolism of lipid-modified proteins. | NCI2016_02D:A very rare form of neuronal ceroid lipofuscinosis inherited in an autosomal recessive pattern. During the first six to eighteen months of life development is normal. Subsequently, patients develop developmental abnormalities in speech and motor skills, blindness, epilepsy, and seizures. MSH2017_2016_08_12:D009472|OMIM2016_04_17:256730|SNOMEDCT_US_2016_09_01:58258004 C0017525 Giant cell tumors Cell Tumor, Giant | Cell Tumors, Giant | GCT - Giant cell tumor | GCT - Giant cell tumour | GIANT CELL TUMOR | GIANT CELL TUMOR, UNDETERMINED | GIANT CELL TUMORS | Giant Cell Neoplasm | Giant Cell Tumor | Giant Cell Tumors | Giant Cell Tumors [Disease/Finding] | Giant cell tumor | Giant cell tumor (disorder) | Giant cell tumor (morphologic abnormality) | Giant cell tumor (qualifier value) | Giant cell tumor NOS | Giant cell tumors | Giant cell tumour | Giant cell tumour NOS | Giant cell tumours | Tumor of Giant Cell | Tumor of the Giant Cell | Tumor, Giant Cell | Tumor, giant cell type | Tumors, Giant Cell | Tumour, giant cell type | [M]Giant cell tumor NOS | [M]Giant cell tumor NOS (morphologic abnormality) | [M]Giant cell tumors | [M]Giant cell tumors (morphologic abnormality) | [M]Giant cell tumour NOS | [M]Giant cell tumours | cell giant tumor | cell giant tumors | cells giant tumor | cells giants tumor | giant cell tumor | giant cell tumors | giant cell tumour | giant cell tumours MSH2017_2016_08_12:Tumors of bone tissue or synovial or other soft tissue characterized by the presence of giant cells. The most common are giant cell tumor of tendon sheath and GIANT CELL TUMOR OF BONE. | NCI2016_02D:A benign, intermediate, or malignant neoplasm characterized by the presence of neoplastic giant cells. | NCI2016_02D:A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells. | NCI2016_CDISC_1602D:A neoplasm of bone comprised of giant cells (osteoclast-like) and mononuclear cells, for which the malignancy status has not been established. MSH2017_2016_08_12:D005870|SNOMEDCT_US_2016_09_01:115238001|SNOMEDCT_US_2016_09_01:134300001|SNOMEDCT_US_2016_09_01:189890001|SNOMEDCT_US_2016_09_01:189893004|SNOMEDCT_US_2016_09_01:443790001 C2718304 Sulfoiduronate sulfatase deficiency Deficiency, I2S | Deficiency, Iduronate 2-Sulfatase | Deficiency, Iduronate Sulfatase | Deficiency, Sulfoiduronate Sulfatase | I2S Deficiency | Iduronate 2 Sulfatase Deficiency | Iduronate 2-Sulfatase Deficiency | Iduronate Sulfatase Deficiency | Sulfoiduronate Sulfatase Deficiency MSH2017_2016_08_12:D016532 C1335395 Petroclival meningioma Petroclival Meningioma NCI2016_02D:A meningioma that affects the petroclival region. C0001261 Actinomycosis ACTINOMYCOSIS | ACTINOMYCOTIC INFECTIONS | Actinomyces Infection | Actinomyces Infections | Actinomyces; infection | Actinomycoses | Actinomycosis | Actinomycosis (disorder) | Actinomycosis NOS | Actinomycosis [Disease/Finding] | Actinomycosis unspecified site | Actinomycosis unspecified site (disorder) | Actinomycosis unspecified site NOS | Actinomycosis unspecified site NOS (disorder) | Actinomycosis, NOS | Actinomycosis, unspecified | Actinomycotic infection | Actinomycotic infection (disorder) | Actinomycotic infection of unspecified site | Actinomycotic infection, NOS | Actinomycotic infections | Actinomycotic infectious disorders | Infection, Actinomyces | Infections, Actinomyces | [X]Actinomycosis, unspecified | [X]Actinomycosis, unspecified (disorder) | actinomyces infection | actinomycoses | actinomycosis | actinomycosis (diagnosis) | actinomycotic infection | actinomycotic; infection | infection; Actinomyces | infection; actinomycotic MSH2017_2016_08_12:Infections with bacteria of the genus ACTINOMYCES. | NCI2016_02D:An infectious process caused by bacteria of the Actinomyces species. It is characterized by the formation of purulent and painful abscesses in the mouth, lungs and gastrointestinal tract. ICD10CM_2017:A42|ICD10CM_2017:A42.9|ICD9CM_2014:039|ICD9CM_2014:039.9|MSH2017_2016_08_12:D000196|SNOMEDCT_US_2016_09_01:11817007|SNOMEDCT_US_2016_09_01:154314007|SNOMEDCT_US_2016_09_01:186402009|SNOMEDCT_US_2016_09_01:186405006|SNOMEDCT_US_2016_09_01:187335006|SNOMEDCT_US_2016_09_01:238416009|SNOMEDCT_US_2016_09_01:266185008|SNOMEDCT_US_2016_09_01:50508009 C1519001 Peripheral nerve schwannoma Peripheral Nerve Schwannoma NCI2016_02D:A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported. C4021777 Abnormality of the larynx Abnormality of the larynx | Laryngeal abnormalities | Laryngeal abnormality | Laryngeal anomalies HPO2016_07_04:An abnormality of the larynx. [HPO:probinson] HPO2016_07_04:HP:0001600 C3809039 Mental retardation, autosomal recessive 36 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 | MRT36 OMIM2016_04_17:615286|OMIM2016_04_17:615302 C0029534 Other cerebellar ataxia Other cerebellar ataxia ICD9CM_2014:334.3 C1835857 Aneurysm, intracranial berry, 5 ANEURYSM, INTRACRANIAL BERRY, 5 | ANIB5 | Aneurysm, Intracranial Berry, 5 MSH2017_2016_08_12:C563670|OMIM2016_04_17:300870 C2748527 Keratosis follicularis spinulosa decalvans, autosomal dominant (disorder) KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT | KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) | KFSD | Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant MSH2017_2016_08_12:C567553|OMIM2016_04_17:612843 C1845336 Autism, x-linked, susceptibility to, 3 (finding) AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 | AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding) | AUTSX3 OMIM2016_04_17:300005|OMIM2016_04_17:300496 C0039730 Thalassemia Hereditary leptocytosis | Leptocytosis, hereditary | THALASSEMIA | THALASSEMIAS | Thalassaemia | Thalassaemia (disorder) | Thalassaemia NOS | Thalassaemia syndrome | Thalassaemia, unspecified | Thalassaemias | Thalassaemic disorders | Thalassemia | Thalassemia (disorder) | Thalassemia NOS | Thalassemia NOS (disorder) | Thalassemia [Disease/Finding] | Thalassemia syndrome | Thalassemia syndrome (disorder) | Thalassemia syndrome, NOS | Thalassemia, NOS | Thalassemia, unspecified | Thalassemias | Thalassemic Syndromes | Thalassemic syndrome | anemia; thalassemia | hemoglobinopathy; with thalassemia | hypochromic / microcytic thalassemia | hypochromic / microcytic thalassemia (diagnosis) | hypochromic / microcytic thalassemia anemia | leptocytosis; hereditary | syndromes thalassemia | thalassaemia | thalassaemias | thalassemia | thalassemia (diagnosis) | thalassemia disorder | thalassemia; anemia | thalassemia; disorder, hemoglobin | thalassemia; hemoglobinopathy (with thalassemia) | thalassemias CHV2011_02:An inherited form of anemia | CSP2006:heterogeneous group of hereditary hemolytic anemias which have in common a decreased rate of synthesis of one or more hemoglobin polypeptide chains. | MEDLINEPLUS_20151021:Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent.
Thalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones.
Doctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant.
NIH: National Heart, Lung, and Blood Institute
| MSH2017_2016_08_12:A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia. | NCI2016_02D:An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. ICD10CM_2017:D56|ICD10CM_2017:D56.9|ICD9CM_2014:282.4|ICD9CM_2014:282.40|MSH2017_2016_08_12:D013789|SNOMEDCT_US_2016_09_01:154796005|SNOMEDCT_US_2016_09_01:191182000|SNOMEDCT_US_2016_09_01:191192008|SNOMEDCT_US_2016_09_01:191193003|SNOMEDCT_US_2016_09_01:267521001|SNOMEDCT_US_2016_09_01:267557006|SNOMEDCT_US_2016_09_01:40108008|SNOMEDCT_US_2016_09_01:84188003 C0003090 Ankylosis ANKYLOSES | ANKYLOSIS | Ankylosed joints | Ankyloses | Ankylosis | Ankylosis (morphologic abnormality) | Ankylosis [Disease/Finding] | Ankylosis of joint | Ankylosis of joint (disorder) | Ankylosis of joint NOS | Ankylosis of joint NOS (disorder) | Ankylosis of joint, site unspecified | Ankylosis, NOS | Frozen joint | Fusion of joint | Fusion of joint, NOS | Joint Ankylosis | Joint ankylosis | Joint ankylosis of unspecified site | Joint ankylosis of unspecified site (disorder) | Joint ankylosis-site unspecif. | Joint fused | Joint fusion | ankyloses | ankylosis | ankylosis of joint | ankylosis of joint (diagnosis) | ankylosis of joint (physical finding) | ankylosis was seen | frozen joint | frozen joints | fusion of joint | fusion; joint | joint ankylosis | joint fusion | joint; fusion MSH2017_2016_08_12:Fixation and immobility of a joint. ICD10CM_2017:M24.6|ICD9CM_2014:718.5|ICD9CM_2014:718.50|MSH2017_2016_08_12:D000844|OMIM2016_04_17:MTHU023986|OMIM2016_04_17:MTHU048962|SNOMEDCT_US_2016_09_01:111227009|SNOMEDCT_US_2016_09_01:156559001|SNOMEDCT_US_2016_09_01:156569007|SNOMEDCT_US_2016_09_01:202297005|SNOMEDCT_US_2016_09_01:202323002|SNOMEDCT_US_2016_09_01:36504009 C0853897 Diabetic cardiomyopathies Cardiomyopathies, Diabetic | Cardiomyopathy, Diabetic | Diabetic Cardiomyopathies | Diabetic Cardiomyopathies [Disease/Finding] | Diabetic Cardiomyopathy | Diabetic cardiomyopathy | diabetic cardiomyopathy CSP2006:complication of diabetes that affects the structure and function of the heart. | MSH2017_2016_08_12:Diabetes complications in which VENTRICULAR REMODELING in the absence of CORONARY ATHEROSCLEROSIS and hypertension results in cardiac dysfunctions, typically LEFT VENTRICULAR DYSFUNCTION. The changes also result in myocardial hypertrophy, myocardial necrosis and fibrosis, and collagen deposition due to impaired glucose tolerance. MSH2017_2016_08_12:D058065 C3150894 Chromosome 19p13.13 deletion syndrome CHROMOSOME 19p13.13 DELETION SYNDROME OMIM2016_04_17:613638 C0154482 Sedative, hypnotic or anxiolytic dependence, continuous Barbiturate and similarly acting sedative or hypnotic dependence, continuous use | Sedative, hypnotic or anxiolytic dependence, continuous ICD9CM_2014:304.11 C3280965 Congenital cataracts, hearing loss, and neurodegeneration CCHLND | CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION OMIM2016_04_17:603690|OMIM2016_04_17:614482 C0151940 Hypocalcemic tetany HYPOCALCEMIC TETANY | Hypocalcaemic tetany | Hypocalcemic tetany | Hypocalcemic tetany (disorder) | TETANY HYPOCALCEMIC | Tetany hypocalcaemic | Tetany hypocalcemic HPO2016_07_04:Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. [HPO:probinson] HPO2016_07_04:HP:0003472|OMIM2016_04_17:MTHU019662|SNOMEDCT_US_2016_09_01:190869004 C0206142 Eosinophilic leukemia EOSINOPHILIC LEUKEMIA | Eosinophil leukaemia | Eosinophil leukemia | Eosinophilic Leukemia | Eosinophilic Leukemias | Eosinophilic leukaemia | Eosinophilic leukaemia -RETIRED- | Eosinophilic leukaemia NOS | Eosinophilic leukaemias | Eosinophilic leukemia | Eosinophilic leukemia (morphologic abnormality) | Eosinophilic leukemia -RETIRED- | Eosinophilic leukemia NOS | Eosinophilic leukemias | LEUKEMIA EOSINOPHILIC | LEUKEMIA, EOSINOPHILIC | Leukaemia eosinophilic | Leukemia eosinophilic | Leukemia, Eosinophilic | Leukemias, Eosinophilic | [M]Eosinophilic leukaemia NOS | [M]Eosinophilic leukaemias | [M]Eosinophilic leukemia NOS | [M]Eosinophilic leukemia NOS (morphologic abnormality) | [M]Eosinophilic leukemias | [M]Eosinophilic leukemias (morphologic abnormality) | eosinophil leukemia | eosinophilic leukaemia | eosinophilic leukemia | eosinophilic leukemia (diagnosis) | eosinophilic; leukemia | eosinophils leukemia | leukemia eosinophilic | leukemia; eosinophilic MSH2017_2016_08_12:D017681|SNOMEDCT_US_2016_09_01:190054004|SNOMEDCT_US_2016_09_01:190055003|SNOMEDCT_US_2016_09_01:190056002|SNOMEDCT_US_2016_09_01:37810007|SNOMEDCT_US_2016_09_01:57147001 C2105256 Compression arthralgia of hip compression arthralgia of hip | compression arthralgia of hip (diagnosis) C4280253 Increased porosity of tooth enamel Increased porosity of tooth enamel HPO2016_07_04:HP:0006285 C0032870 Poxviridae infections DISEASES DUE TO POXVIRIDAE | DISEASES DUE TO UNASSIGNED POXVIRIDAE | Disease caused by Poxviridae | Disease caused by Poxviridae (disorder) | Disease caused by unassigned Poxviridae | Disease caused by unassigned Poxviridae (disorder) | Disease due to Poxviridae | Disease due to Poxviridae (disorder) | Disease due to unassigned Poxviridae | Disease due to unassigned Poxviridae (disorder) | Disease due to unassigned Poxviridae, NOS | Infection, Poxviridae | Infection, Poxvirus | Infections, Poxviridae | Infections, Poxvirus | Pox virus infection | Poxviridae Infection | Poxviridae Infections | Poxviridae Infections [Disease/Finding] | Poxviridae disease | Poxvirus Infection | Poxvirus Infections | Poxvirus infection | Poxvirus infection, NOS | Poxvirus infections, unspecified | poxvirus infection | poxvirus infection (diagnosis) CSP2006:virus diseases caused by the Poxviridae; includes diseases such as smallpox, variola, yaba, molluscum contagiosum, monkeypox, cowpox, lumpy skin disease, infectious myxomatosis, infectious ectromelia, mousepox, etc. | MSH2017_2016_08_12:Virus diseases caused by the POXVIRIDAE. | MSHFRE2016:Maladies virales dues aux POXVIRIDAE. ICD9CM_2014:059.9|MSH2017_2016_08_12:D011213|SNOMEDCT_US_2016_09_01:105630005|SNOMEDCT_US_2016_09_01:32790009 C0025269 Multiple endocrine neoplasia type 2b MEA 2b | MEA IIb | MEA syndrome, type IIb | MEN 2B | MEN 2B - Multiple endocrine neoplasia type 2B | MEN 2B syndrome | MEN 2b | MEN 3 | MEN 3 - Multiple endocrine neoplasia type 3 | MEN 3 syndrome | MEN IIB | MEN III | MEN IIb | MEN Type 2B | MEN Type IIB | MEN, type 3 | MEN2B | MEN2b | MEN3, FORMERLY | MUCOSAL NEUROMA SYNDROME | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB | MULTIPLE ENDOCRINE NEOPLASIA, TYPE III, FORMERLY | Mucosal Neuroma Syndrome | Mucosal Neuroma Syndromes | Mucosal neuroma syndrome | Multiple Endocrine Adenomatosis Type IIB | Multiple Endocrine Neoplasia Type 2B | Multiple Endocrine Neoplasia Type 2b | Multiple Endocrine Neoplasia Type 2b [Disease/Finding] | Multiple Endocrine Neoplasia Type IIB | Multiple Endocrine Neoplasia Type III | Multiple Endocrine Neoplasia, Type 2b | Multiple Endocrine Neoplasia, Type III | Multiple Endocrine Neoplasia, Type IIb | Multiple Endocrine Neoplasms Type 2b | Multiple endocrine adenomatosis Type IIb | Multiple endocrine adenomatosis, type IIb | Multiple endocrine neoplasia Type 2B | Multiple endocrine neoplasia Type IIB | Multiple endocrine neoplasia [MEN] type IIB | Multiple endocrine neoplasia type 2B | Multiple endocrine neoplasia type 3 | Multiple endocrine neoplasia type III | Multiple endocrine neoplasia, type 2b | Multiple endocrine neoplasia, type 3 | Multiple endocrine neoplasia, type 3 (disorder) | NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS | Neoplasia, Multiple Endocrine Type 2b | Neoplasms, Multiple Endocrine Type 2b | Neuroma Syndrome, Mucosal | Neuromata, Mucosal, With Endocrine Tumors | Syndrome, Wagenmann-Froboese | WAGENMANN-FROBOESE SYNDROME | Wagenmann Froboese Syndrome | Wagenmann-Froboese Syndrome | men 2b | men iib | men iii | mucosal neuroma syndrome | type IIb multiple endocrine neoplasia | type IIb multiple endocrine neoplasia (diagnosis) MSH2017_2016_08_12:Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distinguished from MEN2A by its neural abnormalities such as mucosal NEUROMAS on EYELIDS; LIP; and TONGUE, and ganglioneuromatosis of GASTROINTESTINAL TRACT leading to MEGACOLON. It is an autosomal dominant inherited disease. | NCI2016_02D:Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas and numerous neural defects including neuromas. ICD10CM_2017:E31.23|ICD9CM_2014:258.03|MSH2017_2016_08_12:D018814|OMIM2016_04_17:162300|OMIM2016_04_17:164761|SNOMEDCT_US_2016_09_01:61530001 C0796184 Corpus callosum, agenesis of, with facial anomalies and robin sequence CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE | Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence | TORIELLO-CAREY SYNDROME | Toriello-Carey Syndrome | Toriello-Carey syndrome | corpus callosum agenesis-facial anomalies-Robin sequence syndrome JABL99:Multiple congenital anomaly consisting of agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, malformed ears, redundant neck skin, laryngeal abnormalities, heart defect, short hands, hypotonia, occasional Hirschsprung disease, and moderate to severe developmental delay. MSH2017_2016_08_12:C563127|OMIM2016_04_17:217980 C0272269 Cold erythema associated with haemolysins Cold erythema associated with haemolysins | Cold erythema associated with hemolysins | Cold erythema associated with hemolysins (disorder) SNOMEDCT_US_2016_09_01:30048004 C1846278 Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity (disorder) MEHMO | MEHMO syndrome | MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY | MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) | MENTAL RETARDATION, X-LINKED, SYNDROMIC 20 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 25 | MRXS20 | MRXS25 | Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity | X-linked MEHMO syndrome MSH2017_2016_08_12:C537451|OMIM2016_04_17:300148 C0472349 Epilepsy; localization-related, symptomatic Localisation-related symptomatic epilepsy | Localization-related symptomatic epilepsy | Localization-related symptomatic epilepsy (diagnosis) | Localization-related symptomatic epilepsy (disorder) | epilepsy localization-related symptomatic | epilepsy; localization-related, symptomatic SNOMEDCT_US_2016_09_01:230390002 C1863239 Partial adenosine deaminase deficiency ADENOSINE DEAMINASE DEFICIENCY, PARTIAL | Adenosine Deaminase Deficiency, Partial | Delayed-Late-Onset Adenosine Deaminase Deficiency | PARTIAL ADA DEFICIENCY | Partial ADA Deficiency | Partial adenosine deaminase deficiency | SCID DUE TO ADA DEFICIENCY, DELAYED ONSET | SCID DUE TO ADA DEFICIENCY, LATE-ONSET | SCID Due to ADA Deficiency, Delayed Onset | SCID Due to ADA Deficiency, Late-Onset MSH2017_2016_08_12:C531816|OMIM2016_04_17:102700|OMIM2016_04_17:608958 C1644196 Ectopia lentis with ectopia of pupil ECTOPIA LENTIS ET PUPILLAE | ECTOPIA LENTIS WITH ECTOPIA OF PUPIL | Ectopia Lentis et Pupillae | Ectopia Lentis with Ectopia of Pupil | Ectopia lentis et pupillae | Ectopia lentis et pupillae (disorder) | ectopia lentis et pupillae (diagnosis) MSH2017_2016_08_12:C563268|OMIM2016_04_17:225200|OMIM2016_04_17:610113|SNOMEDCT_US_2016_09_01:419237004 C0027707 Nephritis, interstitial IN - Interstitial nephritis | INTERSTITIAL NEPHRITIS | Interstitial Nephritides | Interstitial Nephritis | Interstitial Renal Diseases and Syndromes | Interstitial nephritis | Interstitial nephritis (disorder) | Interstitial nephritis (qualifier value) | Interstitial nephritis NOS | Interstitial nephritis, NOS | Interstitial renal disease or syndrome | NEPHRITIS INTERSTITIAL | Nephritides, Interstitial | Nephritis interstitial | Nephritis, Interstitial | Nephritis, Interstitial [Disease/Finding] | Nephritis, interstitial | Tubulointerstitial Nephritis | disease (or disorder); renal, with interstitial nephritis | disease tubulointerstitial | interstitial nephritis | interstitial nephritis (diagnosis) | nephritis interstitial | renal; disease, with interstitial nephritis | tubulointerstitial disease | tubulointerstitial nephropathy CSP2006:diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the tubules. | MSH2017_2016_08_12:Inflammation of the interstitial tissue of the kidney. This term is generally used for primary inflammation of KIDNEY TUBULES and/or surrounding interstitium. For primary inflammation of glomerular interstitium, see GLOMERULONEPHRITIS. Infiltration of the inflammatory cells into the interstitial compartment results in EDEMA, increased spaces between the tubules, and tubular renal dysfunction. | NCI2016_02D:Inflammation of the renal tubules and supporting tissues of the kidney. | NCI2016_CDISC_1602D:Generalized inflammation of the renal interstitium characterized by a diffuse or patchy distribution of lymphocytes, plasma cells and/or macrophages and variable degrees of edema. | NCI2016_NICHD_1602D:Inflammation of the renal tubules and supporting tissues of the kidney. ICD10CM_2017:N12|MSH2017_2016_08_12:D009395|OMIM2016_04_17:MTHU011503|SNOMEDCT_US_2016_09_01:264536006|SNOMEDCT_US_2016_09_01:28689008 C1563142 Hamartoma of retina Hamartoma of retina | Hamartoma of retina (disorder) SNOMEDCT_US_2016_09_01:417125003 C0023827 Liposarcoma Fibroliposarcoma | LIPOSARCOMA | LIPOSARCOMA, MALIGNANT | Liposarcoma | Liposarcoma (disorder) | Liposarcoma (morphologic abnormality) | Liposarcoma NOS | Liposarcoma Not Otherwise Specified | Liposarcoma [Disease/Finding] | Liposarcoma morphology | Liposarcoma, NOS | Liposarcoma, no ICD-O subtype | Liposarcoma, no ICD-O subtype (morphologic abnormality) | Liposarcoma, no International Classification of Diseases for Oncology subtype | Liposarcoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) | Liposarcomas | Liposarcomas malignant | [M]Liposarcoma NOS | [M]Liposarcoma NOS (morphologic abnormality) | liposarcoma | liposarcoma (diagnosis) | liposarcomas CSP2006:malignant tumor derived from primitive or embryonal lipoblastic cells; may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid, round-celled, or pleomorphic, usually in association with a rich network of capillaries; recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. | HPO2016_07_04:Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway. [MPATH:418] | MSH2017_2016_08_12:A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed) | NCI2016_02D:A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors. | NCI2016_CDISC_1602D:A malignant neoplasm composed of adipose tissue. HPO2016_07_04:HP:0012034|MSH2017_2016_08_12:D008080|SNOMEDCT_US_2016_09_01:189777004|SNOMEDCT_US_2016_09_01:254829001|SNOMEDCT_US_2016_09_01:49430005 C3149462 Hyperalphalipoproteinemia 1 CETP DEFICIENCY | CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY | HALP1 | HYPERALPHALIPOPROTEINEMIA 1 OMIM2016_04_17:118470|OMIM2016_04_17:143470 C3669246 Mammary adenocarcinoma Adenocarcinoma of mammary gland | Mammary adenocarcinoma | Mammary adenocarcinoma (disorder) C1553188 Hemolysis - observation Hemolysis | Hemolysis - observation HL7V3.0_2015_07:An observation of the hemolysis index of the specimen in g/L
C0234629 Abnormal color vision Abnormal color vision | Abnormal color vision (finding) | Abnormal color vision, NOS | Abnormal colour vision | Abnormal colour vision, NOS | Abnormality of color vision HPO2016_07_04:An anomaly in the ability to discriminate between or recognize colors. [HPO:probinson] HPO2016_07_04:HP:0000551|OMIM2016_04_17:MTHU042237|SNOMEDCT_US_2016_09_01:23289000 C3854315 Pseudoprimary hyperaldosteronism Liddle syndrome | Pseudoaldosteronism | Pseudoprimary aldosteronism | Pseudoprimary hyperaldosteronism | Pseudoprimary hyperaldosteronism (disorder) SNOMEDCT_US_2016_09_01:707747007 C4015242 Retinal dystrophy, juvenile cataracts, and short stature syndrome RDJCSS | RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME OMIM2016_04_17:616108 C4274118 Joubert syndrome with ocular defect Joubert syndrome with ocular defect | Joubert syndrome with ocular defect (disorder) | Joubert syndrome with retinopathy SNOMEDCT_US_2016_09_01:The most frequent subtype of Joubert syndrome with manifestation of neurological features of Joubert Syndrome associated with retinal dystrophy. Prevalence is unknown. Age of onset and severity of retinal involvement are variable, ranging from congenital to progressive retinopathy with partial conservation of vision. To date, the most frequently mutated gene in this subtype is AHI1 (6q23.2), which accounts for about 20% of cases, following autosomal recessive inheritance. SNOMEDCT_US_2016_09_01:716998009 C1864111 Myopia 3 (disorder) MYOPIA 3 (disorder) | MYOPIA 3, AUTOSOMAL DOMINANT | MYP3 | Myopia 3 MSH2017_2016_08_12:C566397|OMIM2016_04_17:603221 C4022946 Abnormal glycosylation Abnormal glycosylation HPO2016_07_04:An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. [HPO:probinson] HPO2016_07_04:HP:0012345 C3150896 Neuropathy, hereditary sensory and autonomic, type ic HSAN IC | HSAN1C | HSN IC | HSN1C | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC | NEUROPATHY, HEREDITARY SENSORY, TYPE IC OMIM2016_04_17:605713|OMIM2016_04_17:613640 C1535950 Gastrointestinal inflammation Gastrointestinal inflammation HPO2016_07_04:HP:0004386 C0438237 Liver enzymes abnormal Abnormal liver enzymes | Hepatic enzyme abnormal | LIVER ENZYME ABNORMAL | Liver enzyme abnormal | Liver enzymes abnormal | Liver enzymes abnormal (finding) | abnormal enzymes liver | abnormal hepatic enzyme | abnormal liver enzyme | abnormal liver enzyme (diagnosis) | abnormal liver enzymes | liver enzymes abnormal HPO2016_07_04:HP:0002910|OMIM2016_04_17:MTHU024633|SNOMEDCT_US_2016_09_01:143962006|SNOMEDCT_US_2016_09_01:166643006 C0042025 Urinary stress incontinence Bladder incontinence, stress | GSI - Genuine stress incontinence | Genuine stress incontinence | Genuine stress incontinence (disorder) | Genuine stress incontinence (finding) | Incontinence - stress | Incontinence when straining | Incontinence, Urinary Stress | Incontinence;urine;stress | SI - Stress incontinence | STRESS INCONTINENCE | Stress Incontinence | Stress Incontinence Of Urine | Stress Incontinence, Urinary | Stress Urinary Incontinence | Stress bladder incontinence | Stress incontinence | Stress incontinence (& symptom) | Stress incontinence (& symptom) (finding) | Stress incontinence - symptom | Stress incontinence, urinary | Stress urinary incontinence | Stress urinary incontinence (disorder) | URINARY INCONTINENCE STRESS | Urinary Incontinence, Stress | Urinary Incontinence, Stress [Disease/Finding] | Urinary Stress Incontinence | Urinary stress incontinence | genuine stress incontinence | incontinence stress | incontinence stress urinary | incontinence stressed urinary | incontinence urinary stress | incontinence; stress | incontinence; urinary, stress | rndx stress urinary incontinence | rndx stress urinary incontinence (diagnosis) | stress incontinence | stress incontinence (diagnosis) | stress urinary incontinence | stress; incontinence | urinary stress incontinence | urine; incontinence, stress CCC2_5:Loss of urine occurring with increased abdominal pressure | HPO2016_07_04:In voluntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing. [HPO:probinson, pmid:12559262] | MSH2017_2016_08_12:Involuntary discharge of URINE as a result of physical activities that increase abdominal pressure on the URINARY BLADDER without detrusor contraction or overdistended bladder. The subtypes are classified by the degree of leakage, descent and opening of the bladder neck and URETHRA without bladder contraction, and sphincter deficiency. | NANDA-I_2015-2017:Sudden leakage of urine with activities that increase intra-abdominal pressure. HPO2016_07_04:HP:0010992|MSH2017_2016_08_12:D014550|SNOMEDCT_US_2016_09_01:139400003|SNOMEDCT_US_2016_09_01:14624007|SNOMEDCT_US_2016_09_01:156028007|SNOMEDCT_US_2016_09_01:162124008|SNOMEDCT_US_2016_09_01:197943008|SNOMEDCT_US_2016_09_01:22220005|SNOMEDCT_US_2016_09_01:266668007 C0232944 Secondary dysmenorrhoea Congestive dysmenorrhea | Congestive dysmenorrhoea | Dysmenorrhea, secondary | Secondary dysmenorrhea | Secondary dysmenorrhea (disorder) | Secondary dysmenorrhea (finding) | Secondary dysmenorrhoea | Secondary dysmenorrhoea (disorder) | congestive; dysmenorrhea | dysmenorrhea secondary | dysmenorrhea; congestive | dysmenorrhea; secondary | secondary dysmenorrhea | secondary dysmenorrhea (diagnosis) | secondary dysmenorrhoea | secondary; dysmenorrhea ICD10CM_2017:N94.5|SNOMEDCT_US_2016_09_01:156025005|SNOMEDCT_US_2016_09_01:198406004|SNOMEDCT_US_2016_09_01:266667002|SNOMEDCT_US_2016_09_01:32096006 C0021071 Immunoproliferative small intestinal disease ALPHA CHAIN DISEASE | ALPHA HCD | ALPHA HEAVY CHAIN DISEASE | ALPHA-HEAVY CHAIN DISEASE | Alpha Heavy Chain Disease | Alpha heavy chain disease | Alpha heavy chain disease (clinical) | Alpha heavy chain disease (diagnosis) | Alpha heavy chain disease (disorder) | Alpha heavy chain disease -RETIRED- | Alpha heavy chain disease [dup] (disorder) | Alpha heavy chain disease, NOS | Alpha heavy chain disease, enteric form | Alpha heavy chain disease, enteric form (diagnosis) | Alpha heavy chain disease, enteric form (disorder) | Disease, alpha-Chain | Diseases, alpha-Chain | Heavy Chain Disease, IgA Type | Heavy chain disease, IgA type | IGA HEAVY CHAIN DISEASE | IMMUNOPROLIFERATIVE SMALL INTESTINE DISEASE | IPSID | IgA heavy chain disease | IgA heavy chain disease, NOS | Immunoproliferative Small Intestinal Disease | Immunoproliferative Small Intestinal Disease [Disease/Finding] | Immunoproliferative small intestinal disease | Immunoproliferative small intestinal disease (clinical) | Immunoproliferative small intestinal disease (disorder) | Immunoproliferative small intestinal disease (morphologic abnormality) | Imunoprolif smal intest dis | Lymphoma, Mediterranean | Mediterranean Abdominal Lymphoma | Mediterranean Lymphoma | Mediterranean lymphoma | Mediterranean lymphoma (clinical) | Mediterraneanl Lymphoma | [M] Alpha heavy chain disease | [M] Alpha heavy chain disease (morphologic abnormality) | [M] Immunoproliferative small intestinal disease | [M] Immunoproliferative small intestinal disease (morphologic abnormality) | [M]Imunoprolif smal intest dis | alpha Chain Disease | alpha heavy chain; disease | alpha-Chain Disease | alpha-Chain Diseases | alpha-Chain disease | alpha-chain disease | alpha; alpha heavy chain disease | chain alpha disease | disease (or disorder); alpha heavy chain | disease (or disorder); heavy chain, alpha | disease (or disorder); immunoproliferative, small intestine | disease; alpha heavy chain | heavy chain alpha | heavy chain disease alpha | heavy chain disease alpha, enteric form | immunoproliferative intestinal disease | immunoproliferative small intestinal disease | immunoproliferative small intestinal disease (diagnosis) | immunoproliferative; disease, small intestine | ipsid | lymphoma; mediterranean | mediterranean; lymphoma MSH2017_2016_08_12:A condition that is caused by HYPERPLASIA of LYMPHOCYTES in the small intestine (INTESTINE, SMALL) and the mesenteric LYMPH NODES. These lymphocytes produce an anomalous alpha heavy chain protein. Generally, these IPSID patients have either concurrent LYMPHOMA or develop lymphoma within a few years. The disease was first described in the Mediterranean region and is characterized by malabsorption; WEIGHT LOSS; DIARRHEA; and STEATORRHEA. | NCI2016_02D:A clonal disorder, also known as immunoproliferative small intestinal disease or Mediterranean lymphoma, characterised by the secretion of a defective alpha heavy chain. It predominantly affects young people in the Mediterranean region. It involves the small intestine, and patients usually present with malabsorption syndrome, abdominal pain, weight loss, and fever. There is extensive villous atrophy of the small intestinal mucosa, which is heavily infiltrated by small lymphocytes and plasma cells. The small intestinal morphologic changes are consistent with a mucosa-associated lymphoid tissue lymphoma (MALT lymphoma). ICD10CM_2017:C88.3|MSH2017_2016_08_12:D007161|SNOMEDCT_US_2016_09_01:109982002|SNOMEDCT_US_2016_09_01:109985000|SNOMEDCT_US_2016_09_01:123312002|SNOMEDCT_US_2016_09_01:123313007|SNOMEDCT_US_2016_09_01:134181009|SNOMEDCT_US_2016_09_01:190009000|SNOMEDCT_US_2016_09_01:190819007|SNOMEDCT_US_2016_09_01:27461004|SNOMEDCT_US_2016_09_01:6381009 C0020224 Polyhydramnios Excessive liquor | HYDRAMNIOS | Hydramnios | Hydrops amnii | Hydrops amnion | Hydrops of amnion | Hydrops of amnion (diagnosis) | Hydrops of amnion (disorder) | POLYHYDRAMNIOS | Polyhydramnios | Polyhydramnios &/or hydramnios | Polyhydramnios &/or hydramnios (disorder) | Polyhydramnios (disorder) | Polyhydramnios NOS | Polyhydramnios NOS (disorder) | Polyhydramnios [Disease/Finding] | Polyhydramnios and hydramnios | Polyhydramnios and hydramnios (disorder) | Polyhydramnios unspecified | Polyhydramnios unspecified (disorder) | hydramnios | hydrops; amnii | placental disorders hydrops of amnion | polyhydramnios | polyhydramnios (diagnosis) | pregnancy; amniotic fluid, disorder, polyhydramnios | pregnancy; hydramnios | pregnancy; hydrops amnii | pregnancy; polyhydramnios HPO2016_07_04:The presence of excess amniotic fluid in the uterus during pregnancy. [HPO:probinson] | MSH2017_2016_08_12:A condition of abnormally high AMNIOTIC FLUID volume, such as greater than 2,000 ml in the LAST TRIMESTER and usually diagnosed by ultrasonographic criteria (AMNIOTIC FLUID INDEX). It is associated with maternal DIABETES MELLITUS; MULTIPLE PREGNANCY; CHROMOSOMAL DISORDERS; and congenital abnormalities. | NCI2016_02D:An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm.(NICHD) | NCI2016_CDISC_1602D:Excessive (increased) amount of amniotic fluid. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) | NCI2016_NICHD_1602D:An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm. HPO2016_07_04:HP:0001561|ICD10CM_2017:O40|ICD9CM_2014:657|ICD9CM_2014:657.0|MSH2017_2016_08_12:D006831|OMIM2016_04_17:MTHU036439|OMIM2016_04_17:MTHU037881|SNOMEDCT_US_2016_09_01:156188008|SNOMEDCT_US_2016_09_01:157052008|SNOMEDCT_US_2016_09_01:199644009|SNOMEDCT_US_2016_09_01:199645005|SNOMEDCT_US_2016_09_01:199648007|SNOMEDCT_US_2016_09_01:199650004|SNOMEDCT_US_2016_09_01:267261001|SNOMEDCT_US_2016_09_01:405235009|SNOMEDCT_US_2016_09_01:86203003 C1858120 Generalized hypotonia Generalized hypotonia | Generalized muscular hypotonia | Hypotonia, generalized | generalized hypotonia | generalized hypotonia (physical finding) HPO2016_07_04:Generalized muscular hypotonia (abnormally low muscle tone). [HPO:curators] HPO2016_07_04:HP:0001290|OMIM2016_04_17:MTHU004663|OMIM2016_04_17:MTHU007289 C0271165 Punctate cataract Cataract, punctate | Punctate cataract | Punctate cataract (disorder) HPO2016_07_04:A type of cataract with punctate opacities of the lens. [HPO:probinson] HPO2016_07_04:HP:0007648|SNOMEDCT_US_2016_09_01:40714009 C4225219 Immunodeficiency 46 IMD46 | IMMUNODEFICIENCY 46 OMIM2016_04_17:190010|OMIM2016_04_17:616740 C1260402 Splenic sequestration Splenic sequestration | splenic sequestration | splenic sequestration (diagnosis) ICD9CM_2014:289.52 C0029408 Degenerative polyarthritis ARTHRITIS OSTEOARTHRITIS | ARTHRITIS, HYPERTROPHIC | ARTHRITIS, SENESCENT | ARTHROPATHY, DEGENERATIVE | Arthritides, Degenerative | Arthritis, Degenerative | Arthritis;degenerative | DEGENERATIVE JOINT DISEASE | DJD | Degeneration;joint(s) | Degenerative Arthritides | Degenerative Arthritis | Degenerative Joint Disease | Degenerative arthritis | Degenerative arthritis, NOS | Degenerative arthropathy | Degenerative arthropathy (disorder) | Degenerative arthropathy, NOS | Degenerative joint disease | Degenerative joint disease (disorder) | Degenerative joint disease, NOS | Degenerative polyarthritis | Degenerative polyarthritis (disorder) | Degenerative polyarthritis, NOS | Hypertrophic arthritis | Hypertrophic arthritis, NOS | Hypertrophic polyarthritis | Hypertrophic polyarthritis, NOS | JOINT DISEASE, DEGENERATIVE | Joint degeneration | O/A | OA | OA - Osteoarthritis | OA - Osteoarthrosis | OSTEOARTHRITIS | OSTEOARTHROSIS | Osteoarthritides | Osteoarthritis | Osteoarthritis (& [allied disorders]) | Osteoarthritis (M15-M19) | Osteoarthritis (disorder) | Osteoarthritis NOS | Osteoarthritis NOS (disorder) | Osteoarthritis NOS, of unspecified site | Osteoarthritis NOS, of unspecified site (disorder) | Osteoarthritis NOS-site unspec | Osteoarthritis [Disease/Finding] | Osteoarthritis and allied disorders | Osteoarthritis, NOS | Osteoarthritis, degenerative | Osteoarthritis, unspecified site | Osteoarthritis;degenerative | Osteoarthroses | Osteoarthrosis | Osteoarthrosis (OA) | Osteoarthrosis (disorder) | Osteoarthrosis, NOS | Osteoarthrosis, unspecified whether generalized or localized | [Joint degeneration] or [osteoarthritis NOS] | [Joint degeneration] or [osteoarthritis NOS] (disorder) | a o | arthritis degenerative | arthritis osteoarthritis | arthritis; hypertrophy | arthrosis | degenerative arthritis | degenerative arthropathy | degenerative disease joint | degenerative disease joints | degenerative diseases joint | degenerative joint disease | degenerative osteoarthritis | hypertrophic arthritis | hypertrophy; arthritis | joint(s) degeneration | joint; osteoarthrosis | o a | oa | oa osteoarthritis | oas | osteoarthritis | osteoarthritis (diagnosis) | osteoarthritis arthritis | osteoarthritis degenerative | osteoarthrosis | osteoarthrosis (diagnosis) | primary OA CSP2006:noninflammatory degenerative joint disease occurring chiefly in older persons, characterized by degeneration of the articular cartilage, hypertrophy of bone at the margins, and changes in the synovial membrane, accompanied by pain and stiffness. | MEDLINEPLUS_20151021:Osteoarthritis is the most common form of arthritis. It causes pain, swelling, and reduced motion in your joints. It can occur in any joint, but usually it affects your hands, knees, hips or spine.
Osteoarthritis breaks down the cartilage in your joints. Cartilage is the slippery tissue that covers the ends of bones in a joint. Healthy cartilage absorbs the shock of movement. When you lose cartilage, your bones rub together. Over time, this rubbing can permanently damage the joint.
Risk factors for osteoarthritis include
No single test can diagnose osteoarthritis. Most doctors use several methods, including medical history, a physical exam, x-rays, or lab tests.
Treatments include exercise, medicines, and sometimes surgery.
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
| MSH2017_2016_08_12:A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans. | NCI2016_02D:A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity.(On-line Medical Dictionary) HPO2016_07_04:HP:0001379|HPO2016_07_04:HP:0002758|ICD10CM_2017:M15-M19|ICD10CM_2017:M19.9|ICD10CM_2017:M19.90|ICD9CM_2014:715.9|MSH2017_2016_08_12:D010003|OMIM2016_04_17:MTHU005547|OMIM2016_04_17:MTHU005594|OMIM2016_04_17:MTHU007552|SNOMEDCT_US_2016_09_01:156486003|SNOMEDCT_US_2016_09_01:156496007|SNOMEDCT_US_2016_09_01:201818008|SNOMEDCT_US_2016_09_01:201886002|SNOMEDCT_US_2016_09_01:201887006|SNOMEDCT_US_2016_09_01:201917002|SNOMEDCT_US_2016_09_01:224729007|SNOMEDCT_US_2016_09_01:225655006|SNOMEDCT_US_2016_09_01:226586002|SNOMEDCT_US_2016_09_01:227588009|SNOMEDCT_US_2016_09_01:267888004|SNOMEDCT_US_2016_09_01:267893001|SNOMEDCT_US_2016_09_01:396275006|SNOMEDCT_US_2016_09_01:80843008 C0240379 Open mouth Gaped jawed appearance | Gaped mouthed appearance | Open mouth | Open mouth (finding) | Open mouth appearance | Slack jawed appearance | mouth open | mouth opening | open mouth HPO2016_07_04:A facial appearance characterized by a permanently or nearly permanently opened mouth. [HPO:probinson] HPO2016_07_04:HP:0000194|OMIM2016_04_17:MTHU002602|OMIM2016_04_17:MTHU013756|SNOMEDCT_US_2016_09_01:262016004 C0566693 Large placenta Large placenta | Large placenta (finding) | Placental enlargement | large placenta | large placenta (physical finding) HPO2016_07_04:Increased size of the placenta. [HPO:probinson] HPO2016_07_04:HP:0006267|OMIM2016_04_17:MTHU011726|OMIM2016_04_17:MTHU023469|SNOMEDCT_US_2016_09_01:289263000 C1866048 Severe hydrops fetalis Severe hydrops | Severe hydrops fetalis HPO2016_07_04:HP:0005099|OMIM2016_04_17:MTHU005668|OMIM2016_04_17:MTHU041796 C0018051 Gonadal dysgenesis Dysgenesis, Gonadal | GONADAL DYSGENESIS | Gonadal Dysgenesis | Gonadal Dysgenesis [Disease/Finding] | Gonadal dysgenesis | Gonadal dysgenesis (disorder) | Gonadal dysgenesis NOS | Gonadal dysgenesis NOS (disorder) | Gonadal dysgenesis syndrome | dysgenesis; gonadal | gonadal dysgenesis | gonadal dysgenesis syndrome | gonadal; dysgenesis MSH2017_2016_08_12:A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis. | NCI2016_02D:A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. | NCI2016_NCI-GLOSS_1602D:Abnormal development of a gonad (ovary or testicle). Men with gonadal dysgenesis have a greater risk of developing testicular cancer. Gonadal dysgenesis is usually part of a genetic syndrome. HPO2016_07_04:HP:0000133|ICD9CM_2014:758.6|MSH2017_2016_08_12:D006059|OMIM2016_04_17:MTHU014907|SNOMEDCT_US_2016_09_01:157020008|SNOMEDCT_US_2016_09_01:205681004|SNOMEDCT_US_2016_09_01:205692003|SNOMEDCT_US_2016_09_01:205695001|SNOMEDCT_US_2016_09_01:268356004|SNOMEDCT_US_2016_09_01:38804009 C0035317 Retinal hemorrhage Bleeding intraretinal | HEMORRHAGE RETINAL | Haemorrhage - retinal | Haemorrhage retinal | Haemorrhage;retinal | Hemorrhage - retinal | Hemorrhage retinal | Hemorrhage, Retinal | Hemorrhage, retinal | Hemorrhage;retinal | Intraretinal haemorrhage | Intraretinal hemorrhage | RETINA, HEMORRHAGE | RETINAL BLEEDING | RETINAL HAEMORRHAGE | RETINAL HEMORRHAGE | Retinal Hemorrhage | Retinal Hemorrhage [Disease/Finding] | Retinal Hemorrhages | Retinal bleeding | Retinal haemorrhage | Retinal haemorrhage NOS | Retinal haemorrhage, NOS | Retinal haemorrhages | Retinal hemorrhage | Retinal hemorrhage (disorder) | Retinal hemorrhage (finding) | Retinal hemorrhage NOS | Retinal hemorrhage NOS (disorder) | Retinal hemorrhage, NOS | Retinal hemorrhage, unspecified eye | Retinal hemorrhages | bleeding retinal | bleeds retinal | hemorrhage retina | hemorrhage; retina | hemorrhages intraretinal | hemorrhages retina | hemorrhages retinal | intraretinal hemorrhage | retina hemorrhage | retina; hemorrhage | retinal bleed | retinal bleeding | retinal haemorrhage | retinal haemorrhages | retinal hemorrhage | retinal hemorrhage (diagnosis) | retinal hemorrhage (physical finding) | retinal hemorrhages CSP2006:escape of blood from the vessels of the innermost of the three tunics of the eyeball or retina. | HPO2016_07_04:Hemorrhage occurring within the retina. [HPO:gcarletti] | MSH2017_2016_08_12:Bleeding from the vessels of the retina. HPO2016_07_04:HP:0000573|ICD10CM_2017:H35.6|ICD10CM_2017:H35.60|ICD9CM_2014:362.81|MSH2017_2016_08_12:D012166|OMIM2016_04_17:MTHU037127|OMIM2016_04_17:MTHU037133|OMIM2016_04_17:MTHU038298|SNOMEDCT_US_2016_09_01:193418005|SNOMEDCT_US_2016_09_01:193422000|SNOMEDCT_US_2016_09_01:28998008 C1847610 Deficit in expressive language Deficit in expressive language HPO2016_07_04:HP:0002474|OMIM2016_04_17:MTHU003897 C0678274 Alcohol abstinence ALCOHOL ABSTINENCE | Abstinence, Alcohol | Abstinences, Alcohol | Alcohol Abstinence | Alcohol Abstinences | alcohol abstinence MSH2017_2016_08_12:Non-consumption of ALCOHOLIC BEVERAGES. MSH2017_2016_08_12:D064829 C4280500 Bulbous tip of nose Bulbous tip of nose HPO2016_07_04:HP:0005274 C3839323 Acquired angio-oedema due to c1 inhibitor autoantibody Acquired angio-oedema due to C1 inhibitor autoantibody | Acquired angioedema due to C1 inhibitor autoantibody | Acquired angioedema due to C1 inhibitor autoantibody (disorder) SCTSPA_2016_04_30:Angioedema adquirido debido a la presencia de anticuerpos neutralizantes contra el inhibidor de C1 | SNOMEDCT_US_2016_09_01:Acquired angio-oedema due to the presence of neutralising antibodies against C1 inhibitor. | SNOMEDCT_US_2016_09_01:Acquired angioedema due to the presence of neutralizing antibodies against C1 inhibitor. SNOMEDCT_US_2016_09_01:703802001 C4025216 Prominent nasal septum Prominent nasal septum | Prominent septum of nose HPO2016_07_04:HP:0005322|OMIM2016_04_17:MTHU051802 C1836868 Broad ischia Broad ischia HPO2016_07_04:Increased width of the ischium, which forms the lower and back part of the hip bone. [HPO:probinson] HPO2016_07_04:HP:0100865|OMIM2016_04_17:MTHU001360 C4022183 Synostosis of joints Fusion of joints | Synostosis of joints HPO2016_07_04:The abnormal fusion of neighboring bones across a joint. [HPO:probinson] HPO2016_07_04:HP:0100240 C0263905 Atlantoaxial; dislocation AAS - Atlantoaxial subluxation | Atlanto-axial subluxation | Atlantoaxial dislocation | Atlantoaxial subluxation | Atlantoaxial subluxation (disorder) | Subluxation of atlantoaxial joint | Subluxation of atlantoaxial joint (disorder) | atlantoaxial; dislocation | atlantoaxial; subluxation | dislocation; atlantoaxial | subluxation; atlantoaxial HPO2016_07_04:Partial dislocation of the atlantoaxial joint. [HPO:curators] HPO2016_07_04:HP:0003414|OMIM2016_04_17:MTHU005354|OMIM2016_04_17:MTHU011328|OMIM2016_04_17:MTHU033141|SNOMEDCT_US_2016_09_01:263042007|SNOMEDCT_US_2016_09_01:45179004 C1856871 Aarskog-like syndrome AARSKOG-LIKE SYNDROME | Aarskog-Like Syndrome | FACIODIGITOGENITAL SYNDROME, AUTOSOMAL RECESSIVE | Faciodigitogenital Syndrome, Recessive | KUWAIT TYPE FACIODIGITOGENITAL SYNDROME | Kuwait Type Faciodigitogenital Syndrome MSH2017_2016_08_12:C535331|OMIM2016_04_17:227330 C3698541 Ohdo syndrome, maat-kievit-brunner type BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type | Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type (disorder) | OHDO SYNDROME, X-LINKED | OHDOX | Ohdo syndrome, Maat-Kievit-Brunner type | X-linked Ohdo syndrome OMIM2016_04_17:300188|OMIM2016_04_17:300895|SNOMEDCT_US_2016_09_01:699297004 C2750737 Diarrhea 5, with tufting enteropathy, congenital CTE | DIAR5 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | Diarrhea 5, With Tufting Enteropathy, Congenital | ENTEROPATHY, CONGENITAL TUFTING | Enteropathy, Congenital Tufting | INTESTINAL EPITHELIAL CELL DYSPLASIA | Intestinal Epithelial Cell Dysplasia MSH2017_2016_08_12:C567703|OMIM2016_04_17:185535|OMIM2016_04_17:613217 C0239882 Head tremor HEAD TREMOR | Head tremor | Head tremor (finding) | head tremor | head tremors | tremor head HPO2016_07_04:An unintentional, oscillating to-and-fro muscle movement affecting head movement. [HPO:probinson] HPO2016_07_04:HP:0002346|OMIM2016_04_17:MTHU004054 C0877152 Necrotizing gastritis Necrotising gastritis | Necrotizing Gastritis | Necrotizing gastritis C0001432 Adenoma, chromophobe Adenoma, Chromophobe | Adenoma, Chromophobe [Disease/Finding] | Adenomas, Chromophobe | Chromophobe Adenoma | Chromophobe Adenoma of Pituitary Gland | Chromophobe Adenoma of the Pituitary Gland | Chromophobe Adenomas | Chromophobe adenoma | Chromophobe adenoma (morphologic abnormality) | Pituitary Chromophobe Adenoma | Pituitary Gland Chromophobe Adenoma | adenoma chromophobe | adenoma chromophobe pituitary | adenoma, chromophobe, pituitary | chromophobe adenoma | chromophobe adenoma, pituitary | pituitary chromophobe adenoma MSH2017_2016_08_12:A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes. | NCI2016_02D:An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes. MSH2017_2016_08_12:D000238|SNOMEDCT_US_2016_09_01:37039006 C1860789 Leukemia, megakaryoblastic, of down syndrome LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME | Leukemia, Megakaryoblastic, of Down Syndrome MSH2017_2016_08_12:C566025|OMIM2016_04_17:190685 C0162316 Iron deficiency anemia ANAEMIA IRON DEFICIENCY | ANEMIA DEFICIENCY IRON | ANEMIA IRON DEFICIENCY | ANEMIA, IRON DEFICIENCY | Anaemia - iron defic. | Anaemia iron deficiency | Anaemia;iron deficiency | Anemia - iron defic. | Anemia iron deficiency | Anemia, Iron Deficiency | Anemia, Iron-Deficiency | Anemia, Iron-Deficiency [Disease/Finding] | Anemias, Iron Deficiency | Anemias, Iron-Deficiency | Fe deficiency anemia NOS | Ferropenic | Ferropenic anaemia | Ferropenic anemia | IDA - Iron deficiency anaemia | IDA - Iron deficiency anemia | IRON DEFICIENCY ANEMIA | Iron Deficiency Anemia | Iron Deficiency Anemias | Iron def anaemia | Iron def anemia | Iron deficiency anaemia | Iron deficiency anaemia NOS | Iron deficiency anaemia syndrome | Iron deficiency anaemia syndrome (disorder) | Iron deficiency anaemia, NOS | Iron deficiency anaemia, unspecified | Iron deficiency anaemias | Iron deficiency anemia | Iron deficiency anemia (disorder) | Iron deficiency anemia NOS | Iron deficiency anemia NOS (disorder) | Iron deficiency anemia syndrome | Iron deficiency anemia, NOS | Iron deficiency anemia, unspecified | Iron deficiency anemias | Iron-Deficiency Anemia | Iron-Deficiency Anemias | Iron-deficiency anemia | Sideropenic anaemia | Sideropenic anemia | Unspec iron deficiency anaemia | Unspec iron deficiency anemia | Unspecified iron deficiency anaemia | Unspecified iron deficiency anemia | Unspecified iron deficiency anemia (disorder) | anemia; deficiency, iron | anemia; iron deficiency | anemia; sideropenic | deficiency; anemia, iron | fe deficiency anemia | fe defxy anemia | ferropenic anemia | hypoferric anemia | iron deficiency | iron deficiency anaemia | iron deficiency anemia | iron deficiency anemia (diagnosis) | iron deficiency; anemia | iron-deficiency anemia | iron; deficiency, anemia | sideropenic anemia | sideropenic; anemia MSH2017_2016_08_12:Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased. | NCI2016_02D:Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss. HPO2016_07_04:HP:0001891|ICD10CM_2017:D50|ICD10CM_2017:D50.9|ICD9CM_2014:280|ICD9CM_2014:280.9|MSH2017_2016_08_12:D018798|OMIM2016_04_17:MTHU036458|OMIM2016_04_17:MTHU041486|SNOMEDCT_US_2016_09_01:154787005|SNOMEDCT_US_2016_09_01:191125001|SNOMEDCT_US_2016_09_01:191126000|SNOMEDCT_US_2016_09_01:191133000|SNOMEDCT_US_2016_09_01:191137004|SNOMEDCT_US_2016_09_01:234354003|SNOMEDCT_US_2016_09_01:267553005|SNOMEDCT_US_2016_09_01:87522002 C0038558 Gland submandibular tumor Gland Neoplasm, Submandibular | Gland Neoplasms, Submandibular | Neoplasm of Submandibular Gland | Neoplasm of the Submandibular Gland | Neoplasm, Submandibular Gland | Neoplasms, Submandibular Gland | Submandibular Gland Neoplasm | Submandibular Gland Neoplasms | Submandibular Gland Neoplasms [Disease/Finding] | Submandibular Gland Tumor | Tumor of Submandibular Gland | Tumor of submandibular gland | Tumor of submandibular gland (disorder) | Tumor of the Submandibular Gland | Tumour of submandibular gland | gland submandibular tumor | gland submandibular tumors | neoplasm of submandibular gland | neoplasm of submandibular gland (diagnosis) | submandibular gland tumor | submandibular gland tumour MSH2017_2016_08_12:New abnormal growth of tissue in the SUBMANDIBULAR GLAND. | NCI2016_02D:A benign or malignant neoplasm that affects the submandibular gland. MSH2017_2016_08_12:D013365|SNOMEDCT_US_2016_09_01:254464000 C0032249 Plummer vinson syndrome ANEMIA, PLUMMER-VINSON | Brown-Kelly-Paterson syndrome | Brown-Patterson-Kelly syndrome | DYSPHAGIA, SIDEROPENIC | Kelly - Paterson syndrome | Kelly Patterson syndrome | Kelly Syndrome | Kelly's Syndrome | Kelly-Paterson | Kelly-Paterson syndrome | Kelly-Patterson syndrome | Kellys Syndrome | PATERSON-BROWN-KELLY SYNDROME | PLUMMER VINSON SYNDROME | PLUMMER-VINSON SYNDROME | Paterson-Brown-Kelly syndrome | Paterson-Kelly (Plummer-Vinson) syndrome | Paterson-Kelly syndrome | Patterson Brown Kelly Syndrome | Patterson Kelly Syndrome | Patterson Syndrome | Patterson's Syndrome | Patterson-Brown-Kelly Syndrome | Patterson-Kelly Syndrome | Pattersons Syndrome | Plummer - Vinson syndrome | Plummer Vinson Syndrome | Plummer-Vinson | Plummer-Vinson Syndrome | Plummer-Vinson Syndrome [Disease/Finding] | Plummer-Vinson syndr. | Plummer-Vinson syndrome | Plummer-Vinson syndrome (diagnosis) | Plummer-Vinson syndrome (disorder) | Plummer-Vinson-Patterson-Kelly syndrome | Sideropenic dysphagia | Syndrome, Kelly's | Syndrome, Patterson's | Syndrome, Patterson-Brown-Kelly | Syndrome, Patterson-Kelly | Syndrome, Plummer Vinson | Syndrome, Plummer-Vinson | Vinson-Plummer | dysphagia; sideropenic | paterson(-Brown)-Kelly syndrome | paterson-kelly syndrome | plummer vinson anemia | plummer vinson syndrome | plummer-vinson syndrome | sideropenic dysphagia | sideropenic; dysphagia MSH2017_2016_08_12:A syndrome of DYSPHAGIA with IRON-DEFICIENCY ANEMIA that is due to congenital anomalies in the ESOPHAGUS (such as cervical esophageal webs). It is known as Patterson-Kelly syndrome in the United Kingdom. | NCI2016_02D:A syndrome characterized by dysphagia, upper esophageal webs, iron deficiency anemia, and glossitis. | NCI2016_NCI-GLOSS_1602D:A disorder marked by anemia caused by iron deficiency, and a web-like growth of membranes in the throat that makes swallowing difficult. Having Plummer-Vinson syndrome may increase the risk of developing esophageal cancer. ICD10CM_2017:D50.1|MSH2017_2016_08_12:D011004|SNOMEDCT_US_2016_09_01:154787005|SNOMEDCT_US_2016_09_01:191129007|SNOMEDCT_US_2016_09_01:267553005|SNOMEDCT_US_2016_09_01:80126007 C0267048 Glossoptosis Glossoptoses | Glossoptosis | Glossoptosis (disorder) | Glossoptosis [Disease/Finding] | Lingual retraction | Retraction of the tongue | glossoptosis | glossoptosis (diagnosis) HPO2016_07_04:Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. [HPO:probinson, pmid:19125428] | MSH2017_2016_08_12:Posterior displacement of the TONGUE toward the PHARYNX. It is often a feature in syndromes such as in PIERRE ROBIN SYNDROME and DOWN SYNDROME and associated with AIRWAY OBSTRUCTION during sleep (OBSTRUCTIVE SLEEP APNEAS). HPO2016_07_04:HP:0000162|ICD10CM_2017:K14.8|MSH2017_2016_08_12:D065710|OMIM2016_04_17:MTHU036550|SNOMEDCT_US_2016_09_01:3639002 C3551052 Night blindness, stationary Night blindness, stationary HPO2016_07_04:HP:0007642|OMIM2016_04_17:MTHU038320 C4022848 Eeg with centrotemporal focal spike waves EEG with centrotemporal focal spike waves HPO2016_07_04:EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. [HPO:probinson] HPO2016_07_04:HP:0012557 C4280508 Foot crease Foot crease HPO2016_07_04:HP:0004681 C4029297 Ergotamine induced headache without intractable headache ergotamine induced headache without intractable headache | ergotamine induced headache without intractable headache (diagnosis) | vasoconstrictor induced headache - ergotamine, without intractable headache C0014358 Enterocolitis, pseudomembranous ENTEROCOLITIS PSEUDOMEMBRANOUS | Enterocolitis pseudomembranous | Enterocolitis, Pseudomembranous | Enterocolitis, Pseudomembranous [Disease/Finding] | PSEUDOMEMBRANOUS ENTEROCOLITIS | Pseudomembramous enterocolitis | Pseudomembranous Enterocolitis | Pseudomembranous enterocolitis | Pseudomembranous enterocolitis (disorder) | enterocolitis pseudomembranous | pseudomembranous enterocolitis MSH2017_2016_08_12:An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization. MSH2017_2016_08_12:D004761|SNOMEDCT_US_2016_09_01:397683000|SNOMEDCT_US_2016_09_01:51180003 C1511197 Bladder papillary transitional cell neoplasm Bladder Papillary Transitional Cell Neoplasm | Bladder Papillary Urothelial Neoplasm | Urinary Bladder Papillary Transitional Cell Neoplasm | Urinary Bladder Papillary Urothelial Neoplasm C0395887 Tympanosclerosis SCLEROSIS, TYMPANIC | TS - Tympanosclerosis | TYMPANOSCLEROSIS | Tympanoscleroses | Tympanosclerosis | Tympanosclerosis (disorder) | Tympanosclerosis NOS | Tympanosclerosis NOS (disorder) | Tympanosclerosis syndrome | Tympanosclerosis, NOS | Tympanosclerosis, unspecified as to involvement | Tympanosclerosis, unspecified ear | Unspecified tympanosclerosis | Unspecified tympanosclerosis (disorder) | tympanosclerosis | tympanosclerosis (diagnosis) ICD10CM_2017:H74.0|ICD10CM_2017:H74.09|ICD9CM_2014:385.0|ICD9CM_2014:385.00|MSH2017_2016_08_12:D063371|SNOMEDCT_US_2016_09_01:155253008|SNOMEDCT_US_2016_09_01:194328009|SNOMEDCT_US_2016_09_01:194329001|SNOMEDCT_US_2016_09_01:23606001|SNOMEDCT_US_2016_09_01:267768008 C0311334 Generalized convulsive seizure Convulsive Epilepsies, Generalized | Convulsive Epilepsy, Generalized | Convulsive Generalized Seizure Disorder | Convulsive Seizure Disorder, Generalized | Epilepsies, Generalized Convulsive | Epilepsy, Generalized Convulsive | GENERALIZED CONVULSIVE SEIZURE | GENERALIZED-ONSET SEIZURES | General.convuls.epilepsy NOS | Generalised convulsive epilep. | Generalised convulsive epilepsy | Generalised convulsive epilepsy NOS | Generalised-onset seizures | Generalized Convulsive Epilepsies | Generalized Convulsive Epilepsy | Generalized Onset Seizure Disorder | Generalized Seizure Disorder, Convulsive | Generalized convulsive epilep. | Generalized convulsive epilepsy | Generalized convulsive epilepsy (disorder) | Generalized convulsive epilepsy NOS | Generalized convulsive epilepsy NOS (disorder) | Generalized convulsive epilepsy [dup] (disorder) | Generalized convulsive epilepsy, NOS | Generalized-onset seizures | Generalized-onset seizures (disorder) | Generalized-onset seizures, NOS | Seizure Disorder, Convulsive, Generalized | Seizure Disorder, Generalized Onset | Seizure Disorder, Generalized, Convulsive | epilepsy generalized convulsive | epilepsy; generalized, convulsive | generalized convulsive seizure | generalized convulsive seizure (diagnosis) | generalized; epileptic, convulsive ICD9CM_2014:345.1|MSH2017_2016_08_12:D004829|SNOMEDCT_US_2016_09_01:192988000|SNOMEDCT_US_2016_09_01:192997001|SNOMEDCT_US_2016_09_01:4619009|SNOMEDCT_US_2016_09_01:65120008 C2243090 Erosive gastropathy Erosive gastropathy | Erosive gastropathy (disorder) SNOMEDCT_US_2016_09_01:413216002 C4012790 Ataxia-telangiectasia-like disorder 1 ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 | ATLD1 OMIM2016_04_17:600814|OMIM2016_04_17:604391 C0263492 Hair ingrown Ingrowing hair | Ingrown hair | Ingrown;hair | Pili incarnati | Pili incarnati (disorder) | hair ingrown | hair; ingrowing | hairs ingrow | hairs ingrowing | hairs ingrown | incarnati; pili | ingrowing hair | ingrowing; hair | ingrown hair | pili; incarnati SNOMEDCT_US_2016_09_01:156412005|SNOMEDCT_US_2016_09_01:267864001|SNOMEDCT_US_2016_09_01:9115004 C2931253 Alport syndrome, dominant type Alport syndrome, dominant type | Renal failure, and sensorineural hearing loss MSH2017_2016_08_12:C536586 C1300120 Seizures complicating intracranial haemorrhage in the newborn Seizures complicating intracranial haemorrhage in the newborn | Seizures complicating intracranial hemorrhage in the newborn | Seizures complicating intracranial hemorrhage in the newborn (disorder) SNOMEDCT_US_2016_09_01:371107004 C0271197 Scotoma, paracentral Paracentral Scotoma | Paracentral Scotomas | Paracentral scotoma | Paracentral scotoma (finding) | Scotoma, Paracentral | Scotoma, paracentral | Scotomas, Paracentral | paracentral scotoma | paracentral scotoma (diagnosis) | paracentral scotoma (physical finding) HPO2016_07_04:HP:0030528|MSH2017_2016_08_12:D012607|OMIM2016_04_17:MTHU051311|SNOMEDCT_US_2016_09_01:193668006|SNOMEDCT_US_2016_09_01:64418005 C1861455 Stomatocytosis i OHS | OHST | OVERHYDRATED HEREDITARY STOMATOCYTOSIS | Overhydrated Hereditary Stomatocytosis | POTASSIUM-SODIUM DISORDER OF ERYTHROCYTE | Potassium-Sodium Disorder Of Erythrocyte | STOMATOCYTOSIS I | Stomatocytosis I MSH2017_2016_08_12:C566111|OMIM2016_04_17:180297|OMIM2016_04_17:185000 C0155000 Transient refractive change Transient refractive change | Transient refractive change (disorder) | transient refractive change | transient refractive change (diagnosis) ICD9CM_2014:367.81|SNOMEDCT_US_2016_09_01:81519008 C0740345 Germ cell cancer Cancer, Germ Cell | Cancers, Germ Cell | Germ Cell Cancer | Germ Cell Cancers | Germ cell cancer | Germ cell cancer NOS | cancer cells germ | germ cell cancer | germ cell cancers MSH2017_2016_08_12:D009373 C0338451 Frontotemporal dementia Complex, Disinhibition-Dementia-Parkinsonism-Amyotrophy | Complex, Disinhibition-Dementia-Parkinsonism-Amytrophy | Complices, Disinhibition-Dementia-Parkinsonism-Amyotrophy | Complices, Disinhibition-Dementia-Parkinsonism-Amytrophy | DDPAC | DEMENTIA, FRONTOTEMPORAL | DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM | DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX | Dementia, Frontotemporal | Dementia, Frontotemporal Lobe | Dementia, Frontotemporal Lobe (FLDEM) | Dementia, Frontotemporal, with Parkinsonism | Dementia, GRN-Related Frontotemporal | Dementia, Hereditary Dysphasic Disinhibition | Dementia, Ubiquitin-Positive Frontotemporal | Dementias, Frontotemporal | Dementias, Frontotemporal Lobe | Dementias, Frontotemporal Lobe (FLDEM) | Dementias, GRN-Related Frontotemporal | Dementias, Ubiquitin-Positive Frontotemporal | Disease, Familial Pick's | Disease, Wilhelmsen-Lynch | Diseases, Familial Pick's | Diseases, Wilhelmsen-Lynch | Disinhibition Dementia Parkinsonism Amyotrophy Complex | Disinhibition Dementia Parkinsonism Amytrophy Complex | Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex | Disinhibition-Dementia-Parkinsonism-Amyotrophy Complices | Disinhibition-Dementia-Parkinsonism-Amytrophy Complex | Disinhibition-Dementia-Parkinsonism-Amytrophy Complices | FLDEM | FRONTOTEMPORAL DEMENTIA | FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM | FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS | FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS | FRONTOTEMPORAL LOBE DEMENTIA | FTD | FTD-GRN | FTD-PGRN | FTDP-17 | FTDP17 | FTLD WITH TAU INCLUSIONS | FTLD with TDP 43 Pathology | FTLD with TDP-43 Pathology | FTLD-17 GRN | FTLD-TDP | Familial Pick Disease | Familial Pick's Disease | Familial Pick's Diseases | Familial Picks Disease | Frontotemporal Dementia | Frontotemporal Dementia [Disease/Finding] | Frontotemporal Dementia with Parkinsonism | Frontotemporal Dementia with Parkinsonism 17 | Frontotemporal Dementia with Parkinsonism-17 | Frontotemporal Dementia, GRN-Related | Frontotemporal Dementia, Ubiquitin Positive | Frontotemporal Dementia, Ubiquitin-Positive | Frontotemporal Dementias | Frontotemporal Dementias, GRN-Related | Frontotemporal Dementias, Ubiquitin-Positive | Frontotemporal Lobar Degeneration With Ubiquitin Positive Inclusions | Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions | Frontotemporal Lobe Dementia | Frontotemporal Lobe Dementia (FLDEM) | Frontotemporal Lobe Dementias | Frontotemporal Lobe Dementias (FLDEM) | Frontotemporal dementia | Frontotemporal dementia (disorder) | GRN Related Frontotemporal Dementia | GRN-Related Frontotemporal Dementia | GRN-Related Frontotemporal Dementias | HDDD1 | HDDD2 | Hereditary Dysphasic Disinhibition Dementia | Lobe Dementia, Frontotemporal | Lobe Dementias, Frontotemporal | MSTD | MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIA | Multiple System Tauopathy with Presenile Dementia | Pick's Disease, Familial | Pick's Diseases, Familial | Ubiquitin-Positive Frontotemporal Dementia | Ubiquitin-Positive Frontotemporal Dementias | WILHELMSEN-LYNCH DISEASE | WLD | Wilhelmsen Lynch Disease | Wilhelmsen-Lynch Disease | Wilhelmsen-Lynch Diseases | dementia frontotemporal | frontotemporal dementia | frontotemporal dementia (diagnosis) HPO2016_07_04:A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. [HPO:probinson, pmid:24966676] | MSH2017_2016_08_12:The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated with disinhibition, apathy, and lack of insight. | NCI2016_02D:A syndrome caused by progressive degeneration of the frontal or temporal lobes of the brain. It is manifested with personality changes and deterioration of the language skills. HPO2016_07_04:HP:0002145|ICD10CM_2017:G31.0|ICD9CM_2014:331.1|MSH2017_2016_08_12:D057180|OMIM2016_04_17:104311|OMIM2016_04_17:138945|OMIM2016_04_17:157140|OMIM2016_04_17:600274|OMIM2016_04_17:MTHU003256|SNOMEDCT_US_2016_09_01:230270009 C0279608 Wilm's tumor, epithelial predominant Epithelial Predominant Kidney Adenosarcoma | Epithelial Predominant Kidney Wilms Tumor | Epithelial Predominant Nephroblastoma | Epithelial Predominant Renal Adenosarcoma | Epithelial Predominant Renal Wilm's Tumor | Epithelial Predominant Renal Wilms Tumor | Epithelial Predominant Renal Wilms' Tumor | Wilm's tumor, epithelial predominant | Wilms tumor, epithelial predominant | Wilms' tumor, epithelial predominant | epithelial predominant Wilm's tumor | epithelial predominant Wilms tumor | epithelial predominant Wilms' tumor NCI2016_02D:Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes. C4015436 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ACPHD | ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS OMIM2016_04_17:616192 C1850626 Nathalie syndrome Deafness with cataract and skeletal anomaly syndrome | Deafness with cataract and skeletal anomaly syndrome (disorder) | NATHALIE SYNDROME | Nathalie syndrome SNOMEDCT_US_2016_09_01:Nathalie syndrome has characteristics of deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother. MSH2017_2016_08_12:C538342|OMIM2016_04_17:255990|SNOMEDCT_US_2016_09_01:716170005 C0153585 Malig neop of other and unspecified female genital organs Malig neop of other and unspecified female genital organs | Malig neop oth female genital | Malignant neoplasm of other and unspecified female genital organs | Malignant neoplasm of other and unspecified female genital organs (disorder) ICD10CM_2017:C57|ICD9CM_2014:184|SNOMEDCT_US_2016_09_01:188207007 C0025476 Mesial drift of teeth Mesial Drift of Teeth | Mesial Migration of Teeth | Mesial Movement of Teeth | Mesial Movement of Teeth [Disease/Finding] | Mesial movement of teeth | Mesial movement of teeth (function) | Mesial movement of teeth, function | Mesial movement of teeth, function (observable entity) | Teeth Mesial Drift | Teeth Mesial Migration | Teeth Mesial Movement MSH2017_2016_08_12:Migration of the teeth toward the midline or forward in the DENTAL ARCH. (From Boucher's Clinical Dental Terminology, 4th ed) MSH2017_2016_08_12:D008644|SNOMEDCT_US_2016_09_01:25684004 C0454587 Mutism after head trauma Mutism after head trauma | Post-traumatic mutism | Post-traumatic mutism (disorder) SNOMEDCT_US_2016_09_01:229675006 C0014038 Encephalitis Brain Inflammation | Brain Inflammations | Brain inflammation | ENCEPHALITIS | Encephalitis | Encephalitis (disorder) | Encephalitis NOS | Encephalitis NOS (disorder) | Encephalitis [Disease/Finding] | Encephalitis, NOS | Inflammation, Brain | brain inflammation | brain; inflammation | cerebral; inflammation | encephalitis | encephalitis (diagnosis) | inflammation of the brain | inflammation; brain | inflammation; cerebral CSP2006:inflammation of the brain due to infection, autoimmune processes, toxins, and other conditions; viral infections are a relatively frequent cause of this condition. | MEDLINEPLUS_20151021:Encephalitis is an inflammation of the brain. Usually the cause is a viral infection, but bacteria can also cause it. It can be mild or severe. Most cases are mild. You may have flu-like symptoms. With a mild case, you may just need rest, plenty of fluids, and a pain reliever.
Severe cases need immediate treatment. Symptoms of severe cases include
In babies, additional symptoms may include constant crying, poor feeding, body stiffness, and bulging in the soft spots of the skull.
Severe cases may require a stay in the hospital. Treatments include oral and intravenous medicines to reduce inflammation and treat infection. Patients with breathing difficulties may need artificial respiration. Some people may need physical, speech, and occupational therapy once the illness is under control.
NIH: National Institute of Neurological Disorders and Stroke
| MSH2017_2016_08_12:Inflammation of the BRAIN due to infection, autoimmune processes, toxins, and other conditions. Viral infections (see ENCEPHALITIS, VIRAL) are a relatively frequent cause of this condition. | NCI2016_02D:An inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. | NCI2016_NICHD_1602D:Inflammation of the brain. HPO2016_07_04:HP:0002383|MSH2017_2016_08_12:D004660|OMIM2016_04_17:MTHU007426|SNOMEDCT_US_2016_09_01:192736002|SNOMEDCT_US_2016_09_01:267578009|SNOMEDCT_US_2016_09_01:267682000|SNOMEDCT_US_2016_09_01:45170000 C0858633 Nasal discharge watery excessive Nasal discharge watery excessive C2363129 Benign rolandic epilepsy BCECTS | BECTS | BENIGN EPILEPSY OF CHILDHOOD WITH CENTROTEMPORAL SPIKES | BENIGN ROLANDIC EPILEPSY | BRE | Benign Childhood Epilepsy With Centro Temporal Spikes | Benign Childhood Epilepsy With Centro-Temporal Spikes | Benign Childhood Epilepsy With Centrotemporal Spikes | Benign Childhood Epilepsy with Centrotemporal Spikes | Benign Epilepsy Of Childhood With Centrotemporal Spikes | Benign Epilepsy With Centrotemporal Spikes | Benign Rolandic Epilepsy | Benign Rolandic Epilepsy of Childhood | Benign Rolandic epilepsy | Benign Rolandic epilepsy (disorder) | Benign childhood epilepsy with centrotemporal spike | Benign childhood epilepsy with centrotemporal spike (disorder) | Benign rolandic epilepsy | CENTRALOPATHIC EPILEPSY | CENTROTEMPORAL EPILEPSY | Centralopathic Epilepsies | Centralopathic Epilepsy | Centralopathic epilepsy | Centrotemporal Epilepsies | Centrotemporal Epilepsy | Centrotemporal epilepsy | ECT | Epilepsies, Centralopathic | Epilepsies, Centrotemporal | Epilepsy, Benign Rolandic | Epilepsy, Centralopathic | Epilepsy, Centrotemporal | Rolandic Epilepsy, Benign | TEMPORAL-CENTRAL FOCAL EPILEPSY | Temporal-Central Focal Epilepsy | Temporal-central focal epilepsy | benign rolandic epilepsy NCI2016_02D:A neurological disorder of childhood characterized by partial seizures consisting of twitching, numbness, or tingling of the face or tongue that often progress to secondary generalized seizures. | NCI2016_NICHD_1602D:A neurological disorder of childhood characterized by partial seizures consisting of twitching, numbness, or tingling of the face or tongue that often progress to secondary generalized seizures. MSH2017_2016_08_12:D019305|OMIM2016_04_17:117100|OMIM2016_04_17:245570|SNOMEDCT_US_2016_09_01:193024005|SNOMEDCT_US_2016_09_01:44145005 C0235440 Lumbar cushion LUMBAR CUSHION | Lumbar cushion | Lumbar cushion (edema) C3160917 Bladder pain syndrome Bladder Pain Syndrome | Bladder pain syndrome C0010678 Cysticercosis CYSTICERCOSIS | Cystercercosis | Cysticerciasis | Cysticercoses | Cysticercosis | Cysticercosis (disorder) | Cysticercosis [Disease/Finding] | Cysticercosis, unspecified | INFECTIONS BY TAPEWORM LARVAE | Infection by tapeworm larvae | Infection by tapeworm larvae (disorder) | Infection caused by tapeworm larvae | Infection caused by tapeworm larvae (disorder) | Larval taeniasis | Larval tapeworm infection | Larval teniasis | [X]Cysticercosis, unspecified | [X]Cysticercosis, unspecified (disorder) | cysticercoses | cysticercosis | cysticercosis (diagnosis) MSH2017_2016_08_12:Infection with CYSTICERCUS, the larval form of the various tapeworms of the genus Taenia (usually T. solium in man). In humans they penetrate the intestinal wall and invade subcutaneous tissue, brain, eye, muscle, heart, liver, lung, and peritoneum. Brain involvement results in NEUROCYSTICERCOSIS. | NCI2016_02D:A parasitic infection caused by the larval form of Taenia solium. It is a disseminated infection affecting the central nervous system, subcutaneous tissues, lungs, heart and liver. The most serious complications result from infection of the brain parenchyma. Patients may develop seizures, hydrocephalus, encephalopathy and meningoencephalitis. ICD10CM_2017:B69|ICD10CM_2017:B69.9|ICD9CM_2014:123.1|MSH2017_2016_08_12:D003551|SNOMEDCT_US_2016_09_01:105684008|SNOMEDCT_US_2016_09_01:187527007|SNOMEDCT_US_2016_09_01:59051007 C1839564 Jensen syndrome JENSEN SYNDROME | Jensen syndrome | Nerve deafness optic nerve atrophy, and dementia | OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA | Opticoacoustic Nerve Atrophy With Dementia | Opticoacustic nerve atrophy with dementia | Syndrome of opticoacoustic nerve atrophy with dementia MSH2017_2016_08_12:C537568|OMIM2016_04_17:300356|OMIM2016_04_17:311150 C0426886 Tapering fingers (finding) Distally tapering fingers | Tapered finger | Tapered fingers | Tapered fingertips | Tapering fingers | Tapering fingers (finding) | Tapering of the fingers | tapering fingers | tapering fingers (physical finding) HPO2016_07_04:The gradual reduction in girth of the digit from proximal to distal. [pmid:19125433] HPO2016_07_04:HP:0001182|OMIM2016_04_17:MTHU000074|OMIM2016_04_17:MTHU004601|OMIM2016_04_17:MTHU030801|OMIM2016_04_17:MTHU037292|SNOMEDCT_US_2016_09_01:249768009 C0008449 Congenital anomaly of cartilage Abnormal development of cartilage | Abnormal development of cartilage, NOS | CHONDRODYSTROPHY | Cartilage Development Disorder | Cartilage deformed | Cartilage development disorder | Cartilage development disorder NOS | Chondrodystrophy | Chondrodystrophy NOS | Chondrodystrophy, NOS | Congenital anomaly of cartilage | Congenital anomaly of cartilage (diagnosis) | Congenital anomaly of cartilage (disorder) | Congenital anomaly of cartilage, NOS | DISORDER CARTILAGE DEVELOPMENT (NOS) | Disorder cartilage development (NOS) | Unspecified anomaly of cartilage | Unspecified anomaly of cartilage (disorder) | Unspecified anomaly-cartilage | chondrodystrophies | chondrodystrophy | congenital connective tissue disorder anomaly of cartilage CSP2006:morbid condition characterized by abnormal development of cartilage. ICD10CM_2017:Q78.9|ICD9CM_2014:756.4|SNOMEDCT_US_2016_09_01:205539001|SNOMEDCT_US_2016_09_01:268350005|SNOMEDCT_US_2016_09_01:67988000 C0012359 Pathological dilatation DILATATION | Dilatation | Dilatation (morphologic abnormality) | Dilatation, NOS | Dilatation, Pathologic | Dilatation, Pathologic [Disease/Finding] | Dilatation, Pathological | Dilatations | Dilatations, Pathologic | Dilatations, Pathological | Dilation | Distension | Distension, NOS | Distention | Distention, NOS | ECTASIA | Ectasia | Pathologic Dilatation | Pathologic Dilatations | Pathological Dilatation | Pathological Dilatations | abnormal dilation | dilation | ectasia | ectasias | pathologic dilatation MSH2017_2016_08_12:The condition of an anatomical structure's being dilated beyond normal dimensions. | NCI2016_02D:A pathophysiological process characterized by the dilatation or expansion of a hollow, tubular tissue or organ. | NCI2016_CDISC_1602D:Expansion of substructures (such as ducts, glands, sinuses, alveoli) within the tissue. MSH2017_2016_08_12:D004108|SNOMEDCT_US_2016_09_01:25322007 C0154071 Carcinoma in situ of bronchus and lung Ca-in-situ bronchus and lung | Ca-in-situ bronchus/lung NOS | Carcinoma in situ of bronchus and lung | Carcinoma in situ of bronchus and lung (disorder) | Carcinoma in situ of bronchus or lung NOS | Carcinoma in situ of bronchus or lung NOS (disorder) ICD10CM_2017:D02.2|ICD9CM_2014:231.2|SNOMEDCT_US_2016_09_01:189262006|SNOMEDCT_US_2016_09_01:189268005 C0152013 Adenocarcinoma of lung (disorder) ADENOCARCINOMA LUNG | ADENOCARCINOMA OF LUNG | Adenocarcinoma lung | Adenocarcinoma of Lung | Adenocarcinoma of lung | Adenocarcinoma of lung (disorder) | Adenocarcinoma of the Lung | LUNG CANCER ADENOCARCINOMA | LUNG CANCER, ADENOCARCINOMA | LUNG, ADENOCARCINOMA | Lung Adenocarcinoma | Lung adenocarcinoma | Lung adenocarcinoma NOS | Pulmonary adenocarcinoma | adenocarcinoma cancer lung | adenocarcinoma cancer lungs | adenocarcinoma lung | adenocarcinoma lung cancer | adenocarcinoma lungs | adenocarcinoma of lung | adenocarcinoma of lung (diagnosis) | adenocarcinoma of the lung | adenocarcinomas lung | lung adenocarcinoma | lung cancer adenocarcinoma | lung cancer, adenocarcinoma | lung, adenocarcinoma of the | non-oat cell adenocarcinoma of the lung | of lung adenocarcinoma NCI2016_02D:A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor. HPO2016_07_04:HP:0030078|MSH2017_2016_08_12:C538231|OMIM2016_04_17:211980|OMIM2016_04_17:MTHU017417|SNOMEDCT_US_2016_09_01:254626006 C1519371 Small intestinal eatl Small Intestinal EATL | Small Intestinal Enteropathy-Associated T-Cell Lymphoma | Small Intestinal Enteropathy-Type T-Cell Lymphoma NCI2016_02D:An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate. C0429458 Vaginal pool Vaginal pool | Vaginal pool (finding) SNOMEDCT_US_2016_09_01:251654003 C1290846 Neurologic disorder of eye movements Neurologic disorder of eye movements | Neurologic disorder of eye movements (disorder) SCTSPA_2016_04_30:Trastornos caracterizados por anomal铆as en los movimientos oculares como consecuencia de una disfunci贸n cerebral, de un nervio craneal o de la uni贸n neuromuscular | SNOMEDCT_US_2016_09_01:Disorders characterized by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction SNOMEDCT_US_2016_09_01:127346000 C4280424 Small condylar head of mandible Small condylar head of mandible HPO2016_07_04:HP:0007628 C1096429 Uterine cervical motion tenderness Uterine cervical motion tenderness C1299239 Cancer of subglottis Cancer of Subglottis | Cancer of the Subglottis | Carcinoma of Subglottis | Carcinoma of subglottis | Carcinoma of subglottis (diagnosis) | Carcinoma of subglottis (disorder) | Carcinoma of the Subglottis | Subglottic Cancer | Subglottic Carcinoma | Subglottis Carcinoma | malignant subglottis neoplasm carcinoma NCI2016_02D:A carcinoma of the larynx that arises from the subglottic area. SNOMEDCT_US_2016_09_01:372104008 C0008521 Choroid diseases Choroid Disease | Choroid Diseases | Choroid Diseases [Disease/Finding] | Choroid Disorder | Choroid disease | Choroid disorder NOS | Choroid disorder NOS (disorder) | Choroid disorders | Choroid--Diseases | Choroidal Disease | Choroidal Diseases | Choroidal disorder | Disease, Choroid | Disease, Choroidal | Diseases, Choroid | Diseases, Choroidal | Disorder of choroid, unspecified | Unspecified disorder of choroid | choroid disorder | choroid disorder (diagnosis) | choroid; disorder | choroidopathy | disease (or disorder); choroid MSH2017_2016_08_12:Disorders of the choroid including hereditary choroidal diseases, neoplasms, and other abnormalities of the vascular layer of the uvea. | NCI2016_02D:A non-neoplastic or neoplastic disorder that affects the choroid. Representative examples include choroiditis, hemangioma, and melanoma. HPO2016_07_04:HP:0000610|ICD10CM_2017:H31.9|ICD9CM_2014:363.9|MSH2017_2016_08_12:D015862|SNOMEDCT_US_2016_09_01:193431000|SNOMEDCT_US_2016_09_01:193480005 C1335658 Radiation-induced intracranial meningioma Radiation-Induced Intracranial Meningioma NCI2016_02D:A meningioma that arises within the cranial cavity and results from exposure to radiation. C3150215 Chromosome 6q24-q25 deletion syndrome CHROMOSOME 6q24-q25 DELETION SYNDROME OMIM2016_04_17:612863 C0549472 Pneumonia, cholesterol CHOLESTEROL PNEUMONIA | Cholesterol pneumonia | Cholesterol pneumonia (diagnosis) | Cholesterol pneumonia (disorder) | Familiaere Cholesterin-Pneumonie | Pneumonia, cholesterol | cholesterol; pneumonia | pneumonia cholesterol | pneumonia; cholesterol MSH2017_2016_08_12:C535937|OMIM2016_04_17:215030|SNOMEDCT_US_2016_09_01:233728004|SNOMEDCT_US_2016_09_01:37629004 C0085660 Aseptic necrosis ASEPTIC NECROSIS | Aseptic Necrosis | Aseptic necrosis | Aseptic necrosis (morphologic abnormality) | Avascular necrosis | Ischemic bone necrosis | Necrosis, aseptic | Necrosis;aseptic | aseptic necrosis | aseptic necrosis (diagnosis) HPO2016_07_04:A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. [HPO:sdoelken] HPO2016_07_04:HP:0010885|SNOMEDCT_US_2016_09_01:34686004|SNOMEDCT_US_2016_09_01:72756009 C0013928 Fat embolism EMBOLISM, FAT | Embolism, Fat | Embolism, Fat [Disease/Finding] | Embolisms, Fat | Embolus, fat | FAT EMBOLISM | Fat Embolism | Fat Embolisms | Fat emboli | Fat embolism | Fat embolism (disorder) | Fat embolus | Fat embolus (morphologic abnormality) | embolis fat | embolism fat | embolism; fat | emboly fat | fat emboli | fat embolism | fat embolism (diagnosis) | fat embolus | fat; embolism MSH2017_2016_08_12:Blocking of a blood vessel by fat deposits in the circulation. It is often seen after fractures of large bones or after administration of CORTICOSTEROIDS. MSH2017_2016_08_12:D004620|SNOMEDCT_US_2016_09_01:157662002|SNOMEDCT_US_2016_09_01:17289003|SNOMEDCT_US_2016_09_01:212372004|SNOMEDCT_US_2016_09_01:269404003 C2677535 Alopecia, neurologic defects, and endocrinopathy syndrome ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME | ANE SYNDROME | ANE Syndrome | ANES | Alopecia, Neurologic Defects, and Endocrinopathy Syndrome MSH2017_2016_08_12:C567425|OMIM2016_04_17:612079 C0272204 Progressive systemic mastocytosis Progressive systemic mastocytosis | Progressive systemic mastocytosis (disorder) SNOMEDCT_US_2016_09_01:111586003 C1313885 Hereditary edema of legs nos Hereditary edema of legs | Hereditary edema of legs (disorder) | Hereditary edema of legs NOS | Hereditary edema of legs NOS (disorder) | Hereditary edema of legs [dup] (disorder) | Hereditary oedema of legs | Hereditary oedema of legs NOS | Hereditary trophedema | Hereditary trophedema (disorder) | Hereditary trophoedema | Hereditary trophoedeme ICD9CM_2014:757.0|SNOMEDCT_US_2016_09_01:205542007|SNOMEDCT_US_2016_09_01:205543002|SNOMEDCT_US_2016_09_01:205546005|SNOMEDCT_US_2016_09_01:75127007 C2677328 Brain hypomyelination Brain hypomyelination | Cerebral hypomyelination | Hypomyelination of the brain HPO2016_07_04:Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. [HPO:probinson] HPO2016_07_04:HP:0006808|OMIM2016_04_17:MTHU021429 C1854449 Neuropathy, hereditary motor and sensory, russe type CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4G | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4G | CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G | CMT4G | Charcot-Marie-Tooth Neuropathy, Type 4g | Charcot-Marie-Tooth disease type 4G | Charcot-Marie-Tooth disease type 4G (disorder) | Charcot-Marie-Tooth disease, autosomal recessive, type 4g | Charcot-Marie-Tooth disease, type 4g | Cmt4g | HEREDITARY MOTOR AND SENSORY NEUROPATHY, RUSSE TYPE | HMSNR | Hereditary motor and sensory neuropathy Russe type | Hereditary motor and sensory neuropathy, Russe type | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE | Neuropathy, hereditary motor and sensory, Russe type SNOMEDCT_US_2016_09_01:Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy. Onset occurs between 8 and 16 years of age with distal lower limb weakness, followed by distal upper limb involvement with a more variable age of onset of between 10 and 43 years. Sensory loss is also a prominent feature. The disease-causing gene has not yet been identified but linkage analysis and recombination mapping have led to identification of a small interval on 10q23.2. Transmitted in an autosomal recessive manner. MSH2017_2016_08_12:C535813|OMIM2016_04_17:142600|OMIM2016_04_17:605285|SNOMEDCT_US_2016_09_01:715799004 C1856399 Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO | GSSDE | Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to MSH2017_2016_08_12:C565545|OMIM2016_04_17:231900|OMIM2016_04_17:601002 C1832602 Episodes of ventricular tachycardia Episodes of ventricular tachycardia HPO2016_07_04:HP:0005141|OMIM2016_04_17:MTHU006086 C0042109 Urticaria (Urticaria NOS) or (hives) | (Urticaria NOS) or (hives) (disorder) | HIVES | Hive | Hives | Hives NOS | RASH URTICARIAL | Rash urticarial | URTICARIA | Unspecified urticaria | Urticaria | Urticaria (disorder) | Urticaria (morphologic abnormality) | Urticaria NOS | Urticaria NOS (disorder) | Urticaria [Disease/Finding] | Urticaria, unspecified | Urticarial | Urticarial rash | Urticarias | Urticated rash | Urtication | hive | hived | hives | hiving | nettle rash | nettles rash | rash nettle | urticaria | urticaria (diagnosis) | urticaria nos | urticarial | urticarial rash | urticarias | welt CSP2006:usually transient vascular reaction involving the upper dermis, representing local edema caused by dilation and increased permeability of the capilliaries and the development of wheals. | HPO2016_07_04:Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. [HPO:probinson] | MEDLINEPLUS_20151021:Hives are red and sometimes itchy bumps on your skin. An allergic reaction to a drug or food usually causes them. Allergic reactions cause your body to release chemicals that can make your skin swell up in hives. People who have other allergies are more likely to get hives than other people. Other causes include infections and stress.
Hives are very common. They usually go away on their own, but if you have a serious case, you might need medicine or a shot. In rare cases, hives can cause a dangerous swelling in your airways, making it hard to breathe - which is a medical emergency.
| MSH2017_2016_08_12:A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress. | NCI2016_02D:A transient, itchy skin eruption characterized by wheals with pale interiors and red margins. | NCI2016_CTCAE_1602D:A disorder characterized by an itchy skin eruption characterized by wheals with pale interiors and well-defined red margins. | NCI2016_FDA_1602D:Urticaria. | NCI2016_NCI-GLOSS_1602D:Itchy, raised red areas on the skin. Urticaria are caused by a reaction to certain foods, drugs, infections, or emotional stress. | NCI2016_NICHD_1602D:A transient, itchy skin eruption characterized by wheals with pale interiors and red margins. | SNOMEDCT_US_2016_09_01:A raised, erythematous papule or cutaneous plaque, usually representing short-lived dermal edema HPO2016_07_04:HP:0001025|ICD10CM_2017:L50|ICD10CM_2017:L50.9|ICD9CM_2014:708|ICD9CM_2014:708.9|MSH2017_2016_08_12:D014581|OMIM2016_04_17:MTHU037793|OMIM2016_04_17:MTHU044964|SNOMEDCT_US_2016_09_01:126485001|SNOMEDCT_US_2016_09_01:156427005|SNOMEDCT_US_2016_09_01:157756002|SNOMEDCT_US_2016_09_01:201272008|SNOMEDCT_US_2016_09_01:247472004|SNOMEDCT_US_2016_09_01:267818006|SNOMEDCT_US_2016_09_01:267868003|SNOMEDCT_US_2016_09_01:269433002|SNOMEDCT_US_2016_09_01:64305001 C0686353 Muscular dystrophies, limb-girdle Leyden-Mobius muscular dystrophy | Limb Girdle Muscular Dystrophies | Limb Girdle Muscular Dystrophy | Limb-Girdle Muscular Dystrophies | Limb-Girdle Muscular Dystrophy | Limb-Girdle Syndrome | Limb-girdle muscular dystrophy | Limb-girdle muscular dystrophy (disorder) | MUSCULAR DYSTROPHY, LIMB GIRDLE TYPE | Muscular Dystrophies, Limb Girdle | Muscular Dystrophies, Limb-Girdle | Muscular Dystrophies, Limb-Girdle [Disease/Finding] | Muscular Dystrophy, Limb Girdle | Muscular Dystrophy, Limb-Girdle | Muscular dystrophy, limb-girdle | Myopathic Limb-Girdle Syndrome | Progressive muscular dystrophy, limb girdle | dystrophies girdle limb muscular | dystrophy; muscular, limb-girdle | limb girdle muscular dystrophy | limb-girdle muscular dystrophies | limb-girdle muscular dystrophy | limb-girdle muscular dystrophy (LGMD) | limb-girdle muscular weakness and atrophy | limb-girdle syndrome | limb-girdle syndrome (LGS) | muscular dystrophy limb-girdle | muscular; dystrophy, limb-girdle | myopathic limb-girdle syndrome | progressive muscular dystrophy of the limb-girdle | progressive muscular dystrophy of the limb-girdle (diagnosis) HPO2016_07_04:Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders). [HPO:curators] | JABL99:A progressive disorder involving pelvic and scapular girdle muscles marked by weakness of proximal muscles of hip and shoulder areas with variable psychiatric disorders and occasional mild mental retardation. Type IA (LGMD1A) Synonym: proximal limb-girdle muscular dystrophy type 1A A slowly progressive form of muscular dystrophy affecting the proximal limb muscles but sparing the face. (159000) Type IB (LGMD1B) Synonym: proximal limb-girdle muscular dystrophy type 1B A slowly progressive form of muscular dystrophy differing from LGMD1A by the nasal quality of speech. (OMIM 159001) Type 2 (LGMD2, LGMD2A) Synonyms: Leyden-Mobius syndrome distal muscular dystrophy pelvofemoral muscular dystrophy pelvofemoral syndrome tibial muscular dystrophy Muscular dystrophy involving first the pelvic or, less commonly, shoulder girdle with occasional pseudohypertrophy of the calves with onset usually in childhood but sometimes in later stages of life. Muscle wasting tends to be asymmetric when the upper limbs are first involved. Progression of disease varies with inability to walk usually taking place at about 20 to 30 years of onset. Facial weakness and contractures may occur later. (OMIM 253600) Type 3 (LGMD3, LGMD2B) A slowly progressive form of muscular dystrophy involving the pelvic girdle with onset in the late teens. (OMIM 253601) | MSH2017_2016_08_12:A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles). | NCI2016_02D:A group of autosomal recessive and less frequently autosomal dominant muscular dystrophies affecting the muscles of the hips and shoulders. HPO2016_07_04:HP:0006785|ICD10CM_2017:G71.0|MSH2017_2016_08_12:D049288|OMIM2016_04_17:MTHU039637|OMIM2016_04_17:MTHU047724|SNOMEDCT_US_2016_09_01:56096001|SNOMEDCT_US_2016_09_01:93153005 C0400807 Stress stomach ulcer Acute gastric erosion associated with severe burns | Curling's ulcer of stomach | Gastric Stress Ulcer | Gastric stress ulcer | Stress ulcer of stomach | Stress ulcer of stomach (disorder) | Stress ulcers of stomach | Stress ulcers of stomach, NOS | stress stomach ulcer | stress ulcer | stress ulcer stomach | stress ulcers | ulcer stress | ulcers stress SNOMEDCT_US_2016_09_01:39755000|SNOMEDCT_US_2016_09_01:415624002|SNOMEDCT_US_2016_09_01:77282005 C4014954 Neutropenia, severe congenital, 6, autosomal recessive NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE | SCN6 OMIM2016_04_17:616012|OMIM2016_04_17:616022 C0796250 Partington x-linked mental retardation syndrome MENTAL RETARDATION, X-LINKED 36 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 1 | MENTAL RETARDATION, X-LINKED, WITH DYSTONIC MOVEMENTS, ATAXIA, AND SEIZURES | MRX36 | MRXS1 | Mental Retardation, X-Linked 36 | Mental retardation, X-linked, syndromic 1 | Mental retardation, X-linked, with dystonic movements, ataxia, and seizures | Mental retardation-dystonic movements-ataxia-seizures syndrome | PARTINGTON SYNDROME | PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME | PRTS | Partington X-linked mental retardation syndrome | Partington syndrome | Partington syndrome (PRTS) | Partington x-linked mental retardation syndrome | Partington-Mulley syndrome | X-linked intellectual deficit-dystonia-dysarthria syndrome | X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) | X-linked mental retardation syndrome 1 | X-linked mental retardation syndrome 1 (MRXS1) | mental retardation-dystonic movements-ataxia-seizures syndrome JABL99:Mental retardation syndrome with episodic dystonic spasms of the hands and dysarthria. MSH2017_2016_08_12:C536300|OMIM2016_04_17:300382|OMIM2016_04_17:309510|SNOMEDCT_US_2016_09_01:702412005 C4020790 Medullary sponge kidney disease Medullary sponge kidney disease HPO2016_07_04:HP:0008659 C1861786 Hyperkeratotic cutaneous capillary venous malformations associated with cerebral capillary malformations HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS | Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations MSH2017_2016_08_12:C566153|OMIM2016_04_17:116860|OMIM2016_04_17:604214 C3665488 Familial osteochondritis dissecans Familial Osteochondritis Dissecans | Familial osteochondritis dissecans | Familial osteochondritis dissecans (disorder) | OD | OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS | Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis | Osteochondritis dissecans and short stature SNOMEDCT_US_2016_09_01:A rare genetic skeletal disorder with clinical features of abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. MSH2017_2016_08_12:C580095|OMIM2016_04_17:155760|OMIM2016_04_17:165800|SNOMEDCT_US_2016_09_01:715899006 C4020764 Blood protein disease Blood protein disease HPO2016_07_04:HP:0010876 C3553813 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 MDDGA8 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED OMIM2016_04_17:614828|OMIM2016_04_17:614830 C4012968 Mild global developmental delay Mild global developmental delay HPO2016_07_04:A mild delay in the achievement of motor or mental milestones in the domains of development of a child. [DDD:hvfirth] HPO2016_07_04:HP:0011342|OMIM2016_04_17:MTHU046013 C1864794 Abnormal odontoid peg Abnormal odontoid peg | Abnormal odontoid process | Abnormality of the odontoid process HPO2016_07_04:Abnormality of the dens of the axis, which is also known as the odontoid process. [HPO:probinson] HPO2016_07_04:HP:0003310|OMIM2016_04_17:MTHU000500|OMIM2016_04_17:MTHU034512 C0023437 Acute basophilic leukemia Acute Basophilic Leukemia | Acute Basophilic Leukemias | Acute basophilic leukaemia | Acute basophilic leukemia | Acute basophilic leukemia (morphologic abnormality) | Basophilic Leukemia, Acute | Basophilic Leukemias, Acute | Leukemia, Acute Basophilic | Leukemia, Basophilic, Acute | Leukemia, Basophilic, Acute [Disease/Finding] | Leukemias, Acute Basophilic | acute basophilic leukemia | acute basophilic leukemia (diagnosis) | leukemia acute basophilic MSH2017_2016_08_12:A rare acute myeloid leukemia in which the primary differentiation is to BASOPHILS. It is characterized by an extreme increase of immature basophilic granulated cells in the bone marrow and blood. Mature basophils are usually sparse. | NCI2016_02D:A rare acute myeloid leukemia in which the immature cells differentiate towards basophils. ICD10CM_2017:C94.8|MSH2017_2016_08_12:D015471|SNOMEDCT_US_2016_09_01:69077002 C0238115 Boerhaave syndrome BOERHAAVE SYNDROME | BOERHAAVE'S SYNDROME | Boerhaave syndrome | Boerhaave's syndrome | Boerhaave's syndrome (diagnosis) | Boerhave syndrome | Spontaneous esophageal perforation | Spontaneous esophageal rupture | Spontaneous oesophageal perforation | Spontaneous perforation of esophagus | Spontaneous perforation of oesophagus | Spontaneous perforation of oesophagus (disorder) | Spontaneous rupture of esophagus | Spontaneous rupture of esophagus (disorder) | Spontaneous rupture of oesophagus | boerhaave syndrome | boerhaave's syndrome | boerhaaves syndrome HPO2016_07_04:The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. [HPO:probinson] HPO2016_07_04:HP:0005203|MSH2017_2016_08_12:C536571|OMIM2016_04_17:MTHU025692|SNOMEDCT_US_2016_09_01:19995004|SNOMEDCT_US_2016_09_01:307217000 C4024224 Chilblain lesions Chilblain lesions HPO2016_07_04:Chilblains are acral ulcers. [HPO:curators] HPO2016_07_04:HP:0009710 C1332895 Cns teratoma CNS Teratoma | Central Nervous System Teratoma | Teratoma of CNS | Teratoma of Central Nervous System | Teratoma of the CNS | Teratoma of the Central Nervous System NCI2016_02D:A mature or immature teratoma that affects the central nervous system. C0149881 Epididymo-orchitis EPIDIDYMOORCHITIS | Epididymo-orchitis | Epididymo-orchitis (disorder) | Epididymo-orchitis NOS | Epididymo-orchitis NOS (disorder) | Epididymo-orchitis unspecified | Epididymo-orchitis unspecified (disorder) | Epididymo-orchitis, NOS | Orchitis and epididymitis | Orchitis and epididymitis (disorder) | Orchitis and epididymitis NOS | Orchitis and epididymitis NOS (disorder) | Orchitis and epididymitis, unspecified | Orchitis/epididymitis | epididymitis orchitis | epididymo orchitis | epididymo-orchitis | epididymoorchitis | orchitis epididymitis | orchitis with epididymitis | orchitis with epididymitis (diagnosis) ICD10CM_2017:N45|ICD10CM_2017:N45.3|ICD9CM_2014:604|ICD9CM_2014:604.90|SNOMEDCT_US_2016_09_01:155913003|SNOMEDCT_US_2016_09_01:155915005|SNOMEDCT_US_2016_09_01:155917002|SNOMEDCT_US_2016_09_01:197983000|SNOMEDCT_US_2016_09_01:198001001|SNOMEDCT_US_2016_09_01:198003003|SNOMEDCT_US_2016_09_01:198004009|SNOMEDCT_US_2016_09_01:24084007 C1843013 Alzheimer disease, familial, type 3 AD3 | ALZHEIMER DISEASE 3 | ALZHEIMER DISEASE 3, EARLY-ONSET | ALZHEIMER DISEASE, FAMILIAL, 3 | Alzheimer Disease 3, Early-Onset | Alzheimer Disease, Familial, 3 | Alzheimer disease 3 | Alzheimer disease early onset type 3 | Alzheimer disease type 3 | Alzheimer disease, familial, type 3 | Familial Alzheimer Disease, Type 3 | Familial Alzheimer's Disease, Type 3 NCI2016_02D:Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene. MSH2017_2016_08_12:C536598|OMIM2016_04_17:104311|OMIM2016_04_17:607822 C0162674 Chronic progressive external ophthalmoplegia CPEO | CPEO - chronic progressive external ophthalmoplegia | Chronic Progressive External Ophthalmoplegia | Chronic progressive external ophthalmoplegia | Chronic progressive external ophthalmoplegia (disorder) | Chronic progressive external ophthalmoplegia [Ambiguous] | Chronic progressive ophthalmoplegia | Disease, Graefe | Dystrophy, Ocular Muscular | External Ophthalmoplegia, Progressive | External ophthalmoplegia, progressive | External ophthalmoplegia, progressive (PEO) | Graefe Disease | Graefe's Disease | Graefe's disease | Mitochondrial Ocular Myopathy | Muscular Dystrophies, Ocular | Muscular Dystrophy, Ocular | Myopathy, Mitochondrial Ocular | Ocular Muscular Dystrophies | Ocular Muscular Dystrophy | Ocular Myopathy of Von Graefe Fuchs | Ocular Myopathy of Von Graefe-Fuchs | Ocular Myopathy, Mitochondrial | Ocular myopathy, von Graefe-Fuchs | Ophthalmoplegia, Chronic Progressive External | Ophthalmoplegia, Chronic Progressive External [Disease/Finding] | Ophthalmoplegia, Progressive External | Ophthalmoplegia, progressive external | PEO - Progressive external ophthalmoplegia | Progressive External Ophthalmoplegia | Progressive external ophthalmoplegia | Progressive external ophthalmoplegia (disorder) | Progressive muscular dystrophy, ophthalmoplegic type | Progressive paralysis or weakness of muscles of eye motility | Progressive paralysis or weakness of muscles of eye movement | chronic external progressive ophthalmoplegia | chronic progressive external ophthalmoplegia | chronic progressive external ophthalmoplegia (CPEO) | chronic progressive external ophthalmoplegia (diagnosis) | chronic progressive paralysis of the external eye muscle | cpeo | ophthalmoplegia; progressive external | progressive; ophthalmoplegia, external CHV2011_02:a disorder characterized by slowly progressive paralysis of the external eye muscles | HPO2016_07_04:Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades. [HPO:probinson] | MSH2017_2016_08_12:A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422) HPO2016_07_04:HP:0000544|HPO2016_07_04:HP:0000590|ICD10CM_2017:H49.4|ICD9CM_2014:378.72|MSH2017_2016_08_12:D017246|OMIM2016_04_17:MTHU036932|OMIM2016_04_17:MTHU037266|OMIM2016_04_17:MTHU038804|OMIM2016_04_17:MTHU051881|SNOMEDCT_US_2016_09_01:194034008|SNOMEDCT_US_2016_09_01:194126004|SNOMEDCT_US_2016_09_01:46252003 C1857121 Neurodevelopmental regression Neurodevelopmental regression HPO2016_07_04:HP:0002376|OMIM2016_04_17:MTHU013308 C4022418 Comodogenic acne Comodogenic acne HPO2016_07_04:HP:0040137 C1516426 Cervical adenosarcoma Cervical Adenosarcoma | Cervical Mullerian Adenosarcoma | Cervical M眉llerian Adenosarcoma NCI2016_02D:A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements. C3279439 Spontaneous abortion, recurrent Recurrent spontaneous abortion | Spontaneous abortion, recurrent HPO2016_07_04:Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. [HPO:probinson] HPO2016_07_04:HP:0200067|OMIM2016_04_17:MTHU032629 C1848213 Periventricular heterotopia, x-linked BPNH | Bilateral Periventricular Nodular Heterotopia | Familial Nodular Heterotopia | Familial Nodular Heterotopias | HETEROTOPIA, FAMILIAL NODULAR | HETEROTOPIA, PERIVENTRICULAR NODULAR, 1 | HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT | Heterotopia, Familial Nodular | Heterotopia, Periventricular, X-Linked Dominant | Heterotopia, X-Linked Periventricular | Heterotopias, Familial Nodular | Heterotopias, X-Linked Periventricular | NHBP | NODULAR HETEROTOPIA, BILATERAL PERIVENTRICULAR | Nodular Heterotopia, Bilateral Periventricular | Nodular Heterotopia, Familial | Nodular Heterotopias, Familial | PERIVENTRICULAR NODULAR HETEROTOPIA 1 | PERIVENTRICULAR NODULAR HETEROTOPIA 4, FORMERLY | PVH - Periventricular heterotopia | PVNH1 | PVNH4, FORMERLY | Periventricular Heterotopia, X Linked | Periventricular Heterotopia, X-Linked | Periventricular Heterotopias, X-Linked | Periventricular Nodular Heterotopia 1 | X-Linked Periventricular Heterotopia | X-Linked Periventricular Heterotopias | X-linked periventricular heterotopia | X-linked periventricular heterotopia (disorder) MSH2017_2016_08_12:D054091|OMIM2016_04_17:300017|OMIM2016_04_17:300049|SNOMEDCT_US_2016_09_01:448227009 C3463992 Epileptic encephalopathy, early infantile, 1 EIEE1 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 | Epileptic Encephalopathy, Early Infantile, 1 | INFANTILE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY | INFANTILE SPASM SYNDROME, X-LINKED 1 | ISSX1 | Infantile Epileptic-Dyskinetic Encephalopathy | Infantile Spasm Syndrome, X-Linked 1 | OHTAHARA SYNDROME, X-LINKED | WEST SYNDROME, X-LINKED | West Syndrome, X-Linked | XMESID MSH2017_2016_08_12:C567924|OMIM2016_04_17:300382|OMIM2016_04_17:308350 C4225261 Scbms SCBMS | SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME OMIM2016_04_17:602121|OMIM2016_04_17:616632 C1863236 Scid due to ada deficiency, early-onset SCID DUE TO ADA DEFICIENCY, EARLY-ONSET | SCID Due to ADA Deficiency, Early-Onset | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY OMIM2016_04_17:102700|OMIM2016_04_17:608958 C1842366 Low anterior hairline Low anterior hairline | Low frontal hairline | Low-set frontal hairline HPO2016_07_04:Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. [pmid:19125436] HPO2016_07_04:HP:0000294|OMIM2016_04_17:MTHU002392|OMIM2016_04_17:MTHU004167|OMIM2016_04_17:MTHU020354 C1843807 Basal ganglia disease, biotin-responsive BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE | BBGD | Basal ganglia disease, biotin-responsive | Biotin-responsive basal ganglia disease | Biotin-thiamine-responsive basal ganglia disease | Biotin-thiamine-responsive basal ganglia disease (disorder) | ENCEPHALOPATHY, THIAMINE-RESPONSIVE | THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) | THMD2 | Thiamine metabolism dysfunction syndrome 2 | Thiamine transporter-2 deficiency | Thiamine-responsive encephalopathy MSH2017_2016_08_12:C537658|OMIM2016_04_17:606152|OMIM2016_04_17:607483|SNOMEDCT_US_2016_09_01:703522009 C1336314 Stage ii renal pelvis and ureter cancer Stage II Renal Pelvis and Ureter Cancer | Stage II Renal Pelvis and Ureter Carcinoma | Stage II Renal Pelvis and Ureter Carcinoma AJCC v7 | stage II transitional cell cancer of the renal pelvis and ureter NCI2016_02D:Stage II includes: T2, N0, M0. T2: Tumor invades the muscularis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.) | NCI2016_NCI-GLOSS_1602D:Cancer has spread through the layer of connective tissue to the muscle layer of the renal pelvis and/or ureter. C0279665 Ovarian cancer mucinous cystadenocarcinoma Mucinous Cystadenocarcinoma of Ovary | Mucinous Cystadenocarcinoma of the Ovary | Mucinous cystadenocarcinoma of ovary | Mucinous cystadenocarcinoma of ovary (disorder) | Mucinous cystadenocarcinoma ovary | OVARIAN CANCER MUCINOUS CYSTADENOCARCINOMA | Ovarian Mucinous Cystadenocarcinoma | cystadenocarcinoma mucinous ovaries | cystadenocarcinoma of the ovary, mucinous | cystadenocarcinoma, mucinous, ovarian | cystadenocarcinoma, ovarian mucinous | mucinous cystadenocarcinoma of ovary | mucinous cystadenocarcinoma of ovary (diagnosis) | mucinous cystadenocarcinoma of the ovary | ovarian cancer, mucinous cystadenocarcinoma | ovarian mucinous cystadenocarcinoma | ovary cancer, mucinous cystadenocarcinoma NCI2016_02D:An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis. SNOMEDCT_US_2016_09_01:254851009 C4021681 Short distal phalanx of the 3rd finger Hypoplastic/small distal phalanx of the 3rd finger | Short distal phalanx of the 3rd finger | Short distal phalanx of the third finger | Short outermost bone of the middle finger | Short terminal phalanx of middle finger HPO2016_07_04:Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger. [HPO:sdoelken] HPO2016_07_04:HP:0004180 C1865290 Hyperinsulinemic hypoglycemia, familial, 3 HHF3 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 | Hyperinsulinemic hypoglycemia, familial, 3 MSH2017_2016_08_12:C538374|OMIM2016_04_17:138079|OMIM2016_04_17:602485 C0455991 Fetal dysrhythmia Fetal dysrhythmia | Fetal dysrhythmia (disorder) | Foetal dysrhythmia SNOMEDCT_US_2016_09_01:276512006 C4022020 Mucosal telangiectasiae Mucosal telangiectasiae HPO2016_07_04:Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs. [HPO:sdoelken] HPO2016_07_04:HP:0100579 C1833477 Colorectal cancer, hereditary nonpolyposis, type 5 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 | Colorectal Cancer, Hereditary Nonpolyposis, Type 5 | HNPCC5 MSH2017_2016_08_12:C563456|OMIM2016_04_17:600678|OMIM2016_04_17:614350 C0393587 Kinesiogenic choreoathetosis Kinesiogenic choreoathetosis | Kinesiogenic choreoathetosis (disorder) SNOMEDCT_US_2016_09_01:230309008 C0685381 Congenital hypoplasia of radius Congenital Hypoplasia of Radius | Congenital hypoplasia of radius | Congenital hypoplasia of radius (disorder) | Congenital short radius | Hypoplasia of radius | Hypoplasia of radius (disorder) | Hypoplasia of the radius | Hypoplastic radii | Hypoplastic radius | Radial Hypoplasia | Radial hypoplasia | Short radii | Short radius | Shortening of radius | hypoplasia; radius | radius; hypoplasia | radius; short, congenital | short radii | short; radius, congenital HPO2016_07_04:Underdevelopment of the radius. [HPO:probinson] | NCI2016_02D:A congenital deformity characterized by the presence of hypoplastic radius. It is usually associated with club hand deformity. HPO2016_07_04:HP:0002984|OMIM2016_04_17:MTHU003482|OMIM2016_04_17:MTHU005295|OMIM2016_04_17:MTHU005514|OMIM2016_04_17:MTHU009616|OMIM2016_04_17:MTHU014755|OMIM2016_04_17:MTHU014818|SNOMEDCT_US_2016_09_01:205170001|SNOMEDCT_US_2016_09_01:93288001 C1418371 Pck1 gene PCK1 | PCK1 gene | PEPCK, CYTOSOLIC | PEPCK-C | PEPCK1 | PEPCKC | PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE | phosphoenolpyruvate carboxykinase 1 OMIM2016_04_17:614168 C0009701 Congenital dislocation Congenital dislocation | Congenital dislocation (morphologic abnormality) | Congenital dislocation, NOS | Developmental dislocation | Developmental dislocation, NOS | Dislocation, Congenital | congenital dislocation | congenital dislocations | congenital; dislocation | dislocation; congenital SCTSPA_2016_04_30:Luxaci贸n presente al nacer | SNOMEDCT_US_2016_09_01:Dislocation present at birth SNOMEDCT_US_2016_09_01:13810000 C1968550 Mental retardation, x-linked, syndromic 13 MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 | MRXS13 | Mental Retardation, X-Linked, Syndromic 13 MSH2017_2016_08_12:C566875|OMIM2016_04_17:300005|OMIM2016_04_17:300055 C0752182 Central nervous system protozoal infections Central Nervous System Protozoal Infections | Central Nervous System Protozoal Infections [Disease/Finding] | Infection, Central Nervous System, Protozoal | Infections, Protozoal, Central Nervous System | Protozoal Infections, Central Nervous System MSH2017_2016_08_12:Infections of the brain, spinal cord, or meninges by single celled organisms of the former subkingdom known as protozoa. The central nervous system may be the primary or secondary site of protozoal infection. These diseases may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts. MSH2017_2016_08_12:D020808 C1510497 Lens opacities Cloudy lens | LENS OPACITY | LENTICULAR OPACITY | LO - Lens opacity | Lens Opacities | Lens Opacity | Lens opacities | Lens opacity | Lens opacity (finding) | Lenticular opacities | Lenticular opacity | OPACITY LENTICULAR | Opacities, Lens | Opacity lenticular | Opacity, Lens | Opacity, lens | lens opacity | lens; opacity | lenticular opacities | lenticular opacity | opacity; lens HPO2016_07_04:HP:0000518|MSH2017_2016_08_12:D002386|OMIM2016_04_17:MTHU031643|SNOMEDCT_US_2016_09_01:193570009|SNOMEDCT_US_2016_09_01:282098009|SNOMEDCT_US_2016_09_01:62795009 C1835852 Alopecia-mental retardation syndrome 2 ALOPECIA-MENTAL RETARDATION SYNDROME 2 | APMR2 | Alopecia-Mental Retardation Syndrome 2 MSH2017_2016_08_12:C563668|OMIM2016_04_17:610422 C0161410 Accessory nerve injuries Accessory (11th) nerve injury | Accessory Nerve Injuries | Accessory Nerve Injuries [Disease/Finding] | Accessory Nerve Injury | Accessory Nerve Trauma | Accessory Nerve Traumas | Accessory Neuropathies, Traumatic | Accessory Neuropathy, Traumatic | Accessory nerve injury | Accessory nerve injury (disorder) | Cranial Nerve XI Injury | Eleventh Cranial Nerve Injuries | Eleventh Cranial Nerve Injury | Eleventh Nerve Palsy, Traumatic | Eleventh Nerve Trauma | Eleventh cranial nerve injury | Eleventh-Nerve Palsies, Traumatic | Eleventh-Nerve Palsy, Traumatic | Eleventh-Nerve Trauma | Eleventh-Nerve Traumas | Injuries, Accessory Nerve | Injury of 11th cranial nerve | Injury of accessory nerve | Injury of accessory nerve (disorder) | Injury of eleventh cranial nerve | Injury to accessory nerve | Injury to eleventh cranial nerve | Injury, Accessory Nerve | Injury, Cranial Nerve XI | Injury, Eleventh Cranial Nerve | Nerve Injuries, Accessory | Nerve Injury, Accessory | Nerve Trauma, Accessory | Nerve Traumas, Accessory | Neuropathies, Traumatic Accessory | Neuropathy, Traumatic Accessory | Palsies, Traumatic Eleventh-Nerve | Palsy, Traumatic Eleventh-Nerve | Spinal Accessory Nerve Injury | Spinal Accessory Nerve Trauma | Spinal Accessory Neuropathy, Traumatic | Trauma, Accessory Nerve | Trauma, Eleventh-Nerve | Traumas, Accessory Nerve | Traumas, Eleventh-Nerve | Traumatic Accessory Neuropathies | Traumatic Accessory Neuropathy | Traumatic Eleventh Nerve Palsy | Traumatic Eleventh-Nerve Palsies | Traumatic Eleventh-Nerve Palsy | XIth nerve injury | accessory nerve injury | accessory nerve injury (diagnosis) | injury; accessory nerve | n.accessorius; injury | traumatic accessory nerve injury | traumatic accessory nerve injury (diagnosis) MSH2017_2016_08_12:Traumatic injuries to the ACCESSORY NERVE. Damage to the nerve may produce weakness in head rotation and shoulder elevation. ICD10CM_2017:S04.7|ICD9CM_2014:951.6|MSH2017_2016_08_12:D061227|SNOMEDCT_US_2016_09_01:157639004|SNOMEDCT_US_2016_09_01:90630009 C0030591 Paroxysmal ventricular tachycardia PAROXYSMAL VENTRICULAR TACHYCARDIA | PAROXYSMAL VT | Paroxysmal VT | Paroxysmal Ventricular Tachycardia | Paroxysmal Ventricular Tachycardia by ECG Finding | Paroxysmal Ventricular Tachycardia by EKG Finding | Paroxysmal ventric. tachyc. | Paroxysmal ventricular tachycardia | Paroxysmal ventricular tachycardia (disorder) | TACHYCARDIA PAROXYSMAL VENTRICULAR | TACHYCARDIA, VENTRICULAR, PAROXYSMAL | Tachycardia paroxysmal ventricular | VENTRICULAR TACHYCARDIA PAROXYSMAL | Ventricular tachycardia (& [paroxysmal]) | Ventricular tachycardia (& [paroxysmal]) (disorder) | Ventricular tachycardia, paroxysmal | paroxysmal ventricular tachycardia | paroxysmal ventricular tachycardia (diagnosis) | paroxysmal; tachycardia, ventricular | tachycardia; paroxysmal, ventricular NCI2016_02D:An episodic form of ventricular tachycardia, with abrupt onset and termination. | NCI2016_CDISC_1602D:An episodic form of ventricular tachycardia, with abrupt onset and termination. (NCI) HPO2016_07_04:HP:0004751|ICD9CM_2014:427.1|SNOMEDCT_US_2016_09_01:155370003|SNOMEDCT_US_2016_09_01:195075005|SNOMEDCT_US_2016_09_01:66657009 C0522055 Electrocardiogram abnormal ABNORMAL ELECTROCARDIOGRAM | Abnormal ECG | Abnormal ECG (finding) | Abnormal EKG | Abnormal EKG finding | Abnormal electrocardiogram | DISORDER ECG/EKG (NOS) | Disorder ECG/EKG (NOS) | Disorder electrocardiogram (NOS) | ECG ABNORMAL | ECG Abnormal | ECG EKG ABNORMAL (NOS) | ECG EKG abnormal (NOS) | ECG abnormal | ECG abnormal (finding) | ECG abnormal NOS | ECG electrocardiogram abn. | EKG ABNORMAL | EKG abnormal | ELECTROCARDIOGRAM ABNORMAL | ELECTROCARDIOGRAM ABNORMAL (NOS) | Electrocardiogram (ECG) abnormal | Electrocardiogram abnormal | Electrocardiogram abnormal (NOS) | Electrocardiogram abnormal (finding) | Electrocardiogram abnormal NOS | Electrocardiographic abnormalities | Electrocardiographic abnormality | [D]ECG electrocardiogram abn. | [D]Electrocardiogram (ECG) abnormal | [D]Electrocardiogram (ECG) abnormal (context-dependent category) | [D]Electrocardiogram (ECG) abnormal (situation) | abnormal ECG | abnormal EKG | abnormal ecg | abnormal ekg | abnormal ekg findings | abnormal ekgs | abnormal electrocardiogram | abnormal electrocardiogram (diagnosis) | abnormal electrocardiograms | abnormal; electrocardiogram | ekg abnormal | electrocardiogram; abnormal | electrocardiographic abnormality HPO2016_07_04:HP:0003115|HPO2016_07_04:HP:0011675|OMIM2016_04_17:MTHU007170|OMIM2016_04_17:MTHU012968|OMIM2016_04_17:MTHU025821|SNOMEDCT_US_2016_09_01:102594003|SNOMEDCT_US_2016_09_01:142015008|SNOMEDCT_US_2016_09_01:158649004|SNOMEDCT_US_2016_09_01:164855004|SNOMEDCT_US_2016_09_01:207459003 C0521667 Hindbrain hernia headache Hindbrain hernia headache | Hindbrain hernia headache (disorder) SNOMEDCT_US_2016_09_01:95659007 C3554519 Cowden syndrome 6 COWDEN SYNDROME 6 | CWS6 OMIM2016_04_17:164730|OMIM2016_04_17:615109 C1335367 Parotid gland squamous cell carcinoma Parotid Gland Squamous Cell Carcinoma | Parotid Squamous Cell Carcinoma | Squamous Cell Carcinoma of Parotid | Squamous Cell Carcinoma of Parotid Gland | Squamous Cell Carcinoma of the Parotid | Squamous Cell Carcinoma of the Parotid Gland NCI2016_02D:An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain. C4020963 Absent nares Abouphalia | Absent nares | Missing nostrils HPO2016_07_04:The nostrils (the paired channels of the nose) are not present. [HPO:probinson] HPO2016_07_04:HP:0100596 C0221028 Neonatal thrombocytopenia (disorder) Neonatal Thrombocytopenia | Neonatal purpura | Neonatal thrombocytopenia | Neonatal thrombocytopenia (disorder) | PURPURA NEONATAL | Purpura neonatal | Purpura of newborn | THROMBOCYTOPENIA NEONATAL | Thrombocytopenia neonatal | neonatal purpura | neonatal thrombocytopenia | thrombocytopenia; neonatal NCI2016_02D:A condition characterized by a decrease in the number of platelets in the blood below established reference ranges in a newborn.(NICHD) | NCI2016_NICHD_1602D:A condition characterized by a decrease in the number of platelets in the blood below established reference ranges in a newborn. SNOMEDCT_US_2016_09_01:82835005 C0007124 Noninfiltrating intraductal carcinoma Carcinoma in situ of breast ductal | Carcinoma, Intraductal | Carcinoma, Intraductal, Noninfiltrating | Carcinoma, Intraductal, Noninfiltrating [Disease/Finding] | Carcinoma, Noninfiltrating Intraductal | Carcinomas, Intraductal | Carcinomas, Noninfiltrating Intraductal | DCIS | DCIS of the breast | Ductal Breast Carcinoma In Situ | Ductal Carcinoma In Situ | Ductal Carcinoma In Situ of Breast | Ductal Carcinoma In Situ of the Breast | Ductal carcinoma in situ | Ductal carcinoma in situ (breast) | Intraduct ca, noninfilt NOS | Intraduct carcinoma in-situ | Intraduct carcinoma of breast | Intraduct carcinoma of breast (disorder) | Intraductal Breast Carcinoma | Intraductal Carcinoma | Intraductal Carcinoma of Breast | Intraductal Carcinoma of the Breast | Intraductal Carcinoma, Noninfiltrating | Intraductal Carcinomas | Intraductal Carcinomas, Noninfiltrating | Intraductal adenocarcinoma, non-infiltrating | Intraductal adenocarcinoma, noninfiltrating | Intraductal adenocarcinoma, noninfiltrating, NOS | Intraductal carcinoma | Intraductal carcinoma in situ | Intraductal carcinoma in situ of breast | Intraductal carcinoma in situ of breast (diagnosis) | Intraductal carcinoma in situ of breast (disorder) | Intraductal carcinoma of breast | Intraductal carcinoma of breast (diagnosis) | Intraductal carcinoma of breast (disorder) | Intraductal carcinoma, NOS | Intraductal carcinoma, non-infiltrating | Intraductal carcinoma, non-infiltrating NOS | Intraductal carcinoma, noninfiltrating | Intraductal carcinoma, noninfiltrating (morphologic abnormality) | Intraductal carcinoma, noninfiltrating NOS | Intraductal carcinoma, noninfiltrating, NOS | Intraductal carcinoma, noninfiltrating, no ICD-O subtype | Intraductal carcinoma, noninfiltrating, no ICD-O subtype (morphologic abnormality) | Intraductal carcinoma, noninfiltrating, no International Classification of Diseases for Oncology subtype | Intraductal carcinoma, noninfiltrating, no International Classification of Diseases for Oncology subtype (morphologic abnormality) | Non-Infiltrating Ductal Adenocarcinoma of Breast | Non-Infiltrating Ductal Adenocarcinoma of the Breast | Non-Infiltrating Ductal Breast Adenocarcinoma | Non-Infiltrating Ductal Breast Carcinoma | Non-Infiltrating Ductal Carcinoma of Breast | Non-Infiltrating Ductal Carcinoma of the Breast | Non-Infiltrating Intraductal Adenocarcinoma | Non-Infiltrating Intraductal Adenocarcinoma of Breast | Non-Infiltrating Intraductal Adenocarcinoma of the Breast | Non-Infiltrating Intraductal Breast Adenocarcinoma | Non-Infiltrating Intraductal Carcinoma | Non-Invasive Ductal Adenocarcinoma of Breast | Non-Invasive Ductal Adenocarcinoma of the Breast | Non-Invasive Ductal Breast Adenocarcinoma | Non-Invasive Ductal Breast Carcinoma | Non-Invasive Ductal Carcinoma of Breast | Non-Invasive Ductal Carcinoma of the Breast | Non-Invasive Intraductal Adenocarcinoma of Breast | Non-Invasive Intraductal Adenocarcinoma of the Breast | Non-Invasive Intraductal Breast Adenocarcinoma | Non-infiltrating intraductal adenocarcinoma | Non-infiltrating intraductal carcinoma | Noninfiltrating Intraductal Carcinoma | Noninfiltrating Intraductal Carcinomas | [M]Intraduct ca, noninfilt NOS | [M]Intraductal carcinoma, non-infiltrating NOS | [M]Intraductal carcinoma, non-infiltrating NOS (morphologic abnormality) | adenocarcinoma; intraductal, noninfiltrating, breast | breast cancer intraductal | breast carcinoma ductal situ | breast ductal carcinoma in situ | breast malignant carcinoma intraductal | breast neoplasm carcinoma in situ intraductal | breast; carcinoma in situ, intraductal | breast; carcinoma, intraductal | breast; intraductal carcinoma | breast; intraductal carcinoma in situ | carcinoma ductal in situ | carcinoma ductal situ | carcinoma in situ; intraductal, breast | carcinoma in situ; intraductal, unspecified site | carcinoma intraductal | carcinoma; intraductal, breast | carcinoma; intraductal, unspecified site | dci | dcis | ductal cancer in situ of the breast | ductal carcinoma in situ | ductal carcinoma in situ of the breast | ductal carcinoma situ | ductal in situ carcinoma | in situ ductal breast carcinoma | in situ ductal carcinoma | intraductal breast cancer | intraductal breast carcinoma | intraductal carcinoma | intraductal carcinoma breast | intraductal; carcinoma in situ, breast | intraductal; carcinoma in situ, unspecified site | intraductal; carcinoma, breast | intraductal; carcinoma, unspecified site | pTis: Ductal carcinoma in situ (breast) | pTis: Ductal carcinoma in situ (breast) (finding) | pTis: Ductal carcinoma in situ (breast) (tumor staging) HPO2016_07_04:Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer. [pmid:24415964] | MSH2017_2016_08_12:A noninvasive (noninfiltrating) carcinoma of the breast characterized by a proliferation of malignant epithelial cells confined to the mammary ducts or lobules, without light-microscopy evidence of invasion through the basement membrane into the surrounding stroma. | NCI2016_02D:A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. | NCI2016_NCI-GLOSS_1602D:A noninvasive condition in which abnormal cells are found in the lining of a breast duct. The abnormal cells have not spread outside the duct to other tissues in the breast. In some cases, ductal carcinoma in situ may become invasive cancer and spread to other tissues, although it is not known at this time how to predict which lesions will become invasive. HPO2016_07_04:HP:0030075|ICD10CM_2017:D05.1|MSH2017_2016_08_12:D002285|OMIM2016_04_17:MTHU053128|SNOMEDCT_US_2016_09_01:109889007|SNOMEDCT_US_2016_09_01:189338004|SNOMEDCT_US_2016_09_01:189705006|SNOMEDCT_US_2016_09_01:278053004|SNOMEDCT_US_2016_09_01:373176000|SNOMEDCT_US_2016_09_01:86616005 C2673954 Absent skin pigmentation Absent skin pigmentation | Lack of skin coloration HPO2016_07_04:Lack of skin pigmentation (coloring). [HPO:probinson] HPO2016_07_04:HP:0200098|OMIM2016_04_17:MTHU023719 C1852222 Failure of tooth eruption, primary DENTAL NONERUPTION | Dental Noneruption | FAILURE OF TOOTH ERUPTION, PRIMARY | Failure of Tooth Eruption, Primary | PFE | POSTERIOR OPENBITE MALOCCLUSION, FAMILIAL | PRIMARY FAILURE OF ERUPTION, NONSYNDROMIC | PRIMARY RETENTION OF TEETH | Posterior Openbite, Familial | Primary Failure of Eruption, Nonsyndromic | Primary Retention of Teeth | UNERUPTED SECOND PRIMARY MOLAR | Unerupted Second Primary Molar MSH2017_2016_08_12:C565114|OMIM2016_04_17:125350|OMIM2016_04_17:168468 C4274470 Congenital eyelid retraction Congenital eyelid retraction | Congenital retraction of eyelid | Congenital retraction of eyelid (disorder) SNOMEDCT_US_2016_09_01:A very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips. SNOMEDCT_US_2016_09_01:715769008 C0029342 Orthomyxoviridae infections DISEASES DUE TO ORTHOMYXOVIRIDAE | Disease caused by Orthomyxoviridae | Disease caused by Orthomyxoviridae (disorder) | Disease due to Orthomyxoviridae | Disease due to Orthomyxoviridae (disorder) | Disease due to Orthomyxoviridae, NOS | Infection, Orthomyxoviridae | Infection, Orthomyxovirus | Infections, Orthomyxoviridae | Infections, Orthomyxovirus | Orthomyxoviridae Infection | Orthomyxoviridae Infections | Orthomyxoviridae Infections [Disease/Finding] | Orthomyxoviridae disease | Orthomyxovirus Infection | Orthomyxovirus Infections | Orthomyxovirus infection | Orthomyxovirus infection, NOS | orthomyxovirus infection CSP2006:virus diseases caused by Orthomyxoviridae. | MSH2017_2016_08_12:Virus diseases caused by the ORTHOMYXOVIRIDAE. | MSHFRE2016:Maladies dues aux Orthomyxoviridae. MSH2017_2016_08_12:D009976|SNOMEDCT_US_2016_09_01:65093003 C2981625 Stage ii intrahepatic cholangiocarcinoma Stage II Intrahepatic Cholangiocarcinoma | Stage II Intrahepatic Cholangiocarcinoma AJCC v7 NCI2016_02D:Stage II includes: T2, N0, M0. T2: Solitary tumor with vascular invasion or multiple tumors, with or without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.) C4073292 Afro-textured hair Afro-textured hair HPO2016_07_04:HP:0002224 C0079238 Fistulas gastrointestinal Digestive System Fistula | Digestive System Fistula [Disease/Finding] | Digestive System Fistulas | Fistula, Digestive System | Fistulas, Digestive System | Gastroenteric fistula | Gastrointestinal Fistula | Gastrointestinal fistula | Gastrointestinal fistula (disorder) | Gastrointestinal fistula, NOS | Gastrointestinal fistulae | fistulas gastrointestinal | gastrointestinal fistula | gastrointestinal fistula (diagnosis) MSH2017_2016_08_12:An abnormal passage communicating between any components of the digestive system, or between any part of the digestive system and surrounding organ(s). | NCI2016_02D:An abnormal communication between any part of the digestive system and another organ or cavity. | NCI2016_CTCAE_1602D:A disorder characterized by an abnormal communication between any part of the gastrointestinal system and another organ or anatomic site. MSH2017_2016_08_12:D016154|SNOMEDCT_US_2016_09_01:37831005 C1960397 Philadelphia chromosome-positive acute lymphoblastic leukemia Ph positive ALL | Ph+ ALL | Ph+ acute lymphoblastic leukaemia | Ph+ acute lymphoblastic leukemia | Ph-positive acute lymphoblastic leukemia | Philadelphia chromosome-positive acute lymphoblastic leukaemia | Philadelphia chromosome-positive acute lymphoblastic leukemia | Philadelphia chromosome-positive acute lymphoblastic leukemia (diagnosis) | Philadelphia chromosome-positive acute lymphoblastic leukemia (disorder) | Philadelphia chromosome-positive acute lymphoblastic leukemia (morphologic abnormality) | leukemia lymphocytic acute philadelphia chromosome-positive lymphoblastic HPO2016_07_04:HP:0004848|OMIM2016_04_17:MTHU017432|SNOMEDCT_US_2016_09_01:425688002|SNOMEDCT_US_2016_09_01:426955004 C3179000 Bone retrotorsion Bone Retrotorsion | Bone Retrotorsions | Bone Retroversion | Bone Retroversion [Disease/Finding] | Bone Retroversions | Retrotorsion, Bone | Retrotorsions, Bone | Retroversion, Bone | Retroversions, Bone MSH2017_2016_08_12:Attachment of a bone in which its head and neck is rotated excessively backward. MSH2017_2016_08_12:D060751 C0699731 Hereditary chorea Chorea, Hereditary | Choreas, Hereditary | Hereditary Chorea | Hereditary Choreas | chorea; hereditary | hereditary chorea | hereditary; chorea MSH2017_2016_08_12:D002819 C0342280 Aredyld ACRORENAL FIELD DEFECT, ECTODERMAL DYSPLASIA, AND LIPOATROPHIC DIABETES | AREDYLD | AREDYLD Syndrome | Acral renal ectodermal dysplasia lipoatrophic diabetes | Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes | Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes (disorder) MSH2017_2016_08_12:C537427|OMIM2016_04_17:207780|SNOMEDCT_US_2016_09_01:237610008 C0270871 Facial myokymia Facial Myokymia | Facial Myokymias | Facial myokymia | Facial myokymia (finding) | Facial myokymia (muscle quivering) | Involuntary facial contraction | Involuntary facial quivering | Myokymia, Facial | Myokymias, Facial | facial myokymia | facial myokymia (physical finding) | facial myokymia was seen | facial myokymias | myokymia; facial HPO2016_07_04:Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). [HPO:curators] HPO2016_07_04:HP:0000317|ICD10CM_2017:G51.4|MSH2017_2016_08_12:D005155|OMIM2016_04_17:MTHU038647|SNOMEDCT_US_2016_09_01:1070000 C0855097 B-cell small lymphocytic lymphoma refractory B-Cell Small Lymphocytic Lymphoma Refractory | B-cell small lymphocytic lymphoma refractory | Refractory B-Cell Small Lymphocytic Lymphoma | Refractory Small Lymphocytic Lymphoma | Small lymphocyte B lymphoma (Lukes-Collins Classification) refractory NCI2016_02D:B-cell small lymphocytic lymphoma that is resistant to treatment. C1860596 Familial dyschondroplasia Familial dyschondroplasia | PERTHES-LIKE HIP DISEASE, ENCHONDROMATA, AND ECCHONDROMATA | Perthes-like hip disease, enchondromata, and ecchondromata | UPINGTON DISEASE | Upington disease MSH2017_2016_08_12:C536472|OMIM2016_04_17:191520 C3203360 Suppuration Suppuration | Suppuration [Disease/Finding] | Suppurative | suppuration | suppurations | suppurative MSH2017_2016_08_12:A pathologic process consisting in the formation of pus. | NCI2016_02D:A pathologic process consisting of the formation and discharge of pus. MSH2017_2016_08_12:D013492 C1859486 Bietti crystalline corneoretinal dystrophy BCD | BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY | BIETTI CRYSTALLINE DYSTROPHY | BIETTI TAPETORETINAL DEGENERATION WITH MARGINAL CORNEAL DYSTROPHY | Bietti Crystalline Corneoretinal Dystrophy | Bietti Crystalline Dystrophy | Bietti Crystalline Retinopathy | Bietti crystalline retinopathy | Bietti tapetoretinal degeneration with marginal corneal dystrophy | Bietti's crystalline corneoretinal dystrophy | Bietti's crystalline dystrophy | Bietti's crystalline retinopathy | Bietti's crystalline retinopathy (diagnosis) | Bietti's crystalline retinopathy (disorder) | retinopathy bietti's crystalline MSH2017_2016_08_12:C535440|OMIM2016_04_17:210370|OMIM2016_04_17:608614|SNOMEDCT_US_2016_09_01:312927001 C0520736 Coombs positive hemolytic anemia Coombs positive haemolytic anaemia | Coombs positive hemolytic anemia | Coombs positive hemolytic anemia (disorder) | Coombs-positive hemolytic anemia | Direct Coombs positive HPO2016_07_04:A type of hemolytic anemia in which the Coombs test is positive. [HPO:probinson] HPO2016_07_04:HP:0004844|OMIM2016_04_17:MTHU004955|SNOMEDCT_US_2016_09_01:74789008 C3850155 Congenital microtia Congenital Microtia | Congenital Microtia [Disease/Finding] | Congenital Microtias | Microtia, Congenital | Microtias, Congenital MSH2017_2016_08_12:Malformation of external portion of EAR AURICLE. MSH2017_2016_08_12:D065817 C0750887 Adrenal cancer Adrenal Cancer | Adrenal Cancers | Adrenal Gland Cancer | Adrenal Gland Cancers | Adrenal gland cancer | Adrenal gland malignancy | Adrenal glands--Cancer | Adrenal neoplasms malignant | CA - Cancer of adrenal gland | Cancer of adrenal gland | Cancer of the Adrenal Gland | Cancer, Adrenal | Cancer, Adrenal Gland | Cancers, Adrenal | Cancers, Adrenal Gland | Malig neop adrenal gland NOS | Malignant Adrenal Gland Neoplasm | Malignant Adrenal Gland Tumor | Malignant Adrenal Neoplasm | Malignant Adrenal Tumor | Malignant Neoplasm of Adrenal Gland | Malignant Neoplasm of the Adrenal Gland | Malignant Tumor of Adrenal Gland | Malignant Tumor of the Adrenal Gland | Malignant neoplasm of adrenal gland | Malignant neoplasm of adrenal gland NOS | Malignant neoplasm of adrenal gland NOS (disorder) | Malignant neoplasm of adrenal gland, unspecified | Malignant neoplasm of suprarenal gland | Malignant neoplasm of unspecified part of adrenal gland | Malignant tumor of adrenal gland | Malignant tumor of adrenal gland (disorder) | Malignant tumour of adrenal gland | adrenal cancer | adrenal cancer gland | adrenal cancer glands | adrenal gland cancer | adrenals cancer | cancer adrenal | cancer adrenal gland | cancer of adrenal gland | cancer of the adrenal gland | malignant adrenal tumor | malignant neoplasm of adrenal gland | malignant neoplasm of adrenal gland (diagnosis) | malignant tumor of adrenal gland MEDLINEPLUS_20151021:Your adrenal, or suprarenal, glands are located on the top of each kidney. These glands produce hormones that you can't live without, including sex hormones and cortisol, which helps you respond to stress and has many other functions.
A number of disorders can affect the adrenal glands, including tumors. Tumors can be either benign or malignant. Benign tumors aren't cancer. Malignant ones are. Most adrenal gland tumors are benign. They usually do not cause symptoms and may not require treatment. Malignant adrenal gland cancers are uncommon.
Types of tumors include
Symptoms depend on the type of cancer you have. Treatments may include surgery, chemotherapy, or radiation therapy.
| NCI2016_02D:A primary or metastatic malignant neoplasm affecting the adrenal gland. | NCI2016_NCI-GLOSS_1602D:Cancer that forms in the tissues of the adrenal glands (two glands located just above the kidneys). The adrenal glands make hormones that control heart rate, blood pressure, and other important body functions. Adrenal cancer that starts in the outside layer of the adrenal gland is called adrenocortical carcinoma. Adrenal cancer that starts in the center of the adrenal gland is called malignant pheochromocytoma. ICD10CM_2017:C74|ICD10CM_2017:C74.9|ICD9CM_2014:194.0|MSH2017_2016_08_12:D000310|SNOMEDCT_US_2016_09_01:188337000|SNOMEDCT_US_2016_09_01:188338005|SNOMEDCT_US_2016_09_01:363355002|SNOMEDCT_US_2016_09_01:93665005 C0276496 Familial alzheimer disease (fad) Familial Alzheimer Disease (FAD) | Familial Alzheimer's disease | alzheimer disease familial | alzheimer disease familial (diagnosis) | familial Alzheimer disease | familial Alzheimer disease (FAD) | familial alzheimer disease | familial alzheimer's disease MSH2017_2016_08_12:D000544|SNOMEDCT_US_2016_09_01:79358009 C0542035 Erythroid hypoplasia Erythroblastopenia | Erythroid hypoplasia | HYPOPLASIA ERYTHROID | Hypoplasia erythroid | erytroid; hypoplasia | hypoplasia; erythroid HPO2016_07_04:Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. [DDD:akelly] HPO2016_07_04:HP:0012133 C2677821 Prostate cancer, hereditary, 13 HPC13 | PROSTATE CANCER, HEREDITARY, 13 | Prostate Cancer, Hereditary, 13 MSH2017_2016_08_12:C567456|OMIM2016_04_17:157145|OMIM2016_04_17:611928 C0544755 Genu varum Bandy legged | Bow Leg | Bow Legs | Bow leg | Bow legged | Bow legs | Bow-leggedness | Bowed Legs | Bowed legs | Bowed lower limbs | Bowing | Bowing of leg | Bowing of leg (finding) | Bowing of legs | Bowing of lower extremities | Bowing of lower limbs | Bowing of the legs | Bowing of the lower extremities | Bowleg | GENU VARUM | Genu Varum | Genu Varum [Disease/Finding] | Genu Varus | Genu vara | Genu varum | Genu varus | Genua vara | Knee joint - varus deformity | Knee joint - varus deformity (finding) | Knee joint varus deformity | Knee joint varus deformity (finding) | LOWER EXTREMITY BOWED | Leg, Bow | Legs bowed | Legs, Bow | Lower limb bowing | bandy leg | bandy legged | bandy legs | bow leg | bow legged | bow legs | bowed leg | bowed legs | bowing legs | bowing of leg | bowing of lower leg | bowing of lower leg (physical finding) | bowleg | bowlegs | genu varum | genu varum (physical finding) | genu varus | genu; varum | varum; genu HPO2016_07_04:A bending or abnormal curvature affecting a long bone of the leg. [HPO:probinson] | HPO2016_07_04:A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. [HPO:probinson] | MSH2017_2016_08_12:An outward slant of the thigh in which the knees are wide apart and the ankles close together. Genu varum can develop due to skeletal and joint dysplasia (e.g., OSTEOARTHRITIS; Blount's disease); and malnutrition (e.g., RICKETS; FLUORIDE POISONING). | NCI2016_02D:A deformity of the legs characterized by medial angulation, resulting in a bow appearance. HPO2016_07_04:HP:0002970|HPO2016_07_04:HP:0002979|ICD10CM_2017:M21.16|MSH2017_2016_08_12:D056305|OMIM2016_04_17:MTHU000042|OMIM2016_04_17:MTHU034733|OMIM2016_04_17:MTHU036344|OMIM2016_04_17:MTHU036480|OMIM2016_04_17:MTHU036874|OMIM2016_04_17:MTHU036875|OMIM2016_04_17:MTHU037076|OMIM2016_04_17:MTHU037544|OMIM2016_04_17:MTHU037545|OMIM2016_04_17:MTHU037715|OMIM2016_04_17:MTHU038956|OMIM2016_04_17:MTHU039195|OMIM2016_04_17:MTHU049125|SNOMEDCT_US_2016_09_01:157008000|SNOMEDCT_US_2016_09_01:249782009|SNOMEDCT_US_2016_09_01:268352002|SNOMEDCT_US_2016_09_01:299331007 C2675488 Mental retardation, autosomal dominant 3 MENTAL RETARDATION, AUTOSOMAL DOMINANT 3 | MRD3 | Mental Retardation, Autosomal Dominant 3 MSH2017_2016_08_12:C567241|OMIM2016_04_17:114019|OMIM2016_04_17:612580 C0746840 Nephropathy salt wasting NEPHROPATHY SALT WASTING | nephropathies salt wasting | nephropathy salt wasting | salt wasting nephropathy C0393683 Epilepsies, supplementary motor Epilepsies, Supplementary Motor | Epilepsy, Supplementary Motor | Motor Epilepsies, Supplementary | Supplementary Motor Epilepsies | Supplementary Motor Epilepsy | Supplementary motor epilepsy | Supplementary motor epilepsy (disorder) MSH2017_2016_08_12:D017034|SNOMEDCT_US_2016_09_01:230395007 C0153203 Gonococcal prostatitis specified as chronic Chronic gonococcal prostatitis | Chronic gonococcal prostatitis (disorder) | Gonococcal prostatitis specified as chronic | Gonococcal prostatitis, chronic | chronic gonococcal prostatitis | chronic gonococcal prostatitis (diagnosis) ICD9CM_2014:098.32|SNOMEDCT_US_2016_09_01:60893000 C0005684 Malignant neoplasm of urinary bladder BLADDER CANCER | BLADDER CANCER MALIGNANT | Bladder Ca | Bladder Cancer | Bladder Cancers | Bladder cancer | Bladder cancer NOS | Bladder neoplasms malignant | Bladder--Cancer | CA - Bladder cancer | Ca bladder | Cancer of Bladder | Cancer of bladder | Cancer of the Bladder | Cancer, Bladder | Cancer, Urinary Bladder | Malig neop bladder NOS | Malignant Bladder Neoplasm | Malignant Bladder Tumor | Malignant Neoplasm of Bladder | Malignant Neoplasm of Urinary Bladder | Malignant Neoplasm of the Bladder | Malignant Neoplasm of the Urinary Bladder | Malignant Neoplasm, Bladder | Malignant Neoplasm, Urinary Bladder | Malignant Tumor of Bladder | Malignant Tumor of Urinary Bladder | Malignant Tumor of the Bladder | Malignant Tumor of the Urinary Bladder | Malignant Tumor, Urinary Bladder | Malignant Urinary Bladder Neoplasm | Malignant Urinary Bladder Tumor | Malignant neoplasm of bladder | Malignant neoplasm of bladder, NOS | Malignant neoplasm of bladder, part unspecified | Malignant neoplasm of bladder, unspecified | Malignant neoplasm of urinary bladder | Malignant neoplasm of urinary bladder NOS | Malignant neoplasm of urinary bladder NOS (disorder) | Malignant tumor of urinary bladder | Malignant tumor of urinary bladder (disorder) | Malignant tumour of urinary bladder | Neoplasm malig;bladder | Urinary Bladder Cancer | Urinary Bladder Malignant Neoplasm | Urinary Bladder Malignant Tumor | bladder ca | bladder cancer | bladder cancer (diagnosis) | bladder cancers | cancer of bladder | cancer of the bladder | malignant neoplasm of bladder | malignant neoplasm of bladder (diagnosis) | malignant neosplasm of the bladder | malignant tumor of bladder | urinary bladder cancer MEDLINEPLUS_20151021:The bladder is a hollow organ in your lower abdomen that stores urine. Bladder cancer occurs in the lining of the bladder. It is the sixth most common type of cancer in the United States.
Symptoms include
Risk factors for developing bladder cancer include smoking and exposure to certain chemicals in the workplace. People with a family history of bladder cancer or who are older, white, or male have a higher risk.
Treatments for bladder cancer include surgery, radiation therapy, chemotherapy, and biologic therapy. Biologic therapy boosts your body's own ability to fight cancer.
NIH: National Cancer Institute
| NCI2016_02D:A primary or metastatic malignant neoplasm involving the bladder. ICD10CM_2017:C67|ICD10CM_2017:C67.9|ICD9CM_2014:188|ICD9CM_2014:188.9|MSH2017_2016_08_12:D001749|OMIM2016_04_17:109800|OMIM2016_04_17:MTHU051694|SNOMEDCT_US_2016_09_01:154540000|SNOMEDCT_US_2016_09_01:188248005|SNOMEDCT_US_2016_09_01:269607003|SNOMEDCT_US_2016_09_01:363455001|SNOMEDCT_US_2016_09_01:399326009|SNOMEDCT_US_2016_09_01:93689003 C4024349 Triangular shaped proximal phalanx of the 3rd finger Triangular shaped innermost bone of middle finger | Triangular shaped proximal phalanx of the 3rd finger HPO2016_07_04:Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators] HPO2016_07_04:HP:0009456 C0393675 Benign occipital epilepsy, childhood BCEOP - Benign childhood epilepsy with occipital paroxysms | Benign Occipital Epilepsy, Childhood | Benign occipital epilepsy of childhood | Childhood Benign Occipital Epilepsy | Childhood epilepsy with occipital paroxysms | Childhood epilepsy with occipital paroxysms (disorder) MSH2017_2016_08_12:D004828|SNOMEDCT_US_2016_09_01:230386004 C2931653 Petty laxova wiedemann syndrome Petty Laxova Wiedemann syndrome MSH2017_2016_08_12:C537886 C0158734 Polydactyly of toes Accessory digit of foot | Accessory toe | Accessory toe(s) | Accessory toes | Duplication of bones of the toes | Extra toe | Foot polydactyly | Polydactyly of feet | Polydactyly of foot | Polydactyly of the foot | Polydactyly of toes | Polydactyly of toes (disorder) | Supernumerary digit of foot | accessory; toes | extra toe | extra toes | extra; toe | multiple; digits, toes (congenital) | polydactyly of toe | polydactyly of toe (physical finding) | polydactyly of toes | polydactyly of toes (diagnosis) | polydactyly toe | polydactyly; toes | toe (toes); accessory | toe (toes); multiple | toe (toes); polydactyly | toe (toes); supernumerary HPO2016_07_04:A kind of polydactyly characterized by the presence of a supernumerary toe or toes. [HPO:probinson] HPO2016_07_04:HP:0001829|ICD10CM_2017:Q69.2|ICD9CM_2014:755.02|SNOMEDCT_US_2016_09_01:62218008 C0268263 Multiple sulfatase deficiency disease Austin syndrome | Juvenile sulfatidosis, Austin type | Juvenile sulphatidosis Austin type | MSD | MUCOSULFATIDOSIS | MULTIPLE SULFATASE DEFICIENCY | Mucosulfatidosis | Mucosulphatidosis | Multiple Sulfatase Deficiencies | Multiple Sulfatase Deficiency | Multiple Sulfatase Deficiency Disease | Multiple Sulfatase Deficiency Disease [Disease/Finding] | Multiple Sulphatase Deficiency Disease | Multiple sulfatase deficiency | Multiple sulfatase deficiency (disorder) | Multiple sulfatase deficiency, NOS | Multiple sulphatase deficiency | Multiple sulphatase deficiency (disorder) | SULFATIDOSIS, JUVENILE, AUSTIN TYPE | juvenile sulfatidosis | mucosulfatidosis | multiple sulfatase deficiency | multiple sulfatase deficiency (MSD) | multiple sulphatase deficiency JABL99:A syndrome combining the characteristics of metachromatic leukodystrophy and mucopolysaccharidosis, marked by multiple sulfatase deficiency associated with ichthyosis, dysostosis multiplex, psychomotor retardation, and coarse facies. | MSH2017_2016_08_12:An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid. | NCI2016_02D:A rare autosomal recessive lysosomal storage disease caused by mutations in SUMF1 gene. It is characterized by deficiency of all sulfatase enzymes. Signs and symptoms include neurologic damage, mental retardation, skeletal abnormalities, hepatosplenomegaly, and ichthyosis. MSH2017_2016_08_12:D052517|OMIM2016_04_17:272200|OMIM2016_04_17:607939|SNOMEDCT_US_2016_09_01:254076009|SNOMEDCT_US_2016_09_01:54898003 C1696469 Shin splints Medial Tibial Stress Syndrome | Medial Tibial Stress Syndrome (MTSS) | Medial Tibial Stress Syndrome [Disease/Finding] | Medial tibial stress syndrome | SHIN SPLINTS | Shin Splint | Shin Splints | Shin splints | injury shin splints | shin splint | shin splint (diagnosis) | shin splint injury | shin splints | splints shin MSH2017_2016_08_12:SKELETAL MUSCLE pain and tenderness along the posteromedial TIBIA resulting from exercise such as running and other physical activity. MSH2017_2016_08_12:D058923 C0406647 Pemphigus vegetans of neumann type Pemphigus vegetans (Neumann type) | Pemphigus vegetans of Neumann type | Pemphigus vegetans of Neumann type (disorder) SNOMEDCT_US_2016_09_01:238937005 C3647099 Maternal exhaustion complicating labor and delivery Maternal exhaustion complicating labor and delivery | Maternal exhaustion complicating labor and delivery (diagnosis) | parturition complication maternal exhaustion complicating labor and delivery ICD10CM_2017:O75.81 C0003126 Anosmia ANOSMIA | Absent sense of smell | Absent smell | Anosmia | Anosmia (loss of sense of smell) | Anosmia - loss of smell sense | Loss (of);smell | Loss of sense of smell | Loss of sense of smell (finding) | Loss of smell | Loss of the sense of smell | No sense of smell | SMELL LOSS | Sense of smell absent | Sense of smell lost | Sense of smell, absent | Smell loss | Smell, absent | [D]Anosmia | [D]Anosmia (context-dependent category) | [D]Anosmia (situation) | anosmia | anosmia (diagnosis) | anosmia as symptom | anosmias | anosphrasia | loss of sense of smell | loss of sense of smell (symptom) | loss of smell | loss sense smell | loss smell | loss; smell | loss; smell, complete (anosmia) | lost sense of smell | no sense of smell | sense of smell lost | sense of smell lost (anosmia) | sense smell | smell loss | smell sense | smell; loss | smell; loss, complete (anosmia) CSP2006:absence of the sense of smell. | HPO2016_07_04:An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. [HPO:probinson] | MSH2017_2016_08_12:Absence of the sense of smell. (Dorland, 27th ed) | NCI2016_02D:Inability to smell. | NCI2016_NICHD_1602D:Inability to smell. | PSY2004:Loss of the sense of smell. HPO2016_07_04:HP:0000458|ICD10CM_2017:R43.0|MSH2017_2016_08_12:D000857|OMIM2016_04_17:301700|OMIM2016_04_17:MTHU001812|SNOMEDCT_US_2016_09_01:139523002|SNOMEDCT_US_2016_09_01:158191003|SNOMEDCT_US_2016_09_01:162254006|SNOMEDCT_US_2016_09_01:206813000|SNOMEDCT_US_2016_09_01:230501005|SNOMEDCT_US_2016_09_01:44169009 C0457133 Muscle eye brain disease MEB (Muscle-Eye-Brain) Syndrome | Muscle Eye Brain Disease | Muscle eye brain disease | Muscle eye brain disease (disorder) | Muscle-Eye-Brain Disease | Muscle-Eye-Brain Diseases | Santavuori syndrome | muscle eye brain disease | muscle-eye-brain (MEB) disease | muscle-eye-brain disease | muscle-eye-brain syndrome | muscle-eye-brain syndrome (MEBS) | santavuori syndrome JABL99:A pachygyria-polymicrogyria syndrome with many features overlapping those of Walker-Warburg and cerebro-oculo-muscular syndromes. The phenotype consists of congenital brain abnormalities, mainly type II or hydrocephalic lissencephaly (smoothness of the brain) and polymicrogyria (development of numerous small convolutions of the brain) in association with muscular dystrophy, ocular defects with visual failure, mental retardation, hydrocephalus, and other defects. MSH2017_2016_08_12:D058494|SNOMEDCT_US_2016_09_01:277950001 C3553302 Keratoconus 5 KERATOCONUS 5 | KTCN5 OMIM2016_04_17:614622 C0410238 Infective myositis-foot Infective myositis of foot | Infective myositis of foot (disorder) | Infective myositis-foot | Infective myositis-foot (disorder) | infective myositis foot | infective myositis foot (diagnosis) SNOMEDCT_US_2016_09_01:203018002 C0221054 Welander distal myopathy Distal 1 Myopathies | Distal 1 Myopathy | Distal Myopathy 1 | Distal Myopathy 1s | Distal Myopathy, Laing | Distal Myopathy, Welander | GOWERS MUSCULAR DYSTROPHY | Gower's muscular dystrophy | Gower's muscular dystrophy (diagnosis) | Gowers; dystrophy | Gowers; muscular dystrophy | LAING DISTAL MYOPATHY | Laing Distal Myopathy | Laing Early Onset Distal Myopathy | Laing Early-Onset Distal Myopathy | MPD1 | MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT | MYOPATHY, DISTAL, 1 | MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | MYOPATHY, DISTAL, SWEDISH | MYOPATHY, LATE DISTAL HEREDITARY | Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant | Muscular dystrophy, Gower's | Myopathia distalis tarda hereditaria | Myopathies, Distal 1 | Myopathy 1, Distal | Myopathy 1s, Distal | Myopathy, Distal 1 | Myopathy, Distal, Early-Onset, Autosomal Dominant | Myopathy, Distal, Swedish | Myopathy, Laing Distal | Myopathy, Late Distal Hereditary | Progressive muscular dystrophy, Gower's type | Progressive muscular dystrophy, late distal type | WDM | WELANDER DISTAL MYOPATHY | Welander Distal Myopathy | Welander distal myopathy | Wielander's distal dystrophy | dystrophy; Gowers | dystrophy; muscular, Gowers | muscular; dystrophy, Gowers | progressive muscular dystrophy (Gower's) MSH2017_2016_08_12:D049310|OMIM2016_04_17:160500|OMIM2016_04_17:160760|OMIM2016_04_17:603518|OMIM2016_04_17:604454|SNOMEDCT_US_2016_09_01:58795000 C1865695 Spondylometaphyseal dysplasia, axial AXIAL SMD | Axial SMD | SMD, AXIAL | SMD, Axial | SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL | Spondylometaphyseal dysplasia, axial MSH2017_2016_08_12:C535795|OMIM2016_04_17:602271 C0153641 Malignant neoplasm of brain stem Malig neop brainstem NOS | Malignant Brain Stem Neoplasm | Malignant Brain Stem Tumor | Malignant Brainstem Neoplasm | Malignant Brainstem Tumor | Malignant Neoplasm of Brain Stem | Malignant Neoplasm of Brainstem | Malignant Neoplasm of the Brain Stem | Malignant Neoplasm of the Brainstem | Malignant Tumor of Brain Stem | Malignant Tumor of Brainstem | Malignant Tumor of the Brain Stem | Malignant Tumor of the Brainstem | Malignant neoplasm of brain stem | Malignant neoplasm of brainstem | Malignant neoplasm of brainstem (disorder) | Malignant neoplasm of brainstem NOS | Malignant neoplasm of brainstem NOS (disorder) NCI2016_02D:A primary or metastatic malignant neoplasm that affects the brain stem. ICD10CM_2017:C71.7|ICD9CM_2014:191.7|SNOMEDCT_US_2016_09_01:154549004|SNOMEDCT_US_2016_09_01:188299003|SNOMEDCT_US_2016_09_01:363473003|SNOMEDCT_US_2016_09_01:93726004 C4014507 Nephrotic syndrome, type 10 NEPHROTIC SYNDROME, TYPE 10 | NPHS10 OMIM2016_04_17:602334|OMIM2016_04_17:615861 C1969144 Renal cortical cysts Cortical cysts | Renal cortical cysts | Venal cortical cysts HPO2016_07_04:Cysts of the cortex of the kidney. [Eurenomics:fschaefer] HPO2016_07_04:HP:0000803|OMIM2016_04_17:MTHU020097|OMIM2016_04_17:MTHU031757 C3151482 Hypercalciuria, childhood, self-limiting HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING OMIM2016_04_17:248250|OMIM2016_04_17:603959 C1846821 Coagulation abnormalities Abnormal blood clotting | Abnormal blood coagulation studies | Abnormality of coagulation | Coagulation abnormalities | Coagulation abnormality HPO2016_07_04:An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. [HPO:probinson] HPO2016_07_04:HP:0001928|OMIM2016_04_17:MTHU003652 C1861099 Absence of tibia with polydactyly Absence of tibia with polydactyly | Polydactyly with absent tibia | Tibia, Absence of, with Polydactyly MSH2017_2016_08_12:C535564 C4225413 Myasthenic syndrome, congenital, 4a, slow-channel CMS Ia1, FORMERLY | CMS1A1, FORMERLY | CMS4A | CONGENITAL MYASTHENIC SYNDROME TYPE Ia1, FORMERLY | MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL OMIM2016_04_17:100725|OMIM2016_04_17:605809 C0684324 Deficiency of phosphoglycerate kinase Deficiency of phosphoglycerate kinase | Deficiency of phosphoglycerate kinase (disorder) | PGK deficiency | erythrocyte phosphoglycerate kinase deficiency | phosphoglycerate kinase (PGK) deficiency | phosphoglycerate kinase deficiency | phosphoglycerate kinase deficiency hereditary non-spherocytic anemia | red cell phosphoglycerate kinase deficiency CSP2006:X linked trait causing hemolytic anemia, mental retardation and behavioral and neurologic abnormalities. | JABL99:Phosphoglycerate kinase (E.C. 2.7.2.3) deficiency with chronic nonspherocytic hemolytic anemia and variable neurologic and myopathic features in males or occasional hemolysis without any neurological complications. Variability of expression is believed to be due to biochemical properties of PKG variants. SNOMEDCT_US_2016_09_01:124335006 C1845095 Deafness, x-linked 5 (disorder) AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | AUNX1 | Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy | DEAFNESS, X-LINKED 5 | DEAFNESS, X-LINKED 5 (disorder) | DFNX5 | Deafness, X-Linked 5 MSH2017_2016_08_12:C564472|OMIM2016_04_17:300169|OMIM2016_04_17:300614 C0232196 Pacemaker malfunction Cardiac pacemaker malfunction | Cardiac pacemker malfunction | Malfunction from artificial pacing | Malfunction from artificial pacing (finding) | Malfunction from artificial pacing, NOS | Malfunction of cardiac pacemaker | Malfunction of cardiac pacemaker (disorder) | PACEMAKER MALFUNCTION | malfunction pacemaker | malfunction; cardiac pacemaker | malfunction; pacemaker | pacemaker malfunction SNOMEDCT_US_2016_09_01:40669004|SNOMEDCT_US_2016_09_01:432355004 C3281297 Deafness, autosomal dominant 4b DEAFNESS, AUTOSOMAL DOMINANT 4B | DFNA4B OMIM2016_04_17:614614 C0559751 Hematuria recurrent HEMATURIA RECURRENT | Recurrent haematuria | Recurrent hematuria | Recurrent hematuria (disorder) SNOMEDCT_US_2016_09_01:281860005 C3554374 Dystonia 24 DYSTONIA 24 | DYT24 OMIM2016_04_17:610110|OMIM2016_04_17:615034 C0391820 Nephropathy gouty GOUT, RENAL DISEASE | Gouty Nephropathy | Gouty kidney disease | Gouty nephropathy | Gouty nephropathy NOS | Gouty nephropathy NOS (disorder) | Gouty nephropathy unspecified | Gouty nephropathy unspecified (disorder) | Gouty nephropathy, unspecified | Gouty renal disease | NEPHROPATHY GOUTY | gouty nephropathy | gouty nephropathy (diagnosis) ICD9CM_2014:274.1|ICD9CM_2014:274.10|SNOMEDCT_US_2016_09_01:190829000|SNOMEDCT_US_2016_09_01:190830005|SNOMEDCT_US_2016_09_01:190832002 C4280578 Grey eyelashes Grey eyelashes HPO2016_07_04:HP:0002227 C2750452 Waardenburg syndrome, type 4c WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C | WAARDENBURG SYNDROME, TYPE 4C | WAARDENBURG SYNDROME, TYPE IVC | WS4C | Waardenburg Syndrome With Hirschsprung Disease, Type 4c Waardenburg Syndrome, Type Ivc | Waardenburg Syndrome, Type 4c MSH2017_2016_08_12:C567679|OMIM2016_04_17:602229|OMIM2016_04_17:613266 C1842763 Spondyloenchondrodysplasia with immune dysregulation COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia | ROIFMAN IMMUNOSKELETAL SYNDROME | Roifman-Costa syndrome | Roifman-Melamed syndrome | SPENCDI | SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION | Spondyloenchondrodysplasia with Immune Dysregulation | Spondyloenchondrodysplasia with immune dysregulation | Spondyloenchondrodysplasia with immune dysregulation (disorder) MSH2017_2016_08_12:C564307|OMIM2016_04_17:171640|OMIM2016_04_17:607944|SNOMEDCT_US_2016_09_01:703523004 C1336709 Granulosa cell neoplasm of testis Granulosa Cell Neoplasm of Testis | Granulosa Cell Neoplasm of the Testis | Granulosa Cell Tumor of Testis | Granulosa Cell Tumor of the Testis | Testicular Granulosa Cell Neoplasm | Testicular Granulosa Cell Tumor NCI2016_02D:A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile. C0001247 Actinobacillosis, nos Actinobacilloses | Actinobacillosis | Actinobacillosis [Disease/Finding] | Actinobacillosis, NOS | actinobacillosis MSH2017_2016_08_12:A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs. MSH2017_2016_08_12:D000187|SNOMEDCT_US_2016_09_01:16140007 C0751267 Encephalopathy, subacute necrotizing, infantile Encephalopathy, Subacute Necrotizing, Infantile | Infantile Leigh Disease | Infantile Subacute Necrotizing Encephalopathy | Leigh Disease, Infantile | Subacute Necrotizing Encephalomyelitis, Infantile | Subacute Necrotizing Encephalopathy, Infantile MSH2017_2016_08_12:D007888 C3151039 Cardiomyopathy, dilated, 1t CARDIOMYOPATHY, DILATED, 1T | CMD1T | Cardiomyopathy, Dilated, 1t MSH2017_2016_08_12:C566052|OMIM2016_04_17:613740 C1836525 White mater abnormalities in the posterior periventricular region White mater abnormalities in the posterior periventricular region HPO2016_07_04:HP:0006812|OMIM2016_04_17:MTHU001037 C1837483 Posterior rib cupping Anterior and posterior rib cupping | Posterior rib cupping HPO2016_07_04:Wide, concave posterior rib end. [HPO:probinson] HPO2016_07_04:HP:0000922|OMIM2016_04_17:MTHU001795|OMIM2016_04_17:MTHU013035 C1846862 Parkinson disease 8 (disorder) PARK8 | PARKINSON DISEASE 8 (disorder) | PARKINSON DISEASE 8, AUTOSOMAL DOMINANT OMIM2016_04_17:607060|OMIM2016_04_17:609007 C0018934 Hematocolpos HEMATOCOLPOS | Haematocolpos | Haematocolpos (disorder) | Hematocolpos | Hematocolpos (finding) | Hematocolpos [Disease/Finding] | Menstruation, retained | Retained menstruation | Retained menstruation (disorder) | Retained menstruation (finding) | hematocolpos | hematocolpos (diagnosis) | retained menstrual bleeding | retained menstrual bleeding (diagnosis) MSH2017_2016_08_12:A blood-filled VAGINA that is obstructed. ICD10CM_2017:N89.7|MSH2017_2016_08_12:D006399|SNOMEDCT_US_2016_09_01:10603009|SNOMEDCT_US_2016_09_01:198475004|SNOMEDCT_US_2016_09_01:26228000 C0034013 Precocious puberty (Sexual precocity NOS) or (puberty - precocious) | (Sexual precocity NOS) or (puberty - precocious) (disorder) | ACCELERATED SEXUAL MATURITY | Accelerated sexual maturation | Accelerated sexual maturity | Early onset of puberty | Early puberty | MATURATION SEX ACCELERATED | Maturation sex accelerated | PRECOCIOUS PUBERTY | PUBERTY PRECOCIOUS | Precocious Puberty | Precocious puberty | Precocious puberty (disorder) | Precocious puberty NOS | Precocious sexual development | Precocious sexual development (disorder) | Precocious true puberty | Premature puberty | Pubertas praecox | Puberty - precocious | Puberty precocious | Puberty, Precocious | Puberty, Precocious [Disease/Finding] | Puberty;precocious | SEXUAL PRECOCITY | Sexual Precocity | Sexual precocity | Sexual precocity NOS | Sexual precocity, NOS | True precocious puberty | early puberty | precocious puberty | precocious puberty (diagnosis) | precocious sexual development | precocious; puberty | premature puberty | premature; puberty | pubertas praecox | puberty early | puberty precocious | puberty; precocious | puberty; premature | sexual precocity | true precocious puberty CSP2006:unusually early sexual maturity. | HPO2016_07_04:The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. [HPO:probinson] | MSH2017_2016_08_12:Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE. | NCI2016_02D:Unusually early sexual maturity. | NCI2016_CTCAE_1602D:A disorder characterized by unusually early development of secondary sexual features; the onset of sexual maturation begins usually before age 8 for girls and before age 9 for boys. | NCI2016_NICHD_1602D:Onset of sexual development, before the age of 8 years in females and before the age of 9 years in males. HPO2016_07_04:HP:0000826|ICD10CM_2017:E30.1|MSH2017_2016_08_12:D011629|OMIM2016_04_17:MTHU037101|OMIM2016_04_17:MTHU037272|OMIM2016_04_17:MTHU038086|SNOMEDCT_US_2016_09_01:123527003|SNOMEDCT_US_2016_09_01:154716006|SNOMEDCT_US_2016_09_01:190575003|SNOMEDCT_US_2016_09_01:190576002|SNOMEDCT_US_2016_09_01:267488008|SNOMEDCT_US_2016_09_01:400179000|SNOMEDCT_US_2016_09_01:70387004 C1168198 Recurrent respiratory papillomatosis Juvenile laryngeal papilloma | Juvenile-onset recurrent respiratory papillomatosis | Laryngeal papilloma, recurrent | Recurrent respiratory papillomatosis | Recurrent respiratory papillomatosis (diagnosis) | Recurrent respiratory papillomatosis (disorder) | Respiratory papillomatosis | benign neoplasm respiratory system recurrent papillomatosis | respiratory papillomatosis MSH2017_2016_08_12:C535297|SNOMEDCT_US_2016_09_01:472827002 C2228883 Mckenzie postural syndrome McKenzie postural syndrome | McKenzie postural syndrome (diagnosis) C0015530 Factor xiii deficiency Deficiencies, Factor XIII | Deficiency of factor XIII | Deficiency, Factor XIII | Deficiency, Laki-Lorand factor | Deficiency, factor XIII | FACTOR XIII DEFICIENCY, CONGENITAL | FIBRIN STABILIZING FACTOR DEFICIENCY, CONGENITAL | FIBRINASE DEFICIENCY, CONGENITAL | Factor XIII Deficiencies | Factor XIII Deficiency | Factor XIII Deficiency [Disease/Finding] | Factor XIII deficiency | Factor XIII deficiency disease | Factor XIII deficiency disease (disorder) | Factor XIII deficiency disease, NOS | Fibrin stabilising factor deficiency | Fibrin stabilizing factor deficiency | Hereditary Factor XIII Deficiency | Hereditary Factor XIII Deficiency Disease | Hereditary Fibrin Stabilizing Factor Deficiency | Hereditary factor XIII deficiency disease | Hereditary factor XIII deficiency disease (disorder) | LAKI-LORAND FACTOR DEFICIENCY, CONGENITAL | Laki-Lorand factor deficiency disease | deficiency; fibrin-stabilizing factor | factor XIII deficiency | factor XIII deficiency (diagnosis) | fibrin; stabilizing factor deficiency MSH2017_2016_08_12:A deficiency of blood coagulation FACTOR XIII or fibrin stabilizing factor (FSF) that prevents blood clot formation and results in a clinical hemorrhagic diathesis. | NCI2016_02D:A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor XIII, resulting in bleeding. MSH2017_2016_08_12:D005177|OMIM2016_04_17:MTHU024460|SNOMEDCT_US_2016_09_01:18604004|SNOMEDCT_US_2016_09_01:50189006 C1853202 Parkinson disease 13, autosomal dominant, susceptibility to PARK13 | PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO OMIM2016_04_17:606441|OMIM2016_04_17:610297 C1306597 Psych problem PSYCH PROBLEM | PSYCHIATRIC PROBLEM | PSYCHIATRIC PROBLEM, NOS | PSYCHOLOGICAL | Psyche | Psychiatric problem | Psychiatric problems | problem; psychiatric | problems psychiatric | psych | psychiatric problem | psychiatric; problem | psychological C0017563 Gingival diseases Disease, Gingival | Disease;gums | Diseases, Gingival | GINGIVAL DISEASE | Gingival Disease | Gingival Diseases | Gingival Diseases [Disease/Finding] | Gingival disease | Gingival disease (disorder) | Gingival disease, NOS | Gingival disorder | Gingival disorder NOS | Gingival disorder, NOS | Gum Disease | Gum disease | Gum disease, NOS | Gum disorder | Gums--Diseases | disease (or disorder); gingiva | disease (or disorder); gum | gingiva disorder | gingival disease | gingival diseases | gum disease | gum disorder | parodontosis | periodontal disease | periodontal diseases CSP2006:condition in which there is a deviation from or interruption of the normal structure or function of the gums or gingiva. | MEDLINEPLUS_20151021:If you have gum disease, you're not alone. Many U.S. adults currently have some form of the disease. It ranges from simple gum inflammation, called gingivitis, to serious damage to the tissue and bone supporting the teeth. In the worst cases, you can lose teeth.
In gingivitis, the gums become red and swollen. They can bleed easily. Gingivitis is a mild form of gum disease. You can usually reverse it with daily brushing and flossing and regular cleanings by a dentist or dental hygienist. Untreated gingivitis can lead to periodontitis. If you have periodontitis, the gums pull away from the teeth and form pockets that become infected. If not treated, the bones, gums and connective tissue that support the teeth are destroyed.
NIH: National Institute of Dental and Craniofacial Research
| MSH2017_2016_08_12:Diseases involving the GINGIVA. HPO2016_07_04:HP:0000704|MSH2017_2016_08_12:D005882|SNOMEDCT_US_2016_09_01:155642009|SNOMEDCT_US_2016_09_01:18718003|SNOMEDCT_US_2016_09_01:266489007 C0162834 Hyperpigmentation Cutaneous hyperpigmentation | Dermal hyperpigmentation | HYPERPIGMENTATION | HYPERPIGMENTATION SKIN | Hypermelanoses | Hypermelanosis | Hyperpigmentation | Hyperpigmentation (morphologic abnormality) | Hyperpigmentation [Disease/Finding] | Hyperpigmentation disorder | Hyperpigmentation disorder (disorder) | Hyperpigmentation disorders | Hyperpigmentation of skin | Hyperpigmentation of skin (disorder) | Hyperpigmentation of skin, NOS | Hyperpigmentation of the skin | Hyperpigmentation skin | Hyperpigmentation, NOS | Hyperpigmented skin | Increased skin pigmentation | SKIN HYPERPIGMENTATION | SKIN PIGMENTATION INCREASE | Skin Hyperpigmentation | Skin hyperpigmentation | hypermelanosis | hyperpigmentation | hyperpigmentation of skin | skin hyperpigmentation CHV2011_02:the increase in the natural color of the skin | HPO2016_07_04:A darkening of the skin related to an increase in melanin production and deposition. [HPO:probinson] | MSH2017_2016_08_12:Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance. | NCI2016_02D:Darkening of the skin due to excessive melanin deposition. Causes include skin injuries, pregnancy, eczema, and Addison disease. | NCI2016_CTCAE_1602D:A disorder characterized by darkening of the skin due to excessive melanin deposition. | NCI2016_NICHD_1602D:Abnormal darkening of the skin. HPO2016_07_04:HP:0000953|MSH2017_2016_08_12:D017495|OMIM2016_04_17:MTHU001136|OMIM2016_04_17:MTHU016089|OMIM2016_04_17:MTHU016138|SNOMEDCT_US_2016_09_01:156432006|SNOMEDCT_US_2016_09_01:156435008|SNOMEDCT_US_2016_09_01:267869006|SNOMEDCT_US_2016_09_01:4830009|SNOMEDCT_US_2016_09_01:49765009 C0375275 Occlusion and stenosis of carotid artery without mention of cerebral infarction Occlusion and stenosis of carotid artery without mention of cerebral infarction ICD9CM_2014:433.10 C0233757 Psychogenic vomiting nos Functional vomiting | Hysterical vomiting | Psychogenic vomiting | Psychogenic vomiting (disorder) | Psychogenic vomiting (finding) | Psychogenic vomiting NOS | Psychogenic vomiting NOS (disorder) | Psychogenic vomiting NOS (finding) | Vomiting psychogenic | Vomiting, psychogenic | hysterical; vomiting | psychogenic vomiting | psychogenic vomiting (diagnosis) | vomiting; hysterical ICD9CM_2014:307.54|SNOMEDCT_US_2016_09_01:154923002|SNOMEDCT_US_2016_09_01:192015007|SNOMEDCT_US_2016_09_01:268772005|SNOMEDCT_US_2016_09_01:37224001|SNOMEDCT_US_2016_09_01:416604007 C0014852 Esophageal diseases DISEASES OF ESOPHAGUS | DISEASES OF OESOPHAGUS | DISEASES OF THE ESOPHAGUS | Disease of esophagus | Disease of esophagus (disorder) | Disease of esophagus, NOS | Disease of esophagus, unspecified | Disease of oesophagus | Disease of oesophagus, NOS | Disease of oesophagus, unspecified | Disease, Esophageal | Disease;oesophageal | Diseases of esophagus | Diseases of esophagus NOS | Diseases of esophagus NOS (disorder) | Diseases of oesophagus | Diseases of oesophagus NOS | Diseases of oesophagus NOS (disorder) | Diseases, Esophageal | Disorder of esophagus | Disorder of esophagus (disorder) | Disorder of esophagus, NOS | Disorder of oesophagus | Disorder of oesophagus, NOS | ESOPHAGEAL | ESOPHAGEAL DISORDER | ESOPHAGEAL DYSFUNCTION | Esophageal Disease | Esophageal Diseases | Esophageal Diseases [Disease/Finding] | Esophageal Disorder | Esophageal disease | Esophageal disease NOS | Esophageal diseases | Esophageal disorder | Esophageal disorder NOS | Esophageal disorders | Esophagus | Esophagus Disorders | Esophagus disease | Esophagus--Diseases | Oesophageal disease NOS | Oesophageal diseases | Oesophageal disorder | Oesophageal disorder NOS | Oesophagus disease | Unspecified disorder of esophagus | Unspecified disorder of oesophagus | disease esophagus | disease oesophagus | disease of esophagus | disease of oesophagus | diseases disorders esophagus | diseases esophagus | diseases of esophagus | diseases of oesophagus | diseases of the esophagus | disorders esophagus | disorders oesophageal | esophageal disease | esophageal diseases | esophageal disorder | esophageal disorders | esophageal disorders (diagnosis) | esophageal dysfunction | esophagus disease | esophagus diseases | esophagus disorder | esophagus; disease | oesophageal disease CSP2006:disorder of the esophagus, the portion of the digestive canal between the pharynx and stomach. | MEDLINEPLUS_20151021:The esophagus is the tube that carries food, liquids and saliva from your mouth to the stomach. You may not be aware of your esophagus until you swallow something too large, too hot or too cold. You may also become aware of it when something is wrong.
The most common problem with the esophagus is gastroesophageal reflux disease (GERD). It happens when a band of muscle at the end of your esophagus does not close properly. This allows stomach contents to leak back, or reflux, into the esophagus and irritate it. Over time, GERD can cause damage to the esophagus. Other problems include heartburn and cancer.
Treatment depends on the problem. Some get better with over-the-counter medicines or changes in diet. Others may need prescription medicines or surgery.
| MSH2017_2016_08_12:Pathological processes in the ESOPHAGUS. | NCI2016_02D:A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas. ICD10CM_2017:K22.9|ICD9CM_2014:530|ICD9CM_2014:530.9|MSH2017_2016_08_12:D004935|SNOMEDCT_US_2016_09_01:155671005|SNOMEDCT_US_2016_09_01:155680005|SNOMEDCT_US_2016_09_01:196626000|SNOMEDCT_US_2016_09_01:266497000|SNOMEDCT_US_2016_09_01:37657006 C1835933 Glaucoma 1, open angle, g GLAUCOMA 1, OPEN ANGLE, G | GLC1G | Glaucoma 1, Open Angle, G MSH2017_2016_08_12:C563692|OMIM2016_04_17:609669|OMIM2016_04_17:609887 C0855139 Monocytoid b-cell lymphoma B-cell; lymphoma, monocytoid | Monocytoid B-Cell Lymphoma | Monocytoid B-cell lymphoma | Monocytoid B-cell lymphoma (diagnosis) | Monocytoid B-cell lymphoma (disorder) | Monocytoid B-cell lymphoma (morphologic abnormality) | Monocytoid B-cell lymphoma -RETIRED- | Nodal Marginal Zone B-Cell Lymphoma | Nodal Marginal Zone Lymphoma | Nodal marginal zone B-cell lymph. | Nodal marginal zone B-cell lymphoma | Nodal marginal zone B-cell lymphoma (morphologic abnormality) | Nodal marginal zone B-cell lymphoma NOS | Nodal marginal zone B-cell lymphomas | Nodal marginal zone lymphoma | [M] Monocytoid B-cell lymphoma | [M]Monocytoid B-cell lymphoma | [M]Monocytoid B-cell lymphoma (disorder) | [M]Monocytoid B-cell lymphoma (morphologic abnormality) | lymphoma; B-cell, monocytoid | lymphoma; monocytoid B-cell | malignant neoplasm lymphoma b-cell low grade diffuse monocytoid | monocytoid B-cell; lymphoma | nodal marginal zone B-cell lymphoma | nodal marginal zone B-cell lymphoma (diagnosis) NCI2016_02D:A primary nodal B-cell non-Hodgkin lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease. (WHO, 2001) ICD10CM_2017:C83.0|SNOMEDCT_US_2016_09_01:128803008|SNOMEDCT_US_2016_09_01:13204007|SNOMEDCT_US_2016_09_01:190010005|SNOMEDCT_US_2016_09_01:190075007|SNOMEDCT_US_2016_09_01:277623009|SNOMEDCT_US_2016_09_01:397349003 C4021038 Abnormal circulating renin Abnormal circulating renin | Abnormal plasma renin HPO2016_07_04:HP:0040084 C0271934 Congenital dyserythropoietic anemia, type iii ANEMIA WITH MULTINUCLEATED ERYTHROBLASTS | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III | Anemia With Multinucleated Erythroblasts | Anemia, Dyserythropoietic Congenital, Type III | Anemia, Dyserythropoietic, Congenital, Type III | CDA III | CDAN3 | Congenital Dyserythropoietic Anemia, Type III | Congenital dyserythropoietic anaemia type 3 | Congenital dyserythropoietic anaemia type III | Congenital dyserythropoietic anaemia, type III | Congenital dyserythropoietic anemia type 3 | Congenital dyserythropoietic anemia type III | Congenital dyserythropoietic anemia, type III | Congenital dyserythropoietic anemia, type III (disorder) | DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE III | Dyserythropoietic Anemia, Congenital, Type III MSH2017_2016_08_12:D000742|OMIM2016_04_17:105600|SNOMEDCT_US_2016_09_01:26409005 C0242583 Bare lymphocyte syndrome BLS - Bare lymphocyte syndrome | Bare Lymphocyte Syndrome | Bare Lymphocyte Syndromes | Bare lymphocyte syndrome | Lymphocyte Syndrome, Bare | Lymphocyte Syndromes, Bare | SCID due to absent class II HLA antigens | SCID due to absent class II HLA antigens (disorder) | Severe combined immunodeficiency (SCID) due to absent class II HLA antigens | Severe combined immunodeficiency (SCID) due to absent class II HLA antigens (disorder) | Severe combined immunodeficiency due to absent class II human leukocyte antigens | Severe combined immunodeficiency due to absent class II human leukocyte antigens (disorder) | Syndrome, Bare Lymphocyte | Syndromes, Bare Lymphocyte | bare lymphocyte syndrome | bare lymphocyte syndrome (diagnosis) | bare; lymphocyte, syndrome | severe combined immunodeficiency due to absent class ii human leukocyte antigens (diagnosis) | syndrome; bare lymphocyte NCI2016_02D:A hereditary immunodeficiency disorder caused by the absence of major histocompatibility complex class II expression. Signs include upper and lower respiratory tract bacterial infections, malabsorption, diarrhea, and mucocutaneous candidiasis. ICD10CM_2017:D81.6|MSH2017_2016_08_12:D016511|SNOMEDCT_US_2016_09_01:71904008 C0265421 Warkany syndrome Complete trisomy 8 syndrome | Complete trisomy 8 syndrome (disorder) | Trisomy 8 normal mosaicism | Warkany syndrome | warkany syndrome SNOMEDCT_US_2016_09_01:68454002 C4021779 Abnormality of the calf musculature Abnormal calf muscles | Abnormality of calf musculature | Abnormality of the calf musculature HPO2016_07_04:HP:0001430 C2981666 Stage iia distal bile duct cancer Stage IIA Distal Bile Duct Cancer | Stage IIA Distal Bile Duct Cancer AJCC v7 NCI2016_02D:Stage IIA includes: T3, N0, M0. T3: Tumor invades the gallbladder, pancreas, duodenum, or other adjacent organs without involvement of the celiac axis or the superior mesenteric artery. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.) C0341335 Cytomegaloviral colitis CMV - Cytomegalovirus colitis | CMV Colitis | CMV colitis | COLITIS CMV | Cytomegaloviral colitis | Cytomegaloviral colitis (disorder) | Cytomegalovirus Colitis | Cytomegalovirus colitis | cmv colitis | colitis cytomegalovirus | cytomegalovirus colitis | cytomegalovirus colitis (diagnosis) SNOMEDCT_US_2016_09_01:235749000|SNOMEDCT_US_2016_09_01:281389001 C0085165 Bovine leukosis Bovine Leukoses | Bovine Leukoses, Enzootic | Bovine Leukosis | Bovine Leukosis, Enzootic | Bovine leukosis | Bovine viral leukosis | Bovine viral leukosis (disorder) | Enzootic Bovine Leukoses | Enzootic Bovine Leukosis | Enzootic Bovine Leukosis [Disease/Finding] | Enzootic bovine leukosis | Leukoses, Bovine | Leukoses, Enzootic Bovine | Leukosis, Bovine | Leukosis, Enzootic Bovine | Malignant lymphoma of cattle | bovine leukosis | leukosis viral bovine MSH2017_2016_08_12:A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding. MSH2017_2016_08_12:D016583|SNOMEDCT_US_2016_09_01:15861008 C3281092 Thrombophilia due to protein s deficiency, autosomal recessive THPH6 | THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE OMIM2016_04_17:176880|OMIM2016_04_17:614514 C0878666 Analbuminemia ANALBA | ANALBUMINEMIA | Analbuminaemia | Analbuminemia | Analbuminemia (finding) | analbuminaemia | analbuminemia | analbuminemia (diagnosis) NCI2016_02D:A rare, autosomal recessive inherited disorder characterized by the absence or severe reduction of circulating human serum albumin. OMIM2016_04_17:616000|SNOMEDCT_US_2016_09_01:129232009 C0030330 Panniculitis, peritoneal Panniculitis, Peritoneal | Panniculitis, Peritoneal [Disease/Finding] | Peritoneal Panniculitis MSH2017_2016_08_12:INFLAMMATION of the underlying layer of ADIPOSE TISSUE (panniculus) of the PERITONEUM, usually of the MESENTERY or the OMENTUM. There are several forms with various names and are usually characterized by infiltration of LYMPHOCYTES and NEUTROPHILS, fat NECROSIS, and FIBROSIS. | NCI2016_02D:A disorder characterized by chronic inflammation and fibrosis of the adipose tissues in the peritoneal cavity. MSH2017_2016_08_12:D015436 C0854810 Recurrent hodgkin's disease lymphocyte depletion type Hodgkin's disease lymphocyte depletion type recurrent | Recurrent Hodgkin's Disease Lymphocyte Depletion Type | Recurrent Hodgkin's Lymphoma Lymphocyte Depleted | Recurrent Hodgkin's Lymphoma Lymphocyte Depletion Type | Recurrent Lymphocyte Depleted Classical Hodgkin Lymphoma | Recurrent Lymphocyte Depleted Hodgkin Lymphoma | Recurrent Lymphocyte Depleted Hodgkin's Lymphoma | Recurrent Lymphocyte-Depleted Classical Hodgkin Lymphoma | Relapsed Hodgkin's Disease Lymphocyte Depletion Type | Relapsed Hodgkin's Lymphoma Lymphocyte Depletion Type NCI2016_02D:The reemergence of lymphocyte-depleted classical Hodgkin lymphoma after a period of remission. C3539507 Spastic paraplegia 56, autosomal recessive SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE | SPG56 OMIM2016_04_17:610670|OMIM2016_04_17:615030 C0080040 Polio post syndrome Muscular Atrophies, Post-Poliomyelitis | Muscular Atrophies, Postpoliomyelitis | Muscular Atrophy, Post-Poliomyelitis | Muscular Atrophy, Postpoliomyelitis | POSTPOLIO SYNDROME | Post Poliomyelitis Muscular Atrophy | Post Poliomyelitis Syndrome | Post polio syndrome | Post poliomyelitis syndrome | Post poliomyelitis syndrome (disorder) | Post-Polio Syndrome | Post-Polio Syndromes | Post-Poliomyelitis Muscular Atrophies | Post-Poliomyelitis Muscular Atrophy | Post-Poliomyelitis Syndrome | Post-polio Syndrome | Postpolio muscular atrophy | Postpolio syndrome | Postpolio syndrome (disorder) | Postpoliomyelitis Muscular Atrophies | Postpoliomyelitis Muscular Atrophy | Postpoliomyelitis Syndrome | Postpoliomyelitis Syndrome [Disease/Finding] | polio post syndrome | post polio syndrome | post poliomyelitis syndrome | post-polio syndrome | post-polio syndrome (diagnosis) | postpolio syndrome | postpoliomyelitis syndrome MSH2017_2016_08_12:A syndrome characterized by new neuromuscular symptoms that occur at least 15 years after clinical stability has been attained in patients with a prior history of symptomatic poliomyelitis. Clinical features include new muscular weakness and atrophy of the limbs, bulbar innervated musculature, and muscles of respiration, combined with excessive fatigue, joint pain, and reduced stamina. The process is marked by slow progression and periods of stabilization. (From Ann NY Acad Sci 1995 May 25;753:68-80) ICD10CM_2017:G14|MSH2017_2016_08_12:D016262|SNOMEDCT_US_2016_09_01:31097004|SNOMEDCT_US_2016_09_01:367094007 C0748319 Renal insufficiency unilateral RENAL INSUFFICIENCY UNILATERAL C3554366 Charcot-marie-tooth disease, axonal, type 2q CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Q | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q | CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q | CMT2Q OMIM2016_04_17:615025 C4021189 Underdeveloped superior crus of antihelix Hypoplastic superior crus of antihelix | Hypotrophic superior crus of antihelix | Underdeveloped superior crus of antihelix HPO2016_07_04:Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem. [pmid:19152421] HPO2016_07_04:HP:0011246 C0857812 Sickle cell-beta^+^-thalassemia Hb-S B+ -thalassemia | Hb-S B+ -thalassemia (diagnosis) | Sickle cell-beta+-thalassaemia | Sickle cell-beta+-thalassemia | Sickle cell-beta+-thalassemia (disorder) | Sickle cell-beta+-thalassaemia | Sickle cell-beta+-thalassemia | Sickle cell-beta+-thalassemia (disorder) | Sickle cell-beta^+^-thalassaemia | Sickle cell-beta^+^-thalassemia | Sickle cell-beta^+^-thalassemia (disorder) | Sickle-cell beta thalassaemia | Sickle-cell beta thalassemia ICD10CM_2017:D57.4|SNOMEDCT_US_2016_09_01:127042006 C1837271 Increased serum long-chain fatty acids Elevated serum long-chain fatty acids | Increased serum long-chain fatty acids HPO2016_07_04:HP:0045016|OMIM2016_04_17:MTHU001639 C1846164 Testicular germ cell tumor 1 TESTICULAR GERM CELL TUMOR 1 | TGCT1 | Testicular Germ Cell Tumor 1 MSH2017_2016_08_12:C564559|OMIM2016_04_17:300228 C4042891 Sleep wake disorders Disorder, Sleep Wake | Disorders, Sleep Wake | Sleep Wake Disorder | Sleep Wake Disorders | Wake Disorder, Sleep | Wake Disorders, Sleep MSH2017_2016_08_12:D012893 C3279690 Moyamoya disease 5 MOYAMOYA DISEASE 5 | MYMY5 OMIM2016_04_17:102620|OMIM2016_04_17:614042 C1856953 Palmar hyperhidrosis Excessive sweating of hands | Palmar hyperhidrosis | excessive sweating of hands | excessive sweating of hands (symptom) HPO2016_07_04:HP:0006089|OMIM2016_04_17:MTHU013134 C0752121 Spinocerebellar ataxia type 2 Ataxia 2, Spinocerebellar | Ataxia 2s, Spinocerebellar | Atrophy 2, Olivopontocerebellar | Atrophy 2, Spinocerebellar | Atrophy 2s, Olivopontocerebellar | Atrophy 2s, Spinocerebellar | Atrophy II, Olivopontocerebellar | Atrophy II, Spinocerebellar | Atrophy IIs, Olivopontocerebellar | Atrophy IIs, Spinocerebellar | CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS | Cerebellar Degeneration with Slow Eye Movements | II, Olivopontocerebellar Atrophy | II, Spinocerebellar Atrophy | IIs, Olivopontocerebellar Atrophy | IIs, Spinocerebellar Atrophy | OLIVOPONTOCEREBELLAR ATROPHY II | OLIVOPONTOCEREBELLAR ATROPHY, HOLGUIN TYPE | OPCA2 | Olivopontocerebellar Atrophy 2 | Olivopontocerebellar Atrophy 2s | Olivopontocerebellar Atrophy II | Olivopontocerebellar Atrophy IIs | Olivopontocerebellar Atrophy, Holguin Type | SCA2 | SDSEM | SPINOCEREBELLAR ATAXIA 2 | SPINOCEREBELLAR ATAXIA, CUBAN TYPE | SPINOCEREBELLAR ATROPHY II | SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS | Spinocerebellar Ataxia 2 | Spinocerebellar Ataxia 2s | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia with Slow Eye Movements | Spinocerebellar Ataxia, Cuban Type | Spinocerebellar Ataxia-2 | Spinocerebellar Atrophy 2 | Spinocerebellar Atrophy 2s | Spinocerebellar Atrophy II | Spinocerebellar Atrophy IIs | Spinocerebellar Degeneration with Slow Eye Movements | Spinocerebellar ataxia type 2 | Spinocerebellar ataxia type 2 (disorder) | Swami Syndrome, Wadia | Syndrome, Wadia Swami | Syndrome, Wadia-Swami | Type 2 Spinocerebellar Ataxia | WADIA-SWAMI SYNDROME | Wadia Swami Syndrome | Wadia-Swami Syndrome SNOMEDCT_US_2016_09_01:Main features described as truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Presents in the third or fourth decade, Parkinsonism is also a less common but well-documented manifestation. There is no distinct clinical feature that reliably distinguishes type 1 from type 2 although tremor and autonomic dysfunction are more common in type 2. MSH2017_2016_08_12:D020754|OMIM2016_04_17:183090|OMIM2016_04_17:271322|OMIM2016_04_17:601517|SNOMEDCT_US_2016_09_01:715751004 C1963674 Spinocerebellar ataxia 10 SCA10 | SPINOCEREBELLAR ATAXIA 10 | Sca10 | Spinocerebellar Ataxia 10 MSH2017_2016_08_12:C566874|OMIM2016_04_17:603516|OMIM2016_04_17:611150 C0234421 Conscious CONSCIOUS | Conscious | Conscious (Personality Factor) | Conscious State | Consciousness | Consciousness (observable entity) | Consciousness functions | Consciousness functions, unspecified | Consciousness, NOS | Consciousnesses | State of awareness | conscious | consciousness CSP2006:state of being aware, or perceiving physical facts or mental concepts; a state of general wakefulness and responsiveness to environment; a functioning sensorium. | ICF-CY_2008:General mental functions of the state of awareness and alertness, including the clarity and continuity of the wakeful state. | ICF_2008_12_19:General mental functions of the state of awareness and alertness, including the clarity and continuity of the wakeful state. | MSH2017_2016_08_12:Sense of awareness of self and of the environment. | NCI2016_02D:A level of awareness that can be described as being alert. | NCI2016_02D:The state of being alert, oriented, and responsive to the environment. | NCI2016_CDISC_1602D:A level of awareness that can be described as being alert. (NCI) | OMS2005:Awareness of and responsiveness to stimuli and the surroundings. | PSY2004:That portion of personal mental functioning which is known to the individual or is observable by introspection. MSH2017_2016_08_12:D003243|SNOMEDCT_US_2016_09_01:106167005|SNOMEDCT_US_2016_09_01:3551008 C1384666 Hearing impairment Decreased hearing | Decreased hearing (finding) | Difficulty hearing | HEARING DECREASED | HEARING IMPAIRED | HEARING IMPAIRMENT | HEARING LOSS | HEARING REDUCED | HI - Hearing impairment | HL - Hearing loss | HOH - Hard of hearing | Hard of hearing | Hearing Impairment | Hearing Loss | Hearing Loss [Disease/Finding] | Hearing decreased | Hearing defect | Hearing deficit | Hearing impaired | Hearing impairment | Hearing loss | Hearing loss (disorder) | Hearing loss (finding) | Hearing loss, NOS | Hearing loss, unspecified | Hearing losses | Hearing reduced | Hypoacuses | Hypoacusis | Impaired hearing | Impairment, Hearing | Impairment;hearing | Loss (of);hearing | Loss of hearing | Loss, Hearing | Unspecified hearing loss | decreased hearing | defect; hearing | hard of hearing | hearing impaired | hearing impairment | hearing impairments | hearing loss | hearing loss (diagnosis) | hearing; defect | hearing; loss | impaired hearing | loss of hearing | loss of hearing (symptom) | loss; hearing HPO2016_07_04:A decreased magnitude of the sensory perception of sound. [HPO:probinson] | MSH2017_2016_08_12:A general term for the complete or partial loss of the ability to hear from one or both ears. | NCI2016_02D:Partial or complete loss of the ability to detect or understand sounds resulting from damage to the outer, middle, or inner ear structures. Causes include exposure to loud noise, ear infections, injuries to the ear, genetic, and congenital disorders. | NCI2016_CTCAE_1602D:A disorder characterized by partial or complete loss of the ability to detect or understand sounds resulting from damage to ear structures. HPO2016_07_04:HP:0000365|ICD10CM_2017:H91.9|ICD9CM_2014:389|ICD9CM_2014:389.9|MSH2017_2016_08_12:D034381|OMIM2016_04_17:MTHU022947|OMIM2016_04_17:MTHU036353|OMIM2016_04_17:MTHU038541|SNOMEDCT_US_2016_09_01:103276001|SNOMEDCT_US_2016_09_01:111543003|SNOMEDCT_US_2016_09_01:15188001|SNOMEDCT_US_2016_09_01:155242002|SNOMEDCT_US_2016_09_01:155254002|SNOMEDCT_US_2016_09_01:194411005|SNOMEDCT_US_2016_09_01:267764005 C2363755 Acquired protein s deficiency Acquired Protein S Deficiency | Acquired protein S deficiency | protein s deficiency acquired | protein s deficiency acquired (diagnosis) MSH2017_2016_08_12:C567077 C0349649 Pulmonary lymphangioleiomyomatosis Lung Lymphangioleiomyomatosis | Lung Lymphangiomyomatosis | Pulmonary lymphangioleiomyomatosis | Pulmonary lymphangioleiomyomatosis (disorder) NCI2016_02D:Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course. SNOMEDCT_US_2016_09_01:277844007 C0041331 Splenic tuberculoses Spleen tuberculosis | Splenic Tuberculoses | Splenic Tuberculosis | Tuberculoses, Splenic | Tuberculosis of spleen | Tuberculosis of spleen (disorder) | Tuberculosis, Splenic | Tuberculosis, Splenic [Disease/Finding] | tuberculosis of spleen | tuberculosis of spleen (diagnosis) MSH2017_2016_08_12:Infection of the spleen with species of MYCOBACTERIUM. ICD10CM_2017:A18.85|ICD9CM_2014:017.7|MSH2017_2016_08_12:D014400|SNOMEDCT_US_2016_09_01:28399005 C0273487 Cranial nerve i injury Cranial Nerve I Injury | First Cranial Nerve Injuries | First Cranial Nerve Injury | First Nerve Palsy, Traumatic | First Nerve Trauma | First cranial nerve injury | First-Nerve Palsies, Traumatic | First-Nerve Palsy, Traumatic | First-Nerve Trauma | First-Nerve Traumas | Injuries, Olfactory Nerve | Injury of first cranial nerve | Injury of olfactory [1st ] nerve | Injury of olfactory nerve | Injury of olfactory nerve (disorder) | Injury to 1st cranial nerve | Injury to olfactory nerve | Injury, Cranial Nerve I | Injury, First Cranial Nerve | Injury, Olfactory Nerve | Nerve Injuries, Olfactory | Nerve Injury, Olfactory | Nerve Trauma, Olfactory | Nerve Traumas, Olfactory | Neuropathies, Traumatic Olfactory | Neuropathy, Traumatic Olfactory | Olfactory (1st) nerve injury | Olfactory Nerve Injuries | Olfactory Nerve Injuries [Disease/Finding] | Olfactory Nerve Injury | Olfactory Nerve Trauma | Olfactory Nerve Traumas | Olfactory Neuropathies, Traumatic | Olfactory Neuropathy, Traumatic | Olfactory nerve injury | Olfactory nerve injury (disorder) | Palsies, Traumatic First-Nerve | Palsy, Traumatic First-Nerve | Trauma, First-Nerve | Trauma, Olfactory Nerve | Traumas, First-Nerve | Traumas, Olfactory Nerve | Traumatic First Nerve Palsy | Traumatic First-Nerve Palsies | Traumatic First-Nerve Palsy | Traumatic Olfactory Neuropathies | Traumatic Olfactory Neuropathy | injury; olfactory nerve | n.olfactorius; injury | olfactory nerve injury | olfactory nerve injury (diagnosis) | traumatic olfactory nerve injury | traumatic olfactory nerve injury (diagnosis) MSH2017_2016_08_12:Traumatic injuries to the OLFACTORY NERVE. It may result in various olfactory dysfunction including a complete loss of smell. ICD10CM_2017:S04.81|MSH2017_2016_08_12:D061219|SNOMEDCT_US_2016_09_01:212151008|SNOMEDCT_US_2016_09_01:304835005|SNOMEDCT_US_2016_09_01:72758005 C1838063 Auditory auras Auditory aura | Auditory auras | Auras associated with hearing HPO2016_07_04:Auras with sensations of buzzing, drumming sounds or single tones. [HPO:jalbers] HPO2016_07_04:HP:0011158|OMIM2016_04_17:MTHU006424|OMIM2016_04_17:MTHU051765 C1850530 Flexion contractures of joints Flexion contractures of joints HPO2016_07_04:HP:0001371|OMIM2016_04_17:MTHU010686 C3273031 Hnec HNEC | Hepatic Neuroendocrine Carcinoma | Liver Neuroendocrine Carcinoma | Primary Hepatic Neuroendocrine Carcinoma | Primary Liver Neuroendocrine Carcinoma | Primary hepatic neuroendocrine carcinoma | Primary hepatic neuroendocrine carcinoma (disorder) NCI2016_02D:An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver. | SNOMEDCT_US_2016_09_01:A rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed. The age of onset is variable. The etiology is still unknown but it is thought to arise from Kulchitsky cells originating in the neural crest. | SNOMEDCT_US_2016_09_01:A rare hepatic tumour that may manifest with abdominal pain or fullness, as well as diarrhoea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed. The age of onset is variable. The aetiology is still unknown but it is thought to arise from Kulchitsky cells originating in the neural crest. SNOMEDCT_US_2016_09_01:716652006 C1707442 Colorectal squamous cell carcinoma Colorectal Squamous Cell Carcinoma NCI2016_02D:A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate. C0026644 Mouth, edentulous Absence of teeth | EDENTULOUS | Edentulous | Edentulous (finding) | Edentulous Mouth | Edentulous Mouths | Edentulous mouth | Mouth, Edentulous | Mouth, Edentulous [Disease/Finding] | Mouth, Toothless | No natural teeth | Toothless Mouth | absence of teeth | all teeth were absent | edentulous | edentulous (physical finding) | natural teeth MSH2017_2016_08_12:Total lack of teeth through disease or extraction. | NCI2016_02D:Having teeth in neither the mandible nor the maxilla. MSH2017_2016_08_12:D009066|SNOMEDCT_US_2016_09_01:155636005|SNOMEDCT_US_2016_09_01:196263003|SNOMEDCT_US_2016_09_01:234948008|SNOMEDCT_US_2016_09_01:266487009|SNOMEDCT_US_2016_09_01:278650002 C2748941 Glycogen storage disease, type ixa2 GLYCOGEN STORAGE DISEASE IXa2 | GLYCOGEN STORAGE DISEASE, TYPE IXa2 | GSD IXA2 | GSD IXa2 | GSD9A2 | Glycogen Storage Disease, Type IXA2 MSH2017_2016_08_12:C567579|OMIM2016_04_17:300798|OMIM2016_04_17:306000 C0206685 Acinar cell carcinoma Acinar Adenocarcinoma | Acinar Carcinoma | Acinar Carcinomas | Acinar Cell Adenocarcinoma | Acinar Cell Adenocarcinomas | Acinar Cell Carcinoma | Acinar Cell Carcinomas | Acinar adenocarcinoma | Acinar carcinoma | Acinar cell carcinoma | Acinar cell carcinoma (morphologic abnormality) | Acinic Cell Adenocarcinoma | Acinic Cell Adenocarcinomas | Acinic Cell Carcinoma | Acinic Cell Carcinomas | Acinic Cell Tumor | Acinic Cell Tumors | Acinic cell adenocarcinoma | Acinic cell carcinoma | Adenocarcinoma, Acinar Cell | Adenocarcinoma, Acinic Cell | Adenocarcinomas, Acinar Cell | Adenocarcinomas, Acinic Cell | CARCINOMA, ACINAR CELL, MALIGNANT | Carcinoma, Acinar | Carcinoma, Acinar Cell | Carcinoma, Acinar Cell [Disease/Finding] | Carcinoma, Acinic Cell | Carcinomas, Acinar | Carcinomas, Acinar Cell | Carcinomas, Acinic Cell | Tumor, Acinic Cell | Tumors, Acinic Cell | acinar adenocarcinoma | acinar carcinoma | acinar cell carcinoma | acinar cell carcinoma (diagnosis) MSH2017_2016_08_12:A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575) | NCI2016_02D:A malignant glandular epithelial neoplasm consisting of secretory cells forming acinar patterns. Representative examples include the acinar cell carcinoma of the pancreas and the acinar adenocarcinoma of the prostate gland. | NCI2016_CDISC_1602D:A malignant glandular epithelial neoplasm comprising secretory cells forming acinar patterns. MSH2017_2016_08_12:D018267|SNOMEDCT_US_2016_09_01:45410002 C0025306 Meningococcemia MENINGOCOCCEMIA | Meningococcaemia | Meningococcaemia, unspecified | Meningococcaemia,unspecifd | Meningococcal sepsis | Meningococcal septicaemia | Meningococcal septicaemia (disorder) | Meningococcal septicemia | Meningococcemia | Meningococcemia (disorder) | Meningococcemia, unspecified | Meningococcemia,unspecifd | Sepsis meningococcal | Septicaemia meningococcal | Septicemia meningococcal | [X]Meningococcaemia, unspecified | [X]Meningococcaemia,unspecifd | [X]Meningococcemia, unspecified | [X]Meningococcemia, unspecified (disorder) | [X]Meningococcemia,unspecifd | meningococcaemia | meningococcal sepsis | meningococcal septicaemia | meningococcal septicemia | meningococcal septicemia (diagnosis) | meningococcal; sepsis | meningococcemia | sepsis; meningococcal ICD10CM_2017:A39.4|ICD9CM_2014:036.2|SNOMEDCT_US_2016_09_01:154308000|SNOMEDCT_US_2016_09_01:187326004|SNOMEDCT_US_2016_09_01:4089001 C0155087 Interstitial and deep keratitis Deep keratitis | Interstitial and deep keratitis | Interstitial and deep keratitis (disorder) | Interstitial and deep keratitis NOS | Interstitial and deep keratitis NOS (disorder) | Interstitial/deep keratit. NOS ICD10CM_2017:H16.3|ICD9CM_2014:370.5|SNOMEDCT_US_2016_09_01:193783008|SNOMEDCT_US_2016_09_01:193788004 C0011175 Dehydration DEHYDRATION | Deficient fluid volume | Dehydrated | Dehydration | Dehydration (disorder) | Dehydration [Disease/Finding] | Dehydration syndrome | Exsiccosis | Pure water depletion syndrome | body water dehydration | deficient fluid volume | dehydration | exsiccosis | loss of body water CSP2006:condition that results from excessive loss of water from a living organism. | MEDLINEPLUS_20151021:When you're dehydrated, your body doesn't have enough fluid to work properly. An average person on an average day needs about 3 quarts of water. But if you're out in the hot sun, you'll need a lot more than that. Most healthy bodies are very good at regulating water. Elderly people, young children and some special cases - like people taking certain medications - need to be a little more careful.
Signs of dehydration in adults include
Signs of dehydration in babies and young children include a dry mouth and tongue, crying without tears, no wet diapers for 3 hours or more, a high fever and being unusually sleepy or drowsy.
If you think you're dehydrated, drink small amounts of water over a period of time. Taking too much all at once can overload your stomach and make you throw up. For people exercising in the heat and losing a lot of minerals in sweat, sports drinks can be helpful. Avoid any drinks that have caffeine.
| MSH2017_2016_08_12:The condition that results from excessive loss of water from a living organism. | NANDA-I_2015-2017:Decreased intravascular, interstitial, and/or intracellular fluid. This refers to dehydration, water loss alone without change in sodium. | NCI2016_02D:A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis. | NCI2016_CTCAE_1602D:A disorder characterized by excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis. | NCI2016_NCI-GLOSS_1602D:A condition caused by the loss of too much water from the body. Severe diarrhea or vomiting can cause dehydration. | NCI2016_NICHD_1602D:A state characterized by lower than normal levels of water in the body. | PSY2004:State of excessively reduced body water or water deficit. HPO2016_07_04:HP:0001944|ICD10CM_2017:E86.0|ICD9CM_2014:276.51|MSH2017_2016_08_12:D003681|OMIM2016_04_17:MTHU000177|SNOMEDCT_US_2016_09_01:154759001|SNOMEDCT_US_2016_09_01:34095006|SNOMEDCT_US_2016_09_01:37472003 C0340190 Acute silicosis Acute silicosis | Acute silicosis (disorder) | Alveolar silicolipoproteinosis | acute silicosis | acute silicosis (diagnosis) SNOMEDCT_US_2016_09_01:233760007 C0267071 Oropharyngeal dysphagia Difficulty swallowing | Dysphagia, Oropharyngeal | Dysphagia, oropharyngeal phase | Oral-pharyngeal dysphagia | Oropharyngeal Dysphagia | Oropharyngeal dysphagia | Oropharyngeal dysphagia (disorder) | Pharyngeal dysphagia | Transfer dysphagia | difficulty swallowing during oropharyngeal phase | difficulty swallowing during oropharyngeal phase (symptom) | oropharyngeal dysphagia | oropharyngeal phase dysphagia | pharyngeal dysphagia NCI2016_02D:Difficulty in swallowing due to an abnormality in the mouth or throat.(NICHD) | NCI2016_NICHD_1602D:Difficulty in swallowing due to an abnormality in the mouth or throat. HPO2016_07_04:HP:0200136|ICD10CM_2017:R13.12|ICD9CM_2014:787.22|MSH2017_2016_08_12:D003680|OMIM2016_04_17:MTHU033848|OMIM2016_04_17:MTHU049354|SNOMEDCT_US_2016_09_01:71457002 C0265216 X-linked hydrocephalus syndrome AQUEDUCTAL STENOSIS, X-LINKED | Aqueductal stenosis, X-linked | Bickers-Adams syndrome | HSAS | HSAS1 | HYCX | HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS | HYDROCEPHALUS, X-LINKED | Hydrocephalus due to congenital stenosis of aqueduct of sylvius | Hydrocephalus, X-linked | X-linked aqueductal stenosis | X-linked aqueductal stenosis (XLAS) | X-linked hydrocephalus | X-linked hydrocephalus syndrome | X-linked hydrocephalus syndrome (disorder) | X-linked hydrocephalus-stenosis of aqueduct of Sylvius sequence | XLAS | hydrocephalus due to congenital stenosis of aqueduct of Sylvius | hydrocephalus due to congenital stenosis of aqueduct of Sylvius (HSAS, HYCX) | hydrocephalus x link | x-linked aqueductal stenosis | x-linked hydrocephalus JABL99:Sex-linked hydrocephalus, aqueductal stenosis, mental deficiency, and flexion deformities and spasticity of the extremities. HSAS, MASA (mental retardation, adducted thumbs, shuffling gait, and aphasia), and complicated paraplegia (SPG1) share many common characteristics. Later studies reported HSAS patients with hydrocephalus but without aqueductal stenosis. MSH2017_2016_08_12:C536078|OMIM2016_04_17:236635|OMIM2016_04_17:307000|OMIM2016_04_17:308840|SNOMEDCT_US_2016_09_01:71779008 C0343922 Blastomycosis, north american, cutaneous Blastomycosis, North American, cutaneous | Cutaneous blastomycosis | Cutaneous blastomycosis (disorder) | Gilchrist's disease affecting skin | North American blastomycotic dermatitis | North American cutaneous blastomycosis | North American cutaneous blastomycosis (disorder) | blastomycosis; cutaneous (etiology) | blastomycosis; cutaneous (manifestation) | blastomycosis; skin (etiology) | blastomycosis; skin (manifestation) | cutaneous blastomycosis | cutaneous blastomycosis (diagnosis) | cutaneous; blastomycotic (etiology) | cutaneous; blastomycotic (manifestation) | skin; blastomycotic (etiology) | skin; blastomycotic (manifestation) ICD10CM_2017:B40.3|SNOMEDCT_US_2016_09_01:187065008|SNOMEDCT_US_2016_09_01:45644002 C0039474 Temperament Temperament | Temperaments | temperament MSH2017_2016_08_12:Predisposition to react to one's environment in a certain way; usually refers to mood changes. | NCI2016_02D:An individual's habitual frame of mind or natural emotional disposition. MSH2017_2016_08_12:D013694 C1275808 Congenital central hypoventilation AUTONOMIC CONTROL, CONGENITAL FAILURE OF | Autonomic Control, Congenital Failure of | CCHS | CCHS - Congenital central hypoventilation | CCHS - Congenital central hypoventilation (finding) | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL | Central Hypoventilation Syndrome, Congenital | Congenital Central Hypoventilation | Congenital Central Hypoventilation Syndrome | Congenital Ondine curse | Congenital central hypoventilation | Congenital central hypoventilation (disorder) | Congenital central hypoventilation syndrome | Congenital failure of autonomic control | Congenital pulmonary hypoventilation | Idiopathic congenital central alveolar hypoventilation | ONDINE CURSE, CONGENITAL | Ondine Curse, Congenital | Primary alveolar hypoventilation NCI2016_02D:A disorder characterized by hypoventilation and hypoxemia. It appears early in life and is not associated with cardiopulmonary or neuromuscular abnormalities. MSH2017_2016_08_12:C536209|OMIM2016_04_17:100790|OMIM2016_04_17:113505|OMIM2016_04_17:131242|OMIM2016_04_17:209880|OMIM2016_04_17:600837|OMIM2016_04_17:603851|SNOMEDCT_US_2016_09_01:361207008|SNOMEDCT_US_2016_09_01:399040002 C0015481 Factitious disorder with psychological symptoms Factitious disorder with predominantly psychological signs and symptoms | Factitious disorder with predominantly psychological signs and symptoms (disorder) | Factitious disorder with psychological symptoms | Factitious disorder with psychological symptoms (disorder) | Factitious disorder with psychological symptoms-RETIRED- | Factitious illness with psychological symptoms | factitious disorder with psychological symptoms | factitious disorder with psychological symptoms (diagnosis) | factitious illness (psychological) ICD10CM_2017:F68.11|ICD9CM_2014:300.16|SNOMEDCT_US_2016_09_01:31122002|SNOMEDCT_US_2016_09_01:430751001 C2675767 Edm6 EDM6 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 OMIM2016_04_17:614135 C3150998 Spinocerebellar ataxia, autosomal recessive 10 SCAR10 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 OMIM2016_04_17:613726|OMIM2016_04_17:613728 C0006015 Bordetella infections BORDETELLOSES | Bordetella Infection | Bordetella Infections | Bordetella Infections [Disease/Finding] | Bordetella infection | Bordetella infections | Bordetellosis | Bordetellosis (diagnosis) | Bordetellosis (disorder) | Bordetellosis, NOS | Infection, Bordetella | Infections, Bordetella | bordetellosis | gram-negative bacteria infection bordetellosis | infection; Bordetella MSH2017_2016_08_12:Infections with bacteria of the genus BORDETELLA. MSH2017_2016_08_12:D001885|SNOMEDCT_US_2016_09_01:26484003 C2673535 Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive (disorder) Autosomal Recessive Infantile Parkinsonism | Autosomal recessive Segawa syndrome | Autosomal recessive dopa responsive dystonia | Autosomal recessive dopa responsive dystonia (disorder) | DOPA responsive dystonia, autosomal recessive | DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL RECESSIVE | DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL RECESSIVE | DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE | DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) | Dopa-Responsive Dystonia, Autosomal Recessive | Dystonia, DOPA responsive, autosomal recessive | Dystonia, Dopa-Responsive, Autosomal Recessive | Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive | PARKINSONISM, INFANTILE, AUTOSOMAL RECESSIVE | Parkinsonism, infantile, autosomal recessive | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | Segawa syndrome, autosomal recessive | TYROSINE HYDROXYLASE DEFICIENCY | Th-Deficient Drd | Tyrosine Hydroxylase Deficiency | Tyrosine hydroxylase deficient dopa responsive dystonia SNOMEDCT_US_2016_09_01:Autosomal recessive dopa responsive dystonia (DYT5b) is a very rare neurometabolic disorder with a spectrum of symptoms ranging from those seen in dopa responsive dystonia to progressive infantile encephalopathy. Disease presents in infancy (most frequently in the first year of life) with a progressive hypokinetic rigid syndrome, involuntary jerky movements, postural tremor, or gait disturbances that may fluctuate during the day and show good or excellent responsiveness to levodopa in most cases. DYT5b is caused by mutations in the tyrosine hydroxylase TH gene (11p15.5). Inherited in an autosomal recessive manner. MSH2017_2016_08_12:C537537|OMIM2016_04_17:191290|OMIM2016_04_17:233910|OMIM2016_04_17:600225|OMIM2016_04_17:605407|SNOMEDCT_US_2016_09_01:715827001 C1552527 Clinic / center - developmental disabilities Ambulatory Health Care Facilities; Clinic/Center, Developmental Disabilities | Clinic / Center - Developmental Disabilities | Developmental Disabilities HL7V3.0_2015_07:An entity, facility, or distinct part of a facility providing comprehensive, multidiscipline diagnostic, treatment, therapy, training, and counseling services to children with congenital disorders that precipitate developmental delays and in many instances mental deficiencies (e.g., Cerebral Palsy, metabolic disorders, Sturge-Weber Syndrome, etc.).
C4280264 Premature plaque build-up in arteries Premature plaque build-up in arteries HPO2016_07_04:HP:0004416 C1419149 Pex2 gene PAF-1 | PAF1 | PEROXIN 2 | PEROXISOMAL ASSEMBLY FACTOR 1 | PEROXISOMAL MEMBRANE PROTEIN 3 | PEROXISOMAL MEMBRANE PROTEIN, 35-KD | PEROXISOME BIOGENESIS FACTOR 2 | PEX2 | PEX2 gene | PMP35 | PXMP3 | RNF72 | ZWS3 | Zellweger syndrome | peroxin 2 | peroxisomal biogenesis factor 2 OMIM2016_04_17:170993 C1970757 Tooth agenesis, selective, x-linked, 1 HYPODONTIA/OLIGODONTIA, X-LINKED, 1 | Hypodontia-Oligodontia, X-Linked, 1 | STHAGX1 | TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 | Tooth Agenesis, Selective, X-Linked, 1 MSH2017_2016_08_12:C567060|OMIM2016_04_17:300451|OMIM2016_04_17:313500 C1863727 Hemophagocytic lymphohistiocytosis, familial, 2 FHL2 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 | HLH2 | HPLH2 | Hemophagocytic lymphohistiocytosis, familial, 2 MSH2017_2016_08_12:C537250|OMIM2016_04_17:170280|OMIM2016_04_17:603553 C0796133 Ramon syndrome CHERUBISM, GINGIVAL FIBROMATOSIS, EPILEPSY, MENTAL DEFICIENCY, HYPERTRICHOSIS, AND STUNTED GROWTH | Gingival fibromatosis combined with cherubism | RAMON SYNDROME | Ramon Syndrome | Ramon syndrome | cherubism-gingival fibromatosis-epilepsy-mental deficiency syndrome | gingival fibromatosis-hypertrichosis-cherubism-mental retardation-epilepsy syndrome JABL99:A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur. MSH2017_2016_08_12:C535285|OMIM2016_04_17:266270 C2981624 Stage i intrahepatic cholangiocarcinoma Stage I Intrahepatic Cholangiocarcinoma | Stage I Intrahepatic Cholangiocarcinoma AJCC v7 NCI2016_02D:Stage I includes: T1, N0, M0. T1: Solitary tumor without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.) C0206146 Myocardial stunning Myocardial Stunning | Myocardial Stunning [Disease/Finding] | Myocardial stunning | Stunning, Myocardial MSH2017_2016_08_12:Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity. MSH2017_2016_08_12:D017682 C2673257 Epilepsy, progressive myoclonic 3 CEROID LIPOFUSCINOSIS, NEURONAL, 14 | CLN14 | EPILEPSY, PROGRESSIVE MYOCLONIC 3 | EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS | EPM3 | Epilepsy, Progressive Myoclonic 3 MSH2017_2016_08_12:C567095|OMIM2016_04_17:611726 C4015160 Pontocerebellar hypoplasia, type 1c HYPOMYELINATION WITH SPINAL MUSCULAR ATROPHY AND CEREBELLAR HYPOPLASIA | PCH1C | PONTOCEREBELLAR HYPOPLASIA, TYPE 1C OMIM2016_04_17:606019|OMIM2016_04_17:616081 C2931026 Choroidal atrophy alopecia Choroidal atrophy alopecia | Moloney syndrome | Regional choroidal atrophy and alopecia MSH2017_2016_08_12:C535810 C0279549 Philadelphia chromosome negative chronic myelogenous leukemia CGL, Philadelphia chromosome negative | CML, Philadelphia chromosome negative | Ph Negative CML | Ph Negative Chronic Myelogenous Leukemia | Ph' Chromosome Negative Chronic Granulocytic Leukemia | Ph' Chromosome Negative Chronic Myelocytic Leukemia | Ph' Chromosome Negative Chronic Myeloid Leukemia | Ph' Negative Chronic Granulocytic Leukemia | Ph' negative chronic myelogenous leukemia | Ph- CML | Ph- Chronic Myelogenous Leukemia | Ph1 Chromosome Negative Chronic Myelocytic Leukemia | Ph1 Chromosome Negative Chronic Myelogenous Leukemia | Ph1 negative CML | Ph1 negative chronic myelogenous leukemia | Philadelphia Chromosome Negative BCR-ABL1 Positive Chronic Myelogenous Leukemia | Philadelphia Chromosome Negative CML | Philadelphia Chromosome Negative Chronic Granulocytic Leukemia | Philadelphia Chromosome Negative Chronic Myelocytic Leukemia | Philadelphia Chromosome Negative Chronic Myelogenous Leukemia | Philadelphia Chromosome Negative Chronic Myeloid Leukemia | Philadelphia Chromosome Negative, BCR-ABL1 Positive Chronic Myelogenous Leukemia | Philadelphia chromosome negative chronic myelogenous leukaemia | Philadelphia chromosome negative chronic myelogenous leukemia | Philadelphia chromosome negative chronic myelogenous leukemia (diagnosis) | Philadelphia chromosome negative chronic myelogenous leukemia (disorder) | chronic granulocytic leukemia, Philadelphia chromosome negative | chronic myelocytic leukemia, Philadelphia chromosome negative | chronic myelogenous leukemia philadelphia chromosome negative | chronic myelogenous leukemia, Philadelphia chromosome negative | granulocytic leukemia, chronic, Philadelphia chromosome negative | myelocytic leukemia, chronic, Philadelphia chromosome negative | myelogenous leukemia, chronic, Philadelphia chromosome negative NCI2016_02D:A chronic myelogenous leukemia which does not have the characteristic t(9;22)(q34;q11.2) translocation but it has either a variant translocation or a cryptic translocation that can not be detected by conventional cytogenetic analysis. In such cases the BCR-ABL1 fusion gene is always detected by RT-PCR, FISH, or Southern blot analysis. SNOMEDCT_US_2016_09_01:449386007 C4021799 Restrictive behavior Restricted behavior | Restrictive behavior | Restrictive behaviour HPO2016_07_04:Behavior characterized by an abnormal limitation to few interests and activities. [HPO:probinson] HPO2016_07_04:HP:0000723 C0006542 Byssinosis BYSSINOSIS | Brown Lung | Brown Lung Disease | Brown Lung Diseases | Brown Lungs | Byssinoses | Byssinosis | Byssinosis (disorder) | Byssinosis [Disease/Finding] | Cotton workers' lung disease | Cotton-dust asthma | Mill fever | Mill fever (disorder) | brown lung | byssinosis | byssinosis (diagnosis) | cotton dust asthma | cotton mill fever | disease (or disorder); respiratory tract, due to cotton dust | fibrosis; lung, with byssinosis | lung; fibrosis, with byssinosis | occupational asthma (byssinosis) CSP2006:airway obstruction due to the dust inhaled during the processing of cotton. | MSH2017_2016_08_12:A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest. | NCI2016_02D:An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week. ICD10CM_2017:J66.0|MSH2017_2016_08_12:D002095|SNOMEDCT_US_2016_09_01:155589004|SNOMEDCT_US_2016_09_01:233689004|SNOMEDCT_US_2016_09_01:266400008|SNOMEDCT_US_2016_09_01:85761009 C0151945 Thrombosis of cerebral veins Blood clot in cerebral vein | CEREBRAL VENOUS THROMBOSIS | Cerebral thrombosis | Cerebral vein thrombosis | Cerebral venous thrombosis | THROMBOSIS CEREBRAL VEIN | Thrombosis cerebral vein | Thrombosis of cerebral veins | Thrombosis of cerebral veins (disorder) | cerebral thrombosis venous | cerebral vein thrombosis | cerebral vein thrombosis (diagnosis) | cerebral venous thrombosis HPO2016_07_04:Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. [HPO:probinson] HPO2016_07_04:HP:0005305|OMIM2016_04_17:MTHU015922|OMIM2016_04_17:MTHU019519|SNOMEDCT_US_2016_09_01:95455008 C0035126 Reperfusion injury Damage, Reperfusion | Damages, Reperfusion | Injuries, Ischemia-Reperfusion | Injuries, Reperfusion | Injury, Ischemia Reperfusion | Injury, Ischemia-Reperfusion | Injury, Reperfusion | Ischaemia-reperfusion injury | Ischemia Reperfusion Injury | Ischemia-Reperfusion Injuries | Ischemia-Reperfusion Injury | Ischemia-reperfusion injury | Ischemia-reperfusion injury (morphologic abnormality) | Reperfusion Damage | Reperfusion Damages | Reperfusion Injuries | Reperfusion Injury | Reperfusion Injury [Disease/Finding] | Reperfusion injury | injury reperfusion | ischemia reperfusion injury | ischemia-reperfusion injury | reperfusion damage | reperfusion injury MSH2017_2016_08_12:Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (REPERFUSION), including swelling; HEMORRHAGE; NECROSIS; and damage from FREE RADICALS. The most common instance is MYOCARDIAL REPERFUSION INJURY. MSH2017_2016_08_12:D015427|SNOMEDCT_US_2016_09_01:703868004 C0269114 Endometriosis, vulva Endometriosis of vulva | Endometriosis of vulva (disorder) | Endometriosis, vulva | vulvar endometriosis | vulvar endometriosis (diagnosis) SNOMEDCT_US_2016_09_01:38780008 C1864105 Low urinary cyclic amp response to pth administration Low urinary cyclic AMP response to PTH administration HPO2016_07_04:HP:0003456|OMIM2016_04_17:MTHU005119 C1846176 Hyperactive deep tendon reflexes Brisk deep tendon reflexes | Hyperactive deep tendon reflexes | hyperactive deep tendon reflexes | hyperactive deep tendon reflexes (physical finding) HPO2016_07_04:HP:0006801|OMIM2016_04_17:MTHU008526|OMIM2016_04_17:MTHU016609 C1858673 Generalized epilepsy with febrile seizures plus, type 2 GEFS+, TYPE 2 | GEFS+2 | GEFS, Type 2 | GEFSP2 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 | Generalized Epilepsy With Febrile Seizures Plus, Type 2 MSH2017_2016_08_12:C565810|OMIM2016_04_17:182389|OMIM2016_04_17:604403 C0025297 Viral meningitis Abacterial meningitis | Aseptic meningitis, viral | MENINGITIS VIRAL | Meningitides, Viral | Meningitis - viral NOS | Meningitis - viral NOS (disorder) | Meningitis viral | Meningitis viral NOS | Meningitis, Viral | Meningitis, Viral [Disease/Finding] | Meningitis, viral | Unspecified viral meningitis | Viral Meningitides | Viral Meningitis | Viral meningitis | Viral meningitis (disorder) | Viral meningitis NOS | Viral meningitis NOS (disorder) | Viral meningitis, unspecified | Viral meningitis,unspecifd | [X]Viral meningitis, unspecified | [X]Viral meningitis, unspecified (disorder) | [X]Viral meningitis,unspecifd | abacterial; meningitis | aseptic meningitis viral | aseptic viral meningitis | infection; viral, central nervous system, meningitis | meningitis - viral | meningitis viral | meningitis; abacterial | meningitis; viral | viral meningitis | viral meningitis (diagnosis) | viral; infection, central nervous system, meningitis | virus; meningitis CSP2006:viral infections of the leptomeninges and subarachnoid space. | MSH2017_2016_08_12:Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RHABDOVIRIDAE INFECTIONS; ARENAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; JC VIRUS infections; and RETROVIRIDAE INFECTIONS may cause this form of meningitis. Clinical manifestations include fever, headache, neck pain, vomiting, PHOTOPHOBIA, and signs of meningeal irritation. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3) | NCI2016_02D:Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection. | NCI2016_NICHD_1602D:Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection. ICD10CM_2017:A87|ICD10CM_2017:A87.9|ICD9CM_2014:047.9|MSH2017_2016_08_12:D008587|SNOMEDCT_US_2016_09_01:154321007|SNOMEDCT_US_2016_09_01:154984006|SNOMEDCT_US_2016_09_01:154985007|SNOMEDCT_US_2016_09_01:186490006|SNOMEDCT_US_2016_09_01:187403007|SNOMEDCT_US_2016_09_01:192672003|SNOMEDCT_US_2016_09_01:266097006|SNOMEDCT_US_2016_09_01:266190006|SNOMEDCT_US_2016_09_01:267575007|SNOMEDCT_US_2016_09_01:267680008|SNOMEDCT_US_2016_09_01:58170007 C0399496 Granulomatoses, orofacial Granulomatoses, Orofacial | Granulomatosis, Orofacial | Granulomatosis, Orofacial [Disease/Finding] | OFG - Orofacial granulomatosis | Orofacial Granulomatoses | Orofacial Granulomatosis | Orofacial granulomatosis | Orofacial granulomatosis (disorder) MSH2017_2016_08_12:A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease. MSH2017_2016_08_12:D051261|SNOMEDCT_US_2016_09_01:235048000 C4015525 Lissencephaly 6 with microcephaly LIS6 | LISSENCEPHALY 6 WITH MICROCEPHALY | LISSENCEPHALY 6, WITH MICROCEPHALY OMIM2016_04_17:602703|OMIM2016_04_17:616212 C4024900 Brainstem atrophy Atrophy/Degeneration affecting the brainstem | Brainstem atrophy HPO2016_07_04:HP:0007366|OMIM2016_04_17:MTHU028612 C2749137 Retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS | Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness MSH2017_2016_08_12:C567595|OMIM2016_04_17:300455|OMIM2016_04_17:312610 C0008526 Choroiditis CHOROIDITIS | Choroid inflamed | Choroiditides | Choroiditis | Choroiditis (disorder) | Choroiditis NOS | Choroiditis NOS (disorder) | Choroiditis [Disease/Finding] | Choroiditis, NOS | Inflammation of choroid | choroid; inflammation | choroiditis | choroiditis (diagnosis) | choroiditis (physical finding) | choroiditis was present | inflammation; choroid | uveal tract choroiditis CSP2006:inflammation of the choroid, the membrane covering most of the posterior of the eye between the retina and sclera. | MSH2017_2016_08_12:Inflammation of the choroid. HPO2016_07_04:HP:0012123|ICD10CM_2017:H30.9|MSH2017_2016_08_12:D002833|SNOMEDCT_US_2016_09_01:16553002|SNOMEDCT_US_2016_09_01:193449000 C0023076 Laryngotracheitis, nos Laryngotracheitis | Laryngotracheitis (disorder) | Laryngotracheitis NOS | Laryngotracheitis, NOS | Tracheitis with laryngitis | laryngitis; tracheitis | laryngotracheitis | laryngotracheitis (diagnosis) | tracheitis; laryngitis ICD10CM_2017:J04.2|SNOMEDCT_US_2016_09_01:195694004|SNOMEDCT_US_2016_09_01:275494000|SNOMEDCT_US_2016_09_01:55130001 C1844936 Spinocerebellar ataxia, x-linked 3 ATAXIA-DEAFNESS SYNDROME, X-LINKED | Ataxia-deafness syndrome X-linked | Ataxia-deafness syndrome, X-linked | SCAX3 | SPINOCEREBELLAR ATAXIA, X-LINKED 3 | Schmidley syndrome | Spinocerebellar Ataxia, X-Linked 3 | Spinocerebellar ataxia, X-linked, 3 | ataxia-deafness syndrome JABL99:A progressive disorder of the central nervous system characterized by ataxia, deafness, hypotonia, developmental delay, esotropia, and optic atrophy. MSH2017_2016_08_12:C537315|OMIM2016_04_17:301790 C1835888 Diarrhea 4, malabsorptive, congenital DIAR4 | DIARRHEA 4, MALABSORPTIVE, CONGENITAL | Diarrhea 4, Malabsorptive, Congenital | ENTERIC ANENDOCRINOSIS | Enteric Anendocrinosis MSH2017_2016_08_12:C563673|OMIM2016_04_17:604882|OMIM2016_04_17:610370 C0398777 Complement factor h deficiency CFH DEFICIENCY | CFH Deficiency | CFHD | COMPLEMENT FACTOR H DEFICIENCY | Complement Factor H Deficiency | FACTOR H DEFICIENCY | Factor H Deficiency | Factor H deficiency | Factor H deficiency (diagnosis) | Factor H deficiency (disorder) MSH2017_2016_08_12:C562875|OMIM2016_04_17:134370|OMIM2016_04_17:609814|SNOMEDCT_US_2016_09_01:234622003 C0393722 Eyelid myoclonus with absences Eyelid myoclonus with absences | Eyelid myoclonus with absences (disorder) | Photomyoclonus SNOMEDCT_US_2016_09_01:230447004 C1860822 Trichodysplasia-xeroderma TRICHODYSPLASIA-XERODERMA | Trichodysplasia-Xeroderma MSH2017_2016_08_12:C566032|OMIM2016_04_17:190360 C3280371 Neurodegeneration with brain iron accumulation 4 MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION | MPAN | Mitochondrial membrane protein associated neurodegeneration | Mitochondrial membrane protein associated neurodegeneration (disorder) | Mitochondrial protein associated neurodegeneration | NBIA4 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 | Neurodegeneration with brain iron accumulation 4 OMIM2016_04_17:614297|OMIM2016_04_17:614298|SNOMEDCT_US_2016_09_01:709415008 C0038000 Spleen rupture Disruption of spleen | Fragmentation of spleen | Pulped spleen | RUPTURE OF SPLEEN | RUPTURE SPLEEN | Rupture of spleen | Rupture of spleen (disorder) | Rupture spleen | Rupture, Splenic | Rupture;spleen | Ruptured spleen | Ruptured spleen NOS | Ruptured spleen NOS (disorder) | Ruptures, Splenic | SPLEEN RUPTURE | SPLEEN RUPTURE OF | SPLEEN, RUPTURE | SPLENIC RUPTURE | Spleen rupture of | Splenic Rupture | Splenic Rupture [Disease/Finding] | Splenic Ruptures | Splenic rupture | rupture of spleen | rupture of the spleen | rupture spleen | rupture splenic | rupture; spleen | ruptured spleen | ruptures spleen | spleen fragmentation | spleen rupture | spleen ruptured | spleen; rupture | splenic rupture | splenic rupture (diagnosis) HPO2016_07_04:A breach of the capsule of the spleen. [HPO:probinson] | MSH2017_2016_08_12:Rupture of the SPLEEN due to trauma or disease. HPO2016_07_04:HP:0012223|MSH2017_2016_08_12:D013161|SNOMEDCT_US_2016_09_01:210196007|SNOMEDCT_US_2016_09_01:234506007|SNOMEDCT_US_2016_09_01:262817009 C0005395 Bile duct diseases BILE DUCT DISEASE | Bile Duct Disease | Bile Duct Diseases | Bile Duct Diseases [Disease/Finding] | Bile Duct Disorder | Bile duct disorder NOS | Bile duct disorder NOS (disorder) | Bile duct disorders | Bile ducts--Diseases | Disease of bile duct | Disease of bile duct (disorder) | Disease, Bile Duct | Diseases, Bile Duct | Disorder of bile duct | Disorder of bile duct (disorder) | Duct Disease, Bile | Duct Diseases, Bile | bile diseases ducts | bile duct disease | bile duct diseases | bile duct disorders | biles diseases ducts MEDLINEPLUS_20151021:Your liver makes a substance called bile that helps with digestion. Your gallbladder stores it until you need it to digest fat. Then your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine.
Different diseases can block the bile ducts and cause a problem with the flow of bile. Gallstones are one of the most common causes of blocked bile ducts. Blocked bile ducts may also result from infection, cancer or internal scar tissue. Scarring can block the bile ducts, which can lead to liver failure.
A rare form of bile duct disease called biliary atresia occurs in infants. It is the most common reason for liver transplants in children in the United States.
| MSH2017_2016_08_12:Diseases in any part of the ductal system of the BILIARY TRACT from the smallest BILE CANALICULI to the largest COMMON BILE DUCT. | NCI2016_02D:A non-neoplastic or neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples of non-neoplastic disorders include cholangitis and biliary atresia. Representative examples of neoplastic disorders include extrahepatic bile duct adenoma and cholangiocarcinoma. MSH2017_2016_08_12:D001649|SNOMEDCT_US_2016_09_01:118926004|SNOMEDCT_US_2016_09_01:197455006 C1561842 Idiopathic insomnia Idiopathic insomnia | Idiopathic insomnia (disorder) ICD10CM_2017:F51.01|SNOMEDCT_US_2016_09_01:3972004|SNOMEDCT_US_2016_09_01:426257002 C1302763 Disorder of body wall Disorder of body wall | Disorder of body wall (disorder) SNOMEDCT_US_2016_09_01:399986003 C0406438 Pterygium of nail Nail pterygium | Pterygium of nail | Pterygium of nail (disorder) | Pterygium of nails | Pterygium unguis | nail pterygium | nails pterygium | pterygium of nail | pterygium of nail (physical finding) HPO2016_07_04:Inward advance of skin over the nail plate. [HPO:probinson] HPO2016_07_04:HP:0002165|SNOMEDCT_US_2016_09_01:110987009|SNOMEDCT_US_2016_09_01:247521006 C0275654 Salpingitis gonococcal acute Acute gonococcal salpingitis | Acute gonococcal salpingitis (disorder) | Gonococcal salpingitis acute | Gonococcal salpingitis, specified as acute | SALPINGITIS GONOCOCCAL ACUTE | Salpingitis gonococcal acute | acute gonococcal salpingitis | acute gonococcal salpingitis (diagnosis) ICD9CM_2014:098.17|SNOMEDCT_US_2016_09_01:45377007 C0029420 Osteochondritis OSTEOCHONDRITIS | Osteochondritides | Osteochondritis | Osteochondritis (disorder) | Osteochondritis NOS | Osteochondritis NOS (disorder) | Osteochondritis [Disease/Finding] | Osteochondritis not specified as adult or juvenile, of unspecified site | Osteochondritis, NOS | osteochondritis CSP2006:inflammation of both bone and cartilage. | MSH2017_2016_08_12:Inflammation of a bone and its overlaying CARTILAGE. ICD10CM_2017:M93.9|MSH2017_2016_08_12:D010007|SNOMEDCT_US_2016_09_01:156822009|SNOMEDCT_US_2016_09_01:203424002|SNOMEDCT_US_2016_09_01:203425001|SNOMEDCT_US_2016_09_01:268027006|SNOMEDCT_US_2016_09_01:268125000|SNOMEDCT_US_2016_09_01:70736000 C1855114 Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY MMA DUE TO MCM DEFICIENCY | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY | METHYLMALONIC ACIDURIA, mut TYPE | MMA due to MCM Deficiency | Methylmalonic Acidemia due to Methylmalonyl-CoA Mutase Deficiency | Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | Methylmalonic Aciduria, MUT Type MSH2017_2016_08_12:C565390|OMIM2016_04_17:251000 C2698307 B acute lymphoblastic leukemia with t(5;14)(q31;q32); il3-igh B Acute Lymphoblastic Leukemia with t(5;14)(q31;q32); IL3-IGH | B-Acute Lymphoblastic Leukemia with t(5;14)(q31;q32); IL3-IGH | B-Cell Acute Lymphoblastic Leukemia with t(5;14)(q31;q32); IL3-IGH NCI2016_02D:A rare B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14. It results in eosinophilia. C3275487 Cerebral-cerebellar-coloboma syndrome, x-linked CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED OMIM2016_04_17:300864 C1336921 Endometrial serous adenocarcinoma Endometrial Serous Adenocarcinoma | Serous endometrial adenocarcinoma | Uterine Corpus Serous Adenocarcinoma NCI2016_02D:A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor. C0151564 Cogwheel rigidity COG WHEEL RIGIDITY | COGWHEEL RIGIDITY | Cog-wheel rigidity | Cogwheel Rigidities | Cogwheel Rigidity | Cogwheel muscle rigidity | Cogwheel muscle rigidity (finding) | Cogwheel rigidity | Muscle(s) Cogwheel Rigidity | RIGIDITY COGWHEEL | Rigidities, Cogwheel | Rigidity cogwheel | Rigidity, Cogwheel | cogwheel rigidity | cogwheel rigidity (physical finding) | cogwheel rigidity was noted HPO2016_07_04:HP:0002396|MSH2017_2016_08_12:D009127|OMIM2016_04_17:MTHU003327|SNOMEDCT_US_2016_09_01:55630000 C1854022 Otosclerosis 2 OTOSCLEROSIS 2 | OTSC2 | Otosclerosis 2 MSH2017_2016_08_12:C565302|OMIM2016_04_17:605727 C1849485 Neuronal loss in the cerebral cortex Neuronal loss in the cerebral cortex HPO2016_07_04:HP:0007190|OMIM2016_04_17:MTHU009760 C1336044 Spine lymphoma Lymphoma of Spinal Cord | Lymphoma of the Spinal Cord | Primary Spinal Cord Lymphoma | SPINE LYMPHOMA | Spinal Cord Lymphoma | lymphoma of spinal cord | lymphoma of spinal cord (diagnosis) | lymphoma spine | spine lymphoma NCI2016_02D:A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion. C2931759 Acquired pure megakaryocytic aplasia Acquired pure megakaryocytic aplasia MSH2017_2016_08_12:C538176 C0494158 Malignant neoplasm of kidney, except renal pelvis Malignant Kidney Neoplasm Except Pelvis | Malignant Neoplasm of Kidney Except Pelvis | Malignant neoplasm of kidney, except pelvis | Malignant neoplasm of kidney, except renal pelvis | Malignant neoplasm of kidney, excl pelvis | Malignant neoplasm of kidney, excluding pelvis NCI2016_02D:A malignant neoplasm that affects the renal parenchyma but not the pelvis. ICD10CM_2017:C64|ICD9CM_2014:189.0 C0393671 Benign frontal childhood epilepsy Benign Frontal Childhood Epilepsy | Benign frontal epilepsy of childhood | Benign frontal epilepsy of childhood (disorder) | Childhood Benign Frontal Epilepsy | Epilepsy, Benign Frontal, Childhood | Frontal Epilepsy, Benign, Childhood MSH2017_2016_08_12:D017034|SNOMEDCT_US_2016_09_01:230382002 C0026010 Microphthalmos Congenital microphthalmos | Globe of eye small | MICROPHTHALMIA | MICROPHTHALMOS | Microphthalmia | Microphthalmos | Microphthalmos (disorder) | Microphthalmos NOS | Microphthalmos NOS (disorder) | Microphthalmos [Disease/Finding] | Microphthalmos, NOS | Microphthalmos, unspecified | Microphthalmos, unspecified (disorder) | Nanophthalmos | Simple microphthalmos | Simple microphthalmos (disorder) | Small eyeball | Unspecified microphthalmos NOS | Unspecified microphthalmos NOS (disorder) | congenital microphthalmos | congenital microphthalmos (diagnosis) | eye findings microphthalmia | microphthalmia | microphthalmia (physical finding) | microphthalmia was observed | microphthalmos | nanophthalmos | simple congenital microphthalmos | simple congenital microphthalmos (diagnosis) CSP2006:congenital or developmental anomaly in which the eyeballs are abnormally small. | HPO2016_07_04:A developmental anomaly characterized by abnormal smallness of one or both eyes. [HPO:probinson] | MSH2017_2016_08_12:Congenital or developmental anomaly in which the eyeballs are abnormally small. | NCI2016_02D:A congenital abnormality characterized by the presence of an abnormally small eye globe. HPO2016_07_04:HP:0000568|ICD10CM_2017:Q11.2|ICD9CM_2014:743.1|ICD9CM_2014:743.10|ICD9CM_2014:743.11|MSH2017_2016_08_12:D008850|OMIM2016_04_17:MTHU036342|OMIM2016_04_17:MTHU036527|SNOMEDCT_US_2016_09_01:156902006|SNOMEDCT_US_2016_09_01:204104003|SNOMEDCT_US_2016_09_01:204107005|SNOMEDCT_US_2016_09_01:204108000|SNOMEDCT_US_2016_09_01:204110003|SNOMEDCT_US_2016_09_01:268310007|SNOMEDCT_US_2016_09_01:61142002 C1963107 Euphoria adverse event Euphoria | Euphoria Adverse Event C0520679 Sleep apnea, obstructive APNEA, OBSTRUCTIVE SLEEP | Apnea, Obstructive Sleep | Apnea, obstructive | Apneas, Obstructive Sleep | OBSTRUCTIVE SLEEP APNEA SYNDROME | OSA | OSA - Obstructive sleep apnea | OSA - Obstructive sleep apnoea | OSAHS | OSAS | Obstructive Apnea | Obstructive Sleep Apnea | Obstructive Sleep Apnea Syndrome | Obstructive Sleep Apneas | Obstructive apnea | Obstructive sleep apnea | Obstructive sleep apnea (adult) (pediatric) | Obstructive sleep apnea (adult)(pediatric) | Obstructive sleep apnea syndrome | Obstructive sleep apnea syndrome (disorder) | Obstructive sleep apnoea | Obstructive sleep apnoea (disorder) | Obstructive sleep apnoea syndrome | SAHS | SLEEP APNEA/HYPOPNEA SYNDROME | Sleep Apnea Hypopnea Syndrome | Sleep Apnea Syndrome, Obstructive | Sleep Apnea, Obstructive | Sleep Apnea, Obstructive [Disease/Finding] | Sleep Apneas, Obstructive | Sleep apnea (& [obstructive]) | Sleep apnoea (& [obstructive]) | Sleep apnoea (& [obstructive]) (disorder) | Syndrome, Obstructive Sleep Apnea | Syndrome, Sleep Apnea, Obstructive | apnea obstructive sleep | apnea obstructive sleeping | obstructive sleep apnea | obstructive sleep apnea (diagnosis) | obstructive sleep apnea syndrome | obstructive sleep apnoea | obstructive sleep osa apnea | sleep apnea obstructive syndrome HPO2016_07_04:A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow. [HPO:probinson] | MSH2017_2016_08_12:A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395) | NCI2016_02D:A disorder characterized by recurrent episodic disruptions of breathing during sleep. It is caused by the intermittent relaxation of pharyngeal muscles leading to the narrowing or complete blockage of the upper airway. This results in compensatory arousal from sleep to breathe again. An anatomically narrow airway from body habitus or enlarged pharyngeal structures may also predispose to obstruction. Clinical presentation usually includes snoring, daytime sleepiness, difficulty concentrating and fatigue. Clinical course may progress to chronic hypoxemia with cardiovascular and cerebrovascular sequelae. | NCI2016_02D:Cessation of air flow during sleep due to upper airway obstruction. | NCI2016_NICHD_1602D:Cessation of air flow during sleep due to upper airway obstruction. HPO2016_07_04:HP:0002870|ICD10CM_2017:G47.33|ICD9CM_2014:327.23|MSH2017_2016_08_12:D020181|OMIM2016_04_17:107650|OMIM2016_04_17:MTHU001467|OMIM2016_04_17:MTHU037141|OMIM2016_04_17:MTHU043402|SNOMEDCT_US_2016_09_01:194441007|SNOMEDCT_US_2016_09_01:196167006|SNOMEDCT_US_2016_09_01:78275009 C2750080 Diamond-blackfan anemia 10 DBA10 | DIAMOND-BLACKFAN ANEMIA 10 | Diamond-Blackfan Anemia 10 MSH2017_2016_08_12:C567649|OMIM2016_04_17:603701|OMIM2016_04_17:613309 C0432194 Schneckenbecken dysplasia CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS | Chondrodysplasia, lethal neonatal, with snail-like pelvis | SCHNECKENBECKEN DYSPLASIA | Schneckenbecken dysplasia | Schneckenbecken dysplasia (disorder) MSH2017_2016_08_12:C536637|OMIM2016_04_17:269250|OMIM2016_04_17:610804|SNOMEDCT_US_2016_09_01:254049009 C0030424 Paragonimiasis DISTOMIASIS, PULMONARY | Endemic haemoptysis | Endemic hemoptysis | HEMOPTYSIS, ENDEMIC | Infection by Paragonimus | Infection by Paragonimus (disorder) | Infection by Paragonimus, NOS | Infection caused by Paragonimus | Infection caused by Paragonimus (disorder) | Infection, Paragonimus westermani | Infections, Paragonimus westermani | Lung fluke disease | Lung fluke infection | Lung fluke infection (disorder) | PARAGONIMIASIS | Paragonimiases | Paragonimiasis | Paragonimiasis [Disease/Finding] | Paragonimosis | Paragonimus westermani Infection | Paragonimus westermani Infections | Paragonimus westermani infection | Paragonimus; infestation | Pulmonary distomatosis | Pulmonary distomiasis | Pulmonary paragonimiasis | Pulmonary paragonimiasis (disorder) | disease (or disorder); lung, fluke | fluke disease; lung | infestation; Paragonimus | lung fluke infection | lung; disease, fluke | lung; fluke disease | paragonimiasis | paragonimiasis (diagnosis) | pulmonary paragonimiasis | pulmonary paragonimiasis (diagnosis) | westermani Infection, Paragonimus | westermani Infections, Paragonimus MSH2017_2016_08_12:Infection with TREMATODA of the genus PARAGONIMUS. | NCI2016_02D:A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia. ICD10CM_2017:B66.4|ICD9CM_2014:121.2|MSH2017_2016_08_12:D010237|SNOMEDCT_US_2016_09_01:240807004|SNOMEDCT_US_2016_09_01:240808009|SNOMEDCT_US_2016_09_01:30369007 C0011606 Exfoliative dermatitis DERMATITIS EXFOLIATIVE | DERMATITIS, EXFOLIATIVE | DERMATITIS, EXFOLIATIVE, GENERALIZED | Dermatitides, Exfoliative | Dermatitis Exfoliativa | Dermatitis exfoliative | Dermatitis exfoliative NOS | Dermatitis exfoliative generalised | Dermatitis exfoliative generalized | Dermatitis, Exfoliative | Dermatitis, Exfoliative [Disease/Finding] | ERYTHRODERMA | ERYTHRODERMA EXFOLIATIVE | ERYTHRODERMA, EXFOLIATIVE | EXFOLIATIVE DERMATITIS | Eryhtroderma | Erythematous eczema | Erythroderm | Erythroderma | Erythroderma (disorder) | Erythroderma NOS | Erythroderma, generalized | Erythrodermas | Erythrodermatitis | Erythrodermic eczema | Erythrodermic eczema (disorder) | Exfoliative Dermatitides | Exfoliative Dermatitis | Exfoliative dermatitis | Exfoliative dermatitis NOS | Exfoliative dermatitis, generalized | Exfoliative dermititis | Generalised erythroderma | Generalised exfoliative dermatitis | Generalized erythroderma | Generalized erythroderma (disorder) | Generalized erythrodermia | Generalized exfoliative dermatitis | Generalized exfoliative dermatitis (disorder) | Hebra's pityriasis | Hebra; pityriasis | Pityriasis Hebra | Pityriasis rubra | Pityriasis rubra (Hebra) | Pityriasis rubra (Hebra) (disorder) | Pityriasis rubra of Hebra | WILSON-BROCQ DISEASE | Wilson-Brocq's disease | dermatitis exfoliative | dermatitis; exfoliative | dermatosis; exfoliativa | erythroderma | erythroderma (diagnosis) | erythrodermas | exfoliativa; dermatosis | exfoliative dermatitis | exfoliative erythroderma | exfoliative; dermatitis | pityriasis rubra | pityriasis; Hebra CSP2006:widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease; often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. | HPO2016_07_04:An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. [HPO:probinson] | MSH2017_2016_08_12:The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed) | NCI2016_02D:A generalized inflammatory cutaneous disorder characterized by erythema and desquamation.(NICHD) | NCI2016_CTCAE_1602D:A disorder characterized by generalized inflammatory erythema and exfoliation. The inflammatory process involves > 90% of the body surface area. | NCI2016_NICHD_1602D:A generalized inflammatory cutaneous disorder characterized by erythema and desquamation. HPO2016_07_04:HP:0001019|ICD10CM_2017:L26|ICD10CM_2017:L53.9|MSH2017_2016_08_12:D003873|OMIM2016_04_17:MTHU010703|OMIM2016_04_17:MTHU029315|OMIM2016_04_17:MTHU042621|SNOMEDCT_US_2016_09_01:123702007|SNOMEDCT_US_2016_09_01:200888009|SNOMEDCT_US_2016_09_01:200948000|SNOMEDCT_US_2016_09_01:396349005|SNOMEDCT_US_2016_09_01:396350005|SNOMEDCT_US_2016_09_01:399992009|SNOMEDCT_US_2016_09_01:400005007|SNOMEDCT_US_2016_09_01:45491002|SNOMEDCT_US_2016_09_01:55012006 C3150208 Retinitis pigmentosa 53 RETINITIS PIGMENTOSA 53 | RP53 OMIM2016_04_17:608830|OMIM2016_04_17:612712 C0271375 Cranial nerve palsy iv trochlear 4th nerve palsy | CRANIAL NERVE PALSY IV TROCHLEAR | Cranial Nerve IV Diseases | Disorder of cranial nerve 4 | Disorder of trochlear nerve | Disorder of trochlear nerve (diagnosis) | Disorder of trochlear nerve (disorder) | Fourth Cranial Nerve Diseases | Fourth Cranial Nerve Palsy | Fourth Nerve Palsies | Fourth Nerve Palsy | Fourth [trochlear] nerve palsy | Fourth cranial nerve disease | Fourth cranial nerve disease (disorder) | Fourth cranial nerve disease or syndrome | Fourth cranial nerve disease, NOS | Fourth cranial nerve disorder | Fourth cranial nerve disorder, NOS | Fourth cranial nerve palsy | Fourth cranial nerve paralysis | Fourth cranial nerve paresis | Fourth cranial nerve paresis (disorder) | Fourth nerve palsy | Fourth nerve palsy (disorder) | Fourth nerve paralysis | Fourth nerve paresis | Fourth or trochlear nerve palsy | IV nerve palsy | IV thnerve palsy | IVth Cranial Nerve Disorder | IVth nerve disorder | IVth nerve palsy | IVth nerve paralysis | IVth nerve paresis | Palsies, Fourth Nerve | Palsies, Trochlear Nerve | Palsy, Fourth Nerve | Palsy, Trochlear Nerve | Palsy;IV nerve | Paresis of fourth cranial nerve | Superior oblique muscle innervation disorder | Superior oblique muscle innervation disorder (disorder) | Superior oblique palsy | Trochlear Nerve Diseases | Trochlear Nerve Diseases [Disease/Finding] | Trochlear Nerve Disorder | Trochlear Nerve Disorders | Trochlear Nerve Palsies | Trochlear Nerve Palsy | Trochlear Neuropathy | Trochlear nerve disease | Trochlear nerve disease or syndrome | Trochlear nerve disease, NOS | Trochlear nerve disorder | Trochlear nerve disorder, NOS | Trochlear nerve palsy | Trochlear nerve paralysis | Trochlear nerve weakness | disease (or disorder); cranial nerve, fourth | disease (or disorder); trochlear nerve | disorder trochlear nerve | fourth cranial nerve palsy | fourth nerve cranial palsy | fourth nerve palsy | fourth nerve palsy (diagnosis) | iv nerve palsy | ivth nerve palsy | n.trochlearis; paralysis | nerve iv palsy | nerve palsies trochlear | paralysis; cranial nerve, fourth | paralysis; trochlear nerve | superior oblique palsy | trochlear nerve palsy HPO2016_07_04:Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly. [ORCIRD:0000-0001-5208-3432] | NCI2016_02D:A non-neoplastic or neoplastic disorder affecting the trochlear nerve (IVth cranial nerve). | NCI2016_CTCAE_1602D:A disorder characterized by involvement of the trochlear nerve (fourth cranial nerve). HPO2016_07_04:HP:0007011|ICD10CM_2017:H49.1|ICD9CM_2014:378.53|MSH2017_2016_08_12:D020432|SNOMEDCT_US_2016_09_01:14904006|SNOMEDCT_US_2016_09_01:20610004|SNOMEDCT_US_2016_09_01:230532006|SNOMEDCT_US_2016_09_01:67883005|SNOMEDCT_US_2016_09_01:6845000 C1883029 Invasive lobular breast carcinoma, signet ring variant Invasive Lobular Breast Carcinoma, Signet Ring Variant | Signet Ring Cell Lobular Breast Carcinoma NCI2016_02D:An invasive lobular carcinoma characterized by the presence of malignant epithelial cells with large intracytoplasmic lumina that cause displacement of the nuclei towards one pole of the cells. C1859194 Griscelli syndrome, type 1 GRISCELLI SYNDROME WITH NEUROLOGIC IMPAIRMENT | GRISCELLI SYNDROME, CUTANEOUS AND NEUROLOGIC TYPE | GRISCELLI SYNDROME, TYPE 1 | GS1 | Griscelli Syndrome, Type 1 | Griscelli syndrome type 1 | Griscelli syndrome with neurologic impairment | Griscelli syndrome, cutaneous and neurologic type | PARTIAL ALBINISM AND PRIMARY NEUROLOGIC DISEASE WITHOUT HEMOPHAGOCYTIC SYNDROME | Partial albinism and primary neurologic disease without hemophagocytic syndrome MSH2017_2016_08_12:C537301|OMIM2016_04_17:160777|OMIM2016_04_17:214450 C1857053 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM | Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum MSH2017_2016_08_12:C565605|OMIM2016_04_17:225040 C0268631 Succinic semialdehyde dehydrogenase deficiency 4 hydroxybutyric aciduria | 4--Hydroxybutyric aciduria | 4-HYDROXYBUTYRIC ACIDURIA | 4-Hydroxybutyricaciduria | 4-hydroxybutyric aciduria | GABA METABOLIC DEFECT | GABA metabolic defect | GABAuria | GAMMA-HYDROXYBUTYRIC ACIDURIA | Gamma-Hydroxybutyric Acidemia | Gamma-Hydroxybutyric Aciduria | Gamma-hydroxybutyric acidaemia | Gamma-hydroxybutyric acidemia | SSADH DEFICIENCY | SSADH Deficiency | SSADHD | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY | Succinate-semialdehyde dehydrogenase deficiency | Succinate-semialdehyde dehydrogenase deficiency (disorder) | Succinic semialdehyde dehydrogenase deficiency | gamma-Hydroxybutyric aciduria | succinate-semialdehyde dehydrogenase deficiency | succinic semialdehyde dehydrogenase deficiency MSH2017_2016_08_12:C535803|OMIM2016_04_17:271980|OMIM2016_04_17:610045|SNOMEDCT_US_2016_09_01:49748000 C1332860 Cauda equina paraganglioma Cauda Equina Paraganglioma | Paraganglioma of Cauda Equina | Paraganglioma of Filum Terminale | Paraganglioma of the Cauda Equina | Paraganglioma of the Filum Terminale | Spinal Paraganglioma NCI2016_02D:An extra-adrenal spinal paraganglioma arising from the cauda equina. It should not be confused with glomus coccygeum, a structure unrelated to paraganglia. Clinically, it may be asymptomatic or present with cauda equina syndrome, lower back pain, or leg pain. C1859447 Hypoplastic ischia Hypoplastic ischia | Hypoplastic ischial bones | Hypoplastic ischii | Hypoplastic ischium HPO2016_07_04:Underdevelopment of the ischium, which forms the lower and back part of the hip bone. [HPO:probinson] HPO2016_07_04:HP:0003175|OMIM2016_04_17:MTHU004119|OMIM2016_04_17:MTHU014157|OMIM2016_04_17:MTHU014853|OMIM2016_04_17:MTHU020507 C0376547 Aromatherapy Aroma Therapies | Aroma Therapy | Aroma therapy | Aromatherapies | Aromatherapy | Aromatherapy (regime/therapy) | Therapies, Aroma | Therapy, Aroma | aromatherapy MSH2017_2016_08_12:The use of fragrances and essences from plants to affect or alter a person's mood or behavior and to facilitate physical, mental, and emotional well-being. The chemicals comprising essential oils in plants has a host of therapeutic properties and has been used historically in Africa, Asia, and India. Its greatest application is in the field of alternative medicine. (From Random House Unabridged Dictionary, 2d ed; from Dr. Atiba Vheir, Dove Center, Washington, D.C.) | NIC2005:Administration of essential oils through massage, topical ointments or lotions, baths, inhalation, douches, or compresses (hot or cold) to calm and soothe, provide pain relief, enhance relaxation and comfort MSH2017_2016_08_12:D019341|SNOMEDCT_US_2016_09_01:394615007 C0398738 Leukocyte adhesion deficiency type 1 LAD | LAD - Leucocyte adhesion deficiency type 1 | LAD - Leukocyte adhesion deficiency type 1 | LAD-Type I | LAD1 | LEUKOCYTE ADHESION DEFICIENCY, TYPE I | LFA-1 deficiency | LFA-I Deficiency | LFA1 IMMUNODEFICIENCY | LYMPHOCYTE FUNCTION-ASSOCIATED ANTIGEN 1 IMMUNODEFICIENCY | Leucocyte adhesion deficiency - type 1 | Leucocyte adhesion molecule deficiency - type 1 | Leukocyte Adhesion Deficiency Type 1 | Leukocyte Adhesion Deficiency, Type I | Leukocyte adhesion deficiency - type 1 | Leukocyte adhesion deficiency - type 1 (disorder) | Leukocyte adhesion deficiency type 1 | Leukocyte adhesion molecule deficiency - type 1 | Lfa1 Immunodeficiency | Lymphocyte function-associated antigen 1 immunodeficiency | Mo-1 deficiency | leukocyte adhesion defect - type I | leukocyte adhesion defect - type I (diagnosis) NCI2016_02D:A rare immunodeficiency with an autosomal recessive pattern of inheritance. It is caused by mutation in the ITGB2 gene on chromosome 21 which codes for the beta subunit of beta-2 integrin (CD18). The mutation results in significantly reduced or absent expression of CD18 on the surface of leukocytes which impairs their ability to migrate and interact with antigens. Initial clinical signs include omphalitis and delayed separation of the umbilical cord. The clinical course is marked by recurrent bacterial and fungal infection without pus formation. In instances where there is < 1% expression of CD18, prognosis is dismal with a high likelihood for life-threatening infection within the first year of life. MSH2017_2016_08_12:C535887|OMIM2016_04_17:116920|SNOMEDCT_US_2016_09_01:234582006 C1848211 Mental retardation with psychosis, pyramidal signs, and macroorchidism MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM | Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism | PPMX MSH2017_2016_08_12:C564724|OMIM2016_04_17:300055 C0525042 Feeding and eating disorders of childhood Childhood Eating and Feeding Disorders | Feeding and Eating Disorders of Childhood | Feeding and Eating Disorders of Childhood [Disease/Finding] MSH2017_2016_08_12:Mental disorders related to feeding and eating usually diagnosed in infancy or early childhood. MSH2017_2016_08_12:D019959 C1846797 Short stature, severe disproportionate Severely disproportionate short stature | Short stature, severe disproportionate HPO2016_07_04:HP:0003498|OMIM2016_04_17:MTHU003638|OMIM2016_04_17:MTHU005318 C1836148 Supranuclear palsy, progressive, 2 PSNP2 | SUPRANUCLEAR PALSY, PROGRESSIVE, 2 | Supranuclear Palsy, Progressive, 2 MSH2017_2016_08_12:C563717|OMIM2016_04_17:609454 C1838280 Epiphyseal dysplasia, multiple, 1 EDM1 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 | Epiphyseal dysplasia, multiple, 1 | MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-RELATED | Multiple epiphyseal dysplasia, COMP-related | Multiple epiphyseal dysplasia, cartilage oligomeric matrix protein related MSH2017_2016_08_12:C535501|OMIM2016_04_17:132400 C0020435 Hyperbilirubinemia, hereditary Hereditary Hyperbilirubinemia | Hereditary Hyperbilirubinemias | Hyperbilirubinemia, Hereditary | Hyperbilirubinemia, Hereditary [Disease/Finding] | Hyperbilirubinemias, Hereditary | hereditary hyperbilirubinemia CSP2006:inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood. | MSH2017_2016_08_12:Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood. | NCI2016_02D:An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome. MSH2017_2016_08_12:D006933 C0036130 Salpingitis Inflammation of fallopian tube | Inflammation of oviduct | Oviductitis | SALPINGITIS | Salpingitides | Salpingitis | Salpingitis (disorder) | Salpingitis NOS | Salpingitis [Disease/Finding] | Salpingitis unspecified | Salpingitis unspecified (disorder) | Salpingitis, NOS | Salpingitis, unspecified | fallopian tube; inflammation | inflammation; fallopian tube | inflammation; oviduct | oviduct; inflammation | salpingitis | salpingitis (diagnosis) CSP2006:inflammation of the fallopian tubes. | MSH2017_2016_08_12:Inflammation of the uterine salpinx, the trumpet-shaped FALLOPIAN TUBES, usually caused by ascending infections of organisms from the lower reproductive tract. Salpingitis can lead to tubal scarring, hydrosalpinx, tubal occlusion, INFERTILITY, and ectopic pregnancy (PREGNANCY, ECTOPIC) | NCI2016_02D:Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. ICD10CM_2017:N70.91|MSH2017_2016_08_12:D012488|SNOMEDCT_US_2016_09_01:155968004|SNOMEDCT_US_2016_09_01:198151009|SNOMEDCT_US_2016_09_01:266648001|SNOMEDCT_US_2016_09_01:88157006 C0410529 Hypochondroplasia (disorder) HCH | HYPOCHONDROPLASIA | Hypochondrodysplasia | Hypochondroplasia | Hypochondroplasia (disorder) | Hypochondroplasia syndrome | hypochondroplasia | short; stature, hypochondroplastic | stature; short, hypochondroplastic NCI2016_02D:An autosomal dominant disorder that is often caused by a defect in fibroblast growth factor receptor 3, and characterized by short stature, micromelia, and a comparatively large head. The features are milder than those seen in achondroplasia. ICD10CM_2017:Q77.4|MSH2017_2016_08_12:C562937|OMIM2016_04_17:134934|OMIM2016_04_17:146000|SNOMEDCT_US_2016_09_01:205468002|SNOMEDCT_US_2016_09_01:205469005|SNOMEDCT_US_2016_09_01:45818004 C4024826 Pigmentation anomalies of sun-exposed skin Abnormal pigmentation in sun-exposed skin | Pigmentation anomalies of sun-exposed skin HPO2016_07_04:HP:0007623 C4225326 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 | FTDALS3 OMIM2016_04_17:601530|OMIM2016_04_17:616437 C3648212 Late effects of nontraumatic intracranial hemorrhage vision disturbances late effects of nontraumatic intracranial hemorrhage vision disturbances | late effects of nontraumatic intracranial hemorrhage vision disturbances (diagnosis) C1335343 Accessory sinus schneiderian papilloma Accessory Sinus Schneiderian Papilloma | Paranasal Sinus Schneiderian Papilloma | Schneiderian Papilloma of Accessory Sinus | Schneiderian Papilloma of Paranasal Sinus | Schneiderian Papilloma of the Accessory Sinus | Schneiderian Papilloma of the Paranasal Sinus NCI2016_02D:A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma. C1096155 Macrophage activation syndrome MAS | Macrophage Activation Syndrome | Macrophage Activation Syndrome [Disease/Finding] | Macrophage activation syndrome | Macrophage activation syndrome (disorder) | Reactive Hemophagocytic Lymphohistiocytosis | Syndrome, Macrophage Activation | macrophage activation syndrome | macrophage activation syndrome (diagnosis) MSH2017_2016_08_12:A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS. | NCI2016_02D:A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms.(NICHD) | NCI2016_NICHD_1602D:A potentially fatal complication of rheumatic disease characterized by fever, pancytopenia, hemophagocytosis, hyperferritinemia, liver insufficiency, coagulopathy and neurologic symptoms. MSH2017_2016_08_12:D055501|SNOMEDCT_US_2016_09_01:430478003 C1511188 Bladder colonic type adenocarcinoma Bladder Colonic Type Adenocarcinoma | Bladder Enteric Type Adenocarcinoma C0015967 Fever Alteration in body temperature: hyperthermia, fever | BODY TEMPERATURE INCREASED | Body temperature above normal | Body temperature above normal (finding) | Body temperature above reference range | Body temperature above reference range (finding) | Body temperature increased | Body temperature, increased | Elevated Core Body Temperature | FEVER | Febrile | Feels feverish | Fever | Fever (finding) | Fever NOS | Fever [Disease/Finding] | Fever, unspecified | Feverish | Fevers | HYPERTHERMIA | Has a temperature | High body temperature | High temperature | Hyperthermia | Hyperthermia (finding) | Hyperthermia - disorder | Hyperthermia [Ambiguous] | Hyperthermias | Hyperthermic | Increase in body temperature | Increased body temperature | Increased body temperature (finding) | Increased body temperature (finding) [Ambiguous] | PYREXIA | Pyrexia | Pyrexia (finding) | Pyrexia NOS | Pyrexia [D] | Pyrexia [D] (finding) | Pyrexia [D] (situation) | Pyrexial | Pyrexias | TEMPERATURE ELEVATION | TEMPERATURE INCREASE | Temperature elevated | Temperature elevation | Temperature raised | Temperature;high | [D]Fever NOS | [D]Fever NOS (context-dependent category) | [D]Fever NOS (situation) | [D]Pyrexia | [D]Pyrexia (context-dependent category) | [D]Pyrexia (situation) | body temperature; increased | elevated temperature | febrile | febris | fever | fever (physical finding) | fevered | feverish | fevers | high body temperature | high temperature | high; temperature | hyperthermia | hyperthermic | increase temperature | increased body temperature | increased; body temperature | increases temperature | pyrexia | pyrexia (diagnosis) | pyrexial | raised temperature | rndx hyperthermia | rndx hyperthermia (diagnosis) | temperature elevation | temperature increase | temperature; high AIR93:Fever: a documented body temperature higher than 38 degrees C., or 100.4 degrees F. | CCC2_5:Abnormal high body temperature | CSP2006:abnormal elevation of body temperature, usually as a result of a pathologic process. | HPO2016_07_04:Elevated body temperature due to failed thermoregulation. [HPO:sdoelken] | MEDLINEPLUS_20151021:A fever is a body temperature that is higher than normal. It is not an illness. It is part of your body's defense against infection. Most bacteria and viruses that cause infections do well at the body's normal temperature (98.6 F). A slight fever can make it harder for them to survive. Fever also activates your body's immune system.
Infections cause most fevers. There can be many other causes, including
Treatment depends on the cause of your fever. Your health care provider may recommend using over-the-counter medicines such as acetaminophen or ibuprofen to lower a very high fever. Adults can also take aspirin, but children with fevers should not take aspirin. It is also important to drink enough liquids to prevent dehydration.
| MSH2017_2016_08_12:An abnormal elevation of body temperature, usually as a result of a pathologic process. | NANDA-I_2015-2017:Core body temperature above the normal diurnal range due to failure of thermoregulation. | NCI2016_02D:A condition characterized by an abnormally high body temperature. In a hyperthermic state, the hypothalamic set-point is normal but body temperature increases and overrides the ability to lose heat, resulting from exogenous heat exposure or endogenous heat production. | NCI2016_02D:Elevation of body temperature above normal due to inflammatory or immune responses. | NCI2016_CTCAE_1602D:A disorder characterized by elevation of the body's temperature above the upper limit of normal. | NCI2016_NCI-GLOSS_1602D:Abnormally high body temperature. This may be caused as part of treatment, by an infection, or by exposure to heat. | NCI2016_NCI-GLOSS_1602D:An increase in body temperature above normal (98.6 degrees F), usually caused by disease. | NCI2016_NICHD_1602D:Elevation of body temperature above normal due to the production of more heat than the body is able to dissipate. | NCI2016_NICHD_1602D:Elevation of body temperature above normal due to the production or absorption of more heat than the body is able to dissipate. HPO2016_07_04:HP:0001945|ICD10CM_2017:R50.9|ICD9CM_2014:780.60|MSH2017_2016_08_12:D005334|OMIM2016_04_17:MTHU005439|OMIM2016_04_17:MTHU015481|SNOMEDCT_US_2016_09_01:158161008|SNOMEDCT_US_2016_09_01:179260008|SNOMEDCT_US_2016_09_01:206762007|SNOMEDCT_US_2016_09_01:248425001|SNOMEDCT_US_2016_09_01:248452006|SNOMEDCT_US_2016_09_01:274234009|SNOMEDCT_US_2016_09_01:367493005|SNOMEDCT_US_2016_09_01:386661006|SNOMEDCT_US_2016_09_01:50177009|SNOMEDCT_US_2016_09_01:64882008 C4021259 Limitation of knee mobility Limitation of knee mobility | Limited knee movement HPO2016_07_04:An abnormal limitation of knee joint mobility. [HPO:curators] HPO2016_07_04:HP:0010501 C0848377 Trauma to the abdomen Abdomen injury NOS | Abdominal Injuries | Abdominal Injuries [Disease/Finding] | Abdominal Injury | Abdominal injury | Abdominal injury NOS | Abdominal trauma | Injuries, Abdominal | Injury of abdomen | Injury of abdomen (disorder) | Injury, Abdominal | Trauma;abdomen | abdomen injuries | abdomen injury | abdomen injury (diagnosis) | abdomen trauma | abdomen; injury | abdomen; wound | abdominal injuries | abdominal injury | abdominal trauma | abdominal trauma (diagnosis) | injury abdomen | injury; abdomen | trauma abdomen | trauma to the abdomen | wound; abdomen MSH2017_2016_08_12:General or unspecified injuries involving organs in the abdominal cavity. MSH2017_2016_08_12:D000007|SNOMEDCT_US_2016_09_01:128069005|SNOMEDCT_US_2016_09_01:269342008 C1859537 Bare lymphocyte syndrome, type ii, complementation group d BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP D | Bare Lymphocyte Syndrome, Type II, Complementation Group D MSH2017_2016_08_12:C565910|OMIM2016_04_17:209920|OMIM2016_04_17:601861 C0520716 Pallidopontonigral degeneration PALLIDOPONTONIGRAL DEGENERATION | PPND | Pallidopontonigral Degeneration | Pallidopontonigral degeneration | Pallidopontonigral degeneration (disorder) MSH2017_2016_08_12:C563003|OMIM2016_04_17:600274|SNOMEDCT_US_2016_09_01:42369001 C0036329 Schistosomiasis japonica Asian; schistosomiasis | Asiatic schistosomiasis | Asiatic schistosomiasis NOS | Asiatic; schistosomiasis | SCHISTOSOMIASIS JAPONICA | SCHISTOSOMIASIS, EASTERN | Schistosoma Japonicum Infection | Schistosoma japonicum | Schistosoma japonicum infection | Schistosoma japonicum infection (disorder) | Schistosoma japonicum infection (disorder) [Ambiguous] | Schistosoma; infestation, japonicum | Schistosoma; japonicum | Schistosomiasis due to Schistosoma japonicum | Schistosomiasis due to schistosoma japonicum | Schistosomiasis japonica | Schistosomiasis japonica [Disease/Finding] | Schistosomiasis japonicum | YANGTZE DISEASE | YANGTZE RIVER DISEASE | eastern schistosomiasis | eastern; schistosomiasis | infestation; Schistosoma, japonicum | oriental; schistosomiasis | schistosomiasis due to Schistosoma japonicum | schistosomiasis due to Schistosoma japonicum (diagnosis) | schistosomiasis; Asiatic | schistosomiasis; Schistosoma japonicum | schistosomiasis; eastern | schistosomiasis; oriental MSH2017_2016_08_12:Schistosomiasis caused by Schistosoma japonicum. It is endemic in the Far East and affects the bowel, liver, and spleen. ICD10CM_2017:B65.2|ICD9CM_2014:120.2|MSH2017_2016_08_12:D012554|SNOMEDCT_US_2016_09_01:187114003|SNOMEDCT_US_2016_09_01:268058007|SNOMEDCT_US_2016_09_01:6421008 C0278679 Cancer cell recurrent renal Carcinoma kidney recurrent | Hypernephroma recurrent | Kidney carcinoma recurrent | Recurrent Renal Cell Carcinoma | Relapsed Renal Cell Carcinoma | Renal Cell Carcinoma, Recurrent | Renal carcinoma recurrent | Renal cell carcinoma recurrent | cancer cell recurrent renal | hypernephroma, recurrent | recurrent hypernephroma | recurrent renal cell cancer | recurrent renal cell carcinoma | renal cell carcinoma, recurrent NCI2016_02D:A reemergence of renal cell carcinoma after a period of remission. C0278076 Behavioral tic Behavioral tic | Behavioural tic | Chorea, Habit | Choreas, Habit | Habit Chorea | Habit Choreas | Habit Spasm | Habit Spasms | Habit disorder | Habit spasm | Habit tic | Habit tic (disorder) | Habituation Spasm | Habituation Spasms | Spasm, Habit | Spasm, Habituation | Spasm/Tic | Spasms, Habit | Spasms, Habituation | Tic | Tic, behavioral | Tics | Tics [Disease/Finding] | behavioral tic | chorea; habit | disorder; habit | habit disorder | habit spasm | habit tic disorder | habit tic disorder (diagnosis) | habit; chorea | habit; spasm | habit; tic | habitual; spasm | habitual; tic | spasm; habit | spasm; habitual | spasm; tic | tic | tic; habit | tic; habitual | tic; spasm | tics | tics (physical finding) | tics were seen MSH2017_2016_08_12:Habitual, repeated, rapid contraction of certain muscles, resulting in stereotyped individualized actions that can be voluntarily suppressed for only brief periods. They often involve the face, vocal cords, neck, and less often the extremities. Examples include repetitive throat clearing, vocalizations, sniffing, pursing the lips, and excessive blinking. Tics tend to be aggravated by emotional stress. When frequent they may interfere with speech and INTERPERSONAL RELATIONS. Conditions which feature frequent and prominent tics as a primary manifestation of disease are referred to as TIC DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, pp109-10) MSH2017_2016_08_12:D020323|SNOMEDCT_US_2016_09_01:112086008|SNOMEDCT_US_2016_09_01:35042001|SNOMEDCT_US_2016_09_01:386783003|SNOMEDCT_US_2016_09_01:402732001|SNOMEDCT_US_2016_09_01:568005 C1853486 Widow's peak Hairline peak | Hairline point | V-shaped frontal hairline | WIDOW'S PEAK | Widow's peak HPO2016_07_04:Frontal hairline with bilateral arcs to a low point in the midline of the forehead. [pmid:19125436] HPO2016_07_04:HP:0000349|OMIM2016_04_17:194000|OMIM2016_04_17:MTHU004091 C0004352 Autistic disorder -- Autism | AUTISM | AUTISM INFANTILE | AUTISTIC | AUTISTIC DISORDER | Autism | Autism (209850) | Autism disorder | Autism in children | Autism infantile | Autism, Early Infantile | Autism, Infantile | Autism, childhood onset | Autism;child | Autistic Disorder | Autistic Disorder [Disease/Finding] | Autistic disorder | Autistic disorder (disorder) | Autistic disorder of childhood onset | Autistic disorder of childhood onset (disorder) | Autistic disorder, NOS | Childhood autism | Childhood autism (disorder) | Childhood autism [Ambiguous] | Disorder, Autistic | Disorders, Autistic | Early Infantile Autism | Early infantile autism | Infantile Autism | Infantile Autism, Early | Infantile autism | Infantile autism (disorder) | Infantile autism NOS | Infantile autism NOS (disorder) | Kanner | Kanner Syndrome | Kanner's Syndrome | Kanner's syndrome | Kanners Syndrome | autism | autism child | autism childhood | autism infantile | autistic | autistic disorder | autistic disorder (diagnosis) | autistic disorder (infantile autism, full syndrome present) | autistic disorder infantile, full syndrome present | autistic disorder of childhood onset | autistic disorder of childhood onset (diagnosis) | autistic disorders | autistic; disorder | autistics | child autism | childhood autism | childhood autistic disorder | disorder; autistic | early infantile autism | infantile autism | infantile autism (diagnosis) CSP2006:disorder beginning in childhood marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest; manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. | CSP2006:type of autism characterized by very early detection (< 30 months), social coldness, grossly impaired communication, and bizarre motor responses. | HPO2016_07_04:Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). [DDD:hvfirth] | MSH2017_2016_08_12:A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V) | NCI2016_02D:A disorder characterized by marked impairments in social interaction and communication accompanied by a pattern of repetitive, stereotyped behaviors and activities. Developmental delays in social interaction and language surface prior to age 3 years. | NCI2016_NICHD_1602D:A neurodevelopmental disorder presenting in early childhood that is characterized by impaired communication, difficulty in social interactions, stereotypic behaviors, and a limited range of interests and activities. HPO2016_07_04:HP:0000717|ICD10CM_2017:F84.0|ICD9CM_2014:299.0|MSH2017_2016_08_12:D001321|OMIM2016_04_17:209850|OMIM2016_04_17:MTHU004240|OMIM2016_04_17:MTHU028108|SNOMEDCT_US_2016_09_01:154878007|SNOMEDCT_US_2016_09_01:191688000|SNOMEDCT_US_2016_09_01:191691000|SNOMEDCT_US_2016_09_01:192581001|SNOMEDCT_US_2016_09_01:271450003|SNOMEDCT_US_2016_09_01:34883005|SNOMEDCT_US_2016_09_01:38763009|SNOMEDCT_US_2016_09_01:408856003|SNOMEDCT_US_2016_09_01:408857007|SNOMEDCT_US_2016_09_01:43614003 C2675128 Microvascular complications of diabetes, susceptibility to, 6 (finding) MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6 | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6 (finding) | MVCD6 | NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO OMIM2016_04_17:147460|OMIM2016_04_17:612634 C0422863 Seizure with structured hallucinations Seizure with structured hallucinations | Seizure with structured hallucinations (disorder) | Seizure with structured hallucinations (finding) SNOMEDCT_US_2016_09_01:246539005 C0178416 Hypoplastic anemia ANAEMIA HYPOPLASTIC | ANEMIA HYPOPLASTIC | ANEMIA, HYPOPLASTIC | Anaemia hypoplastic | Anemia hypoplastic | Anemia, Hypoplastic | Anemias, Hypoplastic | Bone marrow eryth. hypoplasia | Bone marrow eryth. hypoplasia (finding) | Erythroid hypoplasia in the bone marrow | Erythroid hypoplasia of bone marrow | Erythroid hypoplasia of bone marrow (finding) | HYPOPLASTIC ANEMIA | Hypoplastic Anemia | Hypoplastic Anemias | Hypoplastic anaemia | Hypoplastic anemia | Hypoplastic anemia (disorder) | Hypoplastic anemia NOS | Hypoplastic anemia, NOS | anemia hypoplastic | anemia; hypoplasia | anemia; hypoplastic | hypoplasia; anemia | hypoplastic anaemia | hypoplastic anemia | hypoplastic anemia (diagnosis) | hypoplastic; anemia HPO2016_07_04:Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia. [HPO:probinson] HPO2016_07_04:HP:0001908|HPO2016_07_04:HP:0012133|ICD10CM_2017:D61.9|MSH2017_2016_08_12:D000741|OMIM2016_04_17:MTHU014878|OMIM2016_04_17:MTHU024107|SNOMEDCT_US_2016_09_01:145151009|SNOMEDCT_US_2016_09_01:167923006|SNOMEDCT_US_2016_09_01:41614006 C1836121 Al-gazali syndrome AL-GAZALI SYNDROME | Al-Gazali Syndrome MSH2017_2016_08_12:C536817|OMIM2016_04_17:609465 C0546297 Hallux varus Hallux Varus | Hallux Varus [Disease/Finding] | Hallux varus | Medially deviated halluces | Varus deformity of great toe | Varus deformity of great toe (finding) | feet hallux varus | hallux varus | hallux varus (physical finding) | hallux; varus | varus; hallux HPO2016_07_04:Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially. [HPO:curators] | MSH2017_2016_08_12:Displacement of the great toe (HALLUX) towards the midline or away from the other TOES. It can be congenital or acquired. HPO2016_07_04:HP:0008080|MSH2017_2016_08_12:D050488|OMIM2016_04_17:MTHU036827|OMIM2016_04_17:MTHU037498|SNOMEDCT_US_2016_09_01:274147008 C1970149 Paroxysmal nonkinesigenic dyskinesia 2 (disorder) DYSTONIA 20 | DYT20 | Dystonia 20 | PAROXYSMAL NONKINESIGENIC DYSKINESIA 2 | PAROXYSMAL NONKINESIGENIC DYSKINESIA 2 (disorder) | PNKD2 | Paroxysmal Nonkinesigenic Dyskinesia 2 MSH2017_2016_08_12:C567001|OMIM2016_04_17:611147 C1336981 Seborrheic keratosis of vulva Seborrheic Keratosis of Vulva | Seborrheic Keratosis of the Vulva | Vulvar Seborrheic Keratosis NCI2016_02D:A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation. C0005612 Birth weight BW - Birth weight | Birth Weight | Birth Weight [Disease/Finding] | Birth Weights | Birth weight | Birth weight (observable entity) | Birth weight finding | Birth weight finding (finding) | Birth weight of baby | Birth weight of baby NOS | Birth weight of baby NOS (finding) | Birth weight of baby NOS (observable entity) | Birth weight, NOS | Birthweight | Birthweight of baby | Birthweight of baby NOS | Finding of birth weight | Finding of birth weight (finding) | INFANT BIRTHWEIGHT | Observation of birth weight | Weight - baby | Weight, Birth | Weights, Birth | babies birth weight | babies birthweight | birth weight | birth weight (physical finding) | birth weights | birthweight | infant birthweight MEDLINEPLUS_20151021:Birth weight is the first weight of your baby, taken just after he or she is born. A low birth weight is less than 5.5 pounds. A high birth weight is more than 8.8 pounds.
A low birth weight baby can be born too small, too early (premature), or both. This can happen for many different reasons. They include health problems in the mother, genetic factors, problems with the placenta and substance abuse by the mother.
Some low birth weight babies may be more at risk for certain health problems. Some may become sick in the first days of life or develop infections. Others may suffer from longer-term problems such as delayed motor and social development or learning disabilities.
High birth weight babies are often big because the parents are big, or the mother has diabetes during pregnancy. These babies may be at a higher risk of birth injuries and problems with blood sugar.
Centers for Disease Control and Prevention
| MSH2017_2016_08_12:The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms. | NCI2016_02D:The first weight of a newborn obtained after birth. | NCI2016_NICHD_1602D:A measured weight of a newborn obtained immediately or shortly after birth. MSH2017_2016_08_12:D001724|SNOMEDCT_US_2016_09_01:147092001|SNOMEDCT_US_2016_09_01:147108009|SNOMEDCT_US_2016_09_01:169875005|SNOMEDCT_US_2016_09_01:224995001|SNOMEDCT_US_2016_09_01:364589006|SNOMEDCT_US_2016_09_01:47340003 C0268368 Progressive recessive dystrophic epidermolysis bullosa EBR 3 | EBR3 | EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA | EPIDERMOLYSIS BULLOSA PROGRESSIVA, RECESSIVE | EPIDERMOLYSIS BULLOSA WITH CONGENITAL DEAFNESS | Epidermolysis Bullosa Dystrophica Neurotrophica | Epidermolysis Bullosa Progressiva, Recessive | Epidermolysis Bullosa With Congenital Deafness | Epidermolysis bullosa dystrophica neurotrophica | Epidermolysis bullosa progressiva with congenital deafness | Goldscheider | Goldscheider disease | Goldscheider's disease | Goldscheider's disease (disorder) | Progressive recessive dystrophic epidermolysis bullosa | Progressive recessive dystrophic epidermolysis bullosa (disorder) MSH2017_2016_08_12:C562637|OMIM2016_04_17:226500|SNOMEDCT_US_2016_09_01:205580008|SNOMEDCT_US_2016_09_01:254176007|SNOMEDCT_US_2016_09_01:434002 C1265997 Large cell carcinoma with rhabdoid phenotype Large Cell Carcinoma with Rhabdoid Phenotype | Large Cell Lung Carcinoma with Rhabdoid Phenotype | Large cell carcinoma with rhabdoid phenotype | Large cell carcinoma with rhabdoid phenotype (morphologic abnormality) | large cell carcinoma of lung with rhabdoid phenotype | large cell carcinoma of lung with rhabdoid phenotype (diagnosis) | large cell carcinoma with rhabdoid phenotype | large cell carcinoma with rhabdoid phenotype (diagnosis) | malignant neoplasm carcinoma large cell with rhabdoid phenotype NCI2016_02D:A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells. SNOMEDCT_US_2016_09_01:128629005 C0028425 Crusted scabies Crusted scabies | Crusted scabies (disorder) | Norwegian Scabies | Norwegian itch; itch | Norwegian scabies | Norwegian scabies (diagnosis) | crusted scabies | itch; Norwegian itch | norwegian scabies | scabies norwegian NCI2016_02D:A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia. SNOMEDCT_US_2016_09_01:128870005|SNOMEDCT_US_2016_09_01:187215008|SNOMEDCT_US_2016_09_01:67172004 C0810265 Other and unspecified mental conditions Other and unspecified mental conditions C0264633 Voice disorder due to transsexualism Voice disorder due to transsexualism | Voice disorder due to transsexualism (disorder) | voice disorder due to transsexualism (diagnosis) SNOMEDCT_US_2016_09_01:85762002 C1857779 Senior-loken syndrome 6 SENIOR-LOKEN SYNDROME 6 | SLSN6 | Senior-Loken Syndrome 6 MSH2017_2016_08_12:C565708|OMIM2016_04_17:610142|OMIM2016_04_17:610189 C0812435 Chromosome 11p deletion syndrome 11p Deletion Syndrome | 11p deletion syndrome | 11p- syndrome | Brusa-Toricelli syndrome | Chromosome 11p Deletion Syndrome | Chromosome 11p deletion syndrome | Miller syndrome | Wilms tumor-aniridia syndrome | Wilms tumor-aniridia-genitourinary abnormalities-mental retardation triad | Wilms tumor-aniridia-gonadoblastoma-mental retardation (WAGR) syndrome, association | Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome, association | aniridia type II | aniridia-Wilms tumor association, syndrome (aniridia-WT association, AWTA) | aniridia-Wilms tumor-gonadoblastoma syndrome | aniridia-ambiguous genitalia-mental retardation (AGR) syndrome, triad | aniridia-ambiguous genitalia-mental retardation syndrome, triad | aniridia-genitourinary-abnormalities-mental retardation triad | chromosome 11p deletion syndrome | chromosome 11p monosomy | del(11p) syndrome | del11/aniridia complex | deletion 11p syndrome | miller syndrome | miller syndromes | millers syndrome | monosomy 11p | oculocerebrorenal (OCR) syndrome | oculocerebrorenal syndrome | partial monosomy 11p JABL99:Deletion of the short arm of chromosome 11 with a variable phenotype: Congenital absence of the iris, genitourinary abnormalities and mental retardation known as aniridia-ambiguous genitalia-mental retardation (AGR) triad; Wilms tumor-aniridia-ambiguous genitalia-mental retardation (WAGR) syndrome; Wilms tumor associated with congenital absence of the iris, genitourinary abnormalities, hemihypertrophy, mental retardation, and other anomalies termed AWTA; MSH2017_2016_08_12:C541598 C1736174 Chronic heartburn Chronic heartburn C0007135 Adenocarcinoma, scirrhous Adenocarcinoma With Productive Fibrosis | Adenocarcinoma with Productive Fibrosis | Adenocarcinoma, Scirrhous | Adenocarcinoma, Scirrhous [Disease/Finding] | Adenocarcinomas, Scirrhous | Carcinoma with productive fibrosis | Carcinoma, Scirrhous | Carcinomas, Scirrhous | FIBROADENOCARCINOMA, MALIGNANT | Fibrocarcinoma | Scirrhous Adenocarcinoma | Scirrhous Adenocarcinomas | Scirrhous Carcinoma | Scirrhous Carcinomas | Scirrhous adenocarcinoma | Scirrhous adenocarcinoma (morphologic abnormality) | Scirrhous carcinoma | adenocarcinoma scirrhous | malignant neoplasm adenocarcinoma scirrhous | scirrhous adenocarcinoma | scirrhous adenocarcinoma (diagnosis) | scirrhous carcinoma MSH2017_2016_08_12:An adenocarcinoma with a hard (Greek skirrhos, hard) structure owing to the formation of dense connective tissue in the stroma. (From Dorland, 27th ed) | NCI2016_02D:An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction. | NCI2016_CDISC_1602D:A malignant neoplasm originating from glandular cells with a fibrous or fibroblastic component. MSH2017_2016_08_12:D002293|SNOMEDCT_US_2016_09_01:4584002 C0039584 Testicular diseases DISORDER TESTICLE | Disease of testis | Disease of testis (disorder) | Disease of testis, NOS | Disease, Testicular | Diseases of Testis | Diseases, Testicular | Disorder of testis | Disorder of testis (disorder) | Disorder of testis, NOS | Disorder testicle | TESTICULAR DISORDER | TESTIS DISORDER | Testes | Testes Disorders | Testicular Disease | Testicular Diseases | Testicular Diseases [Disease/Finding] | Testicular Disorder | Testicular Disorders | Testicular disease | Testicular disorder | Testicular disorder NOS | Testicular disorder, NOS | Testis disorder | Testis--Diseases | disease (or disorder); testis | disease testicular | disorder of testis | disorder of testis (diagnosis) | disorder testes | disorders testes | disorders testicle | disorders testicles | disorders testicular | testes disorders | testicular disease | testicular diseases | testicular disorder | testis (excluding endocrine function) | testis disease | testis disorder | testis; disorder CSP2006:deviation from or interruption of the normal structure or function of the testis. | MEDLINEPLUS_20151021:Testicles, or testes, make male hormones and sperm. They are two egg-shaped organs inside the scrotum, the loose sac of skin behind the penis. It's easy to injure your testicles because they are not protected by bones or muscles. Men and boys should wear athletic supporters when they play sports.
You should examine your testicles monthly and seek medical attention for lumps, redness, pain or other changes. Testicles can get inflamed or infected. They can also develop cancer. Testicular cancer is rare and highly treatable. It usually happens between the ages of 15 and 40.
| MSH2017_2016_08_12:Pathological processes of the TESTIS. | NCI2016_02D:A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia. | NCI2016_CTCAE_1602D:A disorder characterized by involvement of the testis. MSH2017_2016_08_12:D013733|SNOMEDCT_US_2016_09_01:236763001|SNOMEDCT_US_2016_09_01:297228003|SNOMEDCT_US_2016_09_01:64910008 C0339652 Vertical gaze palsy Upgaze palsy | Vertical gaze palsy | Vertical gaze palsy (disorder) HPO2016_07_04:HP:0000511|OMIM2016_04_17:MTHU045231|SNOMEDCT_US_2016_09_01:246773002 C2931919 X-linked infantile spasm syndrome EIEE | Early Infantile Epileptic Encephalopathy | X-Linked West Syndrome | X-linked infantile spasm syndrome | X-linked infantile spasms NCI2016_02D:A neurological disorder characterized by recurring seizures presenting within the first three months of life and progressive cerebral dysfunction. MSH2017_2016_08_12:C538670 C0796113 Nephroblastomatosis, fetal ascites, macrosomia and wilms tumor NEPHROBLASTOMATOSIS, FETAL ASCITES, MACROSOMIA, AND WILMS TUMOR | Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor | Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor | PERLMAN SYNDROME | PRLMNS | Perlman Syndrome | Perlman nephroblastomatosis syndrome | Perlman syndrome | RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM | Renal Hamartomas, Nephroblastomatosis and Fetal Gigantism | Renal hamartomas, nephroblastomatosis, and fetal gigantism | fetal gigantism-renal harmatoma-nephroblastomatosis syndrome JABL99:A syndrome of renal dysplasia with Wilms tumor, fetal gigantism, fetal ascites, macrosomia, hyperplasia of the endocrine pancreas, typical facial appearance, and mental retardation in those who survive past early infancy. The phenotype varies and some clinical features overlap those of the Beckwith-Wiedemann syndrome | NCI2016_02D:A rare, autosomal recessive syndrome characterized by the presence of polyhydramnios, neonatal macrosomia, craniofacial abnormalities, nephroblastomatosis, and predisposition to Wilms tumor. The prognosis is poor. MSH2017_2016_08_12:C536399|OMIM2016_04_17:267000|OMIM2016_04_17:614184 C0748201 Pyelonephritis subclinical PYELONEPHRITIS SUBCLINICAL C0152018 Esophageal carcinoma CARCINOMA OF ESOPHAGUS | CARCINOMA OF OESOPHAGUS | Cancer of Esophagus | Cancer of oesophagus | Cancer of the Esophagus | Carcinoma of Esophagus | Carcinoma of esophagus | Carcinoma of esophagus (disorder) | Carcinoma of esophagus NOS | Carcinoma of oesophagus | Carcinoma of oesophagus (disorder) | Carcinoma of oesophagus NOS | Carcinoma of the Esophagus | Carcinoma;oesophagus | ESOPHAGEAL CANCER | ESOPHAGEAL CANCER, CARCINOMA | ESOPHAGEAL CARCINOMA | ESOPHAGUS, CARCINOMA | Esophageal Cancer | Esophageal Carcinoma | Esophageal cancer, NOS | Esophageal carcinoma | Esophageal carcinoma NOS | Esophagus Carcinoma | OESOPHAGEAL CARCINOMA | Oesophageal carcinoma | Oesophageal carcinoma NOS | carcinoma esophageal | carcinoma esophageal cancer | carcinoma esophagus | carcinoma oesophagus | carcinoma of esophagus | carcinoma of esophagus (diagnosis) | carcinoma of oesophagus | carcinoma of the esophagus | carcinoma of the oesophagus | esophageal cancer | esophageal carcinoma | esophagus carcinoma | oesophageal carcinoma HPO2016_07_04:The presence of a carcinoma of the esophagus. [DDD:hfirth] | NCI2016_02D:A malignant epithelial tumor arising from the esophageal mucosa. Two major histologic types of esophageal carcinoma have been described: squamous cell carcinoma and adenocarcinoma. This type of cancer is associated with excessive ethanol and cigarette usage. | NCI2016_NCI-GLOSS_1602D:Cancer that forms in tissues lining the esophagus (the muscular tube through which food passes from the throat to the stomach). Two types of esophageal cancer are squamous cell carcinoma (cancer that begins in flat cells lining the esophagus) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). HPO2016_07_04:HP:0011459|OMIM2016_04_17:133239|OMIM2016_04_17:MTHU017591|SNOMEDCT_US_2016_09_01:154441003|SNOMEDCT_US_2016_09_01:255079005|SNOMEDCT_US_2016_09_01:372138000|SNOMEDCT_US_2016_09_01:93785002 C0334277 Adenocarcinoma, metastatic ADENOCARCINOMA METASTATIC | Adenocarc., metastatic NOS | Adenocarcinoma, metastatic | Adenocarcinoma, metastatic (morphologic abnormality) | Adenocarcinoma, metastatic NOS | Adenocarcinoma, metastatic, NOS | Metastatic Adenocarcinoma | Metastatic adenocarcinoma | [M]Adenocarc., metastatic NOS | [M]Adenocarcinoma, metastatic, NOS | [M]Adenocarcinoma, metastatic, NOS (morphologic abnormality) | adenocarcinoma metastatic | metastatic adenocarcinoma NCI2016_02D:An adenocarcinoma which has spread from its original site of growth to another anatomic site. SNOMEDCT_US_2016_09_01:189584005|SNOMEDCT_US_2016_09_01:4590003 C1854154 Charcot-marie-tooth disease, type 2b1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, 2B1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 | CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2B1 | CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B1 | CMT2B1 | Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1 | Charcot-Marie-Tooth Neuropathy, Type 2b1 | Charcot-Marie-Tooth disease, Type 2B1 | Charcot-Marie-Tooth disease, axonal, Type 2B1 | Charcot-Marie-Tooth disease, neuronal, Type 2B1 | charcot-marie-tooth disease type 2b1 | charcot-marie-tooth disease type 2b1 (diagnosis) MSH2017_2016_08_12:C537990|OMIM2016_04_17:150330|OMIM2016_04_17:605588 C0024588 Malignant essential hypertension Accelerated essential hypertension | Accelerated essential hypertension (disorder) | Essential hypertension, malignant | Malignant Essential Hypertension | Malignant essential hypertension | Malignant essential hypertension (disorder) | accelerated essential hypertension | accelerated essential hypertension (diagnosis) | malignant essential hypertension | malignant essential hypertension (diagnosis) ICD9CM_2014:401.0|SNOMEDCT_US_2016_09_01:1218009|SNOMEDCT_US_2016_09_01:78975002 C1853965 Dermatitis, atopic, 2 ATOD2 | DERMATITIS, ATOPIC, 2 | Dermatitis, Atopic, 2 MSH2017_2016_08_12:C565293|OMIM2016_04_17:605803 C4025737 Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) HPO2016_07_04:HP:0001886 C0524812 Intracranial hypotension Hypotension, Intracranial | Intracranial Hypotension | Intracranial Hypotension [Disease/Finding] | Intracranial hypotension | Intracranial hypotension (disorder) | hypotension; intracranial | intracranial hypotension | intracranial; hypotension MSH2017_2016_08_12:Reduction of CEREBROSPINAL FLUID pressure characterized clinically by ORTHOSTATIC HEADACHE and occasionally by an ABDUCENS NERVE PALSY; HEARING LOSS; NAUSEA; neck stiffness, and other symptoms. This condition may be spontaneous or secondary to CEREBROSPINAL FLUID LEAK; SPINAL PUNCTURE; NEUROSURGICAL PROCEDURES; DEHYDRATION; UREMIA; trauma (see also CRANIOCEREBRAL TRAUMA); and other processes. Chronic hypotension may be associated with subdural hematomas (see HEMATOMA, SUBDURAL) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8) MSH2017_2016_08_12:D019585|SNOMEDCT_US_2016_09_01:433691000124104 C3151441 Dyskeratosis congenita, autosomal recessive 2 DKCB2 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 OMIM2016_04_17:606470|OMIM2016_04_17:613987 C0001422 Adenofibroma ADENOFIBROMA, BENIGN | Adenofibroma | Adenofibroma (disorder) | Adenofibroma NOS | Adenofibroma [Disease/Finding] | Adenofibroma, NOS | Adenofibroma, no ICD-O subtype | Adenofibroma, no ICD-O subtype (morphologic abnormality) | Adenofibroma, no International Classification of Diseases for Oncology subtype | Adenofibroma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) | Adenofibromas | Benign Mixed Muellerian Tumor | [M]Adenofibroma NOS | adenofibroma | adenofibromas MSH2017_2016_08_12:A benign neoplasm composed of glandular and fibrous tissues, with a relatively large proportion of glands. (Stedman, 25th ed) | NCI2016_02D:A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported. | NCI2016_CDISC_1602D:Benign mixed neoplasm comprised of epithelial/glandular and mesenchymal structures. MSH2017_2016_08_12:D000232|SNOMEDCT_US_2016_09_01:189823009|SNOMEDCT_US_2016_09_01:2962009 C0343838 Cicatricial skin lesions of carate Cicatrical cutaneous pinta | Cicatricial skin lesions of carate | Cicatricial skin lesions of pinta | Cicatricial skin lesions of pinta (disorder) ICD10CM_2017:A67.2|SNOMEDCT_US_2016_09_01:31772005 C0156348 Endometriosis in cutaneous scar Endometriosis in cutaneous scar | Endometriosis in scar of skin | Endometriosis in scar of skin (disorder) | Scar endometriosis | endometriosis in scar | endometriosis in scar (diagnosis) ICD10CM_2017:N80.6|ICD9CM_2014:617.6|SNOMEDCT_US_2016_09_01:53913001 C1334581 Malignant extragonadal germ cell tumor Malignant Extragonadal Germ Cell Tumor | Malignant Neoplasm of Extragonadal Germ Cell | Malignant Neoplasm of the Extragonadal Germ Cell | Malignant Tumor of Extragonadal Germ Cell | Malignant Tumor of the Extragonadal Germ Cell NCI2016_02D:A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. C0009440 Common bile duct diseases Common Bile Duct Diseases | Common Bile Duct Diseases [Disease/Finding] MSH2017_2016_08_12:Diseases of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI. MSH2017_2016_08_12:D003137 C0162836 Hidradenitis suppurativa Acne Inversa | Acne Inversas | Acne inversa | Apocrine acne | HIDRADENITIS SUPPURATIVA | HIDRADENITIS, SUPPURATIVA | Hidradenitides, Suppurative | Hidradenitis Suppurativa | Hidradenitis Suppurativa [Disease/Finding] | Hidradenitis axillaris | Hidradenitis suppurativa | Hidradenitis suppurativa (disorder) | Hidradenitis, Suppurative | Inversa, Acne | Inversas, Acne | Suppurative Hidradenitides | Suppurative Hidradenitis | Suppurative hidradenitis | Verneuil's disease | apocrine acne | axillaries hidradenitis | axillary hidradenitis | hidradenitis suppurativa | hidradenitis suppurativa (diagnosis) | hidradenitis suppurative | suppurativa hidradenitis | suppurative hidradenitis | verneuil's disease MEDLINEPLUS_20151021:Hidradenitis suppurativa (HS) is a chronic skin disease. It can occur in one or multiple areas of your body. HS usually develops in your armpits, groin, and anal area. It causes long-term skin inflammation and can be painful.
Symptoms include
No one knows what causes HS. It is more common in women, African Americans, and people who have had acne. It usually starts after the teenage years. Treatments include antibiotics, anti-inflammatory medicines, and sometimes surgery. Losing weight or wearing looser clothing may help some patients avoid skin irritation.
| MSH2017_2016_08_12:A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident. HPO2016_07_04:HP:0040154|ICD10CM_2017:L73.2|MSH2017_2016_08_12:D017497|SNOMEDCT_US_2016_09_01:156417004|SNOMEDCT_US_2016_09_01:201204008|SNOMEDCT_US_2016_09_01:267866004|SNOMEDCT_US_2016_09_01:59393003 C1843228 Hypotrophy of the small hand muscles Degeneration of small hand muscles | Hypotrophy of the small hand muscles HPO2016_07_04:HP:0006006|OMIM2016_04_17:MTHU002879 C0694548 Asthma cough variant Cough variant asthma | Cough variant asthma (disorder) | asthma cough variant | cough variant asthma | cough variant asthma (diagnosis) ICD10CM_2017:J45.991|ICD9CM_2014:493.82|SNOMEDCT_US_2016_09_01:409663006 C4225423 Reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset RBMX1A | REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET OMIM2016_04_17:300717 C3494930 Juvenile absence epilepsy, non-intractable Juvenile absence epilepsy, non-intractable | Juvenile absence epilepsy, non-refractory | Juvenile absence epilepsy, non-refractory (disorder) | Juvenile absence seizures, non-refractory SNOMEDCT_US_2016_09_01:431471000124102 C1865794 Rhyns syndrome RETINITIS PIGMENTOSA SYNDROME | RETINITIS PIGMENTOSA, HYPOPITUITARISM, NEPHRONOPHTHISIS, AND MILD SKELETAL DYSPLASIA | RHYNS SYNDROME | RHYNS syndrome | Retinitis pigmentosa syndrome | Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia MSH2017_2016_08_12:C537612|OMIM2016_04_17:602152 C4024706 Spinal cord posterior columns myelin loss Spinal cord posterior columns myelin loss HPO2016_07_04:HP:0008311 C1404521 Limb-girdle myopathy Limb-girdle myopathy | limb-girdle; myopathy | myopathy; limb-girdle HPO2016_07_04:HP:0003797|OMIM2016_04_17:MTHU045546 C4280501 Failure of development of nasal septal cartilage Failure of development of nasal septal cartilage HPO2016_07_04:HP:0005273 C0271750 Adrenal calcification Adrenal calcification | Adrenal calcification (disorder) | Adrenal gland calcification | adrenal calcification | adrenal calcification (diagnosis) | adrenal calcifications | adrenal; calcification | calcification; adrenal HPO2016_07_04:Calcification within the adrenal glands. [HPO:probinson] HPO2016_07_04:HP:0010512|SNOMEDCT_US_2016_09_01:12286000 C0575031 Cervical facet syndrome Cervical facet joint pain | Cervical facet joint pain (finding) | Facet syndrome of cervical spine | cervical facet syndrome | cervical facet syndrome (diagnosis) SNOMEDCT_US_2016_09_01:298253002 C0948089 Acute coronary syndrome ACS - Acute coronary syndrome | Acute Coronary Syndrome | Acute Coronary Syndrome [Disease/Finding] | Acute Coronary Syndromes | Acute coronary syndrome | Acute coronary syndrome (disorder) | Coronary Syndrome, Acute | Coronary Syndromes, Acute | Syndrome, Acute Coronary | Syndromes, Acute Coronary | acute coronary syndrome | acute coronary syndrome (diagnosis) | acute coronary syndromes | syndrome acute coronary MSH2017_2016_08_12:An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION. | NCI2016_02D:Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction. | NCI2016_CTCAE_1602D:A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction. MSH2017_2016_08_12:D054058|SNOMEDCT_US_2016_09_01:393587009|SNOMEDCT_US_2016_09_01:394659003 C0694536 Drug-seeking behavior BEHAVIOR DRUG SEEKING | Behavior, Drug-Seeking | Behaviors, Drug-Seeking | Drug Seeking Behavior | Drug seeking | Drug seeking behavior | Drug seeking behavior (finding) | Drug seeking behaviour | Drug-Seeking Behavior | Drug-Seeking Behaviors | drug seeking behavior | drug seeking behavior (diagnosis) | drug seeking behaviour | drug-seeking behavior MSH2017_2016_08_12:Activities performed to obtain licit or illicit substances. MSH2017_2016_08_12:D058999|SNOMEDCT_US_2016_09_01:441668002 C4225339 Palmoplantar keratoderma, nonepidermolytic, focal 2 FNEPPK2 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 OMIM2016_04_17:616400 C0015938 Fetal macrosomia Fetal Macrosomia | Fetal Macrosomia [Disease/Finding] | Fetal Macrosomias | Fetal giant | Fetal macrosomia | Foetal giant | Foetal macrosomia | Macrosomia, Fetal | Macrosomia, neonatal | Macrosomias, Fetal | fetal macrosomia | macrosomia fetal | macrosomic fetus MSH2017_2016_08_12:A condition of fetal overgrowth leading to a large-for-gestational-age FETUS. It is defined as BIRTH WEIGHT greater than 4,000 grams or above the 90th percentile for population and sex-specific growth curves. It is commonly seen in GESTATIONAL DIABETES; PROLONGED PREGNANCY; and pregnancies complicated by pre-existing diabetes mellitus. | NCI2016_02D:A fetus exceeding 4500 grams.(NICHD) | NCI2016_NICHD_1602D:A fetus whose estimated weight exceeds 4500 grams. MSH2017_2016_08_12:D005320|OMIM2016_04_17:MTHU024934|SNOMEDCT_US_2016_09_01:38206000 C0020615 Hypoglycemia Blood Glucose, Low | Glucose, Low Blood | HYPOGLYCAEMIA | HYPOGLYCEMIA | Hypoglycaemia | Hypoglycaemia (disorder) | Hypoglycaemia NOS | Hypoglycaemia unspecified | Hypoglycaemia unspecified (disorder) | Hypoglycaemia unspecified NOS | Hypoglycaemia, NOS | Hypoglycaemia, unspecified | Hypoglycaemic disorder | Hypoglycaemic syndrome | Hypoglycaemic syndrome, NOS | Hypoglycemia | Hypoglycemia (disorder) | Hypoglycemia (disorder) [Ambiguous] | Hypoglycemia NOS | Hypoglycemia [Disease/Finding] | Hypoglycemia unspecified | Hypoglycemia unspecified (disorder) | Hypoglycemia unspecified NOS | Hypoglycemia unspecified NOS (disorder) | Hypoglycemia, NOS | Hypoglycemia, unspecified | Hypoglycemic disorder | Hypoglycemic disorder (disorder) | Hypoglycemic syndrome | Hypoglycemic syndrome (disorder) | Hypoglycemic syndrome, NOS | Low Blood Glucose | Low Blood Sugar | Low blood sugar | blood sugar; low | blood; sugar, low | hypoglycaemia | hypoglycemia | hypoglycemia (diagnosis) | hypoglycemia nos | low blood sugar level | low; blood sugar | sugar; blood, low CSP2006:syndrome of abnormally low blood glucose level; clinical hypoglycemia has diverse etiologies; severe hypoglycemia eventually lead to glucose deprivation of the central nervous system resulting in hunger, sweating, paresthesia, impaired mental function, seizures, coma, and even death. | HPO2016_07_04:A decreased concentration of glucose in the blood. [HPO:curators] | MEDLINEPLUS_20151021:Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose.
In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include
In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan.
You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
| MSH2017_2016_08_12:A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH. | NCI2016_02D:Abnormally low level of glucose in the blood. | NCI2016_CTCAE_1602D:A disorder characterized by laboratory test results that indicate a low concentration of glucose in the blood. | NCI2016_NCI-GLOSS_1602D:Abnormally low blood sugar. | NCI2016_NICHD_1602D:Abnormally low level of glucose in the blood. HPO2016_07_04:HP:0001943|ICD10CM_2017:E16.2|ICD9CM_2014:251.2|MSH2017_2016_08_12:D007003|OMIM2016_04_17:MTHU000371|SNOMEDCT_US_2016_09_01:154691006|SNOMEDCT_US_2016_09_01:154693009|SNOMEDCT_US_2016_09_01:190433001|SNOMEDCT_US_2016_09_01:190436009|SNOMEDCT_US_2016_09_01:237630007|SNOMEDCT_US_2016_09_01:271327008|SNOMEDCT_US_2016_09_01:302866003|SNOMEDCT_US_2016_09_01:66694000 C1842398 Neutrophil immunodeficiency syndrome NEUTROPHIL IMMUNODEFICIENCY SYNDROME | Neutrophil Immunodeficiency Syndrome MSH2017_2016_08_12:C564275|OMIM2016_04_17:602049|OMIM2016_04_17:608203 C0039144 Syringomyelia Myelosyringoses | Myelosyringosis | SYRINGOMYELIA | Spinal cord cavitation | Syringomyelia | Syringomyelia (disorder) | Syringomyelia [Disease/Finding] | Syringomyelia-anaesthesia syndrome | Syringomyelia-anesthesia syndrome | Syringomyelias | Syringomyelus | syringomyelia | syringomyelia (diagnosis) HPO2016_07_04:Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. [HPO:sdoelken] | MEDLINEPLUS_20151021:Syringomyelia is a rare disorder that causes a cyst to form in your spinal cord. This cyst, called a syrinx, gets bigger and longer over time, destroying part of the spinal cord. Damage to the spinal cord from the syrinx can cause symptoms such as
Symptoms vary according to the size and location of the syrinx. They often begin in early adulthood.
Syringomyelia usually results from a skull abnormality called a Chiari I malformation. A tumor, meningitis or physical trauma can also cause it. Surgery is the main treatment. Some people also need to have the syrinx drained. Medicines can help ease pain. In some cases, there are no symptoms, so you may not need treatment.
| MSH2017_2016_08_12:Longitudinal cavities in the spinal cord, most often in the cervical region, which may extend for multiple spinal levels. The cavities are lined by dense, gliogenous tissue and may be associated with SPINAL CORD NEOPLASMS; spinal cord traumatic injuries; and vascular malformations. Syringomyelia is marked clinically by pain and PARESTHESIA, muscular atrophy of the hands, and analgesia with thermoanesthesia of the hands and arms, but with the tactile sense preserved (sensory dissociation). Lower extremity spasticity and incontinence may also develop. (From Adams et al., Principles of Neurology, 6th ed, p1269) | NCI2016_02D:A rare disorder characterized by the formation of a cyst in the spinal cord. It results in weakness, pain, and stiffness in the shoulders, arms, legs, or back. It may be associated with Chiari malformation. Other causes include spinal cord injury, inflammation, or tumor. | NCI2016_CDISC_1602D:Cavitation of the spinal cord parenchyma. HPO2016_07_04:HP:0003396|MSH2017_2016_08_12:D013595|OMIM2016_04_17:MTHU036587|SNOMEDCT_US_2016_09_01:111496009|SNOMEDCT_US_2016_09_01:155020007|SNOMEDCT_US_2016_09_01:267695005 C0013418 Abnormal labor ABNORMAL LABOR | Abnormal labor | Abnormal labor, NOS | Abnormal labour | Abnormal labour, NOS | Arrest of Dilatation | Delivery problem | Delivery problem (finding) | Difficult labor | Difficult labour | Dysfunctional Labor | Dysfunctional labor | Dysfunctional labour | Dystocia | Dystocia (disorder) | Dystocia (disorder) [Ambiguous] | Dystocia NOS | Dystocia NOS (finding) | Dystocia [Disease/Finding] | Dystocia, NOS | Dystocias | Failure to Progress | LABOR ABNORMAL | LABOR DIFFICULTY | Labor Dystocia | Labor abnormal | Labor problem | Labor problem (finding) | Labor, abnormal | Labor, dysfunctional | Labour abnormal | Labour problem | Labour problem (disorder) | Unspecified abnormality of labor | Unspecified abnormality of labour | abnormal labor | abnormal; labor | delivery problem | delivery problems | difficult labor | dysfunctional labor | dysfunctional labor (physical finding) | dysfunctional labor was observed | dystocia | dystocias | labour problems MSH2017_2016_08_12:Slow or difficult OBSTETRIC LABOR or CHILDBIRTH. | NCI2016_02D:Uterine contractions (less than 3 in 10 minutes or inadequate strength) that do not result in progressive cervical dilation.(NICHD) | NCI2016_NICHD_1602D:Uterine contractions (less than 3 in 10 minutes or inadequate strength) that do not result in progressive cervical dilation. ICD10CM_2017:O66.9|ICD9CM_2014:661.9|MSH2017_2016_08_12:D004420|SNOMEDCT_US_2016_09_01:111448009|SNOMEDCT_US_2016_09_01:199746004|SNOMEDCT_US_2016_09_01:199816006|SNOMEDCT_US_2016_09_01:237323007|SNOMEDCT_US_2016_09_01:289255001|SNOMEDCT_US_2016_09_01:289261003|SNOMEDCT_US_2016_09_01:45757002 C4025636 Reduced orotidine 5-prime phosphate decarboxylase activity Reduced orotidine 5-prime phosphate decarboxylase activity HPO2016_07_04:An abnormal decrease in orotidine 5'-phosphate decarboxylase activity. [HPO:gcarletti] HPO2016_07_04:HP:0003267 C4022025 Asymmetric growth Asymmetric growth HPO2016_07_04:A growth pattern that displays an abnormal difference between the left and the right side. [HPO:probinson] HPO2016_07_04:HP:0100555 C0700078 Decreased tendon reflex DEEP TENDON REFLEX DECREASE | Decreased deep tendon reflexes | Decreased tendon reflex | Decreased tendon reflex (finding) | Decreased tendon reflexes | Depressed tendon reflexes | Diminished deep tendon reflexes | Hyporeflexia | TENDON REFLEXES DECREASED | Tendon reflex decreased | decreased tendon reflexes | tendon reflexes decreased HPO2016_07_04:Reduction of neurologic reflexes such as the knee-jerk reaction. [HPO:probinson] HPO2016_07_04:HP:0001265|OMIM2016_04_17:MTHU009719|SNOMEDCT_US_2016_09_01:405946002 C0341683 Echinococcosis kidney Echinococcosis kidney | Hydatid cyst of kidney | Hydatid cyst of kidney (disorder) | Renal hydatid cyst SNOMEDCT_US_2016_09_01:187144000 C0238044 Cardiomyopathy, concentric hypertrophic CARDIOMYOPATHY, CONCENTRIC HYPERTROPHIC | Concentric hypertrophic cardiomyopathy | Symmetric, concentric, hypertrophic cardiomyopathy HPO2016_07_04:Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. [HPO:probinson] HPO2016_07_04:HP:0005157 C1333759 Gallbladder oat cell carcinoma Gallbladder Oat Cell Carcinoma | Gallbladder Small Cell Carcinoma | Gallbladder Small Cell NEC | Gallbladder Small Cell Neuroendocrine Carcinoma | Oat Cell Carcinoma of Gallbladder | Oat Cell Carcinoma of the Gallbladder | Small Cell Carcinoma of Gallbladder | Small Cell Carcinoma of the Gallbladder | small cell carcinoma of gallbladder | small cell carcinoma of gallbladder (diagnosis) NCI2016_02D:An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells. C0280386 Epidermoid carcinoma of the nasopharynx, recurrent Nasopharyngeal squamous cell carcinoma recurrent | Recurrent Keratinizing Epidermoid Carcinoma of Nasopharynx | Recurrent Keratinizing Epidermoid Carcinoma of the Nasopharynx | Recurrent Keratinizing Squamous Cell Carcinoma of Nasopharynx | Recurrent Keratinizing Squamous Cell Carcinoma of the Nasopharynx | Recurrent Nasopharyngeal Keratinizing Epidermoid Carcinoma | Recurrent Nasopharyngeal Keratinizing Squamous Cell Carcinoma | Relapsed Keratinizing Epidermoid Carcinoma of Nasopharynx | Relapsed Keratinizing Epidermoid Carcinoma of the Nasopharynx | Relapsed Keratinizing Squamous Cell Carcinoma of Nasopharynx | Relapsed Keratinizing Squamous Cell Carcinoma of the Nasopharynx | Relapsed Nasopharyngeal Keratinizing Epidermoid Carcinoma | Relapsed Nasopharyngeal Keratinizing Squamous Cell Carcinoma | epidermoid carcinoma of the nasopharynx, recurrent | nasopharyngeal squamous cell carcinoma, recurrent | nasopharynx squamous cell carcinoma, recurrent | recurrent squamous cell carcinoma of the nasopharynx | squamous cell carcinoma of the nasopharynx, recurrent NCI2016_02D:The reemergence of keratinizing squamous cell carcinoma of the nasopharynx after a period of remission. C4280652 Prominent back of the head Prominent back of the head | Prominent posterior head | Protruding back of the head HPO2016_07_04:HP:0000269 C1857078 Mondini malformation Mondini malformation HPO2016_07_04:HP:0000376|OMIM2016_04_17:MTHU013263 C1851399 Facial palsy, familial recurrent peripheral FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL | Facial Palsy, Familial Recurrent Peripheral MSH2017_2016_08_12:C565028|OMIM2016_04_17:134200 C0410203 X-linked centronuclear myopathy CNMX | Centronuclear Myopathies, X-Linked | Centronuclear Myopathy, X-Linked | MTM | MTM1 | MTMX | MYOPATHY, CENTRONUCLEAR, X-LINKED | MYOTUBULAR MYOPATHY 1 | MYOTUBULAR MYOPATHY, X-LINKED | Myopathies, X-Linked Centronuclear | Myopathies, X-Linked Myotubular | Myopathy, X-Linked Centronuclear | Myopathy, X-Linked Myotubular | Myotubular Myopathies, X-Linked | Myotubular Myopathy 1 | Myotubular Myopathy, X Linked | Myotubular Myopathy, X-Linked | Severe x-linked myotubular myopathy | Severe x-linked myotubular myopathy (disorder) | X Linked Centronuclear Myopathy | X Linked Myotubular Myopathy | X-Linked Centronuclear Myopathies | X-Linked Centronuclear Myopathy | X-Linked Myotubular Myopathies | X-Linked Myotubular Myopathy | X-linked centronuclear myopathy | X-linked congenital recessive muscle hypotrophy with central nuclei | X-linked myotubular myopathy | X-linked myotubular myopathy (XLMTM, MTMX) | X-linked recessive centronuclear myopathy | X-linked recessive myotubular myopathy | XLCNM | XLMTM | myopathy myotubular x link | x-linked myotubular myopathy JABL99:An X-linked form of myotubular myopathy. Male patients are born as floppy infants with abnormalities of the extraocular, neck, and facial muscles and respiratory problems. Large heads with or without hydrocephalus, narrow elongated face, muscle hypotonia, and slender fingers are the principal manifestations. | NCI2016_02D:An X-linked recessive inherited disorder caused by mutations in the MTM1 gene. Primarily it affects males. Female carriers are usually asymptomatic. It is characterized by skeletal muscle weakness and hypotonia. The muscle weakness ranges from mild to severe. Newborns with severe X-linked centronuclear myopathy develop respiratory distress which may lead to respiratory failure requiring constant ventilator assistance. Patients with mild X-linked centronuclear myopathy usually require ventilator support during the newborn period only. MSH2017_2016_08_12:D020914|OMIM2016_04_17:300415|OMIM2016_04_17:310400|SNOMEDCT_US_2016_09_01:46804001 C1969040 Muscular dystrophy, limb-girdle, type 2m LGMD2M | MDDGC4 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 | Muscular Dystrophy, Limb-Girdle, Type 2M MSH2017_2016_08_12:C566912|OMIM2016_04_17:607440|OMIM2016_04_17:611588 C0042721 Viral hepatitis HEPATITIS VIRAL | Hepatic viral infections | Hepatitis viral | Hepatitis viral NOS | Hepatitis;viral | Unspecified viral hepatitis | Unspecified viral hepatitis (disorder) | VH - Viral hepatitis | VIRAL HEPATITIS | VIRUS HEPATITIS | Viral Hepatitis | Viral hepatitis | Viral hepatitis (B15-B19) | Viral hepatitis (disorder) | Viral hepatitis NOS | Viral hepatitis not otherwise specified | Viral hepatitis, NOS | Virus hepatitis | hepatitis viral | hepatitis; virus | infectious hepatitis (viral hepatitis) | viral hepatitis | viral hepatitis (diagnosis) | virus hepatitis | virus; hepatitis HPO2016_07_04:Inflammation of the liver due to infection with a virus. [HPO:probinson] | NCI2016_02D:An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis. | NCI2016_CTCAE_1602D:A disorder characterized by a viral pathologic process involving the liver parenchyma. HPO2016_07_04:HP:0006562|ICD10CM_2017:B15-B19|ICD10CM_2017:B19|ICD10CM_2017:B19.9|ICD9CM_2014:070|OMIM2016_04_17:MTHU014247|SNOMEDCT_US_2016_09_01:154346007|SNOMEDCT_US_2016_09_01:186642009|SNOMEDCT_US_2016_09_01:187432005|SNOMEDCT_US_2016_09_01:3738000 C4225278 Glioma susceptibility 9 GLIOMA SUSCEPTIBILITY 9 | GLM9 OMIM2016_04_17:606478|OMIM2016_04_17:616568 C0036330 Schistosomiasis mansoni Infection, Schistosoma mansoni | Infections, Schistosoma mansoni | Manson | Manson; schistosomiasis | SCHISTOSOMIASIS MANSONI | Schistosoma Mansoni Infection | Schistosoma mansoni Infection | Schistosoma mansoni Infections | Schistosoma mansoni infection | Schistosoma mansoni infection (disorder) | Schistosoma mansonii infection | Schistosoma mansonii infection (disorder) | Schistosoma; mansoni | Schistosomiasis due to Schistosoma mansoni [intestinal schistosomiasis] | Schistosomiasis due to schistosoma mansoni | Schistosomiasis mansoni | Schistosomiasis mansoni [Disease/Finding] | schistosomiasis mansoni | schistosomiasis; Manson | schistosomiasis; Schistosoma mansoni MSH2017_2016_08_12:Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver. ICD10CM_2017:B65.1|ICD9CM_2014:120.1|MSH2017_2016_08_12:D012555|SNOMEDCT_US_2016_09_01:750009 C1336380 Stage ivb keratinizing epidermoid carcinoma of nasopharynx Stage IVB Keratinizing Epidermoid Carcinoma of Nasopharynx | Stage IVB Keratinizing Epidermoid Carcinoma of the Nasopharynx | Stage IVB Keratinizing Squamous Cell Carcinoma of Nasopharynx | Stage IVB Keratinizing Squamous Cell Carcinoma of the Nasopharynx | Stage IVB Nasopharyngeal Keratinizing Epidermoid Carcinoma | Stage IVB Nasopharyngeal Keratinizing Squamous Cell Carcinoma | Stage IVB Nasopharyngeal Keratinizing Squamous Cell Carcinoma AJCC v7 | Stage IVB Nasopharynx Keratinizing Epidermoid Carcinoma | Stage IVB Nasopharynx Keratinizing Squamous Cell Carcinoma NCI2016_02D:Stage IVB includes: Any T, N3, M0. N3: Nasopharyngeal cancer with metastasis in a lymph node (s) more than 6 cm in greatest dimension and/or to supraclavicular fossa. Supraclavicular zone or fossa is relevant to the staging of nasopharyngeal carcinoma and is the triangular region originally described by Ho. It is defined by three points: (1) the superior margin of the sternal end of the clavicle, (2) the superior margin of the lateral end of the clavicle, (3) the point where the neck meets the shoulder. This would include caudal portions of levels IV and VB. All cases with lymph nodes (whole or part) in the fossa are considered N3b. M0: No distant metastasis. (AJCC 7th ed.) C1850169 Osteogenesis imperfecta, type ix (disorder) OI, TYPE IX | OI, Type IX | OI9 | OSTEOGENESIS IMPERFECTA, TYPE IX | OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) | Osteogenesis Imperfecta, Sillence Type II-III, Without Abnormality of Type I Collagen | Osteogenesis Imperfecta, Type IX MSH2017_2016_08_12:C564921|OMIM2016_04_17:123841|OMIM2016_04_17:259440 C1334767 Acinic cell adenocarcinoma of minor salivary gland Acinic Cell Adenocarcinoma of Minor Salivary Gland | Acinic Cell Adenocarcinoma of the Minor Salivary Gland | Acinic Cell Carcinoma of Minor Salivary Gland | Acinic Cell Carcinoma of the Minor Salivary Gland | Minor Salivary Gland Acinic Cell Adenocarcinoma | Minor Salivary Gland Acinic Cell Carcinoma NCI2016_02D:An adenocarcinoma with serous acinar cell differentiation that arises from the minor salivary glands. C0236048 Polyposis, gastric GASTRIC POLYP | GASTRIC POLYPS | Gastric Polyp | Gastric Polyposa | Gastric Polyposis | Gastric polyp | Gastric polyp (disorder) | Gastric polyp, NOS | Gastric polyposis | Gastric polyposis (disorder) | Gastric polyps | Gastritis polyposa | Multiple gastric polyps | POLYPOSIS GASTRIC | POLYPOSIS, GASTRIC | Polyp of stomach | Polyp(s);stomach | Polyposis gastric | Polyposis, Gastric | Polyps of Stomach | Polyps of the Stomach | gastric polyp | gastric polyposis | gastric polyposis (diagnosis) | gastric polyps | gastric polyps (diagnosis) | polyp gastric | polyp stomach | polyp; stomach | polyps gastric | polyps stomach | stomach polyp | stomach polyps | stomach; polyp NCI2016_02D:A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps). HPO2016_07_04:HP:0004394|MSH2017_2016_08_12:C562464|OMIM2016_04_17:175020|OMIM2016_04_17:MTHU016117|SNOMEDCT_US_2016_09_01:188815002|SNOMEDCT_US_2016_09_01:255170006|SNOMEDCT_US_2016_09_01:78809005|SNOMEDCT_US_2016_09_01:87252009 C0746536 Mental status altered confusional state acute MENTAL STATUS ALTERED CONFUSIONAL STATE ACUTE C4024716 Secondary growth hormone deficiency Secondary growth hormone deficiency HPO2016_07_04:HP:0008240 C1834034 Absent/hypoplastic middle phalanx of 5th finger Absent/hypoplastic middle phalanx of 5th finger | Absent/small middle bone of pinky finger | Absent/underdeveloped middle bone of little finger | Absent/underdeveloped middle bone of pinkie finger | Absent/underdeveloped middle bone of pinky finger | Aplasia/Hypoplasia of the middle phalanx of the 5th finger HPO2016_07_04:Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. [HPO:curators] HPO2016_07_04:HP:0009161|OMIM2016_04_17:MTHU016587 C2882928 Atherosclerosis of nonbiological bypass graft of extremities with rest pain Atherosclerosis of nonbiological bypass graft(s) of the extremities with rest pain | atherosclerosis of nonbiological bypass graft of extremities with rest pain | atherosclerosis of nonbiological bypass graft of extremities with rest pain (diagnosis) ICD10CM_2017:I70.62 C0032969 Pregnancy in diabetics DIABETES MELLITUS PREGNANCY | DIABETES MELLITUS, IN PREGNANCY | Diabetes in pregnancy | Diabetes mellitus in pregnancy | Diabetes mellitus in pregnancy, unspecified | Diabetes mellitus of mother, complicating pregnancy, childbirth, or the puerperium, antepartum condition or complication | Diabetes mellitus, antepartum | Pregnancy and Diabetes | Pregnancy in Diabete | Pregnancy in Diabetes | Pregnancy in Diabetic | Pregnancy in Diabetics | Pregnancy in Diabetics [Disease/Finding] | Unspecified diabetes mellitus in pregnancy | Unspecified diabetes mellitus in pregnancy, unspecified trimester | diabetes in pregnancy | diabetes mellitus in pregnancy | diabetes mellitus in pregnancy (diagnosis) | diabetes mellitus pregnancy | diabetes pregnancy | diabetic in pregnancy | diabetic pregnancies | diabetic pregnancy | diabetics in pregnancy | diabetics pregnancy | in diabetic pregnancy | pregnancy diabetes | pregnancy diabetes mellitus | pregnancy diabetic | pregnancy in diabetes MSH2017_2016_08_12:The state of PREGNANCY in women with DIABETES MELLITUS. This does not include either symptomatic diabetes or GLUCOSE INTOLERANCE induced by pregnancy (DIABETES, GESTATIONAL) which resolves at the end of pregnancy. ICD10CM_2017:O24.91|ICD10CM_2017:O24.919|ICD9CM_2014:648.03|MSH2017_2016_08_12:D011254 C0030186 Paget disease extramammary Cutaneous Paget's Disease | Extra Mammary Paget Disease | Extra Mammary Paget's Disease | Extra-Mammary Paget Disease | Extra-Mammary Paget's Disease | Extra-Mammary Pagets Disease | Extramammary Paget Disease | Extramammary Paget's Disease | Extramammary Paget's disease | Extramammary Paget's disease (morphologic abnormality) | Extramammary Pagets Disease | Extramammary, Paget Disease | PAGET DISEASE, EXTRAMAMMARY | Paget Disease Extramammary | Paget Disease, Extra Mammary | Paget Disease, Extra-Mammary | Paget Disease, Extramammary | Paget Disease, Extramammary [Disease/Finding] | Paget disease of skin | Paget disease, extramammary (except Paget disease of bone) | Paget's Disease of Skin | Paget's Disease of the Skin | Paget's Disease, Extra Mammary | Paget's Disease, Extra-Mammary | Paget's Disease, Extramammary | Paget's Skin Disease | Paget's dis ex-mamm ex bone | Paget's disease of skin | Paget's disease of skin (morphologic abnormality) | Paget's disease, extramammary (except Paget's disease of bone) | Paget's disease, extramammary (except Paget's disease of bone) (morphologic abnormality) | Paget's disease, extramammary, exc Paget's disease bone | Paget's disease, extramammary, excluding Paget's disease of bone | Pagets Disease, Extra-Mammary | Pagets Disease, Extramammary | [M]Paget's dis ex-mamm ex bone | [M]Paget's disease, extramammary, exc Paget's disease bone | [M]Paget's disease, extramammary, excluding Paget's disease of bone | [M]Paget's disease, extramammary, excluding Paget's disease of bone (morphologic abnormality) | diseases paget's skin | extra mammary paget's disease | extra-mammary paget's disease | extra-mammary pagets disease | extramammary Paget's disease | extramammary Paget's disease (diagnosis) | extramammary paget disease | extramammary paget's disease | extramammary pagets disease | paget's disease extramammary | paget's disease of skin | paget's skin disease MSH2017_2016_08_12:A rare cutaneous neoplasm that occurs in the elderly. It develops more frequently in women and predominantly involves apocrine gland-bearing areas, especially the vulva, scrotum, and perianal areas. The lesions develop as erythematous scaly patches that progress to crusted, pruritic, erythematous plaques. The clinical differential diagnosis includes squamous cell carcinoma in situ and superficial fungal infection. It is generally thought to be an adenocarcinoma of the epidermis, from which it extends into the contiguous epithelium of hair follicles and eccrine sweat ducts. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1478) | NCI2016_02D:A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva. MSH2017_2016_08_12:D010145|OMIM2016_04_17:167300|SNOMEDCT_US_2016_09_01:232336001|SNOMEDCT_US_2016_09_01:302830004|SNOMEDCT_US_2016_09_01:71447003 C0423276 Shallow anterior chamber of eye AC shallow | Anterior chamber shallow | Shallow AC | Shallow anterior chamber | Shallow anterior chamber of eye | Shallow anterior chamber of eye (finding) HPO2016_07_04:Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. [HPO:probinson] HPO2016_07_04:HP:0000594|OMIM2016_04_17:MTHU002325|SNOMEDCT_US_2016_09_01:246986004 C3150859 Forsythe-wakeling syndrome FORSYTHE-WAKELING SYNDROME | FWS | MICROCEPHALY AND GROWTH RETARDATION WITH CHILDHOOD-ONSET NEPHROTIC SYNDROME AND THROMBOCYTOPENIA OMIM2016_04_17:613606 C1833225 Dystrophic toenail changes Dystrophic toenail | Dystrophic toenail changes | Dystrophic toenails | Poor toenail formation HPO2016_07_04:Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. [HPO:probinson] HPO2016_07_04:HP:0001810|OMIM2016_04_17:MTHU004819|OMIM2016_04_17:MTHU006293 C3809420 Cortical dysplasia, complex, with other brain malformations 4 CDCBM4 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 OMIM2016_04_17:191135|OMIM2016_04_17:615412 C1845245 Lower limb hypertonia Hypertonia (in lower limbs) | Lower limb hypertonia HPO2016_07_04:HP:0006895|OMIM2016_04_17:MTHU008206|OMIM2016_04_17:MTHU042384 C2986768 Injected dose ID | Injected Dose NCI2016_02D:The activity of a tracer injected at the beginning of a scan.(Dr. Joseph A. Thie) C3554453 Spermatogenic failure 11 SPERMATOGENIC FAILURE 11 | SPGF11 OMIM2016_04_17:608778|OMIM2016_04_17:615081 C3647157 Other gynecologic disorders other gynecologic disorders | other gynecologic disorders (diagnosis) C0854979 Stage i large cell carcinoma of lung Large cell lung cancer stage I | Stage I Large Cell Carcinoma of Lung | Stage I Large Cell Carcinoma of the Lung | Stage I Large Cell Lung Carcinoma | Stage I Large Cell Lung Carcinoma AJCC v7 NCI2016_02D:Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less n greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.) C1850102 Palant cleft palate syndrome PALANT CLEFT PALATE SYNDROME | Palant cleft palate syndrome | Unusual facies, cleft palate, mental retardation, and limb abnormalities MSH2017_2016_08_12:C538102|OMIM2016_04_17:260150 C0426848 Sacral dimples Pilonidal Dimple | Pilonidal dimple | Sacral Dimple | Sacral Pit | Sacral Sinus | Sacral dimple | Sacral dimple (finding) | Sacral dimples | Sacral dimples (finding) | Sacral sinus | Spinal dimple | dimple sacral | dimples sacral | sacral dimple | sacral dimples HPO2016_07_04:A subtype of skin dimples presenting as an indentation in the skin of the intergluteal cleft . [HPO:probinson] | NCI2016_02D:A small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area. | NCI2016_NICHD_1602D:A blind-ending, epithelial-lined tract that is located 5-25 mm from the anal verge. HPO2016_07_04:HP:0000960|ICD10CM_2017:L05.91|OMIM2016_04_17:MTHU014891|OMIM2016_04_17:MTHU036757|OMIM2016_04_17:MTHU037223|SNOMEDCT_US_2016_09_01:141616007|SNOMEDCT_US_2016_09_01:164429008|SNOMEDCT_US_2016_09_01:249729002|SNOMEDCT_US_2016_09_01:311897005 C0029773 Other specified diseases of the salivary glands Other specified diseases of the salivary glands ICD9CM_2014:527.8 C1331541 Dysplasia; thymic Thymic Dysplasia | dysplasia; thymic | thymic; dysplasia NCI2016_02D:The developmental arrest and architectural distortion of the thymus that results in immunodeficiency. C0751884 Congenital myasthenic syndromes, presynaptic Congenital Myasthenic Syndromes, Presynaptic | Presynaptic Congenital Myasthenic Syndromes MSH2017_2016_08_12:D020294 C0558355 Tonsillar carcinoma Cancer of Tonsil | Cancer of the Tonsil | Cancer of tonsil | Carcinoma of Tonsil | Carcinoma of the Tonsil | TONSIL, CARCINOMA | TONSILLAR CANCER, CARCINOMA | Tonsil Cancer | Tonsil Carcinoma | Tonsil carcinoma | Tonsil carcinoma (disorder) | Tonsillar Cancer | Tonsillar Carcinoma | Tonsillar carcinoma | carcinoma of tonsil | carcinoma of tonsil (diagnosis) | carcinoma tonsil | carcinoma tonsils | oropharyngeal neoplasm tonsil malignant carcinoma | tonsil carcinoma | tonsillar carcinoma NCI2016_02D:A carcinoma arising from the tonsilar epithelium. SNOMEDCT_US_2016_09_01:269519000|SNOMEDCT_US_2016_09_01:274085008|SNOMEDCT_US_2016_09_01:93937006 C0042470 Guanarito haemorrhagic fever Guanarito haemorrhagic fever | Guanarito hemorrhagic fever | Venezuelan haemorrhagic fever | Venezuelan haemorrhagic fever (disorder) | Venezuelan haemorrhagic fever [Ambiguous] | Venezuelan hemorrhagic fever | Venezuelan hemorrhagic fever (disorder) SNOMEDCT_US_2016_09_01:186609008|SNOMEDCT_US_2016_09_01:359673001 C2931214 Absence of all four limbs with ectodermal dysplasia and lacrimal duct abnormalities Absence of all four limbs with ectodermal dysplasia and lacrimal duct abnormalities | TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES | Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities | Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities MSH2017_2016_08_12:C536496|OMIM2016_04_17:273390 C0275998 Early; yaws Early Yaws | Early yaws | Early yaws (disorder) | early; yaws | yaws; early NCI2016_02D:Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly. SNOMEDCT_US_2016_09_01:23191004 C4022001 Abnormality of the cerebral vasculature Abnormality of the cerebral blood vessels | Abnormality of the cerebral vasculature HPO2016_07_04:HP:0100659 C0936256 Lysine alpha-ketoglutarate reductase deficiency disease Deficiency Disease, Lysine Alpha Ketoglutarate Reductase | Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase | Lysine Alpha Ketoglutarate Reductase Deficiency Disease | Lysine Alpha-Ketoglutarate Reductase Deficiency Disease MSH2017_2016_08_12:D020167 C0036946 Sheep--diseases Disease, Ovine | Disease, Sheep | Diseases, Ovine | Diseases, Sheep | Ovine Disease | Ovine Diseases | Sheep Disease | Sheep Diseases | Sheep--Diseases MSH2017_2016_08_12:Diseases of domestic and mountain sheep of the genus Ovis. MSH2017_2016_08_12:D012757 C0030807 Pemphigus PEMPHIGUS | Pemphigus | Pemphigus (disorder) | Pemphigus NOS | Pemphigus NOS (disorder) | Pemphigus [Disease/Finding] | Pemphigus, NOS | Pemphigus, unspecified | pemphigus | pemphigus (diagnosis) CSP2006:group of chronic blistering diseases characterized histologically by acantholysis and blister formation within the epidermis. | MEDLINEPLUS_20151021:Pemphigus is an autoimmune disorder. If you have it, your immune system attacks healthy cells in your skin and mouth, causing blisters and sores. No one knows the cause. Pemphigus does not spread from person to person. It does not appear to be inherited. But some people's genes put them more at risk for pemphigus.
Pemphigoid is also an autoimmune skin disease. It leads to deep blisters that do not break easily. Pemphigoid is most common in older adults and may be fatal for older, sick patients.
Doctors diagnose pemphigus with a physical exam, a biopsy, and blood tests. The treatment of pemphigus and pemphigoid is the same: one or more medicines to control symptoms. These may include
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
| MSH2017_2016_08_12:Group of chronic blistering diseases characterized histologically by ACANTHOLYSIS and blister formation within the EPIDERMIS. | NCI2016_02D:A blistering skin disorder. Morphologically it is characterized by acantholysis and intraepidermal blister formation. ICD10CM_2017:L10|ICD10CM_2017:L10.9|ICD9CM_2014:694.4|MSH2017_2016_08_12:D010392|SNOMEDCT_US_2016_09_01:156355008|SNOMEDCT_US_2016_09_01:200908008|SNOMEDCT_US_2016_09_01:65172003 C0023869 Lithiasis Calculoses | Calculosis | Calculosis, NOS | Lithiases | Lithiasis | Lithiasis (morphologic abnormality) | Lithiasis [Disease/Finding] | Lithiasis, NOS | calculosis | lithiasis MSH2017_2016_08_12:A condition characterized by the formation of CALCULI and concretions in the hollow organs or ducts of the body. They occur most often in the gallbladder, kidney, and lower urinary tract. | NCI2016_02D:The formation of stones (calculi) in the body. MSH2017_2016_08_12:D020347|SNOMEDCT_US_2016_09_01:66058000 C1531553 Dendritic cell neoplasm Dendritic cell neoplasm | Dendritic cell neoplasm (morphologic abnormality) SNOMEDCT_US_2016_09_01:413967009 C2750068 Roifman-chitayat syndrome COMBINED IMMUNODEFICIENCY, FACIAL DYSMORPHISM, OPTIC NERVE ATROPHY, SKELETAL ANOMALIES, AND DEVELOPMENTAL DELAY | Combined Immunodeficiency, Facial Dysmorphism, Optic Nerve Atrophy, Skeletal Anomalies, And Developmental Delay | ROIFMAN-CHITAYAT SYNDROME | Roifman-Chitayat Syndrome MSH2017_2016_08_12:C567641|OMIM2016_04_17:613328 C4024097 Broad 1st metacarpal Broad 1st metacarpal | Wide 1st long bone of hand HPO2016_07_04:Increased width of the 1st metacarapal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:curators] HPO2016_07_04:HP:0010027 C1304181 Allergic urticaria due to inhaled agent Allergic urticaria due to inhaled allergen | Allergic urticaria due to inhaled allergen (disorder) | allergic urticaria due to inhaled agent | allergic urticaria due to inhaled agent (diagnosis) | urticaria allergic due to inhaled agent SNOMEDCT_US_2016_09_01:402386006 C0343939 Trichosporonoses Trichosporonoses | Trichosporonosis | Trichosporonosis (disorder) | Trichosporonosis [Disease/Finding] | trichosporonosis (diagnosis) MSH2017_2016_08_12:Fungal infections caused by TRICHOSPORON that may become systemic especially in an IMMUNOCOMPROMISED HOST. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs. MSH2017_2016_08_12:D060586|SNOMEDCT_US_2016_09_01:240761008 C3554399 Night blindness, congenital stationary, type 1f CSNB1F | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F | congenital stationary night blindness - type 1f | congenital stationary night blindness - type 1f (diagnosis) OMIM2016_04_17:615004|OMIM2016_04_17:615058 C0155626 Acute myocardial infarction AMI | AMI - Acute myocardial infarction | Acute MI | Acute Myocardial Infarction | Acute myocardial infarct. NOS | Acute myocardial infarction | Acute myocardial infarction (disorder) | Acute myocardial infarction NOS | Acute myocardial infarction NOS (disorder) | Acute myocardial infarction of unspecified site, episode of care unspecified | Acute myocardial infarction, NOS | Acute myocardial infarction, unspecified | Acute myocardial infarction, unspecified site | Acute myocardial infarction, unspecified site, episode of care unspecified | Infarction;myocardial;acute | MI - Acute myocardial infarction | MI - acute myocardial infarction | MI, ACUTE | MI/Acute myocardial infarction | MYOCARDIAL INFARCTION ACUTE | MYOCARDIUM, INFARCTION, ACUTE | Myocardial infarction (acute) NOS | Myocardial infarction acute | acute MI | acute mi | acute myocardial infarction | acute myocardial infarction (MI) | acute myocardial infarction (diagnosis) | ami NCI2016_02D:Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations. ICD10CM_2017:I21.3|ICD9CM_2014:410|ICD9CM_2014:410.9|ICD9CM_2014:410.90|SNOMEDCT_US_2016_09_01:155304006|SNOMEDCT_US_2016_09_01:194796000|SNOMEDCT_US_2016_09_01:194811003|SNOMEDCT_US_2016_09_01:266288001|SNOMEDCT_US_2016_09_01:57054005 C0750242 Vertebra scoliosis VERTEBRA SCOLIOSIS C0265910 Congenital hypoplasia of pulmonary artery Congenital hypoplasia of pulmonary artery | Congenital hypoplasia of pulmonary artery (disorder) | Hypoplasia of pulmonary artery | Pulmonary artery hypoplasia | Underdeveloped lung artery | Underdeveloped pulmonary artery | a.pulmonalis; hypoplasia | hypoplasia of pulmonary artery | hypoplasia of pulmonary artery (diagnosis) | hypoplasia; pulmonary artery HPO2016_07_04:Underdevelopment of the pulmonary artery. [HPO:probinson] HPO2016_07_04:HP:0004971|ICD10CM_2017:Q25.79|OMIM2016_04_17:MTHU011988|SNOMEDCT_US_2016_09_01:54682008 C1845285 Martin-probst deafness-mental retardation syndrome MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME | MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE | MRXSMP | Martin-Probst Deafness-Mental Retardation Syndrome MSH2017_2016_08_12:C564495|OMIM2016_04_17:300519 C0546476 Multiple self-healing squamous epithelioma ESS1, FORMERLY | Epithelioma, self-healing squamous, 1 | FERGUSON-SMITH TYPE EPITHELIOMA | Familial keratoacanthoma | Ferguson-Smith Type epithelioma | Hereditary keratoacanthoma | Hereditary keratoacanthoma (disorder) | Keratoacanthoma familial | Multiple keratoacanthoma | Multiple self-healing squamous epithelioma SNOMEDCT_US_2016_09_01:A rare inherited skin cancer syndrome with the coexistence of features characteristic of both multiple keratoacanthoma, Ferguson Smith type and generalised eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant. | SNOMEDCT_US_2016_09_01:A rare inherited skin cancer syndrome with the coexistence of features characteristic of both multiple keratoacanthoma, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant. MSH2017_2016_08_12:C536150|OMIM2016_04_17:132800|SNOMEDCT_US_2016_09_01:716774008 C0740927 Elevated maternal serum alpha-fetoprotein ALPHA FETOPROTEIN ELEVATED MATERNAL SERUM | Elevated maternal serum alpha-fetoprotein HPO2016_07_04:An elevation of alpha-feto protein in the maternal serum. [HPO:curators] HPO2016_07_04:HP:0005984|OMIM2016_04_17:MTHU007351 C0796160 Mental retardation, x-linked, snyder-robinson type MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE | MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE | MRXSSR | Mental Retardation, X-Linked, Snyder-Robinson Type | Mental retardation, x-linked, Snyder-Robinson type | SNYDER-ROBINSON MENTAL RETARDATION SYNDROME | SRS | Snyder Robinson syndrome | Snyder-Robinson Mental Retardation Syndrome | Snyder-Robinson Syndrome | Snyder-Robinson syndrome | Snyder-Robinson syndrome (SRS) | Snyder-Robinson x-linked mental retardation syndrome | Snyder-Robinson x-linked mental retardation syndrome (disorder) | X-linked mental retardation Snyder - Robinson type | X-linked mental retardation-thin habitus-osteoporosis-kyphoscoliosis syndrome JABL99:This syndrome was originally reported as a nonspecific form of MXLR. The phenotype was later redefined to include large head, asthenic body build with diminished muscle bulk, marfanoid habitus (tall stature with long and slim limbs, little subcutaneous fat, muscle hypotonia, and arachnodactyly), nasal speech, characteristic facies, scoliosis, thin fingers, and other anomalies. MSH2017_2016_08_12:C536678|OMIM2016_04_17:300105|OMIM2016_04_17:309583|SNOMEDCT_US_2016_09_01:702416008 C0028758 Bonding Attachment, Object | Attachments, Object | Bonding (Psychology) | Bonding, Psychological | Bondings (Psychology) | Object Attachment | Object Attachments | Object Relationship | Object Relationships | Psychological Bonding | Pyschological Bonding | Relationship, Object | Relationships, Object | bonding | emotional bonding | psychological bonding MSH2017_2016_08_12:Emotional attachment to someone or something in the environment. MSH2017_2016_08_12:D009769 C0018213 Graves disease Autoimmune hyperthyroidism | BASEDOW DISEASE | Basedow | Basedow Disease | Basedow disease | Basedow's Disease | Basedow's disease | Basedow's disease (disorder) | Basedows Disease | Basedows disease | DISEASE GRAVES' | Disease Graves' | Disease, Basedow | Disease, Basedow's | Disease, Graves | Disease, Graves' | Disease;Basedows | Disease;Graves | EXOPHTHALMIC GOITER | EXOPHTHALMIC GOITRE | Exophthalmic Goiter | Exophthalmic Goiters | Exophthalmic goiter | Exophthalmic goitre | FLAJANI DISEASE | Flajani | GOITER EXOPHTHALMIC | GOITER, EXOPHTHALMIC | GRAVE DISEASE | GRAVES DISEASE | GRAVES' DISEASE | Goiter exophthalmic | Goiter, Exophthalmic | Goiters, Exophthalmic | Goitre exophthalmic | Grave's disease | Graves | Graves Disease | Graves Disease [Disease/Finding] | Graves disease | Graves' Disease | Graves' Disease - hyperthyroidism | Graves' disease | Graves' disease (diagnosis) | Graves' disease (diffuse toxic goiter) | Graves' disease (disorder) | Graves' disease [Ambiguous] | Graves' disease with exophthalmos | Graves-Basedow disease | HYPERTHYROIDISMCampylobacter infection is a common foodborne illness. You get it from eating raw or undercooked poultry. You can also get it from coming in contact with contaminated packages of poultry. Symptoms include
Some infected people don't have any symptoms. The illness usually lasts one week. Most people get better without treatment. You should drink extra fluids for as long as the diarrhea lasts. Your doctor will decide whether you need to take antibiotics.
To prevent campylobacter infection, cook poultry thoroughly. Use a separate cutting board and utensils for meats and clean them carefully with soap and hot water after use.
Centers for Disease Control and Prevention
| MSH2017_2016_08_12:Infections with bacteria of the genus CAMPYLOBACTER. MSH2017_2016_08_12:D002169|SNOMEDCT_US_2016_09_01:86500004 C1862421 Widened distal phalanges Widened distal phalanges | Widened outermost bone of limb HPO2016_07_04:HP:0006200|OMIM2016_04_17:MTHU019377 C0003152 Anterior tibial syndrome ACS - Anterior tibial compartment syndrome | ANTERIOR TIBIAL SYNDROME | Anterior Compartment Syndrome | Anterior Compartment Syndrome [Disease/Finding] | Anterior Compartment Syndromes | Anterior Tibial Syndrome | Anterior Tibial Syndromes | Anterior compartment syndrome | Anterior tibial compartment syndrome | Anterior tibial compartment syndrome (disorder) | Anterior tibial syndrome | Compartment Syndrome, Anterior | Compartment Syndromes, Anterior | Syndrome, Anterior Compartment | Syndrome, Anterior Tibial | Syndromes, Anterior Compartment | Syndromes, Anterior Tibial | Tibial Syndrome, Anterior | Tibial Syndromes, Anterior | anterior compartment syndrome | anterior tibial syndrome | compartment syndrome anterior | compartment syndrome of anterior tibia | compartment syndrome of anterior tibia (diagnosis) | compartment syndrome of anterior tibial | compartment syndrome of anterior tibial compartment MSH2017_2016_08_12:Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION. ICD10CM_2017:M76.81|MSH2017_2016_08_12:D000868|SNOMEDCT_US_2016_09_01:12694001|SNOMEDCT_US_2016_09_01:157669006|SNOMEDCT_US_2016_09_01:212379008|SNOMEDCT_US_2016_09_01:269407005 C0268583 Methylmalonic acidemia Acidemia, methylmalonic | Isolated Methylmalonic Acidemia | MMA - Methylmalonic aciduria | Methylmalonic Acidemia | Methylmalonic Aciduria | Methylmalonic acidaemia | Methylmalonic acidemia | Methylmalonic acidemia (disorder) | Methylmalonic acidemia, NOS | Methylmalonic acidemias | Methylmalonic aciduria | acidemia; methylmalonic | acidemias methylmalonic | disorder; methylmalonic acidemia | methylmalonic acidaemia | methylmalonic acidemia | methylmalonic acidemia (diagnosis) | methylmalonic acidemia; disorder | methylmalonic aciduria | methylmalonic; acidemia CSP2006:autosomal recessive aminoacidopathy characterized by an excess of methylmalonic acid in the blood and urine, with metabolic ketoacidosis, hyperglycinemia, hyperglycinuria and hyperammonemia; results from defects that cause deficiencies of methylmalonyl-CoA mutase. | HPO2016_07_04:Increased concentration of methylmalonic acid in the blood. [HPO:probinson] | NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease. HPO2016_07_04:HP:0002912|ICD10CM_2017:E71.120|MSH2017_2016_08_12:C537358|OMIM2016_04_17:MTHU037722|SNOMEDCT_US_2016_09_01:190727006|SNOMEDCT_US_2016_09_01:42393006 C4225217 Heterotaxy, visceral, 7, autosomal HETEROTAXY, VISCERAL, 7, AUTOSOMAL | HTX7 OMIM2016_04_17:608416|OMIM2016_04_17:616749 C1290865 Abdominal wall disorder Abdominal wall disorder | Disease of abdominal wall | Disease of abdominal wall (disorder) | Disorder of abdominal wall | Disorder of abdominal wall (disorder) SNOMEDCT_US_2016_09_01:118928003 C4020800 Decreased activity of mitochondrial complex iv Decreased activity of mitochondrial complex IV | Respiratory complex IV deficiency HPO2016_07_04:A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. [HPO:probinson] HPO2016_07_04:HP:0008347 C0153602 Malignant tumor of epididymis Epididymal cancer | Malignant Epididymal Neoplasm | Malignant Epididymal Tumor | Malignant Neoplasm of Epididymis | Malignant Neoplasm of the Epididymis | Malignant Tumor of Epididymis | Malignant Tumor of the Epididymis | Malignant epididymal neoplasm NOS | Malignant neoplasm of epididymis | Malignant tumor of epididymis | Malignant tumor of epididymis (disorder) | Malignant tumour of epididymis | cancer of epididymis | malignant neoplasm of epididymis | malignant neoplasm of epididymis (diagnosis) | malignant tumor of epididymis NCI2016_02D:A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site. ICD10CM_2017:C63.0|ICD9CM_2014:187.5|SNOMEDCT_US_2016_09_01:363452003|SNOMEDCT_US_2016_09_01:93783009 C0342728 3-methylglutaconic aciduria type 1 3-Methylglutaconic Aciduria Type 1 | 3-Methylglutaconic aciduria type 1 | 3-Methylglutaconic aciduria type 1 (disorder) | 3-Methylglutaconyl-CoA hydratase deficiency with 3-methylglutaconic acid NCI2016_02D:3-methylglutaconic aciduria inherited in an autosomal recessive pattern and caused by mutations in the AUH gene. Signs and symptoms include psychomotor developmental abnormalities, speech delay, weakness and spasm of the extremities, dystonia, and metabolic acidosis. SNOMEDCT_US_2016_09_01:237951008 C0014556 Epilepsy, temporal lobe CONVULSION PSYCHOMOTOR | CONVULSION, PSYCHOMOTOR | Convulsion psychomotor | EPILEPSY TEMPORAL LOBE | EPILEPSY, TEMPORAL LOBE | Epilepsies, Temporal Lobe | Epilepsy temporal lobe | Epilepsy, Temporal Lobe | Epilepsy, Temporal Lobe [Disease/Finding] | Epilepsy, temporal lobe | Epilepsy;temporal lobe | PSYCHOMOTOR EQUIVALENT | Psychomotor seizure | Psychomotor seizure (finding) | Psychomotor seizures | SEIZURE DISORDER TEMPORAL LOBE | SEIZURE PSYCHOMOTOR | SEIZURE TEMPORAL LOBE | Seizures, temporal lobe | TLE - Temporal lobe epilepsy | Temporal Lobe Epilepsies | Temporal Lobe Epilepsy | Temporal lobe epilepsy | Temporal lobe epilepsy (disorder) | Temporal lobe epilepsy (disorder) [Ambiguous] | Temporal lobe epilepsy syndrome | convulsions; psychomotor | disorder temporal lobe epilepsy | epilepsy lobe temporal | epilepsy; temporal lobe | lobe seizures temporal | lobe temporal seizure | psychomotor seizure | psychomotor seizures | psychomotor; convulsions | seizures temporal lobe | temporal lobe epilepsy | temporal lobe seizure | temporal lobe; epileptic | tle MSH2017_2016_08_12:A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321) MSH2017_2016_08_12:D004833|OMIM2016_04_17:MTHU006422|OMIM2016_04_17:MTHU019644|OMIM2016_04_17:MTHU035831|SNOMEDCT_US_2016_09_01:155040000|SNOMEDCT_US_2016_09_01:193000002|SNOMEDCT_US_2016_09_01:84340007 C0026470 Monoclonal gammopathy of undetermined significance Asymptomatic monoclonal gammopathy | BENIGN MONOCLONAL GAMMOPATHY | BENIGN MONOCLONAL HYPERGAMMAGLOBUMINEMIA | BMH | Benign Monoclonal Gammapathies | Benign Monoclonal Gammapathy | Benign Monoclonal Gammopathies | Benign Monoclonal Gammopathy | Benign monoclonal gammopathy | Benign monoclonal gammopathy (disorder) | Benign monoclonal hypergammaglobulinaemia | Benign monoclonal hypergammaglobulinemia | GAMMOPATHY MONOCLONAL BENIGN | GAMMOPATHY MONOCLONAL UNCERTAIN SIGNIFICANCE | Gammapathies, Benign Monoclonal | Gammapathy, Benign Monoclonal | Gammopathies, Benign Monoclonal | Gammopathy, Benign Monoclonal | Hypergammaglobulinaemia benign monoclonal | Hypergammaglobulinemia benign monoclonal | MGUS | MGUS - Monoclonal gammopathy of uncertain significance | MGUS undetermined | Monoclonal Gammapathies, Benign | Monoclonal Gammapathy of Undetermined Significance | Monoclonal Gammapathy, Benign | Monoclonal Gammopathies, Benign | Monoclonal Gammopathy Of Undetermined Significance (MGUS) | Monoclonal Gammopathy of Undetermined Significance | Monoclonal Gammopathy of Undetermined Significance [Disease/Finding] | Monoclonal Gammopathy of Unknown Significance | Monoclonal Gammopathy, Benign | Monoclonal gammopathy of uncertain significance | Monoclonal gammopathy of uncertain significance (disorder) | Monoclonal gammopathy of undetermined significance | Monoclonal gammopathy of undetermined significance (MGUS) | Monoclonal gammopathy of undetermined significance (MGUS) (disorder) | Monoclonal gammopathy of undetermined significance (morphologic abnormality) | Monoclonal gammopathy of undetermined significance [MGUS] | Monoclonal gammopathy of unknown significance | benign monoclonal gammapathy | benign monoclonal gammopathy | benign monoclonal hypergammaglobulinemia | benign monoclonal hypergammaglobulinemia (diagnosis) | gammopathy monoclonal | gammopathy; monoclonal, of undetermined significance | mgus | monoclonal gammopathy | monoclonal gammopathy of undetermined significance | monoclonal gammopathy of undetermined significance (diagnosis) | monoclonal; gammopathy, of undetermined significance | plasma cell neoplasm, monoclonal gammopathy of unknown significance MSH2017_2016_08_12:Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia. | NCI2016_02D:A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases. | NCI2016_NCI-GLOSS_1602D:A benign condition in which there is a higher-than-normal level of a protein called M protein in the blood. Patients with MGUS are at an increased risk of developing cancer. ICD10CM_2017:D47.2|MSH2017_2016_08_12:D008998|SNOMEDCT_US_2016_09_01:128087008|SNOMEDCT_US_2016_09_01:277577000|SNOMEDCT_US_2016_09_01:35601003|SNOMEDCT_US_2016_09_01:58648008 C1328252 Mucocutaneous leishmaniasis American cutaneous leishmaniasis | American mucocutaneous leishmaniasis | American mucocutaneous leishmaniasis (disorder) | Breda | Espundia | Leishmaniases, Mucocutaneous | Leishmaniasis, Mucocutaneous | Leishmaniasis, Mucocutaneous [Disease/Finding] | Leishmaniasis, mucocutaneous | Leishmaniasis, mucocutaneous, American | Mucocutaneous Leishmaniases | Mucocutaneous Leishmaniasis | Mucocutaneous leishmaniasis | Mucocutaneous leishmaniasis (diagnosis) | Mucocutaneous leishmaniasis, (American) | Mucocutaneous leishmaniasis, American | Mucosal leishmaniasis | espundia | leishmaniasis mucocutaneous | leishmaniasis; mucocutaneous | mucocutaneous; leishmaniasis MSH2017_2016_08_12:A disease characterized by the chronic, progressive spread of lesions from New World cutaneous leishmaniasis caused by species of the L. braziliensis complex to the nasal, pharyngeal, and buccal mucosa some time after the appearance of the initial cutaneous lesion. Nasal obstruction and epistaxis are frequent presenting symptoms. ICD10CM_2017:B55.2|ICD9CM_2014:085.5|MSH2017_2016_08_12:D007897|SNOMEDCT_US_2016_09_01:186810001|SNOMEDCT_US_2016_09_01:39625001|SNOMEDCT_US_2016_09_01:403135004 C1858085 Malar flattening Decreased size of malar bone | Depressed malar region | Flat midface | Malar flattening | Malar hypoplasia | Mid-face hypoplasia | Underdevelopment of malar bone | Zygomatic flattening | obsolete Flat midface HPO2016_07_04:Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. [HPO:orcid.org/0000-0001-5889-4463, HPO:probinson, pmid:19125436] HPO2016_07_04:HP:0000272|HPO2016_07_04:HP:0040199|OMIM2016_04_17:MTHU001150|OMIM2016_04_17:MTHU004635|OMIM2016_04_17:MTHU008121|OMIM2016_04_17:MTHU013901 C0015459 Face injury FACE INJURY | Face Injury | Face injury | Facial Injuries | Facial Injuries [Disease/Finding] | Facial Injury | Facial injury | Injuries, Facial | Injury of face | Injury of face (disorder) | Injury of face NOS | Injury, Facial | face injuries | face injury | face; wound | facial injuries | facial injury | injuries facial | injury facial | injury of face | injury of face (diagnosis) | wound of face | wound of face (physical finding) | wound; face MSH2017_2016_08_12:General or unspecified injuries to the soft tissue or bony portions of the face. ICD10CM_2017:S09.93|MSH2017_2016_08_12:D005151|SNOMEDCT_US_2016_09_01:125593007 C2987195 Pancreatic intraductal papillary mucinous neoplasm, pancreatobiliary-type Pancreatic Intraductal Papillary Mucinous Neoplasm, Pancreatobiliary-Type NCI2016_02D:A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form thin-branching papillae and exhibit high grade dysplasia. C0018467 Habituation, psychophysiologic Habituation (Psychophysiology) | Habituation, Psychophysiologic | Habituation, Psychophysiological | Habituations (Psychophysiology) | Psychophysiologic Habituation | Psychophysiological Habituation MSH2017_2016_08_12:The disappearance of responsiveness to a repeated stimulation. It does not include drug habituation. MSH2017_2016_08_12:D006185 C1336434 Paranasal sinus cancer stage iv Paranasal Sinus Cancer Stage IV | Stage IV Accessory Sinus Carcinoma | Stage IV Carcinoma of Accessory Sinus | Stage IV Carcinoma of Paranasal Sinus | Stage IV Carcinoma of the Accessory Sinus | Stage IV Carcinoma of the Paranasal Sinus | Stage IV Paranasal Sinus Cancer | Stage IV Paranasal Sinus Cancer AJCC v7 | Stage IV Paranasal Sinus Carcinoma NCI2016_02D:Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (T4b, Any N, M0); (Any T, N3, M0); IVC: (Any T, Any N, M1). T4a: Maxillary sinus: Moderately advanced local disease. Tumor invades anterior orbital contents, skin of cheek, pterygoid plates, infratemporal fossa, cribriform plate, sphenoid or frontal sinuses. Ethmoid sinus: Moderately advanced local disease. Tumor invades any of the following: anterior orbital contents, skin of nose or cheek, minimal extension to anterior cranial fossa, pterygoid plates, sphenoid or frontal sinuses. T4b: Very advanced local disease. Tumor invades any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than maxillary division of trigeminal nerve, nasopharynx, or clivus. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.) C1836651 Arterial tortuosity, generalized Arterial tortuosity, generalized | Generalized arterial tortuosity | Generalized twisted arteries HPO2016_07_04:Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. [HPO:probinson] HPO2016_07_04:HP:0004955|OMIM2016_04_17:MTHU001163 C0021841 Intestinal neoplasms INTESTINAL TUMOR | Intestinal Neoplasm | Intestinal Neoplasms | Intestinal Neoplasms [Disease/Finding] | Intestinal Tumor | Intestinal Tumors | Intestines Neoplasm | Intestines Neoplasms | Neoplasm of Intestines | Neoplasm of intestinal tract | Neoplasm of intestinal tract (disorder) | Neoplasm of intestine | Neoplasm of the Intestines | Neoplasm, Intestinal | Neoplasm, Intestines | Neoplasms, Intestinal | Neoplasms, Intestines | Tumor of Intestines | Tumor of intestine | Tumor of the Intestines | Tumour of intestine | growth intestines | intestinal neoplasm | intestinal neoplasms | intestinal tumor | intestinal tumors | intestine growth | intestine neoplasm | intestine tumor | intestine tumors | intestines tumor CSP2006:new abnormal intestinal tissue, small and large intestines, that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease. | MSH2017_2016_08_12:Tumors or cancer of the INTESTINES. | NCI2016_02D:A benign or malignant neoplasm involving the small or large intestine. MSH2017_2016_08_12:D007414|SNOMEDCT_US_2016_09_01:126769007 C2931762 Acrofacial dysostosis, catania type ACROFACIAL DYSOSTOSIS, CATANIA TYPE | AFD, CATANIA TYPE | Acrofacial Dysostosis, Catania Type | Acrofacial dysostosis Catania form | Opitz Mollica Sorge syndrome | acrofacial dysostosis (ACD), Catania type | acrofacial dysostosis, Catania type JABL99:Mandibulofacial dysostosis with pre and/or postaxial limb abnormalities and mental retardation. Additional abnormalities include growth retardation and short stature, microcephaly, widow's peak, short hands, simian creases, interdigital webbing, hypospadias, cryptorchidism, inguinal hernia, and spina bifida. The first cases were observed at the University of Catania, hence its designation "Catania type." MSH2017_2016_08_12:C538182|OMIM2016_04_17:101805 C0015407 Eye infection viral Eye Infection, Viral | Eye Infections, Viral | Eye Infections, Viral [Disease/Finding] | Eye infection viral | Eye infection viral NOS | Infection, Viral Eye | Infection, Viral Ocular | Infections, Viral Eye | Infections, Viral Ocular | Ocular Infection, Viral | Ocular Infections, Viral | Viral Eye Infection | Viral Eye Infections | Viral Ocular Infection | Viral Ocular Infections | Viral eye infection | Viral eye infection (disorder) | Viral eye infection NOS | Viral infection of eye | Viral infection of eye (disorder) | Viral ophthalmic infection | eye infection viral | eye infections viral | eye viral infection | eye viral infections | viral eye infection | viral eye infections MSH2017_2016_08_12:Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus. MSH2017_2016_08_12:D015828|SNOMEDCT_US_2016_09_01:129130008|SNOMEDCT_US_2016_09_01:312132001 C0004161 Athletic injuries Athletic Injuries | Athletic Injuries [Disease/Finding] | Athletic Injury | Injuries, Athletic | Injuries, Sports | Injury, Athletic | Injury, Sports | Injury;sports | Sports Injuries | Sports Injury | Sports injuries | Sports injury | Sports injury (morphologic abnormality) | Sports injury, NOS | athletic injuries | athletic injury | athletics injuries | athletics injury | sports injuries | sports injury CSP2006:any injury that arises during participation in sports; most are not actually specific to sports. | MEDLINEPLUS_20151021:Exercising is good for you, but sometimes you can injure yourself when you play sports or exercise. Accidents, poor training practices, or improper gear can cause them. Some people get hurt because they are not in shape. Not warming up or stretching enough can also lead to injuries.
The most common sports injuries are
If you get hurt, stop playing. Continuing to play or exercise can cause more harm. Treatment often begins with the RICE (Rest, Ice, Compression, and Elevation) method to relieve pain, reduce swelling, and speed healing. Other possible treatments include pain relievers, keeping the injured area from moving, rehabilitation, and sometimes surgery.
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
| MSH2017_2016_08_12:Injuries incurred during participation in competitive or non-competitive sports. | NCI2016_02D:An injury sustained while practicing or competing in a sport. MSH2017_2016_08_12:D001265|SNOMEDCT_US_2016_09_01:23294000|SNOMEDCT_US_2016_09_01:269775002 C2077203 Recurrent laryngeal nerve injuries Recurrent Laryngeal Nerve Injuries | Recurrent Laryngeal Nerve Injuries [Disease/Finding] | Recurrent Laryngeal Nerve Injury | Recurrent Laryngeal Nerve Trauma | Recurrent Laryngeal Neuropathy, Traumatic | injury of recurrent laryngeal nerve | injury of recurrent laryngeal nerve (diagnosis) MSH2017_2016_08_12:Traumatic injuries to the RECURRENT LARYNGEAL NERVE that may result in vocal cord dysfunction. | NCI2016_02D:Damage to the recurrent laryngeal nerve. MSH2017_2016_08_12:D061226 C0342282 Symphalangism-brachydactyly syndrome DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN | Deafness-symphalangism syndrome of Herrmann | FACIOAUDIOSYMPHALANGISM SYNDROME | Facioaudiosymphalangism syndrome | Herrmann's syndrome | MULTIPLE SYNOSTOSES SYNDROME 1 | Multiple synostoses syndrome 1 | SYMPHALANGISM-BRACHYDACTYLY SYNDROME | SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY | SYNS1 | Symphalangism-brachydactyly syndrome | Symphalangism-brachydactyly syndrome (disorder) | Synostoses, multiple, with brachydactyly | WL SYNDROME MSH2017_2016_08_12:C536943|OMIM2016_04_17:186500|OMIM2016_04_17:602991|SNOMEDCT_US_2016_09_01:129580008 C1321575 Rolandic march Rolandic march | Simple partial seizure with focal motor signs with march | Simple partial seizure with focal motor signs with march (disorder) | Simple partial seizure with focal motor signs with march (finding) SNOMEDCT_US_2016_09_01:246529004 C0033906 Psychological theories Psychologic Theories | Psychologic Theory | Psychological Theories | Psychological Theory | Theories, Psychologic | Theories, Psychological | Theory, Psychologic | Theory, Psychological | psychological theories | psychological theory MSH2017_2016_08_12:Principles applied to the analysis and explanation of psychological or behavioral phenomena. MSH2017_2016_08_12:D011582 C1304359 Angio-oedema due to disorder of c1 esterase inhibitor Angio-oedema due to disorder of C1 esterase inhibitor | Angioedema due to disorder of C1 esterase inhibitor | Angioedema due to disorder of C1 esterase inhibitor (disorder) SNOMEDCT_US_2016_09_01:402602000 C0456487 Peutz jeghers polyp Peutz Jeghers Polyp | Peutz Jehgers polyp | Peutz Jehgers polyp (morphologic abnormality) | Peutz-Jeghers Polyp NCI2016_02D:A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002 SNOMEDCT_US_2016_09_01:277161008 C4025250 Abnormality of the sacrum Abnormality of the sacrum HPO2016_07_04:An abnormality of the sacral bone. [HPO:probinson] HPO2016_07_04:HP:0005107 C0473311 Hemorrhagic cyst of ovary Haemorrhage into ovarian cyst | Haemorrhagic cyst of ovary | Haemorrhagic ovarian cyst | Hemorrhage into ovarian cyst | Hemorrhagic cyst of ovary | Hemorrhagic cyst of ovary (disorder) | Hemorrhagic ovarian cyst | cysts hemorrhagic ovarian | cysts hemorrhagic ovary | hemorrhage ovarian cyst | hemorrhagic cyst ovary | hemorrhagic ovarian cyst | hemorrhagic ovary cyst | ovary; cyst, hemorrhagic HPO2016_07_04:An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst. [HPO:probinson, pmid:12928726] HPO2016_07_04:HP:0012886|SNOMEDCT_US_2016_09_01:119420007 C1842112 Autoimmune disease, susceptibility to, 3 AIS3 | AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 8-RELATED | AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3 | VAMAS4 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 4 OMIM2016_04_17:608392 C1333147 Congenital t-cell immunodeficiency Congenital T-Cell Immunodeficiency NCI2016_02D:A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. C0149756 Plantar fasciitis FASCITIS PLANTAR | Fasciitis plantar | Fasciitis, Plantar | Fasciitis, Plantar [Disease/Finding] | Fasciitis;plantar | Fascitis plantar | Heel, Policeman's | Heels, Policeman's | PLANTAR FASCIITIS | Plantar Fasciitis | Plantar fasciitis | Plantar fasciitis (disorder) | Policeman Heel | Policeman's Heel | Policeman's Heels | Policeman's heel | Policemans Heel | fasciitis; plantar | plantar fasciitis | plantar fasciitis (diagnosis) | plantar; fasciitis | policeman's heel CHV2011_02:an inflammation of the plantar fascia, the tissue along the bottom of your foot that connects the heel bone to the toes | MSH2017_2016_08_12:Inflammation of the plantar fascia (aponeurosis) on the bottom of the foot causing heel pain. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with HEEL SPUR, they do not appear to be causally related. ICD10CM_2017:M72.2|MSH2017_2016_08_12:D036981|SNOMEDCT_US_2016_09_01:156725003|SNOMEDCT_US_2016_09_01:202882003|SNOMEDCT_US_2016_09_01:203056001|SNOMEDCT_US_2016_09_01:2482001 C1335149 Breast extraskeletal osteosarcoma Breast Extraskeletal Osteosarcoma | Breast Osteosarcoma | Osteogenic Breast Sarcoma | Osteogenic Sarcoma of Breast | Osteogenic Sarcoma of the Breast | Osteosarcoma of Breast | Osteosarcoma of the Breast NCI2016_02D:An osteosarcoma arising from the breast tissue. C1968748 Gangliosidosis, generalized gm1, type i, with cardiac involvement GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT | GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT | Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement | Gm1 Gangliosidosis, Type I, with Cardiac Involvement MSH2017_2016_08_12:C566895|OMIM2016_04_17:230500|OMIM2016_04_17:611458 C2931465 Goldstein hutt syndrome Goldstein Hutt syndrome | Long eyelashes, cataract, and hereditary spherocytosis | Trichomegaly, cataract, and hereditary spherocytosis MSH2017_2016_08_12:C537282 C1846170 Mental retardation, x-linked, syndromic 7 AHMAD X-LINKED MENTAL RETARDATION SYNDROME | Ahmad X-linked Mental retardation syndrome | MENTAL RETARDATION, X-LINKED, SYNDROMIC 7 | MRXS7 | Mental Retardation, X-Linked, Syndromic 7 | Mental retardation X-linked syndromic 7 | Mrxs7 MSH2017_2016_08_12:C537449|OMIM2016_04_17:300218 C2608087 Neuronopathy, distal hereditary motor, type iib DHMN2B | HMN IIB | HMN2B | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB | NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB | Neuronopathy, Distal Hereditary Motor, Type IIB | Neuropathy, Distal Hereditary Motor, Type IIB MSH2017_2016_08_12:C567084|OMIM2016_04_17:602195|OMIM2016_04_17:608634 C0549118 H-h-e syndrome H-H-E syndrome | Hemiconvulsion-hemiplegia-epilepsy syndrome | Hemiplegia-hemiconvulsion-epilepsy syndrome | Hemiplegia-hemiconvulsion-epilepsy syndrome (disorder) SNOMEDCT_US_2016_09_01:230407006|SNOMEDCT_US_2016_09_01:75036009 C0004052 Aspiration of vomitus Aspiration of gastric contents | Aspiration of vomitus | Aspiration, gastric contents | Aspiration, vomitus | Inhalation of gastric contents | Inhalation of gastric contents as an external cause of morbidity and mortality | Pulmonary aspiration of gastric contents | Pulmonary aspiration of gastric contents (finding) | Respiratory Aspiration of Gastric Contents | Respiratory Aspiration of Gastric Contents [Disease/Finding] | [X]Inhalation of gastric contents | aspiration of vomitus | aspiration vomitus | aspiration; gastric contents | gastric content aspiration | inhalation; vomitus | vomitus; inhalation MSH2017_2016_08_12:Inhaling refluxed gastric or duodenal contents. MSH2017_2016_08_12:D063466|SNOMEDCT_US_2016_09_01:30227006 C3275452 Protruding upper lip Protruding upper lip HPO2016_07_04:HP:0010803|OMIM2016_04_17:MTHU032813 C1840418 Thickened cortex of long bones Broad cortex of long bones | Cortical thickening of the long bones | Thickened cortex of long bones | Thickened cortices of long bones HPO2016_07_04:Abnormal thickening of the cortex of long bones. [HPO:curators] HPO2016_07_04:HP:0000935|OMIM2016_04_17:MTHU002961|OMIM2016_04_17:MTHU005921|OMIM2016_04_17:MTHU009562|OMIM2016_04_17:MTHU017794 C0343231 Wrist ganglion cyst Ganglion cyst of wrist | Ganglion of wrist | Ganglion of wrist (disorder) | Ganglion, unspecified wrist | Ganglion, wrist | WRIST GANGLION CYST | cyst ganglion wrist | cysts ganglion wrist | cysts ganglions wrist | ganglion cyst wrist | ganglion of wrist | ganglion of wrist (diagnosis) | ganglion wrist | ganglions wrist | wrist ganglion | wrist ganglion cyst ICD10CM_2017:M67.43|ICD10CM_2017:M67.439|SNOMEDCT_US_2016_09_01:202942009 C0398776 Hereditary c1 esterase inhibitor deficiency - dysfunctional factor C1 esterase inhibitor deficiency - type 2 | Hereditary C1 esterase inactivity | Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | Hereditary C1 esterase inhibitor deficiency - dysfunctional factor (disorder) | Hereditary angio-edema - type 2 | Hereditary angio-oedema - type 2 | Hereditary angioedema - type 2 | Hereditary angioneurotic edema - type 2 | Hereditary angioneurotic oedema - type 2 | c1 inhibitor deficiency - dysfunctional factor | hereditary C1 inhibitor deficiency - dysfunctional factor | hereditary C1 inhibitor deficiency - dysfunctional factor (diagnosis) SNOMEDCT_US_2016_09_01:234620006 C1849211 Generalized hirsutism Generalized hirsutism | Hirsutism, generalized HPO2016_07_04:Abnormally increased hair growth over much of the entire body. [HPO:curators] HPO2016_07_04:HP:0002230|OMIM2016_04_17:MTHU009456|OMIM2016_04_17:MTHU032834 C3489787 Pituitary hormone deficiency, combined, 3 CPHD3 | DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM | Deafness, Sensorineural, With Pituitary Dwarfism | PITUITARY HORMONE DEFICIENCY, COMBINED, 3 | PITUITARY HORMONE DEFICIENCY, COMBINED, WITH RIGID CERVICAL SPINE | Pituitary Hormone Deficiency, Combined, 3 | Pituitary Hormone Deficiency, Combined, With Rigid Cervical Spine | Sensorineural deafness with Pituitary dwarfism | Winkelman Bethge Pfeiffer syndrome MSH2017_2016_08_12:C536710|OMIM2016_04_17:221750|OMIM2016_04_17:600577 C0685199 Neoplasm - soft tissue types blood vessel malignant of pelvis perineum secondary Metastatic malignant neoplasm to blood vessel of perineum | Secondary malignant neoplasm of blood vessel of perineum | Secondary malignant neoplasm of blood vessel of perineum (diagnosis) | Secondary malignant neoplasm of blood vessel of perineum (disorder) | neoplasm - soft tissue types blood vessel malignant of pelvis perineum secondary SNOMEDCT_US_2016_09_01:94203004 C1859372 Calcification of joints and arteries ACDC | ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73 | CALCIFICATION OF JOINTS AND ARTERIES | CALJA | Calcification of Joints and Arteries MSH2017_2016_08_12:C565891|OMIM2016_04_17:129190|OMIM2016_04_17:211800 C4072880 Abnormality of hair consistency Abnormality of hair consistency HPO2016_07_04:HP:0010719 C0150023 Ineffective denial Ineffective denial | Ineffective denial (finding) NANDA-I_2015-2017:Conscious or unconscious attempt to disavow the knowledge or meaning of an event to reduce anxiety and/or fear, leading to the detriment of health. SNOMEDCT_US_2016_09_01:130967001 C0867389 Chronic graft-versus-host disease CGVHD | Chronic GVH disease | Chronic GVHD | Chronic Graft Versus Host Disease | Chronic graft versus host disease | Chronic graft-versus-host disease | Chronic graft-versus-host disease (disorder) | GVHD, chronic | Graft versus host disease, chronic | chronic GVHD | chronic graft-versus-host disease | chronic graft-versus-host disease (diagnosis) NCI2016_02D:A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, and may affect multiple organs with manifestations similar to autoimmune diseases. The onset is usually within three years of transplantation or immunologic manipulation. | NCI2016_NICHD_1602D:A complication of allogeneic bone marrow or blood cell transplantation, usually occurring more than three months after transplantation, in which donor lymphoid cells damage the host tissue. ICD10CM_2017:D89.811|ICD9CM_2014:279.52|SNOMEDCT_US_2016_09_01:402356004 C0238190 Inclusion body myositis (disorder) IBM | IBM - Inclusion body myositis | INCLUSION BODY MYOSITIS | Inclusion Body Myositides | Inclusion Body Myositis | Inclusion Body Myositis (disorder) | Inclusion body myositis | Inclusion body myositis (disorder) | Inclusion body myositis [IBM] | Myositides, Inclusion Body | Myositis, Inclusion Body | Myositis, Inclusion Body [Disease/Finding] | bodies inclusion myositis | body inclusion myositis | inclusion body myositis | inclusion body myositis (diagnosis) | myositis inclusion body MSH2017_2016_08_12:Progressive myopathies characterized by the presence of inclusion bodies on muscle biopsy. Sporadic and hereditary forms have been described. The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. Familial forms usually begin in childhood and lack inflammatory changes. Both forms feature intracytoplasmic and intranuclear inclusions in muscle tissue. (Adams et al., Principles of Neurology, 6th ed, pp1409-10) | NCI2016_02D:An acquired or hereditary chronic inflammatory disorder of the muscles characterized by the morphologic finding of vacuoles and filamentous inclusions in the muscle tissues. | NCI2016_NICHD_1602D:A rare form of progressive muscle disease that is notable for cytoplasmic granules and vacuoles in the muscle with little inflammation, and is usually refractory to treatment. Usually symptoms begin after the age of fifty. ICD10CM_2017:G72.41|ICD9CM_2014:359.71|MSH2017_2016_08_12:D018979|OMIM2016_04_17:147421|SNOMEDCT_US_2016_09_01:72315009 C4019167 Speech sound disorders Disorder, Phonological | Disorder, Speech Sound | Disorders, Phonological | Disorders, Speech Sound | Phonological Disorder | Phonological Disorders | SPEECH-SOUND DISORDER | SSD | Sound Disorder, Speech | Sound Disorders, Speech | Speech Sound Disorder | Speech Sound Disorder [Disease/Finding] | Speech Sound Disorders | Speech sound disorder MSH2017_2016_08_12:Persistent difficulty with speech sound production such that it interferes with verbal communication. MSH2017_2016_08_12:D066229|OMIM2016_04_17:608445 C3202971 Non-infective endocarditis Endocarditides, Marantic | Endocarditides, Non-Infective | Endocarditis, Marantic | Endocarditis, Non Infective | Endocarditis, Non-Infective | Marantic Endocarditides | Marantic Endocarditis | Non Infective Endocarditis | Non-Infective Endocarditides | Non-Infective Endocarditis MSH2017_2016_08_12:Formation of a non-infectious THROMBUS, referred to as vegetation, on previously undamaged ENDOCARDIUM. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see THROMBOPHILIA). MSH2017_2016_08_12:D059905 C1833518 Carnitine palmitoyltransferase ii deficiency, lethal neonatal CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL | CPT II DEFICIENCY, LETHAL NEONATAL | CPT II Deficiency, Lethal Neonatal | CPT2 DEFICIENCY, LETHAL NEONATAL | CPT2 Deficiency, Lethal Neonatal | Carnitine Palmitoyltransferase II Deficiency, Antenatal | Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal | Carnitine Palmitoyltransferase II Deficiency, Neonatal MSH2017_2016_08_12:C563463|OMIM2016_04_17:600650|OMIM2016_04_17:608836 C0040715 Chromosomal translocation CHROMOSOMAL TRANSLOCATIONS | CHROMOSOME TRANSLOCATION | Chromosomal Translocation | Chromosomal Translocation Process | Chromosomal Translocations | Chromosomal translocation | Chromosomal translocation (morphologic abnormality) | Chromosomal translocation, NOS | Chromosome Translocation | Genetic Translocation | Genetic Translocations | Translocation | Translocation (Chromosome) | Translocation (Genetics) | Translocation, Chromosomal | Translocation, Genetic | Translocation, Genetic [Disease/Finding] | Translocations | Translocations, Chromosomal | Translocations, Genetic | chromosomal translocation | chromosomal translocations | chromosome translocation | chromosome translocations | chromosome; translocation | chromosomes translocation | genetic translocation | genetic translocations | t | translocation | translocation; chromosomes CSP2006:rearrangement in which part of a chromosome is detached by breakage and becomes attached to another chromosome. | MSH2017_2016_08_12:A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. | NCI2016_02D:A genetic exchange where a piece of one chromosome is transfered to another chromosome. | NCI2016_02D:Any type of genetic recombination involving exchange of DNA between non-homologous chromosomes, which often occurs as the result of non-homologous end-joining of broken DNA strands. Chromosomal translocation is involved in repairing broken DNA and in maintaining cell viability at the expense of long term genomic stability. This process is is associated with particular types of leukemia, infertility and Down Syndrome. | NCI2016_NCI-GLOSS_1602D:A genetic change in which a piece of one chromosome breaks off and attaches to another chromosome. Sometimes pieces from two different chromosomes will trade places with each other. Translocations may lead to medical problems such as leukemia, breast cancer, schizophrenia, muscular dystrophy, and Down syndrome. MSH2017_2016_08_12:D014178|SNOMEDCT_US_2016_09_01:15897004 C1844846 Punctate calcifications of carpals Punctate calcifications of carpals | Stippled calcification in carpal bones HPO2016_07_04:Point-shaped (punctate) calcifications affecting the carpal bones. [HPO:curators] HPO2016_07_04:HP:0004241|OMIM2016_04_17:MTHU007976 C0153364 Gingival cancer CA - Cancer of gum | Cancer of gum | GINGIVAL CANCER | Gingival cancer | Malignant Gingival Neoplasm | Malignant Gingival Tumor | Malignant Gum Neoplasm | Malignant Gum Tumor | Malignant Neoplasm of Gingiva | Malignant Neoplasm of Gum | Malignant Neoplasm of the Gingiva | Malignant Neoplasm of the Gum | Malignant Tumor of Gingiva | Malignant Tumor of Gum | Malignant Tumor of the Gingiva | Malignant Tumor of the Gum | Malignant gum neoplasm | Malignant neoplasm of gum | Malignant neoplasm of gum NOS | Malignant neoplasm of gum NOS (disorder) | Malignant neoplasm of gum, NOS | Malignant neoplasm of gum, unspecified | Malignant tumor of alveolar mucosa | Malignant tumor of gingiva | Malignant tumor of gum | Malignant tumor of gum (disorder) | Malignant tumour of alveolar mucosa | Malignant tumour of gingiva | Malignant tumour of gum | cancer gum | cancer gums | cancer of gum | gingival cancer | gum cancer | malignant gum neoplasm | malignant neoplasm of gingiva | malignant neoplasm of gingiva (diagnosis) | malignant tumor of gingiva | of gum cancer NCI2016_02D:A primary or metastatic malignant neoplasm that affects the gums. ICD10CM_2017:C03|ICD10CM_2017:C03.9|ICD9CM_2014:143|ICD9CM_2014:143.9|SNOMEDCT_US_2016_09_01:187651005|SNOMEDCT_US_2016_09_01:363382005|SNOMEDCT_US_2016_09_01:93819009 C0266009 Congenital absence of breast Absent breast | Breast aplasia | Congenital absence of breast | Congenital absence of breast (disorder) | Mammary gland aplasia | absence; breast(s), congenital | absent breast | breast(s); absence, congenital | congenital absence of breast | congenital absence of breast (diagnosis) HPO2016_07_04:Failure to develop and congenital absence of the breast. [] HPO2016_07_04:HP:0100783|OMIM2016_04_17:MTHU007392|SNOMEDCT_US_2016_09_01:111324004 C1849263 Sclerotic scapulae Sclerotic scapulae HPO2016_07_04:Increased density of the bony tissue of the scapula. [HPO:probinson] HPO2016_07_04:HP:0001474|OMIM2016_04_17:MTHU009515 C2750467 Cardiomyopathy, familial hypertrophic, 14 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 | CMH14 | Cardiomyopathy, Familial Hypertrophic, 14 MSH2017_2016_08_12:C567684|OMIM2016_04_17:160710|OMIM2016_04_17:613251 C3495589 Jalili syndrome Amelogenesis imperfecta co-occurrent with cone rod dystrophy | Amelogenesis imperfecta co-occurrent with cone rod dystrophy (disorder) | CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA | Cone-Rod Dystrophy And Amelogenesis Imperfecta | JALILI SYNDROME | Jalili syndrome MSH2017_2016_08_12:C000596385|OMIM2016_04_17:217080|OMIM2016_04_17:607805|SNOMEDCT_US_2016_09_01:707608003 C1869117 Paroxysmal nonkinesigenic dyskinesia CHOREOATHETOSIS, FAMILIAL PAROXYSMAL | CHOREOATHETOSIS, NONKINESIGENIC | Choreoathetosis familial paroxysmal | Choreoathetosis, Familial Paroxysmal | Choreoathetosis, Nonkinesigenic | DYSTONIA 8 | DYT8 | Dystonia 8 | FPD1 | Familial Paroxysmal Nonkinesigenic Dyskinesia | Familial paroxysmal choreoathetosis | MOUNT-REBACK SYNDROME | Mount-Reback syndrome | Nonkinesigenic choreoathetosis | PAROXYSMAL DYSTONIC CHOREOATHETOSIS | PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 | PDC | PNKD1 | Paroxysmal Nonkinesigenic Dyskinesia 1 | Paroxysmal choreo-athetosis | Paroxysmal choreoathetosis | Paroxysmal dystonic choreoathetosis | Paroxysmal kinesigenic choreoathetosis | Paroxysmal nonkinesigenic dyskinesia | Paroxysmal nonkinesigenic dyskinesia (disorder) | mount reback syndrome | mount-reback syndrome | paroxysmal choreoathetosis MSH2017_2016_08_12:C537181|OMIM2016_04_17:118800|OMIM2016_04_17:609023|OMIM2016_04_17:MTHU000808|SNOMEDCT_US_2016_09_01:49949003|SNOMEDCT_US_2016_09_01:609218006 C1261109 Alcoholic cerebellar ataxia Alcohol-induced cerebellar ataxia | Alcohol-induced cerebellar ataxia (disorder) | Alcoholic cerebellar ataxia | Cerebellar ataxia due to alcoholism | Cerebellar ataxia due to alcoholism (disorder) | ataxia; cerebellar, alcoholic | ataxia; cerebellar, in alcoholism | cerebellar; ataxia, alcoholic | cerebellar; ataxia, in alcoholism ICD10CM_2017:G31.2|SNOMEDCT_US_2016_09_01:300992002|SNOMEDCT_US_2016_09_01:361272001 C4025676 Abnormality of the knee Abnormality of the knee HPO2016_07_04:An abnormality of the knee joint or surrounding structures. [HPO:probinson] HPO2016_07_04:HP:0002815 C0413398 Accidental decapitation Accidental decapitation | Accidental decapitation NOS | Accidental decapitation NOS (morphologic abnormality) | Decapitation | Decapitation (disorder) | Traumatic amputation at neck level | Traumatic amputation of head | Traumatic amputation of head (disorder) | accidental decapitation | amputation; traumatic, head, decapitation (at neck level) | traumatic amputation head | traumatic amputation head (diagnosis) | traumatic; amputation, head, decapitation (at neck level) SNOMEDCT_US_2016_09_01:110014005|SNOMEDCT_US_2016_09_01:210400004|SNOMEDCT_US_2016_09_01:218236000 C4025608 Defective dehydrogenation of isovaleryl coa and butyryl coa Defective dehydrogenation of isovaleryl CoA and butyryl CoA HPO2016_07_04:HP:0003490 C1844505 Pointed chin Pointed chin | Pointed mention region | Pointy chin | Small pointed chin | Witch's chin | chin witch's chin | witch's chin | witch's chin (physical finding) HPO2016_07_04:A marked tapering of the lower face to the chin. [pmid:19125436] HPO2016_07_04:HP:0000307|OMIM2016_04_17:MTHU002674|OMIM2016_04_17:MTHU007614 C0346170 Benign ovarian serous cystadenoma Benign Ovarian Serous Cystadenoma | Benign Serous Cystadenoma of Ovary | Benign Serous Cystadenoma of the Ovary | Ovarian Serous Cystadenoma | Ovarian serous cystadenoma | Serous Cystadenoma of Ovary | Serous Cystadenoma of the Ovary | Serous cystadenoma of ovary | Serous cystadenoma of ovary (disorder) | serous cystadenoma of ovary | serous cystadenoma of ovary (diagnosis) HPO2016_07_04:A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue. [HPO:probinson, PMID:23766763] | NCI2016_02D:A benign, usually bilateral neoplasm of the ovary characterized by the presence of cystic structures that contain watery fluid and are lined by serous epithelial cells. Signs and symptoms include abdominal enlargement, pain, and vaginal bleeding. HPO2016_07_04:HP:0012887|SNOMEDCT_US_2016_09_01:119421006 C4022148 Abnormality of the dentate nucleus Abnormality of the dentate nucleus HPO2016_07_04:An abnormality of the dentate nucleus. [HPO:probinson] HPO2016_07_04:HP:0100321 C0035441 Rheumatic nodule Nodule, Rheumatic | Nodules, Rheumatic | Rheumatic Nodule | Rheumatic Nodule [Disease/Finding] | Rheumatic Nodules | Rheumatic nodule | rheumatic nodule | rheumatic nodules MSH2017_2016_08_12:A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed) MSH2017_2016_08_12:D012215|SNOMEDCT_US_2016_09_01:89050001 C0856141 Dry eyes aggravated Dry eyes aggravated C0546878 Salaam spasms Nodding Spasm | Nodding Spasms | Nodding spasm | Salaam spasm | Salaam spasm (finding) | Salaam's tic | Spasm, Nodding | Spasms, Nodding | Spasmus nutans | nodding; spasm | salaam spasms | salaam; spasm | salaam; tic | spasm; nodding | spasm; salaam | spasmus nutans | tic; salaam HPO2016_07_04:The combination of pendular nystagmus, head nodding, and torticollis. [HPO:probinson, pmid:7499100] HPO2016_07_04:HP:0010533|MSH2017_2016_08_12:D013036|SNOMEDCT_US_2016_09_01:18191000|SNOMEDCT_US_2016_09_01:246553005 C1334275 Infiltrating cribriform breast carcinoma Infiltrating Cribriform Breast Carcinoma | Infiltrating Cribriform Carcinoma of Breast | Infiltrating Cribriform Carcinoma of the Breast | Infiltrating Cribriform Ductal Carcinoma of Breast | Invasive Cribriform Breast Carcinoma | Invasive Cribriform Carcinoma of Breast | Invasive Cribriform Carcinoma of the Breast | Invasive Cribriform Ductal Carcinoma of Breast NCI2016_02D:An invasive adenocarcinoma of the breast with a favorable clinical outcome, characterized by the presence of a sieve-like or cribriform infiltrating pattern. C0267014 Papillary hyperplasia of palate Palatal papillomatosis | Papillary hyperplasia of palate | Papillary hyperplasia of palate (disorder) | papillary hyperplasia of palate | papillary hyperplasia of palate (diagnosis) SNOMEDCT_US_2016_09_01:41349008 C2957420 Military operational stress reaction military operational stress reaction | military operational stress reaction (diagnosis) C0018482 Haemophilus infections HAEMOPHILUS INFECTIONS | Haemophilus Infection | Haemophilus Infections | Haemophilus Infections [Disease/Finding] | Haemophilus infection | Haemophilus infection (disorder) | Haemophilus infection NOS | Haemophilus infection, NOS | Haemophilus infections | Hemophilus Infection | Hemophilus Infections | Hemophilus diseases | Hemophilus infection | Hemophilus infection NOS | Hemophilus infections | Hib | Infection, Haemophilus | Infection, Hemophilus | Infections, Haemophilus | Infections, Hemophilus | haemophilus infection | haemophilus infections | hemophilus infection MEDLINEPLUS_20151021:Haemophilus is the name of a group of bacteria. There are several types of Haemophilus. They can cause different types of illnesses involving breathing, bones and joints, and the nervous system.
One common type, Hib (Haemophilus influenzae type b), causes serious disease. It usually strikes children under 5 years old. Your child can get Hib disease by being around other children or adults who may have the bacteria and not know it. The germs spread from person to person. If the germs stay in the child's nose and throat, the child probably will not get sick. But sometimes the germs spread into the lungs or the bloodstream, and then Hib can cause serious problems such as meningitis and pneumonia.
There is a vaccine to prevent Hib disease. All children younger than 5 years of age should be vaccinated with the Hib vaccine.
Centers for Disease Control and Prevention
| MSH2017_2016_08_12:Infections with bacteria of the genus HAEMOPHILUS. MSH2017_2016_08_12:D006192|SNOMEDCT_US_2016_09_01:41659003 C0399373 Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism Amelogenesis imperfecta - hypomaturation - autosomal dominant - hypoplastic with taurodontism | Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism | Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism (disorder) SNOMEDCT_US_2016_09_01:109472008 C1333308 Carcinoma of distal biliary tract Carcinoma of Distal Biliary Tract | Carcinoma of the Distal Biliary Tract | Distal Bile Duct Carcinoma | Distal Biliary Tract Carcinoma NCI2016_02D:A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct. C4024886 Areas of hypopigmentation and hyperpigmentation that do not follow blaschko lines Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines HPO2016_07_04:HP:0007402 C0280336 Inverting papilloma of nasal cavity Inverting Papilloma of Nasal Cavity | Inverting Papilloma of the Nasal Cavity | Inverting papilloma of the nasal cavity | Nasal Cavity Inverted Papilloma | Nasal Cavity Schneiderian Papilloma, Inverted Type NCI2016_02D:A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas. C4025740 Autoamputation of foot Autoamputation of foot HPO2016_07_04:Spontaneous detachment of a foot from the body. [HPO:probinson] HPO2016_07_04:HP:0001868 C0341024 Familial chronic mucocutaneous candidiasis CANDF4 | CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS | CANDIDIASIS, FAMILIAL, 4 | FCMC - Familial chronic mucocutaneous candidiasis | FCMC - Familial chronic mucocutaneous candidosis | Familial chronic mucocutaneous candidiasis | Familial chronic mucocutaneous candidiasis (disorder) | Familial chronic mucocutaneous candidosis OMIM2016_04_17:606264|OMIM2016_04_17:613108|SNOMEDCT_US_2016_09_01:235073000 C0270210 Lucey-driscoll syndrome (disorder) HBLRTFN | HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL | Hyperbilirubinemia, Transient Familial Neonatal | Hyperbilirubinemia, neonatal, familial, transient | LUCEY-DRISCOLL SYNDROME | Lucey-Driscoll syndrome | Lucey-Driscoll syndrome (disorder) | Transient familial neonatal hyperbilirubinaemia | Transient familial neonatal hyperbilirubinemia | Transient familial neonatal hyperbilirubinemia (disorder) MSH2017_2016_08_12:C562692|OMIM2016_04_17:191740|OMIM2016_04_17:237900|SNOMEDCT_US_2016_09_01:111470007|SNOMEDCT_US_2016_09_01:31482007|SNOMEDCT_US_2016_09_01:47444008 C0155118 Corneal degeneration Corneal Degeneration | Corneal degeneration | Corneal degeneration (disorder) | Corneal degeneration unspecif. | Corneal degeneration, NOS | Corneal degeneration, unspecified | Corneal degenerations | Corneal degenerations NOS | Corneal degenerations NOS (disorder) | Unspecified corneal degeneration | Unspecified corneal degeneration (disorder) | cornea; degeneration | corneal degeneration | corneal degeneration (diagnosis) | corneal degeneration (physical finding) | corneal degenerations | degeneration; cornea HPO2016_07_04:HP:0007705|ICD10CM_2017:H18.4|ICD10CM_2017:H18.40|ICD9CM_2014:371.4|ICD9CM_2014:371.40|SNOMEDCT_US_2016_09_01:111521006|SNOMEDCT_US_2016_09_01:193824006|SNOMEDCT_US_2016_09_01:193830006 C4020747 Biopsy shows villous atrophy Biopsy shows villous atrophy HPO2016_07_04:HP:0011473 C4024842 Generalized bronze hyperpigmentation Generalized bronze hyperpigmentation HPO2016_07_04:HP:0007574 C0018794 Heart block BLOCK HEART | Block - heart | Block heart | Block, Heart | Block;heart | Blocks, Heart | Conduction block | HB - Heart block | HEART BLOCK | HEART BLOCK (NOS) | HEART BLOCKS | Heart Block | Heart Block [Disease/Finding] | Heart Blocks | Heart block | Heart block (NOS) | Heart block (disorder) | Heart block (disorder) [Ambiguous] | Heart block NOS | Heart block NOS (disorder) | Heart block, NOS | block heart | block; cardiac | block; conduction | block; heart | block; myocardial | blockage heart | blockages heart | blocked heart | blocks heart | cardiac; block | conduction; block | heart block | heart block (diagnosis) | heart blockage | heart blocks | heart; block | myocardial; block CSP2006:impairment of conduction in heart excitation; often applied specifically to atrioventricular heart block. | HPO2016_07_04:Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. [HPO:probinson] | MSH2017_2016_08_12:Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the SINOATRIAL NODE and the right atrium (SA block) or between atria and ventricles (AV block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects. HPO2016_07_04:HP:0012722|ICD10CM_2017:I45.9|MSH2017_2016_08_12:D006327|OMIM2016_04_17:MTHU016896|OMIM2016_04_17:MTHU036394|SNOMEDCT_US_2016_09_01:155354000|SNOMEDCT_US_2016_09_01:155359005|SNOMEDCT_US_2016_09_01:195038000|SNOMEDCT_US_2016_09_01:233916004|SNOMEDCT_US_2016_09_01:266302004|SNOMEDCT_US_2016_09_01:266303009|SNOMEDCT_US_2016_09_01:58547007 C1835390 Increased intraabdominal fat Increased intraabdominal fat HPO2016_07_04:An abnormal increase in the amount of intraabdominal fat tissue. [HPO:curators] HPO2016_07_04:HP:0008993|OMIM2016_04_17:MTHU017407 C1859678 Mental deterioration in childhood Mental deterioration in childhood HPO2016_07_04:HP:0002376|OMIM2016_04_17:MTHU014361 C4040796 Status epilepticus due to intractable idiopathic generalised epilepsy Status epilepticus due to intractable idiopathic generalised epilepsy | Status epilepticus due to intractable idiopathic generalized epilepsy | Status epilepticus due to intractable idiopathic generalized epilepsy (disorder) | Status epilepticus due to refractory idiopathic generalised epilepsy | Status epilepticus due to refractory idiopathic generalized epilepsy SNOMEDCT_US_2016_09_01:290711000119101 C4025077 Slender metacarpals Slender long bones of hand | Slender metacarpals HPO2016_07_04:Decreased width of the metacarpal bones (that is, reduced diameter). [HPO:probinson] HPO2016_07_04:HP:0006236 C1835923 Retinitis pigmentosa 31 RETINITIS PIGMENTOSA 31 | RP31 | Retinitis Pigmentosa 31 MSH2017_2016_08_12:C563685|OMIM2016_04_17:609507|OMIM2016_04_17:609923 C0025323 Menorrhagia Abnormally heaving bleeding during menstruation | BLEEDING MENSTRUAL HEAVY | Bleeding menstrual heavy | EXCESSIVE MENSES | Excessive menstruation | Flooding during periods | HYPERMENORRHEA | Heavy menstrual period | Heavy menstrual period (finding) | Heavy period | Heavy periods | Heavy periods NOS | Hypermenorrhea | Hypermenorrhea (finding) | Hypermenorrhea -RETIRED- | Hypermenorrhoea | Hypermenorrhoea -RETIRED- | MENORRHAGIA | MENSES REGULAR WITH EXCESSIVE BLEEDING | MENSTRUAL FLOW EXCESSIVE | Menorrhagia | Menorrhagia (finding) | Menorrhagia NOS | Menorrhagia [Disease/Finding] | Menses regular with excessive bleeding | Menstrual flow excessive | Menstruation excessive | Menstruation increased | Menstruation;excessive | Profuse menstrual flow | Prolonged heavy periods | excessive bleeding during period | excessive bleeding during period (symptom) | excessive menstrual bleeding | excessive menstrual flow | excessive menstruation | excessive; menstruation | heavy menstrual bleeding | heavy menstrual period | heavy menstrual periods | heavy period | heavy periods | heavy prolonged periods | heavy; menstruation | hypermenorrhea | hypermenorrhoea | menorrhagia | menorrhagia (diagnosis) | menstruation; excessive | menstruation; heavy HPO2016_07_04:Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. [HPO:probinson, pmid:22594864] | MSH2017_2016_08_12:Excessive uterine bleeding during MENSTRUATION. | NCI2016_02D:Heavy bleeding during regular menstruation. | NCI2016_CTCAE_1602D:A disorder characterized by abnormally heavy vaginal bleeding during menses. | NCI2016_NCI-GLOSS_1602D:Abnormally heavy menstrual bleeding. | NCI2016_NICHD_1602D:Abnormally heavy bleeding during menstruation. HPO2016_07_04:HP:0000132|ICD10CM_2017:N92.0|MSH2017_2016_08_12:D008595|OMIM2016_04_17:MTHU009110|SNOMEDCT_US_2016_09_01:123348000|SNOMEDCT_US_2016_09_01:156038002|SNOMEDCT_US_2016_09_01:198418008|SNOMEDCT_US_2016_09_01:289888001|SNOMEDCT_US_2016_09_01:386692008|SNOMEDCT_US_2016_09_01:63515003 C0020507 Hyperplasia Cellular proliferation | HYPERPLASIA | HYPERPLASIAS | HYPERPLASIAS: GENERAL TERMS | Hypercellular | Hypercellularity | Hyperplasia | Hyperplasia (morphologic abnormality) | Hyperplasia NOS | Hyperplasia [Disease/Finding] | Hyperplasia, NOS | Hyperplasias | Hyperplastic | Proliferation, cellular | abnormal enlargement of an organ or a tissue | cellular proliferation | hypercellularity | hyperplasia | hyperplasias CSP2006:abnormal multiplication of otherwise normal cells, leading to tissue enlargement. | MSH2017_2016_08_12:An increase in the number of cells in a tissue or organ without tumor formation. It differs from HYPERTROPHY, which is an increase in bulk without an increase in the number of cells. | NCI2016_02D:An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. | NCI2016_CDISC_1602D:Increase in the number of resident cells per unit area in an organ or tissue. | NCI2016_NCI-GLOSS_1602D:An abnormal increase in the number of cells in an organ or tissue. MSH2017_2016_08_12:D006965|OMIM2016_04_17:MTHU043799|SNOMEDCT_US_2016_09_01:76197007 C1832593 Alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPIC HYPOGONADISM | Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism MSH2017_2016_08_12:C563370|OMIM2016_04_17:601217 C0036830 Serum sickness Intoxication by serum | Protein sickness | SERUM SICKNESS | Serum Sickness | Serum Sickness [Disease/Finding] | Serum Sicknesses | Serum rash | Serum rash (disorder) | Serum reaction | Serum sickness | Serum sickness (disorder) | Serum urticaria | Sickness, Serum | Sicknesses, Serum | Transfusion reaction due to serum protein reaction | Transfusion reaction due to serum protein reaction (disorder) | Transfusion reaction due to serum protein reaction, NOS | Urticaria caused by serum | Urticaria caused by serum (disorder) | Urticaria due to serum | Urticaria due to serum (disorder) | intoxication; serum | protein sickness | protein sickness (diagnosis) | protein; sickness | rash; serum | reaction; serum | serum intoxication | serum intoxication (diagnosis) | serum rash | serum rash (diagnosis) | serum reaction | serum reaction (diagnosis) | serum sickness | serum sickness (diagnosis) | serum; intoxication | serum; rash | serum; reaction | serum; urticaria | urticaria due to serum | urticaria due to serum (diagnosis) | urticaria; serum CSP2006:immune complex disease caused by the administration of foreign serum or serum proteins and characterized by fever, lymphadenopathy, arthralgia, and urticaria; when they are complexed to protein carriers, some drugs can also cause serum sickness when they act as haptens inducing antibody responses. | MSH2017_2016_08_12:Immune complex disease caused by the administration of foreign serum or serum proteins and characterized by fever, lymphadenopathy, arthralgia, and urticaria. When they are complexed to protein carriers, some drugs can also cause serum sickness when they act as haptens inducing antibody responses. | NCI2016_02D:Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction. | NCI2016_CTCAE_1602D:A disorder characterized by a delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty-one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest marked discomfort and dyspnea. | NCI2016_NICHD_1602D:A systemic, immune complex mediated hypersensitivity reaction to injected foreign or autologous protein that usually presents four to ten days after exposure and resolves on its own. Manifestations may include fever, joint pain, rash, and swollen lymph nodes. ICD10CM_2017:T80.6|MSH2017_2016_08_12:D012713|SNOMEDCT_US_2016_09_01:213322006|SNOMEDCT_US_2016_09_01:213323001|SNOMEDCT_US_2016_09_01:213324007|SNOMEDCT_US_2016_09_01:213325008|SNOMEDCT_US_2016_09_01:72284000 C1863655 Deafness, autosomal recessive 21 DEAFNESS, AUTOSOMAL RECESSIVE 21 | DFNB21 | Deafness, Autosomal Recessive 21 MSH2017_2016_08_12:C566353|OMIM2016_04_17:603629 C0042783 Visceral prolapse Prolapse, Visceral | Splanchnoptosis | Visceral Prolapse | Visceral Prolapse [Disease/Finding] | Visceroptosis | Visceroptosis (disorder) | splanchnoptosis | visceral prolapse | visceroptosis | visceroptosis (diagnosis) MSH2017_2016_08_12:The prolapse or downward displacement of the VISCERA. MSH2017_2016_08_12:D014782|SNOMEDCT_US_2016_09_01:197258005|SNOMEDCT_US_2016_09_01:73004004 C0155179 Xeroderma of eyelid Ichthyosis of eyelid | Xeroderma of eyelid | Xeroderma of eyelid (disorder) | xeroderma of eyelid | xeroderma of eyelid (diagnosis) ICD10CM_2017:H01.14|ICD9CM_2014:373.33|SNOMEDCT_US_2016_09_01:55846006 C2713368 Hematopoetic myelodysplasia Hematopoetic Myelodysplasia | Hematopoetic Myelodysplasias | Myelodysplasia, Hematopoetic | Myelodysplasias, Hematopoetic MSH2017_2016_08_12:D009190 C1865614 Hemochromatosis, type 2a HEMOCHROMATOSIS, TYPE 2A | HFE2A | Hemochromatosis, Type 2A MSH2017_2016_08_12:C537247|OMIM2016_04_17:602390|OMIM2016_04_17:608374 C0019693 Hiv infections DISEASES DUE TO IMMUNODEFICIENCY VIRUS | HIV | HIV - Human immunodeficiency virus infection | HIV DISEASE | HIV INFECTION | HIV Infection | HIV Infections | HIV Infections [Disease/Finding] | HIV disease | HIV disease; disease (i.e. caused by HIV disease) | HIV disease; infection | HIV infection | HIV infection NOS | HIV infections | HIV seropositivity or positivity | HTLV III Infections | HTLV III LAV Infections | HTLV-III Infection | HTLV-III Infections | HTLV-III-LAV Infection | HTLV-III-LAV Infections | HTLV-III/LAV infection | HTLV-III/LAV infection (disorder) | HTLV-III/LAV infection -RETIRED- | HTLV-III/LAV infection, NOS | HUMAN IMMUNODEFICIENCY VIRUS [HIV] INFECTION | Human Immunodeficiency Virus | Human immunodeficiency virus [HIV] disease | Human immunodeficiency virus [HIV] disease (B20) | Human immunodeficiency virus disease | Human immunodeficiency virus infection | Human immunodeficiency virus infection (disorder) | Human immunodeficiency virus infection, NOS | Human immunodeficiency virus infection, unspecified | Human immunodeficiency virus syndrome | Infection, HIV | Infection, HTLV-III | Infection, HTLV-III-LAV | Infection;HIV | Infections, HIV | Infections, HTLV-III | Infections, HTLV-III-LAV | T Lymphotropic Virus Type III Infections, Human | T-Lymphotropic Virus Type III Infections, Human | Unspecified HIV disease | Unspecified human immunodeficiency virus [HIV] disease | [X]HIV disease | [X]Human immunodeficiency virus disease | [X]Human immunodeficiency virus disease (disorder) | [X]Unspecified HIV disease | [X]Unspecified human immunodeficiency virus [HIV] disease | [X]Unspecified human immunodeficiency virus [HIV] disease (disorder) | disease (or disorder); HIV disease (resulting from HIV disease) | disease (or disorder); resulting from HIV disease | hiv infection | human T-lymphotropic virus 3 (HTLV-III) infection | human T-lymphotropic virus 3 (HTLV-III) infection (diagnosis) | human immunodeficiency virus (HIV) infection | human immunodeficiency virus (HIV) infection (diagnosis) | human immunodeficiency virus infection | human immunodeficiency virus; disease | immunodeficiency virus disease; human | infection; HIV disease as cause | lymphadenopathy-associated virus | lymphadenopathy-associated virus (diagnosis) CSP2006:any state of infection accompanied by evidence of HIV in the body (positive test for HIV genome, cDNA, proteins, antigens, or antibodies); may be medically asymptomatic or symptomatic; use AIDS when appropriate. | MSH2017_2016_08_12:Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS). | NCI2016_02D:An infection caused by the human immunodeficiency virus. | NCI2016_NICHD_1602D:Infection caused by the human immunodeficiency virus. ICD10CM_2017:B20|ICD10CM_2017:B20-B20|ICD9CM_2014:042|ICD9CM_2014:042-042.99|MSH2017_2016_08_12:D015658|SNOMEDCT_US_2016_09_01:123321001|SNOMEDCT_US_2016_09_01:186705005|SNOMEDCT_US_2016_09_01:187438009|SNOMEDCT_US_2016_09_01:187453001|SNOMEDCT_US_2016_09_01:86406008 C3272484 Ampulla of vater somatostatin producing net Ampulla of Vater Somatostatin Producing NET | Ampulla of Vater Somatostatin Producing Neuroendocrine Tumor | Ampulla of Vater Somatostatin-Producing Neuroendocrine Tumor | Somatostatin Producing Neuroendocrine Tumor of the Ampullary Region NCI2016_02D:A well differentiated neuroendocrine tumor that arises from the ampulla of Vater and the periampullary region. It produces somatostatin. C1332976 Childhood leptomeningeal melanoma Childhood Leptomeningeal Melanoma | Pediatric Leptomeningeal Melanoma NCI2016_02D:A melanoma that arises from leptomeningeal melanocytes and occurs in childhood. C0029134 Optic neuritis CRANIAL NERVE II OPTIC NEURITIS | NEURITIS OPTIC | Neuritides, Optic | Neuritis optic | Neuritis, Optic | Neuritis;optic | ON - Optic neuritis | OPTIC NEURITIS | Optic Neuritides | Optic Neuritis | Optic Neuritis [Disease/Finding] | Optic nerve inflamed | Optic nerve inflammation | Optic neuritis | Optic neuritis (disorder) | Optic neuritis NOS | Optic neuritis NOS (disorder) | Optic neuritis [dup] (disorder) | Optic neuritis, NOS | Optic neuritis, unspecified | Unspecified optic neuritis | Unspecified optic neuritis (disorder) | inflammation; nerve, optic | inflammation; optic nerve | n.opticus; inflammation | neuritis optic | neuritis; optic | optic nerve; inflammation | optic neuritis | optic neuritis (diagnosis) | optic; neuritis AIR93:WHAT: Optic neuritis. Optic Neuritis: the inflammation, degeneration, or demyelination of the optic nerve. WHY: Optic neuritis may be present in patients with sarcoidosis or Reiter's syndrome (rarely). HOW: Clinically, patients with optic neuritis present with sudden loss of central vision and pain on moving the eye. Opthalmoscopically there may be hyperemia of the optic disc and distention of the large retinal veins. At later stages the disk margins are blurred and may be slightly elevated simulating papilledema. REFS: Vaugn, D and Asbury, T: General Ophthamology, 8th edition, 1977. | CSP2006:inflammation of the second cranial nerve or optic nerve; commonly associated conditions include autoimmune disorders such as multiple sclerosis, infections, and granulomatous diseases. | HPO2016_07_04:Inflammation of the optic nerve. [HPO:sdoelken] | MSH2017_2016_08_12:Inflammation of the optic nerve. Commonly associated conditions include autoimmune disorders such as MULTIPLE SCLEROSIS, infections, and granulomatous diseases. Clinical features include retro-orbital pain that is aggravated by eye movement, loss of color vision, and contrast sensitivity that may progress to severe visual loss, an afferent pupillary defect (Marcus-Gunn pupil), and in some instances optic disc hyperemia and swelling. Inflammation may occur in the portion of the nerve within the globe (neuropapillitis or anterior optic neuritis) or the portion behind the globe (retrobulbar neuritis or posterior optic neuritis). | NCI2016_02D:A disorder characterized by inflammation of the optic nerve. Causes include autoimmune disorders, infections, toxins, drugs, and multiple sclerosis. It may manifest with acute loss of vision and pain. | NCI2016_NICHD_1602D:Inflammation of the optic nerve. HPO2016_07_04:HP:0100653|ICD10CM_2017:H46|ICD10CM_2017:H46.9|ICD9CM_2014:377.3|ICD9CM_2014:377.30|MSH2017_2016_08_12:D009902|SNOMEDCT_US_2016_09_01:155189007|SNOMEDCT_US_2016_09_01:194051001|SNOMEDCT_US_2016_09_01:194052008|SNOMEDCT_US_2016_09_01:194054009|SNOMEDCT_US_2016_09_01:267743006|SNOMEDCT_US_2016_09_01:66760008 C0266877 Perimolysis Perimolysis | Perimylolysis | Perimylolysis (disorder) SNOMEDCT_US_2016_09_01:51323005 C3890733 Polyarticular juvenile idiopathic arthritis, rheumatoid factor positive Polyarticular JIA, RF+ | Polyarticular Juvenile Idiopathic Arthritis, RF+ | Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Positive | polyarticular juvenile idiopathic arthritis RF positive | polyarticular juvenile idiopathic arthritis with positive rheumatoid factor | polyarticular juvenile idiopathic arthritis with positive rheumatoid factor (diagnosis) NCI2016_02D:A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor. | NCI2016_NICHD_1602D:A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor. C3151066 Retinitis pigmentosa 45 RETINITIS PIGMENTOSA 45 | RP45 OMIM2016_04_17:600724|OMIM2016_04_17:613767 C0398745 Neutrophil secondary granule deficiency Neutrophil secondary granule deficiency | Neutrophil secondary granule deficiency (disorder) | neutrophil secondary granule deficiency (diagnosis) SNOMEDCT_US_2016_09_01:234588005 C4225199 Muscular dystrophy, limb-girdle, type 2x LGMD2X | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X OMIM2016_04_17:616812 C0018036 Hypertension, goldblatt Goldblatt Hypertension | Goldblatt Syndrome | Goldblatt hypertension | Goldblatt hypertension (diagnosis) | Goldblatt hypertension (disorder) | Goldblatt; hypertension | Hypertension, Goldblatt | Syndrome, Goldblatt | hypertension; Goldblatt | secondary hypertension goldblatt MSH2017_2016_08_12:HYPERTENSION due to renal ISCHEMIA. In 1934, Harry Goldblatt described that hypertension can be produced experimentally by using a clamp to obstruct blood flow to one kidney, the Goldblatt phenomenon. MSH2017_2016_08_12:D006978|SNOMEDCT_US_2016_09_01:123800009 C0426494 Wasting of tongue Lingual wasting | Wasting of the tongue | Wasting of tongue | Wasting of tongue (finding) HPO2016_07_04:HP:0012473|SNOMEDCT_US_2016_09_01:249382006 C0024692 Mandible fracture Fracture of lower jaw | Fracture of mandible | Fracture of mandible (disorder) | Fracture of mandible, unspecified | Fracture, Mandibular | Fracture;mandible | Fractured mandible | Fractures, Mandibular | MANDIBLE FRACTURE | Mandible Fracture | Mandibular Fracture | Mandibular Fractures | Mandibular Fractures [Disease/Finding] | Mandibular fracture | fracture mandible | fracture mandibular | fracture of mandible | fracture of mandible (diagnosis) | fracture of mandible / lower jaw | fracture; mandible | fractured mandible | fractures mandible | fractures mandibular | lower jaw fracture | mandible fracture | mandible; fracture | mandibular fracture | mandibular fractures | of mandible fracture MSH2017_2016_08_12:Fractures of the lower jaw. ICD10CM_2017:S02.6|ICD10CM_2017:S02.60|ICD10CM_2017:S02.609|MSH2017_2016_08_12:D008337|SNOMEDCT_US_2016_09_01:157178001|SNOMEDCT_US_2016_09_01:207789006|SNOMEDCT_US_2016_09_01:263172003 C1857352 Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY | Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy | Facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation MSH2017_2016_08_12:C535985|OMIM2016_04_17:220219 C0282607 Vascular neoplasms Neoplasm of Vascular Tissue | Neoplasm, Vascular | Neoplasms, Vascular | Tumor of Vascular Tissue | Tumors, Vascular | Vascular Neoplasm | Vascular Neoplasms | Vascular Neoplasms [Disease/Finding] | Vascular Tissue Neoplasm | Vascular Tissue Tumor | Vascular Tumor | Vascular Tumors | Vascular neoplasm | Vascular neoplasms | Vascular tumor, NOS | neoplasms vascular | vascular neoplasms HPO2016_07_04:A benign or malignant neoplasm (tumour) originating in the vascular system. [HPO:probinson] | MSH2017_2016_08_12:Neoplasms located in the vasculature system, such as ARTERIES and VEINS. They are differentiated from neoplasms of vascular tissue (NEOPLASMS, VASCULAR TISSUE), such as ANGIOFIBROMA or HEMANGIOMA. | NCI2016_02D:A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. HPO2016_07_04:HP:0100742|MSH2017_2016_08_12:D019043 C0520557 Arteriovenous malformation of liver Arteriovenous Malformation of Liver | Arteriovenous malformation of liver | Arteriovenous malformation of liver (disorder) | Hepatic Arteriovenous Malformation | Hepatic arteriovenous malformation | Liver arteriovenous malformation | hepatic arteriovenous malformation | hepatic arteriovenous malformation (diagnosis) NCI2016_02D:An abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the liver. HPO2016_07_04:HP:0006574|OMIM2016_04_17:MTHU006468|OMIM2016_04_17:MTHU015338|SNOMEDCT_US_2016_09_01:84150000 C1708604 Keratocystic odontogenic tumor Keratocystic Odontogenic Tumor | Keratocystic odontogenic tumor | Keratocysts of the jaw | Odontogenic Keratocyst | Odontogenic keratocysts of jaws | Odontogenic keratocysts of the jaw HPO2016_07_04:A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. [HPO:curators, pmid:18353202] | NCI2016_02D:An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence. HPO2016_07_04:HP:0010603|OMIM2016_04_17:MTHU019336 C0043048 Experimental water deprivation Deprivation, Water | Deprivations, Water | Experimental Water Deprivation | Water Deprivation | Water Deprivations MSH2017_2016_08_12:The withholding of water in a structured experimental situation. | MSHNOR2016:Tilbakehalding av vatn under kontrollerte, eksperimentelle situasjonar. | PSY2004:Absence of ad libitum water access. In experimental settings, water deprivation is used to achieve a definable level of motivation within the organism. MSH2017_2016_08_12:D014868 C1836942 Cataract, age-related cortical, 1 ARCC1 | CATARACT 28 | CATARACT, AGE-RELATED CORTICAL, 1 | CTRCT28 | Cataract, Age-Related Cortical, 1 MSH2017_2016_08_12:C563812|OMIM2016_04_17:609026 C0029417 Osteoblastoma Benign osteoblastoma | FIBROMA, OSTEOGENIC, OF BONE | Giant Osteoid Osteoma | Giant Osteoid Osteomas | Giant osteoid osteoma | OSTEOBLASTOMA, BENIGN | OSTEOID OSTEOMA, GIANT | Ossifying Giant Cell Tumor | Osteoblastoma | Osteoblastoma (morphologic abnormality) | Osteoblastoma NOS | Osteoblastoma [Disease/Finding] | Osteoblastoma, NOS | Osteoblastomas | Osteoid Osteoma, Giant | Osteoid Osteomas, Giant | Osteoma, Giant Osteoid | Osteomas, Giant Osteoid | [M]Osteoblastoma | osteoblastoma HPO2016_07_04:A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue. [HPO:probinson] | MSH2017_2016_08_12:A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue. It occurs frequently in the spine of young persons. (From Dorland, 27th ed; Stedman, 25th ed) | NCI2016_02D:A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent. | NCI2016_CDISC_1602D:A benign neoplasm of bone, characterized by the formation of osteoid tissue and large osteoblast-like cells. HPO2016_07_04:HP:0011846|MSH2017_2016_08_12:D018215|SNOMEDCT_US_2016_09_01:55333008 C1859565 Bardet-biedl syndrome 7 BARDET-BIEDL SYNDROME 7 | BBS7 | Bardet-Biedl Syndrome 7 MSH2017_2016_08_12:C565916|OMIM2016_04_17:607590|OMIM2016_04_17:615984 C4025288 Hypersegmentation of neutrophil nuclei Hypersegmentation of neutrophil nuclei HPO2016_07_04:An excessive division of the lobes of the nucleus of a neutrophil. [HPO:probinson] HPO2016_07_04:HP:0004821 C0153484 Supraglottic cancer malignant Ca larynx - supraglottis | Ca larynx - supraglottis (disorder) | Malig neop supraglottis | Malig tumor supraglottis | Malig tumour supraglottis | Malignant Neoplasm of Supraglottis | Malignant Neoplasm of the Supraglottis | Malignant Supraglottic Neoplasm | Malignant Supraglottic Tumor | Malignant Supraglottis Neoplasm | Malignant Supraglottis Tumor | Malignant Tumor of Supraglottis | Malignant Tumor of the Supraglottis | Malignant neoplasm of extrinsic larynx | Malignant neoplasm of supraglottis | Malignant tumor of supraglottis | Malignant tumor of supraglottis (disorder) | Malignant tumour of supraglottis | SUPRAGLOTTIC CANCER MALIGNANT | malignant neoplasm of supraglottis | malignant neoplasm of supraglottis (diagnosis) | malignant supraglottal neoplasm | malignant tumor of supraglottis NCI2016_02D:A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas. ICD10CM_2017:C32.1|ICD9CM_2014:161.1|SNOMEDCT_US_2016_09_01:154482003|SNOMEDCT_US_2016_09_01:187842004|SNOMEDCT_US_2016_09_01:269558005|SNOMEDCT_US_2016_09_01:94080006 C0344297 Choroidal sclerosis CHOROIDAL SCLEROSIS | Choroidal degeneration | Choroidal degeneration (disorder) | Choroidal degeneration unspec. | Choroidal degeneration, NOS | Choroidal degeneration, unspecified | Choroidal degenerations | Choroidal degenerations NOS | Choroidal degenerations NOS (disorder) | Choroidal sclerosis | Choroidal sclerosis (finding) | Choroidal sclerosis NOS | Choroidal sclerosis, NOS | Choroidal vessel sclerosis | Sclerosis of choroid NOS | Unspecified choroidal degeneration | Unspecified choroidal degeneration (disorder) | choroid; degeneration | choroid; sclerosis | choroidal degeneration | choroidal degeneration (diagnosis) | choroidal sclerosis | choroidopathy; degenerative | degeneration; choroid | degenerative; choroidopathy | obsolete Choroidal sclerosis | sclerosis; choroid HPO2016_07_04:Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines. [HPO:probinson, pmid:4694397] HPO2016_07_04:HP:0001150|ICD10CM_2017:H31.1|ICD10CM_2017:H31.10|ICD9CM_2014:363.4|ICD9CM_2014:363.40|MSH2017_2016_08_12:C535358|OMIM2016_04_17:215500|OMIM2016_04_17:303100|OMIM2016_04_17:MTHU006953|OMIM2016_04_17:MTHU048841|SNOMEDCT_US_2016_09_01:193461008|SNOMEDCT_US_2016_09_01:193464000|SNOMEDCT_US_2016_09_01:247199007|SNOMEDCT_US_2016_09_01:267617003|SNOMEDCT_US_2016_09_01:406446000|SNOMEDCT_US_2016_09_01:47638000 C0012118 Infection by dictyocaulus, nos Dictyocauliases | Dictyocauliasis | Dictyocaulosis | Dictyocaulus Infection | Dictyocaulus Infections | Dictyocaulus Infections [Disease/Finding] | Infection by Dictyocaulus | Infection by Dictyocaulus (disorder) | Infection by Dictyocaulus, NOS | Infection caused by Dictyocaulus | Infection caused by Dictyocaulus (disorder) | Infection, Dictyocaulus | Infections, Dictyocaulus MSH2017_2016_08_12:Infection with nematodes of the genus DICTYOCAULUS. In deer, cattle, sheep, and horses the bronchi are the site of infestation. MSH2017_2016_08_12:D004022|SNOMEDCT_US_2016_09_01:28713008 C4041132 Phantom pain following amputation of penis Phantom pain following amputation of penis | Phantom pain following amputation of penis (disorder) SNOMEDCT_US_2016_09_01:711056007 C0809980 Other hematologic conditions Other hematologic conditions C0751549 Neurogenic thoracic outlet syndrome Neurogenic Thoracic Outlet Syndrome | Neurogenic thoracic outlet syndrome | Neurogenic thoracic outlet syndrome (disorder) | Thoracic Outlet Syndrome, Neurogenic MSH2017_2016_08_12:D013901|SNOMEDCT_US_2016_09_01:2040007 C3698191 Generalised non-convulsive absence epilepsy Generalised non-convulsive absence epilepsy | Generalized non-convulsive absence epilepsy | Generalized non-convulsive absence epilepsy (disorder) SNOMEDCT_US_2016_09_01:698760002 C0156318 Fibrosis breast Breast Fibrosclerosis | Breast Fibrosis | Breast fibrosis | FIBROSIS BREAST | FIBROSIS, BREAST | Fibrosclerosis of Breast | Fibrosclerosis of breast | Fibrosclerosis of breast (disorder) | Fibrosclerosis of the Breast | Fibrosis breast | Fibrosis of Breast | Fibrosis of the Breast | breast fibrosclerosis | breast fibrosis | breast; fibrosclerosis | breast; fibrosis | breasts fibrosis | fibrosclerosis of breast | fibrosclerosis of breast (diagnosis) | fibrosclerosis; breast | fibrosis breast | fibrosis; breast NCI2016_02D:Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma. ICD10CM_2017:N60.3|ICD9CM_2014:610.3|SNOMEDCT_US_2016_09_01:29070004 C0270124 Fetal distress, in liveborn infant Fetal distress, NOS, in liveborn infant | Fetal distress, in liveborn infant | Fetal distress, in liveborn infant (disorder) | Fetal distress, in liveborn infant (finding) | Fetal distress, unspecified as to time of onset, in liveborn infant | Fetal intrauterine distress, not clear if noted before OR after onset of labor in liveborn infant | Fetal intrauterine distress, not clear if noted before OR after onset of labour in liveborn infant | Fetal intrauterine distress, not clear if noted before or after onset of labor in liveborn infant | Foetal distress, NOS, in liveborn infant | Foetal distress, in liveborn infant | Foetal distress, unspecified as to time of onset, in liveborn infant | Foetal intrauterine distress, not clear if noted before OR after onset of labour in liveborn infant | Foetal intrauterine distress, not clear if noted before or after onset of labour in liveborn infant ICD9CM_2014:768.4|SNOMEDCT_US_2016_09_01:90562004 C1512750 Infiltrating renal pelvis and ureter transitional cell carcinoma Infiltrating Renal Pelvis and Ureter Transitional Cell Carcinoma | Infiltrating Renal Pelvis and Ureter Urothelial Carcinoma C0162323 Polyarthritis ARTHRITIS, MULTIPLE JOINT INVOLVEMENT | Inflamm.polyarthropathy NOS | Inflammatory arthritis of multiple joints | Inflammatory polyarthropathies | Inflammatory polyarthropathies (M05-M14) | Inflammatory polyarthropathy | Inflammatory polyarthropathy (disorder) | Inflammatory polyarthropathy NOS | Inflammatory polyarthropathy NOS (disorder) | Inflammatory polyarthropathy or polyarthritis NOS | Inflammatory polyarthropathy, NOS | Inflammatory polyarthropathy, site unspecified | Inflamtry polyarthropathies | POLYARTHRITIS | Polyarthritides | Polyarthritis | Polyarthritis (disorder) | Polyarthritis NOS | Polyarthritis, NOS | Polyarthritis, unspecified | Polyarthropathy NOS -inflammat | Polyarticular Arthritis | Polyarticular arthritis | Unspecified inflammatory polyarthropathy | [X]Inflammatory polyarthropathies | [X]Inflammatory polyarthropathies (disorder) | [X]Inflamtry polyarthropathies | inflammatory polyarthropathy | polyarthritides | polyarthritis | polyarthritis (diagnosis) | polyarthropathy inflammatory | polyarticular arthritis CSP2006:inflammation of several joints together. | NCI2016_02D:An arthritis affecting five or more separate joints. | NCI2016_NICHD_1602D:An arthritis affecting five or more separate joints. HPO2016_07_04:HP:0005764|ICD10CM_2017:M05-M14|ICD10CM_2017:M06.4|ICD10CM_2017:M13.0|ICD9CM_2014:714.9|MSH2017_2016_08_12:D001168|OMIM2016_04_17:MTHU041276|OMIM2016_04_17:MTHU041499|SNOMEDCT_US_2016_09_01:156514009|SNOMEDCT_US_2016_09_01:201763001|SNOMEDCT_US_2016_09_01:201817003|SNOMEDCT_US_2016_09_01:202032009|SNOMEDCT_US_2016_09_01:203728000|SNOMEDCT_US_2016_09_01:268053003|SNOMEDCT_US_2016_09_01:268056006|SNOMEDCT_US_2016_09_01:30701005|SNOMEDCT_US_2016_09_01:41397009|SNOMEDCT_US_2016_09_01:416956002|SNOMEDCT_US_2016_09_01:417373000 C1510479 Neuralgic amyotrophy Amyotrophic Neuralgia | Amyotrophic Neuralgias | Amyotrophies, Neuralgic | Amyotrophy, Neuralgic | Neuralgia, Amyotrophic | Neuralgias, Amyotrophic | Neuralgic Amyotrophies | Neuralgic Amyotrophy | Neuralgic amyotrophy | Neuralgic amyotrophy (disorder) | amyotrophy; neuralgic | neuralgic amyotrophy | neuralgic amyotrophy (diagnosis) | neuralgic; amyotrophy ICD10CM_2017:G54.5|ICD9CM_2014:353.5|MSH2017_2016_08_12:D020968|SNOMEDCT_US_2016_09_01:193113006|SNOMEDCT_US_2016_09_01:26609002|SNOMEDCT_US_2016_09_01:3548001 C1969372 Tubulointerstitial fibrosis Renal interstitial fibrosis | Tubulointerstitial fibrosis HPO2016_07_04:Fibrosis that involves the tubules and interstitial tissue of the kidney. [HPO:probinson, pmid:19144691] HPO2016_07_04:HP:0005576|OMIM2016_04_17:MTHU020990 C3809346 Cardiomyopathy, dilated, 1mm CARDIOMYOPATHY, DILATED, 1MM | CMD1MM OMIM2016_04_17:600958|OMIM2016_04_17:615396 C0848548 Hypertensive nephropathy HNP1 | HYPERTENSIVE NEPHROPATHY | Hypertension;nephropathy | Hypertension;renal disease | Hypertensive Nephropathy | Hypertensive nephropathy | Hypertensive nephropathy, NOS | Hypertensive renal disease | Hypertensive renal disease (disorder) | Hypertensive renal disease NOS | Hypertensive renal disease NOS (disorder) | Hypertensive renal disease, NOS | Hypertensive renal disease, unspecified | NEPHROPATHY HYPERTENSIVE | Nephropathy hypertensive | hypertension renal disease | hypertension secondary to renal disease | hypertensive kidney disease | hypertensive kidney disease (diagnosis) | hypertensive nephropathy | hypertensive nephropathy (diagnosis) | hypertensive renal disease | nephropathy hypertension | renal disease hypertension | renal disease; hypertension NCI2016_02D:Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria. ICD10CM_2017:I12.9|ICD9CM_2014:403.9|MSH2017_2016_08_12:C563161|OMIM2016_04_17:608026|SNOMEDCT_US_2016_09_01:194773000|SNOMEDCT_US_2016_09_01:194775007|SNOMEDCT_US_2016_09_01:266230002|SNOMEDCT_US_2016_09_01:38481006 C1850600 Leigh syndrome due to mitochondrial complex v deficiency LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX V DEFICIENCY | Leigh Syndrome due to Mitochondrial Complex V Deficiency MSH2017_2016_08_12:C564964|OMIM2016_04_17:256000 C1845050 Pigmentary disorder, reticulate, with systemic manifestations AMYLOIDOSIS, FAMILIAL CUTANEOUS | Amyloidosis, Familial Cutaneous | PDR | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS | Pigmentary Disorder, Reticulate, with Systemic Manifestations MSH2017_2016_08_12:C564461|OMIM2016_04_17:301220 C0153655 Malignant neoplasm of pineal gland Cancer of pineal gland | Malignant Neoplasm of Pineal Gland | Malignant Neoplasm of the Pineal Gland | Malignant Pineal Area Neoplasm | Malignant Pineal Area Tumor | Malignant Pineal Gland Neoplasm | Malignant Pineal Gland Tumor | Malignant Pineal Region Neoplasm | Malignant Pineal Region Tumor | Malignant Tumor of Pineal Gland | Malignant Tumor of the Pineal Gland | Malignant neoplasm of pineal gland | Malignant pineal neoplasm | Malignant tumor of pineal gland | Malignant tumor of pineal gland (disorder) | Malignant tumour of pineal gland | Pineal cancer | malignant neoplasm of endrocrine glands pineal | malignant neoplasm of pineal gland | malignant neoplasm of pineal gland (diagnosis) NCI2016_02D:Abnormal malignant growth of the cells that comprise the pineal parenchyma. ICD10CM_2017:C75.3|ICD9CM_2014:194.4|SNOMEDCT_US_2016_09_01:363483004|SNOMEDCT_US_2016_09_01:93962006 C0239340 Edema of lower extremity EXTREMITY EDEMA, LOWER | Edema lower limb | Edema of lower extremities | Edema of lower extremity | Edema of lower extremity (finding) | Edema of lower limb | Edema of the lower limbs | Fluid accumulation in lower limbs | Hindlimb edema | LOWER EXTREMITY EDEMA | Oedema lower limb | Oedema of lower extremities | Oedema of lower extremity | Oedema of lower limb | Peripheral edema of lower extremity | edema extremities lower | edema lower extremity | edema of lower extremities | edema of lower extremity | lower extremities edema | lower extremity edema | lower limb edema | lower limb oedema | oedema lower limb | oedema of lower limb HPO2016_07_04:HP:0010741|OMIM2016_04_17:MTHU009839|SNOMEDCT_US_2016_09_01:102572006 C1844818 Lumbar gibbus deformity Lumbar gibbus deformity | Lumbar kyphosis | Rounded lower back | kyphosis lumbar | kyphosis lumbar (diagnosis) HPO2016_07_04:Over curvature of the lumbar region. [HPO:probinson] HPO2016_07_04:HP:0008454|OMIM2016_04_17:MTHU007946 C0263642 Skin vegetations, nos Skin vegetations | Skin vegetations (disorder) | Skin vegetations, NOS SNOMEDCT_US_2016_09_01:63998007 C0026069 Brock syndrome BROCK SYNDROME | Brock | Brock Syndrome | Brock syndrome | Brock's Syndrome | Brock's syndrome | Brocks Syndrome | LUNG, MIDDLE LOBE SYNDROME | Middle Lobe Syndrome | Middle Lobe Syndrome [Disease/Finding] | Middle lobe syndrome | Middle lobe syndrome (disorder) | Syndrome, Brock's | Syndromes, Middle Lobe | brock syndrome | brock's syndrome | brocks syndrome | lobe lungs middle syndrome | lung middle lobe syndrome | middle lobe syndrome | middle lobe; syndrome | syndrome; middle lobe MSH2017_2016_08_12:Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed) MSH2017_2016_08_12:D008878|SNOMEDCT_US_2016_09_01:28295001 C0152234 Iniencephaly nos INIENCEPHALY | Iniencephalies | Iniencephalus | Iniencephaly | Iniencephaly (disorder) | Iniencephaly NOS | Iniencephaly NOS (disorder) | iniencephalus | iniencephaly | iniencephaly (diagnosis) NCI2016_02D:A rare neural tube defect characterized by extreme retroflexion of the head and severe defects of the spine. It is usually associated with other congenital anomalies. | NCI2016_CDISC_1602D:Exposure of occipital brain and upper spinal cord tissue involving extreme retroflection of the head. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) ICD10CM_2017:Q00.2|ICD9CM_2014:740.2|MSH2017_2016_08_12:D009436|SNOMEDCT_US_2016_09_01:156886005|SNOMEDCT_US_2016_09_01:203929000|SNOMEDCT_US_2016_09_01:2438005 C4025018 Depletion of mitochondrial dna in liver Depletion of mitochondrial DNA in liver HPO2016_07_04:An abnormal reduction in the number of mitochondria in hepatocytes. [HPO:probinson] HPO2016_07_04:HP:0006581 C0010267 Cranial nerve neoplasms Cranial Nerve Neoplasm | Cranial Nerve Neoplasms | Cranial Nerve Neoplasms [Disease/Finding] | Cranial Nerve Tumor | Neoplasm of Cranial Nerve | Neoplasm of cranial nerve | Neoplasm of cranial nerve (disorder) | Neoplasm of the Cranial Nerve | Neoplasm, Cranial Nerve | Neoplasms, Cranial Nerve | Tumor of Cranial Nerve | Tumor of cranial nerve | Tumor of the Cranial Nerve | Tumour of cranial nerve | cranial nerve neoplasms | cranial nerves tumors | neoplasm of cranial nerve | neoplasm of cranial nerve (diagnosis) MSH2017_2016_08_12:Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves. | NCI2016_02D:Abnormal growth of the cells that comprise the cranial nerves. MSH2017_2016_08_12:D003390|SNOMEDCT_US_2016_09_01:126966009 C1370890 Inflammatory liposarcoma Inflammatory Liposarcoma | Inflammatory liposarcoma NCI2016_02D:A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates. SNOMEDCT_US_2016_09_01:28655007 C1511203 Bladder tubulo-cystic clear cell adenocarcinoma Bladder Tubulo-Cystic Clear Cell Adenocarcinoma NCI2016_02D:A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern. C2983137 Colon carcinoma metastatic in the lung Colon Carcinoma Metastatic in the Lung | Colon Carcinoma Metastatic to the Lung NCI2016_02D:A carcinoma that originates from the colonic wall and has spread to the lungs. C0040335 Encounter due to tobacco use Encounter due to tobacco use | History of tobacco use | Personal history of tobacco use | Personal history of tobacco use disorder | Tobacco use | Tobacco use NOS | Tobacco use, current | [V]Tobacco use | [V]Tobacco use (context-dependent category) | [V]Tobacco use (situation) | problem; tobacco use | tobacco; use | tobacco; use, problem | use; tobacco ICD10CM_2017:Z72.0|ICD9CM_2014:V15.82|SNOMEDCT_US_2016_09_01:316231000 C4023386 Morphological abnormality of the semicircular canal Morphological abnormality of the semicircular canal HPO2016_07_04:An abnormality of the morphology of the semicircular canal. [DDD:dfitzpatrick] HPO2016_07_04:HP:0011380 C1850318 Omodysplasia type 1 OMOD1 | OMODYSPLASIA 1 | OMODYSPLASIA, AUTOSOMAL RECESSIVE | OMODYSPLASIA, GENERALIZED FORM | Omodysplasia (Maroteaux) | Omodysplasia 1 | Omodysplasia autosomal recessive form | Omodysplasia generalized form | Omodysplasia type 1 | Omodysplasia, Autosomal Recessive | Omodysplasia, Generalized Form MSH2017_2016_08_12:C537746|OMIM2016_04_17:258315|OMIM2016_04_17:604404 C1531608 Smoldering myeloma Asymptomatic (smouldering) myeloma | Asymptomatic (smouldering) myeloma (disorder) | Asymptomatic Myeloma | Asymptomatic Plasma Cell Myeloma | Asymptomatic myeloma | Smoldering Multiple Myeloma | Smoldering Myeloma | Smoldering Plasma Cell Myeloma | Smoldering multiple myeloma | Smoldering myeloma | Smoldering myeloma (diagnosis) | Smoldering myeloma (disorder) | Smouldering multiple myeloma | Smouldering myeloma | malignant neoplasm multiple myeloma smoldering | smoldering myeloma NCI2016_02D:A plasma cell myeloma lacking clinical manifestations and organ impairment. | NCI2016_NCI-GLOSS_1602D:A very slow-growing type of myeloma in which abnormal plasma cells (a type of white blood cell) make too much of a single type of monoclonal antibody (a protein). This protein builds up in the blood or is passed in the urine. Patients with smoldering myeloma usually have no symptoms, but need to be checked often for signs of progression to fully developed multiple myeloma. SNOMEDCT_US_2016_09_01:413587002 C1300202 Diaphyseal medullary stenosis with bone malignancy Diaphyseal medullary stenosis with bone malignancy | Diaphyseal medullary stenosis with bone malignancy (disorder) | diaphyseal medullary stenosis with bone malignancy (diagnosis) SNOMEDCT_US_2016_09_01:389216001 C2931146 Radio renal syndrome Radio renal syndrome | Radio-renal syndrome MSH2017_2016_08_12:C536267 C0220847 C hepatitis virus HCV | HCV - Hepatitis C virus | HEPATITIS C VIRUS | Hepatitis C | Hepatitis C Virus | Hepatitis C virus | Hepatitis C virus (HCV) | Hepatitis C virus (organism) | Hepatitis C viruses | Virus-Hepatitis C | c hepatitis virus | hcv hepatitis c virus | hepatitis C virus | hepatitis C virus (HCV) | hepatitis C virus HCV | hepatitis c virus | hepatitis virus c | human hepatitis C virus | human hepatitis C virus HCV | human hepatitis virus C HCV | post-transfusion hepatitis non A non B virus CSP2006:an RNA virus which has been shown to be the major etiologic agent of non-A non-B hepatitis and causes substantial morbidity and mortality worldwide; also associated with cirrhosis and hepatocellular carcinoma. | MEDLINEPLUS_20151021:Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. One type, hepatitis C, is caused by the hepatitis C virus (HCV). It usually spreads through contact with infected blood. It can also spread through sex with an infected person and from mother to baby during childbirth.
Most people who are infected with hepatitis C don't have any symptoms for years. If you do get symptoms, you may feel as if you have the flu. You may also have jaundice, a yellowing of skin and eyes, dark-colored urine, and pale bowel movements. A blood test can tell if you have it. Usually, hepatitis C does not get better by itself. The infection can last a lifetime and may lead to scarring of the liver or liver cancer. Medicines sometimes help, but side effects can be a problem. Serious cases may need a liver transplant.
There is no vaccine for HCV.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
| MSH2017_2016_08_12:Six clades of the virus exist. But all are considered one species, since serotyping is not yet possible and they do not contain any other taxonomic characteristics except geographic distribution (8th ICTV Report). | NCI2016_02D:A small, enveloped, positive sense single strand RNA virus in the family Flaviviridae. The genome consists of a single RNA molecule with a single open reading frame. | NCI2016_CDISC_1602D:Any viral organism that can be assigned to the species Hepatitis C virus. MSH2017_2016_08_12:D016174|NCBI2016_03_21:11103|SNOMEDCT_US_2016_09_01:62944002 C1332302 Anterior foramen magnum meningioma Anterior Foramen Magnum Meningioma | Meningioma of Anterior Foramen Magnum | Meningioma of the Anterior Foramen Magnum NCI2016_02D:A meningioma that affects the anterior foramen magnum. C0027625 Circulating neoplastic cells CIRCULATING TUMOR CELL | CTC | Cell, Circulating Neoplastic | Cell, Circulating Tumor | Cell, Neoplasm Circulating | Cells, Circulating Neoplastic | Cells, Circulating Tumor | Cells, Neoplasm Circulating | Circulating Cells, Neoplasm | Circulating Neoplastic Cell | Circulating Neoplastic Cells | Circulating Tumor Cell | Circulating Tumor Cells | Circulating tumor cells | Neoplasm Circulating Cell | Neoplasm Circulating Cells | Neoplastic Cell, Circulating | Neoplastic Cells, Circulating | Neoplastic Cells, Circulating [Disease/Finding] | Tumor Cell, Circulating | Tumor Cells, Circulating | circulating neoplastic cell CSP2006:exfoliate neoplastic cells circulating in the blood and associated with metastasizing tumors. | MSH2017_2016_08_12:Exfoliate neoplastic cells circulating in the blood and associated with metastasizing tumors. | NCI2016_02D:A metastatic cancer cell found in the peripheral blood. | NCI2016_CDISC_1602D:A metastatic cancer cell found in the peripheral blood. (NCI) MSH2017_2016_08_12:D009360 C1274789 Ligneous conjunctivitis LIGNEOUS CONJUNCTIVITIS | Ligneous Conjunctivitis | Ligneous conjunctivitis | Ligneous conjunctivitis (disorder) | ligneous conjunctivitis (diagnosis) ICD10CM_2017:H10.51|MSH2017_2016_08_12:C566897|OMIM2016_04_17:217090|OMIM2016_04_17:MTHU023531|SNOMEDCT_US_2016_09_01:403435005 C0221168 Podagra Gout of big toe | PODAGRA | Podagra | Podagra (disorder) | podagra HPO2016_07_04:Gout affecting the Metatarsophalangeal joint of big toe. [HPO:sdoelken] HPO2016_07_04:HP:0001854|ICD10CM_2017:M10|SNOMEDCT_US_2016_09_01:267501002|SNOMEDCT_US_2016_09_01:67148009 C0267518 Colonospasm Colonospasm | Colonospasm (disorder) SNOMEDCT_US_2016_09_01:1045000 C1836607 Myotilinopathy MYOPATHY, MYOFIBRILLAR, MYOTILIN-RELATED | MYOTILINOPATHY | Myopathy, Myofibrillar, Myotilin-Related | Myotilinopathy MSH2017_2016_08_12:C563775|OMIM2016_04_17:609200 C0014057 Japanese encephalitis ENCEPHALITIS, JAPANESE B | ENCEPHALITIS, RUSSIAN AUTUMNAL | ENCEPHALITIS, SUMMER | Encephalitis Japanese B | Encephalitis, Japanese | Encephalitis, Japanese B | Encephalitis, Japanese [Disease/Finding] | JBE - Japanese B encephalitis | JE - Japanese encephalitis | Japanese B Encephalitis | Japanese B Viral Encephalitis | Japanese B encephalitis | Japanese B viral encephalitis | Japanese Encephalitis | Japanese b encephalitis | Japanese encephalitis | Japanese encephalitis (diagnosis) | Japanese encephalitis virus disease | Japanese encephalitis virus disease (disorder) | Japanese; encephalitis | Russian; autumnal encephalitis | Viral Encephalitis, Japanese B | autumnal encephalitis; Russian | autumnal; Russian autumnal encephalitis | encephalitis Japanese | encephalitis; Japanese | encephalitis; Russian, autumnal MSH2017_2016_08_12:A mosquito-borne encephalitis caused by the Japanese B encephalitis virus (ENCEPHALITIS VIRUS, JAPANESE) occurring throughout Eastern Asia and Australia. The majority of infections occur in children and are subclinical or have features limited to transient fever and gastrointestinal symptoms. Inflammation of the brain, spinal cord, and meninges may occur and lead to transient or permanent neurologic deficits (including a POLIOMYELITIS-like presentation); SEIZURES; COMA; and death. (From Adams et al., Principles of Neurology, 6th ed, p751; Lancet 1998 Apr 11;351(9109):1094-7) | NCI2016_02D:Viral encephalitis caused by the mosquito-born Japanese encephalitis virus. Signs and symptoms include an initial period of fever, headaches, and malaise, followed by neck rigidity, hemiparesis, and convulsions. It may lead to coma. ICD10CM_2017:A83.0|ICD9CM_2014:062.0|MSH2017_2016_08_12:D004672|SNOMEDCT_US_2016_09_01:154345006|SNOMEDCT_US_2016_09_01:266194002|SNOMEDCT_US_2016_09_01:52947006 C2749936 Spastic paraplegia 18, autosomal recessive (disorder) IDMDC | INTELLECTUAL DISABILITY, MOTOR DYSFUNCTION, AND JOINT CONTRACTURES | Intellectual Disability, Motor Dysfunction, and Joint Contractures | SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE | SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) | SPG18 | Spastic Paraplegia 18, Autosomal Recessive MSH2017_2016_08_12:C567628|OMIM2016_04_17:611225|OMIM2016_04_17:611605 C1518873 Pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia Pancreatic Intraductal Papillary Mucinous Neoplasm with High Grade Dysplasia | Pancreatic Intraductal Papillary-Mucinous Neoplasm with High Grade Dysplasia | Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma NCI2016_02D:A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present. C2750472 Cardiomyopathy, familial hypertrophic, 13 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 | CMH13 | Cardiomyopathy, Familial Hypertrophic, 13 MSH2017_2016_08_12:C567686|OMIM2016_04_17:191040|OMIM2016_04_17:613243 C1838647 Retinitis pigmentosa 12 (disorder) RETINITIS PIGMENTOSA 12 | RETINITIS PIGMENTOSA 12 (disorder) | RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM | RP WITH OR WITHOUT PPRPE | RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM | RP12 | Retinitis Pigmentosa 12 MSH2017_2016_08_12:C563999|OMIM2016_04_17:600105|OMIM2016_04_17:604210 C1292758 Precursor t-cell lymphoblastic lymphoma Precur. T-lymphoblastic lymphoma | Precursor T Lymphoblastic Lymphoma | Precursor T-Cell Lymphoblastic Lymphoma | Precursor T-Lymphoblastic Lymphoma | Precursor T-cell lymphoblastic lymphoma | Precursor T-cell lymphoblastic lymphoma (disorder) | Precursor T-cell lymphoblastic lymphoma (morphologic abnormality) | Precursor T-lymphoblastic lymphoma | T Lymphoblastic Lymphoma | T-Lymphoblastic Lymphoma | T-lymphoblastic lymphoma | malignant neoplasm precursor t-cell lymphoblastic lymphoma | malignant precursor T-cell lymphoblastic lymphoma | malignant precursor T-cell lymphoblastic lymphoma (diagnosis) | precursor T-lymphoblastic lymphoma NCI2016_02D:The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001) | NCI2016_NCI-GLOSS_1602D:A type of non-Hodgkin lymphoma in which too many T-cell lymphoblasts (immature white blood cells) are found in the lymph nodes and spleen. It is most common in young men. SNOMEDCT_US_2016_09_01:128808004|SNOMEDCT_US_2016_09_01:421246008 C1864648 Chromosome 16p13.3 deletion syndrome, proximal CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL | RSTS DELETION SYNDROME | RUBINSTEIN-TAYBI DELETION SYNDROME OMIM2016_04_17:610543 C0001249 Actinobacillus infections ACTINOBACILLUS INFECTIONS | Actinobacillus Infection | Actinobacillus Infections | Actinobacillus Infections [Disease/Finding] | Actinobacillus infection | Actinobacillus infection (disorder) | Actinobacillus infection, NOS | Actinobacillus; infection | Infection, Actinobacillus | Infections, Actinobacillus | infection; Actinobacillus MSH2017_2016_08_12:Infections with bacteria of the genus ACTINOBACILLUS. MSH2017_2016_08_12:D000189|SNOMEDCT_US_2016_09_01:16140007 C0151650 Renal fibrosis FIBROSIS KIDNEY | Fibrosis kidney | KIDNEY FIBROSIS | Kidney fibrosis | Renal fibrosis | Renal fibrosis (disorder) | fibrosis kidney | fibrosis kidneys | fibrosis; kidney | kidney fibrosis | kidney; fibrosis | renal fibrosis HPO2016_07_04:Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. [HPO:probinson, PMID:16408108] HPO2016_07_04:HP:0030760|SNOMEDCT_US_2016_09_01:197660000 C0860050 Cotunnius' disease Cotunnius' disease C0859942 Hanot's cirrhosis HANOT SYNDROME | Hanot's cirrhosis | Hanot; cirrhosis | cirrhosis; Hanot SNOMEDCT_US_2016_09_01:31712002 C4021591 Reduced number of intrahepatic bile ducts Hepatic ductopenia | Reduced number of intrahepatic bile ducts HPO2016_07_04:The presence of reduced numbers of intrahepatic bile duct than normal. [HPO:probinson] HPO2016_07_04:HP:0006571 C1521899 Grade i nodular sclerosis hodgkin's lymphoma Classical Hodgkin lymphoma, nodular sclerosis, grade 1 | Grade 1 Nodular Sclerosis Classical Hodgkin Lymphoma | Grade 1 Nodular Sclerosis Hodgkin Lymphoma | Grade 1 Nodular Sclerosis Hodgkin's Lymphoma | Grade I Nodular Sclerosis Hodgkin's Lymphoma | Hodgkin lymphoma, nodular sclerosis, grade 1 | Hodgkin lymphoma, nodular sclerosis, grade 1 (morphologic abnormality) NCI2016_02D:Nodular sclerosis Hodgkin lymphoma in which at least 75% of the tumor nodules contain scattered Reed-Sternberg cells. The background cellular infiltrate is lymphocytic, mixed, or fibrohistiocytic. SNOMEDCT_US_2016_09_01:45572000 C1333015 Childhood kidney wilms tumor Childhood Kidney Wilms Tumor | Childhood Renal Wilms Tumor | Childhood Renal Wilms' Tumor NCI2016_02D:A Wilms tumor of the kidney which occurs in children. C0162773 Sequence deletion Deletion, Sequence | Deletions, Sequence | Sequence Deletion | Sequence Deletions MSH2017_2016_08_12:Deletion of sequences of nucleic acids from the genetic material of an individual. MSH2017_2016_08_12:D017384 C1536114 Central pain syndrome Central pain syndrome | Central pain syndrome (disorder) | central pain syndrome | central pain syndrome (diagnosis) ICD10CM_2017:G89.0|ICD9CM_2014:338.0|SNOMEDCT_US_2016_09_01:426566004 C3809427 Spermatogenic failure 12 SPERMATOGENIC FAILURE 12 | SPGF12 OMIM2016_04_17:608226|OMIM2016_04_17:615413 C2114567 Primary hypersomnia with sleep apnea primary hypersomnia with sleep apnea | primary hypersomnia with sleep apnea (diagnosis) C0346109 Malignant mesothelioma of peritoneum Cancer of the peritoneum, mesothelioma | Malignant Mesothelioma of Peritoneum | Malignant Mesothelioma of the Peritoneum | Malignant Peritoneal Mesothelioma | Malignant mesothelioma of peritoneum | Malignant mesothelioma of peritoneum (disorder) | Mesothelioma of peritoneum | Peritoneal Malignant Mesothelioma | Peritoneal mesothelioma | Peritoneal mesothelioma malignant | malignant mesothelioma of peritoneum | malignant mesothelioma of peritoneum (diagnosis) | mesothelioma of peritoneum | mesothelioma peritoneum | mesothelioma; peritoneum | peritoneal mesothelioma | peritoneum; mesothelioma HPO2016_07_04:A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma. [HPO:sdoelken] | NCI2016_02D:An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites. HPO2016_07_04:HP:0100003|ICD10CM_2017:C45.1|SNOMEDCT_US_2016_09_01:109853004|SNOMEDCT_US_2016_09_01:187806007 C0080179 Vertebra fracture FRACTURE VERTEBRAL | Fracture of spinal vertebra | Fracture of spine | Fracture of vertebra | Fracture of vertebral column | Fracture of vertebral column (disorder) | Fracture of vertebral column, NOS | Fracture vertebral | Fracture, Spinal | Fracture;vertebral colum | Fractured spine | Fractured vertebra | Fractures, Spinal | SPINAL FRACTURES | SPINE FRACTURE | Spinal Fracture | Spinal Fractures | Spinal Fractures [Disease/Finding] | Spinal fracture | Spinal fracture NOS | Spinal fractures | VERTEBRA FRACTURE | VERTEBRAL FRACTURE | Vertebral Fracture | Vertebral fracture | Vertebral fractures | fracture of spine | fracture of vertebra | fracture of vertebral column | fracture of vertebral column (diagnosis) | fracture; vertebra | fractured spine | fractured vertebra | fractured vertebral colum | spinal fracture | spinal fractures | spine fracture | vertebra; fracture | vertebral fracture MSH2017_2016_08_12:Broken bones in the vertebral column. | NCI2016_02D:Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting. | NCI2016_CTCAE_1602D:A finding of traumatic injury to the spine in which the continuity of a vertebral bone is broken. MSH2017_2016_08_12:D016103|OMIM2016_04_17:MTHU043697|SNOMEDCT_US_2016_09_01:50448004 C1867023 Cleft palate large ears small head CLEFT PALATE, MICROCEPHALY, LARGE EARS, AND SHORT STATURE | Cleft palate large ears small head | Cleft palate, microcephaly, large ears, and short stature | SAY SYNDROME | Say Barber Hobbs syndrome | Say syndrome MSH2017_2016_08_12:C536621|OMIM2016_04_17:181180 C0023760 Lip diseases DISEASES OF THE LIPS | Disease of lip | Disease of lips | Disease of lips (disorder) | Disease of lips, NOS | Disease, Lip | Diseases of lips | Diseases of lips NOS | Diseases of lips NOS (disorder) | Diseases, Lip | Disorder of lip | Disorder of lip (disorder) | Lip Disease | Lip Diseases | Lip Diseases [Disease/Finding] | Lip Disorder | Lip disorder | Lip disorder NOS | disease (or disorder); lip | diseases of lips | diseases of the lips | disorder lips | disorder of lip | disorder of lip (diagnosis) | disorders lip | disorders lips | lip disease | lip diseases | lip; disease | lips disease | lips diseases MSH2017_2016_08_12:Diseases involving the LIP. | NCI2016_02D:A non-neoplastic or neoplastic disorder that affects the lips. Representative examples include inflammation and carcinoma. ICD10CM_2017:K13.0|ICD9CM_2014:528.5|MSH2017_2016_08_12:D008047|SNOMEDCT_US_2016_09_01:196563002|SNOMEDCT_US_2016_09_01:90678009 C4014621 Eiee25 EIEE25 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25 OMIM2016_04_17:608305|OMIM2016_04_17:615905 C3273069 Bile duct mucinous cystic neoplasm with low grade intraepithelial neoplasia Bile Duct Mucinous Cystic Neoplasm with Low Grade Intraepithelial Neoplasia NCI2016_02D:A non-invasive mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts. It is characterized by the presence of mild atypia. C0014074 Equine encephalitis Encephalitis, Equine | Encephalomyelitis, Equine | Encephalomyelitis, Equine [Disease/Finding] | Equine Encephalitis | Equine Encephalomyelitis | Equine Encephalomyelitis Viral Infections | Equine Encephalomyelitis Virus Infections | Equine encephalomyelitis | Infections, Equine Encephalomyelitis Virus | encephalitis; equine | equine encephalitis | equine encephalomyelitis | equine; encephalitis MSH2017_2016_08_12:A group of ALPHAVIRUS INFECTIONS which affect horses and man, transmitted via the bites of mosquitoes. Disorders in this category are endemic to regions of South America and North America. In humans, clinical manifestations vary with the type of infection, and range from a mild influenza-like syndrome to a fulminant encephalitis. (From Joynt, Clinical Neurology, 1996, Ch26, pp8-10) MSH2017_2016_08_12:D004683 C2364082 Sense of smell impaired Decreased sense of smell | Decreased smell sensation | Defect or impairment of sense of smell | Difficulty in distinguishing different smells | Diminished sense of smell | HYPOSMIA | Hyposmia | Impaired Sense Of Smell | Reduced sense of smell | Sense of smell impaired | Sense of smell impaired (finding) | decreased sense of smell | decreased sense of smell (symptom) | hyposmia HPO2016_07_04:A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). [HPO:probinson] | NCI2016_02D:Decreased ability to smell. | NCI2016_NICHD_1602D:Decreased ability to smell. HPO2016_07_04:HP:0004409|OMIM2016_04_17:MTHU001813|OMIM2016_04_17:MTHU017450|OMIM2016_04_17:MTHU037062|SNOMEDCT_US_2016_09_01:83156004 C1333990 Hereditary nonpolyposis colorectal cancer Colon Cancer, Familial Nonpolyposis | Colorectal Cancer Hereditary Nonpolyposis | Familial Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) | HNPCC | HNPCC - hereditary nonpolyposis colon cancer | HNPCC - hereditary nonpolyposis colorectal cancer | Hereditary Colorectal Endometrial Cancer Syndrome | Hereditary Defective Mismatch Repair Syndrome | Hereditary Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) | Hereditary Nonpolyposis Colon Cancer | Hereditary Nonpolyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) | Hereditary Nonpolyposis Colorectal Cancer | Hereditary nonpolyposis colon cancer | Hereditary nonpolyposis colon cancer (disorder) | Lynch Cancer Family Syndrome I | Lynch Syndrome | Lynch Syndrome I | Lynch syndrome | Lynch syndrome (disorder) | Syndrome, Lynch | hereditary non-polyposis colon cancer | hereditary non-polyposis colon cancer (diagnosis) | hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) | hereditary nonpolyposis colon cancer | hnpcc MSH2017_2016_08_12:HNPCC with no history of associated cancers. | NCI2016_02D:An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. | NCI2016_02D:An inherited syndrome characterized by the development of several cancers, particularly colon and rectal cancers. It includes Lynch syndrome which is associated with germline mutations in DNA mismatch-repair genes and familial colorectal cancer type X which is characterized by the absence of germline mutations in DNA mismatch-repair genes. | NCI2016_NCI-GLOSS_1602D:An inherited disorder in which affected individuals have a higher-than-normal chance of developing colorectal cancer and certain other types of cancer, often before the age of 50. | SCTSPA_2016_04_30:Enfermedad autos贸mica dominante causada por una mutaci贸n germinal en un gen de reparaci贸n del ADN (MMR) que se manifiesta por una neoplasia maligna hereditaria. | SNOMEDCT_US_2016_09_01:Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. | SNOMEDCT_US_2016_09_01:Patients and families with a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or the EPCAM gene but have not met criterial for hereditary nonpolyposis colon cancer. MSH2017_2016_08_12:D003123|SNOMEDCT_US_2016_09_01:315058005|SNOMEDCT_US_2016_09_01:716318002 C3554609 Mental retardation, autosomal recessive 35 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35 | MRT35 OMIM2016_04_17:615162 C1708045 Fetal lung adenocarcinoma Fetal Adenocarcinoma | Fetal Lung Adenocarcinoma | Pulmonary Adenocarcinoma of Fetal Type | Pulmonary Endodermal Tumor Resembling Fetal Lung | Well-Differentiated Fetal Lung Adenocarcinoma NCI2016_02D:A very rare, well differentiated morphologic variant of lung adenocarcinoma characterized by the presence of glandular structures containing glycogen-rich cells forming tubules that resemble fetal lung tubules. C0042376 Vascular headaches Cephalgia, Vascular | Cephalgias, Vascular | HEADACHE VASCULAR | HEADACHE, VASCULAR | Headache vascular | Headache, Vascular | Headache;vascular | Headaches, Vascular | VASCULAR HEADACHE | Vascular Cephalgia | Vascular Cephalgias | Vascular Headache | Vascular Headaches | Vascular Headaches [Disease/Finding] | Vascular headache | Vascular headache (disorder) | headache vascular | headache; vascular | headaches vascular | vascular headache | vascular headaches | vascular; headache MSH2017_2016_08_12:Secondary headache disorders attributed to a variety of cranial or cervical vascular disorders, such as BRAIN ISCHEMIA; INTRACRANIAL HEMORRHAGES; and CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS. MSH2017_2016_08_12:D014653|SNOMEDCT_US_2016_09_01:128187005 C0011645 Dermatosis papulosa nigra DERMATOSIS PAPULOSA NIGRA | Dermatosis Papulosa Nigra | Dermatosis papulosa nigra | Dermatosis papulosa nigra (disorder) | Dermatosis papulosa nigra (morphologic abnormality) | dermatosis papulosa nigra | dermatosis papulosa nigra (diagnosis) | dermatosis; papulosa nigra | papulosa nigra; dermatosis NCI2016_02D:A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body. MSH2017_2016_08_12:C562379|OMIM2016_04_17:125600|SNOMEDCT_US_2016_09_01:103672009|SNOMEDCT_US_2016_09_01:254669003|SNOMEDCT_US_2016_09_01:25499005 C1859538 Bare lymphocyte syndrome, type ii, complementation group e BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E | Bare Lymphocyte Syndrome, Type II, Complementation Group E MSH2017_2016_08_12:C565910|OMIM2016_04_17:209920|OMIM2016_04_17:601863 C0333124 Impaction IMPACTION | Impaction | Impaction (morphologic abnormality) | Impaction, NOS | impaction SNOMEDCT_US_2016_09_01:61494005 C2931867 Dandy walker cyst Dandy Walker cyst MSH2017_2016_08_12:C538507 C1849719 Bonneau syndrome BONNEAU SYNDROME | Bonneau Syndrome | POLYSYNDACTYLY WITH CARDIAC MALFORMATION | Polysyndactyly with Cardiac Malformation MSH2017_2016_08_12:C564875|OMIM2016_04_17:263630 C0008489 Chorea CHOREA | Chorea | Chorea (disorder) | Chorea (disorder) [Ambiguous] | Chorea (finding) | Chorea Disorder | Chorea Disorders | Chorea NOS | Chorea Syndrome | Chorea Syndromes | Chorea [Disease/Finding] | Chorea syndrome | Choreaform movement | Choreas | Choreatic Disorder | Choreatic Disorders | Choreatic Syndrome | Choreatic Syndromes | Choreic Movement | Choreic Movements | Choreic movement | Choreic movements | Choreiform Movement | Choreiform Movements | Choreiform movement | Choreiform movements | Disorder, Chorea | Disorder, Choreatic | Disorders, Chorea | Disorders, Choreatic | Movement, Choreic | Movement, Choreiform | Movements, Choreic | Movements, Choreiform | Syndrome, Chorea | Syndrome, Choreatic | Syndromes, Chorea | Syndromes, Choreatic | chorea | chorea (diagnosis) | chorea (physical finding) | chorea disorder | chorea disorders | chorea was seen | choreic movements | choreiform movement | choreiform movements | disorders chorea | sudden, jerky involuntary movements | sudden, jerky involuntary movements (symptom) CHV2011_02:a group of diseases marked by involuntary and jerky movements | CSP2006:ceaseless occurrence of rapid, highly complex jerky movements that appear to be well coordinated but are performed involuntarily. | HPO2016_07_04:Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. [HPO:curators] | MSH2017_2016_08_12:Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES. | NCI2016_02D:A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease. | NCI2016_NICHD_1602D:A movement disorder affecting the limbs, trunk, and facial muscles that is characterized by involuntary, unpredictable jerking movements. HPO2016_07_04:HP:0002072|ICD10CM_2017:G25.5|MSH2017_2016_08_12:D002819|OMIM2016_04_17:MTHU002905|OMIM2016_04_17:MTHU003622|OMIM2016_04_17:MTHU034988|SNOMEDCT_US_2016_09_01:271700006|SNOMEDCT_US_2016_09_01:5027007 C1533161 Eccrine poroma Eccrine Poroma | Eccrine poroma | Eccrine poroma (morphologic abnormality) | Eccrine poroma of skin | Eccrine poroma of skin (disorder) | Poroma | [M]Eccrine poroma | eccrine poroma MSH2017_2016_08_12:Benign adnexal neoplasm whose glandular secretion does not release part of the secreting cell. The malignant counterpart of an eccrine poroma is called an ECCRINE POROCARCINOMA. | NCI2016_02D:A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures. Complete excision is curative. MSH2017_2016_08_12:D057091|OMIM2016_04_17:MTHU013254|SNOMEDCT_US_2016_09_01:128915006|SNOMEDCT_US_2016_09_01:254719003|SNOMEDCT_US_2016_09_01:399985004|SNOMEDCT_US_2016_09_01:81143000 C0010232 Cowpox COWPOX | Cow Pox | Cow pox | Cowpox | Cowpox (disorder) | Cowpox [Disease/Finding] | Pox, Cow | cow pox | cowpox | cowpox (diagnosis) | yaba MSH2017_2016_08_12:A mild, eruptive skin disease of milk cows caused by COWPOX VIRUS, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal. | MSHFRE2016:Maladie virale b茅nigne survenant chez les vaches laiti猫res due au cowpox virus, se manifestant par des 茅ruptions cutan茅es localis茅es principalement au niveau de la mamelle et des trayons. L'homme peut se contaminer lors de la traite d'un animal infect茅. ICD10CM_2017:B08.010|ICD9CM_2014:051.01|MSH2017_2016_08_12:D015605|SNOMEDCT_US_2016_09_01:154344005|SNOMEDCT_US_2016_09_01:266193008|SNOMEDCT_US_2016_09_01:70090004 C2676739 Chromosome 2q32-q33 deletion syndrome CHROMOSOME 2q32-q33 DELETION SYNDROME | Chromosome 2q32-Q33 Deletion Syndrome | GLASS | GLASS SYNDROME MSH2017_2016_08_12:C567350|OMIM2016_04_17:608148|OMIM2016_04_17:612313 C1857719 Anemia, diamond-blackfan, 3 Anemia, Diamond-Blackfan, 3 | DBA3 | DIAMOND-BLACKFAN ANEMIA 3 | Diamond-blackfan anemia 3 MSH2017_2016_08_12:C536355|OMIM2016_04_17:602412|OMIM2016_04_17:610629 C3661947 Daily headaches Daily headache | Daily headache (disorder) | daily headaches | headaches occurring daily | headaches occurring daily (symptom) SNOMEDCT_US_2016_09_01:571000119103 C0238441 Subglottic stenosis SGS - Subglottic stenosis | SUBGLOTTIC STENOSIS | Subglottic stenosis | Subglottic stenosis (disorder) | stenosis subglottic | subglottic stenosis | subglottis stenosis | subglottis stenosis (physical finding) HPO2016_07_04:HP:0001607|OMIM2016_04_17:MTHU009340|SNOMEDCT_US_2016_09_01:195864007|SNOMEDCT_US_2016_09_01:22668006 C3554021 Hypogonadotropic hypogonadism 16 with or without anosmia HH16 | HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA OMIM2016_04_17:614897 C1854418 Biparietal narrowing Biparietal narrowing HPO2016_07_04:A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). [HPO:curators] HPO2016_07_04:HP:0004422|OMIM2016_04_17:MTHU004508 C1844777 Cone dystrophy, x-linked, 1 COD1 | CONE DYSTROPHY 1, X-LINKED | CONE DYSTROPHY, X-LINKED, 1 | Cone Dystrophy, X-Linked, 1 MSH2017_2016_08_12:C564439|OMIM2016_04_17:304020|OMIM2016_04_17:312610 C4225192 Muscular dystrophy, limb-girdle, type 2w LGMD2W | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W OMIM2016_04_17:616827 C1836295 Spastic paraplegia 28, autosomal recessive (disorder) SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE | SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder) | SPG28 | Spastic Paraplegia 28, Autosomal Recessive MSH2017_2016_08_12:C563732|OMIM2016_04_17:609340|OMIM2016_04_17:614603 C0266551 Congenital coloboma of iris COLOBOMA IRIDIS | Cleft iris | Coloboma of iris | Coloboma of iris (disorder) | Congenital coloboma of iris | Congenital coloboma of iris (disorder) | IRIS COLOBOMA | Iris coloboma | Notched iris | coloboma iridis | coloboma iris | coloboma of iris | coloboma of iris (diagnosis) | iris coloboma | iris notch ICD10CM_2017:Q13.0|SNOMEDCT_US_2016_09_01:51485001|SNOMEDCT_US_2016_09_01:9446007 C1850865 Muscular dystrophy, congenital, producing arthrogryposis MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS | Muscular Dystrophy, Congenital, Producing Arthrogryposis MSH2017_2016_08_12:C564985|OMIM2016_04_17:253900 C0746066 Lung base pulmonary infiltrate LUNG BASE PULMONARY INFILTRATE C0267656 Postcholecystectomy diarrhea Postcholecystectomy diarrhea | Postcholecystectomy diarrhea (disorder) | Postcholecystectomy diarrhoea SNOMEDCT_US_2016_09_01:53156005 C3553330 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 MDDGA7 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 | WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED OMIM2016_04_17:614631|OMIM2016_04_17:614643 C4024098 Aplasia/hypoplasia of the 1st metacarpal Absent/small 1st long bone of hand | Absent/underdeveloped 1st long bone of hand | Aplasia/Hypoplasia of the 1st metacarpal HPO2016_07_04:Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). [HPO:curators] HPO2016_07_04:HP:0010026 C0004048 Breathing Breathing in | IH | Inhalation | Inhale | Inhaled | Inhaling | Inhaling (observable entity) | Inhaling (qualifier value) | Inspiration | Inspiration (function) | Inspiration (observable entity) | Inspiration function | Inspiration, Respiratory | Inspiration, function (observable entity) | Inspiratory | Inspired | Respiratory Inspiration | breathing | breathing in | breathing inspiration | in breathing | inhal | inhalation | inhalations | inhaled | inhaling | inspir | inspiration | inspiration (breathing) | inspirations | inspiratory | inspired | respiratory aspiration HL7V3.0_2015_07:Inhalation
| MSH2017_2016_08_12:The act of BREATHING in. | NCI2016_02D:Taking ambient air into the lungs; breathing in. | NCI2016_02D:To draw in with the breath through the nose or mouth. MSH2017_2016_08_12:D001239|SNOMEDCT_US_2016_09_01:14910006|SNOMEDCT_US_2016_09_01:258160008 C0854842 Angioimmunoblastic t-cell lymphoma stage iv Angioimmunoblastic T-Cell Lymphoma Stage IV | Angioimmunoblastic T-cell lymphoma stage IV | Stage IV Angioimmunoblastic T-cell Lymphoma NCI2016_02D:Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid. C0278697 Childhood hepatoma, group ii Stage II Childhood Hepatocellular Carcinoma | Stage II Childhood Hepatocellular Carcinoma AJCC v6 | Stage II Childhood Hepatocellular Carcinoma AJCC v7 | Stage II Childhood Hepatoma | Stage II Childhood Liver Cell Carcinoma | Stage II Pediatric Hepatocellular Carcinoma | Stage II Pediatric Hepatoma | Stage II Pediatric Liver Cell Carcinoma | childhood hepatoma, group II | childhood hepatoma, stage II | childhood liver cancer, group II | childhood liver cancer, stage II | group II childhood hepatoma | group II childhood liver cancer | group II pediatric hepatoma | group II pediatric liver cancer | hepatoma, childhood, group II | hepatoma, childhood, stage II | hepatoma, pediatric, group II | hepatoma, pediatric, stage II | liver cancer, childhood, group II | liver cancer, childhood, stage II | liver cancer, pediatric, group II | liver cancer, pediatric, stage II | pediatric hepatoma, group II | pediatric hepatoma, stage II | pediatric liver cancer, group II | pediatric liver cancer, stage II | stage II childhood hepatoma | stage II childhood liver cancer | stage II pediatric hepatoma | stage II pediatric liver cancer NCI2016_02D:Stage II includes: T2, N0, M0. T2: Solitary tumor with vascular invasion or multiple tumors none more than 5 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) | NCI2016_NCI-GLOSS_1602D:All of the cancer was removed by surgery, except for a small amount of cancer that can be seen only with a microscope, or tumor cells that may have spilled into the abdomen during surgery. C1852750 Coloboma, uveal, with cleft lip and palate and mental retardation Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation MSH2017_2016_08_12:C565173 C1860658 Suppressor of tumorigenicity 3 CCTS | CERVICAL CARCINOMA, TUMOR-SUPPRESSOR GENE INVOLVED IN | ST3 | SUPPRESSOR OF TUMORIGENICITY 3 | TSHL | TUMOR-SUPPRESSOR GENE, HELA CELL TYPE OMIM2016_04_17:191181 C0206611 Pestivirus infections DISEASES DUE TO PESTIVIRUS | Disease due to Pestivirus | Disease due to Pestivirus (disorder) | Disease due to Pestivirus, NOS | Infection, Pestivirus | Infections, Pestivirus | Pestivirus Infection | Pestivirus Infections | Pestivirus Infections [Disease/Finding] | Pestivirus infections MSH2017_2016_08_12:Infections with viruses of the genus PESTIVIRUS, family FLAVIVIRIDAE. | MSHFRE2016:Infections virales dues aux virus du genre pestivirus, famille des Flaviviridae. MSH2017_2016_08_12:D018182|SNOMEDCT_US_2016_09_01:72730002 C0079504 Hermanski-pudlak syndrome Albinism with haemorrhagic diathesis | Albinism with hemorrhagic diathesis | Alpha storage pool disease | H.P.S. | HPS (Hermansky Pudlak syndrome) | Hermanski Pudlak Syndrome | Hermanski-Pudlak Syndrome | Hermanski-Pudlak Syndrome [Disease/Finding] | Hermansky Pudlak Syndrome | Hermansky Pudlak syndrome | Hermansky-Pudlack syndrome | Hermansky-Pudlack syndrome (disorder) | Hermansky-Pudlack syndrome -RETIRED- | Hermansky-Pudlak | Hermansky-Pudlak Syndrome | Hermansky-Pudlak syndrome | Hermansky-Pudlak syndrome (diagnosis) | Hermansky-Pudlak syndrome (disorder) | h p s | h s p | hermanski-pudlak syndrome | hermansky pudlak syndrome | hermansky-pudlak syndrome MSH2017_2016_08_12:Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin. | NCI2016_02D:A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis. ICD10CM_2017:E70.331|MSH2017_2016_08_12:D022861|SNOMEDCT_US_2016_09_01:190697008|SNOMEDCT_US_2016_09_01:60255003|SNOMEDCT_US_2016_09_01:9311003 C0263637 Angioma serpiginosum, x-linked ANGIOMA SERPIGINOSUM, X-LINKED | Angioma Serpiginosum | Angioma serpiginosum | Angioma serpiginosum (disorder) | Angioma serpiginosum of skin | Angioma serpiginosum, X-linked | Essential telangiectasia | angioma serpiginosum | angioma serpiginosum (diagnosis) | angioma; serpiginosum | essential telangiectasia | essential telangiectasias | serpiginosum; angioma NCI2016_02D:A hemangioma arising from the skin, presenting as a red dot. ICD10CM_2017:L81.7|MSH2017_2016_08_12:C536366|OMIM2016_04_17:300652|SNOMEDCT_US_2016_09_01:11790000|SNOMEDCT_US_2016_09_01:195382003|SNOMEDCT_US_2016_09_01:49465005 C3671377 Sebocystomatosis Sebocystomatosis MSH2017_2016_08_12:C580471 C2750355 Omodysplasia 2 OMOD2 | OMODYSPLASIA 2 | OMODYSPLASIA, AUTOSOMAL DOMINANT | Omodysplasia 2 | Omodysplasia, Autosomal Dominant MSH2017_2016_08_12:C567664|OMIM2016_04_17:164745 C2677105 Inflammatory bowel disease 12 IBD12 | INFLAMMATORY BOWEL DISEASE 12 | Inflammatory Bowel Disease 12 MSH2017_2016_08_12:C567388|OMIM2016_04_17:612241 C0275938 Papulo-necrotic tuberculid Papulo-necrotic tuberculid | Papulonecrotic tuberculid | Papulonecrotic tuberculide | Tuberculosis papulonecrotica | Tuberculosis papulonecrotica (disorder) | tuberculosis papulonecrotica | tuberculosis papulonecrotica (diagnosis) | tuberculosis; papulonecrotica SNOMEDCT_US_2016_09_01:41156006 C3494902 Benign myoclonic epilepsy in infancy, non-intractable Benign myoclonic epilepsy in infancy, non-intractable | Benign myoclonic epilepsy in infancy, non-refractory | Benign myoclonic epilepsy in infancy, non-refractory (disorder) SNOMEDCT_US_2016_09_01:431101000124102 C2752042 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi CLOVE SYNDROME | CLOVES SYNDROME | CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI | CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | Clove Syndrome | Cloves Syndrome | Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal-Spinal Abnormalities | Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi MSH2017_2016_08_12:C567863|OMIM2016_04_17:612918 C0919785 Transferrin saturation decreased Decreased transferrin saturation | Transferrin saturation decreased HPO2016_07_04:A below normal level of saturation of serum transferrin with iron. [HPO:probinson] HPO2016_07_04:HP:0012464 C0850826 Localized skin lesion Lesion;skin;localised | Lesion;skin;localized | Localized Skin Lesion | Localized skin lesion | localised skin lesion | localized skin lesion HPO2016_07_04:A lesion of the skin that is located in a specific region rather than being generalized. [DDD:cmoss] | NCI2016_02D:A pathologic process that affects the skin and is confined to a specific area. HPO2016_07_04:HP:0011355 C3805574 Increased fracture rate Increased fracture rate | Increased fractures | Recurrent fractures HPO2016_07_04:HP:0002757|OMIM2016_04_17:MTHU006646|OMIM2016_04_17:MTHU024170|OMIM2016_04_17:MTHU041274 C1842562 Heterotopia, periventricular, associated with chromosome 5p anomalies HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5p ANOMALIES | Heterotopia, Periventricular, associated with Chromosome 5p Anomalies | PERIVENTRICULAR NODULAR HETEROTOPIA 3 | PVNH3 | Periventricular Nodular Heterotopia 3 MSH2017_2016_08_12:C564291|OMIM2016_04_17:608098 C1843793 Progressive language deterioration Progressive language deterioration HPO2016_07_04:Progressive loss of previously present language abilities. [HPO:probinson] HPO2016_07_04:HP:0007064|OMIM2016_04_17:MTHU003257 C0730120 Cysts of iris and ciliary body Cyst of iris and/or ciliary body | Cyst of iris and/or ciliary body (disorder) | Cysts of iris and ciliary body | Cysts of iris and ciliary body (disorder) SNOMEDCT_US_2016_09_01:312770008 C0160680 Carotid artery injury Artery Injuries, Carotid | Artery Injury, Carotid | Artery Trauma, Carotid | Carotid Arteriopathies, Traumatic | Carotid Arteriopathy, Traumatic | Carotid Artery Injuries | Carotid Artery Injuries [Disease/Finding] | Carotid Artery Injury | Carotid Artery Trauma | Carotid artery injury | Carotid artery injury NOS | Carotid artery injury NOS (disorder) | Carotid artery injury, unspec. | Carotid artery injury, unspecified | Carotid artery injury, unspecified (disorder) | Injuries, Carotid Artery | Injury of carotid artery | Injury of carotid artery (disorder) | Injury of carotid artery NOS | Injury of carotid artery, NOS | Injury of carotid artery, unspecified | Injury to Carotid Artery | Injury to carotid artery | Injury to carotid artery, unspecified | Injury, Carotid Artery | Trauma, Carotid Artery | Traumatic Carotid Arteriopathy | Unspecified injury of carotid artery | a.carotis; injury | carotid artery injury | injury carotid artery | injury of carotid artery | injury of carotid artery (diagnosis) | injury; carotid artery | trauma carotid artery MSH2017_2016_08_12:Damages to the CAROTID ARTERIES caused either by blunt force or penetrating trauma, such as CRANIOCEREBRAL TRAUMA; THORACIC INJURIES; and NECK INJURIES. Damaged carotid arteries can lead to CAROTID ARTERY THROMBOSIS; CAROTID-CAVERNOUS SINUS FISTULA; pseudoaneurysm formation; and INTERNAL CAROTID ARTERY DISSECTION. (From Am J Forensic Med Pathol 1997, 18:251; J Trauma 1994, 37:473) | NCI2016_02D:Damage to the carotid artery. Causes include blunt injuries (e.g., motor vehicle accidents and sports-related injuries) and penetrating traumas (e.g., gunshot and knife injuries). | NCI2016_CTCAE_1602D:A finding of damage to the carotid artery. ICD10CM_2017:S15.0|ICD10CM_2017:S15.00|ICD9CM_2014:900.0|ICD9CM_2014:900.00|MSH2017_2016_08_12:D020212|SNOMEDCT_US_2016_09_01:210776005|SNOMEDCT_US_2016_09_01:210777001|SNOMEDCT_US_2016_09_01:6956001 C0267716 Incisional hernia HERNIA INCISIONAL | Hernia - incisional | Hernia, Incisional | Hernia, Postoperative | Hernia, incisional | Hernia;incisional | Hernias, Incisional | Hernias, Postoperative | Herniation through surgical site | INCISIONAL HERNIA | Incisional Hernia | Incisional Hernia [Disease/Finding] | Incisional Hernias | Incisional hernia | Incisional hernia (disorder) | Incisional hernia (disorder) [Ambiguous] | Incisional hernia NOS | Incisional hernia NOS (disorder) | Incisional hernia, NOS | Incisional hernias | Postoperative Hernia | Postoperative Hernias | Postoperative hernia | Postoperative incisional hernia | Postoperative incisional hernia (disorder) | Postoperative incisional hernia -RETIRED- | abdomen hernia incisional | hernia incisional | hernia postoperative | incisional abdominal hernia | incisional abdominal hernia (physical finding) | incisional hernia | incisional hernia (diagnosis) | incisional hernia of abdomen | incisional hernias | postoperative hernia | postoperative incisional hernia | postoperative incisional hernia (diagnosis) HPO2016_07_04:An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound. [HPO:probinson] | MSH2017_2016_08_12:Protrusion of tissue at or near the site of an incision from a previous surgery. HPO2016_07_04:HP:0004872|ICD10CM_2017:K43.2|MSH2017_2016_08_12:D000069290|SNOMEDCT_US_2016_09_01:1187001|SNOMEDCT_US_2016_09_01:155752004|SNOMEDCT_US_2016_09_01:196876001|SNOMEDCT_US_2016_09_01:196899002|SNOMEDCT_US_2016_09_01:236037000|SNOMEDCT_US_2016_09_01:241556001|SNOMEDCT_US_2016_09_01:266513000|SNOMEDCT_US_2016_09_01:74954003 C2751843 Leukoencephalopathy, cystic, without megalencephaly LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY | Leukoencephalopathy, Cystic, Without Megalencephaly MSH2017_2016_08_12:C567845|OMIM2016_04_17:612944|OMIM2016_04_17:612951 C2957352 Influenza a h1n1 novel 2009 with gastrointestinal manifestations influenza a h1n1 novel 2009 with gastrointestinal manifestations | influenza a h1n1 novel 2009 with gastrointestinal manifestations (diagnosis) C1842307 Ectodermal dysplasia, hypohidrotic, with acanthosis nigricans ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH ACANTHOSIS NIGRICANS | Ectodermal Dysplasia, Hypohidrotic, with Acanthosis Nigricans | LELIS SYNDROME | Lelis Syndrome MSH2017_2016_08_12:C564261|OMIM2016_04_17:608290 C2673642 Combined oxidative phosphorylation deficiency 5 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 | COXPD5 | Combined Oxidative Phosphorylation Deficiency 5 MSH2017_2016_08_12:C567126|OMIM2016_04_17:605810|OMIM2016_04_17:611719 C3897742 Recurrent childhood subependymal giant cell astrocytoma Recurrent Childhood Subependymal Giant Cell Astrocytoma NCI2016_02D:The reemergence of subependymal giant cell astrocytoma in childhood after a period of remission. C0600176 Argentaffinoma Argentaffinoma | Argentaffinoma [obs] | Argentaffinoma, NOS | Argentaffinomas | Carcinoid Tumor of Uncertain Malignant Potential | Carcinoid tumor - argentaffin | Carcinoid tumor - argentaffin (morphologic abnormality) | Carcinoid tumor of uncertain malignant potential | Carcinoid tumor of uncertain malignant potential (morphologic abnormality) | Carcinoid tumor, argentaffin | Carcinoid tumor, argentaffin (morphologic abnormality) | Carcinoid tumor, argentaffin -RETIRED- | Carcinoid tumor, argentaffin NOS | Carcinoid tumor, argentaffin, NOS | Carcinoid tumour - argentaffin | Carcinoid tumour - argentaffin (disorder) | Carcinoid tumour of uncertain malignant potential | Carcinoid tumour, argentaffin | Carcinoid tumour, argentaffin -RETIRED- | Carcinoid tumour, argentaffin NOS | Carcinoid tumour, argentaffin, NOS | [M]Carcinoid tumor, argentaffin, NOS | [M]Carcinoid tumour, argentaffin, NOS | argentaffinoma NCI2016_02D:A carcinoid tumor that shows atypical characteristics and has borderline malignant potential. MSH2017_2016_08_12:D002276|SNOMEDCT_US_2016_09_01:15005003|SNOMEDCT_US_2016_09_01:189610004|SNOMEDCT_US_2016_09_01:22228003|SNOMEDCT_US_2016_09_01:274904007 C4072873 Limited eye motility from duane anomaly Limited eye motility from Duane anomaly | Limited eye movement from Duane anomaly HPO2016_07_04:HP:0009921 C1834728 Malignant genitourinary tract tumors Malignant genitourinary tract tumor | Malignant genitourinary tract tumors HPO2016_07_04:The presence of a malignant neoplasm of the genital system. [HPO:probinson] HPO2016_07_04:HP:0006758|OMIM2016_04_17:MTHU017052 C1704421 Skin pigmentation disorder Anomalous pigmentation of skin | Anomalous pigmentation of skin, NOS | Disorder of skin pigmentation | Disorder of skin pigmentation (disorder) | Dyschromia | Miscellaneous disorders of skin pigmentation | Miscellaneous disorders of skin pigmentation (disorder) | Pigmentation Disorders | SKIN PIGMENTATION DISORDERS | Skin Pigmentation Disorder | Skin Pigmentation Disorders | Skin pigmentation disorder | Skin pigmentation disorder, NOS | Skin pigmented | Skin pigmented (disorder) | disorder pigmentation skin | disorders pigmentation skin | pigment skin | pigmented skin | pigments skin | skin pigment | skin pigmentation disorder | skin pigmentation disorders MEDLINEPLUS_20151021:Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment called melanin. Special cells in the skin make melanin. When these cells become damaged or unhealthy, it affects melanin production. Some pigmentation disorders affect just patches of skin. Others affect your entire body.
If your body makes too much melanin, your skin gets darker. Pregnancy, Addison's disease, and sun exposure all can make your skin darker. If your body makes too little melanin, your skin gets lighter. Vitiligo is a condition that causes patches of light skin. Albinism is a genetic condition affecting a person's skin. A person with albinism may have no color, lighter than normal skin color, or patchy missing skin color. Infections, blisters and burns can also cause lighter skin.
| NCI2016_02D:A disorder of the skin characterized by loss or reduction of the skin color. It is caused by loss of melanocytes or abnormalities in melanin production. SNOMEDCT_US_2016_09_01:239129006|SNOMEDCT_US_2016_09_01:46690002 C0040702 Transient tic disorders Benign Tic Disorder of Childhood | Tic Disorder, Transient | Tic Disorders, Transient | Transient Tic Disorder | Transient Tic Disorders | Transient tic disorder | Transient tic disorder (disorder) | Transient tic disorder, NOS | transient tic disorder | transient tic disorder (diagnosis) | transient tic disorders NCI2016_02D:A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause. | NCI2016_NICHD_1602D:A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause. ICD10CM_2017:F95.0|ICD9CM_2014:307.21|MSH2017_2016_08_12:D013981|SNOMEDCT_US_2016_09_01:192622000|SNOMEDCT_US_2016_09_01:56573006 C0272126 Evans syndrome Autoimmune hemolytic anemia and autoimmune thrombocytopenia | EVAN SYNDROME | Evan's syndrome | Evans | Evans Syndrome | Evans syndrome | Evans syndrome (disorder) | Evans' Syndrome | Evans' syndrome | Evans' syndrome (diagnosis) | evan syndrome | evan's syndrome | evans syndrome | evans' syndrome | evans's syndrome NCI2016_02D:A rare, chronic and relapsing autoimmune disorder of unknown etiology, characterized by the presence of immune thrombocytopenia and autoimmune hemolytic anemia. ICD10CM_2017:D69.41|ICD9CM_2014:287.32|MSH2017_2016_08_12:C536380|SNOMEDCT_US_2016_09_01:191315003|SNOMEDCT_US_2016_09_01:75331009 C1857743 Leber congenital amaurosis 12 (disorder) LCA12 | LEBER CONGENITAL AMAUROSIS 12 | LEBER CONGENITAL AMAUROSIS 12 (disorder) | Leber Congenital Amaurosis 12 MSH2017_2016_08_12:C565697|OMIM2016_04_17:180040|OMIM2016_04_17:610612 C0685840 Congenital hypoplasia of ovary Congenital hypoplasia of ovary | Congenital hypoplasia of ovary (disorder) | Congenital small ovary | Hypoplasia of the ovary | Underdeveloped ovary | hypoplasia; ovary | ovary; hypoplasia HPO2016_07_04:Developmental hypoplasia of the ovary. [HPO:probinson] HPO2016_07_04:HP:0008724|SNOMEDCT_US_2016_09_01:93279005 C0334511 Pleural solitary fibrous tumor Benign Fibrous Mesothelioma | Benign Fibrous Mesotheliomas | Benign fibrous mesothelioma | Fibroma of Pleura | Fibroma of the Pleura | Fibroma, Submesothelial | Fibromas, Submesothelial | Fibrous Mesothelioma | Fibrous Mesothelioma, Benign | Fibrous Mesothelioma, Localized | Fibrous Mesothelioma, Solitary | Fibrous Mesotheliomas | Fibrous Mesotheliomas, Benign | Fibrous Mesotheliomas, Localized | Fibrous Mesotheliomas, Solitary | Fibrous mesothelioma, benign | Fibrous mesothelioma, benign (morphologic abnormality) | Localised fibrous tumour of pleura | Localized Fibrous Mesothelioma | Localized Fibrous Mesothelioma of Pleura | Localized Fibrous Mesothelioma of the Pleura | Localized Fibrous Mesotheliomas | Localized Mesothelioma | Localized Mesotheliomas | Localized fibrous tumor of pleura | Mesothelioma, Benign Fibrous | Mesothelioma, Fibrous | Mesothelioma, Localized | Mesothelioma, Localized Fibrous | Mesothelioma, Solitary Fibrous | Mesotheliomas, Benign Fibrous | Mesotheliomas, Fibrous | Mesotheliomas, Localized | Mesotheliomas, Localized Fibrous | Mesotheliomas, Solitary Fibrous | Pleural Fibroma | Pleural Solitary Fibrous Tumor | Pleural Submesothelial Fibroma | Pleural fibroma | Pleural fibroma (disorder) | Solitary Fibrous Mesothelioma | Solitary Fibrous Mesotheliomas | Solitary Fibrous Tumor of Pleura | Solitary Fibrous Tumor of the Pleura | Solitary Fibrous Tumor, Pleural | Solitary Fibrous Tumor, Pleural [Disease/Finding] | Solitary fibrous tumor of pleura | Solitary fibrous tumour of pleura | Submesothelial Fibroma | Submesothelial Fibromas MSH2017_2016_08_12:A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure. | NCI2016_02D:A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen. MSH2017_2016_08_12:D054363|SNOMEDCT_US_2016_09_01:15702005|SNOMEDCT_US_2016_09_01:254646001 C0022363 Jaw fracture Broken jaw | Fracture, Jaw | Fracture;jaw | Fractured jaw | Fractures, Jaw | JAW FRACTURE | Jaw Fracture | Jaw Fractures | Jaw Fractures [Disease/Finding] | Jaw fracture | Jaw fracture NOS | Jaw fracture NOS (disorder) | broken jaw | broken jaws | fracture jaw | fracture jaws | fracture; jaw | fractured jaw | fractures jaws | jaw broken | jaw fracture | jaw fractures | jaw; fracture MSH2017_2016_08_12:Fractures of the upper or lower jaw. | NCI2016_02D:A break in one or both bones that comprise the jaw. MSH2017_2016_08_12:D007572|SNOMEDCT_US_2016_09_01:207802005|SNOMEDCT_US_2016_09_01:263255000 C0456052 Fifth day fits Fifth day fits | Fifth day fits (disorder) SNOMEDCT_US_2016_09_01:276597004 C0334384 Infiltrating duct and lobular carcinoma Carcinoma of breast with ductal and lobular features | Carcinoma of breast with ductal and lobular features (diagnosis) | Carcinoma of breast with ductal and lobular features (disorder) | DCIS and ILC | DCIS and Infiltrating Lobular Carcinoma | Ductal Breast Carcinoma In Situ and Invasive Lobular Carcinoma | Ductal Carcinoma in situ and Infiltrating Lobular Carcinoma | Ductal and Lobular Carcinoma | Infiltrating Ductal and Lobular Carcinoma in situ | Infiltrating duct and lobular carcinoma | Infiltrating duct and lobular carcinoma (disorder) | Infiltrating duct and lobular carcinoma (morphologic abnormality) | Infiltrating duct and lobular carcinoma in situ | Infiltrating lobular carcinoma and ductal carcinoma in situ | Intraductal and Lobular Carcinoma | Intraductal and lobular carcinoma | Invasive Ductal and Lobular Carcinoma In Situ | LCIS and Infiltrating Ductal Carcinoma | Lobular Carcinoma in situ and Infiltrating Ductal Carcinoma | Lobular Carcinoma in situ and Invasive Ductal Carcinoma | Lobular and ductal carcinoma | Mixed Ductal and Lobular Breast Carcinoma | Mixed Ductal and Lobular Carcinoma of Breast | Mixed Ductal and Lobular Carcinoma of the Breast | Mixed Lobular and Ductal Breast Carcinoma | Mixed Lobular and Ductal Carcinoma | Mixed Lobular and Ductal Carcinoma of Breast | Mixed Lobular and Ductal Carcinoma of the Breast | Mixed ductal and lobular carcinoma of breast | Mixed ductal lobular breast carcinoma | Non-Infiltrating Ductal Carcinoma and ILC | Non-Infiltrating Ductal Carcinoma and Infiltrating Lobular Carcinoma | [M] Infiltrating duct and lobular carcinoma | [M]Infiltrating duct and lobular carcinoma | breast neoplasm malignant carcinoma with ductal and lobular features | carcinoma; infiltrating duct with lobular ca, unspecified site NCI2016_02D:A breast carcinoma characterized by the presence of a ductal carcinoma in situ component and an in situ or invasive lobular carcinomatous component. | NCI2016_02D:A breast carcinoma characterized by the presence of a ductal carcinoma in situ component and an invasive lobular carcinomatous component. | NCI2016_02D:A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor. | NCI2016_02D:An invasive ductal breast carcinoma associated with an in situ lobular carcinomatous component. SNOMEDCT_US_2016_09_01:189707003|SNOMEDCT_US_2016_09_01:35232005|SNOMEDCT_US_2016_09_01:444604002 C0240679 Pelvic girdle muscle atrophy PELVIC GIRDLE MUSCLE ATROPHY | Pelvic girdle muscle atrophy | Pelvic girdle muscle wasting HPO2016_07_04:Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles). [HPO:curators] HPO2016_07_04:HP:0008988|OMIM2016_04_17:MTHU010987 C0205643 Carcinoma, cribriform Carcinoma, Cribriform | Carcinomas, Cribriform | Cribriform Carcinoma | Cribriform Carcinomas | Cribriform carcinoma | Cribriform carcinoma (morphologic abnormality) | Ductal carcinoma, cribriform type | cribriform carcinoma | cribriform carcinoma (diagnosis) NCI2016_02D:A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma. MSH2017_2016_08_12:D000230|SNOMEDCT_US_2016_09_01:30156004 C1845359 Spinal muscular atrophy, distal, x-linked 3 DSMAX | SMAX3 | SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 | SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE | Spinal Muscular Atrophy, Distal, X-Linked 3 | Spinal Muscular Atrophy, Distal, X-Linked Recessive MSH2017_2016_08_12:C564506|OMIM2016_04_17:300011|OMIM2016_04_17:300489 C0085433 Acquired joint deformities Acquired Joint Deformities | Acquired Joint Deformity | Deformities, Acquired Joint | Deformity, Acquired Joint | Joint Deformities, Acquired | Joint Deformities, Acquired [Disease/Finding] | Joint Deformity, Acquired MSH2017_2016_08_12:Deformities acquired after birth as the result of injury or disease. The joint deformity is often associated with rheumatoid arthritis and leprosy. MSH2017_2016_08_12:D016916 C0155795 Pelvis varix PELVIS VARIX | Pelvic varices | Pelvic varices (disorder) | Varicose veins pelvic | pelvic varices | pelvic varices (diagnosis) | pelvic varicose veins | pelvis; varix | varices; pelvic | varicose vein pelvic ICD10CM_2017:I86.2|ICD9CM_2014:456.5|SNOMEDCT_US_2016_09_01:17406005|SNOMEDCT_US_2016_09_01:195481006|SNOMEDCT_US_2016_09_01:266271008 C1863551 Hypercholesterolemia, autosomal dominant, 3 FH3 | HCHOLA3 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 | Hypercholesterolemia, Autosomal Dominant, 3 MSH2017_2016_08_12:C566337|OMIM2016_04_17:603776 C1302999 Ankyloblepharon filiforme adnatum Ankyloblepharon filiforme adnatum | Ankyloblepharon filiforme adnatum (disorder) | Ankyloblepharon filiforme congenitum HPO2016_07_04:HP:0009755|MSH2017_2016_08_12:C536373|OMIM2016_04_17:MTHU019531|SNOMEDCT_US_2016_09_01:400952003 C1266063 Malignant eccrine spiradenoma Malignant Eccrine Spiradenoma | Malignant Spiradenoma | Malignant eccrine spiradenoma | Malignant eccrine spiradenoma (morphologic abnormality) | Malignant eccrine spiradenoma of skin | Malignant eccrine spiradenoma of skin (disorder) | Malignant spiradenoma | Spiradenocarcinoma | malignant eccrine spiradenoma of skin | malignant eccrine spiradenoma of skin (diagnosis) NCI2016_02D:A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs. SNOMEDCT_US_2016_09_01:128895006|SNOMEDCT_US_2016_09_01:403942003 C4048705 Hypermethioninemia Hypermethioninemia | Methioninemia MSH2017_2016_08_12:C564683 C1412035 Disorder of balance, vestibular nerve Disorder of balance, vestibular nerve | Disorder of balance, vestibular nerve (finding) | Equilibration disorder, vestibular nerve | Equilibration disorder, vestibular nerve (disorder) | Equilibration disorder, vestibular nerve (finding) SNOMEDCT_US_2016_09_01:263841004|SNOMEDCT_US_2016_09_01:265622002|SNOMEDCT_US_2016_09_01:59849009 C1838608 Radial aplasia Aplasia of the radius | Radial aplasia | aplasia of radius | aplasia of radius (diagnosis) HPO2016_07_04:HP:0003974|OMIM2016_04_17:MTHU006613 C0263640 Angiokeratoma of mibelli Angiokeratoma of Mibelli | Angiokeratoma of Mibelli (disorder) SNOMEDCT_US_2016_09_01:62727008 C0270639 Lateral sinus thrombosis Cerebral venous thrombosis of lateral sinus | Lateral Sinus Thromboses | Lateral Sinus Thrombosis | Lateral Sinus Thrombosis [Disease/Finding] | Sinus Thromboses, Transverse | THROMBOSIS, LATERAL SINUS | Thromboses, Lateral Sinus | Thromboses, Transverse Sinus | Thrombosis of lateral venous sinus | Thrombosis of lateral venous sinus (disorder) | Thrombosis of transverse sinus | Thrombosis transverse sinus | Thrombosis transverse sinus (disorder) | Thrombosis, Lateral Sinus | Thrombosis, Transverse Sinus | Transverse Sinus Thromboses | Transverse Sinus Thrombosis | Transverse sinus thrombosis | cerebral vein thrombosis of lateral sinus | cerebral vein thrombosis of lateral sinus (diagnosis) | lateral sinus thrombosis | sinus transverse thrombosis | transverse sinus thrombosis MSH2017_2016_08_12:Formation or presence of a blood clot (THROMBUS) in the LATERAL SINUSES. This condition is often associated with ear infections (OTITIS MEDIA or MASTOIDITIS) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; NEUROSURGICAL PROCEDURES; THROMBOPHILIA; and other conditions. Clinical features include HEADACHE; VERTIGO; and increased intracranial pressure. MSH2017_2016_08_12:D020227|SNOMEDCT_US_2016_09_01:192761004|SNOMEDCT_US_2016_09_01:21258007 C1836906 Arrhythmogenic right ventricular dysplasia, familial, 9 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 9 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ARVC9 | ARVD9 | Arrhythmogenic Right Ventricular Cardiomyopathy 9 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 MSH2017_2016_08_12:C563808|OMIM2016_04_17:602861|OMIM2016_04_17:609040 C1848529 Pontine hypoplasia Hypoplasia of the pons | Pontine hypoplasia HPO2016_07_04:Underdevelopment of the pons. [HPO:probinson] HPO2016_07_04:HP:0012110|OMIM2016_04_17:MTHU008796 C0859015 Irritability; stomach Irritable stomach | irritability; stomach | stomach; irritability C1837371 Sudden infant death with dysgenesis of the testes syndrome SIDDT | SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME | Sudden Infant Death with Dysgenesis of the Testes Syndrome | Sudden infant death with dysgenesis of testes syndrome | Sudden infant death with dysgenesis of testes syndrome (disorder) MSH2017_2016_08_12:C563856|OMIM2016_04_17:604714|OMIM2016_04_17:608800|SNOMEDCT_US_2016_09_01:711157000 C0275708 Mycobacterium marinum infection Aquarium granuloma | Fish tank granuloma | Fish tank granuloma (disorder) | Infection caused by Mycobacterium marinum | Infection caused by Mycobacterium marinum (disorder) | Infection due to Mycobacterium marinum | Infection due to Mycobacterium marinum (disorder) | Infection with Mycobacterium marinum | Mycobacterium marinum Infection | Mycobacterium marinum infection | Swimming pool granuloma | Swimming pool granuloma disease | Swimming pool granuloma disease (disorder) | granuloma; swimming-pool | mycobacterium marinum infection | swimming pool granuloma | swimming-pool granuloma | swimming-pool; granuloma ICD10CM_2017:A31.1|MSH2017_2016_08_12:C535526|SNOMEDCT_US_2016_09_01:111813005|SNOMEDCT_US_2016_09_01:186343005|SNOMEDCT_US_2016_09_01:240417004|SNOMEDCT_US_2016_09_01:373438001|SNOMEDCT_US_2016_09_01:373579002 C1334406 Localized bone ewing sarcoma Localized Bone Ewing Sarcoma | Localized Bone Ewing's Sarcoma | Localized Ewing's Sarcoma of Bone | Localized Ewing's Sarcoma of the Bone | Localized Osseous Ewing's Sarcoma | Localized Skeletal Ewing's Sarcoma NCI2016_02D:An Ewing sarcoma which is confined to a specific area of the bone and has not spread to other parts of the skeleton. C1642397 Respiratory tract congestion and cough Respiratory tract congestion and cough | Respiratory tract congestion and cough (disorder) SNOMEDCT_US_2016_09_01:417850002 C3806347 Hyperhomocystinemia Elevated blood homocystine | Homocystinemia | Hyperhomocystinemia HPO2016_07_04:An increased concentration of homocystine in the blood. [HPO:gcarletti] HPO2016_07_04:HP:0002160|OMIM2016_04_17:MTHU041945 C0002902 Anencephaly ANENCEPHALIA | ANENCEPHALUS | ANENCEPHALY | Absence of Brain, Congenital | Agenesis of brain | Anencephalia | Anencephalias | Anencephalic monster | Anencephalus | Anencephalus (disorder) | Anencephalus NOS | Anencephalus NOS (disorder) | Anencephalus et al NOS | Anencephaly | Anencephaly (disorder) | Anencephaly [Disease/Finding] | Brain Congenital Absence | Congenital Absence of Brain | Congenital absence of brain | absence; brain | agenesis of brain | agenesis of brain (diagnosis) | agenesis; brain | anencephalia | anencephalus | anencephaly | anencephaly (diagnosis) | aplasia; brain | brain aplasia | brain; absent | brain; agenesis | brain; aplasia CSP2006:congenital malformation of the nervous system caused by failure of the anterior neuropore to close; infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level; the skull is only partially formed but the eyes are usually normal; affected infants are only capable of primitive reflexes and usually do not survive for more than two weeks; complete absence of the brain is rare. | MSH2017_2016_08_12:A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247) | NCI2016_02D:A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus. | NCI2016_CDISC_1602D:Absence of the cranial region of the head, with the brain absent or reduced. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) HPO2016_07_04:HP:0002323|ICD10CM_2017:Q00.0|ICD9CM_2014:740.0|MSH2017_2016_08_12:D000757|OMIM2016_04_17:206500|OMIM2016_04_17:MTHU011716|SNOMEDCT_US_2016_09_01:156885009|SNOMEDCT_US_2016_09_01:156887001|SNOMEDCT_US_2016_09_01:203926007|SNOMEDCT_US_2016_09_01:268306009|SNOMEDCT_US_2016_09_01:89369001 C0265970 Porokeratosis, disseminated superficial actinic DSAP - Disseminated superficial actinic porokeratosis | Disseminated Superficial Actinic Porokeratosis | Disseminated superficial actinic porokeratosis | Disseminated superficial actinic porokeratosis (DSAP) | Disseminated superficial actinic porokeratosis (disorder) | Porokeratosis, Disseminated Superficial Actinic | Porokeratosis, disseminated superficial actinic type | disseminated superficial actinic porokeratosis | disseminated superficial actinic porokeratosis (DSAP) | disseminated superficial actinic porokeratosis (DSAP) (diagnosis) ICD10CM_2017:L56.5|ICD9CM_2014:692.75|MSH2017_2016_08_12:D017499|OMIM2016_04_17:MTHU048679|SNOMEDCT_US_2016_09_01:201086003|SNOMEDCT_US_2016_09_01:41495000 C1849185 Elevated 7-dehydrocholesterol Elevated 7-dehydrocholesterol | Elevated levels of cholesta-5,7-dien-3beta-ol HPO2016_07_04:Elevated 7-dehydrocholesterol levels. [HPO:probinson] HPO2016_07_04:HP:0010569|OMIM2016_04_17:MTHU009431 C1863353 Hypoplastic vertebral bodies Hypoplastic vertebral bodies | Small vertebrae | Small vertebral bodies | obsolete Small vertebral bodies HPO2016_07_04:HP:0002773|HPO2016_07_04:HP:0008479|OMIM2016_04_17:MTHU010456|OMIM2016_04_17:MTHU013323|OMIM2016_04_17:MTHU019768 C0018543 Halogenoderma Halodermia | Halodermia, NOS | Halogenoderma | Halogenoderma (disorder) | Halogenoderma, NOS SNOMEDCT_US_2016_09_01:37218007 C0221023 Cyclic neutropenia AGRANULOCYTOSIS, CYCLIC | CH | CN | CYCLIC HEMATOPOIESIS | CYCLIC NEUTROPENIA | Cyclic Agranulocytosis | Cyclic Hematopoiesis | Cyclic Neutropenia | Cyclic haematopoiesis | Cyclic hematopoiesis | Cyclic neutropenia | Cyclic neutropenia (disorder) | Cyclical neutropaenia | Cyclical neutropenia | Cyclical neutropenia (disorder) | DYSPLASIA, MYELOCYTIC PERIODIC | Dysplasia, Myelocytic Periodic | LEUKOPENIA, CYCLIC | NEUTROPENIA, CYCLIC | Neutropenia, cyclic | PERIODIC NEUTROPENIA | Periodic Neutropenia | Periodic neutropenia | cyclic hematopoiesis | cyclic hematopoiesis (diagnosis) | cyclic neutropenia | cyclic neutropenia (diagnosis) | cyclical neutropenia | neutropenia cyclic | neutropenia periodic | periodic neutropenia | periodic neutropenia (diagnosis) NCI2016_02D:A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever. | NCI2016_NCI-GLOSS_1602D:A chronic condition that affects neutrophils (a type of white blood cell). In cyclic neutropenia, the number of neutrophils in the blood goes in cycles from normal to low and back to normal again. Symptoms include fever, inflamed mucous membranes in the mouth, and infections. | NCI2016_NICHD_1602D:A hematologic disorder caused by a mutation in the ELANE (ELA2) gene. Clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever. ICD10CM_2017:D70.4|ICD9CM_2014:288.02|MSH2017_2016_08_12:C536227|OMIM2016_04_17:130130|OMIM2016_04_17:162800|SNOMEDCT_US_2016_09_01:191347008|SNOMEDCT_US_2016_09_01:234575007|SNOMEDCT_US_2016_09_01:69295006 C3536566 Complex partial status epilepticus, intractable Complex partial status epilepticus, intractable | Complex partial status epilepticus, refractory | Complex partial status epilepticus, refractory (disorder) | Psychomotor status, refractory SNOMEDCT_US_2016_09_01:434501000124107 C0156279 Urethra syndrome URETHRA SYNDROME | Urethral syndrome | Urethral syndrome (disorder) | Urethral syndrome NOS | Urethral syndrome NOS (disorder) | Urethral syndrome, NOS | Urethral syndrome, unspecified | syndrome urethral | syndrome; urethral | urethra syndrome | urethral syndrome | urethral syndrome (diagnosis) | urethral; syndrome ICD10CM_2017:N34.3|ICD9CM_2014:597.81|SNOMEDCT_US_2016_09_01:155893003|SNOMEDCT_US_2016_09_01:197906006|SNOMEDCT_US_2016_09_01:266633007|SNOMEDCT_US_2016_09_01:31273004 C4023719 Spontaneous rupture of the globe Spontaneous rupture of the globe HPO2016_07_04:Rupture of the eyeball not due to trauma. [HPO:probinson] HPO2016_07_04:HP:0010727 C0856061 Pruritus ani aggravated Pruritus ani aggravated C0013390 Dysmenorrhea CRAMPS MENSTRUAL | Cramp(s);menstrual | Cramps menstrual | DYSMENORRHEA | DYSMENORRHOEA | Dymenorrhea [dup] (finding) | Dysmenorrhea | Dysmenorrhea (disorder) | Dysmenorrhea (finding) | Dysmenorrhea (finding) [Ambiguous] | Dysmenorrhea [Disease/Finding] | Dysmenorrhea, NOS | Dysmenorrhea, unspecified | Dysmenorrheas | Dysmenorrhoea | Dysmenorrhoea (disorder) | Dysmenorrhoea (finding) | Dysmenorrhoea, NOS | Dysmenorrhoea, unspecified | MENSES PAINFUL | MENSTRUAL CRAMP | MENSTRUAL CRAMPS | MENSTRUAL PAIN | Menorrhalgia | Menses painful | Menstrual Pain | Menstrual Pains | Menstrual cramp | Menstrual cramp (finding) | Menstrual cramps | Menstrual pain | Menstruation, Painful | Menstruations, Painful | PAIN MENSTRUAL | PAINFUL MENSES | Pain menstrual | Pain, Menstrual | Pain;menstruation | Painful Menstruation | Painful Menstruations | Painful menorrhea | Painful menorrhea (disorder) | Painful menorrhoea | Painful menstruation | Painful periods | Pains, Menstrual | Period pain | Period pain present | Period pain present (finding) | Period pains | dysmenorrhea | dysmenorrhea (diagnosis) | dysmenorrhoea | menorrhalgia | menstrual cramp | menstrual cramps | menstrual pain | menstrual pains | menstruation pain | menstruation; pain | pain; menstruation | painful menses | painful menstruation | painful period | painful periods | painful; menstruation | severe menstrual pain | severe menstrual pain (dysmenorrhea) | severe menstrual pain (symptom) HPO2016_07_04:Pain during menstruation that interferes with daily activities. [ISBN:0-7216-0179-0] | MSH2017_2016_08_12:Painful menstruation. | NCI2016_02D:Abnormally painful abdominal cramps during menstruation. | NCI2016_CTCAE_1602D:A disorder characterized by abnormally painful abdominal cramps during menses. | NCI2016_NICHD_1602D:Pain with menstruation. | PSY2004:Difficult and painful menstruation. HPO2016_07_04:HP:0100607|ICD10CM_2017:N94.6|ICD9CM_2014:625.3|MSH2017_2016_08_12:D004412|SNOMEDCT_US_2016_09_01:156025005|SNOMEDCT_US_2016_09_01:156030009|SNOMEDCT_US_2016_09_01:198404001|SNOMEDCT_US_2016_09_01:237135001|SNOMEDCT_US_2016_09_01:266599000|SNOMEDCT_US_2016_09_01:266667002|SNOMEDCT_US_2016_09_01:289900009|SNOMEDCT_US_2016_09_01:29837005|SNOMEDCT_US_2016_09_01:367433008|SNOMEDCT_US_2016_09_01:431416001 C0042932 Animal vocalizations ANIMAL VOCALIZATIONS | Animal Singing | Animal Singings | Animal Vocalization | Animal Vocalizations | Animal vocalisation | Animal vocalization | Animal vocalization (function) | Animal vocalization (observable entity) | Animal vocalization, NOS | Animal vocalization, function (observable entity) | Singing, Animal | Singings, Animal | Vocalization, Animal | Vocalizations (Animal) | Vocalizations, Animal MSH2017_2016_08_12:Sounds used in animal communication. | MSHNOR2016:Lyd anvendt i dyrs kommunikasjon. MSH2017_2016_08_12:D014828|SNOMEDCT_US_2016_09_01:40340001 C1335303 Pancreatic foamy gland adenocarcinoma Pancreatic Foamy Gland Adenocarcinoma NCI2016_02D:A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm. C1856057 Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type HMAE | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE | Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type | METHYLCOBALAMIN DEFICIENCY, cblE TYPE | Methylcobalamin Deficiency, CblE Type | VITAMIN B12-RESPONSIVE HOMOCYSTINURIA, cblE TYPE | Vitamin B12-Responsive Homocystinuria, CblE Type MSH2017_2016_08_12:C565510|OMIM2016_04_17:236270|OMIM2016_04_17:602568 C3899651 Childhood nasal cavity carcinoma Childhood Nasal Cavity Carcinoma NCI2016_02D:A rare carcinoma of the nasal cavity that occurs during childhood. C0155461 Myringitis bullous BULLOUS MYRINGITIS | Bullous Myringitis | Bullous myringitis | Bullous myringitis (disorder) | MYRINGITIS BULLOUS | Myringitis bullosa | Myringitis bullosa haemorrhagica | Myringitis bullosa hemorrhagica | Myringitis bullous | bullous myringitis | bullous; myringitis | myringitis bullosa | myringitis bullous | myringitis bullous (diagnosis) | myringitis; bullous ICD10CM_2017:H73.01|ICD9CM_2014:384.01|SNOMEDCT_US_2016_09_01:33528003 C1843921 Postural instability Postural instability HPO2016_07_04:HP:0002172|OMIM2016_04_17:MTHU003334 C0205700 Asymmetric septal hypertrophy ASH | ASYMMETRIC SEPTAL HYPERTROPHY | Asymmetric Septal Hypertrophy | Asymmetric septal hypertrophy | ash | asymmetric cardiac septal hypertrophy | asymmetric cardiac septal hypertrophy (diagnosis) | asymmetric septal hypertrophy | asymmetric septal hypertrophy (ASH) CSP2006:myocardial disease characterized by general increase in bulk of the myocardium due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells; involving mainly the interventricular septum, interfering with left ventricular emptying. | HPO2016_07_04:Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. [HPO:probinson, pmid:17916581] HPO2016_07_04:HP:0001670|OMIM2016_04_17:192600|OMIM2016_04_17:MTHU011222 C1849112 Spastic quadriplegia-retinitis pigmentosa-mental retardation syndrome SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION | Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation | spastic quadriplegia-retinitis pigmentosa-mental retardation syndrome JABL99:Quadriplegia in association with mental retardation, retinitis pigmentosa, and impaired hearing. MSH2017_2016_08_12:C564808|OMIM2016_04_17:270950 C0037355 Smallpox vaccines SMALLPOX VACCINE | Smallpox Vaccine | Smallpox Vaccine [Chemical/Ingredient] | Smallpox vaccine | Smallpox vaccine (product) | Smallpox vaccine (substance) | Vaccine, Smallpox | Var/Vac | smallpox | smallpox vaccine | smallpox vaccine (medication) | smallpox vaccine,live | smallpox vaccines | vaccines viral smallpox | vaccinia (smallpox) vaccine CSP2006:frequently a live vaccinia virus vaccine of calf lymph or chick embryo origin, used for immunization against smallpox. | HL7V3.0_2015_07:smallpox vaccine
| MSH2017_2016_08_12:A live VACCINIA VIRUS vaccine of calf lymph or chick embryo origin, used for immunization against smallpox. It is now recommended only for laboratory workers exposed to smallpox virus. Certain countries continue to vaccinate those in the military service. Complications that result from smallpox vaccination include vaccinia, secondary bacterial infections, and encephalomyelitis. (Dorland, 28th ed) MSH2017_2016_08_12:D012900|SNOMEDCT_US_2016_09_01:33234009|SNOMEDCT_US_2016_09_01:396439006 C0271508 Diplacusis, disharmonic Diplacusis, disharmonic | Disharmonic diplacusis | Disharmonic diplacusis (disorder) | Disharmonic diplacusis (finding) SNOMEDCT_US_2016_09_01:61444009 C1833102 Diabetes mellitus, permanent neonatal, with neurologic features DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES | Diabetes Mellitus, Permanent Neonatal, With Neurologic Features MSH2017_2016_08_12:C563424|OMIM2016_04_17:600509|OMIM2016_04_17:600937|OMIM2016_04_17:606176 C3665624 Serum calcium below normal Blood calcium decreased | CALCIUM BLOOD DECREASED | Calcium blood decreased | Hypocalcemia | Serum calcium below normal | Serum calcium below normal (finding) OMIM2016_04_17:MTHU036379 C0748306 Renal failure intrinsic RENAL FAILURE INTRINSIC C1333593 Fallopian tube gestational choriocarcinoma Fallopian Tube Gestational Choriocarcinoma | Gestational Choriocarcinoma of Fallopian Tube | Gestational Choriocarcinoma of the Fallopian Tube NCI2016_02D:A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy. C4280404 Notch of lower alveolar process Notch of lower alveolar process | Notch of mandibular alveolar process HPO2016_07_04:HP:0009094 C0406756 Keratolytic winter erythema Erythrokeratolysis hiemalis | Erythrokeratolysis hiemalis ichthyosis | KERATOLYTIC WINTER ERYTHEMA | KWE | Keratolytic winter erythema | Keratolytic winter erythema (disorder) | OUDTSHOORN SKIN DISEASE | Oudtshoorn disease | Oudtshoorn skin | Winter erythrokeratolysis MSH2017_2016_08_12:C536155|OMIM2016_04_17:148370|SNOMEDCT_US_2016_09_01:239064000 C4015405 Bleeding disorder, platelet-type, 19 BDPLT19 | BLEEDING DISORDER, PLATELET-TYPE, 19 OMIM2016_04_17:616176 C4022989 Absent outer dynein arms Absent outer dynein arms HPO2016_07_04:Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. [HPO:probinson, pmid:19606528] HPO2016_07_04:HP:0012256 C0221260 Dystrophia unguium Claw deformed | Dystrophia unguium | Dystrophia unguium (disorder) | Dystrophic claw | Dystrophic nail | Dystrophic nails | NAIL DYSTROPHY | Nail Dystrophies | Nail deformed | Nail dystrophy | Onychodystrophy | Poor nail formation | dystrophic nail | dystrophic nails | dystrophy; nail | nail dystrophy | nail dystrophy (physical finding) | nail dystrophy was noted | nail; dystrophy | nails onychodystrophy | onychodystrophy | onychodystrophy (physical finding) | onychodystrophy was noted HPO2016_07_04:Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. [pmid:19675700] | NCI2016_02D:Deformity or discoloration of a fingernail or toenail.(NICHD) | NCI2016_NICHD_1602D:Deformity or discoloration of a fingernail or toenail. HPO2016_07_04:HP:0008404|ICD10CM_2017:L60.3|OMIM2016_04_17:MTHU036408|OMIM2016_04_17:MTHU036415|OMIM2016_04_17:MTHU036684|SNOMEDCT_US_2016_09_01:87065009 C1832510 Myeloid tumor suppressor MLRL | MYELOID LEUKEMIA-RELATED LOCUS | MYELOID TUMOR SUPPRESSOR OMIM2016_04_17:601308 C0274417 Complication hemodialysis Complication of haemodialysis | Complication of hemodialysis | Complication of hemodialysis (disorder) | Haemodialysis complication | Hemodialysis complication | complication hemodialysis | complication of hemodialysis | complications haemodialysis | complications hemodialysis | hemodialysis complication SNOMEDCT_US_2016_09_01:85223007 C1335255 Pretext stage 1 hepatoblastoma PRETEXT Stage 1 Hepatoblastoma NCI2016_02D:An internationally developed presurgical anatomic staging system using imaging techniques: Tumor involves only 1 quadrant; 3 adjoining liver quadrants are free of tumor. (from PDQ 2004) C0265407 Chromosome 4 ring syndrome (4)r syndrome | Ring chromosome 4 syndrome | Ring chromosome 4 syndrome (diagnosis) | Ring chromosome 4 syndrome (disorder) | anomaly of chromosome pair ring 4 syndrome | chromosome 4 ring syndrome | r(4) syndrome | ring chromosome 4 syndrome JABL99:A syndrome in which parts of both ends of chromosome 4 have been lost (deletion) and the two broken ends reunited to form a ring-shaped figure. Clinical manifestations vary according to the breakpoints and their distance to the telomeres and include developmental delay and neurological, craniofacial, skeletal, genitourinary, and cutaneous anomalies, some of which overlap those of Seckel and Wolf-Hirschhorn syndromes. MSH2017_2016_08_12:C537636|SNOMEDCT_US_2016_09_01:81678004 C4225154 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3 | CEMCOX3 OMIM2016_04_17:616500 C0439840 Reflex motion descriptor Reflex motion descriptor | reflex GO2016_05_01:An automatic response to a stimulus beginning with a nerve impulse from a receptor and ending with the action of an effector such as a gland or a muscle. Signaling never reaches a level of consciousness. [GOC:dph, ISBN:087797099] C2227090 Hyperplasia of the maxilla Big maxilla | Big upper jaw | Hyperplasia of the maxilla | Hyperplasia of upper jaw | Increased size of maxilla | Increased size of upper jaw | Large maxilla | Large upper jaw | MAXILLARY HYPERPLASIA | Major anomalies of jaw size, maxillary hyperplasia | Maxillary excess | Maxillary hyperplasia | Maxillary prominence | Overgrowth of the maxilla | Prominent maxilla | Prominent upper jaw | Upper jaw bone excess | Upper jaw excess | hyperplasia; maxilla | hyperplasia; upper jaw | maxilla; hyperplasia | maxillary excess | maxillary excess (physical finding) | maxillary hyperplasia | maxillary hyperplasia (diagnosis) | upper jaw; hyperplasia HPO2016_07_04:Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. [] HPO2016_07_04:HP:0430028|ICD10CM_2017:M26.01|ICD9CM_2014:524.01|OMIM2016_04_17:MTHU032655 C0393847 Multifocal motor neuropathy MMN | MMN - Motor neuropathy with multiple conduction block | Motor neuropathy with multiple conduction block | Motor neuropathy with multiple conduction block (disorder) | Multifocal motor neuropathy ICD10CM_2017:G61.82|SNOMEDCT_US_2016_09_01:230591002 C0345836 Cancer of ileum Cancer of ILEUM | Cancer of the ILEUM | Cancer, Ileal | Cancers, Ileal | ILEUM Cancer | ILEUM Cancers | Ileal Cancer | Ileal Cancers | Ileal cancer | cancer of ileum | ileum cancer MSH2017_2016_08_12:D007078 C0019345 Herpes labialis Blister, Fever | Blisters, Fever | COLD SORE | Cold Sore | Cold Sores | Cold sore | Cold sore (herpetic) | Cold sores | Cold sores lip | FEVER BLISTER | FEVER SORE | Fever Blister | Fever Blisters | Fever blister | Fever sore | HERPES LABIALIS | Herpes Labialis | Herpes Labialis [Disease/Finding] | Herpes Simplex, Labial | Herpes labialis | Herpes labialis (disorder) | Herpes on lip | Herpes simplex labialis | Labial Herpes Simplex | Sore, Cold | Sores, Cold | blister fever | cold sore | cold sores | coldsore | febrilis; herpes | fever blister | fever blisters | fever sore | fever sores | herpes febrilis | herpes labialis | herpes lip | herpes lips | herpes on lip | herpes simplex labialis | herpes simplex labialis (diagnosis) | herpes; febrilis | herpes; labialis | herpes; lip | labialis; herpes | lip cold sore | lip cold sores | lip herpes | lip; herpes MEDLINEPLUS_20151021:Cold sores are caused by a contagious virus called herpes simplex. There are two types of herpes simplex virus. Type 1 usually causes oral herpes, or cold sores. Type 1 herpes virus infects more than half of the U.S. population by the time they reach their 20s. Type 2 usually affects the genital area
Some people have no symptoms from the infection. But others develop painful and unsightly cold sores that last for a week or more. Cold sores usually occur outside the mouth -- on the lips, chin, and cheeks, or in the nostrils. When they do occur inside the mouth, it is usually on the gums or the roof of the mouth.
There is no cure for cold sores. Medicines can relieve some of the pain and discomfort associated with the sores. These include ointments that numb the blisters, antibiotics that control secondary bacterial infections, and ointments that soften the crusts of the sores.
| MSH2017_2016_08_12:Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.) | NCI2016_02D:A lesion caused by type 1 or type 2 herpes simplex virus, involving the oralfacial region. ICD10CM_2017:B00.1|MSH2017_2016_08_12:D006560|SNOMEDCT_US_2016_09_01:1475003|SNOMEDCT_US_2016_09_01:154336005|SNOMEDCT_US_2016_09_01:186540009|SNOMEDCT_US_2016_09_01:186548002|SNOMEDCT_US_2016_09_01:186556004 C0917805 Transient cerebral ischemia CEREBRAL ISCHEMIA, TRANSIENT | CEREBRAL ISCHEMIA, TRANSITORY | Cerebral Ischemia, Transient | Cerebral Ischemias, Transient | Ischemia, Transient Cerebral | Ischemia, transient, cerebral | Ischemias, Transient Cerebral | Mini stroke | Mini-Stroke | Mini-stroke | TIA | Transient Cerebral Ischemia | Transient Cerebral Ischemias | Transient cer. ischaem. | Transient cer. ischem. | Transient cerebral ischaem.NOS | Transient cerebral ischaemia | Transient cerebral ischaemia NOS | Transient cerebral ischaemia, NOS | Transient cerebral ischemia | Transient cerebral ischemia NOS | Transient cerebral ischemia NOS (disorder) | Transient cerebral ischemia, NOS | Transient ischemic attack | Transient ischemic attacks | Unspecified transient cerebral ischaemia | Unspecified transient cerebral ischemia | cerebral; ischemic, transient | intermittent cerebral ischemia | ischemia; cerebral, transient | transient cerebral ischemia HPO2016_07_04:HP:0002326|ICD10CM_2017:G45.9|ICD9CM_2014:435|ICD9CM_2014:435.9|MSH2017_2016_08_12:D002546|SNOMEDCT_US_2016_09_01:155404005|SNOMEDCT_US_2016_09_01:195204002|SNOMEDCT_US_2016_09_01:266314007 C0239803 Red hair Ginger hair color | HAIR, RED | Red Hair | Red hair | Red hair (finding) | Red hair color | Red head (hair color) | current hair color red | current hair color red (physical finding) | hair red | red hair | the current hair color is red HPO2016_07_04:HP:0002297|OMIM2016_04_17:MTHU007725|OMIM2016_04_17:MTHU016873|SNOMEDCT_US_2016_09_01:297997007 C1847319 Paraganglioma and gastric stromal sarcoma CARNEY-STRATAKIS SYNDROME | Carney dyad | Carney-Stratakis Syndrome | Carney-Stratakis dyad | Carney-Stratakis syndrome | GIST | PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA | PARAGANGLIOMA AND GASTROINTESTINAL STROMAL TUMOR | Paraganglioma and Gastric Stromal Sarcoma | Paraganglioma and Gastrointestinal Stromal Tumor NCI2016_02D:A rare, autosomal dominant inherited neoplastic syndrome caused by mutations in the genes that code the succinate dehydrogenase protein complex. It is charcaterized by the presence of gastrointestinal stromal tumors and paragangliomas. | NCI2016_NCI-GLOSS_1602D:A rare, inherited disorder marked by tumors of the gastrointestinal tract and tumors that form in embryonic nervous tissue in the head, neck, and torso. MSH2017_2016_08_12:C564650|OMIM2016_04_17:185470|OMIM2016_04_17:602413|OMIM2016_04_17:602690|OMIM2016_04_17:606864 C1291386 D-glycericacidemia D-GLYCERIC ACIDEMIA | D-Glycerate kinase deficiency | D-Glyceric Acidemia | D-glycericacidemia | Glycerate Kinase Deficiency ICD10CM_2017:E72.59|MSH2017_2016_08_12:C535767|OMIM2016_04_17:220120 C0152419 Interrupted aortic arch Atretic transverse aortic arch | IAA - Interrupted aortic arch | INTERRUPTED AORTIC ARCH | Interrupted Aortic Arch | Interrupted aortic arch | Interrupted aortic arch (disorder) | Interrupted aortic arch [Ambiguous] | Interruption of aortic arch | Interruption of aortic arch (disorder) | an interrupted aortic arch | aortic arch interruption | interrupted aortic arch | interrupted aortic arch (diagnosis) HPO2016_07_04:Non-continuity of the arch of aorta with an atretic point or absent segment. [DDD:dbrown] | NCI2016_02D:A rare congenital cardiovascular disorder characterized by the presence of a gap between the ascending and descending portions of the thoracic aorta. This disorder is often associated with ventricular septal defect, ductus arteriosus, or truncus arteriosus. HPO2016_07_04:HP:0011611|ICD10CM_2017:Q25.21|ICD9CM_2014:747.11|OMIM2016_04_17:217095|OMIM2016_04_17:600584|OMIM2016_04_17:MTHU015284|SNOMEDCT_US_2016_09_01:204418002|SNOMEDCT_US_2016_09_01:218728005|SNOMEDCT_US_2016_09_01:39042006 C1320317 African tick typhus AFRICAN TICK TYPHUS | African tick bite fever | African tick bite fever (disorder) | African tick typhus | African tick typhus (disorder) | African tick-borne fever | FEVER, SOUTH AFRICAN TICK BITE | Kenya tick typhus | Kenya tick typhus (diagnosis) | Kenya; fever | Kenya; spotted fever | Kenyan tick typhus | Kenyan tick typhus (disorder) | South African tick fever | South African tick fever (diagnosis) | South African tick typhus | South African tick-bite fever | South African tick-bite fever (disorder) | South African; tick-bite fever | fever; Kenya | spotted fever; Kenya | tick-bite; fever, South African ICD10CM_2017:A77.1|SNOMEDCT_US_2016_09_01:186774005|SNOMEDCT_US_2016_09_01:266118003|SNOMEDCT_US_2016_09_01:406558002|SNOMEDCT_US_2016_09_01:414554006|SNOMEDCT_US_2016_09_01:415561000|SNOMEDCT_US_2016_09_01:59742009 C0023351 Tuberculoid leprosy Full tuberculoid leprosy | Leprosies, Tuberculoid | Leprosy, Tuberculoid | Leprosy, Tuberculoid [Disease/Finding] | Mycobacterium leprae infection (tuberculoid) | Smooth leprosy | TT - Full tuberculoid leprosy | TT leprosy | TT; leprosy | TUBERCULOID LEPROSY | Tuberculoid Hansen's disease (leprosy) | Tuberculoid Leprosies | Tuberculoid Leprosy | Tuberculoid leprosy | Tuberculoid leprosy (disorder) | Tuberculoid leprosy (type t) | Tuberculoid leprosy [type T] | Type T leprosy | Type TT leprosy | leprosy tuberculoid | leprosy; TT | leprosy; tuberculoid | tuberculoid leprosy | tuberculoid leprosy (diagnosis) | tuberculoid; leprosy MSH2017_2016_08_12:A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others. ICD10CM_2017:A30.1|ICD9CM_2014:030.1|MSH2017_2016_08_12:D015441|SNOMEDCT_US_2016_09_01:70143003 C1541646 Spirituality therapy spirituality | spirituality therapy C1333082 Adenosquamous carcinoma of colon Adenosquamous Carcinoma of Colon | Adenosquamous Carcinoma of the Colon | Adenosquamous Colon Carcinoma | Colon Adenosquamous Carcinoma | Colonic Adenosquamous Carcinoma NCI2016_02D:An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. C3896578 Familial colorectal cancer type x FCCTX | Familial Colorectal Cancer Type X NCI2016_02D:Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes. C1843153 Charcot-marie-tooth disease, type 2j CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J | CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, WITH HEARING LOSS AND PUPILLARY ABNORMALITIES | CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J | CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J | CMT 2J | CMT2J | Charcot-Marie-Tooth Neuropathy, Type 2j | Charcot-Marie-Tooth disease type 2J | Charcot-Marie-Tooth disease type 2J (diagnosis) | Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities | Charcot-Marie-Tooth disease, Type 2J | Charcot-Marie-Tooth disease, axonal, Type 2J | Cmt2j MSH2017_2016_08_12:C535417|OMIM2016_04_17:159440|OMIM2016_04_17:607736 C1853488 Thyroid carcinoma, nonmedullary 1 Nonmedullary Thyroid Carcinoma 1 | Thyroid Carcinoma, Nonmedullary 1 MSH2017_2016_08_12:C565247 C1005359 Pica pica bird Genus Pica | Genus Pica (organism) | Magpies | Pica | pica pica bird NCBI2016_03_21:34923|SNOMEDCT_US_2016_09_01:423790006 C1836576 Silver-gray hair Silver-gray hair | Silver-gray hair color | Silvery-gray hair HPO2016_07_04:Hypopigmented hair that appears silver-gray. [HPO:probinson] HPO2016_07_04:HP:0002218|OMIM2016_04_17:MTHU001090|OMIM2016_04_17:MTHU010634 C2750078 Hypophosphatemic rickets, autosomal recessive, 2 ARHR2 | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 | Hypophosphatemic Rickets, Autosomal Recessive, 2 MSH2017_2016_08_12:C567647|OMIM2016_04_17:173335|OMIM2016_04_17:613312 C4280554 Increased diameter of foramen magnum Increased diameter of foramen magnum HPO2016_07_04:HP:0002700 C0030044 Acrocephaly ACROCEPHALY | Acrocephaly | Acrocephaly (disorder) | Egg-shaped skull | Elongated skull | High skull | High skull (finding) | Oxycephaly | Tall shaped cranium | Tall shaped head | Tall shaped skull | Tower cranium shape | Tower skull | Tower skull shape | Turricephaly | acrocephalic skull | acrocephalic skull (physical finding) | acrocephaly | acrocephaly was observed | elongated skull | oxycephaly | oxycephaly (physical finding) | oxycephaly was noted | skull elongated | skull elongated (physical finding) | tower skull | turricephaly HPO2016_07_04:Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull. [HPO:curators] | HPO2016_07_04:Tall head relative to width and length. [pmid:19125436] | MSH2017_2016_08_12:Premature closing of the lambdoid and coronal sutures. HPO2016_07_04:HP:0000262|HPO2016_07_04:HP:0000263|ICD10CM_2017:Q75.0|MSH2017_2016_08_12:D003398|OMIM2016_04_17:MTHU005699|OMIM2016_04_17:MTHU008313|SNOMEDCT_US_2016_09_01:205413001|SNOMEDCT_US_2016_09_01:205415008|SNOMEDCT_US_2016_09_01:48069004 C1335572 Leiomyosarcoma of pulmonary artery Leiomyosarcoma of Pulmonary Artery | Leiomyosarcoma of the Pulmonary Artery | Pulmonary Artery Leiomyosarcoma NCI2016_02D:An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells. C1290782 Verrucous hyperplasia of oral mucosa Verrucous hyperplasia of oral mucosa | Verrucous hyperplasia of oral mucosa (disorder) SNOMEDCT_US_2016_09_01:109785005 C2930806 Stomatodynia Stomatodynia MSH2017_2016_08_12:C531639 C1858301 Leber congenital amaurosis 5 Amaurosis congenita of Leber, type 5 | LCA5 | LEBER CONGENITAL AMAUROSIS 5 | Leber Congenital Amaurosis 5 | Leber congenital amaurosis, type 5 MSH2017_2016_08_12:C536602|OMIM2016_04_17:604537|OMIM2016_04_17:611408 C0014236 Endophthalmitis ENDOPHTHALMITIS | EYE INFLAMMATION | Endophthalmitides | Endophthalmitis | Endophthalmitis (disorder) | Endophthalmitis [Disease/Finding] | Endophthalmitis, NOS | Eye inflammation | Eye inflammation NOS | Eye--Inflammation | Inflammation;eye | Inflammatory disorder of the eye | Inflammatory disorder of the eye (disorder) | OPHTHALMITIS | Ophthalmia | Ophthalmia, NOS | Ophthalmias | Ophthalmitis | Ophthalmitis (disorder) | Ophthalmitis -RETIRED- | Ophthalmitis, NOS | disease (or disorder); eye, inflammatory | endophthalmitis | endophthalmitis (diagnosis) | eye inflammation | eye inflammations | eye; disorder, inflammatory | eyes inflammation | inflammation eye | inflammation of the eye | ophthalmia MSH2017_2016_08_12:Suppurative inflammation of the tissues of the internal structures of the eye frequently associated with an infection. | NCI2016_02D:An infectious process affecting the internal structures of the eye. | NCI2016_CTCAE_1602D:A disorder characterized by an infectious process involving the internal structures of the eye. | NCI2016_NICHD_1602D:Inflammation of the intraocular space, usually due to infection. MSH2017_2016_08_12:D009877|SNOMEDCT_US_2016_09_01:123052006|SNOMEDCT_US_2016_09_01:128295000|SNOMEDCT_US_2016_09_01:1847009|SNOMEDCT_US_2016_09_01:82255004 C0546952 Congenital facial asymmetry Congenital asymmetry of face | Congenital facial asymmetry | Congenital facial asymmetry (disorder) | Facial asymmetry | congenital deformity facial asymmetry | congenital facial asymmetry | congenital facial asymmetry (diagnosis) ICD10CM_2017:Q67.0|SNOMEDCT_US_2016_09_01:13851000119109 C3807327 Advanced sleep phase syndrome, familial, 1 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 | FASPS1 OMIM2016_04_17:603426|OMIM2016_04_17:604348 C1855311 Megacystis Megacystis HPO2016_07_04:Dilatation of the bladder postnatally. [HPO:probinson] HPO2016_07_04:HP:0000021|MSH2017_2016_08_12:C536139 C1274700 Postmenopausal frontal fibrosing alopecia Frontal fibrosing alopecia | Postmenopausal frontal fibrosing alopecia | Postmenopausal frontal fibrosing alopecia (disorder) SNOMEDCT_US_2016_09_01:403325003 C4015323 Leukodystrophy, hypomyelinating, 9 HLD9 | LEUKODYSTROPHY, HYPOMYELINATING, 9 OMIM2016_04_17:107820|OMIM2016_04_17:616140 C0271560 Lymphocytic hypopituitarism Lymphocytic hypophysitis | Lymphocytic hypopituitarism | Lymphocytic hypopituitarism (disorder) | lymphocytic hypophysitis | lymphocytic hypophysitis (diagnosis) SNOMEDCT_US_2016_09_01:61701006 C1843765 Migraine with or without aura, susceptibility to, 6 MGR6 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6 OMIM2016_04_17:607516 C0282525 Adrenoleukodystrophy, neonatal Adrenoleukodystrophies, Neonatal | Adrenoleukodystrophy, Autosomal Neonatal Form | Adrenoleukodystrophy, Autosomal, Neonatal Form | Adrenoleukodystrophy, Neonatal | Neonatal Adrenoleukodystrophies | Neonatal Adrenoleukodystrophy | Neonatal adrenoleucodystrophy | Neonatal adrenoleucodystrophy (disorder) | Neonatal adrenoleukodystrophy | adrenoleukodystrophy neonatal | neonatal adrenoleukodystrophy | neonatal adrenoleukodystrophy (diagnosis) NCI2016_02D:A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma. ICD10CM_2017:E71.511|MSH2017_2016_08_12:D018901|SNOMEDCT_US_2016_09_01:238061001 C0037313 Sleep Sleep | Sleep (biological function) (observable entity) | Sleep (biological function) [Ambiguous] | Sleep (qualifier value) | Sleep functions | Sleep functions, unspecified | Sleep, NOS | Sleep, function | Sleep, function (observable entity) | Sleeping | sleep | sleeping | sleeps CSP2006:period of rest for the body and mind during which volition and consciousness are in partial or complete abeyance and bodily functions are partially suspended; a behavioral state marked by a characteristic immobile posture and diminished but readily reversible sensitivity to external stimuli. | GO2016_05_01:Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain. [ISBN:0192800981] | ICF-CY_2008:General mental functions of periodic, reversible and selective physical and mental disengagement from one's immediate environment accompanied by characteristic physiological changes. | ICF_2008_12_19:General mental functions of periodic, reversible and selective physical and mental disengagement from one's immediate environment accompanied by characteristic physiological changes. | MSH2017_2016_08_12:A readily reversible suspension of sensorimotor interaction with the environment, usually associated with recumbency and immobility. | NCI2016_02D:A natural and periodic state of rest during which consciousness of the world is suspended.(WordNet) | NOC3:Natural periodic suspension of consciousness during which the body is restored MSH2017_2016_08_12:D012890|SNOMEDCT_US_2016_09_01:258158006|SNOMEDCT_US_2016_09_01:86636006 C1865143 Branchiootic syndrome 1 BO SYNDROME 1 | BO syndrome 1 | BOS1 | BRANCHIOOTIC DYSPLASIA | BRANCHIOOTIC SYNDROME 1 | Bos1 | Branchiootic Syndrome 1 | Branchiootic dysplasia | Branchiootic syndrome MSH2017_2016_08_12:C537104|OMIM2016_04_17:601653|OMIM2016_04_17:602588 C3551431 Sparse or absent eyelashes Eyelashes sparse or absent | Sparse or absent eyelashes HPO2016_07_04:HP:0200102|OMIM2016_04_17:MTHU038565|OMIM2016_04_17:MTHU046825 C1332220 Adult xanthogranuloma Adult Xanthogranuloma C2750604 Median cleft lip/palate Central cleft lip and palate | Medial cleft lip and palate | Median cleft lip and palate | Median cleft lip/palate | Midline cleft lip/palate | Wide midline cleft lip/palate HPO2016_07_04:Cleft lip or palate affecting the midline region of the palate. [HPO:sdoelken] HPO2016_07_04:HP:0008501|OMIM2016_04_17:MTHU026554 C0153439 Malignant neoplasm of ascending colon Ascending colon cancer | COLON ASCENDING CANCER | Ca ascending colon | Ca ascending colon (disorder) | Malignant neoplasm of ascending colon | Malignant neoplasm of right colon | Malignant tumor of ascending colon | Malignant tumor of ascending colon (disorder) | Malignant tumour of ascending colon | ascending cancer colon | ascending colon cancer | cancer of ascending colon | malignant neoplasm of ascending colon | malignant neoplasm of ascending colon (diagnosis) | malignant tumor of ascending colon ICD10CM_2017:C18.2|ICD9CM_2014:153.6|SNOMEDCT_US_2016_09_01:154460005|SNOMEDCT_US_2016_09_01:269539001|SNOMEDCT_US_2016_09_01:363412000|SNOMEDCT_US_2016_09_01:93683002 C1836527 Distal sensory impairment of all modalities Distal sensory impairment of all modalities | Distal sensory loss (all modalities) | Distal sensory loss of all modalities | Distal sensory loss to all modalities HPO2016_07_04:HP:0003409|HPO2016_07_04:HP:0006984|OMIM2016_04_17:MTHU001040|OMIM2016_04_17:MTHU001808|OMIM2016_04_17:MTHU010556 C0553565 Posteruptive teeth stain. nos Post eruptive color changes of teeth | Post eruptive colour changes of teeth | Posteruptive color change of tooth | Posteruptive color change of tooth (disorder) | Posteruptive color change of tooth, NOS | Posteruptive color changes of teeth | Posteruptive colour change of tooth | Posteruptive colour change of tooth, NOS | Posteruptive colour changes of teeth | Posteruptive discoloration of tooth | Posteruptive discoloration of tooth, NOS | Posteruptive discolouration of tooth | Posteruptive discolouration of tooth, NOS | Posteruptive staining of tooth | Posteruptive staining of tooth, NOS | Posteruptive teeth stain. NOS | Posteruptive teeth staining | Posteruptive teeth staining (disorder) | Posteruptive teeth staining NOS | Posteruptive teeth staining NOS (disorder) | change; color teeth, posteruptive | color; change teeth, posteruptive | posteruptive staining of teeth | posteruptive staining of teeth (diagnosis) | teeth; change of color posteruptive SNOMEDCT_US_2016_09_01:196317007|SNOMEDCT_US_2016_09_01:196321000|SNOMEDCT_US_2016_09_01:4654002 C2676508 Porokeratosis, disseminated superficial actinic, 4 DSAP4 | POROK6 | POROKERATOSIS 6, DISSEMINATED SUPERFICIAL | POROKERATOSIS 6, MULTIPLE TYPES | POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 4 | Porokeratosis, Disseminated Superficial Actinic, 4 MSH2017_2016_08_12:C567339|OMIM2016_04_17:612353 C1839736 Wilson-turner x-linked mental retardation syndrome MENTAL RETARDATION, X-LINKED, SYNDROMIC 6 | MENTAL RETARDATION, X-LINKED, WITH GYNECOMASTIA AND OBESITY | MRXS6 | Mental retardation, X-linked, syndromic 6 | Mental retardation, X-linked, with gynecomastia and obesity | WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME | WTS | Wilson Turner mental retardation syndrome | Wilson-Turner X-linked mental retardation syndrome MSH2017_2016_08_12:C536708|OMIM2016_04_17:300269|OMIM2016_04_17:309585 C0752330 Aids arteritis, central nervous system AIDS Arteritis, Central Nervous System | AIDS Arteritis, Central Nervous System [Disease/Finding] | Central Nervous System AIDS Arteritis MSH2017_2016_08_12:Inflammation of ARTERIES in the CENTRAL NERVOUS SYSTEM that occurs in patients with ACQUIRED IMMUNODEFICIENCY SYNDROME or AIDS-RELATED OPPORTUNISTIC INFECTIONS. | MSHFRE2016:Inflammation du syst猫me vasculaire du syst猫me nerveux central retrouv茅e lors du syndrome de l'immunod茅ficience acquise. Chez les enfants, elle peut 锚tre associ茅e 脿 des an茅vrismes intra-craniens. Ces modifications sont fr茅quemment retrouv茅es lors d'infections opportunistes, telles que la varicelle, le CMV, les infections fongiques, la tuberculose et la syphilis et . (Extr. Neurol Clin 1997 Nov;15(4):927-44; Neurology 1998 Aug;51(2):560-5) MSH2017_2016_08_12:D020943 C1328514 Pigmentary retinal deposits Pigmentary retinal deposits | Retinal pigment clumping HPO2016_07_04:HP:0007702|OMIM2016_04_17:MTHU018964|OMIM2016_04_17:MTHU029031 C0153633 Malignant neoplasm of brain BRAIN NEOPLASM MALIGNANT | BRAIN TUMOR MALIGNANT | Brain Ca | Brain Cancer | Brain Cancers | Brain Malignant Neoplasm | Brain Malignant Neoplasms | Brain Neoplasm, Malignant | Brain Neoplasms, Malignant | Brain neoplasm malignant | Brain--Cancer | Cancer of Brain | Cancer of the Brain | Cancer, Brain | Cancers, Brain | Malig neop brain NOS | Malignant Brain Neoplasm | Malignant Brain Neoplasms | Malignant Brain Tumor | Malignant Neoplasm of Brain | Malignant Neoplasm of the Brain | Malignant Neoplasm, Brain | Malignant Neoplasms, Brain | Malignant Tumor of Brain | Malignant Tumor of the Brain | Malignant brain neoplasm NOS | Malignant brain tumor | Malignant brain tumour | Malignant brain tumour (disorder) | Malignant neoplasm of brain | Malignant neoplasm of brain (disorder) | Malignant neoplasm of brain NOS | Malignant neoplasm of brain NOS (disorder) | Malignant neoplasm of brain, NOS | Malignant neoplasm of brain, unspecified | Neoplasm malig;brain | Neoplasms, Brain, Malignant | brain ca | brain cancer | brain cancer (diagnosis) | brain cancers | brain malignant tumors | ca brain | cancer of brain | cancer of the brain | malignant brain tumor | malignant neoplasm of brain | malignant neoplasm of brain (diagnosis) | malignant neosplasm of the brain | malignant tumor of brain NCI2016_02D:A primary or metastatic malignant neoplasm affecting the brain. | NCI2016_NICHD_1602D:An abnormal solid mass arising within the brain with histologic features suggesting the potential to metastasize. ICD10CM_2017:C71|ICD10CM_2017:C71.9|ICD9CM_2014:191|ICD9CM_2014:191.9|MSH2017_2016_08_12:D001932|SNOMEDCT_US_2016_09_01:154550004|SNOMEDCT_US_2016_09_01:188279009|SNOMEDCT_US_2016_09_01:188305001|SNOMEDCT_US_2016_09_01:269610005|SNOMEDCT_US_2016_09_01:275464006|SNOMEDCT_US_2016_09_01:363356001|SNOMEDCT_US_2016_09_01:428061005|SNOMEDCT_US_2016_09_01:93727008 C0035112 Reoviridae infections DISEASES DUE TO REOVIRIDAE | DISEASES DUE TO REOVIRUS | Disease caused by Orthoreovirus | Disease caused by Orthoreovirus (disorder) | Disease caused by Reoviridae | Disease caused by Reoviridae (disorder) | Disease caused by Reovirus | Disease due to Orthoreovirus | Disease due to Orthoreovirus (disorder) | Disease due to Reoviridae | Disease due to Reoviridae (disorder) | Disease due to Reovirus | Disease due to Reovirus (disorder) | Disease due to Reovirus, NOS | Infection, Reoviridae | Infection, Reovirus | Infections, Reoviridae | Infections, Reovirus | Reoviridae Infection | Reoviridae Infections | Reoviridae Infections [Disease/Finding] | Reoviridae disease | Reovirus Infection | Reovirus Infections | Reovirus infection | Reovirus infection, NOS CSP2006:diseases resulting from a infection with the Reoviridae family of viruses; includes diseases such as African horse sickness, Bluetongue, Colorado tick fever, Rotavirus infections or diseases, Orbivirus infections or diseases and Cypovirus infections or diseases. | MSH2017_2016_08_12:Infections produced by reoviruses, general or unspecified. | MSHFRE2016:Infections dues 脿 des virus de la famille des Reoviridae. MSH2017_2016_08_12:D012088|SNOMEDCT_US_2016_09_01:105634001|SNOMEDCT_US_2016_09_01:28556001|SNOMEDCT_US_2016_09_01:414016004 C0079740 High grade lymphoma (neoplasm) High Grade Lymphoma | High Grade Lymphoma (neoplasm) | High-Grade Lymphoma | High-Grade Lymphomas | Lymphoma, High Grade | Lymphoma, High-Grade | Lymphomas, High-Grade | high-grade lymphoma NCI2016_NCI-GLOSS_1602D:A type of lymphoma that grows and spreads quickly and has severe symptoms. Also called aggressive lymphoma and intermediate-grade lymphoma. MSH2017_2016_08_12:D008228 C0040921 Trichomonas infections DISEASES DUE TO TRICHOMONADIDAE | Disease caused by Trichomonadidae | Disease caused by Trichomonadidae (disorder) | Disease due to Trichomonadidae | Disease due to Trichomonadidae (disorder) | Infection by Trichomonas | Infection by Trichomonas (disorder) | Infection by Trichomonas, NOS | Infection caused by Trichomonas | Infection caused by Trichomonas (disorder) | Infection, Trichomonas | Infections, Trichomonas | TRICHOMONAL INFECTION | TRICHOMONIASIS | Trich | Trichomonas Infection | Trichomonas Infections | Trichomonas Infections [Disease/Finding] | Trichomonas NOS | Trichomonas NOS (disorder) | Trichomonas infection | Trichomonas infections | Trichomonas; infection | Trichomoniasis | Trichomoniasis, unspecified | Trichomonosis | [X]Trichomoniasis, unspecified | [X]Trichomoniasis, unspecified (disorder) | infection; Trichomonas | trichomona | trichomonas | trichomonas infection | trichomoniasis | trichomoniasis (diagnosis) | trichomonosis MEDLINEPLUS_20151021:Trichomoniasis is a sexually transmitted disease caused by a parasite. You get it through sexual intercourse with an infected partner. Many people do not have any symptoms. If you do get symptoms, they usually happen within 5 to 28 days after being infected.
Symptoms in women include
Most men do not have symptoms. If they do, they may have a whitish discharge from the penis and painful or difficult urination and ejaculation.
Lab tests can tell if you have the infection. Treatment is with antibiotics. If you are infected, you and your partner must be treated. Correct usage of latex condoms greatly reduces, but does not eliminate, the risk of catching or spreading trichomoniasis.
NIH: National Institute of Allergy and Infectious Diseases
| MSH2017_2016_08_12:Infections in birds and mammals produced by various species of Trichomonas. ICD10CM_2017:A59|ICD10CM_2017:A59.9|ICD9CM_2014:131|ICD9CM_2014:131.9|MSH2017_2016_08_12:D014245|SNOMEDCT_US_2016_09_01:105648001|SNOMEDCT_US_2016_09_01:187206001|SNOMEDCT_US_2016_09_01:187364002|SNOMEDCT_US_2016_09_01:56335008 C0376538 Blue-ear pig disease Blue Eared Pig Disease | Blue-Eared Pig Disease | Mystery Swine Disease | PRRS | Pig Disease, Blue-Eared | Porcine Epidemic Abortion and Respiratory Syndrome | Porcine Reproductive and Respiratory Syndrome | Porcine Reproductive and Respiratory Syndrome [Disease/Finding] | Swine Disease, Mystery | Swine Infertility and Respiratory Syndrome | blue-ear pig disease | porcine reproductive and respiratory syndrome (PRRS) | prrs | reproductive and respiratory syndrome in pigs MSH2017_2016_08_12:A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048) | MSHFRE2016:Syndrome caract茅ris茅 par des avortements tardifs, par un nombre 茅lev茅 de porcelets mort-n茅s, mommifi茅s ou fragiles, et par une maladie respiratoire des jeunes porcs sevr茅s ou non. Elle est due au virus du syndrome dysg茅n茅sique et respiratoire porcin. (Radostits et al., Veterinary Medicine, 8猫me 茅d., p1048) MSH2017_2016_08_12:D019318 C0026976 Myelitis, transverse MYELITIS TRANSVERSE | Myelitis transverse | Myelitis, Transverse | Myelitis, Transverse [Disease/Finding] | TRANSVERSE MYELITIS ACUTE OR SUBACUTE | Transverse Myelitis | Transverse Myelopathy Syndrome | Transverse Myelopathy Syndromes | Transverse myelitis | Transverse myelitis NOS | Transverse myelopathy syndrome | Transverse myelopathy syndrome (disorder) | myelitis transverse | myelitis; transverse | transverse myelitis | transverse myelitis (diagnosis) | transverse; myelitis MSH2017_2016_08_12:Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence. (Adams et al., Principles of Neurology, 6th ed, pp1242-6) MSH2017_2016_08_12:D009188|SNOMEDCT_US_2016_09_01:16631009|SNOMEDCT_US_2016_09_01:192682002 C2677362 Alveolar capillary dysplasia Alveolar Capillary Dysplasia | Alveolar capillary dysplasia | Alveolar/capillary dysplasia | Congenital alveolar capillary dysplasia | Congenital pulmonary alveolar capillary dysplasia | Congenital pulmonary alveolar capillary dysplasia (disorder) NCI2016_02D:A rare lethal congenital abnormality that refers to the abnormal development of the capillaries around the alveoli in the lung parenchyma. It manifests as respiratory distress and persistent pulmonary hypertension in infancy. MSH2017_2016_08_12:C536590|OMIM2016_04_17:MTHU022556|OMIM2016_04_17:MTHU023522|SNOMEDCT_US_2016_09_01:708028001 C2750913 Neuronal loss in basal ganglia Neuronal loss in basal ganglia HPO2016_07_04:A reduction in the number of nerve cells in the basal ganglia. [HPO:probinson, pmid:13729575] HPO2016_07_04:HP:0200147|OMIM2016_04_17:MTHU025309 C0152221 Paralytic strabismus Paralytic squint | Paralytic squint NOS | Paralytic squint NOS (disorder) | Paralytic strabismus | Paralytic strabismus (disorder) | Paralytic strabismus, NOS | Paralytic strabismus, unspecif | Paralytic strabismus, unspecified | Strabismus, paralytic | Unspecified paralytic strabismus | Unspecified paralytic strabismus (disorder) | paralytic strabismus | paralytic strabismus (diagnosis) | paralytic; strabismus | strabismus; paralytic ICD10CM_2017:H49|ICD10CM_2017:H49.9|ICD9CM_2014:378.5|ICD9CM_2014:378.50|SNOMEDCT_US_2016_09_01:12942001|SNOMEDCT_US_2016_09_01:194117002|SNOMEDCT_US_2016_09_01:194120005|SNOMEDCT_US_2016_09_01:400942002 C0206143 Loeffler endocarditis Endocarditis, Loeffler | Endocarditis, Loeffler's | Endocarditis, Loefflers | Loeffler Endocarditis | Loeffler endocarditis | Loeffler's Endocarditis | Loeffler's endocarditis | Loeffler's endocarditis (disorder) | Loefflers Endocarditis | loeffler endocarditis | loefflers endocarditis MSH2017_2016_08_12:D017681|SNOMEDCT_US_2016_09_01:449829009 C0264435 Kaolin; pneumoconiosis Kaolin Pneumoconiosis | Kaolin pneumoconiosis | Kaolin workers pneumoconiosis | Kaolinosis | Kaolinosis (disorder) | kaolin; pneumoconiosis | kaolinosis | kaolinosis (diagnosis) | pneumoconiosis due to kaolin | pneumoconiosis; kaolin NCI2016_02D:Pneumoconiosis caused by inhalation of kaolin dust. SNOMEDCT_US_2016_09_01:36696005 C0748164 Pulmonary nodule multiple Multiple Pulmonary Nodule | Multiple Pulmonary Nodules | Multiple Pulmonary Nodules [Disease/Finding] | Multiple nodules of lung | Multiple nodules of lung (finding) | Multiple pulmonary nodules | PULMONARY NODULE MULTIPLE | Pulmonary Nodule, Multiple | Pulmonary Nodules | Pulmonary Nodules, Multiple | Pulmonary nodules | multiple nodules pulmonary | pulmonary nodule multiple MSH2017_2016_08_12:A number of small lung lesions characterized by small round masses of 2- to 3-mm in diameter. They are usually detected by chest CT scans (COMPUTED TOMOGRAPHY, X-RAY). Such nodules can be associated with metastases of malignancies inside or outside the lung, benign granulomas, or other lesions. | NCI2016_02D:Multiple, small, round or oval, benign or malignant growths in the lung(s), which can be due to infectious, inflammatory, or neoplastic processes. | NCI2016_NICHD_1602D:Multiple, small, round or oval, benign or malignant growths in the lung(s), which can be due to infectious, inflammatory, or neoplastic processes. MSH2017_2016_08_12:D055613|SNOMEDCT_US_2016_09_01:445249002 C1997910 Citrin deficiency Citrin deficiency | Citrin deficiency (disorder) | Citrullinaemia ll | Citrullinemia ll SNOMEDCT_US_2016_09_01:429735007 C0038273 Stereotypic movement disorder Movement Disorder, Stereotypic | Stereotyped behavior | Stereotyped movement | Stereotyped movement disorder | Stereotyped movement disorders | Stereotypes NOS | Stereotypic Movement Disorder | Stereotypic Movement Disorder [Disease/Finding] | Stereotypic Movement Disorders | Stereotypic behavior | Stereotypic behaviors | Stereotypic movement disorder | Stereotypical motor behaviors | Stereotypy | Stereotypy habit disorder | Stereotypy habit disorder (disorder) | Stereotypy/habit disorder | Sterotyped behavior | disorder; stereotyped | movement; disorder, stereotyped | movements stereotyped | stereotyped movement | stereotyped movement disorder | stereotyped; disorder | stereotyped; movement disorders | stereotypes | stereotypic movement disorder | stereotypic movement disorder (diagnosis) | stereotypies | stereotypies; disorder | stereotypy HPO2016_07_04:A repetitive behaviour that does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps. [HPO:probinson] | MSH2017_2016_08_12:Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (DSM-IV, 1994) HPO2016_07_04:HP:0000733|ICD10CM_2017:F98.4|ICD9CM_2014:307.3|MSH2017_2016_08_12:D019956|OMIM2016_04_17:MTHU008369|SNOMEDCT_US_2016_09_01:5507002 C3698072 Brainstem myoclonus Brainstem myoclonus | Brainstem myoclonus (disorder) SNOMEDCT_US_2016_09_01:698738000 C0022364 Jaw neoplasms Jaw Neoplasm | Jaw Neoplasms | Jaw Neoplasms [Disease/Finding] | Jaw neoplasm | Neoplasm of jaw | Neoplasm of jaw (disorder) | Neoplasm, Jaw | Neoplasms, Jaw | neoplasm of jaw | neoplasm of jaw (diagnosis) HPO2016_07_04:A tumor originating in the jaw (mandible or maxilla). [] {comment="HPO:probinson"} | MSH2017_2016_08_12:Cancers or tumors of the MAXILLA or MANDIBLE unspecified. For neoplasms of the maxilla, MAXILLARY NEOPLASMS is available and of the mandible, MANDIBULAR NEOPLASMS is available. HPO2016_07_04:HP:0030792|MSH2017_2016_08_12:D007573|SNOMEDCT_US_2016_09_01:126634001 C0156369 Uterine polyp Intrauterine polyp | Polyp - uterine | Polyp of Uterus | Polyp of body of uterus | Polyp of corpus uteri | Polyp of corpus uteri (disorder) | Polyp of the Uterus | Polyp of uterus NOS | Polyp, uterus NOS | UTERINE POLYP | Uterine Polyp | Uterine polyp | Uterine polyp NOS | Uterus Polyp | corpus uteri; polyp | endometrial polyp | endometrial polyps | endometrium polyp | endometrium polyps | intrauterine polyp | intrauterine polyps | polyp endometrial | polyp endometrium | polyp of corpus uteri (diagnosis) | polyp uterine | polyp uterus | polyp; corpus uteri | polyp; uterus | polyps endometrial | polyps uterine | polyps uterus | uterine polyp | uterus polyp | uterus; polyp NCI2016_02D:A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection. ICD10CM_2017:N84.0|ICD9CM_2014:621.0|SNOMEDCT_US_2016_09_01:11314008|SNOMEDCT_US_2016_09_01:266659005 C0950121 Denys-drash syndrome DDS | DENYS-DRASH SYNDROME | DRASH SYNDROME | Denys Drash Syndrome | Denys-Drash Syndrome | Denys-Drash Syndrome [Disease/Finding] | Denys-Drash syndrome | Drash Syndrome | Drash syndrome | Drash syndrome (disorder) | NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES | Nephropathy, Wilms Tumor, and Genital Anomalies | Nephrotic Syndrome Type 4 | Nephrotic syndrome with pseudohermaphroditism | Pseudohermaphroditism, Nephron Disorder and Wilms' Tumor | Syndrome, Denys-Drash | Syndrome, Drash | WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM | Wilms Tumor and Pseudohermaphroditism | Wilms' tumor and nephrotic syndrome with pseudohermaphroditism | Wilms' tumour and nephrotic syndrome with pseudohermaphroditism | denys drash syndrome | denys-drash syndrome | nephrotic syndrome congenital type 4 | nephrotic syndrome congenital type 4 (diagnosis) MSH2017_2016_08_12:A disorder of sex development characterized by UROGENITAL ABNORMALITIES; GONADAL DYSGENESIS; and WILMS TUMOR. It is caused by a mutation in the Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11. | NCI2016_02D:A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders. | NCI2016_NCI-GLOSS_1602D:A rare disorder that causes kidney failure before age 3, abnormal development of the sexual organs, and, in most cases, Wilms tumor (a type of kidney cancer). Children with Denys-Drash syndrome are also at high risk of some other types of cancer. | NCI2016_NICHD_1602D:A condition comprising congenital nephrotic syndrome, developmental sex disorder and Wilms tumor; associated with mutation(s) in the WT1 gene. MSH2017_2016_08_12:D030321|OMIM2016_04_17:194080|OMIM2016_04_17:607102|SNOMEDCT_US_2016_09_01:236385009 C3899979 Bclc stage b hepatocellular carcinoma BCLC Stage B Hepatocellular Carcinoma | Barcelona Clinic Liver Cancer Stage B Hepatocellular Carcinoma NCI2016_02D:Intermediate hepatocellular carcinoma. Patients may benefit from chemoembolization. (HPB (Oxford) 2005; 7(1):35-41) C1855579 Exercise-induced muscle stiffness Exercise-induced muscle stiffness | Muscle stiffness with exercise | Muscle stiffness, exercise-induced HPO2016_07_04:A type of muscle stiffness that occurs following physical exertion. [HPO:probinson] HPO2016_07_04:HP:0008967|OMIM2016_04_17:MTHU004171|OMIM2016_04_17:MTHU008174|OMIM2016_04_17:MTHU011945 C1850889 Muscular dystrophy, limb-girdle, type 2b LGMD2B | LGMD3 | Limb-girdle muscular dystrophy, type 2B | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 3 | Muscular Dystrophy, Limb-Girdle, Type 2B | Muscular dystrophy, limb-girdle, type 3 MSH2017_2016_08_12:C535899|OMIM2016_04_17:253601|OMIM2016_04_17:603009 C4072902 Reduced muscle carnitine level Reduced muscle carnitine level HPO2016_07_04:A reduction in the level of carnitine in muscle tissue. [HPO:probinson, pmid:8174281, pmid:8472351] HPO2016_07_04:HP:0030362 C2987127 Digestive system neuroendocrine tumor Digestive System NET | Digestive System Neuroendocrine Tumor | Gastrointestinal NET | Gastrointestinal Neuroendocrine Tumor | Gastrointestinal System Neuroendocrine Tumor NCI2016_02D:A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas. C1838100 Maturity-onset diabetes of the young, type 3 (disorder) MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) | MODY, TYPE 3 | MODY, Type 3 | MODY3 | Maturity-Onset Diabetes of the Young, Type 3 | Maturity-onset diabetes of the young, type 3 | Maturity-onset diabetes of the young, type 3 (disorder) | maturity-onset diabetes of the young - type 3 | maturity-onset diabetes of the young - type 3 (diagnosis) MSH2017_2016_08_12:C563933|OMIM2016_04_17:142410|OMIM2016_04_17:600496|SNOMEDCT_US_2016_09_01:609570008 C3554004 Pbd13a PBD13A | PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) OMIM2016_04_17:601791|OMIM2016_04_17:614887 C1304055 Brachioradial pruritus Brachioradial pruritus | Brachioradial pruritus (disorder) SNOMEDCT_US_2016_09_01:402178001 C2751807 Emery-dreifuss muscular dystrophy 4 EDMD4 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT | Emery-Dreifuss Muscular Dystrophy 4 | Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant | Emery-Dreifuss muscular dystrophy 4 | Emery-Dreifuss muscular dystrophy 4 (diagnosis) MSH2017_2016_08_12:C567831|OMIM2016_04_17:608441|OMIM2016_04_17:612998 C0574090 Erythrocyte uridine diphosphate galactose-4-epimerase deficiency Erythrocyte uridine diphosphate galactose-4-epimerase deficiency | Erythrocyte uridine diphosphate galactose-4-epimerase deficiency (disorder) SNOMEDCT_US_2016_09_01:297238008 C1336437 Stage iv renal pelvis and ureter cancer Stage IV Renal Pelvis and Ureter Cancer | Stage IV Renal Pelvis and Ureter Carcinoma | Stage IV Renal Pelvis and Ureter Carcinoma AJCC v7 | stage IV transitional cell cancer of the renal pelvis and ureter NCI2016_02D:Stage IV includes: (T4, N0, M0); (Any T, N1, M0); (Any T, N2, M0); (Any T, N3, M0); (Any T, Any N, M1). T4: Tumor invades adjacent organs, or through the kidney into the perinephric fat. N0: No regional lymph node metastasis. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node, more than 5 cm in greatest dimension. M0: No distant metastasis. N1: Distant metastasis. (AJCC 7th ed.) | NCI2016_NCI-GLOSS_1602D:Cancer has spread to a nearby organ and/or to the layer of fat surrounding the kidney. C0342482 X-linked adrenal hypoplasia congenita ADDISON DISEASE, X-LINKED | ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM | AHC WITH HHG | AHC WITH ISOLATED GONADOTROPIN DEFICIENCY | AHC with Isolated Gonadotropin Deficiency | AHCH | AHX | Addison Disease, X-Linked | Adrenal Hypoplasia Congenita | Adrenal Hypoplasia, Congenital | Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism | Adrenal hypoplasia congenita | Congenital adrenal hypoplasia | Congenital adrenal hypoplasia, X-linked | Congenital adrenal hypoplasia, X-linked (disorder) | Cytomegalic Adrenocortical Hypoplasia | X-Linked Adrenal Hypoplasia Congenita | X-linked adrenal hypoplasia congenita | X-linked congenital adrenal hypoplasia NCI2016_02D:A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism. MSH2017_2016_08_12:C536757|OMIM2016_04_17:300200|SNOMEDCT_US_2016_09_01:237764004 C4024612 Tibialis muscle weakness Tibialis muscle weakness HPO2016_07_04:Muscle weakness affecting the tibialis anterior muscle. [HPO:probinson] HPO2016_07_04:HP:0008963 C0859245 Tongue redness Tongue redness C0454596 Dysarthria, spastic Dysarthria, Spastic | Dysarthrias, Spastic | Pseudobulbar palsy type of dysarthria | Rigid dysarthria | Rigid type of dysarthria | Spastic Dysarthria | Spastic Dysarthrias | Spastic dysarthria | Spastic dysarthria (finding) | Suprabulbar palsy type of dysarthria | Upper motor neurone type of dysarthria | dysarthria spastic | spastic dysarthria | spastic dysarthria (physical finding) | speech articulation dysarthria spastic HPO2016_07_04:A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. [HPO:probinson] HPO2016_07_04:HP:0002464|MSH2017_2016_08_12:D004401|OMIM2016_04_17:MTHU004061|SNOMEDCT_US_2016_09_01:229684006 C4022576 Slow pupillary light response Slow pupillary light response HPO2016_07_04:Reduced velocity and acceleration in the pupillary light response. [pmid:974056, UNCL:tevangelista] HPO2016_07_04:HP:0030211 C1846009 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies IMAGE SYNDROME | IMAGE Syndrome | IMAGe syndrome | INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES | Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies | Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome | Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome (disorder) MSH2017_2016_08_12:C564543|OMIM2016_04_17:600856|OMIM2016_04_17:614732|SNOMEDCT_US_2016_09_01:702384004 C1299262 Sarcoma - category (morphologic abnormality) Sarcoma | Sarcoma (category) | Sarcoma - category | Sarcoma - category (morphologic abnormality) | Sarcoma -category (morphologic abnormality) SNOMEDCT_US_2016_09_01:372151005 C0023761 Lip neoplasms Lip Neoplasm | Lip Neoplasms | Lip Neoplasms [Disease/Finding] | Lip Tumor | Lip neoplasm | Lip neoplasm NOS | Lip tumor | Lips--Tumors | Neoplasm of Lip | Neoplasm of lip | Neoplasm of lip (disorder) | Neoplasm of the Lip | Neoplasm of the lip | Neoplasm, Lip | Neoplasms, Lip | Tumor of Lip | Tumor of lip | Tumor of the Lip | Tumor of the lip | Tumour of lip | lip neoplasm | lip tumor | lip tumors | lips neoplasm | neoplasm of lip | neoplasm of lip (diagnosis) HPO2016_07_04:A tumor (abnormal growth of tissue) of the lip. [HPO:probinson] | MSH2017_2016_08_12:Tumors or cancer of the LIP. | NCI2016_02D:A benign or malignant neoplasm involving the lip. HPO2016_07_04:HP:0100604|MSH2017_2016_08_12:D008048|SNOMEDCT_US_2016_09_01:126770008 C0036413 Scleredema adultorum Buschke Scleredema | Buschke Scleredema Adultorum | Buschke Scleredema Diabeticorum | Buschke's Scleredema | Buschke's scleredema | Buschke; disease (etiology) | Buschke; disease (manifestation) | Buschke; scleredema | Buschke; scleroderma | Buschkes Scleredema | Diabeticorum, Scleredema | Diabeticorums, Scleredema | Scleredema | Scleredema (disorder) | Scleredema -RETIRED- | Scleredema Adultorum | Scleredema Adultorum [Disease/Finding] | Scleredema Adultorum of Buschke | Scleredema Diabeticorum | Scleredema Diabeticorum of Buschke | Scleredema Diabeticorums | Scleredema adultorum of Buschke | Scleredema of Buschke | Scleredema, Buschke's | Scleredemas | Scleroedema | adultorum; scleredema | buschke scleredema | disease; Buschke (etiology) | disease; Buschke (manifestation) | scleredema | scleredema; Buschke | scleredema; adultorum | scleroderma; Buschke | scleroedema CSP2006:diffuse, symmetrical, wooden, nonpitting hardening of the skin; etiology unknown; usually begins on the face, head, or neck and spreads to the shoulders, arms, and chest; usually preceded by a staphylococcal or other infection. | MSH2017_2016_08_12:A diffuse, non-pitting induration of the skin of unknown etiology that occurs most commonly in association with diabetes mellitus, predominantly in females. It typically begins on the face or head and spreads to other areas of the body, sometimes involving noncutaneous tissues. Often it is preceded by any of various infections, notably staphylococcal infections. The condition resolves spontaneously, usually within two years of onset. (From Dorland, 27th ed) | NCI2016_02D:A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis. | SCTSPA_2016_04_30:Edema duro, sin f贸vea e induraci贸n de la piel; hallazgo asociado con la enfermedad de Buschke | SNOMEDCT_US_2016_09_01:Hard non pitting edema and induration of the skin; a finding associated with Buschke's disease | SNOMEDCT_US_2016_09_01:Hard non pitting edema and induration of the skin; a finding associated with Buschke's disease. MSH2017_2016_08_12:D012592|SNOMEDCT_US_2016_09_01:72967001|SNOMEDCT_US_2016_09_01:95323007 C3277697 Decreased visual acuity, progressive Decreased visual acuity, progressive | Progressive decrease in visual acuity HPO2016_07_04:HP:0000529|OMIM2016_04_17:MTHU031511|OMIM2016_04_17:MTHU047858 C3150940 Chromosome 2q31.1 duplication syndrome CHROMOSOME 2q31.1 DUPLICATION SYNDROME | MESOMELIC DYSPLASIA, 2q31.1 DUPLICATION-RELATED OMIM2016_04_17:613681 C0158288 Lumbar spinal stenosis LUMBAR SPINAL STENOSIS | LUMBAR SPINE STENOSIS | Lumbar spinal canal stenosis | Lumbar spinal stenosis | Narrow lumbar spinal canal | Spinal stenosis lumbar | Spinal stenosis of lumbar region | Spinal stenosis of lumbar region (disorder) | Spinal stenosis of lumbar region NOS | Spinal stenosis, lumbar region | Spinal stenosis; lumbar region | lumbar canal stenosis | lumbar region spinal stenosis | lumbar spinal stenosis | lumbar spine stenosis | spinal lumbar stenosis | spinal stenosis lumbar | spinal stenosis of lumbar region | spinal stenosis of lumbar region (diagnosis) HPO2016_07_04:An abnormal narrowing of the lumbar spinal canal. [HPO:probinson, pmid:3160275] HPO2016_07_04:HP:0004610|ICD10CM_2017:M48.06|SNOMEDCT_US_2016_09_01:18347007 C2936858 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 21 alpha hydroxylase deficiency | 21 hydroxylase deficiency | 21-HYDROXYLASE DEFICIENCY | 21-Hydroxylase Deficiency | ADRENAL HYPERPLASIA III | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | Adrenal hyperplasia III | CAH1 | CONGENITAL ADRENAL HYPERPLASIA 1 | CYP21 DEFICIENCY | CYP21 deficiency | Congenital adrenal hyperplasia 1 | Congenital adrenal hyperplasia due to 21 hydroxylase deficiency MSH2017_2016_08_12:C535979|OMIM2016_04_17:201910|OMIM2016_04_17:613815 C0403716 Renal calculus pelvis Calculus in renal pelvis | Calculus in renal pelvis (disorder) | RENAL CALCULUS PELVIS | Stone in renal pelvis SNOMEDCT_US_2016_09_01:236710009 C3554047 Ventricular tachycardia, catecholaminergic polymorphic, 4 CPVT4 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 OMIM2016_04_17:114180|OMIM2016_04_17:614916 C2673677 Myopathy, early-onset, with fatal cardiomyopathy EOMFC | Early onset myopathy with fatal cardiomyopathy | Early onset myopathy with fatal cardiomyopathy (disorder) | Early-Onset Myopathy with Fatal Cardiomyopathy | MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY | Myopathy, Early-Onset, with Fatal Cardiomyopathy | Salih Cmd | Salih Congenital Muscular Dystrophy | Salih Myopathy | Salih congenital muscular dystrophy | Salih myopathy MSH2017_2016_08_12:C567129|OMIM2016_04_17:188840|OMIM2016_04_17:611705|SNOMEDCT_US_2016_09_01:702343002 C1859778 Postnatal growth retardation Growth delay as children | Growth failure, postnatal | Growth retardation as children | Growth retardation, postnatal | Postnatal growth deceleration | Postnatal growth deficiency | Postnatal growth failure | Postnatal growth retardation HPO2016_07_04:Slow or limited growth after birth. [DDD:hfirth] HPO2016_07_04:HP:0008897|OMIM2016_04_17:MTHU000566|OMIM2016_04_17:MTHU002378|OMIM2016_04_17:MTHU012627|OMIM2016_04_17:MTHU013392|OMIM2016_04_17:MTHU014466|OMIM2016_04_17:MTHU017320|OMIM2016_04_17:MTHU021361 C4280618 Inadequate arch length for tooth size Inadequate arch length for tooth size HPO2016_07_04:HP:0000678 C0268317 Cholestatic jaundice syndrome, chronic Cholestatic jaundice syndrome, chronic | Chronic cholestatic jaundice syndrome | Chronic cholestatic jaundice syndrome (disorder) SNOMEDCT_US_2016_09_01:75066002 C4049050 Opalescent dentin Capdepont Teeth | Dentin, Opalescent | Dentinogenesis Imperfecta 1 | Dentinogenesis Imperfecta, Shields Type II | Imperfecta 1, Dentinogenesis | Opalescent Dentin | Opalescent dentin | Teeth, Capdepont MSH2017_2016_08_12:D003811 C0311284 Histiocytoma, giant cell HISTIOCYTOMA, GIANT CELL | LIPOID DERMATOARTHRITIS | Lipoid dermato-arthritis | Lipoid dermatoarthritis | Lipoid dermatoarthritis (disorder) | MR | MRH | Multicentric Reticulohistiocytosis | Multicentric reticulohistiocytosis | Multicentric reticulohistiocytosis (disorder) | Nicolau-Balus syndrome | RETICULOHISTIOCYTOMA, MULTICENTRIC | lipoid dermatoarthritis | lipoid dermatoarthritis (diagnosis) | lipoid metabolism disorder lipoid dermatoarthritis CHV2011_02:a rare disease where skin rashes containing lipid are associated with arthritis | NCI2016_02D:A systemic disease, often associated with arthritis, fever, and weight loss. The cutaneous lesions consist of histiocytes, which are usually confined to the dermis. A large number of patients develop malignant tumors (carcinomas, sarcomas, and lymphomas). --2003 ICD10CM_2017:E78.81|SNOMEDCT_US_2016_09_01:190801003|SNOMEDCT_US_2016_09_01:84241008 C3808046 Breathing dysregulation Abnormal breathing | Breathing dysregulation HPO2016_07_04:HP:0005957|OMIM2016_04_17:MTHU043027 C4023180 Type 1 muscle fiber atrophy Type 1 muscle fiber atrophy HPO2016_07_04:Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy. [HPO:probinson] HPO2016_07_04:HP:0011807 C1849488 Increased serum pyruvate Increased serum pyruvate HPO2016_07_04:An increased concentration of pyruvate in the blood. [HPO:gcarletti] HPO2016_07_04:HP:0003542|OMIM2016_04_17:MTHU009765 C1857390 Cystinuria, type a-b CYSTINURIA, TYPE A/B | Cystinuria, Type A-B MSH2017_2016_08_12:C565652|OMIM2016_04_17:220100 C0005122 Beriberi BERIBERI | Beri Beri | Beri beri | Beri-beri | Beriberi | Beriberi (disorder) | Beriberi NOS | Beriberi [Disease/Finding] | Beriberi, NOS | Kakk猫 | POLYNEURITIS, ENDEMIC | beri beri | beri-beri | beriberi | beriberi (diagnosis) | bery bery | deficiency; vitamin, B1, beriberi | deficiency; vitamin, thiamine, beriberi | endemic polyneuritis | vitamin; deficiency, B1, beriberi | vitamin; deficiency, thiamine, beriberi MSH2017_2016_08_12:A disease caused by a deficiency of thiamine (vitamin B1) and characterized by polyneuritis, cardiac pathology, and edema. The epidemic form is found primarily in areas in which white (polished) rice is the staple food, as in Japan, China, the Philippines, India, and other countries of southeast Asia. (Dorland, 27th ed) ICD10CM_2017:E51.1|ICD10CM_2017:E51.11|ICD9CM_2014:265.0|MSH2017_2016_08_12:D001602|SNOMEDCT_US_2016_09_01:154725000|SNOMEDCT_US_2016_09_01:190625009|SNOMEDCT_US_2016_09_01:267491008|SNOMEDCT_US_2016_09_01:35843007|SNOMEDCT_US_2016_09_01:36656008 C2987140 Pancreatic moderately differentiated ductal adenocarcinoma Pancreatic Moderately Differentiated Ductal Adenocarcinoma NCI2016_02D:A pancreatic ductal adenocarcinoma characterized by the presence of medium-sized duct-like structures and small malignant tubular glandular structures. C2750536 Nemaline myopathy 3, with intranuclear rods NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS | Nemaline Myopathy 3, With Intranuclear Rods MSH2017_2016_08_12:C538350|OMIM2016_04_17:161800 C0272322 Severe hereditary factor viii deficiency disease Less than 1% of normal factor VIII | Severe haemophilia A | Severe hemophilia A | Severe hemophilia A (disorder) | Severe hereditary factor VIII deficiency disease | Severe hereditary factor VIII deficiency disease (disorder) SCTSPA_2016_04_30:Enfermedad severa que se manifiesta por actividad del factor VIII menor de 1%, excepto en el Reino Unido e Italia, donde la definici贸n de enfermedad severa incluye niveles de actividad del factor VIII menores de 2% | SNOMEDCT_US_2016_09_01:Severe disease manifests factor VIII activity of less than 1%, except in the U.K. and Italy, where severe disease includes factor VIII activity levels of less than 2% SNOMEDCT_US_2016_09_01:16872008 C1334603 Malignant mixed mesodermal (mullerian) tumor MMMT | MUELLERIAN TUMOR, MIXED, MALIGNANT | Malignant Mixed Mesodermal (Mullerian) Tumor | Malignant Mixed Mesodermal (M眉llerian) Tumor | Malignant Mixed Mesodermal Tumor | Malignant Mixed Mullerian Tumor | Malignant Mixed M眉llerian Tumor | Malignant mixed mesodermal tumor | Malignant mixed mesodermal tumour | Mesodermal Mixed Tumor | Mesodermal Mixed Tumors | Mesodermal mixed tumor | Mesodermal mixed tumor (morphologic abnormality) | Mesodermal mixed tumour | Mixed Tumor, Mesodermal | Mixed Tumor, Mesodermal [Disease/Finding] | Mixed Tumors, Mesodermal | Mmmt | Tumor, Mesodermal Mixed | Tumors, Mesodermal Mixed | malignant mixed Mullerian tumor | mesodermal mixed tumor | mesodermal mixed tumor (diagnosis) | mixed mesodermal tumor | mixed mesodermal tumors MSH2017_2016_08_12:A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702) | NCI2016_02D:An aggressive malignant tumor of the female reproductive system, affecting predominantly elderly menopausal women. The endometrium and ovary are the most common sites of tumor origin. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements. | NCI2016_CDISC_1602D:A malignant neoplasm of the female reproductive system (mostly uterus and ovaries) originating from the Muellerian ducts and composed of carcinomatous and sarcomatous elements. | NCI2016_NCI-GLOSS_1602D:A rare type of tumor that is a mixture of carcinoma and sarcoma cells. MMMT usually occurs in the uterus. MSH2017_2016_08_12:D018199|SNOMEDCT_US_2016_09_01:112684005 C3552821 Photoparoxysmal response on eeg EEG photoparoxysmal response | EEG with photoparoxysmal response | Photoparoxysmal response on EEG HPO2016_07_04:EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns. [HPO:probinson] HPO2016_07_04:HP:0010852|OMIM2016_04_17:MTHU039491 C0023904 Liver neoplasms, experimental Experimental Liver Neoplasm | Experimental Liver Neoplasms | Liver Neoplasm, Experimental | Liver Neoplasms, Experimental | Liver Neoplasms, Experimental [Disease/Finding] | Neoplasms, Experimental Liver MSH2017_2016_08_12:Experimentally induced tumors of the LIVER. MSH2017_2016_08_12:D008114 C1836460 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2 PEOA2 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2 | Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 | Progressive External Ophthalmoplegia, Autosomal Dominant, 2 MSH2017_2016_08_12:C563750|OMIM2016_04_17:103220|OMIM2016_04_17:609283 C0002726 Amyloidosis AMYLOID | AMYLOIDOSIS | Amyloid disease | Amyloidoses | Amyloidosis | Amyloidosis (disorder) | Amyloidosis NOS | Amyloidosis NOS (disorder) | Amyloidosis [Disease/Finding] | Amyloidosis, NOS | Amyloidosis, unspecified | amyloid disease | amyloid diseases | amyloid; disorder | amyloidoses | amyloidosis | amyloidosis (diagnosis) | disorder; amyloid CHV2011_02:A group of diseases in which protein is deposited in specific organs or throughout the body. | CSP2006:any disease manifested by the pathogenic accumulation of amyloid in organs and tissues. | HPO2016_07_04:The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. [HPO:probinson, pmid:21039326] | MEDLINEPLUS_20151021:Amyloidosis occurs when abnormal proteins called amyloids build up and form deposits. The deposits can collect in organs such as the kidney and heart. This can cause the organs to become stiff and unable to work the way they should.
There are three main types of amyloidosis:
Symptoms can vary, depending upon which organs are affected. Treatment depends on the type of amyloidosis you have. The goal is to help with symptoms and limit the production of proteins. If another disease is the cause, it needs to be treated.
| MSH2017_2016_08_12:A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits. | NCI2016_02D:A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands. | NCI2016_CDISC_1602D:An accumulation of amyloid protein. | NCI2016_NCI-GLOSS_1602D:A group of diseases in which protein builds up in certain organs (localized amyloidosis) or throughout the body (systemic amyloidosis). Amyloidosis may be either primary (with no known cause), secondary (caused by another disease, including some types of cancer, such as multiple myeloma), or hereditary (passed down from parents to children). Many organs are affected by amyloidosis. The organs affected may depend on whether the amyloidosis is the primary, secondary, or hereditary form. HPO2016_07_04:HP:0011034|ICD10CM_2017:E85|ICD10CM_2017:E85.9|ICD9CM_2014:277.3|ICD9CM_2014:277.30|MSH2017_2016_08_12:D000686|SNOMEDCT_US_2016_09_01:154769007|SNOMEDCT_US_2016_09_01:17602002|SNOMEDCT_US_2016_09_01:190931005 C0752155 Central nervous system vascular malformations CNS Vascular Malformation | Central Nervous System Vascular Anomalies | Central Nervous System Vascular Malformation | Central Nervous System Vascular Malformations | Central Nervous System Vascular Malformations [Disease/Finding] | Vascular Anomalies, Central Nervous System | Vascular Malformation of CNS | Vascular Malformation of the CNS | Vascular Malformations of Central Nervous System | Vascular Malformations of the Central Nervous System | Vascular Malformations, Central Nervous System | Vascular malformation of the nervous system | Vascular malformation of the nervous system (disorder) MSH2017_2016_08_12:Congenital, inherited, or acquired abnormalities involving ARTERIES; VEINS; or venous sinuses in the BRAIN; SPINAL CORD; and MENINGES. MSH2017_2016_08_12:D020785|SNOMEDCT_US_2016_09_01:253193002 C2048011 Raised level of immunoglobulins nos Elevated immunoglobulin levels | Immunoglobulin level raised | Increased immunoglobulin level | Raised immunoglobulin levels | Raised level of immunoglobulins | Raised level of immunoglobulins NOS | [D]Immunoglobulin level raised | [D]Immunoglobulin level raised (context-dependent category) | [D]Immunoglobulin level raised (situation) | elevated immunoglobulin level | elevated immunoglobulin level (lab test) | immunoglobulin level; increased | immunology studies revealed raised immunoglobulin level | increased; immunoglobulin level HPO2016_07_04:HP:0010702|ICD10CM_2017:R76.8|SNOMEDCT_US_2016_09_01:158692009|SNOMEDCT_US_2016_09_01:274264001 C0268358 Osteogenesis imperfecta, dominant perinatal lethal Aplasia ossea microplastica | Aplasia periostealis | Congenital periosteal dysplasia | Fetal osteoporosis | Fetal osteopsathyrosis | Foetal osteoporosis | Foetal osteopsathyrosis | Fragilitas ossium congenita | Neonatal lethal osteogenesis imperfecta congenita | OI, TYPE II | OI2 | OIC | OSTEOGENESIS IMPERFECTA CONGENITA | OSTEOGENESIS IMPERFECTA CONGENITA, PERINATAL LETHAL FORM | OSTEOGENESIS IMPERFECTA, TYPE II | OSTEOGENESIS IMPERFECTA, TYPE IIA | Osteogenesis Imperfecta Type II | Osteogenesis Imperfecta, Type IIA | Osteogenesis imperfecta congenita | Osteogenesis imperfecta congenita neonatal lethal form | Osteogenesis imperfecta congenita, perinatal lethal form | Osteogenesis imperfecta letalis | Osteogenesis imperfecta type II | Osteogenesis imperfecta type II (disorder) | Osteogenesis imperfecta type II, dominant form | Osteogenesis imperfecta type IIA | Osteogenesis imperfecta type IIA (disorder) | Osteogenesis imperfecta, dominant perinatal lethal | Osteogenesis imperfecta, dominant perinatal lethal (disorder) | Osteogenesis imperfecta, neonatal lethal | Osteogenesis imperfecta, perinatal lethal | Osteogenesis imperfecta, perinatal lethal (disorder) | Osteogenesis imperfecta, perinatal lethal (disorder) [Ambiguous] | Osteogenesis imperfecta, type 2A | Osteogenesis imperfecta, type II | Osteopsathyrosis congenita | VROLIK TYPE OF OSTEOGENESIS IMPERFECTA | Vrolik Disease | Vrolik type of osteogenesis imperfecta | osteogenesis imperfecta type II | osteogenesis imperfecta type II (diagnosis) NCI2016_02D:A severe form of osteogenesis imperfecta. It is characterized by bone deformities, multiple fractures, underdeveloped lungs, and often death during or after birth due to respiratory abnormalities. MSH2017_2016_08_12:C536042|OMIM2016_04_17:120150|OMIM2016_04_17:120160|OMIM2016_04_17:166210|SNOMEDCT_US_2016_09_01:205496008|SNOMEDCT_US_2016_09_01:254110009|SNOMEDCT_US_2016_09_01:278454001|SNOMEDCT_US_2016_09_01:7134007|SNOMEDCT_US_2016_09_01:78354004 C2129387 Left axillary swelling left axillary swelling | left axillary swelling (symptom) | swelling in left armpit | swelling in left axilla | swelling in the left armpit | swelling in the left axilla C1853286 Erythrocytosis, familial, 3 ECYT3 | ERYTHROCYTOSIS, FAMILIAL, 3 | Erythrocytosis, Familial, 3 MSH2017_2016_08_12:C565221|OMIM2016_04_17:606425|OMIM2016_04_17:609820 C3668943 Fatty acid hydroxylase-associated neurodegeneration Dysmyelinating Leukodystrophy and Spastic Paraparesis | Dysmyelinating leukodystrophy and spastic paraparesis | Fatty Acid Hydroxylase-Associated Neurodegeneration | Fatty acid hydroxylase associated neurodegeneration | Fatty acid hydroxylase associated neurodegeneration (disorder) | Spastic Paraplegia 35 | Spastic paraplegia 35 MSH2017_2016_08_12:C580102|SNOMEDCT_US_2016_09_01:702419001 C0018202 Granulomatous angiitis ARTERITIS, GRANULOMATOUS | Angiitis, Granulomatous | Arteritis, Granulomatous | Granulomatous Angiitis | Granulomatous Arteritis | Granulomatous angiitis | Granulomatous arteritis | Granulomatous vasculitis | granulomatous angiitis | granulomatous arteritis | granulomatous vasculitis MSH2017_2016_08_12:D020293 C1857554 Hsd11b2, arg213cys HSD11B2, ARG213CYS OMIM2016_04_17:614232.0002 C1868139 Medullary cystic kidney disease 1 ADMCKD1 | MCKD | MCKD1 | MEDULLARY CYSTIC KIDNEY DISEASE 1 | MEDULLARY CYSTIC KIDNEY DISEASE, AUTOSOMAL DOMINANT | Medullary cystic kidney disease 1 | Medullary cystic kidney disease, autosomal dominant | POLYCYSTIC KIDNEYS, MEDULLARY TYPE | Polycystic kidneys, medullary type MSH2017_2016_08_12:C536137|OMIM2016_04_17:158340|OMIM2016_04_17:174000 C4024158 Abnormality of the columella Abnormality of the columella | Anomaly of the columella | Deformity of the columella | Malformation of the columella HPO2016_07_04:An abnormality of the columella. [HPO:curators] HPO2016_07_04:HP:0009929 C0733682 Hypophosphatemic rickets, x-linked dominant Familial Hypophosphatemic Rickets | Familial Hypophosphatemic Rickets [Disease/Finding] | HPDR | HYP | HYPOPHOSPHATEMIA, X-LINKED | HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT | HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | Hereditary Hypophosphatemic Rickets | Hereditary Vitamin D-Resistant Rickets | Hereditary hypophosphataemic rickets | Hereditary hypophosphatemic rickets | Hypophosphatemic Rickets, X Linked Dominant | Hypophosphatemic Rickets, X-Linked Dominant | Vitamin D Resistant Rickets | Vitamin D-Resistant Rickets, Hereditary | X-Linked Dominant Hypophosphatemic Rickets | X-Linked Hypophosphatemia | X-linked hypophosphataemia | X-linked hypophosphatemia | XLH | XLHR MSH2017_2016_08_12:An X-linked disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. This disorder is caused by mutations in PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE. | NCI2016_02D:An X-linked dominant disorder caused by mutations in the PHEX gene. It is characterized by growth retardation, osteomalacia, hypophosphatemia, and defects in the renal reabsorption of phosphorus. MSH2017_2016_08_12:D053098|OMIM2016_04_17:300550|OMIM2016_04_17:307800 C0002882 Anemia, hemolytic, congenital nonspherocytic Anemia, Congenital Nonspherocytic Hemolytic | Anemia, Hemolytic Congenital, Nonspherocytic | Anemia, Hemolytic, Congenital Nonspherocytic | Anemia, Hemolytic, Congenital Nonspherocytic [Disease/Finding] | Congenital Nonspherocytic Hemolytic Anemia | Congenital non-spherocytic hemolytic anemia | Congenital nonspherocytic haemolytic anaemia | Congenital nonspherocytic haemolytic anaemia, NOS | Congenital nonspherocytic hemolytic anemia | Congenital nonspherocytic hemolytic anemia (disorder) | Congenital nonspherocytic hemolytic anemia (disorder) [Ambiguous] | Congenital nonspherocytic hemolytic anemia, NOS | HNSHA | HNSHA (disorder) | Hemolytic Anemia, Congenital Nonspherocytic | Hereditary nonspherocytic haemolytic anaemia | Hereditary nonspherocytic haemolytic anaemia, NOS | Hereditary nonspherocytic hemolytic anemia | Hereditary nonspherocytic hemolytic anemia (disorder) | Hereditary nonspherocytic hemolytic anemia, NOS | congenital nonspherocytic hemolytic anemia | hereditary nonspherocytic hemolytic anemia CSP2006:group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte; in some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated. | MSH2017_2016_08_12:Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE. MSH2017_2016_08_12:D000746|OMIM2016_04_17:MTHU039166|SNOMEDCT_US_2016_09_01:300389006|SNOMEDCT_US_2016_09_01:301317008|SNOMEDCT_US_2016_09_01:82775009 C4014449 Spermatogenic failure 13 SPERMATOGENIC FAILURE 13 | SPGF13 OMIM2016_04_17:615841 C1836473 Keratoconus 4 KERATOCONUS 4 | KTCN4 | Keratoconus 4 MSH2017_2016_08_12:C563752|OMIM2016_04_17:609271 C1527284 Dental pulp stone Dental Pulp Stone | Dental Pulp Stones | Dental pulp stone | Dental pulp stones | Denticle | Denticles | Denticles (disorder) | PULP STONES | Pulp Stone | Pulp Stone, Dental | Pulp Stones | Pulp Stones, Dental | Pulp calcifications | Pulp denticles | Pulp stone | Pulp stones | Stone, Dental Pulp | Stone, Pulp | Stones, Dental Pulp | Stones, Pulp | calcification pulp | dental pulp calcification | dental pulp stones | denticles | denticles (diagnosis) | pulp calcification | pulp stone | pulp stones HPO2016_07_04:Multiple punctate calcifications in the dental pulp. [HPO:ibailleulforestier] HPO2016_07_04:HP:0003771|ICD10CM_2017:K04.2|MSH2017_2016_08_12:D003784|OMIM2016_04_17:125420|OMIM2016_04_17:MTHU003734|OMIM2016_04_17:MTHU006835|SNOMEDCT_US_2016_09_01:57602001 C0018896 Assist Assistance | Assistance (Social Behavior) | Behavior, Helping | Behaviors, Helping | Helping Behavior | Helping Behaviors | Helping behavior | assist | assistance | assists | helping behavior MSH2017_2016_08_12:Behaviors associated with the giving of assistance or aid to individuals. | PSY2004:Act of rendering aid or help. Limited to human populations. MSH2017_2016_08_12:D006379 C1837492 Neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA | Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia MSH2017_2016_08_12:C563870|OMIM2016_04_17:608720 C0432273 Worth disease Autosomal dominant osteosclerosis | Benign hyperostosis corticalis generalisata | ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT | Endosteal Hyperostosis, Autosomal Dominant | Endosteal hyperostosis | Endosteal hyperostosis Worth type | HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS | Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus | Hyperostosis corticalis generalisata congenita | OSTEOSCLEROSIS, AUTOSOMAL DOMINANT | Osteosclerosis, Autosomal Dominant | Osteosclerosis, autosomal dominant Worth type with torus palatinus | Worth disease | Worth disease (disorder) | Worth syndrome MSH2017_2016_08_12:C536748|OMIM2016_04_17:144750|OMIM2016_04_17:603506|SNOMEDCT_US_2016_09_01:254131007 C1518013 Infiltrating breast syringomatous adenoma Infiltrating Breast Syringomatous Adenoma | Low Grade Adenosquamous Breast Carcinoma NCI2016_02D:A low grade metaplastic carcinoma of the breast with morphologic features similar to the adenosquamous carcinoma of the skin. In the majority of cases the prognosis is excellent. C0011320 Dens in dente Dens in Dente | Dens in Dente [Disease/Finding] | Dens in Dentes | Dens in dente | Dens in dente (disorder) | Dens invaginatus | Dente, Dens in | Dentes, Dens in | Invaginated odontome | Invagination of crown of tooth | Invagination of cusp of crown of tooth | Tooth within a tooth | dens in dente | dens in dente (diagnosis) | dens invaginatus | dens invaginatus (diagnosis) | in Dente, Dens | in Dentes, Dens HPO2016_07_04:An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth. [HPO:ibailleulforestier] | MSH2017_2016_08_12:Anomaly of the tooth, found chiefly in upper lateral incisors. It is characterized by invagination of the enamel at the incisal edge. HPO2016_07_04:HP:0011088|ICD10CM_2017:K00.2|MSH2017_2016_08_12:D003719|OMIM2016_04_17:MTHU037880|OMIM2016_04_17:MTHU038336|SNOMEDCT_US_2016_09_01:55197001 C0403554 Renal tubular acidosis, distal, with progressive nerve deafness RENAL TUBULAR ACIDOSIS WITH PROGRESSIVE NERVE DEAFNESS | RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PROGRESSIVE NERVE DEAFNESS | RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS | RTA WITH PROGRESSIVE NERVE DEAFNESS | Renal Tubular Acidosis with Progressive Nerve Deafness | Renal Tubular Acidosis, Autosomal Recessive, with Progressive Nerve Deafness | Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness | Renal tubular acidosis with progressive nerve deafness | Renal tubular acidosis with progressive nerve deafness (disorder) MSH2017_2016_08_12:C562897|OMIM2016_04_17:267300|SNOMEDCT_US_2016_09_01:236532003 C4023926 Pseudoepiphyses of the proximal phalanges of the hand Pseudoepiphyses of the proximal phalanges of the hand HPO2016_07_04:HP:0010275 C0019064 Hemorrhage intrapericardial HEMOPERICARDIUM | HEMORRHAGE INTRAPERICARDIAL | HEMORRHAGE PERICARDIAL | Haematopericardium | Haemopericardium | Haemopericardium (disorder) | Haemorrhage intrapericardial | Haemorrhage pericardial | Hematopericardium | Hemopericardium | Hemopericardium (disorder) | Hemorrhage intrapericardial | Hemorrhage pericardial | Pericardial bleeding | Pericardial haemorrhage | Pericardial hemorrhage | haemopericardium | hemopericardium | hemopericardium (diagnosis) | hemorrhage; pericardium | pericardium; hemorrhage HPO2016_07_04:Accumulation of blood within the pericardial sac. [HPO:probinson, pmid:10882282] | NCI2016_02D:An accumulation of blood within the pericardial sac. | NCI2016_NICHD_1602D:An accumulation of blood within the pericardial sac. HPO2016_07_04:HP:0011851|ICD9CM_2014:423.0|MSH2017_2016_08_12:D010490|SNOMEDCT_US_2016_09_01:155339006|SNOMEDCT_US_2016_09_01:23412002 C0432581 Malignant neoplasm of lower gum Malignant neoplasm of lower gum | Malignant tumor of lower gingiva | Malignant tumor of lower gingiva (disorder) | Malignant tumor of lower gum | Malignant tumour of lower gingiva | Malignant tumour of lower gum | malignant lower gum neoplasm | malignant neoplasm of lower gum | malignant neoplasm of lower gum (diagnosis) | malignant tumor of lower gum ICD10CM_2017:C03.1|ICD9CM_2014:143.1|SNOMEDCT_US_2016_09_01:363384006|SNOMEDCT_US_2016_09_01:93873003 C2242703 Cardio-renal syndrome Cardio Renal Syndrome | Cardio-Renal Syndrome | Cardio-Renal Syndrome [Disease/Finding] | Cardio-Renal Syndromes | Cardiorenal Syndrome | Cardiorenal Syndromes | Cardiorenal syndrome | Cardiorenal syndrome (disorder) | Reno Cardiac Syndrome | Reno-Cardiac Syndrome | Reno-Cardiac Syndromes | Renocardiac Syndrome | Renocardiac Syndromes | Syndrome, Cardio-Renal | Syndrome, Cardiorenal | Syndrome, Reno-Cardiac | Syndrome, Renocardiac | Syndromes, Cardio-Renal | Syndromes, Cardiorenal | Syndromes, Reno-Cardiac | Syndromes, Renocardiac MSH2017_2016_08_12:Condition where a primary dysfunction of either heart or kidney results in failure of the other organ (e.g., HEART FAILURE with worsening RENAL INSUFFICIENCY). | NCI2016_02D:A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ.(NICHD) | NCI2016_NICHD_1602D:A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ. MSH2017_2016_08_12:D059347|SNOMEDCT_US_2016_09_01:445236007 C0001883 Airway obstruction AIRWAY OBSTRUCTION | AIRWAYS OBSTRUCTION | Airway Obstruction | Airway Obstruction [Disease/Finding] | Airway Obstructions | Airway obstruction | Airway obstruction NOS | Airway obstruction, NOS | Airways obstruction | Embarrassed airway | Obstruction, Airway | Obstructions, Airway | Respiratory obstruction | Respiratory obstruction (disorder) | airway obstructed | airway obstructed (physical finding) | airway obstruction | airway obstructions | airway; obstruction | airways obstruction | obstructed airway | obstruction airway | obstruction; airway | obstruction; respiratory | respiratory obstruction | respiratory; obstruction MSH2017_2016_08_12:Any hindrance to the passage of air into and out of the lungs. MSH2017_2016_08_12:D000402|OMIM2016_04_17:MTHU023547|OMIM2016_04_17:MTHU036644|SNOMEDCT_US_2016_09_01:68372009|SNOMEDCT_US_2016_09_01:79688008 C3272841 Mutyh-associate polyposis MAP | MUTYH-Associate Polyposis | MUTYH-Associated Polyposis | MYH-Associated Polyposis NCI2016_02D:An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur. C0748618 Sensory deficit SENSORY DEFICIT | Sensory deficit | deficits sensory | sensory deficit C0796282 Cataract-hypertrichosis-mental retardation syndrome CAHMR SYNDROME | CAHMR syndrome | CATARACT, HYPERTRICHOSIS, MENTAL RETARDATION SYNDROME | Cataract, Hypertrichosis, Mental Retardation syndrome | cataract-hypertrichosis-mental retardation (CAHMR) syndrome | cataract-hypertrichosis-mental retardation syndrome JABL99:A syndrome consisting mainly of cataracts, hypertrichosis, and mental retardation. MSH2017_2016_08_12:C537959|OMIM2016_04_17:211770 C1860128 Frequent candida infections Frequent Candida infections | Frequent candida infections | Recurrent candida infections HPO2016_07_04:An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections. [HPO:probinson] HPO2016_07_04:HP:0005401|OMIM2016_04_17:MTHU014777 C1260386 Glucocorticoid-remediable aldosteronism ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME | ACTH-Dependent Hyperaldosteronism Syndrome | ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE | Aldosteronism, Sensitive to Dexamethasone | FH I | GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM | GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM | GRA | GSH | GSH - Glucocorticoid-suppressible hyperaldosteronism | Glucocorticoid Suppressible Hyperaldosteronism | Glucocorticoid-Remediable Aldosteronism | Glucocorticoid-Suppressible Hyperaldosteronism | Glucocorticoid-remediable aldosteronism | Glucocorticoid-suppressible hyperaldosteronism | Glucocorticoid-suppressible hyperaldosteronism (disorder) | HYPERALDOSTERONISM, FAMILIAL, TYPE I | Hyperaldosteronism, Familial, Type I NCI2016_02D:Excessive production of aldosterone and elevation of blood pressure by the adrenal gland, which is regulated by corticotropin.(NICHD) | NCI2016_NICHD_1602D:Excessive production of aldosterone and elevation of blood pressure by the adrenal gland, which is regulated by corticotropin. ICD10CM_2017:E26.02|ICD9CM_2014:255.11|MSH2017_2016_08_12:C563177|OMIM2016_04_17:103900|OMIM2016_04_17:610613|SNOMEDCT_US_2016_09_01:237743003 C1839305 Decreased number of cd8+ t cells Decreased number of CD8+ T cells HPO2016_07_04:A decreased count of circulating CD8-positive, alpha-beta regulatory T cells. [HPO:probinson] HPO2016_07_04:HP:0005415|OMIM2016_04_17:MTHU006897 C1855923 Hyperphosphatasia with mental retardation HPMRS1 | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 | Hyperphosphatasaemia with mental retardation | Hyperphosphatasemia with mental retardation | Hyperphosphatasemia with mental retardation (disorder) | Hyperphosphatasia with Mental Retardation | Hyperphosphatasia with seizures and neurologic deficit | MABRY SYNDROME | Mabry syndrome | hyperphosphatasemia with mental retardation (diagnosis) MSH2017_2016_08_12:C565495|OMIM2016_04_17:239300|OMIM2016_04_17:610274|SNOMEDCT_US_2016_09_01:33982008 C1336886 Clear cell adenocarcinoma of urethra Clear Cell Adenocarcinoma of Urethra | Clear Cell Adenocarcinoma of the Urethra | Urethra Clear Cell Adenocarcinoma | Urethral Clear Cell Adenocarcinoma | clear cell adenocarcinoma of urethra | clear cell adenocarcinoma of urethra (diagnosis) NCI2016_02D:A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells. C2930864 Rambaud galian syndrome Rambaud Galian syndrome MSH2017_2016_08_12:C535283 C0272199 Familial hemophagocytic lymphocytosis ERYTHROPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL | Erythrophagocytic Lymphohistiocytoses, Familial | Erythrophagocytic Lymphohistiocytosis, Familial | FEL | FEL - Familial erythrophagocytic lymphohistiocytosis | FHL | FHL - Familial haemophagocytic lymphohistiocytosis | FHL - Familial hemophagocytic lymphohistiocytosis | FHL1 | FHLH | Familial Erythrophagocytic Lymphohistiocytoses | Familial Erythrophagocytic Lymphohistiocytosis | Familial Hemophagocytic Histiocytoses | Familial Hemophagocytic Histiocytosis | Familial Hemophagocytic Lymphocytoses | Familial Hemophagocytic Lymphocytosis | Familial Hemophagocytic Lymphohistiocytoses | Familial Hemophagocytic Lymphohistiocytosis | Familial Hemophagocytic Reticuloses | Familial Hemophagocytic Reticulosis | Familial Histiocytic Reticuloses | Familial Histiocytic Reticulosis | Familial erythrophagocytic lymphohistiocytosis | Familial erythrophagocytic lymphohistiocytosis (disorder) | Familial haemophagocytic histiocytosis | Familial haemophagocytic lymphohistiocytosis | Familial haemophagocytic reticulosis | Familial hemophagocytic histiocytosis | Familial hemophagocytic lymphohistiocytosis | Familial hemophagocytic lymphohistiocytosis (disorder) | Familial hemophagocytic reticulosis | Familial histiocytic reticulosis | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 | HEMOPHAGOCYTIC RETICULOSIS, FAMILIAL | HLH1 | HPLH | HPLH1 | Hemophagocytic Histiocytoses, Familial | Hemophagocytic Histiocytosis, Familial | Hemophagocytic Hymphohistiocytoses, Primary | Hemophagocytic Hymphohistiocytosis, Primary | Hemophagocytic Lymphocytoses, Familial | Hemophagocytic Lymphocytosis, Familial | Hemophagocytic Lymphohistiocytoses, Familial | Hemophagocytic Lymphohistiocytoses, Primary | Hemophagocytic Lymphohistiocytosis Familial -1 | Hemophagocytic Lymphohistiocytosis Familial 1 | Hemophagocytic Lymphohistiocytosis, Familial | Hemophagocytic Lymphohistiocytosis, Familial, 1 | Hemophagocytic Lymphohistiocytosis, Primary | Hemophagocytic Reticuloses, Familial | Hemophagocytic Reticulosis, Familial | Histiocytic Reticuloses, Familial | Histiocytic Reticulosis, Familial | Histiocytoses, Familial Hemophagocytic | Histiocytosis, Familial Hemophagocytic | Hymphohistiocytoses, Primary Hemophagocytic | Hymphohistiocytosis, Primary Hemophagocytic | Lymphocytoses, Familial Hemophagocytic | Lymphocytosis, Familial Hemophagocytic | Lymphohistiocytoses, Familial Erythrophagocytic | Lymphohistiocytoses, Familial Hemophagocytic | Lymphohistiocytoses, Primary Hemophagocytic | Lymphohistiocytosis, Familial Erythrophagocytic | Lymphohistiocytosis, Familial Hemophagocytic | Lymphohistiocytosis, Primary Hemophagocytic | Primary Hemophagocytic Hymphohistiocytoses | Primary Hemophagocytic Hymphohistiocytosis | Primary Hemophagocytic Lymphohistiocytoses | Primary Hemophagocytic Lymphohistiocytosis | RETICULOSIS, FAMILIAL HISTIOCYTIC | Reticuloses, Familial Hemophagocytic | Reticuloses, Familial Histiocytic | Reticulosis, Familial Hemophagocytic | Reticulosis, Familial Histiocytic | familial hemophagocytic lymphohistiocytosis | familial hemophagocytic lymphohistiocytosis (diagnosis) | familial hemophagocytic reticulosis | familial hemophagocytic reticulosis (diagnosis) MSH2017_2016_08_12:Rare form of hemophagocytic lymphohistiocytosis with multiorgan involvement seen in infants and young children | NCI2016_02D:A rare, life-threatening disorder usually appearing during the first few months of life. It is caused by abnormalities in the PRF1, UNC13D, and STX11 genes. It is characterized by histiocytic proliferation and phagocytosis. Patients present with fever, lymphadenopathy, and hepatosplenomegaly. ICD10CM_2017:D76.1|MSH2017_2016_08_12:D051359|OMIM2016_04_17:267700|SNOMEDCT_US_2016_09_01:191353008|SNOMEDCT_US_2016_09_01:234592003|SNOMEDCT_US_2016_09_01:33374000|SNOMEDCT_US_2016_09_01:398250003 C0033835 Pseudopseudohypoparathyroidism ALBRIGHT HEREDITARY OSTEODYSTROPHY WITHOUT MULTIPLE HORMONE RESISTANCE | Albright Hereditary Osteodystrophy without Multiple Hormone Resistance | Albright hereditary osteodystrophy type 2 | Normocalcaemic pseudohypoparathyroidism | Normocalcemic pseudohypoparathyroidism | Normocalcemic pseudohypoparathyroidism (disorder) | Normocalcemic pseudohypoparathyroidism (disorder) [Ambiguous] | PPHP | PSEUDOPSEUDOHYPOPARATHYROIDISM | Pseudo Pseudohypoparathyroidism | Pseudo-Pseudohypoparathyroidism | Pseudo-Pseudohypoparathyroidisms | Pseudo-pseudohypoparathyroidism | Pseudopseudo Hypoparathyroidism | Pseudopseudo-Hypoparathyroidism | Pseudopseudo-Hypoparathyroidisms | Pseudopseudohypoparathyroidism | Pseudopseudohypoparathyroidism (disorder) | Pseudopseudohypoparathyroidism [Disease/Finding] | Pseudopseudohypoparathyroidisms | pseudo pseudo hypoparathyroidism | pseudo-pseudohypoparathyroidism | pseudopseudohypoparathyroidism | pseudopseudohypoparathyroidism (PPHP) | pseudopseudohypoparathyroidism (diagnosis) MSH2017_2016_08_12:A form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for the abnormal response to hormones such as PARATHYROID HORMONE. It is associated with paternally inherited mutant alleles of the ALPHA CHAIN OF STIMULATORY G PROTEIN. MSH2017_2016_08_12:D011556|OMIM2016_04_17:139320|OMIM2016_04_17:612463|SNOMEDCT_US_2016_09_01:190867002|SNOMEDCT_US_2016_09_01:237659007|SNOMEDCT_US_2016_09_01:8084001 C2931401 Long qt syndrome type 3 Long QT syndrome type 3 MSH2017_2016_08_12:C537034 C1855305 Ter haar syndrome FRANK-TER HAAR SYNDROME | FTHS | Frank Ter Haar syndrome | Frank-Ter Haar Syndrome | MELNICK-NEEDLES SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY | Megalocornea, multiple skeletal anomalies, and developmental delay | TER HAAR SYNDROME | Ter Haar syndrome | ter Haar syndrome JABL99:A syndrome of bone dysplasia, craniofacial abnormalities, congenital glaucoma, hypertelorism, congenital heart defect, kyphoscoliosis, skeletal dysplasia, and developmental delay. Originally considered a form of the Melnick-Needles syndrome, ter Haar syndrome is now recognized a separate entity which, in addition to the Melnick-Needles phenotype, includes congenital heart defect and glaucoma. MSH2017_2016_08_12:C537274|OMIM2016_04_17:249420|OMIM2016_04_17:613293 C2702819 Compression arthralgia of right humerus or elbow compression arthralgia of right humerus or elbow | compression arthralgia of right humerus or elbow (diagnosis) C1275339 Necrobiotic xanthogranuloma Necrobiotic Xanthogranuloma | Necrobiotic Xanthogranuloma [Disease/Finding] | Necrobiotic Xanthogranulomas | Necrobiotic xanthogranuloma | Necrobiotic xanthogranuloma (disorder) | Xanthogranuloma, Necrobiotic | Xanthogranulomas, Necrobiotic MSH2017_2016_08_12:A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated ERYTHROCYTE SEDIMENTATION RATE; LEUKOPENIA; and MONOCLONAL GAMMOPATHY (IgG-kappa type) and systemic involvement. MSH2017_2016_08_12:D058252|SNOMEDCT_US_2016_09_01:404164003 C0158551 Embryonal nuclear cataract (disorder) Cataract, congenital nuclear | Cataract, embryonal nuclear | Congenital nuclear cataract | Embryonal nuclear cataract | Embryonal nuclear cataract (disorder) | cataract; embryonal nuclear | cataract; nuclear embryonal | congenital nuclear cataract | congenital nuclear cataract (diagnosis) | nuclear; cataract, embryonal HPO2016_07_04:A type of congenital cataract in which the opacities are confined to a small central area within the embryonic or fetal nuclei of the Iens. The remaining lens is clear. [HPO:probinson] HPO2016_07_04:HP:0008024|ICD9CM_2014:743.33|OMIM2016_04_17:MTHU041199|OMIM2016_04_17:MTHU042534|SNOMEDCT_US_2016_09_01:5361003 C1274708 Central centrifugal cicatricial alopecia Central centrifugal cicatricial alopecia | Central centrifugal cicatricial alopecia (disorder) | Hot comb alopecia | Hot comb alopecia (disorder) SNOMEDCT_US_2016_09_01:109441000119102|SNOMEDCT_US_2016_09_01:403333002 C0013369 Dysentery DYSENTERY | Diarrhea infectious | Diarrhea-infective NOS | Diarrhea: [infectious] or [travellers] | Diarrheal Disease, Infectious | Diarrhoea infectious | Diarrhoea-infective NOS | Diarrhoea: [infectious] or [travellers] | Diarrhoea: [infectious] or [travellers] (disorder) | Dysentery | Dysentery (diagnosis) | Dysentery (disorder) | Dysentery NOS | Dysentery [Disease/Finding] | Dysentery, NOS | Dysyntery | Infectious Diarrheal Disease | Infectious Diarrheal Diseases | Infectious diarrhea | Infectious diarrhea NOS | Infectious diarrhea NOS (disorder) | Infectious diarrheal disease | Infectious diarrheal disease (disorder) | Infectious diarrheal disease NOS | Infectious diarrheal disease, NOS | Infectious diarrhoea | Infectious diarrhoea NOS | Infectious diarrhoea NOS (disorder) | Infectious diarrhoeal disease | Infectious diarrhoeal disease, NOS | Infective diarrhea | Infective diarrhea (disorder) | Infective diarrhoea | diarrhea; infectious | dysenteries | dysentery | dysyntery | infectious diarrhea | infectious diarrhea (diagnosis) | infectious diarrhoea | infectious; diarrhea | intestinal infections dysentery MSH2017_2016_08_12:Acute inflammation of the intestine associated with infectious DIARRHEA of various etiologies, generally acquired by eating contaminated food containing TOXINS, BIOLOGICAL derived from BACTERIA or other microorganisms. Dysentery is characterized initially by watery FECES then by bloody mucoid stools. It is often associated with ABDOMINAL PAIN; FEVER; and DEHYDRATION. ICD9CM_2014:009.2|MSH2017_2016_08_12:D004403|OMIM2016_04_17:MTHU047817|SNOMEDCT_US_2016_09_01:111939009|SNOMEDCT_US_2016_09_01:154268000|SNOMEDCT_US_2016_09_01:154279005|SNOMEDCT_US_2016_09_01:186165000|SNOMEDCT_US_2016_09_01:186167008|SNOMEDCT_US_2016_09_01:19213003|SNOMEDCT_US_2016_09_01:236076004|SNOMEDCT_US_2016_09_01:266173000|SNOMEDCT_US_2016_09_01:266180003 C1838260 Diabetes mellitus, insulin-dependent, 5 DIABETES MELLITUS, INSULIN-DEPENDENT, 5 | Diabetes Mellitus, Insulin-Dependent, 5 | IDDM5 | INSULIN-DEPENDENT DIABETES MELLITUS 5 | Insulin-Dependent Diabetes Mellitus 5 MSH2017_2016_08_12:C563958|OMIM2016_04_17:600320|OMIM2016_04_17:608829 C2118395 Fetal tachycardia before onset of labor fetal tachycardia before onset of labor | fetal tachycardia before onset of labor (diagnosis) C2984092 Hepatocellular carcinoma by ajcc v7 stage Hepatocellular Carcinoma by AJCC v7 Stage NCI2016_02D:A term that refers to the staging of hepatocellular carcinoma according to the American Joint Committee on Cancer, 7th edition. C1761609 Aspiration pneumonitis ASPIRATION PNEUMONITIS | Aspiration Pneumonia | Aspiration Pneumonitis | Aspiration pneumonitis | Aspiration pneumonitis (disorder) | Aspiration pneumonitis, NOS | Pneumonitis aspiration NCI2016_02D:Inflammation of the lungs due to the inhalation of solid or liquid material. SNOMEDCT_US_2016_09_01:155597006|SNOMEDCT_US_2016_09_01:47839005 C0277959 Coarse hair Coarse hair | Coarse hair (finding) | Coarse hair texture | HAIR COARSENESS | Thick hair | coarse hair | coarse hair texture | coarse hair texture (physical finding) | hair texture coarse | thick hair HPO2016_07_04:Hair shafts are rough in texture. [HPO:probinson] HPO2016_07_04:HP:0002208|OMIM2016_04_17:MTHU004146|SNOMEDCT_US_2016_09_01:48610005 C0015773 Felty syndrome FELTY SYNDROME | FELTYS SYNDROME | Felty | Felty Syndrome | Felty Syndrome [Disease/Finding] | Felty syndrome | Felty's Syndrome | Felty's syndrome | Felty's syndrome (diagnosis) | Felty's syndrome (disorder) | Felty's syndrome, site unspecified | Felty's syndrome, unspecified site | Feltys Syndrome | Rheumatoid arthritis with splenoadenomegaly and leukopenia | Rheumatoid arthritis, leucopenia AND splenomegaly | Rheumatoid arthritis, leukopenia AND splenomegaly | Rheumatoid arthritis, leukopenia and splenadenomegaly | Rheumatoid arthritis, leukopenia and splenomegaly | Rheumatoid arthritis-hypersplenism syndrome | Syndrome, Felty | Syndrome, Felty's | arthritis; rheumatoid, with splenoadenomegaly and leukopenia | felty syndrome | felty's syndrome | feltys syndrome | rheumatoid; arthritis, with splenoadenomegaly and leukopenia MSH2017_2016_08_12:A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY. | NCI2016_02D:A syndrome characterized by the presence of rheumatoid arthritis, splenomegaly, and granulocytopenia. Patients are at an increased risk of infection because of the low white cell counts. ICD10CM_2017:M05.0|ICD10CM_2017:M05.00|ICD9CM_2014:714.1|MSH2017_2016_08_12:D005258|OMIM2016_04_17:134750|SNOMEDCT_US_2016_09_01:156482001|SNOMEDCT_US_2016_09_01:57160007 C1854104 Thyroid carcinoma, papillary, with papillary renal neoplasia PRN1 | PTCPRN | THYROID CARCINOMA, PAPILLARY, WITH PAPILLARY RENAL NEOPLASIA | Thyroid Carcinoma, Papillary, With Papillary Renal Neoplasia MSH2017_2016_08_12:C565310|OMIM2016_04_17:605642 C0013240 Alveolar osteitis Alveolar Osteitides | Alveolar Osteitis | Alveolar Periostitides | Alveolar Periostitis | Alveolar osteitis | Alveolar periostitis | Alveolar periostitis (diagnosis) | Alveolar periostitis (disorder) | Alveolitis Sicca Dolorosa | Alveolitis of jaw | Alveolitis of jaw (disorder) | Alveolitis of jaw NOS | Alveolitis of jaw NOS (disorder) | Alveolitis of jaw, NOS | Alveolitis of jaws | Alveolitis sicca dolorosa | Dry Socket | Dry Socket [Disease/Finding] | Dry Sockets | Dry socket | Dry socket NOS | Dry tooth socket | Dry tooth socket (disorder) | Osteitides, Alveolar | Osteitis, Alveolar | Periostitides, Alveolar | Periostitis, Alveolar | Socket, Dry | Sockets, Dry | alveolar osteitis | alveolar; osteitis | alveolar; periostitis | alveolitis of jaw | alveolitis of jaw (diagnosis) | alveolitis sicca dolorosa | alveolitis; jaw | dry socket | dry socket alveolitis of jaw | dry socket alveolitis of jaw (diagnosis) | dry socket tooth | dry sockets | dry tooth socket | dry; socket | jaw; alveolitis | osteitis; alveolar | periostitis alveolar | periostitis; alveolar | socket; dry | tooth dry socket MSH2017_2016_08_12:A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed) ICD10CM_2017:M27.3|ICD9CM_2014:526.5|MSH2017_2016_08_12:D004368|SNOMEDCT_US_2016_09_01:12033006|SNOMEDCT_US_2016_09_01:196465007|SNOMEDCT_US_2016_09_01:196466008|SNOMEDCT_US_2016_09_01:196467004|SNOMEDCT_US_2016_09_01:251331003|SNOMEDCT_US_2016_09_01:61804006 C3552574 Hypogonadotropic hypogonadism 6 with or without anosmia HH6 | HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA OMIM2016_04_17:600483|OMIM2016_04_17:612702 C1834329 Retinitis pigmentosa 27 RETINITIS PIGMENTOSA 27 | RP27 | Retinitis Pigmentosa 27 MSH2017_2016_08_12:C563526|OMIM2016_04_17:162080|OMIM2016_04_17:613750 C0748297 Renal failure acute oliguric Acute oliguric renal failure | RENAL FAILURE ACUTE OLIGURIC C1849322 Sandhoff disease, infantile type SANDHOFF DISEASE, INFANTILE TYPE | Sandhoff Disease, Infantile Type MSH2017_2016_08_12:C564827|OMIM2016_04_17:268800 C0019158 Hepatitis HEPATITIS | HEPATITIS NONSPECIFIC | HEPATITIS NOS | Hepatitides | Hepatitis | Hepatitis (disorder) | Hepatitis NOS | Hepatitis [Disease/Finding] | Hepatitis nonspecific | Hepatitis unspecified | Hepatitis unspecified (disorder) | Hepatitis unspecified NOS | Hepatitis unspecified NOS (disorder) | Hepatitis, NOS | Hepatitis, unspecified | Inflammatory disease of liver | Inflammatory disease of liver (disorder) | Inflammatory disorder of liver | Inflammatory liver disease | Inflammatory liver disease, unspecified | Liver inflammation | Nonspecific hepatitis | disease (or disorder); liver, inflammatory | hepatitides | hepatitis | hepatitis (diagnosis) | inflammation; liver | inflammatory liver disease | liver; disease, inflammatory | liver; inflammation | nonspecific hepatitis | unspecified hepatitis CSP2006:inflammation of the liver and liver disease involving degenerative or necrotic alterations of hepatocytes. | HPO2016_07_04:Inflammation of the liver. [HPO:probinson] | MEDLINEPLUS_20151021:Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver.
Viruses cause most cases of hepatitis. The type of hepatitis is named for the virus that causes it; for example, hepatitis A, hepatitis B or hepatitis C. Drug or alcohol use can also cause hepatitis. In other cases, your body mistakenly attacks healthy cells in the liver.
Some people who have hepatitis have no symptoms. Others may have
Some forms of hepatitis are mild, and others can be serious. Some can lead to scarring, called cirrhosis, or to liver cancer.
Sometimes hepatitis goes away by itself. If it does not, it can be treated with drugs. Sometimes hepatitis lasts a lifetime. Vaccines can help prevent some viral forms.
| MSH2017_2016_08_12:INFLAMMATION of the LIVER. | NCI2016_02D:Inflammation of the liver; usually from a viral infection, but sometimes from toxic agents. | NCI2016_NCI-GLOSS_1602D:Disease of the liver causing inflammation. Symptoms include an enlarged liver, fever, nausea, vomiting, abdominal pain, and dark urine. | NCI2016_NICHD_1602D:Inflammation of the liver. HPO2016_07_04:HP:0012115|ICD10CM_2017:K75.9|ICD9CM_2014:573.3|MSH2017_2016_08_12:D006505|SNOMEDCT_US_2016_09_01:128241005|SNOMEDCT_US_2016_09_01:197351001|SNOMEDCT_US_2016_09_01:197353003|SNOMEDCT_US_2016_09_01:29001004 C0003476 Castration anxiety Anxiety, Castration | Castration Anxiety | Castration Complex | Castration Complices | Castration anxiety | Castration anxiety complex | Castration anxiety complex (finding) | Complex, Castration | Complices, Castration | castration anxiety | castration complex MSH2017_2016_08_12:Anxiety due to fantasized injuries to or loss of the genitals. MSH2017_2016_08_12:D001009|SNOMEDCT_US_2016_09_01:304896009 C0079924 Oligohydramnios Deficient liquor | OLIGOHYDRAMNIOS | Oligohydramnios | Oligohydramnios (disorder) | Oligohydramnios NOS | Oligohydramnios NOS (disorder) | Oligohydramnios [Disease/Finding] | Oligohydramnios unspecified | Oligohydramnios unspecified (disorder) | Oligohydramnios, NOS | Oligohydramnios, unspecified trimester | Reduced Amniotic Fluid | Reduced liquor volume | Scanty liquor | oligohydramnios | oligohydramnios (diagnosis) HPO2016_07_04:Diminished amniotic fluid volume in pregnancy. [HPO:probinson] | MSH2017_2016_08_12:A condition of abnormally low AMNIOTIC FLUID volume. Principal causes include malformations of fetal URINARY TRACT; FETAL GROWTH RETARDATION; GESTATIONAL HYPERTENSION; nicotine poisoning; and PROLONGED PREGNANCY. | NCI2016_02D:A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm.(NICHD) | NCI2016_CDISC_1602D:Reduced or less than normal amount of amniotic fluid. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) | NCI2016_NICHD_1602D:A lower than normal quantity of amniotic fluid in the amniotic sac. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm. HPO2016_07_04:HP:0001562|ICD10CM_2017:O41.0|ICD10CM_2017:O41.00|ICD9CM_2014:658.0|MSH2017_2016_08_12:D016104|OMIM2016_04_17:MTHU036334|SNOMEDCT_US_2016_09_01:156190009|SNOMEDCT_US_2016_09_01:157051001|SNOMEDCT_US_2016_09_01:199652007|SNOMEDCT_US_2016_09_01:199656005|SNOMEDCT_US_2016_09_01:59566000 C3494979 Infantile spasms, non-intractable Infantile spasms, non-intractable | Infantile spasms, non-refractory | Infantile spasms, non-refractory (disorder) | West syndrome, non-intractable | West syndrome, non-refractory SNOMEDCT_US_2016_09_01:432031000124101 C4082169 Metatarsus varus Adductovarus, Metatarsus | Adductus, Metatarsus | Forefoot varus | In Toeing | In-Toeing | Metatarsal Varus | Metatarsus Adductovarus | Metatarsus Adductus | Metatarsus Varus | Metatarsus adductovarsus | Metatarsus adductus | Metatarsus varus | Pigeon Toed | Pigeon-Toed | Toed, Pigeon | Toeing In | Varus, Metatarsal | Varus, Metatarsus | feet talipes metatarsus adductus | metatarsus adductus | metatarsus adductus (physical finding) | metatarsus adductus was observed HPO2016_07_04:The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. [HPO:probinson, pmid:19125433] | MSH2017_2016_08_12:A foot anomaly in which the forefoot (METATARSUS) is angled inward relative to the heel. HPO2016_07_04:HP:0001840|MSH2017_2016_08_12:D000070592|OMIM2016_04_17:MTHU002374 C1867450 Pseudoxanthoma elasticum, incomplete Elasticum, Incomplete Pseudoxanthoma | Elasticums, Incomplete Pseudoxanthoma | Incomplete Pseudoxanthoma Elasticum | Incomplete Pseudoxanthoma Elasticums | PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE | Pseudoxanthoma Elasticum, Autosomal Dominant | Pseudoxanthoma Elasticum, Forme Fruste | Pseudoxanthoma Elasticum, Incomplete | Pseudoxanthoma Elasticums, Incomplete MSH2017_2016_08_12:D011561|OMIM2016_04_17:177850 C1863370 Saethre-chotzen syndrome with eyelid anomalies SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES | Saethre-Chotzen Syndrome with Eyelid Anomalies MSH2017_2016_08_12:C566325|OMIM2016_04_17:101400|OMIM2016_04_17:601622 C0272324 Mild hereditary factor viii deficiency disease 6-60% of normal factor VIII | Mild haemophilia A | Mild hemophilia A | Mild hemophilia A (disorder) | Mild hereditary factor VIII deficiency disease | Mild hereditary factor VIII deficiency disease (disorder) SCTSPA_2016_04_30:La enfermedad leve se manifiesta por actividad del factor VIII superior a 5% del valor normal | SNOMEDCT_US_2016_09_01:Mild disease manifests factor VIII activity of greater than 5% of normal SNOMEDCT_US_2016_09_01:26029002 C0581391 Chronic depression Chronic depression | Chronic depression (disorder) | chronic depression | chronic depression (diagnosis) | chronic depression (symptom) | depression chronic SNOMEDCT_US_2016_09_01:192080009 C1842353 Otosclerosis 3 OTOSCLEROSIS 3 | OTSC3 | Otosclerosis 3 MSH2017_2016_08_12:C564268|OMIM2016_04_17:608244 C0041956 Ureteral obstruction OBSTRUCTION URETER | Obstruction of ureter | Obstruction ureter | Obstruction, Ureteral | Obstruction;ureter | Obstructions, Ureteral | Occlusion NOS of ureter | Occlusion of ureter | Occlusion of ureter (disorder) | Occlusion of ureter NOS | Occlusion of ureter NOS (disorder) | Occlusion of ureter, NOS | URETER OBSTRUCTION | URETER, OBSTRUCTION | Ureter Obstruction | Ureter obstruction | Ureteral Obstruction | Ureteral Obstruction [Disease/Finding] | Ureteral Obstructions | Ureteral obstruction | Ureteric obstruction | Ureteric obstruction, NOS | Ureters--Obstructions | obstruction of ureter | obstruction of ureter (diagnosis) | obstruction ureter | obstruction; ureter | obstructions ureters | occlusion; ureter | ureter obstruction | ureter; obstruction | ureter; occlusion | ureteral obstruction | ureteric obstruction CSP2006:blockage or obstruction in the ureter, the fibromuscular tube which conveys urine from the kidney to the bladder. | HPO2016_07_04:Obstruction of the flow of urine through the ureter. [HPO:probinson] | MSH2017_2016_08_12:Blockage in any part of the URETER causing obstruction of urine flow from the kidney to the URINARY BLADDER. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as HYDRONEPHROSIS and obstructive nephropathy. | NCI2016_02D:Blockage of the normal flow of urine in the ureter. | NCI2016_NICHD_1602D:A blockage in one or both ureters. HPO2016_07_04:HP:0006000|MSH2017_2016_08_12:D014517|OMIM2016_04_17:MTHU007835|SNOMEDCT_US_2016_09_01:197809003|SNOMEDCT_US_2016_09_01:20018005|SNOMEDCT_US_2016_09_01:268235003 C1290407 Great vessel neoplasm Great Vessel Neoplasm | Great Vessel Tumor | Neoplasm of Great Vessel | Neoplasm of great vessels | Neoplasm of great vessels (diagnosis) | Neoplasm of great vessels (disorder) | Tumor of Great Vessel | neoplasm - soft tissue blood vessels great SNOMEDCT_US_2016_09_01:126737003 C1853562 Adult onset Adult onset | Adult-onset | Onset in adulthood | Onset in early adulthood HPO2016_07_04:Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. [HPO:probinson] HPO2016_07_04:HP:0003581|OMIM2016_04_17:MTHU001054|OMIM2016_04_17:MTHU002957|OMIM2016_04_17:MTHU004108|OMIM2016_04_17:MTHU034431 C0152240 Uterus bilocularis Bipartite uterus | Double uterus | Doubling of uterus | Doubling of uterus (disorder) | Doubling of uterus NOS | Doubling of uterus NOS (disorder) | Doubling of uterus any degree | Doubling of uterus unspecified | Doubling of uterus, unspecified | Doubling of uterus, unspecified (disorder) | Septate uterus | UTERUS DOUBLE | UTERUS SEPTATE | Uterus bilocularis | Uterus bilocularis (disorder) | Uterus, septate | double uterus | double; uterus | doubling of uterus | doubling uterus | duplex; uterus | septate uterus | septate uterus (diagnosis) | septated uterus | uterus bilocularis | uterus bilocularis (diagnosis) | uterus; double | uterus; duplex HPO2016_07_04:HP:0003762|ICD10CM_2017:Q51.2|ICD9CM_2014:752.2|ICD9CM_2014:752.35|OMIM2016_04_17:MTHU036825|OMIM2016_04_17:MTHU037214|SNOMEDCT_US_2016_09_01:204838008|SNOMEDCT_US_2016_09_01:204839000|SNOMEDCT_US_2016_09_01:204842006|SNOMEDCT_US_2016_09_01:22504001 C4024172 Abnormality of hair pigmentation Abnormality of hair color | Abnormality of hair pigmentation HPO2016_07_04:An abnormality of hair pigmentation (color). [HPO:curators] HPO2016_07_04:HP:0009887 C0280028 Refractory anemia with excess blasts in transformation (clinical) RAEB-T | RAEB-T - Refractory anaemia with excess blasts in transformation | RAEB-T - Refractory anemia with excess blasts in transformation | Ref anaem+exc blast with trnsf | Refr anam+xs blst+transform | Refractory Anemia with Excess Blasts in Transformation | Refractory anaemia with excess blasts in transformation | Refractory anaemia with excess blasts in transformation (clinical) | Refractory anaemia with excess of blasts with transformation | Refractory anaemia with excess of blasts with transformation -RETIRED- | Refractory anaemia+excess of blasts with transformation | Refractory anemia with excess blasts in transformation | Refractory anemia with excess blasts in transformation (clinical) | Refractory anemia with excess blasts in transformation (disorder) | Refractory anemia with excess blasts in transformation (morphologic abnormality) | Refractory anemia with excess blasts in transformation [RAEB T] | Refractory anemia with excess blasts in transformation [dup] (disorder) | Refractory anemia with excess of blasts with transformation | Refractory anemia with excess of blasts with transformation (disorder) | Refractory anemia with excess of blasts with transformation (morphologic abnormality) | Refractory anemia with excess of blasts with transformation -RETIRED- | Refractory anemia+excess of blasts with transformation | [M] Refractory anaemia with excess of blasts with transformation | [M] Refractory anemia with excess of blasts with transformation | [M]Refr anam+xs blst+transform | [M]Refractory anaemia with excess of blasts with transformation | [M]Refractory anaemia with excess of blasts with transformation (morphologic abnormality) | [M]Refractory anaemia+excess of blasts with transformation | [M]Refractory anemia with excess of blasts with transformation | [M]Refractory anemia with excess of blasts with transformation (morphologic abnormality) | [M]Refractory anemia+excess of blasts with transformation | refractory anemia with excess blasts in transformation NCI2016_02D:Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2. ICD10CM_2017:C92.0|SNOMEDCT_US_2016_09_01:110000005|SNOMEDCT_US_2016_09_01:128848007|SNOMEDCT_US_2016_09_01:189512000|SNOMEDCT_US_2016_09_01:277596001|SNOMEDCT_US_2016_09_01:64839007 C0086588 Marasmus Athrepsia | Infantile atrophy | MARASMUS | Marantic atrophy | Marasmus | Marasmus infantilis | Marasmus lactantium | Marcor | Nutritional atrophy | Nutritional marasmus | Nutritional marasmus (disorder) | Parrot atrophy of the newborn | Pedatrophia | Pedatrophy | Primary infantile atrophy | Severe malnutrition with marasmus | athrepsia | malnutrition; marasmus | malnutrition; severe, marasmus | marasmus | marasmus (diagnosis) | nutritional marasmus | severe; malnutrition, marasmus ICD10CM_2017:E41|ICD9CM_2014:261|MSH2017_2016_08_12:D011502|SNOMEDCT_US_2016_09_01:154730001|SNOMEDCT_US_2016_09_01:190599003|SNOMEDCT_US_2016_09_01:267495004|SNOMEDCT_US_2016_09_01:29740003 C1368237 Solitary myofibromatosis Infantile Hemangiopericytoma | Myofibroma | Solitary Myofibromatosis NCI2016_02D:A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma. C1854774 Dermatan sulfate excretion in urine Dermatan sulfate excretion in urine | Excretion of dermatan sulfate in urine HPO2016_07_04:An increased concentration of dermatan sulfate in the urine. [HPO:gcarletti] HPO2016_07_04:HP:0008301|OMIM2016_04_17:MTHU011181|OMIM2016_04_17:MTHU042814 C1867610 Macrocephaly mesodermal hamartoma spectrum ELATTOPROTEUS SYNDROME | Elattoproteus syndrome | GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND MACROCEPHALY | Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly | Hemihypertrophy and macrocephaly | Macrocephaly mesodermal hamartoma spectrum | Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly MSH2017_2016_08_12:C537716|OMIM2016_04_17:176920 C0406549 Cutis laxa, acquired type Acquired cutis laxa | Cutis laxa, acquired type | Cutis laxa, acquired type (disorder) SNOMEDCT_US_2016_09_01:19726003 C1842892 Vascular abnormalities restricted to skin Vascular abnormalities restricted to skin HPO2016_07_04:HP:0011276|OMIM2016_04_17:MTHU002695 C4280425 Hypotrophic mandibular condyle Hypotrophic mandibular condyle HPO2016_07_04:HP:0007628 C0007114 Malignant neoplasm of skin -- Skin Cancer | CA - Skin cancer | Cancer of Skin | Cancer of skin | Cancer of the Skin | Cancer, Skin | Cancers, Skin | Mal neoplasm/skin,unspecfd | Malignant Neoplasm of Skin | Malignant Neoplasm of the Skin | Malignant Skin Neoplasm | Malignant Skin Tumor | Malignant Tumor of Skin | Malignant Tumor of the Skin | Malignant neoplasm of skin | Malignant neoplasm of skin (disorder) | Malignant neoplasm of skin NOS | Malignant neoplasm of skin NOS (disorder) | Malignant neoplasm of skin, NOS | Malignant neoplasm of skin, unspecified | Malignant neoplasms of skin | Malignant skin neoplasm NOS | Malignant tumor of skin | Malignant tumour of skin | Malignant tumour of skin (disorder) | Melanoma and Non-Melanoma Skin Cancer | Neoplasm malig;skin | SKIN CANCER | SKIN NEOPLASM MALIGNANT | Skin Cancer | Skin Cancer, Including Melanoma | Skin Cancers | Skin Neoplasm, Malignant | Skin cancer | Skin cancer, NOS | Skin cancer, nonmelanomatous (squamous and basal cell) | Skin cancers | Skin malignant neoplasm NOS | Skin neoplasm malignant | Skin neoplasm malignant NOS | Skin neoplasms malignant and unspecified | Skin--Cancer | [X]Mal neoplasm/skin,unspecfd | [X]Malignant neoplasm of skin, unspecified | [X]Malignant neoplasm of skin, unspecified (disorder) | cancer of skin | cancer of the skin | cancer skin | cancers skin | malignant neoplasm of skin | malignant neoplasm of skin (diagnosis) | malignant neoplasm skin | malignant neoplasm skin nos | malignant neosplasm of the skin | malignant skin neoplasm | malignant tumor of skin | of skin cancer | of the skin cancer | skin cancer | skin cancer (diagnosis) | skin cancers MEDLINEPLUS_20151021:Skin cancer is the most common form of cancer in the United States. The two most common types are basal cell cancer and squamous cell cancer. They usually form on the head, face, neck, hands, and arms. Another type of skin cancer, melanoma, is more dangerous but less common.
Anyone can get skin cancer, but it is more common in people who
You should have your doctor check any suspicious skin markings and any changes in the way your skin looks. Treatment is more likely to work well when cancer is found early. If not treated, some types of skin cancer cells can spread to other tissues and organs. Treatments include surgery, radiation therapy, chemotherapy, photodynamic therapy (PDT), and biologic therapy. PDT uses a drug and a type of laser light to kill cancer cells. Biologic therapy boosts your body's own ability to fight cancer.
NIH: National Cancer Institute
| NCI2016_02D:A primary or metastatic tumor involving the skin. Primary malignant skin tumors most often are carcinomas (either basal cell or squamous cell carcinomas that arise from cells in the epidermis) or melanomas that arise from pigment-containing skin melanocytes. Metastatic tumors to the skin include carcinomas and lymphomas. | NCI2016_NCI-GLOSS_1602D:Cancer that forms in the tissues of the skin. There are several types of skin cancer. Skin cancer that forms in melanocytes (skin cells that make pigment) is called melanoma. Skin cancer that forms in the lower part of the epidermis (the outer layer of the skin) is called basal cell carcinoma. Skin cancer that forms in squamous cells (flat cells that form the surface of the skin) is called squamous cell carcinoma. Skin cancer that forms in neuroendocrine cells (cells that release hormones in response to signals from the nervous system) is called neuroendocrine carcinoma of the skin. Most skin cancers form in older people on parts of the body exposed to the sun or in people who have weakened immune systems. HPO2016_07_04:HP:0008069|MSH2017_2016_08_12:D012878|OMIM2016_04_17:MTHU051693|SNOMEDCT_US_2016_09_01:188143008|SNOMEDCT_US_2016_09_01:190107001|SNOMEDCT_US_2016_09_01:363511009|SNOMEDCT_US_2016_09_01:372130007|SNOMEDCT_US_2016_09_01:94047004 C0027849 Neuroleptic malignant syndrome Malignant neuroleptic syndrome | NEUROLEPTIC MALIGNANT SYNDROME | NMS | NMS (Neuroleptic Malignant Syndrome) | NMS - Neuroleptic malignant syndrome | NMSs (Neuroleptic Malignant Syndrome) | Neuroleptic Malignant Syndrome | Neuroleptic Malignant Syndrome [Disease/Finding] | Neuroleptic Malignant Syndromes | Neuroleptic malignant | Neuroleptic malignant syndrome | Neuroleptic malignant syndrome (disorder) | Neuroleptic malignant syndrome -RETIRED- | Syndrome, Neuroleptic Malignant | Syndromes, Neuroleptic Malignant | malignant neuroleptic | malignant neuroleptic syndrome | malignant; neuroleptic syndrome | neuroleptic malignant | neuroleptic malignant syndrome | neuroleptic malignant syndrome (diagnosis) | nms | syndrome; malignant neuroleptic MSH2017_2016_08_12:A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72) | NCI2016_02D:A rare, life-threatening disorder that is caused by neuroleptic medications. It is characterized by fever, muscular cramps and rigidity, autonomic nervous system dysfunction, and changes in the mental status that may lead to coma. | NCI2016_NCI-GLOSS_1602D:A life-threatening condition that may be caused by certain drugs used to treat mental illness, nausea, or vomiting. Symptoms include high fever, sweating, unstable blood pressure, confusion, and stiffness. ICD10CM_2017:G21.0|ICD9CM_2014:333.92|MSH2017_2016_08_12:D009459|SNOMEDCT_US_2016_09_01:15244003|SNOMEDCT_US_2016_09_01:192826000|SNOMEDCT_US_2016_09_01:68977009 C2931483 Pili torti onychodysplasia Pili torti onychodysplasia | Twisted hair with nail dysplasias MSH2017_2016_08_12:C537399 C3279899 Hydrolethalus syndrome 2 HLS2 | HYDROLETHALUS SYNDROME 2 | Hydrolethalus Syndrome 2 OMIM2016_04_17:614120 C0268241 Pancreatic colipase deficiency PANCREATIC COLIPASE DEFICIENCY | Pancreatic colipase deficiency | Pancreatic colipase deficiency (disorder) OMIM2016_04_17:614338|SNOMEDCT_US_2016_09_01:69478001 C1333476 Ethmoid sinus schneiderian papilloma Ethmoid Sinus Schneiderian Papilloma | Schneiderian Papilloma of Ethmoid Sinus | Schneiderian Papilloma of the Ethmoid Sinus NCI2016_02D:A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma. C2751012 Parkinson disease 16 (disorder) PARK16 | PARKINSON DISEASE 16 | PARKINSON DISEASE 16 (disorder) | Parkinson Disease 16 MSH2017_2016_08_12:C567726|OMIM2016_04_17:613164 C2678470 Aortic aneurysm, familial abdominal 3 AAA3 | AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 3 | Aaa3 | Aortic Aneurysm, Familial Abdominal 3 MSH2017_2016_08_12:C567501|OMIM2016_04_17:611891 C4023127 Toe extensor amyotrophy Toe extensor amyotrophy HPO2016_07_04:Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes. [HPO:probinson] HPO2016_07_04:HP:0011916 C0302319 Porokeratosis, linear type Linear Porokeratosis | Linear porokeratosis | Linear porokeratosis (disorder) | Porokeratosis, Linear | Porokeratosis, linear type | Zosteriform porokeratosis MSH2017_2016_08_12:D017499|OMIM2016_04_17:MTHU048674|SNOMEDCT_US_2016_09_01:238631008 C0581381 Recurrent upper respiratory tract infection Frequent upper respiratory infections | Frequent upper respiratory tract infections | Recurrent URTI | Recurrent upper respiratory and lower respiratory infections | Recurrent upper respiratory infection | Recurrent upper respiratory infections | Recurrent upper respiratory tract infection | Recurrent upper respiratory tract infection (disorder) | Recurrent upper respiratory tract infections | UPPER RESPIRATORY INFECTION RECURRENT | Upper respiratory tract infections | Upper respiratory tract infections, recurrent | recurrent URIs | recurrent upper respiratory infections | recurrent upper respiratory infections (URI) | recurrent upper respiratory infections (history) HPO2016_07_04:An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). [HPO:probinson] HPO2016_07_04:HP:0002788|OMIM2016_04_17:MTHU002426|OMIM2016_04_17:MTHU005470|OMIM2016_04_17:MTHU008535|OMIM2016_04_17:MTHU011183|OMIM2016_04_17:MTHU011201|SNOMEDCT_US_2016_09_01:195708003 C0150914 History of tick bite History of tick bite | tick bites | tick bites (history) C3280540 Mental retardation, autosomal recessive 30 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30 | MRT30 OMIM2016_04_17:614342 C1863616 Acromelic frontonasal dysostosis ACROMELIC FRONTONASAL DYSOSTOSIS | AFND | Acromelic Frontonasal Dysostosis MSH2017_2016_08_12:C566345|OMIM2016_04_17:603671|OMIM2016_04_17:615951 C1833999 Pigmentary retinal degeneration Pigmentary retinal degeneration | Retinal pigmentary degeneration HPO2016_07_04:HP:0001146|OMIM2016_04_17:MTHU016550|OMIM2016_04_17:MTHU032605 C0344616 Congenitally corrected transposition of the great arteries Congenitally corrected transposition of great arteries | Congenitally corrected transposition of the great arteries | Congenitally corrected transposition of the great vessels | Corrected transposition of great vessels | Corrected transposition of great vessels (disorder) | Discordant ventriculoarterial connection with discordant atrioventricular connection | L-transposition | Transposition of great vessels with ventricular inversion | Transposition of the great arteries, congenitally corrected | Transposition of the great vessels, congenitally corrected HPO2016_07_04:The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta. [DDD:dbrown, pmid:21569592] HPO2016_07_04:HP:0011540|ICD9CM_2014:745.12|MSH2017_2016_08_12:C535426|SNOMEDCT_US_2016_09_01:83799000 C4021103 Abnormality of exocrine pancreas physiology Abnormal exocrine pancreatic function | Abnormality of exocrine pancreas physiology HPO2016_07_04:A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. [HPO:probinson] HPO2016_07_04:HP:0012092 C1535978 Hyperchylomicronemia Chylomicron increased | Hyperchylomicronemia | Increased chylomicrons HPO2016_07_04:Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. [HPO:probinson, MP:0009699] HPO2016_07_04:HP:0012238 C0259800 Purulent endophthalmitis nos Purulent endophthalmitis | Purulent endophthalmitis (disorder) | Purulent endophthalmitis NOS | Purulent endophthalmitis NOS (disorder) | Purulent endophthalmitis unsp. | Purulent endophthalmitis, NOS | Purulent endophthalmitis, unspecified | Unspecified purulent endophthalmitis | Unspecified purulent endophthalmitis (disorder) | endophthalmitis; purulent | purulent endophthalmitis | purulent endophthalmitis (diagnosis) | purulent; endophthalmitis ICD10CM_2017:H44.0|ICD10CM_2017:H44.00|ICD9CM_2014:360.0|ICD9CM_2014:360.00|SNOMEDCT_US_2016_09_01:193267009|SNOMEDCT_US_2016_09_01:193271007|SNOMEDCT_US_2016_09_01:41720003 C0036508 Seborrheic dermatitis Cradle Cap | DERMATITIS SEBORRHEIC | DERMATITIS SEBORRHOEIC | DERMATITIS, SEBORRHEIC | Dermatitides, Seborrheic | Dermatitis Seborrheica | Dermatitis seborrheic | Dermatitis seborrhoeic | Dermatitis, Seborrheic | Dermatitis, Seborrheic [Disease/Finding] | Dermatitis;seborrhoeic | ECZEMA, SEBORRHEIC | Eczema seborrheic | Eczema seborrhoeic | Eczema;seborrhoeic | SBD - Seborrheic dermatitis | SBD - Seborrhoeic dermatitis | SEBORRHEA | SEBORRHEIC DERMATITIS | SEBORRHOEA | SKIN SEBORRHEIC | SKIN SEBORRHOEIC | Seborheic dermatitis, unspecified | Seborrhea | Seborrhea (disorder) | Seborrhea NOS | Seborrhea NOS (disorder) | Seborrhea, NOS | Seborrheic Dermatitides | Seborrheic Dermatitis | Seborrheic Eczema | Seborrheic dermatitis | Seborrheic dermatitis (disorder) | Seborrheic dermatitis NOS | Seborrheic dermatitis, unspecified | Seborrheic diathesis | Seborrheic eczema | Seborrhoea | Seborrhoea (disorder) | Seborrhoea NOS | Seborrhoea, NOS | Seborrhoeic dermatitis | Seborrhoeic dermatitis (disorder) | Seborrhoeic dermatitis, unspecified | Seborrhoeic eczema | Skin seborrheic | Skin seborrhoeic | dermatitis seborrheica | dermatitis; seborrhea | eczema; seborrheic | seborrhea | seborrhea (diagnosis) | seborrhea; dermatitis | seborrhea; eczema | seborrheic dermatitis | seborrheic dermatitis (diagnosis) | seborrheic eczema | seborrheic; eczema | seborrhoea | seborrhoeic dermatitis | seborrhoeic eczema CHV2011_02:a kind of skin disorder affecting the scalp, face, and trunk causing scaly, flaky, itchy, red skin | HPO2016_07_04:Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. [HPO:curators] | MSH2017_2016_08_12:A chronic inflammatory disease of the skin with unknown etiology. It is characterized by moderate ERYTHEMA, dry, moist, or greasy (SEBACEOUS GLAND) scaling and yellow crusted patches on various areas, especially the scalp, that exfoliate as dandruff. Seborrheic dermatitis is common in children and adolescents with HIV INFECTIONS. | NCI2016_02D:A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching.(NICHD) | NCI2016_NICHD_1602D:A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching. HPO2016_07_04:HP:0001051|ICD10CM_2017:L21|ICD10CM_2017:L21.9|ICD9CM_2014:690.1|ICD9CM_2014:690.10|ICD9CM_2014:706.3|MSH2017_2016_08_12:D012628|OMIM2016_04_17:MTHU011118|OMIM2016_04_17:MTHU025960|SNOMEDCT_US_2016_09_01:156328004|SNOMEDCT_US_2016_09_01:156421006|SNOMEDCT_US_2016_09_01:200764003|SNOMEDCT_US_2016_09_01:201241009|SNOMEDCT_US_2016_09_01:50563003|SNOMEDCT_US_2016_09_01:86708008 C0276119 Q-fever pneumonia Pneumonia in Q fever | Pneumonia in Q fever (disorder) | Q fever pneumonia | Q-fever pneumonia | pneumonia in Q fever | pneumonia in Q fever (diagnosis) SNOMEDCT_US_2016_09_01:32286006 C0398650 Immune thrombocytopenic purpura AITP | Autoimmune Thrombocytopenia | Autoimmune Thrombocytopenias | Autoimmune Thrombocytopenic Purpura | Autoimmune Thrombocytopenic Purpuras | Autoimmune thrombocytopenic purpura | Disease, Werlhof | Disease, Werlhof's | Frank | IDIOPATHIC THROMBOCYTOPENIC PURPURA | IMMUNE THROMBOCYTOPENIC PURPURA | ITP | ITP (idiopathic thrombocytopenic purpura) | ITP (immune thrombocytopenic purpura) | ITP - Idiopathic thrombocytopenic purpura | ITP - idiopathic thrombocytopenic purpura | ITP, NOS | Ideopath thrombocytopenic pur | Idiopath Thrombocytopenic Purp | Idiopathic Thrombocytopenia | Idiopathic Thrombocytopenia Purpura | Idiopathic Thrombocytopenic Purpura | Idiopathic Thrombocytopenic Purpuras | Idiopathic purpura | Idiopathic purpura (& thrombocytopenic) | Idiopathic purpura (& thrombocytopenic) (disorder) | Idiopathic purpura, NOS | Idiopathic thrombocytopenia purpura | Idiopathic thrombocytopenic purpura | Idiopathic thrombocytopenic purpura (ITP) | Idiopathic thrombocytopenic purpura (disorder) | Idiopathic thrombocytopenic purpura, NOS | Immune Thrombocytopenia | Immune Thrombocytopenias | Immune Thrombocytopenic Purpura | Immune Thrombocytopenic Purpuras | Immune thrombocytopenic purpura | Immune thrombocytopenic purpura (disorder) | PURPURA, THROMBOCYTOPENIC, IDIOPATHIC | Purpura, Autoimmune Thrombocytopenic | Purpura, Idiopathic Thrombocytopenic | Purpura, Immune Thrombocytopenic | Purpura, Thrombocytopenic, Autoimmune | Purpura, Thrombocytopenic, Idiopathic | Purpura, Thrombocytopenic, Idiopathic [Disease/Finding] | Purpuras, Autoimmune Thrombocytopenic | Purpuras, Idiopathic Thrombocytopenic | Purpuras, Immune Thrombocytopenic | THROMBOCYTOPENIC PURPURA, AUTOIMMUNE | Thrombocytopenia, Autoimmune | Thrombocytopenia, Immune | Thrombocytopenias, Autoimmune | Thrombocytopenias, Immune | Thrombocytopenic Purpura, Autoimmune | Thrombocytopenic Purpura, Idiopathic | Thrombocytopenic Purpura, Immune | Thrombocytopenic Purpuras, Idiopathic | Thrombocytopenic Purpuras, Immune | WERLHOF DISEASE | Werlhof | Werlhof Disease | Werlhof's Disease | Werlhof's disease | Werlhof's syndrome | Werlhofs Disease | idiopathic purpura | idiopathic thrombocytopenia purpura | idiopathic thrombocytopenic purpura | idiopathic thrombocytopenic purpura (ITP) | idiopathic thrombocytopenic purpura (diagnosis) | idiopathic; purpura | immune purpura thrombocytopenic | immune thrombocytopenic purpura | immune thrombocytopenic purpura (diagnosis) | itp | purpura; idiopathic | purpura; thrombocytopenic, idiopathic | thrombocytopenic purpura immune | thrombocytopenic; purpura, idiopathic | werlhof's disease CHV2011_02:bleeding or bruising tendency due to low platelet level | MSH2017_2016_08_12:Thrombocytopenia occurring in the absence of toxic exposure or a disease associated with decreased platelets. It is mediated by immune mechanisms, in most cases IMMUNOGLOBULIN G autoantibodies which attach to platelets and subsequently undergo destruction by macrophages. The disease is seen in acute (affecting children) and chronic (adult) forms. | NCI2016_02D:An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. | NCI2016_NCI-GLOSS_1602D:A condition in which platelets (blood cells that cause blood clots to form) are destroyed by the immune system. The low platelet count causes easy bruising and bleeding, which may be seen as purple areas in the skin, mucous membranes, and outer linings of organs. | NCI2016_NICHD_1602D:Disorder characterized by abnormally low level of circulating platelets, usually with normal hemoglobin/red blood cell and white blood cell levels, and thought to be secondary to autoimmune destruction. | SCTSPA_2016_04_30:Trastorno autoinmunitario de la coagulaci贸n caracterizado por trombocitopenia aislada (recuento de plaquetas <100.000/ul), sin un trastorno subyacente que pueda asociarse con trombocitopenia | SNOMEDCT_US_2016_09_01:An autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia. HPO2016_07_04:HP:0001973|ICD10CM_2017:D69.3|ICD9CM_2014:287.31|MSH2017_2016_08_12:D016553|OMIM2016_04_17:188030|OMIM2016_04_17:MTHU002633|OMIM2016_04_17:MTHU017653|OMIM2016_04_17:MTHU040131|SNOMEDCT_US_2016_09_01:13172003|SNOMEDCT_US_2016_09_01:154825008|SNOMEDCT_US_2016_09_01:191315003|SNOMEDCT_US_2016_09_01:191316002|SNOMEDCT_US_2016_09_01:234490009|SNOMEDCT_US_2016_09_01:267567001|SNOMEDCT_US_2016_09_01:32273002 C0522206 Non-consummation of sexual intercourse Non-consummation of sexual intercourse | Non-consummation of sexual intercourse (finding) SNOMEDCT_US_2016_09_01:102956007 C2678323 C2-c3 subluxation C2-C3 subluxation HPO2016_07_04:A partial dislocation of the intervertebral joint between the second and third cervical vertebrae. [HPO:probinson] HPO2016_07_04:HP:0008456|OMIM2016_04_17:MTHU022926 C0265514 Dermatofibrosis lenticularis disseminata BOS | BUSCHKE-OLLENDORFF SYNDROME | Buschke Ollendorff syndrome | Buschke-Ollendorf syndrome | Buschke-Ollendorff syndrome | Curth's syndrome | DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS | DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS | DERMATOOSTEOPOIKILOSIS | Dermato-osteopoikilosis | Dermato-osteopoikilosis syndrome | Dermatofibrosis lenticularis disseminata | Dermatofibrosis lenticularis disseminata (disorder) | Dermatofibrosis lenticularis disseminata with osteopoikilosis | Dermatofibrosis, disseminated, with osteopoikilosis | Dermatoosteopoikilosis | Disseminated dermatofibrosis | OSTEOPATHIA CONDENSANS DISSEMINATA | Osteopathia condensans disseminata | buschke-ollendorf syndrome | buschke-ollendorff syndrome | osteopathia condensans disseminata MSH2017_2016_08_12:C537415|OMIM2016_04_17:166700|OMIM2016_04_17:607844|SNOMEDCT_US_2016_09_01:60399005|SNOMEDCT_US_2016_09_01:9147009 C0233762 Hallucinations, auditory AUDITORY HALLUCINATION | Auditory Hallucination | Auditory Hallucinations | Auditory hallucination | Auditory hallucinations | Auditory hallucinations (finding) | HALLUCINATION AUDITORY | Hallucination auditory | Hallucination, Auditory | Hallucination, auditory | Hallucinations Auditory | Hallucinations of sound | Hallucinations, Auditory | Hallucinations, auditory | [D]Hallucinations, auditory | [D]Hallucinations, auditory (context-dependent category) | [D]Hallucinations, auditory (situation) | auditory hallucination | auditory hallucination (physical finding) | auditory hallucinations | auditory; hallucination | hallucination auditory | hallucination; auditory NCI2016_02D:Perception of sound in the absence of a corresponding stimulus. | NCI2016_NICHD_1602D:Perception of sound in the absence of a corresponding stimulus. HPO2016_07_04:HP:0008765|ICD10CM_2017:R44.0|MSH2017_2016_08_12:D006212|OMIM2016_04_17:MTHU036835|SNOMEDCT_US_2016_09_01:158128001|SNOMEDCT_US_2016_09_01:206719006|SNOMEDCT_US_2016_09_01:45150006 C0020428 Hyperaldosteronism ALDOSTERONISM | Aldosteronism | Aldosteronism (disorder) | Aldosteronism NOS | Aldosteronism, NOS | Elevated plasma aldosterone | HYPERALDOSTERONISM | Hyperaldosteronaemia | Hyperaldosteronism | Hyperaldosteronism NOS | Hyperaldosteronism NOS (disorder) | Hyperaldosteronism [Disease/Finding] | Hyperaldosteronism, NOS | Hyperaldosteronism, unspecified | Increased aldosterone | Increased aldosterone production | Mineralocorticoid excess | aldosteronism | aldosteronism (diagnosis) | hyperaldosteronism CSP2006:abnormality of electrolyte function caused by excessive secretion of aldosterone by the adrenal cortex. | HPO2016_07_04:Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. [DDD:spark, HPO:probinson] | MSH2017_2016_08_12:A condition caused by the overproduction of ALDOSTERONE. It is characterized by sodium retention and potassium excretion with resultant HYPERTENSION and HYPOKALEMIA. | NCI2016_02D:Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.(NICHD) | NCI2016_NICHD_1602D:Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. HPO2016_07_04:HP:0000859|ICD10CM_2017:E26|ICD10CM_2017:E26.9|ICD9CM_2014:255.1|ICD9CM_2014:255.10|MSH2017_2016_08_12:D006929|OMIM2016_04_17:MTHU012223|OMIM2016_04_17:MTHU038571|SNOMEDCT_US_2016_09_01:154709005|SNOMEDCT_US_2016_09_01:190506003|SNOMEDCT_US_2016_09_01:190509005|SNOMEDCT_US_2016_09_01:267484005|SNOMEDCT_US_2016_09_01:88213004 C1841685 Pseudoepiphyses Pseudoepiphyses HPO2016_07_04:HP:0010584|OMIM2016_04_17:MTHU017994 C3494906 Myoclonic absence epilepsy, non-intractable Myoclonic absence epilepsy, non-intractable | Myoclonic absence epilepsy, non-refractory | Myoclonic absence epilepsy, non-refractory (disorder) | Myoclonic absence seizures, non-refractory SNOMEDCT_US_2016_09_01:431141000124100 C4025004 Ventricular preexcitation with multiple accessory pathways Ventricular preexcitation with multiple accessory pathways HPO2016_07_04:A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction. [HPO:probinson] HPO2016_07_04:HP:0006684 C0025530 Metagonimiasis Infection by Metagonimus yokogawai | Infection by Metagonimus yokogawai (disorder) | Infection caused by Metagonimus yokogawai | Infection caused by Metagonimus yokogawai (disorder) | METAGONIMIASIS | Metagonimiases | Metagonimiasis | Metagonimosis | Metagonimus infestation | Metagonimus; infestation | infestation; Metagonimus | metagonimiasis | metagonimiasis (diagnosis) ICD10CM_2017:B66.8|ICD9CM_2014:121.5|MSH2017_2016_08_12:D014201|SNOMEDCT_US_2016_09_01:37832003 C1368816 Sebaceous adenoma ADENOMA, SEBACEOUS, BENIGN | Adenoma of Sebaceous Gland | Adenoma of the Sebaceous Gland | Sebaceous Adenoma | Sebaceous Gland Adenoma | Sebaceous adenoma | Sebaceous adenoma (morphologic abnormality) | Sebaceous adenomas | Sebaceous gland adenoma | Skin Appendage Sebaceous Adenoma | [M]Sebaceous adenoma | sebaceous adenoma NCI2016_02D:A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells. | NCI2016_CDISC_1602D:A benign neoplasm arising from sebaceous glands. HPO2016_07_04:HP:0009720|OMIM2016_04_17:MTHU017045|SNOMEDCT_US_2016_09_01:78424008 C3152144 Agammaglobulinemia 1, autosomal recessive AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE | AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT | AGM1 OMIM2016_04_17:601495 C1841693 Hand and foot deformity with flat facies HAND AND FOOT DEFORMITY WITH FLAT FACIES | Hand and foot deformity with flat facies MSH2017_2016_08_12:C535626|OMIM2016_04_17:139750 C0020725 Type ii mucolipidosis Deficiency of N-acetylglucosamine-1-phosphotransferase | I Cell Disease | I cell disease | I-CELL DISEASE | I-Cell Disease | I-Cell Diseases | I-cell - Inclusion cell disease | I-cell disease | I-cell disease (diagnosis) | I-cell disease (disorder) | I-cell; disease | ICD | II; mucolipidosis | INCLUSION CELL DISEASE | Inclusion Cell Disease | Inclusion Cell Diseases | Inclusion-cell Disease | LEROY DISEASE | ML II | MUCOLIPIDOSIS II | Mucolipidoses, Type II | Mucolipidosis II | Mucolipidosis Type II | Mucolipidosis type II | Mucolipidosis, Type II | Mucolipidosis, type II | N-Acetylglucosamine-1-phosphotransferase deficiency | N-Acetylglucosamine-1-phosphotransferase deficiency (disorder) | N-acetylglucosamine-1-phosphotransferase deficiency | Type II Mucolipidoses | Type II Mucolipidosis | cell disease i | cell disease i cell inclusion | disease (or disorder); I-cell | i cell disease | i-cell disease | inclusion cell disease | mucolipidosis II | mucolipidosis ii | mucolipidosis type ii | mucolipidosis; II CSP2006:rapidly progressing disease of young children, characterized histologically by abnormal fibroblasts containing a large number of dark inclusions which fill the central part of the cytoplasm except for the juxtanuclear zone (I cells), and clinically by severe growth impairment, minimal hepatomegaly, extreme mental and motor retardation, and clear corneas; inherited as an autosomal recessive trait, it is caused by failure of lysosomal enzymes to be incorporated into lysosomes. | NCI2016_02D:An inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially fibroblasts. Signs and symptoms include developmental delay, psychomotor deterioration, and growth failure. HPO2016_07_04:HP:0003264|MSH2017_2016_08_12:D009081|OMIM2016_04_17:252500|OMIM2016_04_17:MTHU011301|SNOMEDCT_US_2016_09_01:238046002|SNOMEDCT_US_2016_09_01:70199000 C2931391 Cataract mental retardation anal atresia urinary defects Cataract mental retardation anal atresia urinary defects | Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome | Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Congenital cataract with multiple congenital anomalies in a sibship | Karandikar Maria Kamble syndrome SNOMEDCT_US_2016_09_01:This syndrome has main feature of congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. It has been described in three siblings born to nonconsanguineous parents. It is likely to be transmitted as an autosomal recessive trait. MSH2017_2016_08_12:C537009|SNOMEDCT_US_2016_09_01:715989002 C0521170 Fracture due to osteoporosis FRACTURE DUE TO OSTEOPOROSIS | Fracture due to osteoporosis | Fracture, Osteoporotic | Fracture;osteoporotic | Fractures, Osteoporotic | Low-Trauma Fracture | OSTEOPOROSIS FRACTURE | OSTEOPOROSIS WITH FRACTURE | Osteoporosis fracture | Osteoporosis with fracture | Osteoporosis with pathological fracture | Osteoporotic Fracture | Osteoporotic Fractures | Osteoporotic Fractures [Disease/Finding] | Osteoporotic fracture | Osteoporotic fracture (morphologic abnormality) | Unsp osteopor + pathol frac | Unspecified osteoporosis with pathological fracture | [X]Unsp osteopor + pathol frac | [X]Unspecified osteoporosis with pathological fracture | [X]Unspecified osteoporosis with pathological fracture (disorder) | due fractures osteoporosis | fracture osteoporosis | fracture; pathological, with osteoporosis | fractures osteoporosis | fractures osteoporotic | osteoporosis fracture | osteoporosis; with pathological fracture | osteoporotic fracture | pathological fracture; osteoporosis MSH2017_2016_08_12:Breaks in bones resulting from low bone mass and microarchitectural deterioration characteristic of OSTEOPOROSIS. | NCI2016_02D:A pathologic bone fracture due to osteoporosis. It is generally caused by a fall from a standing height or lower and usually involves the spine, hip, or wrist. MSH2017_2016_08_12:D058866|SNOMEDCT_US_2016_09_01:203885008|SNOMEDCT_US_2016_09_01:46675001 C0043325 Xanthomatosis XANTHOMATOSIS | Xanthomata | Xanthomatoses | Xanthomatosis | Xanthomatosis (disorder) | Xanthomatosis [Disease/Finding] | Xanthomatosis, NOS | xanthelasmatosis | xanthomatosis CSP2006:condition of morphologic change in which there is accumulation of lipids in the large foam cells of tissues; the cutaneous manifestation of lipidosis in which plasma fatty acids and lipoproteins are quantitatively changed. | HPO2016_07_04:The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. [HPO:curators] | MSH2017_2016_08_12:A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS. HPO2016_07_04:HP:0000991|MSH2017_2016_08_12:D014973|SNOMEDCT_US_2016_09_01:63103006 C1860081 Medium chain dicarboxylic aciduria Medium chain dicarboxylic aciduria HPO2016_07_04:HP:0008309|OMIM2016_04_17:MTHU014728 C1963211 Pericarditis adverse event Pericarditis | Pericarditis Adverse Event C0700201 Dyssomnias Dyssomnia | Dyssomnia (disorder) | Dyssomnia NOS | Dyssomnia, NOS | Dyssomnias | Dyssomnias [Disease/Finding] | Have Problem with Sleep | I had a problem with my sleep | Problem with Sleep | Sleep disturbance | Sleep problem | dyssomnia | dyssomnias | sleep disturbance | sleep problem CHV2011_02:a group of disorders characterized by difficulty in going to sleep or staying asleep or excessive daytime sleepiness | MSH2017_2016_08_12:A broad category of sleep disorders characterized by either hypersomnolence or insomnia. The three major subcategories include intrinsic (i.e., arising from within the body) (SLEEP DISORDERS, INTRINSIC), extrinsic (secondary to environmental conditions or various pathologic conditions), and disturbances of circadian rhythm. (From Thorpy, Sleep Disorders Medicine, 1994, p187) | NCI2016_02D:A question about whether an individual has or had a problem with their sleep. MSH2017_2016_08_12:D020920|SNOMEDCT_US_2016_09_01:44186003 C0795895 Acd-mental retardation syndrome ACD MENTAL RETARDATION SYNDROME | ACD Mental Retardation Syndrome | ACD-mental retardation syndrome | ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME | Alopecia contractures dwarfism mental retardation | Alopecia-contractures-dwarfism mental retardation syndrome | alopecia-contractures-dwarfism-mental retardation syndrome JABL99:A syndrome of total absence of hair, extreme growth failure, mental retardation, and multiple craniofacial, skeletal, and other abnormalities. MSH2017_2016_08_12:C537051|OMIM2016_04_17:203550 C1856159 Urioste martinez-frias syndrome MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY | URIOSTE SYNDROME | Urioste Martinez-Frias syndrome | Urioste syndrome MSH2017_2016_08_12:C536478|OMIM2016_04_17:235255 C1335747 Kidney extraskeletal osteosarcoma Kidney Extraskeletal Osteosarcoma | Kidney Osteogenic Sarcoma | Kidney Osteosarcoma | Osteogenic Sarcoma of Kidney | Osteogenic Sarcoma of the Kidney | Osteosarcoma of Kidney | Osteosarcoma of the Kidney | Renal Extraskeletal Osteosarcoma | Renal Osteogenic Sarcoma | Renal Osteosarcoma NCI2016_02D:An osteosarcoma arising from the kidney. C2105254 Compression arthralgia of wrist compression arthralgia of wrist | compression arthralgia of wrist (diagnosis) C1864695 Giant axonal neuropathy, autosomal dominant Giant Axonal Neuropathy, Autosomal Dominant MSH2017_2016_08_12:C566444 C1144799 Cardiomyopathy hypertensive CARDIOMYOPATHY HYPERTENSIVE | Hypertensive cardiomyopathy | hypertensive cardiomyopathy C1970207 Inflammatory bowel disease 10 IBD10 | INFLAMMATORY BOWEL DISEASE 10 | Inflammatory Bowel Disease 10 MSH2017_2016_08_12:C567021|OMIM2016_04_17:611081 C1868679 Griscelli syndrome, type 2 Albinism, partial with immunodeficiency | GRISCELLI SYNDROME WITH HEMOPHAGOCYTIC SYNDROME | GRISCELLI SYNDROME, TYPE 2 | GS2 | Griscelli Syndrome Type 2 | Griscelli Syndrome, Type 2 | Griscelli syndrome type 2 | Griscelli syndrome with hemophagocytic syndrome | PAID SYNDROME | PAID Syndrome | PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME | Partial Albinism And Immunodeficiency Syndrome | Partial Albinism and Immunodeficiency Syndrome | Partial albinism and immunodeficiency NCI2016_02D:A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and eyes, recurrent infections, neutropenia, and immune system abnormalities. Patients are prone to develop hemophagocytic lymphohistiocytosis. MSH2017_2016_08_12:C537302|OMIM2016_04_17:603868|OMIM2016_04_17:607624 C1860860 Neuhauser daly magnelli syndrome Essential tremors, nystagmus and duodenal ulceration | Neuhauser Daly Magnelli syndrome | TREMOR, NYSTAGMUS, AND DUODENAL ULCER | Tremor nystagmus duodenal ulcer | Tremor, Nystagmus, and Duodenal Ulcer | Tremors, nystagmus and duodenal ulcers MSH2017_2016_08_12:C536406|OMIM2016_04_17:190310 C1266114 Meningeal melanomatosis Leptomeningeal Melanomatosis | Meningeal Melanomatosis | Meningeal melanomatosis | Meningeal melanomatosis (morphologic abnormality) | malignant melanomatosis of meninges | malignant melanomatosis of meninges (diagnosis) | meningeal melanomatosis NCI2016_02D:A meningeal melanoma with secondary diffuse meningeal spread. (WHO) SNOMEDCT_US_2016_09_01:128731008 C4015019 Neu-laxova syndrome 2 NEU-LAXOVA SYNDROME 2 | NLS2 OMIM2016_04_17:610936|OMIM2016_04_17:616038 C0853637 Photophobia aggravated Photophobia aggravated C0221170 Muscular stiffness MUSCLE STIFFNESS | Muscle Stiffness | Muscle stiffness | Muscle stiffness (finding) | Muscular stiffness | STIFFNESS MUSCLE | Stiff | Stiff Muscles | Stiffness muscle | Stiffness;muscle(s) | muscle stiffness | muscle stiffness (symptom) | muscles stiffness | muscular stiffness | stiffness muscle HPO2016_07_04:A condition in which muscles cannot be moved quickly without accompanying pain or spasm. [HPO:probinson] | NCI2016_02D:A feeling of tension or tightness in one or more muscles. | NCI2016_NICHD_1602D:A feeling of tension or tightness in one or more muscles. HPO2016_07_04:HP:0003552|OMIM2016_04_17:MTHU010824|SNOMEDCT_US_2016_09_01:16046003|SNOMEDCT_US_2016_09_01:249919003 C1856255 Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative CGD DUE TO DEFICIENCY OF THE ALPHA SUBUNIT OF CYTOCHROME b | CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-NEGATIVE | CYBA DEFICIENCY | CYBA Deficiency | Chronic Granulomatous Disease due to Deficiency of the Alpha Subunit of Cytochrome B | Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Negative | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative MSH2017_2016_08_12:C565533|OMIM2016_04_17:233690|OMIM2016_04_17:608508 C0751304 Meningioma, parasagittal Meningioma, Parasagittal | Meningiomas, Parasagittal | Parasagittal Meningioma | Parasagittal Meningiomas | parasagittal meningioma | parasagittal meningioma (diagnosis) NCI2016_02D:A meningioma that affects the falx cerebri. MSH2017_2016_08_12:D008579 C1868514 Leukoencephalopathy, diffuse Diffuse leukoencephalopathy | Leukoencephalopathy, diffuse HPO2016_07_04:HP:0006994|OMIM2016_04_17:MTHU016309 C1263846 Attention deficit hyperactivity disorder ADD | ADD - Attention deficit disorder with hyperactivity | ADDH | ADHD | ADHD (attention deficit hyperactivity disorder) | ADHD (attention-deficit hyperactivity disorder) | ADHD - Attention deficit disorder with hyperactivity | ADHD, predominantly hyperactive-impulsive type | ATTENTION DEFICIT HYPERACTIVITY DISORDER | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | Attention Deficit Disorder with Hyperactivity | Attention Deficit Disorder with Hyperactivity [Disease/Finding] | Attention Deficit Disorders with Hyperactivity | Attention Deficit Hyperactivity Disorder | Attention Deficit Hyperactivity Disorders | Attention Deficit-Hyperactivity Disorder | Attention Deficit-Hyperactivity Disorders | Attention Deficit/Hyperactivity Disorder | Attention deficit | Attention deficit disorder | Attention deficit disorder (disorder) | Attention deficit disorder of childhood with hyperactivity | Attention deficit disorder with hyperactivity | Attention deficit disorder with hyperactivity syndrome | Attention deficit hyperactivity disorder | Attention deficit hyperactivity disorder (ADHD) | Attention deficit hyperactivity disorder (disorder) | Attention deficit hyperactivity disorder, hyperactive impulsive type | Attention deficit hyperactivity disorder, predominantly hyperactive impulsive type | Attention deficit hyperactivity disorder, predominantly hyperactive impulsive type (disorder) | Attention deficit hyperkinetic disorder | Attention deficit-hyperactivity disorder | Attention deficit-hyperactivity disorder (ADHD) | Attention deficit/hyperactivity disorder | Attention deficit/hyperactivity disorder NOS | Attention deficits | Attention-Deficit Disorder, Predominantly Hyperactive-Impulsive Type | Attention-deficit hyperactivity disorder | Attention-deficit hyperactivity disorder NOS | Attention-deficit hyperactivity disorders | Childhood attention deficit/hyperactivity disorder | Childhood hyperkinetic syndrome | Childhood hyperkinetic syndrome (disorder) | Deficit-Hyperactivity Disorder, Attention | Deficit-Hyperactivity Disorders, Attention | Disorder, Attention Deficit-Hyperactivity | Disorder;attent deficit(hyper) | Disorders, Attention Deficit-Hyperactivity | HYPERACTIVITY OF CHILDHOOD | HYPERKINETIC SYNDROME | Hyperactive child syndrome | Hyperactivity Disorder NOS | Hyperactivity Disorder, Predominantly Hyperactive-Impulsive Type | Hyperkinetic Syndrome | Hyperkinetic disorder | Hyperkinetic disorder, unsp | Hyperkinetic disorder, unspecified | Hyperkinetic disorders | Hyperkinetic syndrome | Hyperkinetic syndrome NOS | Hyperkinetic syndrome NOS (disorder) | Hyperkinetic syndrome of childhood | Overactive child syndrome | SYNDROME HYPERKINETIC | Syndrome hyperkinetic | Syndromes, Hyperkinetic | Unspecified hyperkinetic syndrome | Unspecified hyperkinetic syndrome of childhood | [X]Hyperkinetic disorder, unsp | [X]Hyperkinetic disorder, unspecified | [X]Hyperkinetic disorder, unspecified (disorder) | addh | attention deficit disorder | attention deficit disorder with hyperactivity | attention deficit disorder; with hyperactivity | attention deficit hyper disorder | attention deficit hyperactivity disorder | attention deficit hyperactivity disorder (ADHD) | attention deficit(hyper) disorder | attention deficits disorder hyper | attention-deficit hyperactivity disorder | attention-deficit hyperactivity disorder (diagnosis) | child; hyperactivity | childhood hyperkinetic syndrome | disorder hyperactivity | disorder; attention deficit, with hyperactivity (ADHD) | disorder; hyperactivity | disorder; hyperkinetic | hyperactive child syndrome | hyperactivity disorder | hyperactivity; child | hyperactivity; disorder | hyperkinetic disorder | hyperkinetic syndrome | hyperkinetic; disorder | hyperkinetic; syndrome | minimal brain dysfunction | syndrome; hyperkinetic | unspecified hyperkinetic syndrome of childhood | unspecified hyperkinetic syndrome of childhood (diagnosis) HPO2016_07_04:Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. [HPO:curators] | MEDLINEPLUS_20151021:Is it hard for your child to sit still? Does your child act without thinking first? Does your child start but not finish things? If so, your child may have attention deficit hyperactivity disorder (ADHD). Nearly everyone shows some of these behaviors at times, but ADHD lasts more than 6 months and causes problems in school, at home and in social situations.
ADHD is more common in boys than girls. It affects 3-5 percent of all American children.
The main features of ADHD are
No one knows exactly what causes ADHD. It sometimes runs in families, so genetics may be a factor. There may also be environmental factors.
A complete evaluation by a trained professional is the only way to know for sure if your child has ADHD. Treatment may include medicine to control symptoms, therapy, or both. Structure at home and at school is important. Parent training may also help.
NIH: National Institute of Mental Health
| MSH2017_2016_08_12:A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-V) | NCI2016_02D:A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). At least some of the symptoms must be present before the age of 7 years. | NCI2016_NICHD_1602D:A neurodevelopmental disorder presenting in early childhood that is characterized by chronic and excessive inattention, overactivity, and/or impulsivity. | PSY2004:A behavior disorder in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. HPO2016_07_04:HP:0007018|ICD10CM_2017:F90|ICD10CM_2017:F90.9|ICD9CM_2014:314|ICD9CM_2014:314.01|ICD9CM_2014:314.9|MSH2017_2016_08_12:D001289|OMIM2016_04_17:143465|OMIM2016_04_17:MTHU018058|OMIM2016_04_17:MTHU022819|OMIM2016_04_17:MTHU031256|OMIM2016_04_17:MTHU044920|OMIM2016_04_17:MTHU045734|SNOMEDCT_US_2016_09_01:154940006|SNOMEDCT_US_2016_09_01:154951006|SNOMEDCT_US_2016_09_01:154952004|SNOMEDCT_US_2016_09_01:192126003|SNOMEDCT_US_2016_09_01:192129005|SNOMEDCT_US_2016_09_01:192134009|SNOMEDCT_US_2016_09_01:192592000|SNOMEDCT_US_2016_09_01:192596002|SNOMEDCT_US_2016_09_01:192634008|SNOMEDCT_US_2016_09_01:229713001|SNOMEDCT_US_2016_09_01:229717000|SNOMEDCT_US_2016_09_01:406506008|SNOMEDCT_US_2016_09_01:42584006|SNOMEDCT_US_2016_09_01:7461003 C0154695 Diplegic infantile cerebral palsy Cerebral Palsy, Diplegic, Infantile | Congenital diplegia | Diplegic Infantile Cerebral Palsy | Diplegic infantile cerebral palsy | Infantile Cerebral Palsy, Diplegic | Infantile cerebral palsy, diplegic ICD9CM_2014:343.0|MSH2017_2016_08_12:D002547|SNOMEDCT_US_2016_09_01:275469001 C1855548 Laron syndrome type 2 GROWTH HORMONE INSENSITIVITY DUE TO POSTRECEPTOR DEFECT | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | Growth Hormone Insensitivity Due To Postreceptor Defect | Growth Hormone Insensitivity With Immunodeficiency | LARON SYNDROME DUE TO POSTRECEPTOR DEFECT | Laron syndrome due to postreceptor defect | Laron syndrome type 2 | Laron type dwarfism 2 MSH2017_2016_08_12:C537871|OMIM2016_04_17:245590|OMIM2016_04_17:604260 C1858496 Advanced sleep-phase syndrome, familial Advanced Sleep-Phase Syndrome, Familial | Familial advanced sleep phase syndrome | Familial advanced sleep phase syndrome (disorder) | Fasps SNOMEDCT_US_2016_09_01:A very rare circadian rhythm sleep disorder with main features of very early sleep onset and offset possibly resulting in emotional and physical disruptions. MSH2017_2016_08_12:C565789|SNOMEDCT_US_2016_09_01:715829003 C3275438 Autism, susceptibility to, x-linked 5 AUTISM, SUSCEPTIBILITY TO, X-LINKED 5 | AUTSX5 OMIM2016_04_17:300847|OMIM2016_04_17:312173 C0221357 Brachydactyly BRACHYDACTYLY | Brachydactylia | Brachydactylias | Brachydactylies | Brachydactylism | Brachydactylisms | Brachydactyly | Brachydactyly (disorder) | Brachydactyly NOS | Brachydactyly NOS (disorder) | Brachydactyly [Disease/Finding] | Brachydactyly syndrome | brachydactyly | brachydactyly (physical finding) | brachydactyly was noted HPO2016_07_04:Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely. [HPO:probinson] | MSH2017_2016_08_12:Congenital anomaly of abnormally short fingers or toes. HPO2016_07_04:HP:0001156|MSH2017_2016_08_12:D059327|OMIM2016_04_17:MTHU000073|SNOMEDCT_US_2016_09_01:156990008|SNOMEDCT_US_2016_09_01:205248005|SNOMEDCT_US_2016_09_01:253915006|SNOMEDCT_US_2016_09_01:268342001|SNOMEDCT_US_2016_09_01:43476002 C4025850 Increased adipose tissue around the neck Increased adipose tissue around the neck | Increased fat around the neck HPO2016_07_04:An increased amount of subcutaneous fat tissue around the neck. [HPO:probinson] HPO2016_07_04:HP:0000468 C0743583 Esophageal reflux dyspepsia ESOPHAGEAL REFLUX DYSPEPSIA C0002625 Amnestic disorder AMNESTIC SYNDROME | Amnesic syndrome | Amnestic Disorder | Amnestic disorder | Amnestic disorder (disorder) | Amnestic disorder NOS | Amnestic disorder in conditions classified elsewhere | Amnestic disorder, NOS | Amnestic disorders | Amnestic syndrome | Korsakoff's psychosis or syndrome | Nonalcoholic Korsakoff's psychosis or syndrome | amnesic syndrome | amnestic disorder | amnestic disorder (diagnosis) | amnestic disorders | amnestic syndrome | organic amnestic syndrome | organic; amnestic syndrome | syndrome; organic amnesic ICD9CM_2014:294.0|SNOMEDCT_US_2016_09_01:3298001 C1744708 Carcinoma trachea Ca trachea | Cancer of Trachea | Cancer of the Trachea | Carcinoma of Trachea | Carcinoma of the Trachea | Carcinoma;trachea | Trachea Cancer | Trachea Carcinoma | Trachea carcinoma | Trachea--Cancer | Tracheal Carcinoma | Tracheal cancer | carcinoma of the trachea | carcinoma of trachea | carcinoma of trachea (diagnosis) | carcinoma trachea | trachea carcinoma | tracheal cancer | tracheal carcinoma NCI2016_02D:Malignant epithelial neoplasm arising from the tracheal mucosa. SNOMEDCT_US_2016_09_01:154486000|SNOMEDCT_US_2016_09_01:269562004 C0042216 Poxvirus officinalis Poxvirus officinale | VACCINIA VIRUS | VV | Vaccinia | Vaccinia Virus | Vaccinia virus | Vaccinia virus (organism) | Vaccinia viruses | poxvirus officinalis | recombinant vaccinia virus | vaccinia virus | vaccinia virus VV CSP2006:does not occur in nature, propagated in the laboratory for use as an active vaccine against smallpox; possibly a derivative or recombinant of cowpox or smallpox viruses; used experimentally as a vector for genes expressing foreign protein antigens. | MSH2017_2016_08_12:The type species of ORTHOPOXVIRUS, related to COWPOX VIRUS, but whose true origin is unknown. It has been used as a live vaccine against SMALLPOX. It is also used as a vector for inserting foreign DNA into animals. Rabbitpox virus is a subspecies of VACCINIA VIRUS. | NCI2016_02D:DNA viruses used in several biotechnology applications, including expression vector systems.(from On-line Medical Dictionary) | NCI2016_CDISC_1602D:Any viral organism that can be assigned to the species Vaccinia virus. MSH2017_2016_08_12:D014616|NCBI2016_03_21:10245|SNOMEDCT_US_2016_09_01:13126002 C0837139 Atherosclerosis of arteries of extremities with rest pain Atherosclerosis of arteries of extremities with rest pain | Atherosclerosis of arteries of the extremities with rest pain | atherosclerosis of extremity with rest pain | atherosclerosis of extremity with rest pain (diagnosis) C4014476 Melanoma, cutaneous malignant, susceptibility to, 10 CMM10 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 OMIM2016_04_17:606478|OMIM2016_04_17:615848 C0546323 Inferior vena cava membranous obstruction Inferior vena cava membranous obstruction | MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA | MOVC | Membranous Obstruction of Inferior Vena Cava | Membranous obstruction of inferior vena cava | Membranous obstruction of inferior vena cava (disorder) MSH2017_2016_08_12:C563013|OMIM2016_04_17:600880|SNOMEDCT_US_2016_09_01:109380002 C4025089 Shortening of all proximal phalanges of the fingers Shortening of all innermost bones of the fingers | Shortening of all proximal phalanges of the fingers HPO2016_07_04:Congenital hypoplasia of proximal phalanx of finger of all fingers. [HPO:probinson] HPO2016_07_04:HP:0006144 C1504346 Pruritus allergic Pruritus allergic C4024604 Amyotrophy of ankle musculature Amyotrophy of ankle musculature HPO2016_07_04:Atrophy of the muscles of the ankle. [HPO:probinson] HPO2016_07_04:HP:0009031 C2673196 Lipoprotein glomerulopathy LIPOPROTEIN GLOMERULOPATHY | LPG | Lipoprotein Glomerulopathy | Lipoprotein glomerulopathy | Lipoprotein glomerulopathy (diagnosis) | Lipoprotein glomerulopathy (disorder) | glomerulopathy lipoprotein MSH2017_2016_08_12:C567089|OMIM2016_04_17:107741|OMIM2016_04_17:611771|SNOMEDCT_US_2016_09_01:446923008 C4020890 Notched nasal tip Notched nasal tip | Notched tip of nose | notching of tip of nose | notching of tip of nose (diagnosis) HPO2016_07_04:HP:0000456 C1290849 Disorder characterised by oedema Disorder characterised by oedema | Disorder characterized by edema | Disorder characterized by edema (disorder) SNOMEDCT_US_2016_09_01:118654009 C0393534 Paraneoplastic cerebellar degeneration Cerebellar Degeneration, Paraneoplastic | Cerebellar Syndrome, Paraneoplastic | Cerebellar Syndromes, Paraneoplastic | Cerebellar ataxia due to neoplasia | Degeneration, Paraneoplastic Cerebellar | Paraneoplastic Cerebellar Degeneration | Paraneoplastic Cerebellar Degeneration [Disease/Finding] | Paraneoplastic Cerebellar Syndrome | Paraneoplastic Cerebellar Syndromes | Paraneoplastic cerebellar degeneration | Paraneoplastic cerebellar degeneration (disorder) | paraneoplastic cerebellar degeneration | paraneoplastic cerebellar degeneration (diagnosis) MSH2017_2016_08_12:Cerebellar degeneration associated with a remote neoplasm. Clinical manifestations include progressive limb and GAIT ATAXIA; DYSARTHRIA; and NYSTAGMUS, PATHOLOGIC. The histologic type of the associated neoplasm is usually carcinoma or lymphoma. Pathologically the cerebellar cortex and subcortical nuclei demonstrate diffuse degenerative changes. Anti-Purkinje cell antibodies (anti-Yo) are found in the serum of approximately 50% of affected individuals. (Adams et al., Principles of Neurology, 6th ed, p686) | NCI2016_02D:A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus. MSH2017_2016_08_12:D020362|SNOMEDCT_US_2016_09_01:192877007 C0549473 Thyroid carcinoma CARCINOMA OF THYROID | CARCINOMA THYROID | Cancer of Thyroid | Cancer of the Thyroid | Cancer, Thyroid | Cancers, Thyroid | Carcinoma of Thyroid | Carcinoma of Thyroid Gland | Carcinoma of the Thyroid | Carcinoma of the Thyroid Gland | Carcinoma thyroid | Carcinoma, Thyroid | Carcinoma;thyroid gland | Carcinomas, Thyroid | Head and Neck Cancer, Thyroid | THYROID CARCINOMA | Thyroid Cancer | Thyroid Cancers | Thyroid Carcinoma | Thyroid Carcinomas | Thyroid Gland Cancer | Thyroid Gland Carcinoma | Thyroid cancer | Thyroid cancer, NOS | Thyroid carcinoma | Thyroid carcinoma NOS | Thyroid gland--Cancer | carcinoma of the thyroid gland | carcinoma of thyroid | carcinoma of thyroid gland | carcinoma thyroid | carcinoma thyroid gland | thyroid cancer | thyroid cancer (diagnosis) | thyroid carcinoma | thyroid carcinoma (diagnosis) | thyroid gland carcinoma HPO2016_07_04:The presence of a carcinoma of the thyroid gland. [HPO:probinson] | MEDLINEPLUS_20151021:Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It makes hormones that help the body work normally. There are several types of cancer of the thyroid gland. You are at greater risk if you
You should see a doctor if you have a lump or swelling in your neck. Doctors use a physical exam, blood tests, imaging tests, and a biopsy to diagnose thyroid cancer. Treatment depends on the type of cancer you have and how far the cancer has spread. Many patients receive a combination of treatments. They may include surgery, radioactive iodine, hormone treatment, radiation therapy, chemotherapy, or targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells.
NIH: National Cancer Institute
| NCI2016_02D:A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. | NCI2016_NCI-GLOSS_1602D:Cancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope. | NCI2016_NICHD_1602D:A malignant neoplasm that develops or arises in the thyroid gland. HPO2016_07_04:HP:0002890|MSH2017_2016_08_12:D013964|OMIM2016_04_17:MTHU016105|OMIM2016_04_17:MTHU021058 C0409477 Ankylosis of the elbow joint Ankylosis of elbow | Ankylosis of elbow joint | Ankylosis of elbow joint (disorder) | Ankylosis of the elbow joint | Ankylosis of the elbow joint (disorder) | Ankylosis, elbow | Ankylosis, unspecified elbow | Elbow ankylosis | Elbow joint ankylosis | ankylosis of elbow joint | ankylosis of elbow joint (diagnosis) | ankylosis; elbow | elbow; ankylosis HPO2016_07_04:HP:0003070|ICD10CM_2017:M24.62|ICD10CM_2017:M24.629|OMIM2016_04_17:MTHU014408|SNOMEDCT_US_2016_09_01:156562003|SNOMEDCT_US_2016_09_01:202299008|SNOMEDCT_US_2016_09_01:202307002|SNOMEDCT_US_2016_09_01:239771003|SNOMEDCT_US_2016_09_01:410044005 C1735591 Vacterl association VACTEL Association | VACTERL Association | VACTERL Syndrome | VACTERL association | VACTERL syndrome | VATER Association | VATER Syndrome | Vertebral Abnormalities, Anal Atresia, Cardiac Abnormalities, Tracheo-Esophageal Fistula, Renal Anomalies, Limb Defects Syndrome | Vertebral Anal Tracheoesophageal Esophageal Radial anomalies | Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects (VACTERL) syndrome | Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome | Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder) | Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-oesophageal fistula, renal anomalies, limb defects (VACTERL) syndrome | Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-oesophageal fistula, renal anomalies, limb defects syndrome NCI2016_02D:An association of congenital birth defects that includes vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal abnormalities, and limb abnormalities. MSH2017_2016_08_12:C536495|SNOMEDCT_US_2016_09_01:431395004 C0042258 Vaginal neoplasms Neoplasm of Vagina | Neoplasm of the Vagina | Neoplasm of vagina | Neoplasm of vagina (disorder) | Neoplasm, Vagina | Neoplasm, Vaginal | Neoplasms, Vagina | Neoplasms, Vaginal | Tumor of Vagina | Tumor of the Vagina | Tumor of vagina | Tumour of vagina | Vagina Neoplasm | Vagina Neoplasms | Vagina Tumor | Vaginal Neoplasm | Vaginal Neoplasms | Vaginal Neoplasms [Disease/Finding] | Vaginal Tumor | Vaginal neoplasm | Vaginal neoplasm NOS | Vaginal tumor | neoplasm of vagina | neoplasm of vagina (diagnosis) | tumors vagina | vagina neoplasm | vaginal neoplasm | vaginal neoplasms CSP2006:new abnormal vaginal tissue that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease. | HPO2016_07_04:A tumor (abnormal growth of tissue) of the vagina. [HPO:probinson] | MSH2017_2016_08_12:Tumors or cancer of the VAGINA. | NCI2016_02D:A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma, angiomyofibroblastoma, and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma. HPO2016_07_04:HP:0100650|MSH2017_2016_08_12:D014625|SNOMEDCT_US_2016_09_01:126921000 C1867446 Bulging forehead Bulging forehead HPO2016_07_04:HP:0011220|OMIM2016_04_17:MTHU015851 C0234756 Vertigo, cerebellar Cerebellar vertigo | Cerebellar vertigo (disorder) | Vertigo, cerebellar | cerebral; vertigo | vertigo; cerebral SNOMEDCT_US_2016_09_01:18871009 C0571504 Co-trimoxazole allergy Co-trimoxazole allergy | Co-trimoxazole allergy (disorder) | SULFAMETHOXAZOLE/TRIMETHOPRIM ALLERGY | Sulfamethoxazole + Trimethoprim allergy | Sulfamethoxazole and trimethoprim allergy | Sulfamethoxazole and trimethoprim allergy (disorder) | Sulphamethoxazole + Trimethoprim allergy SNOMEDCT_US_2016_09_01:294594004 C0154946 Acute angle-closure glaucoma AACG - Acute angle closure glaucoma | ACUTE ANGLE CLOSURE GLAUCOMA | ANGLE CLOSURE GLAUCOMA ACUTE | Acute angle closure glaucoma | Acute angle-closure glaucoma | Acute angle-closure glaucoma (disorder) | Acute closed-angle glaucoma | Angle closure glaucoma acute | GLAUCOMA ACUTE ANGLE CLOSURE | acute angle closure glaucoma | acute angle-closure glaucoma | acute closed-angle glaucoma ICD10CM_2017:H40.21|ICD9CM_2014:365.22|SNOMEDCT_US_2016_09_01:30041005 C0342284 Bangstad syndrome BANGSTAD SYNDROME | BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES, GOITER, AND PRIMARY GONADAL INSUFFICIENCY | Bangstad syndrome | Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency | Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency (disorder) | Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goitre, and primary gonadal insufficiency MSH2017_2016_08_12:C537902|OMIM2016_04_17:210740|SNOMEDCT_US_2016_09_01:237614004 C1000483 Genus anemia Anemia | Genus Anemia | Mohria NCBI2016_03_21:12939 C2931579 Battaglia neri syndrome Battaglia Neri syndrome MSH2017_2016_08_12:C537662 C1135956 Maternal fetal relations Maternal Fetal Relations | Maternal-Fetal Relations | Mother Fetus Relations | Mother Fetus Relationship | Mother-Fetus Relations | Mother-Fetus Relationship | Mother-Fetus Relationships | Relations, Maternal-Fetal | Relations, Mother-Fetus | Relationship, Mother-Fetus | Relationships, Mother-Fetus MSH2017_2016_08_12:The bond or lack thereof between a pregnant woman and her FETUS. MSH2017_2016_08_12:D033261 C0238375 Platinosis Asthma, platinum | PLATINOSIS | Platinosis | Platinosis (disorder) | Platinum asthma | Platinum asthma (disorder) | asthma; platinum | occupational asthma due to platinum | platinum asthma | platinum asthma (diagnosis) | platinum; asthma SNOMEDCT_US_2016_09_01:404804003|SNOMEDCT_US_2016_09_01:404805002|SNOMEDCT_US_2016_09_01:80374003 C2931034 Pseudoinflammatory fundus dystrophy Pseudoinflammatory fundus dystrophy MSH2017_2016_08_12:C535828 C0205734 Diabetes, autoimmune Autoimmune Diabetes | Diabetes, Autoimmune | autoimmune diabetes | diabetes autoimmune MSH2017_2016_08_12:D003922 C1275685 Avellino corneal dystrophy ACD | AVELLINO CORNEAL DYSTROPHY | Avellino corneal dystrophy | Avellino corneal dystrophy (diagnosis) | Avellino corneal dystrophy (disorder) | CDA | CGD2 | COMBINED GRANULAR-LATTICE CORNEAL DYSTROPHY | CORNEAL DYSTROPHY, AVELLINO TYPE | Combined Granular-Lattice Corneal Dystrophy | Combined granular-lattice corneal dystrophies | Corneal Dystrophy, Avellino Type | Corneal dystrophy Avellino type | GRANULAR CORNEAL DYSTROPHY, TYPE II | Granular Corneal Dystrophy, Type II | Granular and lattice corneal dystrophies | Granular corneal dystrophy type 2 | Granular-lattice (Avellino) corneal dystrophy | Granular-lattice corneal dystrophy | corneal dystrophy avellino MSH2017_2016_08_12:C535474|OMIM2016_04_17:601692|OMIM2016_04_17:607541|SNOMEDCT_US_2016_09_01:397568004 C0432122 Interfrontal craniofaciosynostosis CRANIOSYNOSTOSIS, METOPIC | Craniosynostosis (metopic suture) | Craniosynostosis, Metopic | Interfrontal craniofaciosynostosis | Interfrontal craniofaciosynostosis (disorder) | Metopic craniosynostosis | Metopic suture craniosynostosis | TRIGNO1 | TRIGONOCEPHALY 1 | Trigonocephaly, Nonsyndromic HPO2016_07_04:HP:0011330|MSH2017_2016_08_12:C562951|OMIM2016_04_17:136350|OMIM2016_04_17:190440|OMIM2016_04_17:MTHU015190|OMIM2016_04_17:MTHU036045|SNOMEDCT_US_2016_09_01:109409003 C1832615 Hyperparathyroidism, neonatal severe HYPERPARATHYROIDISM, NEONATAL SEVERE | HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY | Hyperparathyroidism, Neonatal Severe Primary | NHPT | NSHPT | NSPH | Neonatal severe primary hyperparathyroidism | Neonatal severe primary hyperparathyroidism (disorder) SNOMEDCT_US_2016_09_01:Characterised by severe hypercalcaemia from birth and associated with major hyperparathyroidism. The prevalence is unknown, clinical manifestations are early and severe including respiratory distress, bone under mineralisation and multiple fractures. | SNOMEDCT_US_2016_09_01:Characterized by severe hypercalcemia from birth and associated with major hyperparathyroidism. The prevalence is unknown, clinical manifestations are early and severe including respiratory distress, bone under mineralization and multiple fractures. MSH2017_2016_08_12:C563375|OMIM2016_04_17:239200|OMIM2016_04_17:601199|SNOMEDCT_US_2016_09_01:715218009 C0029512 Other and unspecified noninfective gastroenteritis and colitis Other and unspecified noninfectious gastroenteritis and colitis | Other and unspecified noninfective gastroenteritis and colitis ICD10CM_2017:K52|ICD9CM_2014:558|ICD9CM_2014:558.9 C3665493 Snake bites Bite;snake | SNAKE BITE | Snake Bites | Snake bite | Snake bite (event) | Snake bite (finding) | Snake bite (morphologic abnormality) | bite; snake | snake bite | snake; bite SNOMEDCT_US_2016_09_01:125199004|SNOMEDCT_US_2016_09_01:238456006 C2749560 Methemoglobinemia, type ii METHEMOGLOBINEMIA, TYPE II | Methemoglobinemia, Type Ii MSH2017_2016_08_12:C537841|OMIM2016_04_17:250800|OMIM2016_04_17:613213 C1868599 Parietal foramina 1 PARIETAL FORAMINA 1 | PFM1 | Parietal Foramina 1 MSH2017_2016_08_12:C566827|OMIM2016_04_17:123101|OMIM2016_04_17:168500 C2677877 Surfactant metabolism dysfunction, pulmonary, 4 CSF2RA DEFICIENCY | CSF2RA Deficiency | PAP DUE TO CSF2RA DEFICIENCY | PAP due to CSF2RA Deficiency | PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 4 | Pulmonary Alveolar Proteinosis, Congenital, 4 | SMDP4 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4 | Surfactant Metabolism Dysfunction, Pulmonary, 4 MSH2017_2016_08_12:C567461|OMIM2016_04_17:300770|OMIM2016_04_17:306250 C0012814 Colon nos diverticulitis COLON NOS DIVERTICULITIS | Colon diverticulitis | Colonic Diverticulitis | Colonic diverticulitis | Diverticulitis of Colon | Diverticulitis of colon | Diverticulitis of colon (disorder) | Diverticulitis, Colonic | Diverticulitis, Colonic [Disease/Finding] | colon diverticulitis | colonic diverticulitis | diverticulitis colon | diverticulitis colonic | diverticulitis of colon | diverticulitis of colon (diagnosis) MSH2017_2016_08_12:Inflammation of the COLONIC DIVERTICULA, generally with abscess formation and subsequent perforation. MSH2017_2016_08_12:D004239|SNOMEDCT_US_2016_09_01:111359004 C0023487 Acute promyelocytic leukemia ACUTE PROMYELOCYTIC LEUKEMIA | AML M3 | AML with t(15;17)(q22;q12) | ANLL, M3 | APL | APL - Acute promyelocytic leukaemia | APL - Acute promyelocytic leukemia | APML | APML - Acute promyelocytic leukaemia | APML - Acute promyelocytic leukemia | Acute Promyelocytic Leukemia | Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML-RARA | Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML/RARA | Acute Promyelocytic Leukemias | Acute myeloid leukaemia, PML/RAR-alpha | Acute myeloid leukaemia, t(15;17)(q22;q11-12) | Acute myeloid leukemia, PML/RAR-alpha | Acute myeloid leukemia, t(15;17)(q22;q11-12) | Acute promyelocytic leukaemia | Acute promyelocytic leukaemia (clinical) | Acute promyelocytic leukaemia, FAB M3 | Acute promyelocytic leukaemia, PML/RAR-alpha | Acute promyelocytic leukaemia, t(15;17)(q22;q11-12) | Acute promyelocytic leukemia | Acute promyelocytic leukemia (clinical) | Acute promyelocytic leukemia (morphologic abnormality) | Acute promyelocytic leukemia NOS | Acute promyelocytic leukemia, FAB M3 | Acute promyelocytic leukemia, FAB M3 (disorder) | Acute promyelocytic leukemia, PML/RAR-alpha | Acute promyelocytic leukemia, t(15;17)(q22;q11-12) | Acute promyelocytic leukemia, t(15;17)(q22;q11-12) (morphologic abnormality) | Disorder: Acute promyelocytic leukemia, FAB M3 (disorder) | FAB M3 | LEUKEMIA ACUTE PROMYELOCYTIC | LEUKEMIA, ACUTE PROMYELOCYTIC | LEUKEMIA, PROMYELOCYTIC | Leukemia, Acute Promyelocytic | Leukemia, Myeloid, Acute, M3 | Leukemia, Progranulocytic | Leukemia, Promyelocytic, Acute | Leukemia, Promyelocytic, Acute [Disease/Finding] | M3 - Acute promyelocytic leukaemia | M3 - Acute promyelocytic leukemia | M3 ANLL | M3 acute promyelocytic leukemia | Myeloid Leukemia, Acute, M3 | Progranulocytic Leukemia | Promyelocytic Leukemia | Promyelocytic Leukemia, Acute | [M]Acute promyelocytic leukaemia | [M]Acute promyelocytic leukemia | acute promyelocytic leukaemia | acute promyelocytic leukemia | acute promyelocytic leukemia (diagnosis) | acute promyelocytic leukemia apl | fab m3 | leukemia acute promyelocytic | leukemia; promyelocytic | progranulocytic leukemia | promyelocytic leukemia | promyelocytic; leukemia HPO2016_07_04:A type of acute myeloid leukemia in which abnormal promyelocytes predominate. [HPO:probinson] | MSH2017_2016_08_12:An acute myeloid leukemia in which abnormal PROMYELOCYTES predominate. It is frequently associated with DISSEMINATED INTRAVASCULAR COAGULATION. | NCI2016_02D:An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and microgranular variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001) | NCI2016_NCI-GLOSS_1602D:An aggressive (fast-growing) type of acute myeloid leukemia in which there are too many immature blood-forming cells in the blood and bone marrow. It is usually marked by an exchange of parts of chromosomes 15 and 17. HPO2016_07_04:HP:0004836|ICD10CM_2017:C92.4|ICD10CM_2017:C92.40|MSH2017_2016_08_12:D015473|OMIM2016_04_17:612376|SNOMEDCT_US_2016_09_01:110004001|SNOMEDCT_US_2016_09_01:28950004 C0034960 Refsum disease Adult Refsum Disease | Adult Refsum Diseases | Classic Refsum Disease | Classic Refsum Diseases | Disease, Adult Refsum | Disease, Classic Refsum | Disease, Refsum | Disease, Refsum's | Diseases, Adult Refsum | Diseases, Classic Refsum | HEREDITARY MOTOR AND SENSORY NEUROPATHY IV | HEREDOPATHIA ATACTICA POLYNEURITIFORMIS | HMSN 4 | HMSN IV | HMSN IVs | HMSN Type IV | HMSN type IV | HMSN4 | HSMN IV | Hemeralopia Heredoataxia Polyneuritiformis | Hereditary Motor And Sensory Neuropathy IV | Hereditary Motor And Sensory Neuropathy Iv | Hereditary Motor and Sensory Neuropathy Type IV | Hereditary Motor and Sensory Neuropathy, Type IV | Hereditary Type IV Motor and Sensory Neuropathy | Hereditary motor and sensory neuropathy type IV | Hereditary motor and sensory neuropathy, type IV | Hereditary sensory-motor neuropathy, type 4 | Hereditary sensory-motor neuropathy, type IV | Heredoataxia Polyneuritiformis, Hemeralopia | Heredoataxia hemeralopica polyneuritiformis | Heredoataxic atactica polyneuritiformis | Heredoataxic hemeralopica polyneuritiformis | Heredopathia Atactica Polyneuritiformis | Heredopathia atactica polyneuritiformis | NEUROPATHY, HYPERTROPHIC OF REFSUM | Neuropathy, Hereditary Motor and Sensory, Type IV | PHYTANIC ACID OXIDASE DEFICIENCY | PHYTANIC ACID STORAGE DISEASE | Phytanic Acid Oxidase Deficiency | Phytanic Acid Storage Disease | Phytanic acid excess syndrome | Phytanic acid storage disease | Phytanic acid storage disease (disorder) | Polyneuritiformis, Hemeralopia Heredoataxia | Polyneuritiformis, Heredopathia Atactica | REFSUM DISEASE | REFSUM DISEASE, CLASSIC | Refsum | Refsum Disease | Refsum Disease [Disease/Finding] | Refsum Disease, Adult | Refsum Disease, Classic | Refsum Diseases, Adult | Refsum Diseases, Classic | Refsum Syndrome | Refsum Thiebaut Syndrome | Refsum disease | Refsum syndrome | Refsum's Disease | Refsum's Syndrome | Refsum's disease | Refsum's disease (diagnosis) | Refsum-Thiebaut Syndrome | Refsum-Thiebaut Syndromes | Refsum-Thiebaut disease | Refsum-Thi茅baut disease | Refsums Disease | Refsums Syndrome | Syndrome, Refsum | Syndrome, Refsum's | Syndrome, Refsum-Thiebaut | Syndromes, Refsum-Thiebaut | disease refsum | disease refsum's | disease refsums | heredopathia atactica polyneuritiformis | refsum disease | refsum syndrome | refsum's disease | refsum's syndrome | refsums disease CSP2006:autosomal recessive disorder of lipid metabolism in which deficiency of phytanic acid alpha-hydroxylase results in accumulation of phytanic acid; manifested chiefly by chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia and elevation of protein in cerebrospinal fluid. | MSH2017_2016_08_12:An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES. | NCI2016_02D:A rare autosomal recessive disorder characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy. ICD10CM_2017:G60.1|ICD9CM_2014:356.3|MSH2017_2016_08_12:D012035|OMIM2016_04_17:266500|SNOMEDCT_US_2016_09_01:25362006 C1504495 Dysphylaxia Dysphylaxia C0279593 B-cell adult acute lymphoblastic leukemia ALL, adult B cell | ALL, adult B-cell | Adult B Acute Lymphoblastic Leukemia | Adult B Cell ALL | Adult B Cell Acute Lymphoblastic Leukemia | Adult B Cell Acute Lymphocytic Leukemia | Adult B-Cell ALL | Adult B-Cell Acute Lymphoblastic Leukemia | Adult B-Cell Acute Lymphocytic Leukemia | Adult Precursor B-Lymphoblastic Leukemia | B Cell Adult ALL | B Cell Adult Acute Lymphoblastic Leukemia | B Cell Adult Acute Lymphocytic Leukemia | B cell acute lymphocytic leukemia, adult | B cell adult ALL | B cell adult acute lymphocytic leukemia, adult | B cell lymphocytic leukemia, acute adult | B-Cell Adult ALL | B-Cell Adult Acute Lymphoblastic Leukemia | B-Cell Adult Acute Lymphocytic Leukemia | B-cell acute lymphoblastic leukemia, adult | B-cell acute lymphocytic leukemia, adult | B-cell adult ALL | B-cell adult acute lymphoblastic leukemia | B-cell adult acute lymphocytic leukemia | B-cell lymphoblastic leukemia, acute adult | B-cell lymphocytic leukemia, acute adult | acute lymphoblastic leukemia, adult B-cell | acute lymphocytic leukemia, adult B-cell | adult ALL, B cell | adult ALL, B-cell | adult acute lymphoblastic leukemia, B-cell | adult acute lymphocytic leukemia, B-cell | leukemia, adult acute lymphocytic B-cell NCI2016_02D:An acute B-lymphoblastic leukemia occurring in adults. C0151539 Blood urea increased BLOOD UREA INCREASED | BLOOD UREA NITROGEN ELEVATED | BLOOD UREA NITROGEN INCREASED | BUN ELEVATED | BUN INCREASED | BUN concentration increased above normal | BUN increased | Blood Urea Nitrogen Increased | Blood urea increased | Blood urea nitrogen concentration increased above normal | Blood urea nitrogen increased | Elevated Blood Urea Nitrogen | Increased BUN | Increased blood urea nitrogen | Increased blood urea nitrogen (BUN) | Increased blood urea nitrogen level | Increased blood urea nitrogen level (finding) | NITROGEN UREA BLOOD INCREASED | Nitrogen urea blood increased | Raised blood urea | UREA BLOOD ELEVATED | UREA BLOOD LEVEL INCREASED | UREA NITROGEN BLOOD INCREASED | Urea blood elevated | Urea blood level increased | Urea nitrogen blood increased | blood elevated urea | blood urea increased | bun elevated | elevated bun | increased blood urea nitrogen | increased bun HPO2016_07_04:An increased amount of nitrogen in the form of urea in the blood. [HPO:gcarletti] | NCI2016_02D:Laboratory results demonstrating an increase in the concentration of urea nitrogen in a blood sample. | NCI2016_NICHD_1602D:Laboratory results demonstrating an increase in the concentration of urea nitrogen in a blood sample. HPO2016_07_04:HP:0003138|OMIM2016_04_17:MTHU009068|OMIM2016_04_17:MTHU040379 C1836851 Fingerprint profiles' ultrastructurally in cells Fingerprint profiles' ultrastructurally in cells | 'Fingerprint' profiles ultrastructurally | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | Fingerprint profiles ultrastructurally HPO2016_07_04:An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern. [HPO:probinson] HPO2016_07_04:HP:0003208|OMIM2016_04_17:MTHU001345|OMIM2016_04_17:MTHU005809 C1855396 Alpha mannosidosis, type ii alpha-Mannosidosis, Type II MSH2017_2016_08_12:C565418 C0018021 Goiter Enlarged thyroid | Enlarged thyroid gland | Enlarged thyroid gland (finding) | Enlarged;thyroid | Enlargement of thyroid | Enlargement;thyroid | GOITER | GOITRE | Goiter | Goiter (disorder) | Goiter (excluding T85 T86) | Goiter NOS | Goiter NOS (disorder) | Goiter [Disease/Finding] | Goiter, NOS | Goiter, unspecified | Goiters | Goitre | Goitre (disorder) | Goitre NOS | Goitre, NOS | Goitre, unspecified | Struma | Struma - goiter | Struma - goitre | Struma of thyroid | Swelling of thyroid gland | THYROID ENLARGED | THYROID ENLARGEMENT | THYROID GOITER | THYROMEGALY | Thyroid enlarged | Thyroid enlargement | Thyroid gland swelling | Thyroid goiter | Thyroid goitre | Thyromegaly | enlarged thyroid | enlarged thyroid gland | enlargement of thyroid | enlargement under Adam's apple | enlargement under Adam's apple (symptom) | enlargement; thyroid | goiter | goiter thyroid | goiters | goitre | goitres | struma | swelling thyroid gland | thyroid enlargement | thyroid gland swelling | thyroid goiter | thyroid; enlargement | thyromegaly CSP2006:enlargement of the thyroid gland. | HPO2016_07_04:An enlargement of the thyroid gland. [HPO:probinson] | MSH2017_2016_08_12:Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency (HYPOTHYROIDISM), or hormone overproduction (HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic (GOITER, ENDEMIC). | NCI2016_02D:Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing. | NCI2016_NCI-GLOSS_1602D:An enlarged thyroid. It may be caused by too little iodine in the diet or by other conditions. Most goiters are not cancer. HPO2016_07_04:HP:0000853|ICD10CM_2017:E04.9|ICD9CM_2014:240.9|MSH2017_2016_08_12:D006042|OMIM2016_04_17:MTHU001215|OMIM2016_04_17:MTHU041610|OMIM2016_04_17:MTHU053121|SNOMEDCT_US_2016_09_01:190232008|SNOMEDCT_US_2016_09_01:190235005|SNOMEDCT_US_2016_09_01:237568003|SNOMEDCT_US_2016_09_01:267370001|SNOMEDCT_US_2016_09_01:3716002 C0268575 Isovaleryl-coa dehydrogenase deficiency Acidemia, isovaleric | ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY | ISOVALERIC ACIDEMIA | IVA | IVD DEFICIENCY | Isovaleric Acid-CoA Dehydrogenase Deficiency | Isovaleric Acidemia | Isovaleric acid CoA dehydrogenase deficiency | Isovaleric acid-CoA dehydrogenase deficiency | Isovaleric acidaemia | Isovaleric acidemia | Isovalericacidemia | Isovaleryl CoA carboxylase deficiency | Isovaleryl-CoA Dehydrogenase Deficiency | Isovaleryl-CoA dehydrogenase deficiency | Isovaleryl-CoA dehydrogenase deficiency (disorder) | Isovaleryl-coenzyme A dehydrogenase deficiency | Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | acidemia; isovaleric | isovaleric acidemia | isovaleric acidemia (diagnosis) | isovaleric; acidemia | isovaleryl coA dehydrogenase deficiency CSP2006:autosomal recessive aminoacidopathy due to deficiency of isovaleryl-CoA dehydrogenase, with elevated plasma isovaleric acid and urinary isovaleric acid and isovalerylglycine, causing a characteristic odor of sweaty feet; clinical signs include severe acidosis and ketosis, lethargy, convulsions, pernicious vomiting, thrombocytopenia, neutropenia, and pancytopenia. | NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma. ICD10CM_2017:E71.110|MSH2017_2016_08_12:C538167|OMIM2016_04_17:243500|OMIM2016_04_17:607036|OMIM2016_04_17:MTHU012080|SNOMEDCT_US_2016_09_01:87827003 C1275083 Hereditary sclerosing poikiloderma of weary Hereditary sclerosing poikiloderma of Weary | Hereditary sclerosing poikiloderma of Weary (disorder) SNOMEDCT_US_2016_09_01:403774004 C1842466 Uniparental disomy, paternal, chromosome 14 KAGAMI-OGATA SYNDROME | Paternal uniparental disomy 14 | UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 | Uniparental disomy, paternal, chromosome 14 MSH2017_2016_08_12:C536471|OMIM2016_04_17:608149 C0266619 Potter's facies Potter facies | Potter's facies | Potter's facies (disorder) | Potter's facies (finding) | Potter; facies | facies; Potter | potter facies (physical finding) HPO2016_07_04:A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. [HPO:probinson] HPO2016_07_04:HP:0002009|OMIM2016_04_17:MTHU010082|SNOMEDCT_US_2016_09_01:205038003|SNOMEDCT_US_2016_09_01:24814002 C3150127 Bardet biedl syndrome 15 BARDET-BIEDL SYNDROME 15 | BBS15 OMIM2016_04_17:615992 C0342543 Precocious puberty, central Central Precocious Puberty | Central precocious puberty | Central precocious puberty (disorder) | Gonadotropin dependent precocious puberty | Gonadotropin-Dependent Precocious Puberty | Precocious Puberty, Central | central precocious puberty | central precocious puberty (diagnosis) | precocious; puberty, central | puberty; precocious, central NCI2016_02D:Premature onset of sexual development triggered by the premature secretion of gonadotropins.(NICHD) | NCI2016_NICHD_1602D:Premature onset of sexual development triggered by the premature secretion of gonadotropins. ICD10CM_2017:E22.8|MSH2017_2016_08_12:C562787|SNOMEDCT_US_2016_09_01:237816004 C1336339 Stage iva hepatocellular carcinoma Stage IVA Hepatocellular Carcinoma | Stage IVA Hepatocellular Carcinoma AJCC v7 | Stage IVA Liver Cell Carcinoma NCI2016_02D:Stage IVA includes: Any T, N1, M0. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.) C0553755 Motor epilepsy Motor epilepsy | Motor epilepsy (disorder) SNOMEDCT_US_2016_09_01:155041001|SNOMEDCT_US_2016_09_01:193007004|SNOMEDCT_US_2016_09_01:307356008 C3536586 Convulsive status epilepticus, non-refractory Convulsive status epilepticus, non-refractory | Generalized tonic-clonic status epilepticus, non-refractory | Grand mal status epilepticus, non-intractable | Grand mal status epilepticus, non-refractory | Grand mal status epilepticus, non-refractory (disorder) SNOMEDCT_US_2016_09_01:434211000124108 C3492944 Lentiginosis profusa Generalised lentiginosis | Generalized lentiginosis | Generalized lentiginosis (disorder) | LENTIGINOSIS PROFUSA | LENTIGINOSIS, DIFFUSE | LENTIGINOSIS, GENERALIZED | LENTIGINOSIS, INHERITED PATTERNED | Lentiginosis Profusa | Lentiginosis, Diffuse | Lentiginosis, Generalized | Lentiginosis, Inherited Patterned MSH2017_2016_08_12:C573023|OMIM2016_04_17:151001|SNOMEDCT_US_2016_09_01:403537000 C0342784 Pearson's marrow-pancreas syndrome PEARSON MARROW-PANCREAS SYNDROME | Pearson Marrow-Pancreas Syndrome | Pearson marrow-pancreas syndrome | Pearson syndrome | Pearson syndrome (diagnosis) | Pearson's marrow-pancreas syndrome | Pearson's syndrome | Pearson's syndrome (disorder) NCI2016_02D:A rare syndrome with poor prognosis caused by single, large deletions of mitochondrial DNA. It usually presents in infancy with bone marrow failure, anemia, neutropenia, thrombocytopenia, vacuolation of the hematopoietic precursor cells, lactic acidosis, and fibrosis and acinar atrophy of the pancreas that results in malabsorption and chronic diarrhea. Approximately half of the patients die in infancy or early childhood. OMIM2016_04_17:557000|SNOMEDCT_US_2016_09_01:237985009 C4025569 Eunuchoid habitus Eunuchoid habitus HPO2016_07_04:A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more). [HPO:probinson] HPO2016_07_04:HP:0003782 C1442839 Hypervitaminosis d D-hypervitaminosis | D; hypervitaminosis | HYPERVITAMINOSIS D | Hypervitaminosis D | Hypervitaminosis D (disorder) | hyperalimentation; vitamin D | hypervitaminosis D | hypervitaminosis D (diagnosis) | hypervitaminosis; D | vitamin D; hyperalimentation ICD10CM_2017:E67.3|ICD9CM_2014:278.4|SNOMEDCT_US_2016_09_01:190969000|SNOMEDCT_US_2016_09_01:27712000 C3888310 Deafness, autosomal recessive 83 DEAFNESS, AUTOSOMAL RECESSIVE 83 | DFNB83 OMIM2016_04_17:613685 C1519859 Endometrial mucinous adenocarcinoma Endometrial Mucinous Adenocarcinoma | Uterine Corpus Mucinous Adenocarcinoma NCI2016_02D:A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin. C4280503 Premature hardening of arteries Premature hardening of arteries HPO2016_07_04:HP:0005177 C0020683 Hypovolemic shock HYPOVOLEMIC SHOCK | Hematogenic Shock | Hypovolaemic shock | Hypovolemic Shock | Hypovolemic shock | Hypovolemic shock (disorder) | Low volume shock | Oligemic Shock | Shock, Hypovolemic | Shock, hypovolemic | [D]Hypovolaemic shock | [D]Hypovolaemic shock (situation) | [D]Hypovolemic shock | [D]Hypovolemic shock (context-dependent category) | [D]Hypovolemic shock (situation) | hypovolaemic shock | hypovolemic shock | hypovolemic shock (diagnosis) | hypovolemic; shock | shock hypovolemic | shock; hypovolemic NCI2016_02D:Shock resulting from insufficient blood volume for the maintenance of adequate cardiac output, blood pressure and tissue perfusion. | NCI2016_FDA_1602D:Shock resulting from insufficient blood volume for the maintenance of adequate cardiac output, blood pressure and tissue perfusion. ICD10CM_2017:R57.1|MSH2017_2016_08_12:D012769|SNOMEDCT_US_2016_09_01:158358001|SNOMEDCT_US_2016_09_01:207030009|SNOMEDCT_US_2016_09_01:39419009 C2750450 Corneal dystrophy, fuchs endothelial, 4 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET | Corneal Dystrophy, Fuchs Endothelial, 4 | FECD4 MSH2017_2016_08_12:C567677|OMIM2016_04_17:610206|OMIM2016_04_17:613268 C0426816 Absence of rib Absence of rib | Absence of rib (finding) | Absent ribs | Decreased rib number | Missing rib | Missing ribs | absence; rib | missing rib | missing ribs | rib; absent HPO2016_07_04:A developmental anomaly with absence of one or more ribs. [HPO:probinson] HPO2016_07_04:HP:0000921|OMIM2016_04_17:MTHU007916|OMIM2016_04_17:MTHU017665|SNOMEDCT_US_2016_09_01:249695006 C0036654 Senility, no psychosis Senility without mention of psychosis | Senility, no psychosis | Senility, without mention of psychosis | [D]Senility, no psychosis | [D]Senility, without mention of psychosis | [D]Senility, without mention of psychosis (context-dependent category) | [D]Senility, without mention of psychosis (situation) ICD9CM_2014:797|SNOMEDCT_US_2016_09_01:158710008|SNOMEDCT_US_2016_09_01:207526004|SNOMEDCT_US_2016_09_01:268888002 C2675179 Arginine:glycine amidinotransferase deficiency AGAT DEFICIENCY | AGAT Deficiency | ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY | Arginine:Glycine Amidinotransferase Deficiency | Arginine:glycine amidinotransferase deficiency | CCDS3 | CEREBRAL CREATINE DEFICIENCY SYNDROME 3 | CREATINE DEFICIENCY SYNDROME DUE TO AGAT DEFICIENCY | Cerebral creatine deficiency syndrome 3 | Cerebral creatine deficiency syndrome 3 (disorder) | Creatine Deficiency Syndrome due to AGAT Deficiency | Creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency | GATM DEFICIENCY | L-Arginine:Glycine Aminidotransferase Deficiency | L-arginine:glycine amidinotransferase deficiency MSH2017_2016_08_12:C567192|OMIM2016_04_17:602360|OMIM2016_04_17:612718|SNOMEDCT_US_2016_09_01:702440000 C1112776 Thyroid hyperplasia Large thyroid | Thyroid hyperplasia | hyperplasia thyroid | hyperplasia; thyroid | thyroid hyperplasia | thyroid; hyperplasia HPO2016_07_04:Hyperplasia of the thyroid gland. [HPO:probinson] HPO2016_07_04:HP:0008249|OMIM2016_04_17:MTHU001216 C4025682 Recurrent serratia marcescens infections Recurrent Serratia marcescens infections HPO2016_07_04:Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection. [HPO:probinson] HPO2016_07_04:HP:0002741 C1335942 Selective immunoglobulin isotype deficiency Selective Immunoglobulin Isotype Deficiency NCI2016_02D:A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. C1855781 Lack of delayed skin hypersensitivity reaction ANERGY CUTANEOUS | Absence of delayed hypersensitivity skin test | Cutaneous anergy | Lack of delayed skin hypersensitivity reaction HPO2016_07_04:Inability to react to a delayed hypersensitivity skin test. [HPO:probinson] HPO2016_07_04:HP:0002965|OMIM2016_04_17:MTHU012150|OMIM2016_04_17:MTHU014260 C4024916 Decreased number of small peripheral myelinated nerve fibers Decreased number of small peripheral myelinated nerve fibers HPO2016_07_04:HP:0007249 C3279575 Reticulate skin pigmentation Reticulate skin pigmentation | Reticulated skin pigmentation HPO2016_07_04:HP:0007427|OMIM2016_04_17:MTHU034856 C0339136 Cyst; lacrimal apparatus Cyst of lacrimal passages | Cyst of lacrimal passages (disorder) | cyst; lacrimal apparatus | lacrimal apparatus; cyst | lacrimal passages; cyst SNOMEDCT_US_2016_09_01:231846009 C0020241 Hydroa vacciniforme Bazin's hydroa vacciniforme | HYDROA VACCINIFORME | Hydroa Vacciniforme | Hydroa Vacciniforme [Disease/Finding] | Hydroa vacciniforme | Hydroa vacciniforme (disorder) | hydroa vacciniforme MSH2017_2016_08_12:A vesicular and bullous eruption having a tendency to recur in summer during childhood and commonly appearing on sun-exposed skin. The lesions are surrounded by an erythematous zone and resemble a vaccination. (From Dorland, 27th ed) | NCI2016_02D:A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas. MSH2017_2016_08_12:D006837|SNOMEDCT_US_2016_09_01:200837006|SNOMEDCT_US_2016_09_01:27687007 C0151532 Disorder brain stem BRAIN STEM DISORDER | Brain stem disorder | Brain stem disorder NOS | Brain stem disorder, NOS | DISORDER BRAIN STEM | Disease of brain stem | Disease of brain stem (disorder) | Disease of brain stem, NOS | Disorder brain stem | Disorder of brain stem | Disorder of brain stem (disorder) | brain diseases stem | brain disorders stem | brain stem disease | disease of brain stem | of brain stem disease SNOMEDCT_US_2016_09_01:95640005 C0268381 Primary amyloidosis AL | AL AMYLOIDOSIS | AL amyloidosis | AL amyloidosis (disorder) | AMYLOIDOSIS, IDIOPATHIC | AMYLOIDOSIS, PRIMARY | AMYLOIDOSIS, SYSTEMIC | Amyloid - primary | Amyloidosis, Primary | Amyloidosis, primary | Idiopathic amyloidosis | Primary Amyloidosis | Primary amyloidosis | Primary amyloidosis (disorder) | Primary amyloidosis [Ambiguous] | al amyloidosis | amyloidosis primary | idiopathic amyloidosis | primary amyloidosis | primary amyloidosis (diagnosis) NCI2016_02D:A plasma cell neoplasm that secretes an abnormal immunoglobulin, which deposits in tissues and forms a beta-pleated sheet structure that binds Congo red dye with characteristic birefringence. (WHO, 2001) MSH2017_2016_08_12:C531616|OMIM2016_04_17:254500|SNOMEDCT_US_2016_09_01:23132008|SNOMEDCT_US_2016_09_01:237864008|SNOMEDCT_US_2016_09_01:302871005 C0264600 Neurologic voice disorders NEUROLOGIC VOICE DISORDERS | Neurologic Voice Disorder | Neurologic Voice Disorders | Neurologic dysphonia | Neurologic dysphonia, NOS | Neurologic voice disorder | Neurologic voice disorder (disorder) | Neurologic voice disorder, NOS | Voice Disorder, Neurologic | Voice Disorders, Neurologic MSH2017_2016_08_12:D014832|SNOMEDCT_US_2016_09_01:71941009 C3537048 Trisomy 18 Trisomy 18 | Trisomy 18 (chromosomal abnormality) NCI2016_02D:A chromosomal abnormality consisting of the presence of a third copy of chromosome 18 in somatic cells. C1833487 Varicella, severe recurrent Severe recurrent varicella | VARICELLA, SEVERE RECURRENT | Varicella, Severe Recurrent HPO2016_07_04:HP:0005428|MSH2017_2016_08_12:C563458|OMIM2016_04_17:600670 C1956257 Pulmonary stenosis Narrowing of pulmonic valve | PULMONIC STENOSIS | Pulmonary Stenose | Pulmonary Stenoses | Pulmonary Stenosis | Pulmonary stenosis | Pulmonary stenosis NOS | Pulmonary stenosis, cause unspecified | Pulmonary stenosis, cause unspecified (disorder) | Pulmonary stenosis-cause unsp | Pulmonary valve stenosis | Pulmonic Stenoses | Pulmonic Stenosis | Pulmonic Valve Stenosis | Pulmonic stenosis | Pulmonic stenosis NOS | Pulmonic valve stenosis | Stenose, Pulmonary | Stenoses, Pulmonary | Stenoses, Pulmonic | Stenosis, Pulmonary | Stenosis, Pulmonic | pulmonary; stenosis | pulmonic stenosis HPO2016_07_04:A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis). [HPO:probinson] | NCI2016_02D:Narrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets. | NCI2016_FDA_1602D:Narrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets. HPO2016_07_04:HP:0001642|MSH2017_2016_08_12:D011666|OMIM2016_04_17:265500|OMIM2016_04_17:MTHU001440|OMIM2016_04_17:MTHU004506|SNOMEDCT_US_2016_09_01:194999004|SNOMEDCT_US_2016_09_01:266300007|SNOMEDCT_US_2016_09_01:56786000 C1849307 Increased density of long bones Increased density of long bones HPO2016_07_04:An abnormal increase in the bone density of the long bones. [HPO:curators] HPO2016_07_04:HP:0006392|OMIM2016_04_17:MTHU009563 C1441613 Immune diffusion ID | Immune diffusion C0852077 Blood coagulation disorders, inherited Blood Coagulation Disorders, Inherited | Blood Coagulation Disorders, Inherited [Disease/Finding] | Coagulation Disorder, Hereditary | Coagulation Disorder, Inherited | Coagulation Disorders, Hereditary | Coagulation Disorders, Inherited | Coagulation disorders congenital | Hereditary Blood Coagulation Disorders | Hereditary Coagulation Disorder | Hereditary Coagulation Disorders | Inherited Blood Coagulation Disorders | Inherited Coagulation Disorder | Inherited Coagulation Disorders MSH2017_2016_08_12:Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. MSH2017_2016_08_12:D025861 C1846046 Spastic paraplegia 16, x-linked (disorder) SPASTIC PARAPLEGIA 16, X-LINKED | SPASTIC PARAPLEGIA 16, X-LINKED (disorder) | SPG16 | Spastic paraplegia 16, X-linked MSH2017_2016_08_12:C536643|OMIM2016_04_17:300266 C0745283 Infectious process INFECTIOUS PROCESS | Infectious process | Infectious process (qualifier value) | infectious process SNOMEDCT_US_2016_09_01:441862004 C0268123 Muscle amp deaminase deficiency Muscle AMP deaminase deficiency | Muscle AMP deaminase deficiency (disorder) | Muscle adenosine monophosphate deaminase deficiency | Muscle adenosine monophosphate deaminase deficiency (disorder) | Muscle adenylate deaminase deficiency | Myoadenylate deaminase deficiency | Myoadenylate deaminase deficiency myopathy | myoadenylate deaminase deficiency (diagnosis) ICD10CM_2017:E79.2|SNOMEDCT_US_2016_09_01:9105005 C0746834 Nephritis lupus type iv NEPHRITIS LUPUS TYPE IV C1861305 Tarsal-carpal coalition syndrome NOG gene-related symphalangism spectrum disorder | NOG-Related-Symphalangism Spectrum Disorder | TARSAL-CARPAL COALITION SYNDROME | TCC | Tarsal carpal coalition syndrome | Tarsal-Carpal Coalition Syndrome | Tarsal-carpal coalition syndrome | Tarsal-carpal coalition syndrome (disorder) MSH2017_2016_08_12:C536943|OMIM2016_04_17:186570|OMIM2016_04_17:602991|SNOMEDCT_US_2016_09_01:702312009 C0011560 Amyloid deposition Amyloid | Amyloid Depositions | Amyloid degeneration | Amyloid deposition | Amyloid deposition (morphologic abnormality) | Amyloid deposition, NOS | Amyloid, NOS | Deposition, amyloid | Deposition, waxy | Hyaloid degeneration | Hyaloid degeneration (morphologic abnormality) | Hyaloid degenration | Hyaloid degenration (morphologic abnormality) | Lardaceous degeneration | Waxy deposition | amyloid degeneration | amyloid deposition | amyloid; degeneration | amyloid; infiltrate | degeneration; amyloid | infiltrate; amyloid SNOMEDCT_US_2016_09_01:184196007|SNOMEDCT_US_2016_09_01:68790008 C1839410 Radial aplasia and anogenital anomalies RADIAL APLASIA AND ANOGENITAL ANOMALIES | RADIAL APLASIA, X-LINKED | Radial Aplasia And Anogenital Anomalies | Radial aplasia, X-linked | Radius absent anogenital anomalies MSH2017_2016_08_12:C535281|OMIM2016_04_17:312190 C1833236 Cardiomyopathy, familial hypertrophic, 6 (disorder) CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) | CMH6 | Cardiomyopathy, Familial Hypertrophic, 6 MSH2017_2016_08_12:C563436|OMIM2016_04_17:600858|OMIM2016_04_17:602743 C0343200 Arteritis; giant cell, with polymyalgia rheumatica Giant cell arteritis with polymyalgia rheumatica | Giant cell arteritis with polymyalgia rheumatica (disorder) | arteritis; giant cell, with polymyalgia rheumatica | giant cell arteritis with polymyalgia rheumatica (diagnosis) | giant cell; arteritis, with polymyalgia rheumatica | polymyalgia; rheumatica, with giant cell arteritis | rheumatica; polymyalgia, with giant cell arteritis ICD10CM_2017:M31.5|SNOMEDCT_US_2016_09_01:202835005|SNOMEDCT_US_2016_09_01:239938009 C0241355 Small testicle Decreased testicular size | HYPOPLASTIC TESTES | Hypoplastic testes | SMALL TESTES | Small testes | Small testicle | Small testicle (finding) | Small testicles | Small testis | TESTICULAR UNDERDEVELOPMENT | Testicular hypoplasia | small testes | small testicle | small testicles HPO2016_07_04:Reduced volume of the testicle (the male gonad). [HPO:probinson] HPO2016_07_04:HP:0008734|OMIM2016_04_17:MTHU007248|OMIM2016_04_17:MTHU014772|OMIM2016_04_17:MTHU017097|OMIM2016_04_17:MTHU047121|SNOMEDCT_US_2016_09_01:276411001 C0393571 Multiple system atrophy Atrophies, Multisystem | Atrophies, Multisystemic | Atrophy, Multiple System | Atrophy, Multisystem | Atrophy, Multisystemic | MSA - Multiple system atrophy | Multiple System Atrophies | Multiple System Atrophy | Multiple System Atrophy Syndrome | Multiple System Atrophy [Disease/Finding] | Multiple system atrophy | Multiple system atrophy (disorder) | Multisystem Atrophies | Multisystem Atrophy | Multisystemic Atrophies | Multisystemic Atrophy | atrophy multiple system | atrophy multiple systems | multiple system atrophy | multisystem atrophy | multisystem atrophy (diagnosis) MSH2017_2016_08_12:A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92) | NCI2016_02D:A rare neurodegenerative disorder characterized by loss of autonomic nervous system functions and disturbances of motor, balance and muscle coordination. MSH2017_2016_08_12:D019578|SNOMEDCT_US_2016_09_01:230297002 C0205647 Follicular adenoma ADENOMA FOLLICULAR | Adenoma, Follicular | Adenomas, Follicular | Follicular Adenoma | Follicular Adenomas | Follicular adenoma | Follicular adenoma (morphologic abnormality) | adenoma follicular | follicular adenoma MSH2017_2016_08_12:D000236|SNOMEDCT_US_2016_09_01:55021007 C1299247 Primary malignant neoplasm of ovary and other uterine adnexa Primary malignant neoplasm of ovary and other uterine adnexa | Primary malignant neoplasm of ovary and other uterine adnexa (disorder) SNOMEDCT_US_2016_09_01:372117006 C1854594 Deafness, autosomal dominant 23 DEAFNESS, AUTOSOMAL DOMINANT 23 | DFNA23 | Deafness, Autosomal Dominant 23 MSH2017_2016_08_12:C565357|OMIM2016_04_17:601205|OMIM2016_04_17:605192 C4025127 Joint swelling onset late infancy Joint swelling onset late infancy HPO2016_07_04:HP:0005833 C0037188 Sinoatrial block Block, Sinoatrial | Block, Sinoatrial Exit | Blocks, Sinoatrial | Blocks, Sinoatrial Exit | Exit Block, Sinoatrial | Exit Blocks, Sinoatrial | Exit block | HEART BLOCK SINOAURICULAR | Heart block sinoatrial | Heart block sinoauricular | SA BLOCK | SA block | SINOATRIAL BLOCK | Sinoatrial Block | Sinoatrial Block [Disease/Finding] | Sinoatrial Blocks | Sinoatrial Exit Block | Sinoatrial Exit Blocks | Sinoatrial block | Sinoatrial block (disorder) | Sinoatrial block, NOS | Sinoatrial exit block | Sinoauricular block | Sinoauricular block, NOS | block; sinoatrial | block; sinoauricular | sa block | sinoatrial block | sinoatrial block (diagnosis) | sinoatrial heart block | sinoatrial; block | sinoauricular; block HPO2016_07_04:Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria. [HPO:probinson] | MSH2017_2016_08_12:Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the SINOATRIAL NODE to the HEART ATRIA. It is characterized by a delayed in heartbeat and pauses between P waves in an ELECTROCARDIOGRAM. HPO2016_07_04:HP:0012723|ICD10CM_2017:I45.5|MSH2017_2016_08_12:D012848|OMIM2016_04_17:MTHU038971|SNOMEDCT_US_2016_09_01:65778007 C3280062 Leber congenital amaurosis 16 LCA16 | LEBER CONGENITAL AMAUROSIS 16 OMIM2016_04_17:603208|OMIM2016_04_17:614186 C4280591 Hypertrophy of tooth Hypertrophy of tooth HPO2016_07_04:HP:0001572 C0346076 Hobnail hemangioma Hobnail Hemangioma | Targetoid Hemosiderotic Hemangioma | Targetoid haemosiderotic haemangioma | Targetoid haemosiderotic hemangioma | Targetoid hemosiderotic hemangioma | Targetoid hemosiderotic hemangioma (disorder) NCI2016_02D:A hemangioma characterized by the presence of hobnail endothelial cells. SNOMEDCT_US_2016_09_01:254790003 C1304115 Allergic contact urticaria Allergic contact urticaria | Allergic contact urticaria (disorder) SNOMEDCT_US_2016_09_01:402304007 C2673193 Brugada syndrome 2 BRGDA2 | BRUGADA SYNDROME 2 | Brugada Syndrome 2 | brugada syndrome-2 | brugada syndrome-2 (diagnosis) MSH2017_2016_08_12:C567087|OMIM2016_04_17:611777|OMIM2016_04_17:611778 C0750952 Biliary tract cancer Biliary Tract Cancer | Biliary Tract Cancers | Biliary tract--Cancer | Cancer of Biliary Tract | Cancer of the Biliary Tract | Cancer, Biliary Tract | Cancers, Biliary Tract | Malignant neoplasm of biliary tract | Malignant neoplasm of biliary tract, NOS | Malignant neoplasm of biliary tract, part unspecified | Malignant neoplasm of biliary tract, part unspecified site | Malignant neoplasm of biliary tract, unspecified | Malignant tumor of biliary tract | Malignant tumor of biliary tract (disorder) | Malignant tumour of biliary tract | biliary cancer | biliary cancers | biliary cancers tract | biliary tract cancer | cancer of biliary tract | malignant neoplasm of biliary tract | malignant neoplasm of biliary tract (diagnosis) | malignant tumor of biliary tract ICD10CM_2017:C24.9|ICD9CM_2014:156.9|MSH2017_2016_08_12:D001661|SNOMEDCT_US_2016_09_01:363415003|SNOMEDCT_US_2016_09_01:93688006 C1857777 Arrhythmogenic right ventricular dysplasia, familial, 10 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 10 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 | ARVC10 | ARVD10 | Arrhythmogenic Right Ventricular Cardiomyopathy 10 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 MSH2017_2016_08_12:C565707|OMIM2016_04_17:125671|OMIM2016_04_17:610193 C1384583 Congenital absence of germinal epithelium of testes AZF - Azoospermia factor | Azoospermia factor | Congenital absence of germinal epithelium of testes | Congenital absence of germinal epithelium of testes (disorder) | DEL CASTILLO SYNDROME | Del Castillo Syndrome | Del Castillo syndrome | Del Castillo's syndrome | GERMINAL CELL APLASIA | Gene deletion in AZF region of Y chromosome | Germinal Cell Aplasia | Germinal aplasia | Germinal aplasia syndrome | Germinal cell absence | Germinal cell aplasia | SERTOLI CELL-ONLY SYNDROME | SPERMATOGENIC FAILURE, X-LINKED, 1 | SPGFX1 | Sertoli Cell Only Syndrome | Sertoli Cell-Only Syndrome | Sertoli Cell-Only Syndrome [Disease/Finding] | Sertoli-cell-only syndrome | Sertoli-only-syndrome MSH2017_2016_08_12:A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement. MSH2017_2016_08_12:D054331|OMIM2016_04_17:305700|OMIM2016_04_17:MTHU048909|SNOMEDCT_US_2016_09_01:73465006 C0018994 Hemobilia Biliary Tract Hemorrhage | Biliary Tract Hemorrhages | HEMOBILIA | Haematobilia | Haemobilia | Haemorrhage in bile | Hematobilia | Hemobilia | Hemobilia (disorder) | Hemobilia [Disease/Finding] | Hemobilias | Hemorrhage in bile | Hemorrhage, Biliary Tract | haematobilia | haemobilia | hematobilia | hemobilia HPO2016_07_04:Bleeding into the biliary tree. [HPO:sdoelken] | MSH2017_2016_08_12:Hemorrhage in or through the BILIARY TRACT due to trauma, inflammation, CHOLELITHIASIS, vascular disease, or neoplasms. HPO2016_07_04:HP:0100762|MSH2017_2016_08_12:D006431|SNOMEDCT_US_2016_09_01:66556007 C0810277 Other heart valve disorders Other heart valve disorders C2931142 Dysharmonic skeletal maturation muscular fibre disproportion Dysharmonic skeletal maturation muscular fibre disproportion | PUERTO RICAN INFANT HYPOTONIA SYNDROME | Puerto Rican Infant Hypotonia Syndrome | Puertorican infant hypotonia syndrome | Qazi Markouizos syndrome MSH2017_2016_08_12:C536259|OMIM2016_04_17:600096 C2713583 Congenital tracheobronchomegaly Congenital Tracheobronchomegalies | Congenital Tracheobronchomegaly | Congenital tracheobronchiomegaly | Congenital tracheobronchomegaly | Congenital tracheobronchomegaly (disorder) | Tracheobronchomegalies, Congenital | Tracheobronchomegaly, Congenital | congenital tracheobronchomegaly | congenital tracheobronchomegaly (diagnosis) MSH2017_2016_08_12:D014137|SNOMEDCT_US_2016_09_01:57451009 C0032788 Postoperative hemorrhage Bleeding postoperative | Blood Loss, Postoperative | Haemorrhage - postoperative | Haemorrhage postprocedure | Haemorrhage;post-op | Hemorrhage - postoperative | Hemorrhage postprocedure | Hemorrhage, Postoperative | Hemorrhages, Postoperative | Loss, Postoperative Blood | POST-OPERATIVE HAEMORRHAGE | POST-OPERATIVE HEMORRHAGE | Post-operative haemorrhage | Post-operative hemorrhage | Postoperative Bleeding | Postoperative Blood Loss | Postoperative Hemorrhage | Postoperative Hemorrhage [Disease/Finding] | Postoperative Hemorrhages | Postoperative bleeding | Postoperative haemorrhage | Postoperative haemorrhage (disorder) | Postoperative hemorrhage | Postoperative hemorrhage (disorder) | hemorrhage post operative | hemorrhage postoperative | hemorrhage; postoperative | post-op haemorrhage | post-op hemorrhage | postoperative bleeding | postoperative haemorrhage | postoperative hemorrhage | postoperative hemorrhage (diagnosis) | postoperative; hemorrhage MSH2017_2016_08_12:Hemorrhage following any surgical procedure. It may be immediate or delayed and is not restricted to the surgical wound. | NCI2016_02D:Bleeding occurring after completion of a surgical procedure, which may occur immediately or may be delayed, and which may or may not be wound related. | NCI2016_CTCAE_1602D:A finding of bleeding occurring after a surgical procedure. | NCI2016_NICHD_1602D:Bleeding occurring after completion of a surgical procedure, which may occur immediately or may be delayed, and which may or may not be wound related. MSH2017_2016_08_12:D019106|OMIM2016_04_17:MTHU024462|SNOMEDCT_US_2016_09_01:110265006|SNOMEDCT_US_2016_09_01:157787000|SNOMEDCT_US_2016_09_01:213260004 C2987483 Stage 0 vulvar cancer Stage 0 Vulvar Cancer | Stage 0 Vulvar Cancer AJCC v7 | Stage 0 Vulvar Carcinoma | Stage 0 Vulvar Carcinoma AJCC v7 | stage 0 vulvar carcinoma in situ NCI2016_02D:Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ (preinvasive carcinoma). N0: No regional lymph node metastasis. M0: No distant metastasis. FIGO no longer includes stage 0. (AJCC 7th ed.) | NCI2016_NCI-GLOSS_1602D:Abnormal cells are found on the surface of the vulvar skin. These abnormal cells may become cancer and spread into nearby normal tissue. C3151065 Cataract, posterior polar, 2 CATARACT, POSTERIOR POLAR, 2 | CTPP2 | Cataract, Posterior Polar, 2 MSH2017_2016_08_12:C565134|OMIM2016_04_17:613763 C0021313 Infection of kidney Infection - kidney | Infection of kidney | Infection of kidney NOS | Infection of kidney NOS (disorder) | Infection of kidney, unspecified | Infection;kidney | Infections of kidney | Infectious disorder of kidney | Infectious disorder of kidney (disorder) | KIDNEY INFECTION | Kidney Infections | Kidney infection | Kidney infection NOS | Renal infection | infection kidney | infection kidneys | infection of kidney | infection of kidney (diagnosis) | infection renal | infection; kidney | infections kidney | infections kidneys | kidney infection | kidney infections | kidney; infection | of kidney infection | of kidney infections | renal infection CSP2006:invasion and growth of microorganisms in the kidney; may be clinically inapparent or result in local cellular injury. ICD10CM_2017:N15.9|ICD9CM_2014:590|ICD9CM_2014:590.9|SNOMEDCT_US_2016_09_01:129128006|SNOMEDCT_US_2016_09_01:155865002|SNOMEDCT_US_2016_09_01:197785002|SNOMEDCT_US_2016_09_01:266618004 C0342953 Organ dysfunction syndrome Organ dysfunction syndrome | Organ dysfunction syndrome (disorder) | organ dysfunction syndrome | organ dysfunction syndrome (diagnosis) SNOMEDCT_US_2016_09_01:238147009 C1832475 Deafness, autosomal dominant 11 DEAFNESS, AUTOSOMAL DOMINANT 11 | DFNA11 | Deafness, Autosomal Dominant 11 MSH2017_2016_08_12:C563353|OMIM2016_04_17:276903|OMIM2016_04_17:601317 C1257809 Steroid metabolism, inborn errors Congenital Errors of Steroid Metabolism | Inborn Errors of Steroid Metabolism | Steroid Metabolic Diseases, Inborn | Steroid Metabolism, Inborn Errors | Steroid Metabolism, Inborn Errors [Disease/Finding] MSH2017_2016_08_12:Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero. MSH2017_2016_08_12:D043202 C0221011 Malignant atrophic papulosis Atrophic Papuloses, Malignant | Atrophic Papulosis, Malignant | CUTANEOINTESTINAL SYNDROME | DEGOS DISEASE | Degos | Degos Disease | Degos Syndrome | Degos disease | Degos' disease | Degos's Malignant Atrophic Papulosis | Disease, Degos | Disease, Kohlmeier-Degos | Erythrokeratoderma en cocarde (Degos) | Erythrokeratoderma en cocardes | Erythrokeratoderma en cocardes (Degos syndrome) | Erythrokeratoderma en cocardes (disorder) | KOEHLMEIER-DEGOS SYNDROME | Kohlmeier-Degos Disease | Kohlmeier-Degos disease | Kohlmeier-Degos syndrome | Lethal cutaneous and gastrointestinal arteriolar thrombosis | MALIGNANT ATROPHIC PAPULOSIS | MAP - malignant atrophic papulosis | Maladie de Degos | Malignant Atrophic Papuloses | Malignant Atrophic Papulosis | Malignant Atrophic Papulosis [Disease/Finding] | Malignant atrophic papulosis | Malignant atrophic papulosis (disorder) | Malignant atrophic papulosis of Degos | PAPULOSIS, MALIGNANT ATROPHIC | PAPULOSIS, MALIGNANT, ATROPHIC | Papuloses, Malignant Atrophic | Papulosis, Malignant Atrophic | Syndrome, Degos | degos disease | degos' disease | kohlmeier-degos disease | malignant atrophic papulosis | malignant atrophic papulosis (Degos disease) | malignant atrophic papulosis (diagnosis) MSH2017_2016_08_12:Variously described as a vasculopathy, endovasculitis, or occlusive arteriopathy, this condition occurs in a benign cutaneous form and a lethal multiorgan systemic variant. It is characterized by a narrowing and occlusion of the lumen of small to medium-sized blood vessels, leading to ischemia and infarction in the involved organ systems. The etiology and pathophysiology are unknown. | NCI2016_02D:A rare disorder of unknown etiology. It may present as a cutaneous disorder with a benign clinical course or a systemic disorder with a grim prognosis. Both the cutaneous and systemic variants are characterized by the presence of papular skin lesions. The systemic variant, in addition to the skin papules, is characterized by gastrointestinal manifestations including abdominal pain and distention, nausea, vomiting, diarrhea, intestinal infarction, and intestinal perforation. The central and peripheral nervous systems may also be involved in the systemic variant. MSH2017_2016_08_12:D054853|OMIM2016_04_17:602248|SNOMEDCT_US_2016_09_01:11131009|SNOMEDCT_US_2016_09_01:239062001|SNOMEDCT_US_2016_09_01:400171002 C1851059 Wide columella Broad columella | Columella, broad | Columella, wide | Fullness of columella | Increased width of columella | Wide columella HPO2016_07_04:Increased width of the columella. [pmid:19152422] HPO2016_07_04:HP:0010761|OMIM2016_04_17:MTHU018115 C1859406 Borrone di rocco crovato syndrome BORRONE DERMATOCARDIOSKELETAL SYNDROME | Borrone Di Rocco Crovato syndrome | Borrone dermatocardioskeletal syndrome MSH2017_2016_08_12:C536577|OMIM2016_04_17:249420 C4082144 Metatarsal valgus METATARSUS VALGUS | Metatarsal Valgus | Metatarsus Valgus | Metatarsus valgus | Out Toeing | Out-Toeing | Out-Toeings | Toeing Out | Toeing Outs | metatarsus; valgus | valgus; metatarsus HPO2016_07_04:A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight. [HPO:curators] | MSH2017_2016_08_12:A foot anomaly in which the forefoot is angled outward relative to the hindfoot. HPO2016_07_04:HP:0010508|MSH2017_2016_08_12:D000070591 C1848296 Dosage-sensitive sex reversal 46,XY SEX REVERSAL 2 | 46,XY SEX REVERSAL, DAX1-RELATED | DOSAGE-SENSITIVE SEX REVERSAL | DSS | Dosage-sensitive sex reversal | SRXY2 MSH2017_2016_08_12:C535601|OMIM2016_04_17:300018|OMIM2016_04_17:300473 C1710096 Sinonasal undifferentiated carcinoma SNUC - sinonasal undifferentiated carcinoma | Sinonasal Anaplastic Carcinoma | Sinonasal Undifferentiated Carcinoma | Sinonasal undifferentiated carcinoma | Undifferentiated carcinoma of nasal sinus | Undifferentiated carcinoma of nasal sinus (disorder) NCI2016_02D:A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor. MSH2017_2016_08_12:C537344|SNOMEDCT_US_2016_09_01:697993003 C1334069 Hyperimmunoglobulin syndrome Hyperimmunoglobulin Syndrome C1836704 Arrhythmogenic right ventricular dysplasia, familial, 7 Arrhythmogenic Right Ventricular Cardiomyopathy 7 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 | Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy | Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy | Myopathy, Desmin-Related, with Arrhythmogenic Right Ventricular Cardiomyopathy MSH2017_2016_08_12:C563784 C0796274 Brown-vialetto-van laere syndrome BROWN-VIALETTO-VAN LAERE SYNDROME 1 | BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS | BVVLS1 | Brown-Vialetto-Van Laere syndrome | Bulbar Palsy, Progressive, With Sensorineural Deafness | PONTOBULBAR PALSY WITH DEAFNESS | Pontobulbar Palsy With Deafness | Pontobulbar palsy and neurosensory deafness | Pontobulbar palsy with deafness | Progressive Bulbar Palsy with Sensorineural Deafness | Progressive bulbar palsy with sensorineural deafness | Progressive bulbar palsy with sensorineural deafness (disorder) | hereditary progressive bulbar paralysis with deafness | pontobulbar palsy with deafness | pontobulbar palsy with neurosensory deafness | progressive bulbar palsy with perceptive deafness JABL99:A progressive condition marked by bilateral nerve deafness and neurological disorders involving several cranial and, less commonly, spinal nerves. MSH2017_2016_08_12:C537111|OMIM2016_04_17:211530|OMIM2016_04_17:613350|SNOMEDCT_US_2016_09_01:699866005 C1333788 Gastric small cell carcinoma Gastric Oat Cell Carcinoma | Gastric Small Cell Carcinoma | Gastric Small Cell Neuroendocrine Carcinoma | Oat Cell Carcinoma of Stomach | Oat Cell Carcinoma of the Stomach | Small Cell Carcinoma of Stomach | Small Cell Carcinoma of the Stomach | gastric small cell carcinoma | small cell carcinoma of stomach | small cell carcinoma of stomach (diagnosis) NCI2016_02D:An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells. C0343073 Wooly hair Wooley hair | Woolly hair | Wooly hair | Wooly hair (disorder) | woolly hair | wooly hair HPO2016_07_04:HP:0002224|OMIM2016_04_17:MTHU002943|SNOMEDCT_US_2016_09_01:52564001 C1721006 Keratoderma, palmoplantar, epidermolytic EPPK | EPPK (Epidermolytic Palmoplantar Keratoderma) | EPPKs (Epidermolytic Palmoplantar Keratoderma) | Epidermolytic Hyperkeratoses, Localized | Epidermolytic Hyperkeratosis, Localized | Epidermolytic Palmoplantar Keratoderma | Epidermolytic Palmoplantar Keratodermas | Epidermolytic Thost-Unna Disease | Epidermolytic Unna-Thost Disease | HYPERKERATOSIS, LOCALIZED EPIDERMOLYTIC | Hyperkeratoses, Localized Epidermolytic | Hyperkeratosis, Localized Epidermolytic | KERATODERMA, EPIDERMOLYTIC PALMOPLANTAR | Keratoderma, Epidermolytic Palmoplantar | Keratoderma, Palmoplantar, Epidermolytic | Keratoderma, Palmoplantar, Epidermolytic [Disease/Finding] | Keratodermas, Epidermolytic Palmoplantar | Localized Epidermolytic Hyperkeratoses | Localized Epidermolytic Hyperkeratosis | Localized epidermolytic hyperkeratosis | PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC | Palmoplantar Keratoderma, Epidermolytic | Palmoplantar Keratodermas, Epidermolytic | Thost Unna Disease, Epidermolytic | Thost-Unna Disease, Epidermolytic | Unna Thost Disease, Epidermolytic | Unna-Thost Disease, Epidermolytic MSH2017_2016_08_12:An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9. | NCI2016_02D:A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas. HPO2016_07_04:HP:0007559|MSH2017_2016_08_12:D053546|OMIM2016_04_17:139350|OMIM2016_04_17:144200|OMIM2016_04_17:607606|OMIM2016_04_17:MTHU036853 C1834582 Myeloproliferative syndrome, transient LEUKEMIA, TRANSIENT | Leukemia, Transient | MST | MYELOPROLIFERATIVE SYNDROME, TRANSIENT | Myeloproliferative Syndrome, Transient | TAM | TMD | TRANSIENT ABNORMAL MYELOPOIESIS | Transient Abnormal Myelopoiesis | Transient Myeloproliferative Disorder | Transient abnormal myelopoiesis | Transient abnormal myelopoiesis (morphologic abnormality) | Transient myeloproliferative syndrome | transient myeloproliferative disorder NCI2016_02D:A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission. HPO2016_07_04:HP:0005534|MSH2017_2016_08_12:C563551|OMIM2016_04_17:159595|SNOMEDCT_US_2016_09_01:450934005 C1859121 Sternal punctate calcifications Sternal punctate calcifications HPO2016_07_04:HP:0006637|OMIM2016_04_17:MTHU013854 C3279660 Deafness, autosomal recessive 29 DEAFNESS, AUTOSOMAL RECESSIVE 29 | DFNB29 OMIM2016_04_17:605608|OMIM2016_04_17:614035 C0272302 Gray platelet syndrome BDPLT4 | BLEEDING DISORDER, PLATELET-TYPE, 4 | Deficient alpha granule syndrome | GPS | GRAY PLATELET SYNDROME | Gray Platelet Syndrome | Gray Platelet Syndrome [Disease/Finding] | Gray Platelet Syndromes | Gray platelet syndrome | Gray platelet syndrome (disorder) | Grey Platelet Syndrome | Grey Platelet Syndromes | Grey platelet syndrome | PLATELET ALPHA-GRANULE DEFICIENCY | Platelet Syndromes, Grey | Platelet alpha granule deficiency | Platelet granule defect | Syndrome, Gray Platelet | Syndrome, Grey Platelet | Syndromes, Gray Platelet | gray platelet syndrome | gray; syndrome, platelets | grey platelet syndrome | syndrome; gray, platelets MSH2017_2016_08_12:A rare, inherited platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with THROMBOCYTOPENIA, enlarged platelets, and prolonged bleeding time. | NCI2016_02D:A rare inherited bleeding disorder characterized by the decrease or absence of the platelet alpha-granules and their proteins in the peripheral blood platelets. ICD10CM_2017:D69.1|MSH2017_2016_08_12:D055652|OMIM2016_04_17:139090|OMIM2016_04_17:614169|SNOMEDCT_US_2016_09_01:51720005 C0398746 Gluthathione synthetase deficiency 5 oxoprolinuria | 5-OXOPROLINURIA | 5-Oxoprolinuria | 5-oxoprolinemia | 5-oxoprolinuria | Deficiency of Glutathione Synthase | Deficiency of Glutathione Synthetase | Deficiency of glutathione synthase | Deficiency of glutathione synthase (disorder) | Deficiency of glutathione synthetase | GLUTATHIONE SYNTHETASE DEFICIENCY | GSSD | Glutathione synthase deficiency with 5-oxoprolinuria | Glutathione synthase deficiency with 5-oxoprolinuria (disorder) | Glutathione synthetase deficiency | Glutathione synthetase deficiency (disorder) | Gluthathione synthetase deficiency | Gluthathione synthetase deficiency (disorder) | PYROGLUTAMIC ACIDURIA | Pyroglutamic Acidemia | Pyroglutamic acidaemia | Pyroglutamic acidemia | Pyroglutamic aciduria | gluthathione synthetase deficiency (diagnosis) | pyroglutamic acidemia HPO2016_07_04:HP:0003343|MSH2017_2016_08_12:C536835|OMIM2016_04_17:266130|OMIM2016_04_17:601002|SNOMEDCT_US_2016_09_01:124706000|SNOMEDCT_US_2016_09_01:234589002|SNOMEDCT_US_2016_09_01:39112005 C0002876 Congenital dyserythropoietic anemia Anemia, Congenital Dyserythropoietic | Anemia, Dyserythropoietic, Congenital | Anemia, Dyserythropoietic, Congenital [Disease/Finding] | Anemia, congenital dyserythropoietic | Anemia, congenital dyshematopoietic | Anemias, Congenital Dyserythropoietic | CDA | CDA - Congenital dyserythropoietic anaemia | CDA - Congenital dyserythropoietic anemia | CDA, NOS | Congenital Dyserythropoietic Anemia | Congenital Dyserythropoietic Anemias | Congenital dyserythropoietic anaemia | Congenital dyserythropoietic anaemia, NOS | Congenital dyserythropoietic anemia | Congenital dyserythropoietic anemia (disorder) | Congenital dyserythropoietic anemia, NOS | Congenital dyshaematopoietic anaemia | Congenital dyshematopoietic anemia | Dyserythropoietic Anemia, Congenital | Dyserythropoietic Anemias, Congenital | Dyshematopoietic anemia (congenital) | cda | congenital dyserythropoietic anemia MSH2017_2016_08_12:A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test. | NCI2016_02D:A rare congenital anemia caused by mutations in the CDAN1 and SEC23B genes. HPO2016_07_04:HP:0004810|ICD10CM_2017:D64.4|MSH2017_2016_08_12:D000742|SNOMEDCT_US_2016_09_01:191272005|SNOMEDCT_US_2016_09_01:52951008 C1856742 Malaligned carpal bone Incorrect alignment of wrist bone | Malaligned carpal bone HPO2016_07_04:Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna). [HPO:sdoelken] HPO2016_07_04:HP:0006092|OMIM2016_04_17:MTHU013009 C0855100 Small lymphocytic lymphoma, stage iii B-Cell Small Lymphocytic Lymphoma Stage III | B-cell small lymphocytic lymphoma stage III | Small Lymphocytic Lymphoma Stage III | Small lymphocyte B lymphoma (Lukes-Collins Classification) stage III | Stage III B-Cell Small Lymphocytic Lymphoma | Stage III Small Lymphocytic Lymphoma | small lymphocytic lymphoma, stage III | stage III small lymphocytic lymphoma NCI2016_02D:Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S). C4280293 Afro-textured scalp hair Afro-textured scalp hair HPO2016_07_04:HP:0040149 C1275718 Granulomatous rosacea Granulomatous Rosacea | Granulomatous rosacea | Granulomatous rosacea (disorder) | Lupoid rosacea | Lupoid rosacea (disorder) | Lupus miliaris disseminatus faciei | Rosacea, Granulomatous | Rosacea-like tuberculid | disseminatus faciei lupus miliaris | granulomatous rosacea | rosacea lupoid MSH2017_2016_08_12:A variant of rosacea. MSH2017_2016_08_12:D012393|SNOMEDCT_US_2016_09_01:200932001|SNOMEDCT_US_2016_09_01:397845003|SNOMEDCT_US_2016_09_01:68805003 C3810018 Bilateral coxa valga Bilateral coxa valga HPO2016_07_04:The presence of bilateral coxa_valga. [HPO:probinson] HPO2016_07_04:HP:0010665 C4280590 Increased size of tooth Increased size of tooth | Large tooth | Tooth mass excess HPO2016_07_04:HP:0001572 C1333865 Grade 2 rectal adenocarcinoma Grade 2 Rectal Adenocarcinoma | Grade II Rectal Adenocarcinoma | Moderately Differentiated Rectal Adenocarcinoma NCI2016_02D:A rectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with 50-95% glandular formation. C0036601 Self mutilation Deliberate self-harm | Mutilation (Self) | Mutilation, Self | SELF MUTILATION | Self Mutilation | Self Mutilation [Disease/Finding] | Self mutilation | Self mutilation, NOS | Self-mutilation | Self-mutilation (disorder) | Self-mutilation (finding) | Wound, self-inflicted | [X]Self mutilation | [X]Self mutilation (finding) | inflicted injuries self | inflicted injury self | injuries self inflicted | mutilation self | self inflicted injury | self inflicted wounds | self mutilating behavior | self mutilation | self-inflicted injury | self-inflicted wound | self-mutilation MSH2017_2016_08_12:The act of injuring one's own body to the extent of cutting off or permanently destroying a limb or other essential part of a body. | NANDA-I_2015-2017:Deliberate self-injurious behavior causing tissue damage with the intent of causing nonfatal injury to attain relief of tension. | PSY2004:Act of inflicting permanent physical damage to oneself, such as cutting off or destroying a limb or other part of the body. Compare SELF INFLICTED WOUNDS. HPO2016_07_04:HP:0000742|MSH2017_2016_08_12:D012652|OMIM2016_04_17:MTHU004614|OMIM2016_04_17:MTHU018056|SNOMEDCT_US_2016_09_01:130968006|SNOMEDCT_US_2016_09_01:222305004|SNOMEDCT_US_2016_09_01:248063001|SNOMEDCT_US_2016_09_01:45884008 C1856019 Abnormal cortical gyration Abnormal cortical gyration | Abnormal gyration | Abnormal gyrations | Cerebral gyral anomalies HPO2016_07_04:An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. [HPO:curators] HPO2016_07_04:HP:0002536|OMIM2016_04_17:MTHU002701|OMIM2016_04_17:MTHU012373|OMIM2016_04_17:MTHU015849|OMIM2016_04_17:MTHU033019 C4078288 Speech-sound disorder, hereditary Speech-Sound Disorder, hereditary MSH2017_2016_08_12:C563928 C3897525 Stage iiic rectal cancer Stage IIIC Rectal Cancer | Stage IIIC Rectal Cancer AJCC v7 NCI2016_02D:Stage IIIC includes: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. T4b: Tumor directly invades or is adherent to other organs or structures. N1: Metastasis in 1-3 regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. N2a: Metastasis in 4-6 regional lymph nodes. N2b: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.) C0426818 Thin rib Slender ribs | Thin rib | Thin rib (finding) | Thin ribs HPO2016_07_04:Ribs with a reduced diameter. [HPO:probinson] HPO2016_07_04:HP:0000883|OMIM2016_04_17:MTHU004623|OMIM2016_04_17:MTHU005900|SNOMEDCT_US_2016_09_01:249697003 C0031069 Familial mediterranean fever ARMENIAN DISEASE | Benign Paroxysmal Peritonitides | Benign Paroxysmal Peritonitis | Benign paroxysmal peritonitis | Disease, Periodic | Disease, Wolff Periodic | Disease, Wolff's Periodic | Diseases, Periodic | FAMILIAL MEDITERRANEAN FEVER | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE | FMF | FMF - Familial Mediterranean fever | FMF autosomal recessive | Familial Mediterranean Fever | Familial Mediterranean Fever [Disease/Finding] | Familial Mediterranean Fever, Autosomal Recessive | Familial Mediterranean fever | Familial Mediterranean fever (disorder) | Familial Paroxysmal Polyserositides | Familial Paroxysmal Polyserositis | Familial mediterranean fever | Familial paroxysmal polyserositis | Familial recurrent polyserositis | MEDITERRANEAN FEVER, FAMILIAL | MEF - Familial Mediterranean fever | Mediterranean Fever, Familial | PERIODIC POLYSEROSITIS | PERITONITIS, PERIODIC | POLYSEROSITIS, FAMILIAL PAROXYSMAL | POLYSEROSITIS, RECURRENT | Paroxysmal Peritonitides, Benign | Paroxysmal Peritonitis, Benign | Paroxysmal Polyserositides, Familial | Paroxysmal Polyserositis, Familial | Paroxysmal polyserositis | Periodic Disease | Periodic Disease, Wolff | Periodic Disease, Wolff's | Periodic Disease, Wolffs | Periodic Diseases | Periodic Peritonitides | Periodic Peritonitis | Periodic disease | Periodic diseases | Periodic familial peritonitis | Periodic fever | Periodic peritonitis | Periodic polyserositis | Peritonitides, Benign Paroxysmal | Peritonitides, Periodic | Peritonitis, Benign Paroxysmal | Peritonitis, Periodic | Polyserositides, Familial Paroxysmal | Polyserositides, Recurrent | Polyserositis, Familial Paroxysmal | Polyserositis, Recurrent | REIMANN PERIODIC DISEASE | Recurrent Polyserositides | Recurrent Polyserositis | Recurrent polyserositis | SIEGAL-CATTAN-MAMOU DISEASE | Wolff Periodic Disease | Wolff's Periodic Disease | Wolffs Periodic Disease | armenian disease | familial Mediterranean fever | familial Mediterranean fever (diagnosis) | familial Mediterranean fever with recurrent polyserositis | familial Mediterranean fever with recurrent polyserositis (diagnosis) | familial mediterranean fever | familial mediterranean fever autosomal recessive | familial mediterranean fever autosomal recessive (diagnosis) | fever; mediterranean, familial | fmf | mediterranean familial fever | mediterranean fever familial | mediterranean; fever, familial | periodic disease | periodic diseases | periodic; peritonitis | periodic; polyserositis | peritonitis; periodic | polyserositis; periodic | recurrent polyserositis MSH2017_2016_08_12:A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease. | NCI2016_02D:A usually autosomal recessive inherited inflammatory disorder caused by mutations in the MEFV gene. It is characterized by recurrent painful inflammatory attacks in the abdomen, joints, and chest. The inflammatory attacks are associated with fever. | NCI2016_NICHD_1602D:An autoinflammatory disease caused by MEFV gene mutations resulting in enhanced IL-1 beta production. This results in attacks of fever, rash, peritoneal, pleural, or pericardial serositis, and/or synovial inflammation along with increased acute phase reactants. Complications may include vasculitis or amyloidosis. ICD10CM_2017:M04.1|ICD9CM_2014:277.31|MSH2017_2016_08_12:D010505|OMIM2016_04_17:249100|OMIM2016_04_17:608107|SNOMEDCT_US_2016_09_01:12579009 C0264680 Status anginosus Status anginosus | Status anginosus (disorder) | Status anginosus [dup] (disorder) | status anginosus (diagnosis) SNOMEDCT_US_2016_09_01:19057007|SNOMEDCT_US_2016_09_01:194831004 C0278061 Abnormal mental state Abnormal mental state | Abnormal mental state (finding) | Abnormal mentation | Altered Mental Status | Altered mental status | Altered mental status (finding) | MENTAL STATE ABNORMAL | MENTAL STATUS ALTERED | Mental state abnormal | alter mental status | altered mental status | mental impairment | mental subnormality NCI2016_02D:A change to an individual's judgment, orientation (to place, time, and self), intellectual functioning, or mood from their baseline. | NCI2016_NICHD_1602D:A change to an individual's judgment, orientation (to place, time, and self), intellectual functioning, or mood from their baseline. ICD9CM_2014:780.97|OMIM2016_04_17:MTHU044950|SNOMEDCT_US_2016_09_01:1855002|SNOMEDCT_US_2016_09_01:228150001|SNOMEDCT_US_2016_09_01:31748000|SNOMEDCT_US_2016_09_01:419284004 C1395674 Bowel diverticulosis Bowel diverticulosis | diverticulosis; bowel HPO2016_07_04:The presence of multiple diverticula of the intestine. [HPO:probinson] HPO2016_07_04:HP:0005222 C0302356 Hemicrania Anencephalies, Partial | Anencephaly, Hemicranial | Anencephaly, Incomplete | Anencephaly, Partial | Hemianencephaly | Hemianencephaly (disorder) | Hemicrania | Hemicranial Anencephaly | Incomplete Anencephaly | Incomplete anencephaly | Incomplete anencephaly (disorder) | Incomplete anencephaly [Ambiguous] | Partial Anencephalies | Partial Anencephaly | anencephaly incomplete | hemianencephaly | hemianencephaly (diagnosis) | hemicrania | incomplete anencephaly | incomplete anencephaly (diagnosis) | incomplete anencephaly, hemicrania ICD10CM_2017:Q00.0|MSH2017_2016_08_12:D000757|SNOMEDCT_US_2016_09_01:203924005|SNOMEDCT_US_2016_09_01:359824007|SNOMEDCT_US_2016_09_01:85641006 C0004606 Nonproliferative diabetic retinopathy BDR - Background diabetic retinopathy | Background Diabetic Retinopathy | Background diabetic retinopathy | Background diabetic retinopathy (diagnosis) | Background diabetic retinopathy (disorder) | NPDR - Non proliferative diabetic retinopathy | Non proliferative diabetic retinopathy | Non proliferative diabetic retinopathy (disorder) | Non-Proliferative Diabetic Retinopathy | Non-proliferative diabetic retinopathy | Non-visually threatening diabetic retinopathy | Nonproliferative diabetic retinopathy | Nonproliferative diabetic retinopathy (disorder) | Nonproliferative diabetic retinopathy NOS | background diabetic retinopathy | diabetes mellitus with nonproliferative diabetic retinopathy | diabetes with nonproliferative diabetic retinopathy | diabetes with nonproliferative diabetic retinopathy (diagnosis) | diabetic retinopathy background | nonproliferative diabetic retinopathy ICD9CM_2014:362.01|ICD9CM_2014:362.03|SNOMEDCT_US_2016_09_01:154680004|SNOMEDCT_US_2016_09_01:31411005|SNOMEDCT_US_2016_09_01:390718008|SNOMEDCT_US_2016_09_01:390834004 C0272051 Xerocytosis DEHYDRATED HEREDITARY STOMATOCYTOSIS | DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA | DESICCYTOSIS, HEREDITARY | DHS | DHS1 | Dehydrated hereditary stomatocytosis | Dehydrated hereditary stomatocytosis (disorder) | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and-or perinatal edema hemophagocytic lymphohistiocytosis | Desiccytosis, hereditary | Dessicocytosis | Hereditary Xerocytosis | Hereditary xerocytosis | PSEUDOHYPERKALEMIA EDINBURGH | PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK | PSHK1 | XEROCYTOSIS, HEREDITARY | Xerocytosis | Xerocytosis (disorder) | Xerocytosis, hereditary | hereditary xerocytosis | xerocytosis SNOMEDCT_US_2016_09_01:A rare haemolytic anaemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated haemolysis. Pseudohyperkalaemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant. | SNOMEDCT_US_2016_09_01:A rare hemolytic anemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant. MSH2017_2016_08_12:C536764|OMIM2016_04_17:194380|OMIM2016_04_17:611184|SNOMEDCT_US_2016_09_01:715526002|SNOMEDCT_US_2016_09_01:87994004 C1336864 Anaplastic carcinoma of the rectum Anaplastic Carcinoma of Rectum | Anaplastic Carcinoma of the Rectum | Carcinoma Simplex of the Rectum. | Rectal Anaplastic Carcinoma | Rectal Undifferentiated Carcinoma | Undifferentiated Carcinoma of Rectum | Undifferentiated Carcinoma of the Rectum | Undifferentiated Rectal Carcinoma | anaplastic carcinoma of rectum | anaplastic carcinoma of rectum (diagnosis) | carcinoma simplex of rectum | carcinoma simplex of rectum (diagnosis) | undifferentiated carcinoma of rectum | undifferentiated carcinoma of rectum (diagnosis) NCI2016_02D:An invasive malignant epithelial tumor that arises from the rectum. There is no morphologic, immunophenotypic, or molecular biological evidence of glandular or squamous differentiation. C0178573 Behavior criminal Behavior, Criminal | Behavior, Illegal | Behavior, Illicit | Behavior, Unlawful | Behaviors, Criminal | Behaviors, Illegal | Behaviors, Illicit | Behaviors, Unlawful | Conduct, Criminal | Criminal Behavior | Criminal Behaviors | Criminal Conduct | Criminal Intent | Criminal Intents | Criminal behavior | Criminal behavior (finding) | Criminal behaviour | Criminality | Illegal Behavior | Illegal Behaviors | Illicit Behavior | Illicit Behaviors | Intent, Criminal | Intents, Criminal | Offending behavior | Offending behaviour | Unlawful Behavior | Unlawful Behaviors | behavior criminal | behaviour offending | criminal behavior | criminal behavior (history) | criminality | offending behaviour CSP2006:behavior leading to and including the commission of an unlawful act, usually by an adult; do not confuse with CRIMINOLOGY, which is the study of criminal behavior, or with JUVENILE DELINQUENCY, which applies to children. | MSH2017_2016_08_12:Conduct leading to commission of unlawful acts. MSH2017_2016_08_12:D000066479|SNOMEDCT_US_2016_09_01:91249009 C0006272 Bronchiolitis obliterans BO | BRONCHIOLITIS OBLITERANS | Bronchiolitis Obliterans | Bronchiolitis Obliterans [Disease/Finding] | Bronchiolitis obliterans | OB - Obliterative bronchiolitis | OBLITERATIVE BRONCHIOLITIS | Obliterative bonchiolitis | Obliterative bronchiolitis | Obliterative bronchiolitis (disorder) | Obliterative bronchiolitis, NOS | bronchiolitis obliterans | bronchiolitis obliterans (diagnosis) | bronchiolitis obliterative | bronchiolitis; obliterative | obliterative bronchiolitis | obliterative bronchiolitis (diagnosis) | obliterative; bronchiolitis HPO2016_07_04:Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways. [HPO:probinson] | MSH2017_2016_08_12:Inflammation of the BRONCHIOLES leading to an obstructive lung disease. Bronchioles are characterized by fibrous granulation tissue with bronchial exudates in the lumens. Clinical features include a nonproductive cough and DYSPNEA. | NCI2016_02D:Inflammation of the bronchioles with obstruction by fibrous granulation tissue or bronchial exudate. It may follow inhalation of irritating gases or foreign bodies and it complicates pneumonia. | NCI2016_NCI-GLOSS_1602D:A condition in which the bronchioles (tiny branches of air tubes in the lungs) become inflamed and blocked. It may be caused by breathing in gases or particles that irritate the bronchioles. This irritation causes scar tissue to form, and makes breathing difficult. Bronchiolitis olbiterans may be caused by other factors, and can also occur after a transplant with an organ or stem cells from a matched donor. HPO2016_07_04:HP:0011946|MSH2017_2016_08_12:D001989|SNOMEDCT_US_2016_09_01:40100001 C2936779 Hydroxymethylbilane synthase deficiency Deaminase Deficiencies, Porphobilinogen | Deaminase Deficiency, Porphobilinogen | Deficiencies, Hydroxymethylbilane Synthase | Deficiencies, PBGD | Deficiencies, Porphobilinogen Deaminase | Deficiencies, UPS | Deficiencies, Uroporphyrinogen Synthase | Deficiency, Hydroxymethylbilane Synthase | Deficiency, PBGD | Deficiency, Porphobilinogen Deaminase | Deficiency, UPS | Deficiency, Uroporphyrinogen Synthase | Hydroxymethylbilane Synthase Deficiencies | Hydroxymethylbilane Synthase Deficiency | PBGD - Porphobilinogen deaminase deficiency | PBGD DEFICIENCY | PBGD Deficiencies | PBGD Deficiency | PBGD deficiency | PORPHOBILINOGEN DEAMINASE DEFICIENCY | PORPHYRIA, SWEDISH TYPE | Porphobilinogen Deaminase Deficiencies | Porphobilinogen Deaminase Deficiency | Porphobilinogen deaminase deficiency | Porphobilinogen deaminase deficiency (disorder) | Porphyria, Swedish Type | Porphyrias, Swedish Type | Swedish Type Porphyria | Swedish Type Porphyrias | Synthase Deficiencies, Hydroxymethylbilane | Synthase Deficiencies, Uroporphyrinogen | Synthase Deficiency, Hydroxymethylbilane | Synthase Deficiency, Uroporphyrinogen | Type Porphyria, Swedish | Type Porphyrias, Swedish | UPS DEFICIENCY | UPS Deficiencies | UPS Deficiency | UROPORPHYRINOGEN SYNTHASE DEFICIENCY | Uroporphyrinogen 1 synthase deficiency | Uroporphyrinogen Synthase Deficiencies | Uroporphyrinogen Synthase Deficiency MSH2017_2016_08_12:D017118|OMIM2016_04_17:176000|SNOMEDCT_US_2016_09_01:276263005|SNOMEDCT_US_2016_09_01:90842001 C3280440 Vesicoureteral reflux 5 VESICOURETERAL REFLUX 5 | VUR5 OMIM2016_04_17:614318 C0017531 Angiolymphoid hyperplasia AFLH | Angiofollicular Lymph Hyperplasia | Angiofollicular Lymph Hyperplasias | Angiofollicular Lymph Node Hyperplasia | Angiofollicular Lymphoid Hyperplasia | Angiofollicular Lymphoid Hyperplasias | Angiofollicular lymph node hyperplasia | Angiofollicular lymph node hyperplasia (disorder) | Angiofollicular lymph node hyperplasia (disorder) [Ambiguous] | Angiolymphoid hyperplasia | Angiomatous lymphoid hamartoma | Benign angiofollicular hyperplasia | CASTLEMAN DISEASE | Castleman Disease | Castleman Tumor | Castleman disease | Castleman's Disease | Castleman's Tumor | Castleman's disease | Castleman's disease (diagnosis) | Castleman's disease (disorder) | Castleman's disease, unicentric | Castlemans Disease | Castlemans Tumor | GLNH | Giant Lymph Node Hyperplasia | Giant Lymph Node Hyperplasia [Disease/Finding] | Giant lymph node hyperplasia | Giant lymph node hyperplasia (disorder) | Hyperplasia, Angiofollicular Lymph | Hyperplasia, Angiofollicular Lymphoid | Hyperplasia, Giant Lymph Node | Hyperplasias, Angiofollicular Lymph | Hyperplasias, Angiofollicular Lymphoid | Lymph Node Hyperplasia, Giant | Lymphoid Hyperplasia, Angiofollicular | Lymphoid Hyperplasias, Angiofollicular | Tumor, Castleman's | [D] Castleman's disease | [D] Castleman's disease (disorder) | angiofollicular lymphoid hyperplasia | angiolymphoid hyperplasia | castleman disease | castleman's disease | castleman's tumor | castlemans disease | castlemans tumor | giant lymph node hyperplasia | lymphoproliferative disease castleman's disease | unicentric Castleman's disease MSH2017_2016_08_12:Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and IMMUNOGLOBULIN A. | NCI2016_02D:A disorder characterized by lymphoid hyperplasia in the lymph nodes. There are two histologic variants recognized: the hyaline-vascular type and the plasma cell type. In the hyaline vascular type there are hyalinized vessels present in the lymphoid follicles. In the plasma cell type there is pronounced plasma cell proliferation. Clinically, the disease may be localized; manifested with localized lymphadenopathy, or multicentric; manifested with generalized lymphadenopathy, fever, organomegaly, and sometimes POEMS syndrome. In contrast to patients with localized disease who are usually cured following resection of the lesion, patients with the multicentric form of the disease may follow a progressive clinical course, complicated by infection, Kaposi sarcoma or lymphoma. | NCI2016_NCI-GLOSS_1602D:A rare disorder in which growths that are benign (not cancer) develop in lymph node tissue. ICD10CM_2017:D47.Z2|MSH2017_2016_08_12:D005871|SNOMEDCT_US_2016_09_01:207036003|SNOMEDCT_US_2016_09_01:238809002|SNOMEDCT_US_2016_09_01:367497006|SNOMEDCT_US_2016_09_01:69484003 C4022013 Multiple glomerular cysts Multiple glomerular cysts HPO2016_07_04:The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. [Eurenomics:fschaefer, pmid:20091054] HPO2016_07_04:HP:0100611 C4023010 Hyperplastic colonic polyposis Hyperplastic colonic polyposis HPO2016_07_04:Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation. [HPO:probinson] HPO2016_07_04:HP:0012183 C1860841 Swelling of proximal interphalangeal joints Swelling of innermost hinge joints | Swelling of proximal interphalangeal joints HPO2016_07_04:HP:0006253|OMIM2016_04_17:MTHU015212 C1848771 Prominent superficial vasculature Prominent superficial blood vessels | Prominent superficial vasculature HPO2016_07_04:HP:0007394|OMIM2016_04_17:MTHU009029 C1848578 Methylmalonic aciduria and homocystinuria, cblf type (disorder) COBALAMIN F DISEASE | COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF | Cobalamin F Disease | Cobalamin, Defect in Lysosomal Release of | METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblF TYPE | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder) | METHYLMALONIC ACIDURIA DUE TO VITAMIN B12-RELEASE DEFECT | Methylmalonic Acidemia and Homocystinuria, CblF Type | Methylmalonic Aciduria and Homocystinuria, CblF Type | Methylmalonic Aciduria due to Vitamin B12-Release Defect | VITAMIN B12 LYSOSOMAL RELEASE DEFECT | VITAMIN B12 STORAGE DISEASE | Vitamin B12 Lysosomal Release Defect | Vitamin B12 Storage Disease | cblF MSH2017_2016_08_12:C564747|OMIM2016_04_17:277380|OMIM2016_04_17:612625 C0205650 Papillary adenoma ADENOMA, PAPILLARY, BENIGN | Adenoma, Papillary | Adenomas, Papillary | Papillary Adenoma | Papillary Adenomas | Papillary adenoma | Papillary adenoma (morphologic abnormality) | Papillary adenoma NOS | Papillary adenoma, NOS | [M]Papillary adenoma NOS | [M]Papillary adenoma NOS (morphologic abnormality) | papillary adenoma NCI2016_02D:An adenoma characterized by the presence of papillary epithelial patterns. | NCI2016_CDISC_1602D:A benign epithelial neoplasm characterized by the presence of papillary epithelial patterns. MSH2017_2016_08_12:D000236|SNOMEDCT_US_2016_09_01:189620009|SNOMEDCT_US_2016_09_01:86143001 C4021242 Hypoplasia of the zygomatic bone Cheekbone underdevelopment | Decreased size of cheekbone | Decreased size of zygomatic bone | Hypoplasia of cheekbone | Hypoplasia of the zygomatic bone | Hypotrophy of the cheekbone | Hypotrophy of the zygomatic bone | Underdevelopment of cheekbone | Underdevelopment of zygomatic bone HPO2016_07_04:Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. [HPO:probinson, orcid.org/0000-0001-5889-4463, pmid:19125436] HPO2016_07_04:HP:0010669 C1853096 High density lipoprotein cholesterol level quantitative trait locus 6 HDLCQ6 | HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 OMIM2016_04_17:601040|OMIM2016_04_17:610762 C1304410 Serum sickness type vasculitis Serum sickness type vasculitis | Serum sickness type vasculitis (disorder) SNOMEDCT_US_2016_09_01:402658008 C0679145 Sexual addiction Addiction;sex | Sex addiction | Sexual Addiction | addiction sex | addiction sexual | addictions sex | addictions sexual | sex addiction | sexual addiction HPO2016_07_04:HP:0030214 C1859817 2-aminoadipic 2-oxoadipic aciduria 2-@AMINOADIPIC 2-OXOADIPIC ACIDURIA | 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA | AMOXAD OMIM2016_04_17:204750|OMIM2016_04_17:614984 C1518748 Ovarian yolk sac tumor, hepatoid pattern Ovarian Yolk Sac Tumor, Hepatoid Pattern NCI2016_02D:A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue. C3541340 Pontine tegmental cap dysplasia PONTINE TEGMENTAL CAP DYSPLASIA | PTCD OMIM2016_04_17:614688 C2931218 Tetraamelia multiple malformations Tetra-amelia with multiple malformation syndrome | Tetraamelia multiple malformations | Tetraamelia with multiple malformation syndrome | Tetraamelia with multiple malformation syndrome (disorder) | Zimmer Taub Sova syndrome | Zimmer phocomelia SNOMEDCT_US_2016_09_01:An extremely rare mostly lethal congenital disorder with characteristics of absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of Middle Eastern descent. MSH2017_2016_08_12:C536500|SNOMEDCT_US_2016_09_01:716249009 C0007855 Cervical polyp CERVICAL POLYP | CERVICAL UTERINE POLYP | Cervical polyp | Cervical uterine polyp | POLYP CERVIX | Polyp NOS of cervix | Polyp of cervix | Polyp of cervix (disorder) | Polyp of cervix NOS | Polyp of cervix NOS (disorder) | Polyp of cervix uteri | Polyp of cervix, NOS | Polyp(s);cervical | cervical polyp | cervical polyps | cervical polyps (diagnosis) | cervix polyp | cervix polyps | cervix; polyp | polyp cervical | polyp cervix | polyp; cervix | polyp; uterus, cervix | uterus; polyp, cervix HPO2016_07_04:Abnormal growth of tissue projecting from a mucous membrane of the endocervix. [HPO:probinson, pmid:21270291] HPO2016_07_04:HP:0030159|ICD10CM_2017:N84.1|SNOMEDCT_US_2016_09_01:198354006|SNOMEDCT_US_2016_09_01:237089001|SNOMEDCT_US_2016_09_01:65576009 C2931322 T-lymphocytopenia Decreased numbers of circulating T cells | Low T cell count | Reduced number of T cells | Reduced numbers of T cells | T lymphocytopenia | T-Lymphocytopenia HPO2016_07_04:An abnormally low count of T cells. [HPO:probinson] HPO2016_07_04:HP:0005403|MSH2017_2016_08_12:C536783|OMIM2016_04_17:MTHU002627|OMIM2016_04_17:MTHU011466|OMIM2016_04_17:MTHU012131|OMIM2016_04_17:MTHU014318 C0004903 Beckwith-wiedemann syndrome BECKWITH-WIEDEMANN SYNDROME | BWS | Beckwith Wiedemann Syndrome | Beckwith syndrome | Beckwith syndrome (diagnosis) | Beckwith's syndrome | Beckwith-Wiedemann | Beckwith-Wiedemann Syndrome | Beckwith-Wiedemann Syndrome [Disease/Finding] | Beckwith-Wiedemann syndrome | Beckwith-Wiedemann syndrome (BW, BWS) | Beckwith-Wiedemann syndrome (disorder) | EMG SYNDROME | EMG Syndrome | EMG Syndromes | EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME | Exomphalos-Macroglossia-Gigantism Syndrome | Exomphalos-macroglossia-gigantism syndrome | Syndrome, Beckwith-Wiedemann | Syndrome, EMG | Syndrome, Wiedemann-Beckwith | Syndrome, Wiedemann-Beckwith (WBS) | Syndromes, EMG | Syndromes, Wiedemann-Beckwith (WBS) | WBS | WIEDEMANN-BECKWITH SYNDROME | Wiedemann Beckwith Syndrome | Wiedemann Beckwith Syndrome (WBS) | Wiedemann syndrome | Wiedemann-Beckwith Syndrome | Wiedemann-Beckwith Syndrome (WBS) | Wiedemann-Beckwith Syndromes (WBS) | Wiedemann-Beckwith syndrome | Wiedemann-Beckwith syndrome (WBS) | Wiedemann-Beckwith-Combs syndrome | beckwith syndrome | beckwith syndrome wiedemann | beckwith wiedemann syndrome | beckwith's syndrome | beckwith-wiedemann syndrome | emg syndrome | exomphalos-macroglossia-gigantism (EMG) syndrome | exomphalos-macroglossia-gigantism syndrome | familial macroglossia-omphalocele syndrome | macroglossia-omphalocele syndrome | macroglossia-omphalocele-visceromegaly syndrome | syndrome emg | syndrome wiedemann | wiedemann beckwith syndrome | wiedemann syndrome JABL99:Enlarged tongue, omphalocele and other umbilical abnormalities, cytomegaly of the adrenal cortex, hyperplasia of gonadal interstitial cells, renal hyperplasia with medullary dysplasia, pancreatic hyperplasia, visceromegaly, and hypoglycemia with various neoplastic diseases and other disorders. | MSH2017_2016_08_12:A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | NCI2016_02D:A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, Rhabdomyosarcoma) and adrenal cortex carcinomas. | NCI2016_NCI-GLOSS_1602D:A rare, overgrowth disorder in which babies are large at birth and may develop low blood sugar. Other common symptoms are a large tongue, large internal organs, and defects of the abdominal wall near the navel. Beckwith-Wiedemann syndrome increases the risk of developing certain cancers, especially Wilms tumor. ICD10CM_2017:Q87.3|MSH2017_2016_08_12:D001506|OMIM2016_04_17:130650|OMIM2016_04_17:600856|OMIM2016_04_17:604115|OMIM2016_04_17:606681|OMIM2016_04_17:616186|SNOMEDCT_US_2016_09_01:81780002 C0748277 Renal cell carcinoma metastatic stage stageval RENAL CELL CARCINOMA METASTATIC STAGE STAGEVAL C4021610 Bilateral lung agenesis Bilateral lung agenesis | Bilateral pulmonary agenesis HPO2016_07_04:Bilateral lack of development of the lungs. [HPO:probinson] HPO2016_07_04:HP:0005944 C3178777 Bisphosphonate associated osteonecrosis of the jaw Bisphosphonate Associated Osteonecrosis of the Jaw | Bisphosphonate Associated Osteonecrosis of the Jaws | Bisphosphonate Induced Osteonecrosis of the Jaw | Bisphosphonate Induced Osteonecrosis of the Jaws | Bisphosphonate Related Osteonecrosis of the Jaw | Bisphosphonate related osteonecrosis of jaw | Bisphosphonate-Associated Osteonecrosis of the Jaw | Bisphosphonate-Associated Osteonecrosis of the Jaw [Disease/Finding] | Bisphosphonate-Associated Osteonecrosis of the Jaws | Bisphosphonate-Induced Osteonecrosis of the Jaw | Bisphosphonate-Induced Osteonecrosis of the Jaws | Bisphosphonate-Related Osteonecrosis of the Jaw | Osteonecrosis of jaw caused by bisphosphonate | Osteonecrosis of jaw caused by bisphosphonate (disorder) | Osteonecrosis of jaw caused by diphosphonate | Osteonecrosis of jaw due to bisphosphonate | Osteonecrosis of jaw due to bisphosphonate (disorder) | Osteonecrosis of the Jaw, Bisphosphonate Associated | Osteonecrosis of the Jaw, Bisphosphonate Induced | Osteonecrosis of the Jaw, Bisphosphonate Related | Osteonecrosis of the Jaw, Bisphosphonate-Associated | Osteonecrosis of the Jaw, Bisphosphonate-Induced | Osteonecrosis of the Jaw, Bisphosphonate-Related | Osteonecrosis of the Jaws, Bisphosphonate Associated | Osteonecrosis of the Jaws, Bisphosphonate Induced | Osteonecrosis of the Jaws, Bisphosphonate Related | Osteonecrosis of the Jaws, Bisphosphonate-Associated | Osteonecrosis of the Jaws, Bisphosphonate-Induced | Osteonecrosis of the Jaws, Bisphosphonate-Related MSH2017_2016_08_12:Necrotic jaws or other maxillofacial skeleton necrosis associated with bisphosphonate use (see BISPHOSPHONATES). Injury, dental procedures, and trauma can trigger the necrotic process. MSH2017_2016_08_12:D059266|SNOMEDCT_US_2016_09_01:699687003 C0393690 Parietal lobe epilepsy Parietal lobe epilepsy | Parietal lobe epilepsy (disorder) OMIM2016_04_17:MTHU042657|SNOMEDCT_US_2016_09_01:230403005 C3665333 Keratitis-ichthyosis-deafness syndrome Desmond's syndrome | KIDS - Keratitis ichthyosis and deafness syndrome | Keratitis ichthyosis and deafness syndrome | Keratitis ichthyosis and deafness syndrome (disorder) | Keratitis ichthyosis deafness syndrome | Keratitis, Ichthyosis, and Deafness | Keratitis-Ichthyosis-Deafness Syndrome | Keratitis-ichthyosis-deafness syndrome | Kid syndrome MSH2017_2016_08_12:C580224|SNOMEDCT_US_2016_09_01:239059004|SNOMEDCT_US_2016_09_01:2625009 C4024722 Reduced factor vii activity Reduced factor VII activity HPO2016_07_04:Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. [HPO:probinson] HPO2016_07_04:HP:0008169 C1855285 Protruding ears Protruding ear | Protruding ears HPO2016_07_04:Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). [pmid:19152421] HPO2016_07_04:HP:0000411|OMIM2016_04_17:MTHU011660 C1997440 Arthropathy of knee joint Arthropathy of knee joint | Arthropathy of knee joint (disorder) | Disorder of knee joint | disorder of knee joint | disorder of knee joint (diagnosis) SNOMEDCT_US_2016_09_01:428724006 C0032768 Postherpetic neuralgia NEURALGIA POSTHERPETIC | Neuralgia, Postherpetic | Neuralgia, Postherpetic [Disease/Finding] | Neuralgia;post-herpetic | PHN | PHN - Post-herpetic neuralgia | POST HERPETIC NEURALGIA | Post herpetic neuralgia | Post-Herpetic Neuralgia | Post-herpetic Neuralgia | Post-herpetic neuralgia | Post-herpetic neuralgia (disorder) | Post-zoster neuralgia | Postherpetic Neuralgia | Postherpetic neuralgia | Postherpetic neuralgia (disorder) | Postzoster neuralgia | herpetic neuralgia post | neuralgia postherpetic | neuralgia; postherpetic (etiology) | neuralgia; postherpetic (manifestation) | neuralgias postherpetic | phn | post herpetic neuralgia | post-herpetic neuralgia | postherpetic neuralgia | postherpetic neuralgia (diagnosis) | postherpetic neuralgia (etiology) | postherpetic neuralgia (manifestation) | postherpetic; neuralgia (etiology) | postherpetic; neuralgia (manifestation) MSH2017_2016_08_12:Pain in nerves, frequently involving facial SKIN, resulting from the activation the latent varicella-zoster virus (HERPESVIRUS 3, HUMAN). The two forms of the condition preceding the pain are HERPES ZOSTER OTICUS; and HERPES ZOSTER OPHTHALMICUS. Following the healing of the rashes and blisters, the pain sometimes persists. | NCI2016_02D:Pain that occurs after the disappearance of herpes zoster infection lesions. | NCI2016_NICHD_1602D:Head or facial pain associated with a cutaneous eruption in the distribution of a nerve that persists or recurs after the onset of herpes zoster infection. MSH2017_2016_08_12:D051474|SNOMEDCT_US_2016_09_01:154327006|SNOMEDCT_US_2016_09_01:186516001|SNOMEDCT_US_2016_09_01:186522005|SNOMEDCT_US_2016_09_01:2177002 C0264882 Tricuspid valve disease Diseases of tricuspid valve | Tricuspid Valve Disease | Tricuspid Valve Disorder | Tricuspid valve abnormal | Tricuspid valve disease | Tricuspid valve disease NOS | Tricuspid valve disorder | Tricuspid valve disorder (disorder) | Tricuspid valve disorder, NOS | Tricuspid valve disorders NOS | Tricuspid valve disorders NOS (disorder) | tricuspid valve disease | tricuspid valve disorder | tricuspid valve disorder (diagnosis) | tricuspid valve disorders NCI2016_02D:A heart disorder characterized by a defect in tricuspid valve structure or function. | NCI2016_CTCAE_1602D:A disorder characterized by a defect in tricuspid valve function or structure. SNOMEDCT_US_2016_09_01:194994009|SNOMEDCT_US_2016_09_01:20721001 C0854988 Adenocarcinoma of lung, stage iv Adenocarcinoma lung stage IV | Adenocarcinoma of lung stage IV | Adenocarcinoma of lung, stage IV | Adenocarcinoma of lung, stage IV (finding) | Lung Adenocarcinoma, Stage IV | Lung adenocarcinoma metastatic | Lung adenocarcinoma stage IV | Metastatic Adenocarcinoma of Lung | Metastatic Adenocarcinoma of the Lung | Metastatic Lung Adenocarcinoma | Stage IV Adenocarcinoma of Lung | Stage IV Adenocarcinoma of the Lung | Stage IV Lung Adenocarcinoma | Stage IV Lung Adenocarcinoma AJCC v7 NCI2016_02D:Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b). M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion. M1b: Distant metastasis. (AJCC 7th ed.) SNOMEDCT_US_2016_09_01:424993006 C0153369 Malignant neoplasm of anterior portion of floor of mouth Malig neop ant, mouth floor | Malig tumor ant floor mouth | Malig tumour ant floor mouth | Malignant neoplasm of anterior floor of mouth | Malignant neoplasm of anterior portion of floor of mouth | Malignant tumor of anterior floor of mouth | Malignant tumor of anterior floor of mouth (disorder) | Malignant tumour of anterior floor of mouth | malignant neoplasm of anterior portion of floor of mouth | malignant neoplasm of anterior portion of floor of mouth (diagnosis) | malignant tumor of anterior portion of floor of mouth ICD10CM_2017:C04.0|ICD9CM_2014:144.0|SNOMEDCT_US_2016_09_01:187652003|SNOMEDCT_US_2016_09_01:93672006 C0278510 Medulloblastoma, childhood Brain tumor, child: Medulloblastoma | Childhood Medulloblastoma | Childhood Medulloblastomas | Medulloblastoma, Childhood | Medulloblastomas, Childhood | PNET, cerebellar, childhood | PNET, cerebellar, pediatric | PNET, childhood cerebellar | PNET, childhood infratentorial | PNET, infratentorial, childhood | PNET, infratentorial, pediatric | PNET, pediatric cerebellar | PNET, pediatric infratentorial | Pediatric Medulloblastoma | cerebellar PNET, childhood | cerebellar PNET, pediatric | cerebellar primitive neuroectodermal tumor, childhood | cerebellar primitive neuroectodermal tumor, pediatric | cerebellar, childhood, PNET | cerebellar, pediatric, PNET | childhood cerebellar PNET | childhood cerebellar primitive neuroectodermal tumor | childhood infratentorial PNET | childhood infratentorial primitive neuroectodermal tumor | childhood medulloblastoma | infratentorial PNET, childhood | infratentorial PNET, pediatric | infratentorial primitive neuroectodermal tumor, childhood | infratentorial primitive neuroectodermal tumor, pediatric | infratentorial, childhood, PNET | infratentorial, pediatric, PNET | medulloblastoma, childhood | medulloblastoma, pediatric | pediatric cerebellar PNET | pediatric cerebellar primitive neuroectodermal tumor | pediatric infratentorial PNET | pediatric infratentorial primitive neuroectodermal tumor | pediatric medulloblastoma | primitive neuroectodermal tumor, childhood cerebellar | primitive neuroectodermal tumor, childhood infratentorial | primitive neuroectodermal tumor, pediatric cerebellar | primitive neuroectodermal tumor, pediatric infratentorial NCI2016_02D:A medulloblastoma occurring in children. MSH2017_2016_08_12:D008527 C1865294 Pelvic hypoplasia with lower-limb arthrogryposis PELVIC HYPOPLASIA WITH LOWER-LIMB ARTHROGRYPOSIS | Pelvic Hypoplasia with Lower-Limb Arthrogryposis | Pelvic dysplasia arthrogryposis of lower limbs | Pelvic hypoplasia with arthrogryposis of lower limbs | Pelvic hypoplasia with lower limb arthrogryposis MSH2017_2016_08_12:C535548|OMIM2016_04_17:602484 C4053713 Childhood malignant fibrous histiocytoma of bone Childhood Malignant Fibrous Histiocytoma of Bone | Childhood Undifferentiated High Grade Pleomorphic Sarcoma | Childhood Undifferentiated High Grade Pleomorphic Sarcoma of Bone NCI2016_02D:An undifferentiated high grade pleomorphic sarcoma that arises from the bone and occurs during childhood. C1861456 Stiff skin syndrome SSKS | STIFF SKIN SYNDROME | Stiff Skin Syndrome NCI2016_02D:A rare, autosomal dominant inherited syndrome caused by mutations in the FBN1 gene. It is characterized by hard and thickened skin, usually over the entire body, and limited joint motility. MSH2017_2016_08_12:C566112|OMIM2016_04_17:134797|OMIM2016_04_17:184900 C0232726 Rectal tenesmus BEARING DOWN FEELING PAINFUL | Bearing down feeling painful | DEFAECATION URGE PAINFUL | DEFECATION URGE PAINFUL | Defaecation urge painful | Defecation urge painful | Ineffective straining at stool | RECTAL PRESSURE SEVERE | Rectal pressure severe | Rectal tenesmus | Rectal tenesmus (finding) | TENESMUS | TENESMUS, RECTAL | Tenesmus | Tenesmus (disorder) | Tenesmus (finding) | Tenesmus NOS | Tenesmus NOS (disorder) | Tenesmus NOS (finding) | Tenesmus symptom | Tenesmus, rectal | [D]Tenesmus | [D]Tenesmus (context-dependent category) | [D]Tenesmus (situation) | bowel urgency with straining | bowel urgency with straining (symptom) | bowel urgency with straining (tenesmus) | tenesmus HPO2016_07_04:A repeated, painful urge to defecate without excreting stool. [HPO:probinson] | NCI2016_02D:Painful spasm of the anal sphincter along with an urgent desire to defecate without the significant production of feces; associated with irritable bowel syndrome. HPO2016_07_04:HP:0012702|OMIM2016_04_17:MTHU025532|SNOMEDCT_US_2016_09_01:139363000|SNOMEDCT_US_2016_09_01:158454003|SNOMEDCT_US_2016_09_01:162084008|SNOMEDCT_US_2016_09_01:162087001|SNOMEDCT_US_2016_09_01:207151005|SNOMEDCT_US_2016_09_01:267053000|SNOMEDCT_US_2016_09_01:6548007 C1857041 Ectodermal dysplasia, ectrodactyly, and macular dystrophy ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME | EEM SYNDROME | EEM Syndrome | EEMS | Ectodermal Dysplasia-Ectrodactyly-Macular Dystrophy | Ectodermal dysplasia, ectrodactyly, and macular dystrophy MSH2017_2016_08_12:C536190|OMIM2016_04_17:114021|OMIM2016_04_17:225280 C2750790 Ciliary dyskinesia, primary, 13 CILD13 | CILIARY DYSKINESIA, PRIMARY, 13 | CILIARY DYSKINESIA, PRIMARY, 13, WITH OR WITHOUT SITUS INVERSUS | Ciliary Dyskinesia, Primary, 13 | Ciliary Dyskinesia, Primary, 13, With Or Without Situs Inversus MSH2017_2016_08_12:C567713|OMIM2016_04_17:613190|OMIM2016_04_17:613193 C1334717 Metastatic carcinoma in the adrenal medulla Metastatic Carcinoma in the Adrenal Medulla | Metastatic Carcinoma to the Adrenal Medulla NCI2016_02D:A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site. C1854678 Multiple pterygium syndrome, lethal type LMPS | Lethal Multiple Pterygium Syndrome | Lethal multiple pterygium syndrome | Lethal multiple pterygium syndrome (disorder) | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | Multiple Pterygium Syndrome, Lethal Type | Multiple pterygium syndrome lethal type | PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE | Pterygium Multiple syndrome, lethal type | Pterygium Syndrome, Multiple, Lethal Type NCI2016_02D:A rare variant of multiple pterygium syndrome, characterized by severe athrogryposis, pterygium, akinesia and often hydrops fetalis and cystic hygroma. This variant is fatal, usually during the second or third trimester of pregnancy. MSH2017_2016_08_12:C537377|OMIM2016_04_17:100690|OMIM2016_04_17:100720|OMIM2016_04_17:100730|OMIM2016_04_17:253290|SNOMEDCT_US_2016_09_01:60192008 C0150041 Feeling hopeless Cannot see a future | Feeling hopeless | Feeling hopeless (finding) | Feeling of Hopelessness | Feeling of hopelessness | Feeling of hopelessness (finding) | Feeling;hopeless | Feels there is no future | Hopeless | Hopelessness | Loss of hope for the future | Loss of hope for the future (finding) | Negative about the future | No hope for the future | feeling hopeless | feeling of hopelessness | feelings of hopelessness | feelings of hopelessness (symptom) | future hope | hopelessness | rndx hopelessness | rndx hopelessness (diagnosis) CCC2_5:Feeling of despair or futility and passive abandonment | NANDA-I_2015-2017:Subjective state in which an individual sees limited or no alternatives or personal choices available and is unable to mobilize energy on own behalf. | NCI2016_02D:The despair you feel when you have abandoned hope of comfort or success. | PSY2004:Feeling that one's physical, emotional, or social state is beyond improvement. SNOMEDCT_US_2016_09_01:247798006|SNOMEDCT_US_2016_09_01:307077003|SNOMEDCT_US_2016_09_01:389335004|SNOMEDCT_US_2016_09_01:390068009|SNOMEDCT_US_2016_09_01:56176007 C0020429 Hyperalgesia HYPERALGESIA | HYPERALGIA | Hyperalgesia | Hyperalgesia (finding) | Hyperalgesia [Disease/Finding] | Hyperalgesias | Hyperalgesic Sensations | Hyperalgia | Hyperpathia | Hyperpathia (finding) | Increased sensitivity to painful stimulus | hyperalgesia | hyperalgia | hyperpathia CSP2006:excessive sensitivity to painful stimuli. | MSH2017_2016_08_12:An increased sensation of pain or discomfort produced by mimimally noxious stimuli due to damage to soft tissue containing NOCICEPTORS or injury to a peripheral nerve. | NCI2016_02D:Abnormally increased pain sense. | NCI2016_NICHD_1602D:Abnormally increased pain sense. MSH2017_2016_08_12:D006930|OMIM2016_04_17:MTHU044601|SNOMEDCT_US_2016_09_01:140908006|SNOMEDCT_US_2016_09_01:163706006|SNOMEDCT_US_2016_09_01:279078006|SNOMEDCT_US_2016_09_01:55406008 C0856089 Flushing aggravated Flushing aggravated C0001956 Alcohol use disorder alcohol use disorder | alcohol use disorders C1835763 Vertebral body fusion Fusion of vertebral bodies | Vertebral body fusion HPO2016_07_04:HP:0002948|OMIM2016_04_17:MTHU014579|OMIM2016_04_17:MTHU017632 C0855175 Stage 0 bladder adenocarcinoma Bladder adenocarcinoma stage 0 | Stage 0 Bladder Adenocarcinoma | Stage 0 Bladder Adenocarcinoma AJCC v6 | Stage 0 Bladder Adenocarcinoma AJCC v7 NCI2016_02D:Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.) C0473876 Cryptogenic tularaemia Cryptogenic tularaemia | Cryptogenic tularemia | Cryptogenic tularemia (disorder) | Non-specific tularaemia | Non-specific tularemia | Typhoidal tularaemia | Typhoidal tularaemia (disorder) | Typhoidal tularemia | Typhoidal tularemia (disorder) | tularemia; typhoidal | typhoidal tularemia | typhoidal tularemia (diagnosis) | typhoidal; tularemia SNOMEDCT_US_2016_09_01:186292001|SNOMEDCT_US_2016_09_01:186293006|SNOMEDCT_US_2016_09_01:186294000|SNOMEDCT_US_2016_09_01:186295004|SNOMEDCT_US_2016_09_01:398554008|SNOMEDCT_US_2016_09_01:62769007 C4072821 Large, late-closing fontanelle Large, late-closing fontanelle HPO2016_07_04:HP:0000239 C0001198 Disease pink ACRODYNIA | Acrodynia | Acrodynia [Disease/Finding] | Acrodynia caused by mercury | Acrodynia caused by mercury (disorder) | Acrodynia caused by mercury poisoning | Acrodynia due to mercury | Acrodynia due to mercury (disorder) | Acrodynia due to mercury poisoning | Acrodynic Erythema | Bilderbeck's disease | Childhood Mercurialism, Chronic | Childhood Mercurialisms, Chronic | Chronic Childhood Mercurialism | Chronic Childhood Mercurialisms | DISEASE PINK | Disease pink | Erythema, Acrodynic | Erythredema polyneuropathy | Erythroedema polyneuropathy | Feer | Feer Disease | Feer's Disease | Feer's disease | Feers Disease | Mercurialism, Chronic Childhood | Pink Disease | Pink disease | Selter's disease | Swift | Swift Disease | Swift disease | Swift's Disease | Swift-Feer disease | Swifts Disease | acrodynia | disease pinks | disease; pink | erythredema | erythredema; polyneuritic | feer disease | feer's disease | pink disease | pink; disease | polyneuropathy erythredema | swift disease | swift's disease | swifts disease MSH2017_2016_08_12:A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603) MSH2017_2016_08_12:D000170|SNOMEDCT_US_2016_09_01:212844002|SNOMEDCT_US_2016_09_01:66695004 C0026766 Multiple organ failure Failure, Multiple Organ | MODS | MODS - Multiple organ dysfunction syndrome | MOF | MOF - Multiple organ failure | MOF syndrome | MOSF - Multiple organ systems failure | MSOF - Multiple systems organ failure | MULTIORGAN FAILURE | MULTIPLE ORGAN FAILURE | Multi organ failure | Multi-Organ Failure | Multi-organ failure | Multiorgan failure | Multiple Organ Dysfunction Syndrome | Multiple Organ Failure | Multiple Organ Failure [Disease/Finding] | Multiple Organ Failures | Multiple System Failure | Multiple organ dysfunction syndrome | Multiple organ dysfunction syndrome (disorder) | Multiple organ failure | Multiple organ failure (disorder) | Multiple organ failure, NOS | Multiple organ systems failure | Multiple systems organ failure | Multisystem organ failure | Organ Dysfunction Syndrome, Multiple | Organ Failure, Multiple | failure multi organ | failure multi-organ | failure multiple organ | mods | mof | multi organ failure | multi-organ failure | multiorgan failure | multiple organ failure | multiple organ failure (diagnosis) | multiple organ system failure | multiple system organ failure | multisystem organ failure CSP2006:progressive condition involving the combined failure of the lungs, liver, kidney, and clotting mechanisms; usually occurs post-injury or post-operative. | MSH2017_2016_08_12:A progressive condition usually characterized by combined failure of several organs such as the lungs, liver, kidney, along with some clotting mechanisms, usually postinjury or postoperative. | NCI2016_02D:Complete impairment of two or more organs or organ systems. | NCI2016_CTCAE_1602D:A disorder characterized by progressive deterioration of the lungs, liver, kidney and clotting mechanisms. | NCI2016_FDA_1602D:A progressive condition usually characterized by combined failure of the lungs, liver, kidney, and clotting mechanisms. | NCI2016_NICHD_1602D:Complete impairment of two or more organs or organ systems. MSH2017_2016_08_12:D009102|SNOMEDCT_US_2016_09_01:190572000|SNOMEDCT_US_2016_09_01:238148004|SNOMEDCT_US_2016_09_01:57653000 C0016722 Frigidity Frigidity | Frigidity, NOS | [X]Frigidity | frigidity MSH2017_2016_08_12:D020018|SNOMEDCT_US_2016_09_01:112096004|SNOMEDCT_US_2016_09_01:154905005|SNOMEDCT_US_2016_09_01:192464008|SNOMEDCT_US_2016_09_01:268762007 C3494973 Benign occipital epilepsy of childhood - late onset, non-intractable Benign occipital epilepsy of childhood - late onset, non-intractable | Benign occipital epilepsy of childhood - late onset, non-refractory | Benign occipital epilepsy of childhood - late onset, non-refractory (disorder) | Gestaut syndrome, non-refractory SNOMEDCT_US_2016_09_01:431971000124106 C0699885 Carcinoma of bladder BLADDER CANCER, CARCINOMA | BLADDER CARCINOMA | Bladder Cancer | Bladder Carcinoma | Bladder carcinoma | Bladder carcinoma NOS | CARCINOMA BLADDER | CARCINOMA OF BLADDER | CARCINOMA URINARY BLADDER | Cancer of Bladder | Cancer of Urinary Bladder | Cancer of the Bladder | Cancer of the Urinary Bladder | Carcinoma bladder | Carcinoma of Bladder | Carcinoma of Urinary Bladder | Carcinoma of bladder | Carcinoma of bladder (disorder) | Carcinoma of the Bladder | Carcinoma of the Urinary Bladder | Carcinoma urinary bladder | Carcinoma;bladder | URINARY BLADDER CARCINOMA | Urinary Bladder Cancer | Urinary Bladder Carcinoma | Urinary bladder carcinoma | bladder cancer | bladder carcinoma | bladder carcinoma urinary | carcinoma bladder | carcinoma of bladder | carcinoma of bladder (diagnosis) | carcinoma of the bladder | urinary bladder carcinoma HPO2016_07_04:The presence of a carcinoma of the urinary bladder. [HPO:probinson] | NCI2016_02D:A carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas. | NCI2016_NCI-GLOSS_1602D:Cancer that forms in tissues of the bladder (the organ that stores urine). Most bladder cancers are transitional cell carcinomas (cancer that begins in cells that normally make up the inner lining of the bladder). Other types include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). The cells that form squamous cell carcinoma and adenocarcinoma develop in the inner lining of the bladder as a result of chronic irritation and inflammation. HPO2016_07_04:HP:0002862|OMIM2016_04_17:MTHU007842|SNOMEDCT_US_2016_09_01:154540000|SNOMEDCT_US_2016_09_01:255108000|SNOMEDCT_US_2016_09_01:269607003 C0349669 Malignant lymphoma of breast Malignant lymphoma of breast | Malignant lymphoma of breast (disorder) | malignant lymphoma of breast SNOMEDCT_US_2016_09_01:278052009 C4023397 Abnormal hair quantity Abnormal hair quantity HPO2016_07_04:An abnormal amount of hair. [DDD:cmoss] HPO2016_07_04:HP:0011362 C3281203 Cutaneous telangiectasia and cancer syndrome, familial CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL | FCTCS | TELANGIECTASIA, CUTANEOUS, AND CANCER SYNDROME, FAMILIAL OMIM2016_04_17:614564 C0020258 Hydrocephalus, normal pressure HYDROCEPHALUS NORMAL PRESSURE | HYDROCEPHALUS, NORMAL-PRESSURE | Hakim Syndrome | Hakim Syndromes | Hakim's Syndrome | Hakim's Syndromes | Hakims Syndrome | Hydrocephalus, Normal Pressure | Hydrocephalus, Normal Pressure [Disease/Finding] | Hydrocephalus, Normal-Pressure | Hydrocephalus, low pressure | Hydrocephalus, normal pressure | Low pressure hydrocephalus | Low pressure hydrocephalus (disorder) | NORMAL PRESSURE HYDROCEPHALUS | NORMAL PRESSURE HYDROCEPHALY | NPH | NPH (Normal Pressure Hydrocephalus) | NPH (normal pressure hydrocephalus) | NPH - Normal pressure hydrocephalus | NPHs (Normal Pressure Hydrocephalus) | Normal Pressure Hydrocephalus | Normal pressure hydrocephalus | Normal pressure hydrocephalus (disorder) | Normal pressure hydrocephalus NOS | Normal pressure hydrocephalus syndrome | Normal pressure hydrocephaly | Normal-pressure hydrocephalus | Nph | Syndrome, Hakim | Syndrome, Hakim's | Syndromes, Hakim | Syndromes, Hakim's | hakim syndrome | hydrocephalus normal nph pressure | hydrocephalus normal pressure | hydrocephalus pressure normal | hydrocephalus; normal-pressure | low pressure hydrocephalus | normal pressure hydrocephalus | normal pressure hydrocephalus (diagnosis) | normal pressure hydrocephalus (nph) | normal pressure hydrocephaly | normal-pressure hydrocephalus | normal-pressure; hydrocephalus | nph HPO2016_07_04:A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture. [eMedicine:1135286, HPO:probinson] | MSH2017_2016_08_12:A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3) HPO2016_07_04:HP:0002343|ICD10CM_2017:G91.2|MSH2017_2016_08_12:D006850|OMIM2016_04_17:236690|OMIM2016_04_17:MTHU013769|SNOMEDCT_US_2016_09_01:30753002|SNOMEDCT_US_2016_09_01:69663004 C0162636 Infection, spirurida Infection, Spirurida | Infections, Spirurida | Spirurida Infection | Spirurida Infections | Spirurida Infections [Disease/Finding] MSH2017_2016_08_12:Infections with nematodes of the order SPIRURIDA. MSH2017_2016_08_12:D017205 C0206157 Myopathies, nemaline Myopathies, Nemaline | Myopathies, Nemaline [Disease/Finding] | Myopathies, Rod | Myopathies, Rod-Body | Myopathy, Nemaline | Myopathy, Rod | Myopathy, Rod Body | Myopathy, Rod-Body | Nemaline Body Disease | Nemaline Myopathies | Nemaline Myopathy | Nemaline Rod Disease | Nemaline body disease | Nemaline myopathy | Nemaline myopathy (disorder) | Rod Body Disease | Rod Body Myopathy | Rod Myopathies | Rod Myopathy | Rod myopathy | Rod-Body Myopathies | Rod-Body Myopathy | Rod-body myopathy | myopathy; nemaline | myopathy; rods | nemaline body disease | nemaline body disease (diagnosis) | nemaline myopathy | nemaline; myopathy | rod myopathy | rods; myopathy MSH2017_2016_08_12:A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453) ICD10CM_2017:G71.2|MSH2017_2016_08_12:D017696|SNOMEDCT_US_2016_09_01:75072002 C0036996 Short rib-polydactyly syndrome Short Rib Polydactyly Syndrome | Short Rib-Polydactyly Syndrome | Short Rib-Polydactyly Syndrome [Disease/Finding] | Short Rib-Polydactyly Syndromes | Short rib polydactyly syndrome | Short rib polydactyly syndrome (disorder) MSH2017_2016_08_12:A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly. | NCI2016_02D:A rare congenital lethal syndrome characterized by the presence of extra fingers and toes and short ribs, the latter resulting in inability of the lungs to expand. The newborn dies shortly after birth. MSH2017_2016_08_12:D012779|SNOMEDCT_US_2016_09_01:205484001 C0477317 Oth primry thrombocytopenia Oth primry thrombocytopenia | Other primary thrombocytopenia | [X]Oth primry thrombocytopenia | [X]Other primary thrombocytopenia | [X]Other primary thrombocytopenia (disorder) ICD10CM_2017:D69.4|ICD10CM_2017:D69.49|ICD9CM_2014:287.39|SNOMEDCT_US_2016_09_01:191435001 C0855080 Mixed cellularity hodgkin's disease stage i Hodgkin's disease mixed cellularity stage I site unspecified | Mixed Cellularity Hodgkin's Disease Stage I | Mixed Cellularity Hodgkin's Lymphoma Stage I | Stage I Mixed Cellularity Classical Hodgkin Lymphoma | Stage I Mixed Cellularity Hodgkin Lymphoma | Stage I Mixed Cellularity Hodgkin's Disease | Stage I Mixed Cellularity Hodgkin's Lymphoma NCI2016_02D:Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (rare in Hodgkin lymphoma).- 2003 C1336477 Stage i carcinoma of renal pelvis Stage I Carcinoma of Renal Pelvis | Stage I Carcinoma of the Renal Pelvis | Stage I Renal Pelvis Carcinoma | Stage I Renal Pelvis Carcinoma AJCC v6 | Stage I Renal Pelvis Carcinoma AJCC v7 NCI2016_02D:Stage I includes: T1, M0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) C4225179 Cowden syndrome 7 COWDEN SYNDROME 7 | CWS7 OMIM2016_04_17:610512|OMIM2016_04_17:616858 C1843986 Flattening of the talar dome Flattening of the talar dome HPO2016_07_04:HP:0008144|OMIM2016_04_17:MTHU007510 C0038034 Beurmann disease BEURMANN DISEASE | Beurmann, De | De Beurmann | Infection by Sporothrix schenkii | SCHENCK DISEASE | SPOROTRICHOSIS | Schenck | Sporothric schenckii infection | Sporothrix schenckii infection | Sporotrichoses | Sporotrichosis | Sporotrichosis (disorder) | Sporotrichosis NOS | Sporotrichosis NOS (disorder) | Sporotrichosis [Disease/Finding] | Sporotrichosis, unspecified | [X]Sporotrichosis, unspecified | [X]Sporotrichosis, unspecified (disorder) | schenck disease | sporotrichosis | sporotrichosis (diagnosis) MSH2017_2016_08_12:The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound. ICD10CM_2017:B42|ICD10CM_2017:B42.9|ICD9CM_2014:117.1|MSH2017_2016_08_12:D013174|SNOMEDCT_US_2016_09_01:154408001|SNOMEDCT_US_2016_09_01:187078008|SNOMEDCT_US_2016_09_01:187488001|SNOMEDCT_US_2016_09_01:266218008|SNOMEDCT_US_2016_09_01:42094007 C0410189 Muscular dystrophy, emery-dreifuss Benign scapuloperoneal muscular dystrophy with early contractures | EMD - Emery-Dreifuss muscular dystrophy | Emery Dreifuss Muscular Dystrophy | Emery Dreifuss Syndrome | Emery-Dreifuss Muscular Dystrophy | Emery-Dreifuss Syndrome | Emery-Dreifuss Type Muscular Dystrophy | Emery-Dreifuss muscular dystrophy | Emery-Dreifuss muscular dystrophy (diagnosis) | Emery-Dreifuss muscular dystrophy (disorder) | Muscular Dystrophy, Emery Dreifuss | Muscular Dystrophy, Emery-Dreifuss | Muscular Dystrophy, Emery-Dreifuss Type | Muscular Dystrophy, Emery-Dreifuss [Disease/Finding] | dystrophy; muscular, Emery-Dreifuss | muscular; dystrophy, Emery-Dreifuss MSH2017_2016_08_12:A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations. | NCI2016_02D:An X-linked or autosomal dominant inherited muscular dystrophy. It is characterized by slowly progressive muscle weakness, atrial conduction defects, cardiomyopathy, and early contractures of the elbow, ankle and neck. MSH2017_2016_08_12:D020389|SNOMEDCT_US_2016_09_01:111508004|SNOMEDCT_US_2016_09_01:129620000|SNOMEDCT_US_2016_09_01:193233004 C0949313 Determinism, genetic Determinism, Genetic | Genetic Determinism MSH2017_2016_08_12:The theory that human CHARACTER and BEHAVIOR are shaped by the GENES that comprise the individual's GENOTYPE rather than by CULTURE; ENVIRONMENT; and individual choice. MSH2017_2016_08_12:D033141 C4280520 Enlargement of calvarial bones Enlargement of calvarial bones HPO2016_07_04:HP:0004490 C1857276 Trichohepatoenteric syndrome DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA | DIARRHEA, SYNDROMIC | Diarrhea, Fatal Infantile, with Trichorrhexis Nodosa | Diarrhea, Syndromic | Fatal infantile diarrhea with trichorrhexis nodosa | Fatal infantile diarrhoea with trichorrhexis nodosa | Intractable diarrhea with phenotypic anomalies | Intractable diarrhoea with phenotypic anomalies | Phenotypic diarrhea of infancy | Phenotypic diarrhoea of infancy | Syndromic diarrhea | Syndromic diarrhoea | THE SYNDROME | THES1 | TRICHOHEPATOENTERIC SYNDROME 1 | Tricho-hepato-enteric syndrome | Trichohepatoenteric Syndrome | Trichohepatoenteric syndrome | Trichohepatoenteric syndrome (disorder) MSH2017_2016_08_12:C565627|OMIM2016_04_17:222470|OMIM2016_04_17:614589|SNOMEDCT_US_2016_09_01:703406006 C1843477 Epidermolysis bullosa simplex superficialis EBSS | EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS | Epidermolysis Bullosa Simplex Superficialis MSH2017_2016_08_12:C564368|OMIM2016_04_17:607600 C0558844 Knee reflex absent Absent knee jerk reflex | Absent patellar reflexes | Knee reflex absent | Knee reflex absent (finding) | Patellar reflex absent HPO2016_07_04:Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. [HPO:probinson] HPO2016_07_04:HP:0006844|OMIM2016_04_17:MTHU005897|SNOMEDCT_US_2016_09_01:274817009 C0152416 Congenital web of larynx Congenital laryngeal web | Congenital web of larynx | Congenital web of larynx (diagnosis) | Congenital web of larynx (disorder) | Congenital web of larynx NOS | Congenital web of larynx NOS (disorder) | Congenital web of larynx unsp. | Congenital web of larynx, unspecified | Congenital web of larynx, unspecified (disorder) | Web of larynx | Web of larynx (& congenital) | Web of larynx (& congenital) (disorder) | Web of larynx NOS ICD10CM_2017:Q31.0|SNOMEDCT_US_2016_09_01:156935001|SNOMEDCT_US_2016_09_01:204528008|SNOMEDCT_US_2016_09_01:204531009|SNOMEDCT_US_2016_09_01:271022007|SNOMEDCT_US_2016_09_01:47070001 C0877322 Muscle tightness Muscle tightness | muscle tightness C4225285 Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism KFS4 | KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM OMIM2016_04_17:607295|OMIM2016_04_17:616549 C0026705 Mucopolysaccharidosis ii Deficiency of iduronate-2-sulfatase | Deficiency of iduronate-2-sulfatase (disorder) | Deficiency of iduronate-2-sulphatase | Gargoylism, Hunter Syndrome | HUNTER SYNDROME | Hunter Syndrome | Hunter Syndrome Gargoylism | Hunter disease | Hunter syndrome | Hunter's Syndrome | Hunter's syndrome | Hunter-Fraser syndrome | Hunter-McAlpine syndrome | Hunter; syndrome | Hunters Syndrome | IDS DEFICIENCY | IDURONATE 2-SULFATASE DEFICIENCY | Iduronate 2-sulfatase deficiency | Iduronate 2-sulphatase deficiency | Iduronate sulfatase deficiency | Iduronate sulphatase deficiency | MPS 2 - Mucopolysaccharidosis 2 | MPS II | MPS2 | MPSII - Mucopolysaccharidosis type II | MUCOPOLYSACCHARIDOSIS II | MUCOPOLYSACCHARIDOSIS, TYPE II | Mucopolysaccharidosis 2 | Mucopolysaccharidosis II | Mucopolysaccharidosis II [Disease/Finding] | Mucopolysaccharidosis Type 2 | Mucopolysaccharidosis Type II | Mucopolysaccharidosis type II | Mucopolysaccharidosis type II (disorder) | Mucopolysaccharidosis, MPS-II | Mucopolysaccharidosis, MPS-II (disorder) | Mucopolysaccharidosis, type II | Mucopolysaccharidosis, type II (MPS II) | SIDS DEFICIENCY | SULFOIDURONATE SULFATASE DEFICIENCY | Sulfo-iduronate sulfatase deficiency | Sulfoiduronidate sulfatase deficiency | Sulpho-iduronate sulfatase deficiency | Sulpho-iduronate sulphatase deficiency | Sulphoiduronidate sulphatase deficiency | Syndrome, Hunter | Syndrome, Hunter's | X-linked Hurler syndrome | disease hunters | diseases hunters | hunter disease | hunter syndrome | hunter's syndrome | hunters syndrome | iduronate sulfatase (IDS) deficiency | iduronate sulfatase deficiency | mucopolysaccharide storage disease II | mucopolysaccharidosis (MPS) II | mucopolysaccharidosis II | mucopolysaccharidosis ii | mucopolysaccharidosis type II | mucopolysaccharidosis type II: Hunter syndrome | mucopolysaccharidosis type II: Hunter syndrome (diagnosis) | mucopolysaccharidosis type ii | mucopolysaccharidosis; type II | sulfo-iduronate sulfatase (SIDS) deficiency | sulfo-iduronate sulfatase deficiency | syndrome; Hunter | type II; mucopolysaccharidosis CSP2006:lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase; this disease differs from muchopolysaccharidosis I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. | JABL99:A syndrome with variable manifestations exhibiting mainly microcephaly, characteristic facies, mental retardation, short stature, acral skeletal anomalies with occasional craniosynostosis and congenital heart defects. | JABL99:An inborn mucopolysaccharide metabolism disorder with iduronate-2-sulfatase deficiency. Clinical characteristics are similar to those in MPS I, except for the absence of corneal clouding and slower progression of the course of disease and central nervous system deterioration. Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life. Two types are recognized: A severe form (MPS IIA) which is characterized mainly by mental retardation and progressive physical deterioration and early death, and a mild form (MPS IIB) in which patients may survive into adulthood. MPS IIA usually occurs between 2 and 4 years of age with progressive deterioration, chronic diarrhea, recurrent ear infections, hearing impairment, communicating hydrocephalus with increased intracranial pressure, and death at about 10 and 15 years. Obstructive airway disease, cardiac valvular dysfunction, myocardial thickening, pulmonary hypertension, coronary disease, and myocardial infarction may be superimposed. MPS IIB is milder with preservation of intelligence. The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema. Death may occur in early adulthood, usually from airway obstruction or cardiac failure. | MSH2017_2016_08_12:Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15. | NCI2016_02D:An X-linked, inherited lysosomal storage disease caused by the deficiency of the enzyme iduronate sulfatase that is responsible for the degradation of mucopolysaccharides. It nearly always affects males and is characterized by the accumulation of mucopolysaccharides in various organs, resulting in mental dysfunction, enlarged abdomen, hearing loss, obstructive airway disease, heart disease, and hepatosplenomegaly. ICD10CM_2017:E76.1|MSH2017_2016_08_12:D016532|OMIM2016_04_17:300823|OMIM2016_04_17:309900|SNOMEDCT_US_2016_09_01:190936000|SNOMEDCT_US_2016_09_01:61413000|SNOMEDCT_US_2016_09_01:70737009 C0034372 Quadriplegia Bilateral Diplegia | Paralysis of all four limbs | QUADRAPLEGIA | QUADRIPLEGIA | QuaDriplegia | Quadraplegia | Quadriplegia | Quadriplegia (disorder) | Quadriplegia [Disease/Finding] | Quadriplegia, unspecified | Quadriplegias | TETRAPLEGIA | Tetraplegia | Tetraplegia, unspecified | Tetraplegias | limb; paralysis, all four | paralysis; limb, all four | quadraplegia | quadriplegia | quadriplegia (physical finding) | quadriplegia was seen | tetraplegia HPO2016_07_04:Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. [HPO:probinson] | MSH2017_2016_08_12:Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts. | NCI2016_02D:Paralysis of all four limbs. | NCI2016_FDA_1602D:Paralysis of all four limbs. | NCI2016_NICHD_1602D:Paralysis of all four limbs, or of the entire body below the neck. | PSY2004:Paralysis of both arms and both legs. HPO2016_07_04:HP:0002445|ICD10CM_2017:G82.5|ICD10CM_2017:G82.50|ICD9CM_2014:344.00|MSH2017_2016_08_12:D011782|OMIM2016_04_17:MTHU036518|OMIM2016_04_17:MTHU038030|SNOMEDCT_US_2016_09_01:11538006|SNOMEDCT_US_2016_09_01:155030003 C1306857 Hyperglobulinemia HYPERGLOBULINAEMIA | HYPERGLOBULINEMIA | Hyperglobulinaemia | Hyperglobulinemia | Hyperglobulinemia (disorder) | Hyperglobulinemia (finding) | Hyperglobulinemia -RETIRED- | Hyperglobulinemia NOS | Serum globulin concentration increased above normal | hyperglobulinaemia | hyperglobulinemia CSP2006:abnormally high globulin content of the blood. HPO2016_07_04:HP:0010702|ICD10CM_2017:R77.1|OMIM2016_04_17:MTHU015701|SNOMEDCT_US_2016_09_01:123778007|SNOMEDCT_US_2016_09_01:127398003|SNOMEDCT_US_2016_09_01:129646001 C0027656 Neoplasms, connective tissue Connective Tissue Neoplasm | Connective Tissue Neoplasms | Connective tissue neoplasm | Connective tissue neoplasm NOS | Connective tissues--Tumors | Neoplasm of connective tissues | Neoplasm of connective tissues (disorder) | Neoplasm, Connective Tissue | Neoplasms, Connective Tissue | Neoplasms, Connective Tissue [Disease/Finding] | Tumor of connective tissue | Tumour of connective tissue | cancers connective tissue | connective neoplasm tissue | connective tissue cancer | connective tissue neoplasm | connective tissue neoplasms | connective tissue tumor | connective tissue tumors | neoplasm of connective tissue | neoplasm of connective tissue (diagnosis) CSP2006:new abnormal connective tissue that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease; refers to neoplasms located in the connective tissue as well as those consisting of connective tissue. | MSH2017_2016_08_12:Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. MSH2017_2016_08_12:D009372|SNOMEDCT_US_2016_09_01:126598008|SNOMEDCT_US_2016_09_01:254821003 C0043253 Trauma blunt Blunt Injuries | Blunt Injury | Blunt force injury | Blunt force injury, NOS | Blunt injury | Blunt injury (disorder) | Blunt injury (morphologic abnormality) | Blunt injury, NOS | Blunt trauma | Injuries, Blunt | Injuries, Nonpenetrating | Injury, Blunt | Injury, Nonpenetrating | Nonpenetrating Injuries | Nonpenetrating Injury | Nonpenetrating Wound | Nonpenetrating Wounds | TRAUMA BLUNT | Wound, Nonpenetrating | Wounds, Nonpenetrating | Wounds, Nonpenetrating [Disease/Finding] | blunt force injury | blunt injury | blunt injury (diagnosis) | blunt trauma | injury blunt | trauma blunt MSH2017_2016_08_12:Injuries caused by impact with a blunt object where there is no penetration of the skin. MSH2017_2016_08_12:D014949|SNOMEDCT_US_2016_09_01:3821009|SNOMEDCT_US_2016_09_01:425359009 C0343206 Hypocomplementemic urticarial vasculitis Hypocomplementaemic urticarial vasculitis | Hypocomplementaemic vasculitis | Hypocomplementemic urticarial vasculitis | Hypocomplementemic urticarial vasculitis (disorder) | Hypocomplementemic vasculitis | hypocomplementemic vasculitis | hypocomplementemic; vasculitis | urticarial vasculitis | vasculitis urticarial | vasculitis; with hypocomplementemic ICD10CM_2017:M31.8|SNOMEDCT_US_2016_09_01:239945009 C4014970 Adams-oliver syndrome 5 ADAMS-OLIVER SYNDROME 5 | AOS5 OMIM2016_04_17:190198|OMIM2016_04_17:616028 C3275460 Mental retardation, x-linked, syndromic 17 MENTAL RETARDATION, X-LINKED, SYNDROMIC 17 | MENTAL RETARDATION, X-LINKED, WITH ALACRIMA AND ACHALASIA | MRXS17 OMIM2016_04_17:300858 C0154833 Disorder vascular retinal DISORDER VASCULAR RETINAL | Disorder vascular retinal | RETINAL VASCULAR DISORDER | RETINAL VASCULAR DISORDER NOS | Retinal Vascular Disorder | Retinal vascular disorder | Retinal vascular disorder (disorder) | Retinal vascular disorder NOS | VASCULAR DISORDER RETINAL | Vascular disorder retinal | retina circulation disorder | retinal vascular disorder (diagnosis) CSP2006:pathologic condition affecting the movement of blood through the vessels of the retina. | NCI2016_02D:Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage. | NCI2016_CTCAE_1602D:A disorder characterized by pathological retinal blood vessels that adversely affects vision. SNOMEDCT_US_2016_09_01:57534004 C0031049 Tuberculous pericarditis PERICARDITIS, TUBERCULOUS | Pericarditides, Tuberculous | Pericarditis tuberculous | Pericarditis, Tuberculous | Pericarditis, Tuberculous [Disease/Finding] | TUBERCULOUS PERICARDITIS | Tuberculosis of pericardium | Tuberculosis of pericardium (disorder) | Tuberculous Pericarditides | Tuberculous Pericarditis | Tuberculous pericarditis | pericardial tuberculosis | pericardium; tuberculous (etiology) | pericardium; tuberculous (manifestation) | tuberculosis of pericardium | tuberculosis of pericardium (diagnosis) | tuberculosis; pericardium (etiology) | tuberculosis; pericardium (manifestation) | tuberculous pericarditis | tuberculous pericarditis (diagnosis) MSH2017_2016_08_12:INFLAMMATION of the sac surrounding the heart (PERICARDIUM) due to MYCOBACTERIUM TUBERCULOSIS infection. Pericarditis can lead to swelling (PERICARDIAL EFFUSION), compression of the heart (CARDIAC TAMPONADE), and preventing normal beating of the heart. ICD10CM_2017:A18.84|MSH2017_2016_08_12:D010495|SNOMEDCT_US_2016_09_01:67256000 C0013011 Dominance subordination Dominance Subordination | Dominance-Subordination | Dominance-Subordinations MSH2017_2016_08_12:Relationship between individuals when one individual threatens or becomes aggressive and the other individual remains passive or attempts to escape. MSH2017_2016_08_12:D004291 C1836797 Combined oxidative phosphorylation deficiency 1 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 | COXPD1 | Combined Oxidative Phosphorylation Deficiency 1 | HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE | Hepatoencephalopathy, Early Fatal Progressive NCI2016_02D:A progressive, fatal autosomal recessive disorder. It results from a defect in the mitochondrial oxidative phosphorylation system. It manifests with growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. MSH2017_2016_08_12:C563797|OMIM2016_04_17:606639|OMIM2016_04_17:609060 C1336299 Mixed cellularity hodgkin's disease stage ii Mixed Cellularity Hodgkin's Disease Stage II | Mixed Cellularity Hodgkin's Lymphoma Stage II | Stage II Mixed Cellularity Classical Hodgkin Lymphoma | Stage II Mixed Cellularity Hodgkin Lymphoma | Stage II Mixed Cellularity Hodgkin's Disease | Stage II Mixed Cellularity Hodgkin's Lymphoma NCI2016_02D:Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE). - 2003 C4025287 Folate-unresponsive megaloblastic anemia Folate-unresponsive megaloblastic anemia HPO2016_07_04:A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia. [HPO:probinson] HPO2016_07_04:HP:0004826 C4280429 Underdevelopment of condylar neck of mandible Underdevelopment of condylar neck of mandible HPO2016_07_04:HP:0007627 C0406724 Tricho-dental dysplasia TRICHODENTAL DYSPLASIA | Tricho-dental dysplasia | Tricho-dental syndrome | Trichodental dysplasia | Trichodental syndrome | Trichodental syndrome (disorder) MSH2017_2016_08_12:C536551|OMIM2016_04_17:601453|SNOMEDCT_US_2016_09_01:277810000 C0341299 Collagenous sprue Collagenous Sprue | Collagenous Sprue [Disease/Finding] | Collagenous Sprues | Collagenous enteropathy | Collagenous enteropathy syndrome | Collagenous sprue | Non-gluten intolerance syndrome | Non-gluten sensitive enteropathy syndrome | Non-gluten sensitive enteropathy syndrome (disorder) | Sprue, Collagenous | Sprues, Collagenous | collagenous sprue | collagenous sprue (diagnosis) MSH2017_2016_08_12:A malabsorption syndrome characterized by collagenous mucosal lesions of the SMALL INTESTINE, atrophy of MICROVILLI, severe malabsorption, diarrhea, and MALNUTRITION often refractory to a gluten-free diet. | NCI2016_02D:A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal. MSH2017_2016_08_12:D064068|SNOMEDCT_US_2016_09_01:61738006 C3662068 Static encephalopathy Static encephalopathy | Static encephalopathy (disorder) SNOMEDCT_US_2016_09_01:47311000119103 C0235752 Port-wine stain Flammeus Nevus | Hemangioma flammeus | Naevus flammeus | Nevus Flammeus | Nevus flammeus | Nevus simplex | PORT WINE STAIN | PWS - Port-wine stain | Port Wine Birthmark | Port Wine Nevus | Port Wine Stain | Port Wine Stain of Skin | Port Wine Stain of the Skin | Port Wine Type Hemangioma | Port wine naevus | Port wine nevus | Port wine stain | Port wine stain of skin | Port-Wine Stain | Port-Wine Stain [Disease/Finding] | Port-Wine Stain of Skin | Port-Wine Stains | Port-wine birthmark | Port-wine naevus | Port-wine nevus | Port-wine stain | Port-wine stain (disorder) | Port-wine stain of skin | Port-wine stain of skin (disorder) | Port-wine stain of skin, NOS | Portwine Nevus | Portwine naevus | Portwine nevus | Portwine stain | Salmon Patch Nevus | Salmon patch naevus | Salmon patch nevus | Salmon patch nevus (disorder) | Stain, Port-Wine | Stains, Port-Wine | Stork bite | Unna's naevus | Unna's nevus | bites stork | congenital nevus flammeus | flammeus nevus | flammeus; nevus | naevus flammeus | nevus flammeus | nevus flammeus (diagnosis) | nevus flammeus (port wine nevus) | nevus flammeus (port wine nevus) (physical finding) | nevus; flammeus | nevus; portwine | port stain wine | port stains wine | port wine birthmark | port wine nevus | port wine nevus (diagnosis) | port wine stain | port wine; spot | port-wine birthmark | port-wine stain | portwine stain | portwine stains | spot; port wine | stain, portwine | stork bite HPO2016_07_04:A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. [HPO:sdoelken] | MSH2017_2016_08_12:A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema. In the past, port wine stains have frequently been termed capillary hemangiomas, which they are not; unfortunately this confusing practice persists: HEMANGIOMA, CAPILLARY is neoplastic, a port-wine stain is non-neoplastic. Port-wine stains vary in color from fairly pale pink to deep red or purple and in size from a few millimeters to many centimeters in diameter. The face is the most frequently affected site and they are most often unilateral. (From Rook et al., Textbook of Dermatology, 5th ed, p483) | NCI2016_02D:A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color. HPO2016_07_04:HP:0001052|ICD10CM_2017:Q82.5|MSH2017_2016_08_12:D019339|OMIM2016_04_17:MTHU009606|SNOMEDCT_US_2016_09_01:157013001|SNOMEDCT_US_2016_09_01:205560007|SNOMEDCT_US_2016_09_01:254211001|SNOMEDCT_US_2016_09_01:416377005|SNOMEDCT_US_2016_09_01:67668002 C1859461 Femoral bowing Bowed femora | Bowed femur | Bowed femura | Bowed femurs | Bowed thighbone | Femoral bowing HPO2016_07_04:Bowing (abnormal curvature) of the femur. [HPO:probinson] HPO2016_07_04:HP:0002980|OMIM2016_04_17:MTHU001500|OMIM2016_04_17:MTHU011799|OMIM2016_04_17:MTHU014170|OMIM2016_04_17:MTHU045402 C1848553 Homocystinuria, cbld type, variant 1 HOMOCYSTINURIA, cblD TYPE, VARIANT 1 | Homocystinuria, CblD Type, Variant 1 MSH2017_2016_08_12:C564743|OMIM2016_04_17:277410|OMIM2016_04_17:611935 C1847839 Episodic ataxia, type 3 ATAXIA, EPISODIC, WITH VERTIGO AND TINNITUS | Ataxia, Episodic, With Vertigo And Tinnitus | EA3 | EPISODIC ATAXIA, TYPE 3 | Episodic Ataxia, Type 3 MSH2017_2016_08_12:C564697|OMIM2016_04_17:606554 C0263978 Disorder of soft tissue Disorder of soft tissue | Disorder of soft tissue (disorder) | Disorder of soft tissue, NOS | Disorders of soft tissue, unspecified | Soft Tissue Disease | Soft Tissue Diseases | Soft Tissue Disorder | Soft Tissue Disorders | Soft tissue disorder | Soft tissue disorder NOS | Soft tissue disorder, unspecified | Soft tissue disorders | Soft tissue disorders NOS | Soft tissue disorders NOS (disorder) | Unspecified soft tissue disorder | Unspecified soft tissue disorder, site unspecified | disease (or disorder); soft tissue | soft tissue; disorder | unspecified disorder of soft tissue | unspecified disorder of soft tissue (diagnosis) NCI2016_02D:A non-neoplastic or neoplastic disorder that affects the soft tissue. ICD10CM_2017:M79.9|ICD9CM_2014:729.90|SNOMEDCT_US_2016_09_01:19660004|SNOMEDCT_US_2016_09_01:203139007|SNOMEDCT_US_2016_09_01:268015008 C0003490 Aortic arch syndrome AORTIC ARCH SYNDROME | Aortic Arch Syndrome | Aortic Arch Syndromes | Aortic Arch Syndromes [Disease/Finding] | Aortic arch syndrome | Syndrome, Aortic Arch | Syndromes, Aortic Arch | aortic arch syndrome | aortic arch; syndrome | syndrome; aortic arch MSH2017_2016_08_12:Conditions resulting from abnormalities in the arteries branching from the ASCENDING AORTA, the curved portion of the aorta. These syndromes are results of occlusion or abnormal blood flow to the head-neck or arm region leading to neurological defects and weakness in an arm. These syndromes are associated with vascular malformations; ATHEROSCLEROSIS; TRAUMA; and blood clots. | NCI2016_02D:A syndrome resulting from structural defects of the arteries that arise from the aortic arch. Signs and symptoms include weakness, dizziness, arm numbness, blurred vision and transient ischemic attacks. MSH2017_2016_08_12:D001015|SNOMEDCT_US_2016_09_01:359789008 C0015672 Fatigue Decrease in energy | Decreased energy | Energy decreased | Extreme fatigue | FATIGUE | FATIGUE EXTREME | Fatigue | Fatigue (finding) | Fatigue NOS | Fatigue [Disease/Finding] | Fatigue extreme | Fatigued | Feeling of total lack of energy | Lack (of);energy | Lack of Energy | Lack of energy | Lack of energy (finding) | Lacking in energy | Lacking in energy (finding) | Loss of energy | TIREDNESS | Tired out | Tiredness | Tiredness (finding) | WEARINESS | Weariness | [D]Fatigue | [D]Fatigue (context-dependent category) | [D]Fatigue (situation) | [D]Tiredness | [D]Tiredness (context-dependent category) | [D]Tiredness (situation) | decreased energy | energy loss | extreme fatigue | fatigue | fatigue (diagnosis) | fatigue extreme | fatigued | fatigues | fatiguing | lack of energy | lacking energy | loss of energy | rndx fatigue | rndx fatigue (diagnosis) | tatt | time tired | tired all the time | tired time | tiredness | weariness CCC2_5:Exhaustion that interferes with physical and mental activities | CSP2006:state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli. | HPO2016_07_04:A subjective feeling of tiredness characterized by a lack of energy and motivation. [HPO:probinson] | MEDLINEPLUS_20151021:Everyone feels tired now and then. Sometimes you may just want to stay in bed. But, after a good night's sleep, most people feel refreshed and ready to face a new day. If you continue to feel tired for weeks, it's time to see your doctor. He or she may be able to help you find out what's causing your fatigue and recommend ways to relieve it.
Fatigue itself is not a disease. Medical problems, treatments, and personal habits can add to fatigue. These include
One disorder that causes extreme fatigue is chronic fatigue syndrome (CFS). This fatigue is not the kind of tired feeling that goes away after you rest. Instead, it lasts a long time and limits your ability to do ordinary daily activities.
NIH: National Institute on Aging
| MSH2017_2016_08_12:The state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli. | NANDA-I_2015-2017:An overwhelming sustained sense of exhaustion and decreased capacity for physical and mental work at the usual level. | NCI2016_02D:Overall tiredness and lack of energy.(NICHD) | NCI2016_CDISC_1602D:Unusual tiredness and inability to perform usual activities. | NCI2016_CTCAE_1602D:A disorder characterized by a state of generalized weakness with a pronounced inability to summon sufficient energy to accomplish daily activities. | NCI2016_NCI-GLOSS_1602D:A condition marked by extreme tiredness and inability to function due lack of energy. Fatigue may be acute or chronic. | NCI2016_NICHD_1602D:Overall tiredness and lack of energy. HPO2016_07_04:HP:0012378|ICD10CM_2017:R53.83|MSH2017_2016_08_12:D005221|OMIM2016_04_17:MTHU010062|SNOMEDCT_US_2016_09_01:139126000|SNOMEDCT_US_2016_09_01:158169005|SNOMEDCT_US_2016_09_01:206767001|SNOMEDCT_US_2016_09_01:206771003|SNOMEDCT_US_2016_09_01:248274002|SNOMEDCT_US_2016_09_01:302758002|SNOMEDCT_US_2016_09_01:367392001|SNOMEDCT_US_2016_09_01:84229001 C0022672 Acute kidney tubular necrosis ACUTE TUBULAR NECROSIS | ATN - Acute tubular necrosis | Acute Kidney Tubular Necrosis | Acute Renal Failure with Tubular Necrosis | Acute Tubular Necrosis | Acute ischemic nephropathy | Acute renal failure with tubular necrosis | Acute renal tubular necrosis | Acute tubular necrosis | Acute tubular necrosis (disorder) | Acute tubular necrosis, NOS | Acute tubule necrosis | Kidney Tubular Necrosis, Acute | Kidney Tubular Necrosis, Acute [Disease/Finding] | LOWER NEPHRON NEPHROSIS | Lower Nephron Nephroses | Lower Nephron Nephrosis | Lower nephron nephrosis | NEPHROSIS LOWER NEPHRON | Nephron Nephroses, Lower | Nephron Nephrosis, Lower | Nephroses, Lower Nephron | Nephrosis lower nephron | Nephrosis, Lower Nephron | RENAL TUBULAR NECROSIS ACUTE | Renal tubular necrosis | Renal tubular necrosis acute | TUBULAR NECROSIS ACUTE | Tubulorrhexis | acute necrosis tubular | acute renal tubular necrosis | acute tubular necrosis | insufficiency; renal, acute, with necrosis, tubular | insufficiency; renal, with tubular necrosis (acute) | kidney; insufficiency, acute, with necrosis, tubular | kidney; insufficiency, with tubular necrosis (acute) | lower nephron nephrosis HPO2016_07_04:Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases. [HPO:probinson] | MSH2017_2016_08_12:Acute kidney failure resulting from destruction of EPITHELIAL CELLS of the KIDNEY TUBULES. It is commonly attributed to exposure to toxic agents or renal ISCHEMIA following severe TRAUMA. | NCI2016_02D:Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics. | NCI2016_NICHD_1602D:Damage to the renal tubular epithelial cells resulting in acute kidney injury. HPO2016_07_04:HP:0008682|ICD10CM_2017:N17.0|MSH2017_2016_08_12:D007683|SNOMEDCT_US_2016_09_01:197649009|SNOMEDCT_US_2016_09_01:23697004|SNOMEDCT_US_2016_09_01:35455006 C1392622 Chronic motor tics CHRONIC MOTOR TICS | Chronic Motor Tics | chronic; tic, motor | motor; tic, chronic | tic; chronic, motor | tic; motor, chronic MSH2017_2016_08_12:C563241|OMIM2016_04_17:137580 C1858328 Bile acid synthesis defect, congenital, 4 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 | Bile acid synthesis defect, congenital, 4 | CBAS4 | CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE CONVERSION OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID | Cbas4 | Cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid | TRIHYDROXYCOPROSTANIC ACID IN BILE | Trihydroxycoprostanic acid in bile MSH2017_2016_08_12:C535444|OMIM2016_04_17:214950|OMIM2016_04_17:604489 C0748616 Sellar tumor Neoplasm of Sella Turcica | Neoplasm of the Sella Turcica | SELLAR TUMOR | Sella Turcica Neoplasm | Sella Turcica Tumor | Sellar Neoplasm | Sellar Tumor | Tumor of Sella Turcica | Tumor of the Sella Turcica | location of neoplasm of sella turcica | location of neoplasm of sella turcica (diagnosis) | neoplasm in the sella turcica NCI2016_02D:A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma. C0162164 Congenital stenosis of pulmonary valve Cong.pulmonary stenosis NOS | Congenital pulmonary stenosis NOS | Congenital pulmonary stenosis NOS (disorder) | Congenital pulmonary valve stenosis | Congenital pulmonary valve stenosis (disorder) | Congenital pulmonic valve stenosis | Congenital stenosis of pulmonary valve | Congenital stenosis of pulmonary valve (disorder) | Congenital valvular pulmonic stenosis | PULMONIC STENOSIS CONGENITAL | PV - Congenital pulmonary valve stenosis | Pulmonary valve stenosis congenital | Pulmonic stenosis congenital | Stenosis of pulmonary valve, congenital | congenital pulmonary valve stenosis | congenital pulmonary valve stenosis (diagnosis) | congenital pulmonary valvular stenosis | deformity; pulmonary valve, stenosis | pulmonary valve; deformity, stenosis | pulmonary valve; stricture, congenital | pulmonary; stricture pulmonary valve, congenital | stenosis; pulmonary valve, congenital | stricture; pulmonary valve, congenital ICD10CM_2017:Q22.1|ICD9CM_2014:746.02|SNOMEDCT_US_2016_09_01:156919008|SNOMEDCT_US_2016_09_01:204347005|SNOMEDCT_US_2016_09_01:67278007 C0423082 Hypometric saccades Hypometric saccades | Hypometric saccades (disorder) HPO2016_07_04:Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. [HPO:probinson, pmid:572501] HPO2016_07_04:HP:0000571|OMIM2016_04_17:MTHU000630|SNOMEDCT_US_2016_09_01:246768008 C0752210 Dyskinesias, paroxysmal Dyskinesia, Paroxysmal | Dyskinesias, Paroxysmal | Paroxysmal Dyskinesia | Paroxysmal Dyskinesias | Paroxysmal dyskinesia | paroxysmal dyskinesia | paroxysmal dyskinesias HPO2016_07_04:Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. [HPO:probinson] HPO2016_07_04:HP:0007166|MSH2017_2016_08_12:D002819 C0036981 Gram negative shock Endotoxic Shock | Endotoxic septic shock | Endotoxic shock | Endotoxic shock (disorder) | Gram-negative septic shock | Gram-negative septic shock (diagnosis) | Gram-negative shock | Shock due to endotoxin | Shock, Endotoxic | Shock, endotoxic | [D]Endotoxic shock | [D]Endotoxic shock (context-dependent category) | [D]Endotoxic shock (situation) | [D]Gram-negative shock | [D]Gram-negative shock (context-dependent category) | [D]Gram-negative shock (situation) | endotoxic shock | endotoxic; shock | gram negative shock | gram-negative septic shock | shock; endotoxic MSH2017_2016_08_12:D012772|SNOMEDCT_US_2016_09_01:158356002|SNOMEDCT_US_2016_09_01:158357006|SNOMEDCT_US_2016_09_01:207028007|SNOMEDCT_US_2016_09_01:207029004|SNOMEDCT_US_2016_09_01:371769008|SNOMEDCT_US_2016_09_01:82042006 C0393929 Familial infantile myasthenia CMS Ia2, FORMERLY | CMS1A2, FORMERLY | CMS6 | CMSEA | CONGENITAL MYASTHENIC SYNDROME TYPE Ia2, FORMERLY | Congenital Myasthenic Syndrome Type Ia | Congenital myasthenic syndrome type 1a | Congenital myasthenic syndrome with episodic apnea | FIM - Familial infantile myasthenia | FIM, FORMERLY | FIMG2, FORMERLY | Familial infantile myasthenia | Familial infantile myasthenia (disorder) | MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2, FORMERLY | MYASTHENIA, FAMILIAL INFANTILE, FORMERLY | MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC | MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA | Myasthenia familial infantile | Myasthenia, Familial Infantile | Myasthenic Syndrome, Congenital, Associated With Episodic Apnea | Myasthenic syndrome congenital associated with episodic apnea | Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea MSH2017_2016_08_12:C535759|OMIM2016_04_17:118490|OMIM2016_04_17:254210|SNOMEDCT_US_2016_09_01:230670003 C1860191 Absent vertebral body mineralization Absent vertebral body mineralization HPO2016_07_04:A lack of bone mineralization of the vertebral bodies. [HPO:probinson] HPO2016_07_04:HP:0004605|OMIM2016_04_17:MTHU014837 C0157849 Infective arthritis nos, of the ankle and foot Infect.arthr.NOS-ankle/foot | Infective arthritis NOS, of the ankle and foot | Infective arthritis NOS, of the ankle and foot (disorder) | Unspecified infective arthritis involving ankle and foot | Unspecified infective arthritis, ankle and foot ICD9CM_2014:711.97|SNOMEDCT_US_2016_09_01:201599009 C2750180 Herpes simplex encephalitis, susceptibility to, 1 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 1 | HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1 | IIAE1 OMIM2016_04_17:608204|OMIM2016_04_17:610551 C2609414 Acute kidney injury Acute Kidney Injuries | Acute Kidney Injury | Acute Kidney Injury [Disease/Finding] | Acute Renal Injuries | Acute Renal Injury | Acute injury of kidney | Acute injury of kidney (disorder) | Acute kidney injury | Kidney Injuries, Acute | Kidney Injury, Acute | Renal Injuries, Acute | Renal Injury, Acute HPO2016_07_04:Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). [HPO:probinson] | MSH2017_2016_08_12:Abrupt reduction in kidney function. Acute kidney injury encompasses the entire spectrum of the syndrome including acute kidney failure; ACUTE KIDNEY TUBULAR NECROSIS; and other less severe conditions. HPO2016_07_04:HP:0001919|MSH2017_2016_08_12:D058186|SNOMEDCT_US_2016_09_01:14350001000004108 C3550875 Autism, susceptibility to, x-linked 6 AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 | AUTSX6 | EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY | TMLHED OMIM2016_04_17:300777|OMIM2016_04_17:300872 C0750233 Vertebra kyphosis VERTEBRA KYPHOSIS C0014804 Erythromelalgia ERYTHERMALGIA | ERYTHROMELALGIA | Erythermalgia | Erythermalgias | Erythralgia | Erythromelalgia | Erythromelalgia (disorder) | Erythromelalgia [Disease/Finding] | Erythromelalgias | GERHARDT DISEASE | MITCHELL DISEASE | Mitchell | Mitchell's disease | WEIR MITCHELL SYNDROME | Weir Mitchell's disease | Weir-Mitchell disease | erythermalgia | erythralgia | erythromelalgia | erythromelalgia (diagnosis) | erythromelalgia (red burning extremities) | erythromelalgia (red burning extremities) (physical finding) | gerhardt disease | mitchell disease | weir mitchell's disease MSH2017_2016_08_12:A peripheral arterial disease that is characterized by the triad of ERYTHEMA, burning PAIN, and increased SKIN TEMPERATURE of the extremities (or red, painful extremities). Erythromelalgia may be classified as primary or idiopathic, familial or non-familial. Secondary erythromelalgia is associated with other diseases, the most common being MYELOPROLIFERATIVE DISORDERS. | NCI2016_02D:A rare disorder characterized by periodic inflammation and blockage of the vessels of the extremities, resulting in skin redness, swelling, and burning pain in the affected sites. It may manifest as a primary disorder caused by mutations of the SCN9A gene or as a secondary disorder due to hematologic disorders or medication side effects. ICD10CM_2017:I73.81|ICD9CM_2014:443.82|MSH2017_2016_08_12:D004916|SNOMEDCT_US_2016_09_01:238777005|SNOMEDCT_US_2016_09_01:37151006 C0238033 Carcinoma of male breast BREAST, MALE, CANCER, CARCINOMA | BREAST, MALE, CARCINOMA | Breast Cancer, Male | Breast Carcinoma, Male | Breast cancer male | Breast cancer male NOS | Breast cancer, male | Ca breast - male | Ca breast - male (disorder) | Cancer of male breast | Cancer, Male Breast | Carcinoma of Male Breast | Carcinoma of male breast | Carcinoma of male breast (diagnosis) | Carcinoma of male breast (disorder) | Carcinoma of the Male Breast | Carcinoma, Male Breast | Carcinoma;breast;M | Male Breast Cancer | Male Breast Carcinoma | breast cancer carcinoma male | breast cancer, male | breast carcinoma male | breast neoplasm malignant male carcinoma | carcinoma of male breast | carcinoma of the breast | male breast cancer MEDLINEPLUS_20151021:Although breast cancer is much more common in women, men can get it too. It happens most often to men between the ages of 60 and 70.
Breast lumps usually aren't cancer. However, most men with breast cancer have lumps. Other breast symptoms can include
Risk factors for male breast cancer include exposure to radiation, a family history of breast cancer, and having high estrogen levels, which can happen with diseases like cirrhosis or Klinefelter's syndrome.
Treatment for male breast cancer is usually a mastectomy, which is surgery to remove the breast. Other treatments include radiation, chemotherapy and/or hormone therapy.
NIH: National Cancer Institute
| NCI2016_02D:A rare malignant tumor of the breast, affecting mostly older men. It accounts for less than 1% of all malignancies in men. The most common histologic type is invasive ductal carcinoma. Most patients are treated with mastectomy. -- 2004 | NCI2016_NCI-GLOSS_1602D:Cancer that forms in tissues of the breast in men. Most male breast cancer begins in cells lining the ducts. It is very rare and usually affects older men. MSH2017_2016_08_12:D018567|SNOMEDCT_US_2016_09_01:154520007|SNOMEDCT_US_2016_09_01:269594009|SNOMEDCT_US_2016_09_01:372095001|SNOMEDCT_US_2016_09_01:372096000 C1834002 Paternal anticipation bias Paternal anticipation bias HPO2016_07_04:HP:0003744|OMIM2016_04_17:MTHU016553 C2752013 Prenatal onset Prenatal onset HPO2016_07_04:HP:0003577|OMIM2016_04_17:MTHU024825 C1858719 Facial muscle weakness of muscles innervated by cn vii Facial muscle weakness of muscles innervated by CN VII HPO2016_07_04:HP:0010628|OMIM2016_04_17:MTHU038531 C3278811 Thumb aplasia Absent thumb | Absent thumbs | Aplasia of the thumb | Thumb aplasia HPO2016_07_04:Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. [HPO:probinson, pmid:19125433] HPO2016_07_04:HP:0009777|OMIM2016_04_17:MTHU034183 C0859975 Diarrhea at night Nocturnal diarrhea | Nocturnal diarrhoea | diarrhea at night | diarrhea at night (nocturnal) | diarrhea at night (symptom) | nocturnal diarrhea C0345996 Milium cyst MILIA | Milia | Milia (disorder) | Milial cyst | Milial cyst (disorder) | Milium | Milium (morphologic abnormality) | Milium Cyst | Milium cyst | Milk spot | Millium cyst | Subepidermal keratin cyst | cysts milium | milia | milia (physical finding) | milium HPO2016_07_04:Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. [HPO:probinson] | NCI2016_02D:Small (one to two mm), firm, white cysts on the skin.(NICHD) | NCI2016_NICHD_1602D:Small (one to two mm), firm, white cysts. HPO2016_07_04:HP:0001056|OMIM2016_04_17:MTHU010421|SNOMEDCT_US_2016_09_01:254679001|SNOMEDCT_US_2016_09_01:254683001|SNOMEDCT_US_2016_09_01:37719003 C0751552 Malignant neoplasm of thymus Cancer of Thymus | Cancer of the Thymus | Cancer, Thymic | Cancer, Thymus | Cancers, Thymic | Cancers, Thymus | Malignant Neoplasm of Thymus | Malignant Neoplasm of the Thymus | Malignant Thymus Neoplasm | Malignant Thymus Tumor | Malignant Tumor of Thymus | Malignant Tumor of the Thymus | Malignant neoplasm of thymus | Malignant tumor of thymus | Malignant tumor of thymus (disorder) | Malignant tumour of thymus | Thymic Cancer | Thymic Cancers | Thymus Cancer | Thymus Cancers | Thymus--Cancer | cancer thymus | malignant neoplasm of thymus | malignant neoplasm of thymus (diagnosis) | malignant thymus neoplasm | of thymus cancer | thymic cancer | thymus cancer MEDLINEPLUS_20151021:The thymus is a small organ in your upper chest, under your breastbone. Before birth and during childhood, the thymus helps the body make a type of white blood cell. These cells help protect you from infections.
Cancer of the thymus is rare. You are more likely to get it if you have other diseases such as myasthenia gravis, lupus or rheumatoid arthritis. Sometimes there are no symptoms. Other times, thymus cancer can cause
Doctors use a physical exam, imaging tests, and a biopsy to diagnose thymus cancer. The most common treatment is surgery to remove the tumor. Other options include radiation therapy, chemotherapy, and hormone therapy.
NIH: National Cancer Institute
| NCI2016_02D:A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites. ICD10CM_2017:C37|ICD9CM_2014:164.0|MSH2017_2016_08_12:D013953|SNOMEDCT_US_2016_09_01:363434003|SNOMEDCT_US_2016_09_01:94096009 C3715199 Renal-hepatic-pancreatic dysplasia 1 RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 | RHPD | RHPD1 OMIM2016_04_17:208540|OMIM2016_04_17:608002 C0494491 Mononeuropathies Mononeuropathies | Mononeuropathies [Disease/Finding] | Mononeuropathy | Mononeuropathy (disorder) | Mononeuropathy NOS | Mononeuropathy, unspecified | Single damaged nerve | mononeuropathies | mononeuropathy HPO2016_07_04:A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution. [HPO:probinson] | MSH2017_2016_08_12:Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ISCHEMIA; traumatic injury; compression; CONNECTIVE TISSUE DISEASES; CUMULATIVE TRAUMA DISORDERS; and other conditions. HPO2016_07_04:HP:0009831|ICD10CM_2017:G58.9|MSH2017_2016_08_12:D020422|SNOMEDCT_US_2016_09_01:128189008|SNOMEDCT_US_2016_09_01:304595001 C1867005 Scapuloperoneal syndrome, neurogenic, kaeser type KAESER SYNDROME | Kaeser Syndrome | SCAPULOPERONEAL SYNDROME, NEUROGENIC TYPE, OF KAESER | SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE | SCPNK | STARK-KAESER SYNDROME | Scapuloperoneal Syndrome, Neurogenic, Kaeser Type | Stark-Kaeser Syndrome MSH2017_2016_08_12:C566695|OMIM2016_04_17:125660|OMIM2016_04_17:181400 C0700110 Bone carcinoma Bone carcinoma | CARCINOMA BONE | Carcinoma bone | Carcinoma;bone(s) | Metastatic Carcinoma in the Bone | Metastatic Carcinoma to the Bone | bone carcinoma | carcinoma bone | carcinoma of the bone(s) NCI2016_02D:A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate. SNOMEDCT_US_2016_09_01:269568000 C2931119 Mehes syndrome Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome | Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | Mehes syndrome SNOMEDCT_US_2016_09_01:This syndrome is extremely rare and has characteristics of delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. To date, six cases have been reported in five families. Dysmorphic features include asymmetrical face, unilateral narrow palpebral fissure, divergent strabismus, long philtrum, high-arched palate, apparently low-set ears and transverse ear lobe creases on both sides. Delayed language development is constant but intellectual development can be normal. In one family, the transmission was compatible with either autosomal dominant or X-linked dominant inheritance. MSH2017_2016_08_12:C536146|SNOMEDCT_US_2016_09_01:716199000 C1334380 Lateral ventricle meningioma Lateral Ventricle Meningioma | Meningioma of Lateral Ventricle | Meningioma of the Lateral Ventricle NCI2016_02D:A meningioma that affects the lateral ventricle of the brain. C1846431 Smith-mccort dysplasia SMITH-MCCORT DYSPLASIA | Smith McCort dysplasia | Smith McCort dysplasia (disorder) | Smith-McCort Dysplasia SNOMEDCT_US_2016_09_01:A rare spondyloepimetaphyseal dysplasia with the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features and normal intelligence. MSH2017_2016_08_12:C564589|SNOMEDCT_US_2016_09_01:715862006 C1368910 Mature teratoma Mature Teratoma | Mature teratoma | TERATOMA MATURE CYSTIC | mature teratoma NCI2016_02D:A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues. | NCI2016_NCI-GLOSS_1602D:A type of benign (not cancer) germ cell tumor (type of tumor that begins in the cells that give rise to sperm or eggs) that often contains several different types of tissue such as hair, muscle, and bone. SNOMEDCT_US_2016_09_01:42717009|SNOMEDCT_US_2016_09_01:55818009 C0024205 Lymphadenitis Adenitis | Adenitis, NOS | Infection;lymph glands | Inflammation of lymph node | Inflammation of lymph node (finding) | Inflammation of the lymph nodes | LYMPHADENITIS | Lymph gland infection | Lymph node inflamed | Lymphadenitides | Lymphadenitis | Lymphadenitis (disorder) | Lymphadenitis NOS | Lymphadenitis NOS (disorder) | Lymphadenitis [Disease/Finding] | Lymphadenitis, NOS | adenitis | gland infection lymph | glands infection lymph | glands infections lymph | infection; lymph gland | inflammation; lymph node | lymph gland infection | lymph gland; infection | lymph glands infection | lymph node inflammation | lymph node; inflammation | lymphadenitis | lymphadenitis (diagnosis) HPO2016_07_04:Inflammation of a lymph node. [HPO:probinson] | MSH2017_2016_08_12:Inflammation of the lymph nodes. | NCI2016_02D:Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process. | NCI2016_CTCAE_1602D:A disorder characterized by an infectious process involving the lymph nodes. | NCI2016_NICHD_1602D:Inflammation of one or more lymph nodes. HPO2016_07_04:HP:0002840|ICD10CM_2017:I88.1|ICD10CM_2017:I88.9|MSH2017_2016_08_12:D008199|OMIM2016_04_17:MTHU037495|SNOMEDCT_US_2016_09_01:154838000|SNOMEDCT_US_2016_09_01:19471005|SNOMEDCT_US_2016_09_01:274737001|SNOMEDCT_US_2016_09_01:287688007 C1849955 Limited elbow movement Decreased elbow mobility | Limited elbow mobility | Limited elbow movement | Restricted elbow motion HPO2016_07_04:HP:0002996|OMIM2016_04_17:MTHU008426|OMIM2016_04_17:MTHU010172|OMIM2016_04_17:MTHU013712|OMIM2016_04_17:MTHU017453 C0349639 Juvenile myelomonocytic leukemia JCML | JCML - Juvenile chronic myeloid leukaemia | JCML - Juvenile chronic myeloid leukemia | JMML | JUVENILE MYELOMONOCYTIC LEUKEMIA | Juvenile Chronic Myelogenous Leukemia | Juvenile Chronic Myeloid Leukemia | Juvenile Myelomonocytic Leukemia | Juvenile Myelomonocytic Leukemias | Juvenile chronic myeloid leukaemia | Juvenile chronic myeloid leukemia | Juvenile chronic myeloid leukemia (diagnosis) | Juvenile chronic myeloid leukemia (disorder) | Juvenile chronic myelomonocytic leukaemia | Juvenile chronic myelomonocytic leukemia | Juvenile myelomonocytic leukaemia | Juvenile myelomonocytic leukemia | Juvenile myelomonocytic leukemia (disorder) | Juvenile myelomonocytic leukemia (morphologic abnormality) | Juvenile myelomonocytic leukemia NOS | LEUKEMIA, JUVENILE MYELOMONOCYTIC | Leukemia, Juvenile Myelomonocytic | Leukemia, Myelomonocytic, Juvenile | Leukemia, Myelomonocytic, Juvenile [Disease/Finding] | Myelomonocytic Leukemia, Juvenile | Myelomonocytic Leukemias, Juvenile | jmml | juvenile chronic myelogenous leukemia | juvenile chronic myeloid leukemia | juvenile myelomonocytic leukemia | juvenile myelomonocytic leukemia (JMML) | juvenile myelomonocytic leukemia (diagnosis) | leukemia juvenile myelomonocytic | myelomonocytic leukemia, juvenile HPO2016_07_04:Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor. [HPO:probinson, pmid:18954903] | MSH2017_2016_08_12:A leukemia affecting young children characterized by SPLENOMEGALY, enlarged lymph nodes, rashes, and hemorrhages. Traditionally classed as a myeloproliferative disease, it is now considered a mixed myeloproliferative-mylelodysplastic disorder. | NCI2016_02D:A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001) | NCI2016_NCI-GLOSS_1602D:A rare form of childhood leukemia in which cancer cells often spread into tissues such as the skin, lung, and intestines. HPO2016_07_04:HP:0012209|ICD10CM_2017:C93.3|ICD10CM_2017:C93.30|MSH2017_2016_08_12:D054429|OMIM2016_04_17:607785|OMIM2016_04_17:613113|SNOMEDCT_US_2016_09_01:128832006|SNOMEDCT_US_2016_09_01:277587001|SNOMEDCT_US_2016_09_01:445227008 C3553248 Mental retardation, autosomal dominant 15 MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 | MRD15 OMIM2016_04_17:601607|OMIM2016_04_17:614608 C1836543 Thick vermilion border Full lips | Increased volume of lip | Increased volume of lip vermillion | Plump lips | Prominent lip | Prominent lips | Thick lips | Thick vermilion border HPO2016_07_04:Increased width of the skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson] HPO2016_07_04:HP:0012471|OMIM2016_04_17:MTHU001062|OMIM2016_04_17:MTHU005109|OMIM2016_04_17:MTHU047040 C3650211 Atherosclerosis of bypass graft of extremities with rest pain atherosclerosis of bypass graft of extremities with rest pain | atherosclerosis of bypass graft of extremities with rest pain (diagnosis) C0796094 Blepharophimosis syndrome ohdo type Blepharophimosis syndrome Ohdo type | MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS, AND HYPOPLASTIC TEETH | Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth | Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | OHDO BLEPHAROPHIMOSIS SYNDROME | OHDO SYNDROME | Ohdo Blepharophimosis syndrome | Ohdo Madokoro Sonoda syndrome | Ohdo blepharophimosis syndrome | mental retardation, congential heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth | mental retardation, congential heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth (diagnosis) | mental retardation-congenital heart disease-blepharophimosis-blepharoptosis-hypoplastic teeth disease | mental retardation/heart disea/blepharophimosis/blepharoptosis/hypoplastic teeth JABL99:A syndrome of delayed development, blepharophimosis, blepharoptosis, dental hypoplasia, deafness, heart defect, cryptorchidism and scrotal hypoplasia in males, and other abnormalities. MSH2017_2016_08_12:C536232|OMIM2016_04_17:249620|SNOMEDCT_US_2016_09_01:412787009 C0005742 Blepharochalasis Blepharochalasis | Blepharochalasis (disorder) | Blepharochalasis [Ambiguous] | Dermatolysis palpebrarum | Fuchs' syndrome (2) | Fuchs' syndrome II | Saggy upper eyelid skin | blepharochalasis | blepharochalasis (diagnosis) | dermatolysis; palpebrarum | palpebrarum; dermatolysis HPO2016_07_04:Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. [PMID:3207663] HPO2016_07_04:HP:0010749|ICD10CM_2017:H02.3|ICD9CM_2014:374.34|OMIM2016_04_17:MTHU037413|SNOMEDCT_US_2016_09_01:193944001|SNOMEDCT_US_2016_09_01:193962005|SNOMEDCT_US_2016_09_01:267650003|SNOMEDCT_US_2016_09_01:47704002 C4023102 Elevated plasma citrulline Elevated plasma citrulline HPO2016_07_04:An increased concentration of citrulline in the blood. [HPO:probinson] HPO2016_07_04:HP:0011966 C1273957 Upper limb spasticity UPPER EXTREMITY SPASTICITY | Uncontrollable movement in upper arms | Upper limb spasticity | Upper limb spasticity (finding) HPO2016_07_04:HP:0006986|OMIM2016_04_17:MTHU000472|SNOMEDCT_US_2016_09_01:392772007|SNOMEDCT_US_2016_09_01:393726001|SNOMEDCT_US_2016_09_01:394680009 C1970705 Fragile hair Easily breakable hair | Fragile hair HPO2016_07_04:HP:0002299|OMIM2016_04_17:MTHU019995 C0376551 Infection, rubulavirus Disease caused by Rubulavirus | Disease caused by Rubulavirus (disorder) | Disease due to Rubulavirus | Disease due to Rubulavirus (disorder) | Infection, Rubulavirus | Infections, Rubulavirus | Rubulavirus Infection | Rubulavirus Infections | Rubulavirus Infections [Disease/Finding] MSH2017_2016_08_12:Infections with viruses of the genus RUBULAVIRUS, family PARAMYXOVIRIDAE. | MSHFRE2016:Infections dues 脿 des virus du genre Rubulavirus, famille des Paramyxoviridae. MSH2017_2016_08_12:D019351|SNOMEDCT_US_2016_09_01:407500007 C0021843 Intestinal obstruction BOWEL OBSTRUCTION | Bowel Obstruction | Bowel obstruction | INTESTINAL OBSTRUCTION | INTESTINE, OBSTRUCTION | IO - Intestinal obstruction | Intestinal Obstruction | Intestinal Obstruction [Disease/Finding] | Intestinal Obstructions | Intestinal blockage | Intestinal obstruction | Intestinal obstruction (disorder) | Intestinal obstruction NOS | Intestinal obstruction NOS (disorder) | Intestinal obstruction, NOS | Intestinal occlusion | Intestinal occlusion, NOS | Intestines--Obstructions | OBSTRUCTION BOWEL | OBSTRUCTION INTESTINAL | Obstruction bowel | Obstruction intestinal | Obstruction of intestine | Obstruction of intestine (disorder) | Obstruction of intestine NOS | Obstruction of intestine NOS (disorder) | Obstruction of intestine or colon | Obstruction, Intestinal | Obstruction;bowel | Obstruction;intestinal | Occlusion of colon or intestine NOS | Occlusion of intestine NOS | Occlusion of intestine NOS (disorder) | Occlusion of intestine or colon | Unspecified intestinal obstruction | bowel obstruction | bowel obstructions | bowel; obstruction | bowel; occlusion | bowels obstruction | intestinal obstruction | intestinal obstructions | intestinal occlusion | intestine obstruction | intestine; occlusion | intestines obstruction | obstruction bowel | obstruction intestinal | obstruction intestine | obstruction of intestine | obstruction; bowel | occlusion intestinal | occlusion; bowel | occlusion; intestine CSP2006:any impairment, arrest, or reversal of the normal flow of intestinal contents toward the anus. | HPO2016_07_04:Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. [HPO:probinson] | MEDLINEPLUS_20151021:An intestinal obstruction occurs when food or stool cannot move through the intestines. The obstruction can be complete or partial. There are many causes. The most common are adhesions, hernias, cancers, and certain medicines.
Symptoms include
A complete intestinal obstruction is a medical emergency. It often requires surgery.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
| MSH2017_2016_08_12:Any impairment, arrest, or reversal of the normal flow of INTESTINAL CONTENTS toward the ANAL CANAL. | NCI2016_02D:Blockage of the normal flow of the intestinal contents within the bowel. | NCI2016_NICHD_1602D:A blockage of the passage of the intestinal contents. HPO2016_07_04:HP:0005214|ICD10CM_2017:K56.60|ICD10CM_2017:K56.69|ICD9CM_2014:560.9|MSH2017_2016_08_12:D007415|OMIM2016_04_17:MTHU020587|OMIM2016_04_17:MTHU022262|SNOMEDCT_US_2016_09_01:155771002|SNOMEDCT_US_2016_09_01:155777003|SNOMEDCT_US_2016_09_01:197072007|SNOMEDCT_US_2016_09_01:197073002|SNOMEDCT_US_2016_09_01:197074008|SNOMEDCT_US_2016_09_01:197080000|SNOMEDCT_US_2016_09_01:266523009|SNOMEDCT_US_2016_09_01:81060008 C0544008 Chandler syndrome Chandler Syndrome | Chandler syndrome | Chandler syndrome (disorder) | Chandler's Syndrome | Chandler's syndrome | Chandler's syndrome (diagnosis) | Chandler's syndrome (disorder) | Chandlers Syndrome | Cornea, Dystrophy Endothelial | Corneal dystrophy, edema, glaucoma syndrome | Corneal endothelial dystrophy | Corneal endothelial dystrophy (disorder) | Corneas, Dystrophy Endothelial | Descemet's membrane corneal dystrophy | Dystrophy Endothelial Cornea | Dystrophy Endothelial Corneas | Dystrophy of corneal endothelium | Endothelial Cornea, Dystrophy | Endothelial Corneas, Dystrophy | Endothelial corneal dystrophy | Endothelial corneal dystrophy (disorder) | Endothelial corneal dystrophy (disorder) [Ambiguous] | Iris Atrophy with Corneal Edema and Glaucoma | Posterior membrane corneal dystrophy | Posterior membrane corneal dystrophy (disorder) | chandler syndrome | chandler's syndrome | chandlers syndrome | corneal endothelial dystrophy | endothelial corneal dystrophy | endothelial corneal dystrophy (diagnosis) | endothelial dystrophy of cornea | endothelial dystrophy of cornea (physical finding) SCTSPA_2016_04_30:Un trastorno ocular raro en el cual se produce proliferaci贸n del revestimiento endotelial del interior de la c贸rnea que causa presi贸n inusualmente elevada en el ojo, distorsi贸n del iris y edema de c贸rnea. | SNOMEDCT_US_2016_09_01:A rare disorder of the eye in which the endothelium lining the interior of the cornea proliferates causing unusually high pressure in the eye, distortion of the iris and corneal edema. | SNOMEDCT_US_2016_09_01:A rare disorder of the eye in which the endothelium lining the interior of the cornea proliferates causing unusually high pressure in the eye, distortion of the iris and corneal oedema. ICD10CM_2017:H18.51|ICD9CM_2014:371.57|MSH2017_2016_08_12:D057129|SNOMEDCT_US_2016_09_01:16949007|SNOMEDCT_US_2016_09_01:231935005|SNOMEDCT_US_2016_09_01:392481002|SNOMEDCT_US_2016_09_01:404632009|SNOMEDCT_US_2016_09_01:416960004 C0238197 Intestine, small, leiomyoma INTESTINE, SMALL, LEIOMYOMA | Leiomyoma of Small Bowel | Leiomyoma of Small Intestine | Leiomyoma of small intestine | Leiomyoma of small intestine (disorder) | Leiomyoma of the Small Bowel | Leiomyoma of the Small Intestine | Leiomyoma, Small Bowel | Leiomyoma, Small Intestine | Small Bowel Leiomyoma | Small Intestinal Leiomyoma | Small Intestine Leiomyoma | Small intestinal leiomyoma | leiomyoma of small intestine | leiomyoma of small intestine (diagnosis) NCI2016_02D:A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. SNOMEDCT_US_2016_09_01:424279009 C3888001 Hermansky-pudlak syndrome 3 HERMANSKY-PUDLAK SYNDROME 3 | HPS3 OMIM2016_04_17:606118|OMIM2016_04_17:614072 C1704430 Urinary schistosomiasis Schistosomiases, Urinary | Schistosomiases, Urogenital | Schistosomiasis due to Schistosoma haematobium [urinary schistosomiasis] | Schistosomiasis due to Schistosoma hematobium [urinary schistosomiasis] | Schistosomiasis, Urinary | Schistosomiasis, Urogenital | Urinary Schistosomiases | Urinary Schistosomiasis | Urinary schistosomiasis | Urinary schistosomiasis (diagnosis) | Urinary schistosomiasis (disorder) | Urogenital Schistosomiases | Urogenital Schistosomiasis | schistosomiasis urinary ICD10CM_2017:B65.0|MSH2017_2016_08_12:D012553|SNOMEDCT_US_2016_09_01:236706006 C0349540 Astrocytoma spinal cord Astrocytic tumor of spinal cord | Astrocytic tumour of spinal cord | Astrocytoma of Spinal Cord | Astrocytoma of spinal cord | Astrocytoma of spinal cord (disorder) | Astrocytoma of the Spinal Cord | Spinal Astrocytoma | Spinal Cord Astrocytoma | astrocytoma spinal cord | spinal cord astrocytoma NCI2016_02D:A low or high grade astrocytoma that arises in the spinal cord. SNOMEDCT_US_2016_09_01:254948003 C0085261 Proteus syndrome Elephant Man Disease | PROTEUS SYNDROME | Proteus Syndrome | Proteus Syndrome [Disease/Finding] | Proteus syndrome | Proteus syndrome (PS) | Proteus syndrome (disorder) | Wiedemann syndrome 2 | disease elephant man | disease elephant mans | diseases elephant mans | elephant man disease | proteiform syndrome | proteus syndrome JABL99:An overgrowth syndrome with a wide spectrum of abnormalities, including gigantism of the hands and/or feet, pigmented nevi with variable distribution, hemihypertrophy which may be limited to face, ears, shoulder girdle, thorax, and arms or involve the entire side of the body. Hypertrophic changes are generally associated with subcutaneous hamartomas, skull defects, occasional cardiomyopathy, early growth acceleration, and cystiform pulmonary abnormalities. The complete phenotype of this syndrome often evolves over a period of time, hence the name which denotes its polymorphous character. Named after Proteus, a Greek god who could change his shape at will. A localized form is referred to as the Fishman syndrome. | MSH2017_2016_08_12:Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics. | NCI2016_02D:A very rare congenital disorder characterized by the development of multiple cutaneous and subcutaneous lesions including lipomas, nevi, and vascular malformations, associated with partial gigantism or digital overgrowth. MSH2017_2016_08_12:D016715|OMIM2016_04_17:176920|SNOMEDCT_US_2016_09_01:23150001|SNOMEDCT_US_2016_09_01:394527003 C3553607 Mitochondrial pyruvate carrier deficiency MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY | MPYCD OMIM2016_04_17:614738|OMIM2016_04_17:614741 C0271561 Somatotropin deficiency GHD | GHD - Growth hormone deficiency | Growth hormone deficiency | Growth hormone deficiency (disorder) | Growth hormone deficiency, NOS | Growth hormone insufficiency | STH deficiency | Somatotropin Deficiency | Somatotropin deficiency | Somatotropin deficiency (disorder) | Somatotropin deficiency, NOS | deficiency growth hormone | deficiency; growth hormone | ghd | growth hormone deficiency | growth hormone insufficiency | growth hormone; deficiency | growth hormones insufficiency | hormone growth deficiency | somatotropin deficiency NCI2016_02D:Abnormally low levels of circulating somatotropin. OMIM2016_04_17:MTHU004822|SNOMEDCT_US_2016_09_01:154702001|SNOMEDCT_US_2016_09_01:302867007|SNOMEDCT_US_2016_09_01:397827003|SNOMEDCT_US_2016_09_01:44008002 C0268146 Glucose-6-phosphate transport defect GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT | GLYCOGEN STORAGE DISEASE Ib | GSD Ib | GSD1B | Glucose 6-phosphate transport defect | Glucose-6-Phosphate Transport Defect | Glucose-6-phosphate transport defect | Glucose-6-phosphate transport defect (disorder) | Glycogen Storage Disease IB | Glycogen Storage Disease Type I non-a | Glycogen Storage Disease Type Ib | Glycogen storage disease type IB | Glycogen storage disease type Ib | von gierke's disease (gsd type ib) | von gierke's disease (gsd type ib) (diagnosis) NCI2016_02D:Glycogen storage disease type I that is caused by mutations in the SLC37A4 gene. It is characterized by a deficiency of glucose-6-phosphate translocase. It may be associated with neutropenia resulting in recurrent bacterial infections, inflammatory bowel disease, gingivitis, periodontal disease, and mouth ulcers. MSH2017_2016_08_12:C562594|OMIM2016_04_17:232220|OMIM2016_04_17:602671|SNOMEDCT_US_2016_09_01:30102006 C0155734 Renal artery atherosclerosis Atherosclerosis of renal artery | Atherosclerosis of renal artery (disorder) | Atherosclerosis renal artery | RENAL ARTERY ATHEROSCLEROSIS | Renal artery atheroma | Renal artery atherosclerosis | Renal atherosclerosis | Renal atherosclerosis (disorder) | atheroma of renal artery | atheroma of renal artery (diagnosis) | atherosclerosis of renal artery | atherosclerosis of renal artery (diagnosis) ICD10CM_2017:I70.1|ICD9CM_2014:440.1|SNOMEDCT_US_2016_09_01:155416004|SNOMEDCT_US_2016_09_01:45281005 C1857550 11-beta-hydroxysteroid dehydrogenase, type ii 11-BETA-HSD | 11-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II | HSD11, KIDNEY AND PLACENTAL TYPE | HSD11, TYPE II | HSD11B2 | HSD11K OMIM2016_04_17:614232 C0267003 Oral abscess Abscess of mouth | Abscess of mouth, NOS | Abscess of oral soft tissue | Abscess of oral soft tissue (diagnosis) | Abscess of oral soft tissue (disorder) | Abscess of oral soft tissue unspecified | Abscess of oral soft tissue unspecified (disorder) | Abscess of oral tissue | Abscess of oral tissue (diagnosis) | Abscess of oral tissue (disorder) | Abscess of oral tissue, NOS | Abscess oral | Abscess oral soft tissue unsp. | Mouth abscess | ORAL ABSCESS | abscess mouth | abscesses mouth | abscesses oral | disorder of mouth abscess of oral soft tissue | disorder of mouth abscess of oral tissue | mouth abscess | mouth; abscess | of mouth abscess | oral abscess SNOMEDCT_US_2016_09_01:196541006|SNOMEDCT_US_2016_09_01:235026006|SNOMEDCT_US_2016_09_01:81546003 C0748299 Renal failure acute prerenal RENAL FAILURE ACUTE PRERENAL C0155223 Dacryoadenitis Dacryadenitis | Dacryoadenitides | Dacryoadenitis | Dacryoadenitis (disorder) | Dacryoadenitis NOS | Dacryoadenitis NOS (disorder) | Dacryoadenitis, NOS | Dacryoadenitis, unspecified | LACRIMAL GLAND INFLAMMATION | Unspecified dacryoadenitis | Unspecified dacryoadenitis (disorder) | dacryoadenitis | dacryoadenitis (diagnosis) | gland inflammation lacrimal | infection; lacrimal gland | inflammation; lacrimal gland | lacrimal gland; infection | lacrimal gland; inflammation ICD10CM_2017:H04.0|ICD10CM_2017:H04.00|ICD9CM_2014:375.0|ICD9CM_2014:375.00|MSH2017_2016_08_12:D003607|SNOMEDCT_US_2016_09_01:193971001|SNOMEDCT_US_2016_09_01:193973003|SNOMEDCT_US_2016_09_01:86927009 C2875157 Hemiplegic migraine, intractable Hemiplegic migraine, intractable | Intractable hemiplegic migraine | Intractable hemiplegic migraine (disorder) | Refractory hemiplegic migraine ICD10CM_2017:G43.41|SNOMEDCT_US_2016_09_01:124041000119102 C0153519 Malignant neoplasm of connective and other soft tissues, nos Malig neop connect/oth tissue | Malignant neoplasm of connective and other soft tissue | Malignant neoplasm of connective and other soft tissue (disorder) | Malignant neoplasm of connective and other soft tissue, site unspecified | Malignant neoplasm of connective and other soft tissues | Malignant neoplasm of connective and other soft tissues, NOS | Malignant neoplasm of other connective and soft tissue ICD10CM_2017:C49|ICD9CM_2014:171|ICD9CM_2014:171.9|SNOMEDCT_US_2016_09_01:187985009|SNOMEDCT_US_2016_09_01:93765001 C3150675 Chromosome 15q24 duplication syndrome CHROMOSOME 15q24 DUPLICATION SYNDROME OMIM2016_04_17:613406 C3641710 Ensat stage ii adrenal cortex carcinoma ENSAT Stage II Adrenal Cortex Carcinoma NCI2016_02D:Stage II includes: T2, N0, M0. Tumor greater than 5 cm. The tumor has not invaded surrounding tissues or organs and has not spread to lymph nodes or distant organs or tissues. (ENSAT 7th Ed, 2009) C1969680 Narrow, high iliac wings High and narrow iliac wings | High iliac wings | High, narrow iliac wings | Narrow, high iliac wings HPO2016_07_04:Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). [HPO:probinson] HPO2016_07_04:HP:0008808|OMIM2016_04_17:MTHU020254|OMIM2016_04_17:MTHU020446|OMIM2016_04_17:MTHU051331 C2919861 Medullary cystic kidney disease type 1 Medullary cystic kidney disease type 1 | Medullary cystic kidney disease type 1 (disorder) | medullary cystic disease - mckd1 | medullary cystic disease - mckd1 (diagnosis) SNOMEDCT_US_2016_09_01:444699000 C1864957 Deafness, autosomal dominant 53 (disorder) DEAFNESS, AUTOSOMAL DOMINANT 53 | DEAFNESS, AUTOSOMAL DOMINANT 53 (disorder) | DFNA53 | Deafness, Autosomal Dominant 53 MSH2017_2016_08_12:C566495|OMIM2016_04_17:609965 C3542022 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS | SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME | SOFT | SOFT SYNDROME OMIM2016_04_17:614783|OMIM2016_04_17:614813 C0149649 Cholesterol embolism ATHEROMATOUS EMBOLISM | Atheroembolism | Atheroembolisms | Atheromatous embolus | Atheromatous embolus (morphologic abnormality) | CHOLESTEROL EMBOLISM | Cholesterol Embolism | Cholesterol Embolisms | Cholesterol embolus | Embolism, Cholesterol | Embolism, Cholesterol [Disease/Finding] | Embolisms, Cholesterol | Embolus, atheromatous | Embolus, cholesterol | atheroembolism | atheroembolism (diagnosis) | cholesterol embolism | cholesterol embolus MSH2017_2016_08_12:Blocking of a blood vessel by CHOLESTEROL-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset. ICD10CM_2017:I75|ICD9CM_2014:445|MSH2017_2016_08_12:D017700|SNOMEDCT_US_2016_09_01:10690002 C0343376 B; paratyphoid fever B; paratyphoid fever | Paratyphoid B | Paratyphoid B fever | Paratyphoid B fever (disorder) | Paratyphoid Fever B | Paratyphoid fever B | Salmonella; paratyphoid fever B | paratyphoid fever type B | paratyphoid fever type B (diagnosis) | paratyphoid fever; B | type B paratyphoid fever ICD10CM_2017:A01.2|ICD9CM_2014:002.2|SNOMEDCT_US_2016_09_01:71085009 C0745730 Multiple lipomata LIPOMA MULTIPLE | Multiple lipomas | Multiple lipomata | Multiple lipomata (disorder) | lipoma multiple | lipomas multiple | multiple lipoma HPO2016_07_04:The presence of multiple lipomas (a type of benign tissue made of fatty tissue). [HPO:sdoelken] HPO2016_07_04:HP:0001012|SNOMEDCT_US_2016_09_01:404062002 C1840069 Sandal gap Sandal gap' between first and second toes | Gap between 1st and 2nd toes | Gap between first and second toe | Gap between first and second toes | Gap between the 1st and 2nd toes (sandal gap) | Increased space between first and second toes | Sandal gap | Sandal gap between first and second toes | Space between great toe and second toe | Wide space between 1st, 2nd toes | Wide space between first and second toes | Widely spaced 1st-2nd toes | Widely spaced first and second toe | Widely spaced first and second toes | Widened gap 1st-2nd toes | Widened gap first and second toe HPO2016_07_04:A widely spaced gap between the first toe (the great toe) and the second toe. [HPO:probinson, pmid:19125433] HPO2016_07_04:HP:0001852|OMIM2016_04_17:MTHU007037|OMIM2016_04_17:MTHU009969|OMIM2016_04_17:MTHU010725|OMIM2016_04_17:MTHU014458|OMIM2016_04_17:MTHU019380|OMIM2016_04_17:MTHU023264|OMIM2016_04_17:MTHU024093|OMIM2016_04_17:MTHU032275|OMIM2016_04_17:MTHU034117|OMIM2016_04_17:MTHU039259|OMIM2016_04_17:MTHU042842|OMIM2016_04_17:MTHU048574 C1861967 Basal ganglia calcification, idiopathic, childhood-onset BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET | Basal Ganglia Calcification, Idiopathic, Childhood-Onset | Bilateral striopallidodentate calcinosis, childhood onset | CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET | Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Childhood-Onset | Cerebral calcification, nonarteriosclerotic, childhood onset, idiopathic | IBGC, CHILDHOOD-ONSET | IBGC, childhood onset | Idiopathic basal ganglia calcification, childhood onset | STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET | Striopallidodentate Calcinosis, Bilateral, Childhood-Onset MSH2017_2016_08_12:C536276|OMIM2016_04_17:114100 C0311335 Grand mal status epilepticus Convulsive status epilepticus | Generalized Convulsive Status Epilepticus | Grand Mal Status Epilepticus | Grand mal status | Grand mal status (disorder) | Grand mal status epilepticus | Grand mal status, epileptic | Status Epilepticus, Generalized Convulsive | Status Epilepticus, Grand Mal | Status epilepticus grand mal | Status epilepticus;Grand mal | epilepsy; status, grand mal | epilepticus; status, grand mal | grand mal status epilepticus | grand mal status epilepticus (diagnosis) | grand mal; status | status; epileptic, grand mal | status; epilepticus, grand mal | status; grand mal ICD9CM_2014:345.3|MSH2017_2016_08_12:D013226|SNOMEDCT_US_2016_09_01:13973009|SNOMEDCT_US_2016_09_01:192998006 C1720189 Episodic ataxia Ataxia, episodic | Episodic Ataxia | Episodic ataxia | Episodic ataxia (disorder) | Intermittent cerebellar ataxia | Paroxysmal ataxia HPO2016_07_04:Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.n [HPO:probinson] HPO2016_07_04:HP:0002131|MSH2017_2016_08_12:C580065|OMIM2016_04_17:MTHU003966|OMIM2016_04_17:MTHU007047|OMIM2016_04_17:MTHU012528|SNOMEDCT_US_2016_09_01:421455009 C1857231 Lactase persistence LACTASE PERSISTENCE OMIM2016_04_17:223100|OMIM2016_04_17:601806 C4020855 Respiratory function loss Respiratory function loss HPO2016_07_04:HP:0002093 C1517113 Fallopian tube endometrioid neoplasm Fallopian Tube Endometrioid Neoplasm | Fallopian Tube Endometrioid Tumor NCI2016_02D:A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. C2751651 Chromosome 19q13.11 deletion syndrome CHROMOSOME 19q13.11 DELETION SYNDROME | Chromosome 19q13.11 Deletion Syndrome MSH2017_2016_08_12:C567810|OMIM2016_04_17:613026 C1845838 Macrothrombocytopenia, x-linked Macrothrombocytopenia, X-Linked MSH2017_2016_08_12:C564526 C1266141 Metanephric adenofibroma Metanephric Adenofibroma | Metanephric adenofibroma | Nephrogenic adenofibroma | Nephrogenic adenofibroma (morphologic abnormality) NCI2016_02D:A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells. SNOMEDCT_US_2016_09_01:128760004 C1851719 Beckwith-wiedemann syndrome chromosome region BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION | BWCR OMIM2016_04_17:130650 C0221365 Double ureter DOUBLE URETER | Double Ureter | Double ureter | Double ureter (disorder) | Double ureters | Duplex Collecting System | Duplex ureter | Duplicate ureter | Duplicated Ureter | Duplicated ureter | Duplicated ureters | Duplication of ureter | Ureter double | Ureter duplex | Ureteral duplication | double ureter | double ureters | double; ureter | duplex ureter | duplex ureters | duplication of ureter | duplication ureter | duplication ureters | duplications ureter | ureter duplication | ureter; double HPO2016_07_04:A complete duplication of the ureter such that the duplicated ureters with separate insertions into the bladder. [Eurenomics:fschaefer] | HPO2016_07_04:A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. [HPO:curators] | NCI2016_02D:A congenital abnormality characterized by the presence of two separate ureters draining a kidney. | NCI2016_NICHD_1602D:A condition in which there are two partial or complete ipsilateral ureters from a single kidney. HPO2016_07_04:HP:0000073|HPO2016_07_04:HP:0012572|ICD10CM_2017:Q62.5|OMIM2016_04_17:MTHU009008|OMIM2016_04_17:MTHU011722|OMIM2016_04_17:MTHU012469|OMIM2016_04_17:MTHU020750|OMIM2016_04_17:MTHU038557|OMIM2016_04_17:MTHU038927|SNOMEDCT_US_2016_09_01:49496001 C2981623 Stage 0 intrahepatic cholangiocarcinoma Stage 0 Intrahepatic Cholangiocarcinoma | Stage 0 Intrahepatic Cholangiocarcinoma AJCC v7 NCI2016_02D:Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ (intraductal tumor). N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.) C4225390 Bile acid synthesis defect, congenital, 5 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 | CBAS5 OMIM2016_04_17:616278 C0269120 Endometriosis, umbilicus Endometriosis of umbilicus | Endometriosis of umbilicus (disorder) | Endometriosis, umbilicus | umbilical endometriosis | umbilical endometriosis (diagnosis) SNOMEDCT_US_2016_09_01:17829005 C1859536 Bare lymphocyte syndrome, type ii, complementation group c BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP C | Bare Lymphocyte Syndrome, Type II, Complementation Group C MSH2017_2016_08_12:C565910|OMIM2016_04_17:209920|OMIM2016_04_17:601863 C0153467 Malignant tumor of peritoneum CA - Cancer of peritoneum | Cancer of Peritoneum | Cancer of peritoneum | Cancer of the Peritoneum | Mal neoplm/peritoneum,unspc | Malignant Peritoneal Neoplasm | Malignant neoplasm of peritoneum, unspecified | Malignant neoplasm of the peritoneum | Malignant neoplasm of the peritoneum, NOS | Malignant peritoneal neoplasm | Malignant peritoneal neoplasm NOS | Malignant tumor of peritoneum | Malignant tumor of peritoneum (disorder) | Malignant tumour of peritoneum | Peritoneal Cancer | Peritoneal Cavity Cancer | Peritoneal cancer | Peritoneal cavity cancer | Peritoneum--Cancer | [X]Mal neoplm/peritoneum,unspc | [X]Malignant neoplasm of peritoneum, unspecified | [X]Malignant neoplasm of peritoneum, unspecified (disorder) | cancer of peritoneum | cancer peritoneal | cancer peritoneum | malignant neoplasm of peritoneum | malignant neoplasm of peritoneum (diagnosis) | malignant tumor of peritoneum | peritoneal cancer | peritoneal cavity cancer | peritoneum cancer NCI2016_02D:A primary or metastatic malignant neoplasm involving the peritoneum. Representative examples include carcinoma and malignant mesothelioma. | NCI2016_NCI-GLOSS_1602D:Cancer of the tissue that lines the abdominal wall and covers organs in the abdomen. ICD10CM_2017:C48.2|ICD9CM_2014:158.9|SNOMEDCT_US_2016_09_01:190116002|SNOMEDCT_US_2016_09_01:363492001|SNOMEDCT_US_2016_09_01:94091004 C4025819 Abnormality of the hypothalamus-pituitary axis Abnormality of the hypothalamus-pituitary axis HPO2016_07_04:Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. [DDD:spark] HPO2016_07_04:HP:0000864 C0085662 Macrocytosis MACROCYTOSIS | Macrocytosis | macrocythemia | macrocytosis | macrocytosis (diagnosis) OMIM2016_04_17:MTHU038101 C1336318 Stage ii small cell carcinoma of lung Stage II Small Cell Carcinoma of Lung | Stage II Small Cell Carcinoma of the Lung | Stage II Small Cell Lung Cancer | Stage II Small Cell Lung Carcinoma | Stage II Small Cell Lung Carcinoma AJCC v7 NCI2016_02D:Stage II includes: IIA (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0) and IIB (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilater C3282896 Glandular papilloma Glandular Papilloma | Glandular papilloma SNOMEDCT_US_2016_09_01:86143001 C0010695 Cystocele CYSTOCELE | Cystocele | Cystocele NOS | Cystocele [Disease/Finding] | Cystocele, NOS | Cystocoele | Fallen Urinary Bladder | Prolapse of urinary bladder | Prolapse of urinary bladder (disorder) | Prolapse, Urinary Bladder | Urinary Bladder Prolapse | bladder cystocele | bladder hernia | cystocele | cystocele bladder | cystoceles | cystocoele | hernia bladder | vesical hernia MSH2017_2016_08_12:A HERNIA-like condition in which the weakened pelvic muscles cause the URINARY BLADDER to drop from its normal position. Fallen urinary bladder is more common in females with the bladder dropping into the VAGINA and less common in males with the bladder dropping into the SCROTUM. MSH2017_2016_08_12:D052858|SNOMEDCT_US_2016_09_01:155990004|SNOMEDCT_US_2016_09_01:266657007|SNOMEDCT_US_2016_09_01:40421008 C0746837 Nephropathy incipient NEPHROPATHY INCIPIENT C4054601 Localized adult undifferentiated high grade pleomorphic sarcoma Localized Adult Undifferentiated High Grade Pleomorphic Sarcoma | Localized Adult Undifferentiated High Grade Pleomorphic Sarcoma of Bone NCI2016_02D:An undifferentiated high grade pleomorphic sarcoma of bone that occurs in adulthood and has not spread to other anatomic sites. C0730317 Cystoid macular edema autosomal dominant Autosomal dominant cystoid macular edema | Autosomal dominant cystoid macular edema (diagnosis) | Autosomal dominant cystoid macular edema (disorder) | Autosomal dominant cystoid macular oedema | cystoid macular edema autosomal dominant SNOMEDCT_US_2016_09_01:312921000 C0265395 Anomaly of chromosome pair ring 1 syndrome Ring chromosome 1 syndrome | Ring chromosome 1 syndrome (diagnosis) | Ring chromosome 1 syndrome (disorder) | anomaly of chromosome pair ring 1 syndrome SNOMEDCT_US_2016_09_01:47017007 C2931121 Meier blumberg imahorn syndrome Idiopathic hypercalciuria with bilateral macular colobomata | Meier Blumberg Imahorn syndrome MSH2017_2016_08_12:C536148 C0859871 Nasal stinging Nasal stinging | Stinging of nose C1333590 Fallopian tube adenocarcinoma Adenocarcinoma of Fallopian Tube | Adenocarcinoma of the Fallopian Tube | Fallopian Tube Adenocarcinoma | adenocarcinoma of fallopian tube | adenocarcinoma of fallopian tube (diagnosis) NCI2016_02D:An adenocarcinoma that arises from the fallopian tube. Histologic subtypes include clear cell, endometrioid, serous, and mucinous adenocarcinoma. It spreads to adjacent organs, regional lymph nodes, and peritoneum. C1857288 Limited mobility of proximal interphalangeal joint Limited mobility of innermost hinge joint | Limited mobility of proximal interphalangeal joint HPO2016_07_04:HP:0006217|OMIM2016_04_17:MTHU013465 C4024924 Cerebral artery atherosclerosis Cerebral artery atherosclerosis | Plaque build-up in cerebral artery HPO2016_07_04:Atherosclerosis (HP:0002621) of a cerebral artery. [HPO:probinson] HPO2016_07_04:HP:0007201 C0271583 Acth deficiency, isolated ACTH DEFICIENCY, ISOLATED | ACTH Deficiency, Isolated | IAD | Isolated ACTH deficiency | Isolated adrenocorticotropic hormone deficiency | Isolated corticotropin deficiency | Isolated corticotropin deficiency (disorder) | Specific corticotropin deficiency MSH2017_2016_08_12:C562707|OMIM2016_04_17:201400|OMIM2016_04_17:604614|SNOMEDCT_US_2016_09_01:190482001|SNOMEDCT_US_2016_09_01:80599001 C4274029 Biliary atresia with splenic malformation syndrome BASM syndrome | Biliary atresia with splenic malformation syndrome | Biliary atresia with splenic malformation syndrome (disorder) SNOMEDCT_US_2016_09_01:The association of biliary atresia and splenic abnormalities. Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterised by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anaemia and often palpable spleen. | SNOMEDCT_US_2016_09_01:The association of biliary atresia and splenic abnormalities. Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen. SNOMEDCT_US_2016_09_01:717156002 C0268837 Cystitis glandularis Cystitis Glandularis | Cystitis glandularis | Cystitis glandularis (disorder) | Cystitis, glandularis | cystitis glandularis | glandularis cystitis | glandularis cystitis (diagnosis) NCI2016_02D:A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells. SNOMEDCT_US_2016_09_01:72815004 C0004153 Atherosclerosis AS - Atherosclerosis | ATHEROSCLEROSIS | ATHEROSCLEROTIC VASCULAR DISEASE | Atheromatosis | Atheromatosis, NOS | Atheroscleroses | Atherosclerosis | Atherosclerosis (& [NOS]) | Atherosclerosis (& [NOS]) (disorder) | Atherosclerosis (disorder) | Atherosclerosis (morphologic abnormality) | Atherosclerosis [Disease/Finding] | Atherosclerosis, NOS | Atherosclerotic Cardiovascular Disease | Atherosclerotic cardiovascular disease | Atherosclerotic cardiovascular disease, so described | VASCULAR DISEASE ATHEROSCLEROTIC | ascvd | atheromatosis | atheroscleroses | atherosclerosis | atherosclerosis (diagnosis) | atherosclerotic cardiovascular disease | atherosclerotic vascular disease CHV2011_02:deposition of cholesterol and lipid in the inner layer of the blood vessel | CSP2006:age, lifestyle, diet, and gene related degeneration of arteries due to deposition of lipoid plaques (atheromas) on inner arterial walls; main cause of coronary artery disease, a leading cause of death. | HPO2016_07_04:A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. [HPO:probinson] | MEDLINEPLUS_20151021:Atherosclerosis is a disease in which plaque builds up inside your arteries. Plaque is a sticky substance made up of fat, cholesterol, calcium, and other substances found in the blood. Over time, plaque hardens and narrows your arteries. That limits the flow of oxygen-rich blood to your body.
Atherosclerosis can lead to serious problems, including
Atherosclerosis usually doesn't cause symptoms until it severely narrows or totally blocks an artery. Many people don't know they have it until they have a medical emergency.
A physical exam, imaging, and other diagnostic tests can tell if you have it. Medicines can slow the progress of plaque buildup. Your | MSH2017_2016_08_12:A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. | NCI2016_02D:Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. HPO2016_07_04:HP:0002621|HPO2016_07_04:HP:0002635|ICD10CM_2017:I25.1|ICD10CM_2017:I70|ICD9CM_2014:440|MSH2017_2016_08_12:D050197|OMIM2016_04_17:MTHU036909|SNOMEDCT_US_2016_09_01:155382007|SNOMEDCT_US_2016_09_01:155414001|SNOMEDCT_US_2016_09_01:194848007|SNOMEDCT_US_2016_09_01:195251000|SNOMEDCT_US_2016_09_01:266318005|SNOMEDCT_US_2016_09_01:38716007 C0149513 Tracheitis acute Acute tracheitis | Acute tracheitis (disorder) | Acute tracheitis NOS | Acute tracheitis NOS (disorder) | Acute tracheitis, NOS | TRACHEITIS ACUTE | TRACHEITIS, ACUTE | Tracheitis (acute) NOS | Tracheitis;acute | acute tracheitis | acute tracheitis (diagnosis) ICD10CM_2017:J04.1|ICD9CM_2014:464.1|SNOMEDCT_US_2016_09_01:155507000|SNOMEDCT_US_2016_09_01:195693005|SNOMEDCT_US_2016_09_01:26650005 C1704436 Peripheral arterial diseases Arterial Disease, Peripheral | Arterial Diseases, Peripheral | Artery Disease, Peripheral | Artery Diseases, Peripheral | Disease, Peripheral Arterial | Disease, Peripheral Artery | Diseases, Peripheral Arterial | Diseases, Peripheral Artery | PAD | Peripheral Arterial Disease | Peripheral Arterial Disease [Disease/Finding] | Peripheral Arterial Diseases | Peripheral Arterial Disorder | Peripheral Artery Disease | Peripheral Artery Diseases | Peripheral arterial disease | Peripheral artery disease | peripheral arterial disease | peripheral arterial disease (diagnosis) MEDLINEPLUS_20151021:
Peripheral arterial disease (PAD) happens when there is a narrowing of the blood vessels outside of your heart. The cause of PAD is atherosclerosis. This happens when plaque builds up on the walls of the arteries that supply blood to the arms and legs. Plaque is a substance made up of fat and cholesterol. It causes the arteries to narrow or become blocked. This can reduce or stop blood flow, usually to the legs. If severe enough, blocked blood flow can cause tissue death and can sometimes lead to amputation of the foot or leg.
The main risk factor for PAD is smoking. Other risk factors include older age and diseases like diabetes, high blood cholesterol, high blood pressure, heart disease, and stroke.
Many people who have PAD don't have any symptoms. If you have symptoms, they may include
Doctors use a physical exam and special heart tests to diagnose congenital heart defects. They often find severe defects during pregnancy or soon after birth. Signs and symptoms of severe defects in newborns include
Many congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older.
Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how severe it is, and a child's age, size, and general health.
NIH: National Heart, Lung, and Blood Institute
| MSH2017_2016_08_12:Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life. | NCI2016_02D:An anatomical defect of a gross structure of the heart. HPO2016_07_04:HP:0001627|HPO2016_07_04:HP:0002564|ICD10CM_2017:Q24.9|ICD9CM_2014:746.9|MSH2017_2016_08_12:D006330|OMIM2016_04_17:140500|OMIM2016_04_17:234750|OMIM2016_04_17:MTHU008662|OMIM2016_04_17:MTHU013668|OMIM2016_04_17:MTHU021246|OMIM2016_04_17:MTHU024793|OMIM2016_04_17:MTHU033032|OMIM2016_04_17:MTHU036327|SNOMEDCT_US_2016_09_01:13213009|SNOMEDCT_US_2016_09_01:156911006|SNOMEDCT_US_2016_09_01:156926008|SNOMEDCT_US_2016_09_01:204405005|SNOMEDCT_US_2016_09_01:204413006|SNOMEDCT_US_2016_09_01:268315002|SNOMEDCT_US_2016_09_01:268318000 C3892049 Deafness, autosomal recessive 101 DEAFNESS, AUTOSOMAL RECESSIVE 101 | DFNB101 OMIM2016_04_17:615837 C1840310 Midline facial capillary hemangioma Midline facial capillary hemangioma HPO2016_07_04:HP:0007601|OMIM2016_04_17:MTHU017699 C0010035 Hereditary corneal dystrophy Corneal Dystrophies, Hereditary | Corneal Dystrophies, Hereditary [Disease/Finding] | Corneal Dystrophy, Hereditary | Dystrophies, Hereditary Corneal | Dystrophy, Hereditary Corneal | Hereditary Corneal Dystrophies | Hereditary Corneal Dystrophy | Hereditary corneal dystr.NOS | Hereditary corneal dystrophies | Hereditary corneal dystrophies (disorder) | Hereditary corneal dystrophy | Hereditary corneal dystrophy (disorder) | Hereditary corneal dystrophy NOS | Hereditary corneal dystrophy NOS (disorder) | Hereditary corneal dystrophy, NOS | Hereditary corneal dystrophy, unspecified | Unspecified hereditary corneal dystrophies MSH2017_2016_08_12:Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect. ICD10CM_2017:H18.5|ICD10CM_2017:H18.50|ICD9CM_2014:371.5|ICD9CM_2014:371.50|MSH2017_2016_08_12:D003317|SNOMEDCT_US_2016_09_01:193831005|SNOMEDCT_US_2016_09_01:193842001|SNOMEDCT_US_2016_09_01:77797009 C1843108 Short hands Hypoplastic hands | Short hands | Short palm | Short palms HPO2016_07_04:Short palm. [HPO:probinson, pmid:19125433] HPO2016_07_04:HP:0004279|OMIM2016_04_17:MTHU002799|OMIM2016_04_17:MTHU020816 C0545053 Advanced bone age Accelerated skeletal maturation | Advanced bone age | Advanced bone age (finding) | Advanced bone age (observable entity) | Early bone maturation | advanced bone age HPO2016_07_04:An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. [HPO:curators] HPO2016_07_04:HP:0005616|OMIM2016_04_17:MTHU001221|SNOMEDCT_US_2016_09_01:123982003|SNOMEDCT_US_2016_09_01:412798005 C0240997 Decreased serum ceruloplasmin Ceruloplasmin Serum Decreased | Decreased serum ceruloplasmin | SERUM CERULOPLASMIN DECREASED HPO2016_07_04:A kind of Abnormality of copper homeostasis related to a decreased concentration of ceruloplasmin in the blood. [HPO:probinson] HPO2016_07_04:HP:0010837|OMIM2016_04_17:MTHU036039 C4048303 Osteoclastic giant cell-rich tumor of bone OSTEOCLASTOMA, UNDETERMINED | Osteoclastic Giant Cell-Rich Tumor of Bone | Osteoclastic Giant Cell-Rich Tumor of the Bone NCI2016_02D:A benign, intermediate, or malignant bone tumor characterized by the presence of osteoclast-like giant cells. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint. | NCI2016_CDISC_1602D:A neoplasm of bone comprised of osteoclast-like giant cells and mononuclear cells, for which the malignancy status has not been established. C0013985 Emotional disturbances Disturbance, Emotional | Disturbance;emotional | Disturbances, Emotional | Emotional Disturbance | Emotional Disturbances | Emotional disturbance | Emotional disturbance NOS | disturbance emotional | emotional disturbance | emotional disturbance (diagnosis) | emotional disturbances MSH2017_2016_08_12:D000342 C3888209 Spastic paraplegia 45, autosomal recessive SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE | SPG45 OMIM2016_04_17:613162 C0751491 Juvenile sandhoff disease Juvenile Sandhoff Disease | Sandhoff Disease, Juvenile MSH2017_2016_08_12:D012497 C0206710 Basal cell neoplasm BASAL CELL NEOPLASMS | Basal Cell Neoplasm | Basal Cell Neoplasms | Basal Cell Tumor | Basal cell neoplasm | Basal cell neoplasm (morphologic abnormality) | Basal cell neoplasm (morphology) | Basal cell neoplasm NOS | Basal cell neoplasms | Basal cell tumor | Basal cell tumor (morphologic abnormality) | Basal cell tumor, uncertain whether benign or malignant | Basal cell tumor, uncertain whether benign or malignant (morphologic abnormality) | Basal cell tumour | Basal cell tumour, uncertain whether benign or malignant | Cell Neoplasm, Basal | Cell Neoplasms, Basal | Neoplasm, Basal Cell | Neoplasms, Basal Cell | Neoplasms, Basal Cell [Disease/Finding] | [M]Basal cell neoplasm NOS | [M]Basal cell neoplasm NOS (morphologic abnormality) | [M]Basal cell neoplasms | [M]Basal cell neoplasms (morphologic abnormality) MSH2017_2016_08_12:Neoplasms composed of cells from the deepest layer of the epidermis. The concept does not refer to neoplasms located in the stratum basale. | NCI2016_02D:A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas. MSH2017_2016_08_12:D018295|SNOMEDCT_US_2016_09_01:127570002|SNOMEDCT_US_2016_09_01:189572008|SNOMEDCT_US_2016_09_01:189574009|SNOMEDCT_US_2016_09_01:30649006 C1846367 Spinocerebellar ataxia 19 SCA19 | SPINOCEREBELLAR ATAXIA 19 | Spinocerebellar ataxia 19 MSH2017_2016_08_12:C537198|OMIM2016_04_17:605411|OMIM2016_04_17:607346 C1852548 Absent retinal pigment epithelium Absent retinal pigment epithelium HPO2016_07_04:HP:0007980|OMIM2016_04_17:MTHU018833 C0019555 Hip dislocation, congenital CDH | CDH - Congenital dislocation of the hip | CONGENITAL HIP DISLOCATION | Clicky hips | Congen. disloc. hip | Congen.dislocation hip NOS | Congenital Dislocation of Hip | Congenital Dysplasia Of The Hip | Congenital Hip Dislocation | Congenital Hip Dislocations | Congenital Hip Displacement | Congenital Hip Displacements | Congenital Hip Dysplasia | Congenital Hip Dysplasias | Congenital dislocation of hip | Congenital dislocation of hip (disorder) | Congenital dislocation of hip NOS | Congenital dislocation of hip NOS (disorder) | Congenital dislocation of hip, NOS | Congenital dislocation of hip, unspecified | Congenital dislocation of the hip | Congenital dislocation of the hips | Congenital dysplasia of the hip | Congenital dysplasia of the hip (disorder) | Congenital hip anomaly | Congenital hip dislocation | Congenital hip dislocations | Congenital hip dysplasia | Congenital hip dysplasia (disorder) | DDH | Developmental Dislocation of Hip | Developmental Dysplasia of Hip | Developmental dislocation of hip | Developmental displacement of the hip | Developmental dysplasia of the hip | Developmental hip dysplasia | Disloc. hip - congen. | Dislocated hip since birth | Dislocation Of Hip, Congenital | Dislocation of hip congenital | Dislocation, Congenital Hip | Dislocation;hip;congenital | Dislocations, Congenital Hip | Displacement, Congenital Hip | Displacements, Congenital Hip | Dysplasia of acetabulum | Dysplasia, Congenital Hip | Dysplasias, Congenital Hip | HIP DISLOCATION CONGENITAL | HIP DYSPLASIA CONGENITAL | HIP DYSPLASIA, CONGENITAL | HIP DYSPLASIA, DEVELOPMENTAL | Hip Dislocation, Congenital | Hip Dislocation, Congenital [Disease/Finding] | Hip Dislocations, Congenital | Hip Displacement, Congenital | Hip Displacements, Congenital | Hip Dysplasia, Congenital | Hip Dysplasias, Congenital | Hip dislocation, congenital | Hip dysplasia | Hip, Dislocation Of, Congenital | acetabulum dysplasia | acetabulum; dysplasia | congenital dislocation hip | congenital dislocation hips | congenital dislocation of hip | congenital dislocation of hip (diagnosis) | congenital dislocation of the hip | congenital dysplasia hip | congenital dysplasia of the hip | congenital hip dislocation | congenital hip dislocations | congenital hip dysplasia | congenital hip dysplasia (diagnosis) | developmental dislocation hip | developmental dislocation hips | developmental dislocation of hip | developmental dislocation of pelvis, hip, or femur | developmental dislocation of pelvis, hip, or femur (diagnosis) | developmental dysplasia of hip | developmental dysplasia of hip (diagnosis) | developmental hip dislocation | developmental hip displacement | dislocation; hip, congenital | dysplasia; acetabulum | hip congenital dislocation HPO2016_07_04:The presence of developmental dysplasia of the hip. [HPO:probinson] | MSH2017_2016_08_12:Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral head from the true acetabulum. This condition occurs in approximately 1 in 1000 live births and is more common in females than in males. | NCI2016_02D:A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation. | NCI2016_NICHD_1602D:A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation. HPO2016_07_04:HP:0001374|HPO2016_07_04:HP:0001385|ICD10CM_2017:Q65.2|ICD9CM_2014:754.3|MSH2017_2016_08_12:D006618|OMIM2016_04_17:142700|OMIM2016_04_17:MTHU001429|OMIM2016_04_17:MTHU007218|OMIM2016_04_17:MTHU012362|OMIM2016_04_17:MTHU017649|OMIM2016_04_17:MTHU019061|OMIM2016_04_17:MTHU051514|SNOMEDCT_US_2016_09_01:157001006|SNOMEDCT_US_2016_09_01:205050009|SNOMEDCT_US_2016_09_01:205061001|SNOMEDCT_US_2016_09_01:205337000|SNOMEDCT_US_2016_09_01:268347007|SNOMEDCT_US_2016_09_01:48334007|SNOMEDCT_US_2016_09_01:52781008 C0241521 Ulnar deviation of hand ULNAR HAND DEVIATION | Ulnar deviation deformity of hand | Ulnar deviation of hand | Ulnar deviation of hand (finding) | Ulnar deviation of hands | Ulnar deviation of the hand | Ulnar deviation of the hands HPO2016_07_04:Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). [HPO:probinson, pmid:19125433] HPO2016_07_04:HP:0009487|OMIM2016_04_17:MTHU005301|OMIM2016_04_17:MTHU013977|SNOMEDCT_US_2016_09_01:249757009 C0281479 Primary systemic amyloidosis Primary Systemic Amyloidosis | Systemic Amyloidosis | amyloidosis, primary systemic | primary systemic amyloidosis | systemic amyloidosis, primary NCI2016_02D:A plasma cell neoplasm that secretes an abnormal immunoglobulin, which deposits in various tissues and forms a beta-pleated sheet structure that binds Congo red dye with characteristic birefringence. The sites of involvement include heart, liver, kidney, gut, tongue, nerves, and bone. (WHO, 2001) C3151293 Cardiomyopathy, dilated, 1hh CARDIOMYOPATHY, DILATED, 1HH | CMD1HH OMIM2016_04_17:603883|OMIM2016_04_17:613881 C0744962 Hiv anemia HIV ANEMIA | HIV anemia | anemia HIV C4024952 Cavitation of the basal ganglia Cavitation of the basal ganglia HPO2016_07_04:The formation of small cavities in the tissue of the basal ganglia. [HPO:probinson, pmid:8516046] HPO2016_07_04:HP:0007007 C0751669 Machado-joseph disease type ii Machado Joseph Disease Type II | Machado-Joseph Disease Type II | Type II Machado Joseph Disease | Type II Machado-Joseph Disease MSH2017_2016_08_12:D017827 C0007440 Cathexis Cathexis MSH2017_2016_08_12:Attachment, conscious or unconscious, of emotional feeling and significance to an idea, object or most commonly a person. | PSY2004:Psychoanalytic term designating the attachment of intense emotions to a particular object, person, or oneself. MSH2017_2016_08_12:D002409 C0392557 Nuclear cataract Cataract nuclear | Cataract, nuclear | Lenticular sclerosis | NS - Nuclear sclerosis | Nuclear cataract | Nuclear cataract (disorder) | Nuclear cataract [Ambiguous] | Nuclear cataract, NOS | Nuclear sclerosis | Yellowish cloudy center of lens | cataract nuclear | cataracts nuclear | lenticular sclerosis | nuclear cataract | nuclear cataract (physical finding) | nuclear sclerosis | sclerosis nuclear HPO2016_07_04:A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. [HPO:sdoelken] | SCTSPA_2016_04_30:Catarata que afecta al n煤cleo del cristalino | SNOMEDCT_US_2016_09_01:A cataract involving the nucleus of the lens HPO2016_07_04:HP:0100018|OMIM2016_04_17:MTHU036538|OMIM2016_04_17:MTHU041461|SNOMEDCT_US_2016_09_01:193578002|SNOMEDCT_US_2016_09_01:53889007 C3665628 Hypomineralization of enamel of tooth Decreased enamel mineralisation | Enamel hypomineralisation | Enamel hypomineralization | Enamel hypomineralization (disorder) | Hypocalcification of enamel | Hypocalcification of enamel of teeth | Hypocalcification of enamel of teeth (disorder) | Hypocalcification of enamel of tooth | Hypomineralisation of enamel of tooth | Hypomineralization of enamel | Hypomineralization of enamel of tooth | Mottled tooth enamel | Poorly mineralized tooth enamel HPO2016_07_04:A decreased amount of enamel mineralization. [HPO:probinson] HPO2016_07_04:HP:0006285|OMIM2016_04_17:MTHU002147|OMIM2016_04_17:MTHU007496|SNOMEDCT_US_2016_09_01:109465007|SNOMEDCT_US_2016_09_01:109487003|SNOMEDCT_US_2016_09_01:84752003 C1833229 Cataract, congenital zonular, with sutural opacities CATARACT 10, MULTIPLE TYPES | CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES | CCZS | CTRCT10 | Cataract, Congenital Zonular, with Sutural Opacities MSH2017_2016_08_12:C563435|OMIM2016_04_17:123610|OMIM2016_04_17:600881 C1856922 Limited elbow flexion Limited elbow flexion HPO2016_07_04:HP:0006376|OMIM2016_04_17:MTHU013104 C0544886 Somatic mutation Mutation, somatic | Somatic Mutation | Somatic Mutation Abnormality | Somatic mutation | Somatic mutation (finding) | somatic mutation | somatic mutations NCI2016_02D:Any mutation with an origin in cells that are not destined to become gametes. As a consequence, such mutations are not transmitted to progeny, though they will be transmitted during any mitosis within the individual. Somatic mutations may contribute to a broad variety of pathologies including cancer. | NCI2016_NCI-GLOSS_1602D:An alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases. HPO2016_07_04:HP:0001428|OMIM2016_04_17:MTHU002860|SNOMEDCT_US_2016_09_01:124975008 C0426433 Pinched nasal tip Narrow nasal tip | Narrow tip of nose | Nasal tip, narrow | Nasal tip, pinched | Pinched nasal tip | Pinched nasal tip (finding) | Pinched tip of nose | Thin nasal tip | Thin tip of nose HPO2016_07_04:Decrease in width of the nasal tip. [pmid:19152422] HPO2016_07_04:HP:0011832|SNOMEDCT_US_2016_09_01:249331008 C1856118 Prominent nasal tip Large nasal tip | Large tip of nose | Prominent nasal tip | Prominent tip of nose | Pronounced nasal tip | Pronounced tip of nose HPO2016_07_04:HP:0005274|OMIM2016_04_17:MTHU012453 C0395919 Vestibular meniere syndrome Vestibular Meniere syndrome | Vestibular Meniere syndrome (disorder) | Vestibular M茅ni猫re syndrome | Vestibular M茅ni猫re syndrome (disorder) SNOMEDCT_US_2016_09_01:232283001 C0019209 Hepatomegaly Enlarged Liver | Enlarged liver | Enlarged;liver | Enlargement of liver | HEPATOMEGALY | Hepatomegaly | Hepatomegaly NOS | Hepatomegaly [Disease/Finding] | LARGE LIVER | LIVER ENLARGEMENT | Large liver | Large liver (disorder) | Liver enlarged | Liver enlargement | Liver, Enlarged | [D]Hepatomegaly | [D]Hepatomegaly (context-dependent category) | [D]Hepatomegaly (situation) | [D]Hepatomegaly NOS | [D]Hepatomegaly NOS (context-dependent category) | [D]Hepatomegaly NOS (situation) | [D]Liver enlargement | [D]Liver enlargement (context-dependent category) | [D]Liver enlargement (situation) | enlarged liver | enlarged livers | enlargement of liver | enlargement; liver | hepatic enlargement | hepatomegaly | hepatomegaly (physical finding) | large liver | liver enlargement | liver; enlargement HPO2016_07_04:Abnormally increased size of the liver. [HPO:probinson] | MSH2017_2016_08_12:Enlargement of the liver. | NCI2016_02D:Abnormal enlargement of the liver. | NCI2016_NCI-GLOSS_1602D:Enlarged liver. HPO2016_07_04:HP:0002240|ICD10CM_2017:R16.0|ICD9CM_2014:789.1|MSH2017_2016_08_12:D006529|OMIM2016_04_17:MTHU036371|OMIM2016_04_17:MTHU039744|OMIM2016_04_17:MTHU050941|SNOMEDCT_US_2016_09_01:158513008|SNOMEDCT_US_2016_09_01:158514002|SNOMEDCT_US_2016_09_01:158515001|SNOMEDCT_US_2016_09_01:207231001|SNOMEDCT_US_2016_09_01:207232008|SNOMEDCT_US_2016_09_01:207233003|SNOMEDCT_US_2016_09_01:80515008 C0018852 Heavy chain disease BALLARD DISEASE | HCD | HEAVY CHAIN DISEASE | Heavy Chain Disease | Heavy Chain Disease [Disease/Finding] | Heavy Chain Diseases | Heavy chain disease | Heavy chain disease (disorder) | Heavy chain disease (morphologic abnormality) | Heavy chain disease, NOS | SELIGMANN DISEASE | heavy chain disease | heavy chain disease (diagnosis) CSP2006:disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine; amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains; the defect arises through faulty coupling of the variable (V) and constant (C) region genes. | MSH2017_2016_08_12:A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes. | NCI2016_02D:A group of rare disorders of immunoglobulin synthesis associated with B-cell proliferative disorders. ICD10CM_2017:C88.2|MSH2017_2016_08_12:D006362|SNOMEDCT_US_2016_09_01:6381009|SNOMEDCT_US_2016_09_01:68979007 C3150969 Microphthalmia, isolated 7 MCOP7 | MICROPHTHALMIA, ISOLATED 7 OMIM2016_04_17:606522|OMIM2016_04_17:613704 C0019189 Hepatitis, chronic CH - Chronic hepatitis | CHRONIC HEPATITIS | Chronic Hepatitis | Chronic hepatitis | Chronic hepatitis (disorder) | Chronic hepatitis NOS | Chronic hepatitis NOS (disorder) | Chronic hepatitis unspecified | Chronic hepatitis unspecified (disorder) | Chronic hepatitis, NOS | Chronic hepatitis, unspecified | Chronic liver inflammation | HEPATITIS CHRONIC | Hepatitis - chronic | Hepatitis chronic NOS | Hepatitis, Chronic | Hepatitis, Chronic [Disease/Finding] | Hepatitis, chronic | chronic hepatitis | chronic hepatitis (diagnosis) | chronic; hepatitis | hepatitis chronic | hepatitis; chronic MSH2017_2016_08_12:INFLAMMATION of the LIVER with ongoing hepatocellular injury for 6 months or more, characterized by NECROSIS of HEPATOCYTES and inflammatory cell (LEUKOCYTES) infiltration. Chronic hepatitis can be caused by viruses, medications, autoimmune diseases, and other unknown factors. | NCI2016_02D:An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders. HPO2016_07_04:HP:0200123|ICD10CM_2017:K73.9|ICD9CM_2014:571.4|ICD9CM_2014:571.40|MSH2017_2016_08_12:D006521|OMIM2016_04_17:MTHU038293|OMIM2016_04_17:MTHU046633|SNOMEDCT_US_2016_09_01:155813004|SNOMEDCT_US_2016_09_01:197288001|SNOMEDCT_US_2016_09_01:197289009|SNOMEDCT_US_2016_09_01:266539002|SNOMEDCT_US_2016_09_01:76783007 C4025576 Emg: myotonic runs EMG: myotonic runs HPO2016_07_04:Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG). [HPO:probinson] HPO2016_07_04:HP:0003730 C1865342 Febrile convulsions, familial, 2 (disorder) CONVULSIONS, FAMILIAL FEBRILE, 2 | Convulsions, Familial Febrile, 2 | FEB2 | FEBRILE CONVULSIONS, FAMILIAL, 2 (disorder) | FEBRILE SEIZURES, FAMILIAL, 2 | Febrile Convulsions, Familial, 2 | Seizures, Familial Febrile, 2 MSH2017_2016_08_12:C566541|OMIM2016_04_17:602477 C0004377 Automatism AUTOMATISM | Automatism | Automatism (finding) | Automatisms | automatic behavior | automatic behavior (symptom) | automatism | automatism (diagnosis) | automatisms MSH2017_2016_08_12:Automatic, mechanical, and apparently undirected behavior which is outside of conscious control. | PSY2004:An act or movement performed without conscious control. MSH2017_2016_08_12:D001332|OMIM2016_04_17:MTHU030328|SNOMEDCT_US_2016_09_01:52669001 C0267839 Hepatic amyloidosis Amyloidosis of liver | Amyloidosis, hepatic | Hepatic amyloidosis | Hepatic amyloidosis (disorder) | amyloid infiltration of liver | amyloid infiltration of liver (diagnosis) | amyloidosis liver | hepatic amyloidosis HPO2016_07_04:A form of amyloidosis that affects the liver. [HPO:probinson] HPO2016_07_04:HP:0012280|OMIM2016_04_17:MTHU024182|SNOMEDCT_US_2016_09_01:9551004 C0266036 Macrodontia Increased width of tooth | Large teeth | Macrodontia | Macrodontia (disorder) | Macrodontism | Megadontia | Megalodontia | macrodontia | macrodontia (diagnosis) HPO2016_07_04:Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. [HPO:ibailleulforestier, pmid:19125428] HPO2016_07_04:HP:0001572|ICD10CM_2017:K00.2|OMIM2016_04_17:MTHU036887|OMIM2016_04_17:MTHU037285|SNOMEDCT_US_2016_09_01:196275008|SNOMEDCT_US_2016_09_01:71485000 C1847584 Distal sensory impairment Decreased distal sensation | Distal sensation loss | Distal sensory impairment | Distal sensory impairment in lower limbs | Distal sensory impairment of the lower extremities | Distal sensory loss | Distal sensory loss, upper and lower limbs | Loss of distal sensation HPO2016_07_04:An abnormal reduction in sensation in the distal portions of the extremities. [HPO:probinson] HPO2016_07_04:HP:0002936|OMIM2016_04_17:MTHU000872|OMIM2016_04_17:MTHU000902|OMIM2016_04_17:MTHU002518|OMIM2016_04_17:MTHU003884|OMIM2016_04_17:MTHU005162|OMIM2016_04_17:MTHU006009|OMIM2016_04_17:MTHU010435 C0020474 Hyperlipidemia, familial combined COMBINED HYPERLIPIDEMIA, FAMILIAL | Combined Hyperlipidemia, Familial | Combined Hyperlipidemias, Familial | FAMILIAL COMBINED HYPERLIPIDEMIA | FCHL | FCHL (familial combined hyperlipidemia) | FCHL - Familial combined hyperlipidaemia | FCHL - Familial combined hyperlipidemia | Familial Combined Hyperlipidemia | Familial Combined Hyperlipidemias | Familial combined hyperlipidaemia | Familial combined hyperlipidemia | Familial combined hyperlipidemia (disorder) | Familial combined hyperlipidemia (disorder) [Ambiguous] | Familial hyperlipoproteinaemia type IIb | Familial hyperlipoproteinemia type IIb | Familial multiple lipoprotein-type hyperlipidaemia | Familial multiple lipoprotein-type hyperlipidemia | Familial multiple lipoprotein-type hyperlipidemia (disorder) | Fredrickson type IIb hyperlipoproteinaemia | Fredrickson type IIb hyperlipoproteinemia | HYPERLIPIDEMIA, FAMILIAL COMBINED | Hyperapobetalipoproteinaemia | Hyperapobetalipoproteinemia | Hyperlipidemia Type IIb | Hyperlipidemia, Familial Combined | Hyperlipidemia, Familial Combined [Disease/Finding] | Hyperlipidemia, Multiple Lipoprotein Type | Hyperlipidemia, Multiple Lipoprotein-Type | Hyperlipidemias, Familial Combined | Hyperlipidemias, Multiple Lipoprotein-Type | Hyperlipoproteinemia Type IIb | Lipoprotein-Type Hyperlipidemia, Multiple | Lipoprotein-Type Hyperlipidemias, Multiple | MIXED HYPERLIPIDEMIA | Mixed hyperlipidaemia | Mixed hyperlipidaemia (disorder) | Mixed hyperlipidemia | Multiple Lipoprotein-Type Hyperlipidemia | Multiple Lipoprotein-Type Hyperlipidemias | Multiple-type hyperlipidaemia | Multiple-type hyperlipidemia | Type IIb Hyperlipidemia | Type IIb Hyperlipoproteinemia | Type IIb hyperlipidaemia | Type IIb hyperlipidemia | broad floating betalipoproteinemia | disorder hyperlipidemia mixed | familial combined hyperlipidemia | familial combined hyperlipidemia (diagnosis) | familial; hyperlipidemia, combined | hyperlipidemia; familial combined | mixed hyperlipidemia HPO2016_07_04:Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein. [HPO:probinson, pmid:6579550] | MSH2017_2016_08_12:A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1. | NCI2016_02D:A disorder of lipoprotein metabolism characterized by high levels of cholesterol and triglycerides in the blood. It is caused by elevation of low density and very low density lipoproteins. HPO2016_07_04:HP:0008158|ICD10CM_2017:E78.4|MSH2017_2016_08_12:D006950|OMIM2016_04_17:144250|OMIM2016_04_17:609708|SNOMEDCT_US_2016_09_01:154742006|SNOMEDCT_US_2016_09_01:190780005|SNOMEDCT_US_2016_09_01:238040008|SNOMEDCT_US_2016_09_01:299465007|SNOMEDCT_US_2016_09_01:48190005 C4020918 Dysharmonic bone age Dysharmonic bone age | Dysharmonic skeletal maturation HPO2016_07_04:Different levels of maturation of different bones. [HPO:probinson] HPO2016_07_04:HP:0200000 C1956125 Alagille syndrome 1 ALAGILLE SYNDROME 1 | ALGS1 | Alagille Syndrome 1 | HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC MSH2017_2016_08_12:D016738|OMIM2016_04_17:118450|OMIM2016_04_17:601920 C0033936 Psychoses, alcoholic ALCOHOLIC PSYCHOSIS | Alcohol induced psychosis | Alcohol-induced psychosis | Alcohol-induced psychosis (disorder) | Alcohol-induced psychosis, NOS | Alcohol-induced psychotic disorder | Alcoholic Psychoses | Alcoholic Psychosis | Alcoholic neurologic psychosis | Alcoholic psychoses | Alcoholic psychoses (disorder) | Alcoholic psychosis | Alcoholic psychosis NOS | Alcoholic psychosis NOS (disorder) | Alcoholic psychosis, NOS | Alcoholic psychosis, unspecified | Alcoholism with psychosis | Mental & behav dis due to use alcohol: psychotic disorder | Mental and behavioral disorders due to use of alcohol, psychotic disorder | Mental and behavioral disorders due to use of alcohol: psychotic disorder | Mental and behavioural disorders due to use of alcohol, psychotic disorder | Mental and behavioural disorders due to use of alcohol: psychotic disorder | Psychoses, Alcoholic | Psychoses, Alcoholic [Disease/Finding] | Psychosis alcoholic | Psychosis;alcoholic | Psychot dis due to alcohol | Unspecified alcohol-induced mental disorders | Unspecified alcoholic psychosis | [X]Alcoholic psychosis NOS | [X]Mental & behav dis due to use alcohol: psychotic disorder | [X]Mental and behavioral disorders due to use of alcohol: psychotic disorder | [X]Mental and behavioral disorders due to use of alcohol: psychotic disorder (disorder) | [X]Mental and behavioural disorders due to use of alcohol: psychotic disorder | [X]Psychot dis due to alcohol | alcohol induced psychosis | alcohol psychosis | alcohol-induced psychotic disorder | alcohol-induced psychotic disorder (diagnosis) | alcoholic psychoses | alcoholic psychosis | alcoholism; psychosis | disorder; psychotic, alcohol (due to), alcoholic | psychosis; alcoholic | psychotic; disorder, alcohol (due to), alcoholic CSP2006:acute and chronic mental disorders characterized by gross impairment in reality perception due to alcoholism; evidenced by delusions, hallucinations, markedly incoherent speech or disorganized and agitated behavior; includes alcohol withdrawal seizures and delirium, alcohol amnestic disorder and alcoholic neuropathies. | MSH2017_2016_08_12:A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol. ICD9CM_2014:291.9|MSH2017_2016_08_12:D011604|SNOMEDCT_US_2016_09_01:154852003|SNOMEDCT_US_2016_09_01:191482008|SNOMEDCT_US_2016_09_01:192212000|SNOMEDCT_US_2016_09_01:268684002|SNOMEDCT_US_2016_09_01:42344001 C0796205 Spinocerebellar ataxia, x-linked 1 Apak syndrome | OLIVOPONTOCEREBELLAR ATROPHY, X-LINKED | OPCA, X-LINKED | OPCA, X-Linked | OPCAX | Olivopontocerebellar Atrophy, X-Linked | SCAX1 | SPINOCEREBELLAR ATAXIA, X-LINKED 1 | Spinocerebellar Ataxia, X-Linked 1 | X-linked cerebellar ataxia | X-linked cerebellar ataxia (CLA) | X-linked olivopontocerebellar atrophy | X-linked olivopontocerebellar atrophy (OPCA) JABL99:Nystagmus, pyramidal signs, spastic paraplegia, truncal ataxia, dysarthric speech, mental retardation, and bone abnormalities. MSH2017_2016_08_12:C563134|OMIM2016_04_17:302500 C0151701 Hemorrhage lung HEMORRHAGE LUNG | HEMORRHAGE PULMONARY | Haemorrhage lung | Haemorrhage pulmonary | Haemorrhagic lung | Hemorrhage lung | Hemorrhage pulmonary | Hemorrhagic lung | LUNG HEMORRHAGE | Lung haemorrhage | Lung hemorrhage | PULMONARY HAEMORRHAGE | PULMONARY HEMORRHAGE | Pulmonary Hemorrhage | Pulmonary bleeding | Pulmonary haemorrhage | Pulmonary haemorrhage NOS | Pulmonary haemorrhage [D] | Pulmonary haemorrhage [D] (situation) | Pulmonary hemorrhage | Pulmonary hemorrhage (disorder) | Pulmonary hemorrhage NOS | Pulmonary hemorrhage [D] | Pulmonary hemorrhage [D] (disorder) | [D]Pulmonary haemorrhage | [D]Pulmonary haemorrhage NOS | [D]Pulmonary hemorrhage | [D]Pulmonary hemorrhage (context-dependent category) | [D]Pulmonary hemorrhage (situation) | [D]Pulmonary hemorrhage NOS | [D]Pulmonary hemorrhage NOS (context-dependent category) | [D]Pulmonary hemorrhage NOS (situation) | hemorrhage lung | hemorrhage; lung | hemorrhage; pulmonary | hemorrhagic lung | hemorrhagic lungs | lung haemorrhage | lung hemorrhage | lung hemorrhagic | lung; hemorrhage | pulmonary haemorrhage | pulmonary hemorrhage | pulmonary hemorrhage (diagnosis) | pulmonary; hemorrhage NCI2016_02D:Bleeding from the lung parenchyma. ICD10CM_2017:R04.89|OMIM2016_04_17:MTHU023458|SNOMEDCT_US_2016_09_01:158386009|SNOMEDCT_US_2016_09_01:207070002|SNOMEDCT_US_2016_09_01:274252009|SNOMEDCT_US_2016_09_01:78144005 C0009319 Colitis Already mapped above AAHA ID #: 727 | COLITIS | COLITIS (NOS) | COLON NOS INFLAMMATION | Colitides | Colitis | Colitis (NOS) | Colitis (disorder) | Colitis NOS | Colitis [Disease/Finding] | Colitis, NOS | Colon inflamed | Colon inflammation | Inflammation of colon | colitis | colitis (diagnosis) | colon (non-specific) inflammation | colon inflammation CSP2006:inflammation of the colon. | HPO2016_07_04:Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. [HPO:sdoelken] | MSH2017_2016_08_12:Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER. | NCI2016_02D:Inflammation of the colon. | NCI2016_CTCAE_1602D:A disorder characterized by inflammation of the colon. | NCI2016_NCI-GLOSS_1602D:Inflammation of the colon. | NCI2016_NICHD_1602D:Inflammation of the colon. HPO2016_07_04:HP:0002583|ICD10CM_2017:K52.9|MSH2017_2016_08_12:D003092|OMIM2016_04_17:MTHU036324|SNOMEDCT_US_2016_09_01:64226004 C2750729 Amyotrophic lateral sclerosis 6, autosomal recessive AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE | Amyotrophic Lateral Sclerosis 6, Autosomal Recessive MSH2017_2016_08_12:C567699|OMIM2016_04_17:137070 C3151351 Deafness, autosomal recessive 89 DEAFNESS, AUTOSOMAL RECESSIVE 89 | DFNB89 OMIM2016_04_17:601421|OMIM2016_04_17:613916 C2751536 Cerebral amyloid angiopathy, app-related AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED OMIM2016_04_17:605714 C1333038 Cll/sll with unmutated igvh CLL/SLL with Unmutated IGVH | Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma with Unmutated Immunoglobulin Heavy Chain Variable-Region Gene | Pregerminal Center Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma NCI2016_02D:A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years. C2677086 Skin/hair/eye pigmentation, variation in, 11 MELANESIAN BLOND HAIR | SHEP11 | SKIN/HAIR/EYE PIGMENTATION 11, BLUE/NONBLUE EYES | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11 | Skin-Hair-Eye Pigmentation 11, Blue-Nonblue Eyes | Skin-Hair-Eye Pigmentation, Variation In, 11 MSH2017_2016_08_12:C567374|OMIM2016_04_17:115501|OMIM2016_04_17:612271 C1333974 Hepatic extraskeletal osteosarcoma Hepatic Extraskeletal Osteosarcoma | Hepatic Osteogenic Sarcoma | Hepatic Osteosarcoma | Liver Extraskeletal Osteosarcoma | Liver Osteogenic Sarcoma | Liver Osteosarcoma | Osteogenic Sarcoma of Liver | Osteogenic Sarcoma of the Liver | Osteosarcoma of Liver | Osteosarcoma of the Liver NCI2016_02D:An osteosarcoma arising from the liver. C0155145 Chronic conjunctivitis nos Chronic Conjunctivitis | Chronic conjunctivitis | Chronic conjunctivitis (disorder) | Chronic conjunctivitis NOS | Chronic conjunctivitis NOS (disorder) | Chronic conjunctivitis unspec. | Chronic conjunctivitis, NOS | Chronic conjunctivitis, unspecified | Conjunctivitis chronic | Unspecified chronic conjunctivitis | Unspecified chronic conjunctivitis (disorder) | chronic conjunctivitis | chronic conjunctivitis (diagnosis) | chronic; conjunctivitis | conjunctivitis; chronic ICD10CM_2017:H10.4|ICD10CM_2017:H10.40|ICD9CM_2014:372.1|ICD9CM_2014:372.10|SNOMEDCT_US_2016_09_01:155163007|SNOMEDCT_US_2016_09_01:193865006|SNOMEDCT_US_2016_09_01:193869000|SNOMEDCT_US_2016_09_01:73762008 C4025849 Abnormality of the fovea Abnormality of the fovea HPO2016_07_04:An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina. [HPO:probinson] HPO2016_07_04:HP:0000493 C1856974 Pontocerebellar hypoplasia type 4 (disorder) ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA | Encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia | Olivopontocerebellar hypoplasia lethal type | PCH4 | PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) | PONTOCEREBELLAR HYPOPLASIA, TYPE 4 | Pontocerebellar Hypoplasia Type 4 | Young McKeever Squier syndrome MSH2017_2016_08_12:C536716|OMIM2016_04_17:225753|OMIM2016_04_17:608755 C4020718 Wide nasal ridge Broad dorsum of nose | Broad nasal dorsum | Broad nasal ridge | Increased width of dorsum of nose | Increased width of nasal dorsum | Increased width of nasal ridge | Nasal ridge, wide | Wide dorsum of nose | Wide nasal dorsum | Wide nasal ridge HPO2016_07_04:Increased width of the nasal ridge. [HPO:probinson, pmid:19152422] HPO2016_07_04:HP:0012811|OMIM2016_04_17:MTHU050423|OMIM2016_04_17:MTHU052282 C0015464 Facial nerve diseases Cranial Nerve VII Diseases | Cranial Nerve VII Disorders | Disease, Facial Nerve | Diseases, Facial Nerve | Disorder of cranial nerve 7 | Disorder of facial nerve | Disorder of facial nerve (disorder) | Disorder of facial nerve, unspecified | Disorder of of seventh cranial nerve, NOS | Disorder of seventh cranial nerve | Disorder of seventh cranial nerve, NOS | Disorder, Facial Nerve | Disorders of the VIIth cranial nerve | Disorders of the seventh nerve | Disorders, Facial Nerve | Facial Nerve Disease | Facial Nerve Diseases | Facial Nerve Diseases [Disease/Finding] | Facial Nerve Disorder | Facial Nerve Disorders | Facial Neuropathies | Facial Neuropathy | Facial cranial nerve disorders | Facial nerve disease or syndrome | Facial nerve disorder | Facial nerve disorder (disorder) | Facial nerve disorder NOS | Facial nerve disorder NOS (disorder) | Facial nerve disorder, NOS | Facial nerve disorder, unspecified | Facial nerve disorders | Facial nerve disorders NOS | Facial nerve--Diseases | Facial neuropathy | Facial neuropathy (disorder) | LMNL of VIIth nerve | Neuropathies, Facial | Neuropathy, Facial | Seventh Cranial Nerve Diseases | Seventh cranial nerve disease or syndrome | Seventh cranial nerve disorder | cranial nerve vii diseases | disease (or disorder); cranial nerve, seventh | disease (or disorder); facial nerve | disorder facial nerve | disorder of facial nerve | disorder of facial nerve (diagnosis) | facial nerve disease | facial nerve diseases | facial nerve disorder | facial nerve disorders | facial nerve palsies | facial neuropathy MSH2017_2016_08_12:Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation. | NCI2016_02D:A non-neoplastic or neoplastic disorder affecting the facial nerve (seventh cranial nerve). | NCI2016_CTCAE_1602D:A disorder characterized by involvement of the facial nerve (seventh cranial nerve). ICD10CM_2017:G51|ICD10CM_2017:G51.9|ICD9CM_2014:351|ICD9CM_2014:351.9|MSH2017_2016_08_12:D005155|SNOMEDCT_US_2016_09_01:155069009|SNOMEDCT_US_2016_09_01:155071009|SNOMEDCT_US_2016_09_01:193097005|SNOMEDCT_US_2016_09_01:230543003|SNOMEDCT_US_2016_09_01:267704007|SNOMEDCT_US_2016_09_01:422426003|SNOMEDCT_US_2016_09_01:90039006 C1845888 Thrombocythemia, x-linked THCYTX | THROMBOCYTHEMIA, X-LINKED | THROMBOCYTOSIS, X-LINKED OMIM2016_04_17:300331 C2678492 Sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS | 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs | SERKAL | SERKAL SYNDROME | SERKAL Syndrome | Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs NCI2016_02D:An autosomal recessive condition characterized by female to male sex reversal and kidney, adrenal, and lung dygenesis, due to mutation(s) in the WNT4 gene. MSH2017_2016_08_12:C567517|OMIM2016_04_17:603490|OMIM2016_04_17:611812 C1856302 Gsd iv, nonprogressive hepatic GSD IV, NONPROGRESSIVE HEPATIC | GSD IV, Nonprogressive Hepatic MSH2017_2016_08_12:C565540|OMIM2016_04_17:232500 C0085700 Chondromalacia CHONDROMALACIA | Chondromalacia | Chondromalacia (disorder) | Chondromalacia NOS | Chondromalacia NOS (disorder) | Chondromalacia, NOS | Chondromalacia, site unspecified | Chondromalacia, unspecified site | Chondromalacias | chondromalacia | chondromalacia (diagnosis) | joint cartilage softening MSH2017_2016_08_12:Softening and degeneration of the CARTILAGE. ICD10CM_2017:M94.2|ICD10CM_2017:M94.20|ICD9CM_2014:733.92|MSH2017_2016_08_12:D002357|SNOMEDCT_US_2016_09_01:203512007|SNOMEDCT_US_2016_09_01:63198006 C0546884 Hypovolemia Depleted blood volume | Depletion of volume of plasma AND/OR extracellular fluid | Depletion of volume of plasma or extracellular fluid | Fluid Volume Deficit | Fluid depletion | Fluid volume deficit | Fluid volume deficit (finding) | Fluid volume depletion | HYPOVOLAEMIA | HYPOVOLEMIA | Hypovolaemia | Hypovolaemia (disorder) | Hypovolemia | Hypovolemia (disorder) | Hypovolemia [Disease/Finding] | Hypovolemias | OLIGEMIA | Oligemia | Sodium and water depletion | VOLUME DEPLETION | Volume depletion | Volume depletion NOS | Volume depletion NOS (disorder) | Volume depletion, unspecified | deficit fluid volume | deficit; fluid | deficit; volume (plasma) (extracellular fluid) | depletion volume | fluid volume deficit | fluid; deficit | hypovolaemia | hypovolemia | oligemia | rndx fluid volume deficit | rndx fluid volume deficit (diagnosis) | volume depletion | volume depletion (diagnosis) | volume depletion disorder CCC2_5:Dehydration or fluid loss | CSP2006:abnormally decreased volume of circulating fluid (plasma) in the body. | HPO2016_07_04:An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. [HPO:probinson] | MSH2017_2016_08_12:An abnormally low volume of blood circulating through the body. It may result in hypovolemic shock (see SHOCK). | NCI2016_02D:Abnormally decreased volume of circulating fluid (plasma) in body. | NCI2016_FDA_1602D:Abnormally decreased volume of circulating fluid (plasma) in body. | NCI2016_NICHD_1602D:Too little fluid in the blood. HPO2016_07_04:HP:0011106|ICD10CM_2017:E86|ICD10CM_2017:E86.1|ICD10CM_2017:E86.9|ICD9CM_2014:276.5|ICD9CM_2014:276.50|ICD9CM_2014:276.52|MSH2017_2016_08_12:D020896|SNOMEDCT_US_2016_09_01:154763008|SNOMEDCT_US_2016_09_01:190895002|SNOMEDCT_US_2016_09_01:190897005|SNOMEDCT_US_2016_09_01:28560003|SNOMEDCT_US_2016_09_01:37472003 C1266095 Thymoma, type b2 Cortical Thymoma | Polygonal Cell Thymoma | Thymoma Type B2 | Thymoma, cortical | Thymoma, type B2 | Thymoma, type B2 (morphologic abnormality) | cortical thymoma | polygonal cell thymoma | type B2 thymoma NCI2016_02D:A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently. SNOMEDCT_US_2016_09_01:128713007 C1856303 Gsd iv, neuromuscular form, fatal perinatal GSD IV, NEUROMUSCULAR FORM, FATAL PERINATAL | GSD IV, Neuromuscular Form, Fatal Perinatal MSH2017_2016_08_12:C565541|OMIM2016_04_17:232500 C1866753 Impaired horizontal smooth pursuit Impaired horizontal smooth pursuit | Impaired horizontal visual pursuit HPO2016_07_04:An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects. [HPO:probinson] HPO2016_07_04:HP:0001151|OMIM2016_04_17:MTHU000950|OMIM2016_04_17:MTHU015562 C0574718 Lower limb nerve lesion Lower limb nerve lesion | Lower limb nerve lesion (disorder) SNOMEDCT_US_2016_09_01:297946004 C3494977 Migrating partial seizures in infancy, intractable Migrating partial seizures in infancy, intractable | Migrating partial seizures in infancy, refractory | Migrating partial seizures in infancy, refractory (disorder) SNOMEDCT_US_2016_09_01:432011000124107 C1706921 Benign fibrous histiocytoma of bone Benign Fibrous Histiocytoma of Bone | benign fibrous histiocytoma of bone | benign fibrous histiocytoma of bone (diagnosis) NCI2016_02D:A rare, benign neoplasm, usually arising from the non-metaphyseal regions of long bones or pelvis. It is characterized by the presence of fibroblastic spindle cells arranged in a whorled storiform pattern, osteoclast-like giant cells, foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage. C3809165 Multiple mitochondrial dysfunctions syndrome 3 MMDS3 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 OMIM2016_04_17:615330 C1864112 Huntington disease-like 1 HDL1 | HLN1 | HUNTINGTON DISEASE-LIKE 1 | HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER 1 | HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL DOMINANT | Huntington Disease-Like 1 | Huntington-Like Neurodegenerative Disorder 1 | Huntington-Like Neurodegenerative Disorder, Autosomal Dominant | PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES | Prion Disease, Early-Onset, With Prominent Psychiatric Features MSH2017_2016_08_12:C566398|OMIM2016_04_17:176640|OMIM2016_04_17:603218 C0752166 Bardet-biedl syndrome BARDET-BIEDL SYNDROME | BBS | Bardet Biedl Syndrome | Bardet-Biedl Syndrome | Bardet-Biedl Syndrome [Disease/Finding] | Bardet-Biedl syndrome | Bardet-Biedl syndrome (BBS) | Bardet-Biedl syndrome (disorder) | Biedl-Bardet | Biedl-Bardet syndrome | LMBB - Laurence-Moon-Bardet-Biedl syndrome | Laurence Moon Bardet Biedl Syndrome | Laurence-Moon (-Bardet)-Biedl syndrome | Laurence-Moon-Bardet-Biedl Syndrome | Laurence-Moon-Bardet-Biedl syndrome | Syndrome, Bardet-Biedl | Syndrome, Laurence-Moon-Bardet-Biedl | bardet biedl syndrome | bardet-biedl syndrome JABL99:A syndrome characterized mainly by obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure in fatal cases. Two forms have been identified: Bardet-Biedl syndrome 1 (BBS1) has no linkage to chromosome 16 Bardet-Biedl syndrome 2 (BBS2) is mapped to markers on chromosome 16. Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet syndrome are no longer considered as valid terms in that patients of Laurence and Moon had paraplegia but no polydactyly and obesity which are the key elements of the Bardet-Biedl the syndrome. Laurence-Moon syndrome is a separate entity. | MSH2017_2016_08_12:An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8) | NCI2016_02D:An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes. It is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills. | NCI2016_NICHD_1602D:An autosomal recessive syndrome caused by mutations in at least fourteen different genes, called BBS genes, which is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills. ICD10CM_2017:Q87.89|MSH2017_2016_08_12:D020788|SNOMEDCT_US_2016_09_01:5619004 C1848137 Epilepsy, female-restricted, with mental retardation (disorder) Convulsive Disorder and Mental Retardation | EFMR | EIEE9 | EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION | EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9 | Epilepsy, Female-Restricted, with Mental Retardation | JUBERG-HELLMAN SYNDROME MSH2017_2016_08_12:C564715|OMIM2016_04_17:300088|OMIM2016_04_17:300460 C4225378 Short-rib thoracic dysplasia 13 with or without polydactyly SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY | SRTD13 OMIM2016_04_17:613446|OMIM2016_04_17:616300 C2072946 Computed tomography of chest: thoracic aortic aneurysm CT of chest thoracic aortic aneurysm | aortic aneurysm | chest CT thoracic aortic aneurysm | computed tomography of chest: thoracic aortic aneurysm | computed tomography of chest: thoracic aortic aneurysm (procedure) C0155492 Middle ear cholesterol granuloma Cholesterin Granuloma of Middle Ear | Cholesterin granuloma | Cholesterin granuloma of middle ear | Cholesterin granuloma of middle ear (disorder) | Cholesterin granuloma of middle ear and mastoid | Cholesterol Granuloma of Middle Ear | Cholesterol Granuloma of the Middle Ear | Middle Ear Cholesterol Granuloma | cholesterin granuloma | cholesterin granuloma (diagnosis) ICD9CM_2014:385.82|SNOMEDCT_US_2016_09_01:28371001 C3808414 Perrault syndrome 3 DEAFNESS, AUTOSOMAL RECESSIVE 81, FORMERLY | DFNB81, FORMERLY | PERRAULT SYNDROME 3 | PRLTS3 OMIM2016_04_17:601119|OMIM2016_04_17:614129 C4023136 Reduced alpha/beta synthesis ratio Reduced alpha/beta synthesis ratio HPO2016_07_04:A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia. [HPO:probinson] HPO2016_07_04:HP:0011907 C0521484 Anaesthesia of mucous membrane Anaesthesia of mucous membrane | Anesthesia of mucous membrane | Anesthesia of mucous membrane (finding) | Mucosal anaesthesia | Mucosal anesthesia SNOMEDCT_US_2016_09_01:95357004 C0857138 Frank diarrhea Frank diarrhea | Frank diarrhoea C0000832 Abruptio placentae ABLATIO PLACENTAE | ABRUPTIO PLACENTA | ABRUPTIO PLACENTAE | Ablatio placentae | Abruptio Placenta | Abruptio Placentae | Abruptio Placentae [Disease/Finding] | Abruptio Placentae, Premature Separation of Placenta | Abruptio placenta | Abruptio placentae | Abruptio placentae NOS | Abruptio placentae syndrome | Abruption, Placental | Abruptions, Placental | Accidental antepartum haemorrhage | Accidental antepartum hemorrhage | Accidental antepartum hemorrhage (diagnosis) | Accidental antepartum hemorrhage (disorder) | Accidental haemorrhage | Accidental hemorrhage | Accidental hemorrhage (finding) | Couvelaire placenta | Couvelaire syndrome | Detachment of placenta | PLACENTA ABRUPTIO | PLACENTA, PREMATURE SEPARATION | Placenta abruptio | Placental Abruption | Placental Abruptions | Placental abruption | Placental abruption (disorder) | Placental abruption NOS | Placental abruption NOS (disorder) | Placental abruption [Ambiguous] | Placental abruption unspecif. | Placental abruption unspecified | Placental abruption unspecified (disorder) | Placental separation | Premature Separation of Placenta | Premature detachment of normally implanted placenta | Premature detachment of placenta | Premature placental detachment | Premature placental separation | Premature separation of normally implanted placenta | Premature separation of placenta | Premature separation of placenta (disorder) | Premature separation of placenta [abruptio placentae] | Premature separation of placenta, unspecified | Premature separation of placenta, unspecified as to episode of care | Premature separation of placenta, unspecified as to episode of care or not applicable | Premature separation of placenta, unspecified, unspecified trimester | Prematurely separated placenta | ablatio placentae | abruptio placenta | abruptio placentae | abruption placental | accidental haemorrhage | accidental hemorrhage | antepartum hemorrhage accidental | placenta abruptio | placenta abruption | placenta abruption (diagnosis) | placenta; abruptio | placenta; detachment | placentae abruptio | placentae; ablatio | placental abruption | placental separation | pregnancy; placenta, separation, premature | pregnancy; separation, placental, premature | premature separation of placenta | premature; separation placenta HPO2016_07_04:Separation of the placenta from the uterus wall before delivery. [DDD:hfirth] | MSH2017_2016_08_12:Premature separation of the normally implanted PLACENTA from the UTERUS. Signs of varying degree of severity include UTERINE BLEEDING, uterine MUSCLE HYPERTONIA, and FETAL DISTRESS or FETAL DEATH. | NCI2016_02D:Placental separation from the uterus with bleeding (concealed or vaginal) before fetal birth, with or without maternal/fetal compromise. (reVITALize)(NICHD) | NCI2016_NICHD_1602D:Placental separation from the uterus with bleeding (concealed or vaginal) before fetal birth, with or without maternal/fetal compromise. [verbatim from reVITALize] HPO2016_07_04:HP:0011419|ICD10CM_2017:O45|ICD10CM_2017:O45.9|ICD10CM_2017:O45.90|ICD9CM_2014:641.2|ICD9CM_2014:641.20|MSH2017_2016_08_12:D000037|SNOMEDCT_US_2016_09_01:156102007|SNOMEDCT_US_2016_09_01:198908009|SNOMEDCT_US_2016_09_01:198909001|SNOMEDCT_US_2016_09_01:198913008|SNOMEDCT_US_2016_09_01:267198008|SNOMEDCT_US_2016_09_01:35898002|SNOMEDCT_US_2016_09_01:360561001|SNOMEDCT_US_2016_09_01:405736009|SNOMEDCT_US_2016_09_01:415105001 C1970827 Phosphoribosylpyrophosphate synthetase superactivity GOUT, PRPS-RELATED | Gout, PRPS-Related | PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY | PRPS1 SUPERACTIVITY | Phosphoribosylpyrophosphate Synthetase Superactivity MSH2017_2016_08_12:C567064|OMIM2016_04_17:300661|OMIM2016_04_17:311850 C1827389 Epilepsy not intractable Epilepsy, not intractable | Epilepsy, not intractable (diagnosis) | Epilepsy, not refractory | Epilepsy, not refractory (disorder) | epilepsy not intractable SNOMEDCT_US_2016_09_01:422513000 C1846719 Specific language impairment 3 SLI3 | SPECIFIC LANGUAGE IMPAIRMENT 3 | SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13 OMIM2016_04_17:607134 C1332635 Breast endocrine neoplasm Breast Endocrine Neoplasm | Breast Neuroendocrine Neoplasm | Neuroendocrine Neoplasm of Breast | Neuroendocrine Neoplasm of the Breast NCI2016_02D:A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare. C0346249 Cystadenocarcinoma of kidney Cystadenocarcinoma of kidney | Cystadenocarcinoma of kidney (disorder) | Multilocular Clear Cell Renal Cell Carcinoma | Multilocular Cystic Renal Cell Carcinoma | Renal Cystadenocarcinoma | cystadenocarcinoma of kidney | cystadenocarcinoma of kidney (diagnosis) NCI2016_02D:A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells. SNOMEDCT_US_2016_09_01:254916002 C0038160 Staphylococcal infections Bacterial infection due to unspecified staphylococcus | Infection staphylococcal | Infection, Staphylococcal | Infection;staphylococcal | Infections, Staphylococcal | STAPH INFECTION | STAPHYLOCOCCAL INFECTIONS | Staph | Staphylococcal Infection | Staphylococcal Infections | Staphylococcal Infections [Disease/Finding] | Staphylococcal diseases | Staphylococcal infection | Staphylococcal infection NOS | Staphylococcal infection, NOS | Staphylococcal infection, unspecified | Staphylococcal infections | Staphylococcal infectious disease | Staphylococcal infectious disease (disorder) | Staphylococcal infectious disease, NOS | Staphylococcosis | Staphylococcus infection | Staphylococl infectn,unspcf | [X]Staphylococcal infection, unspecified | [X]Staphylococcal infection, unspecified (disorder) | [X]Staphylococl infectn,unspcf | infection; staphylococcal | staph infection | staphylococcal diseases | staphylococcal infection | staphylococcal infection (diagnosis) | staphylococcal infections | staphylococcal; infection | staphylococcosis | staphylococcus bacteria infection | staphylococcus infection CSP2006:infections with bacteria of the genus Staphylococcus; includes staphylococcal pneumonia, staph skin infections, furunculosis, carbuncle, impetigo, Ritter disease, scalded skin syndrome, etc. | MEDLINEPLUS_20151021:Staph is short for Staphylococcus, a type of bacteria. There are over 30 types, but Staphylococcus aureus causes most staph infections (pronounced "staff infections"), including
Skin infections are the most common. They can look like pimples or boils. They may be red, swollen and painful, and sometimes have pus or other drainage. They can turn into impetigo, which turns into a crust on the skin, or cellulitis, a swollen, red area of skin that feels hot.
Anyone can get a staph skin infection. You are more likely to get one if you have a cut or scratch, or have contact with a person or surface that has staph bacteria. The best way to prevent staph is to keep hands and wounds clean. Most staph skin infections are easily treated with antibiotics or by draining the infection. Some staph bacteria such as MRSA (methicillin-resistant Staphylococcus aureus) are resistant to certain antibiotics, making infections harder to treat.
| MSH2017_2016_08_12:Infections with bacteria of the genus STAPHYLOCOCCUS. MSH2017_2016_08_12:D013203|SNOMEDCT_US_2016_09_01:187342006|SNOMEDCT_US_2016_09_01:56038003 C1168153 Arterial calcification Arterial calcification | arterial calcification | arterial calcifications HPO2016_07_04:Pathological deposition of calcium salts in one or more arteries. [HPO:probinson, pmid:18519861] HPO2016_07_04:HP:0003207 C4022657 Abnormal drinking behavior Abnormal drinking behavior HPO2016_07_04:Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. [] HPO2016_07_04:HP:0030082 C2936880 Spastic paraplegia 37, autosomal dominant (disorder) SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT | SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT (disorder) | SPG37 | Spastic Paraplegia 37, Autosomal Dominant MSH2017_2016_08_12:C567931|OMIM2016_04_17:611945 C3163622 Papillary meningioma Meningioma, Papillary | Meningiomas, Papillary | Papillary Meningioma | Papillary Meningiomas | Papillary meningioma | Papillary meningioma (morphologic abnormality) | Rhabdoid meningioma | papillary meningioma | papillary meningioma (diagnosis) NCI2016_02D:A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern. MSH2017_2016_08_12:D008579|SNOMEDCT_US_2016_09_01:128840000|SNOMEDCT_US_2016_09_01:57606003 C0424605 Developmental delay (disorder) DEVELOPMENTAL DELAY | DEVELOPMENTAL RETARDATION | Delay;developmental | Delayed Development | Delayed development | Development delay - NOS | Development delay NOS | Development delay NOS (disorder) | Developmental Delay | Developmental delay | Developmental delay (disorder) | Developmental delay NOS | Unspecified delay in development | child developmental delay | delayed development | delays developmental | development delay | development; retardation | developmental delay | developmental retardation | disturbance; learning | retardation; developmental NCI2016_02D:Failure to meet, or late achievement of developmental milestones. | NCI2016_NICHD_1602D:Failure to meet, or late achievement of developmental milestones. | PSY2004:Delays in any or all areas including cognitive, social, language, sensory, and emotional development. ICD9CM_2014:315.9|OMIM2016_04_17:MTHU000185|OMIM2016_04_17:MTHU000363|SNOMEDCT_US_2016_09_01:154953009|SNOMEDCT_US_2016_09_01:154957005|SNOMEDCT_US_2016_09_01:248290002|SNOMEDCT_US_2016_09_01:268787000|SNOMEDCT_US_2016_09_01:268790006|SNOMEDCT_US_2016_09_01:288196003 C1859452 Microcephalic osteodysplastic primordial dwarfism, type i BRACHYMELIC PRIMORDIAL DWARFISM | Brachymelic primordial dwarfism | CEPHALOSKELETAL DYSPLASIA | Cephaloskeletal dysplasia | LOW-BIRTH-WEIGHT DWARFISM WITH SKELETAL DYSPLASIA | Low-birth-weight dwarfism with skeletal dysplasia | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | MOPD | MOPD I | MOPD1 | Microcephalic Osteodysplastic Primordial Dwarfism, Type I | Microcephalic osteodysplastic primordial dwarfism, type 1 | Mopd | Mopd 1 | Mopd I | Mopd1 | MopdI | OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | Osteodysplastic Primordial Dwarfism, Type I | Osteodysplastic primordial dwarfism, type 1 | Osteodysplastic primordial dwarfism, type 1 (disorder) | TALS | TAYBI-LINDER SYNDROME | Taybi Linder syndrome | Taybi-Linder Syndrome | dwarfism, MOPD type I | dwarfism, MOPD type I (diagnosis) | microcephalic osteodysplastic primordial dwarfism type i MSH2017_2016_08_12:C537577|OMIM2016_04_17:210710|OMIM2016_04_17:601428|SNOMEDCT_US_2016_09_01:254102008 C1412747 Bbs2 gene BBS2 | BBS2 GENE | BBS2 gene | Bardet-Biedl syndrome 2 OMIM2016_04_17:606151 C0153461 Malignant neoplasm of pancreatic duct Malig neop pancreatic duct | Malig tumor pancreatic duct | Malig tumour pancreatic duct | Malignant neoplasm of duct of Wirsung | Malignant neoplasm of pancreatic duct | Malignant tumor of pancreatic duct | Malignant tumor of pancreatic duct (disorder) | Malignant tumour of pancreatic duct | malignant neoplasm of pancreatic duct | malignant neoplasm of pancreatic duct (diagnosis) | pancreatic neoplasm malignant pancreatic duct ICD10CM_2017:C25.3|ICD9CM_2014:157.3|SNOMEDCT_US_2016_09_01:187793004|SNOMEDCT_US_2016_09_01:93939009 C2350015 Data type -character Character | Data Type -Character NCI2016_02D:Any single letter, number, or symbol. C0334318 Carcinoma; lipid-rich Lipid-Rich Carcinoma | Lipid-rich carcinoma | Lipid-rich carcinoma (disorder) | Lipid-rich carcinoma (morphologic abnormality) | [M] Lipid-rich carcinoma | [M]Lipid-rich carcinoma | carcinoma; lipid-rich | lipid-rich; carcinoma NCI2016_02D:A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma. SNOMEDCT_US_2016_09_01:189655006|SNOMEDCT_US_2016_09_01:3839000 C0029132 Disorder of the optic nerve CRANIAL NERVE II OPTIC NERVE DISORDER | Cranial Nerve II Diseases | Cranial Nerve II Disorder | DISORDERS OF THE OPTIC NERVE | Disorder of cranial nerve 2 | Disorder of optic nerve | Disorder of optic nerve (disorder) | Disorder of optic nerve, NOS | Disorder of second cranial nerve | Disorder of the optic nerve | Disorders of the IInd cranial nerve | Disorders of the second nerve | Lesion, Neural-Optical | Lesions, Neural-Optical | Neural Optical Lesion | Neural-Optical Lesion | Neural-Optical Lesions | Neuropathies, Optic | Neuropathy, Optic | OPTIC NERVE | Optic Nerve Disease | Optic Nerve Diseases | Optic Nerve Diseases [Disease/Finding] | Optic Nerve Disorder | Optic Neuropathies | Optic Neuropathy | Optic nerve disease or syndrome | Optic nerve disorder | Optic nerve disorder NOS | Optic nerve disorders | Optic nerve--Diseases | Optic neuropathy | Second Cranial Nerve Diseases | Second Cranial Nerve Disorder | Second cranial nerve disorder | Second cranial nerve disorder or syndrome | cranial nerve; disorder, second (optic) | disease (or disorder); cranial nerve, second (optic) | disease (or disorder); nerve, optic | disease (or disorder); optic nerve | disease nerve optic | diseases nerve optic | diseases nerves optic | disorder of optic nerve | disorder of optic nerve (diagnosis) | disorders nerve optic | disorders nerves optic | n.opticus; disorder | neuropathy optic | optic nerve | optic nerve disease | optic nerve diseases | optic nerve disorder | optic nerve disorders | optic nerve; disorder | optic neuropathies | optic neuropathy CSP2006:conditions which produce injury or dysfunction in the 2nd cranial nerve; clinical manifestations may include decreased visual acuity and contrast sensitivity or impaired color vision. | MSH2017_2016_08_12:Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect. | NCI2016_02D:A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve). | NCI2016_CTCAE_1602D:A disorder characterized by involvement of the optic nerve (second cranial nerve). MSH2017_2016_08_12:D009901|SNOMEDCT_US_2016_09_01:194037001|SNOMEDCT_US_2016_09_01:267741008|SNOMEDCT_US_2016_09_01:77157004 C0031099 Periodontitis Inflammation around tooth | PERIODONTITIS | Periodontitides | Periodontitis | Periodontitis (disorder) | Periodontitis NOS | Periodontitis [Disease/Finding] | Periodontitis, NOS | Pyorrhea | parodontitis | periodontitis | periodontitis (diagnosis) CHV2011_02:a disease that attacks the gum and bone around the teeth | CSP2006:inflammatory reaction of the tissues surrounding a tooth (periodontium), usually resulting from the extension of gingival inflammation into the periodontium. | HPO2016_07_04:Inflammation of the periodontium. [HPO:ibailleulforestier] | MSH2017_2016_08_12:Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology) | NCI2016_02D:An acute or chronic inflammatory process that affects the tissues that surround and support the teeth. HPO2016_07_04:HP:0000704|ICD10CM_2017:K05.3|MSH2017_2016_08_12:D010518|OMIM2016_04_17:MTHU009733|SNOMEDCT_US_2016_09_01:155648008|SNOMEDCT_US_2016_09_01:266491004|SNOMEDCT_US_2016_09_01:41565005 C0151786 Muscle weakness Decrease in muscle strength | Decreased muscle strength | MUSCLE WEAKNESS | MUSCULAR WEAKNESS | Muscle Weakness | Muscle Weakness [Disease/Finding] | Muscle Weaknesses | Muscle strength reduced | Muscle weakness | Muscle weakness (finding) | Muscle weakness NOS | Muscular Weakness | Muscular Weaknesses | Muscular weakness | WEAKNESS MUSCLE | Weakness muscle | Weakness, Muscle | Weakness, Muscular | Weakness;muscle(s) | Weaknesses, Muscle | Weaknesses, Muscular | decreased muscle strength | muscle weakness | muscle weakness (symptom) | muscle weaknesses | muscle; weakness | muscular weakness HPO2016_07_04:Reduced strength of muscles. [HPO:probinson, pmid:15832536] | MSH2017_2016_08_12:A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251) | NCI2016_02D:A reduction in the strength of one or more muscles. | NCI2016_NICHD_1602D:Diminished strength in a muscle. HPO2016_07_04:HP:0001324|MSH2017_2016_08_12:D018908|OMIM2016_04_17:MTHU004882|OMIM2016_04_17:MTHU014377|OMIM2016_04_17:MTHU022790|SNOMEDCT_US_2016_09_01:26544005 C1849121 Thin face Thin face HPO2016_07_04:HP:0000275|OMIM2016_04_17:MTHU009370 C0025202 Melanoma Cutaneous melanoma | MALIGNANT MELANOMA | MELANOMA | MELANOMA MALIGNANT | MELANOMA, MALIGNANT | MM - Malignant melanoma | Malignant Melanoma | Malignant Melanomas | Malignant melanoma | Malignant melanoma (disorder) | Malignant melanoma (morphologic abnormality) | Malignant melanoma NOS | Malignant melanoma, NOS | Malignant melanoma, morphology (morphologic abnormality) | Malignant melanoma, no ICD-O subtype | Malignant melanoma, no ICD-O subtype (morphologic abnormality) | Malignant melanoma, no International Classification of Diseases for Oncology subtype | Malignant melanoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) | Melanocarcinoma | Melanoma | Melanoma (disorder) | Melanoma - malignant | Melanoma [Disease/Finding] | Melanoma malignant | Melanoma syndrome | Melanoma, Malignant | Melanoma, NOS | Melanomas | Melanomas, Malignant | Melanosarcoma | Nevocarcinoma | [M]Malignant melanoma NOS | [M]Malignant melanoma NOS (morphologic abnormality) | [M]Malignant melanoma NOS or melanocarcinoma or melanoma NOS | [M]Malignant melanoma NOS or melanocarcinoma or melanoma NOS (disorder) | [M]Melanocarcinoma | [M]Melanoma NOS | [M]Melanosarcoma NOS | [M]Naevocarcinoma | cutaneous melanoma | malignant melanoma | malignant melanoma (diagnosis) | malignant melanomas | malignant neoplasm melanoma | melanocarcinoma | melanoma | melanoma malignant | melanoma syndrome | melanomas | melanosarcoma | nevocarcinoma CSP2006:malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites; occurring mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo; frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. | HPO2016_07_04:The presence of a melanoma of the skin. [HPO:probinson] | HPO2016_07_04:The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). [HPO:probinson] | MEDLINEPLUS_20151021:Melanoma is the most serious type of skin cancer. Often the first sign of melanoma is a change in the size, shape, color, or feel of a mole. Most melanomas have a black or black-blue area. Melanoma may also appear as a new mole. It may be black, abnormal, or "ugly looking."
Thinking of "ABCDE" can help you remember what to watch for:
Surgery is the first treatment of all stages of melanoma. Other treatments include chemotherapy and radiation, biologic, and targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells.
NIH: National Cancer Institute
| MSH2017_2016_08_12:A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445) | NCI2016_02D:A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. | NCI2016_CDISC_1602D:A malignant neoplasm composed of melanocytes. | NCI2016_NCI-GLOSS_1602D:A form of cancer that begins in melanocytes (cells that make the pigment melanin). It may begin in a mole (skin melanoma), but can also begin in other pigmented tissues, such as in the eye or in the intestines. | NCI2016_NICHD_1602D:A malignant neoplasm comprised of melanocytes typically arising in the skin. HPO2016_07_04:HP:0002861|HPO2016_07_04:HP:0012056|MSH2017_2016_08_12:D008545|OMIM2016_04_17:MTHU000127|OMIM2016_04_17:MTHU001388|SNOMEDCT_US_2016_09_01:154501005|SNOMEDCT_US_2016_09_01:189749008|SNOMEDCT_US_2016_09_01:2092003|SNOMEDCT_US_2016_09_01:269503007|SNOMEDCT_US_2016_09_01:269577007|SNOMEDCT_US_2016_09_01:372244006 C3149841 Polycystic kidney disease 1 APKD1 | PKD1 | POLYCYSTIC KIDNEY DISEASE 1 | POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I OMIM2016_04_17:173900|OMIM2016_04_17:601313 C0280131 Ovarian teratoma Germ Cell Teratoma of Ovary | Germ Cell Teratoma of the Ovary | OVARIAN CANCER, TERATOMA | OVARIAN TERATOMA | OVARY, TERATOMA | Ovarian Germ Cell Teratoma | Ovarian Teratoma | Ovarian germ cell teratoma | Ovarian teratoma | TERATOMA, OVARIAN | Teratoma of Ovary | Teratoma of ovary | Teratoma of ovary (disorder) | Teratoma of the Ovary | ovarian germ cell teratoma | ovarian teratoma | ovarian teratomas | ovaries teratomas | ovary teratoma | ovary teratomas | ovary; teratoma | teratoma ovarian | teratoma ovarian cancer | teratoma ovary | teratoma, ovarian germ cell | teratoma; ovary HPO2016_07_04:The presence of a teratoma in the ovary. [HPO:probinson] | NCI2016_02D:A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor. HPO2016_07_04:HP:0012226|OMIM2016_04_17:166950|SNOMEDCT_US_2016_09_01:716077006 C0795875 Chromosome 21 monosomy 21 deletion syndrome | 21 monosomy syndrome | Chromosome 21 monosomy | Monosomy 21 | chromosome 21 deletion syndrome | chromosome 21 monosomy syndrome | chromosome G1 deletion syndrome | del(21) syndrome | monosomy 21 JABL99:The absence of one chromosome of one pair in an otherwise diploid chromosome 21. The syndrome is characterized by developmental retardation in association with craniofacial, skeletal, genital, cardiac, and other anomalies. The phenotype shares some similarities with the chromosome 21q deletion syndrome. MSH2017_2016_08_12:C537108 C2746066 Combined d-2- and l-2-hydroxyglutaric aciduria 2-Hga | 2-Hydroxyglutaric Aciduria | 2-Hydroxyglutaricaciduria | 2-hydroxyglutaric aciduria | 2-hydroxyglutaric aciduria (disorder) | COMBINED D-2- AND L-2 -HYDROXYGLUTARIC ACIDURIA | COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA | Combined D-2- and L-2-hydroxyglutaric aciduria | D-2-hydroxyglutaric aciduria | D2L2AD | L-2-Hydroxyglutaric Acidemia | L-2-hydroxyglutaric aciduria MSH2017_2016_08_12:C535306|OMIM2016_04_17:190315|OMIM2016_04_17:615182|SNOMEDCT_US_2016_09_01:698870008 C0015404 Eye infections, bacterial Bacterial Eye Infection | Bacterial Eye Infections | Bacterial Ocular Infection | Bacterial Ocular Infections | Bacterial eye infection | Bacterial eye infection (disorder) | Bacterial infection of eye | Bacterial infection of eye (disorder) | Eye Infection, Bacterial | Eye Infections, Bacterial | Eye Infections, Bacterial [Disease/Finding] | Eye infection bacterial | Eye infection bacterial NOS | Infection, Bacterial Eye | Infection, Bacterial Ocular | Infections, Bacterial Eye | Infections, Bacterial Ocular | Ocular Infection, Bacterial | Ocular Infections, Bacterial | bacterial eye infection | bacterial eye infections | bacterial eyes infection | bacterial infection of eye | eye infection bacterial | ocular bacterial infections MSH2017_2016_08_12:Infections in the inner or external eye caused by microorganisms belonging to several families of bacteria. Some of the more common genera found are Haemophilus, Neisseria, Staphylococcus, Streptococcus, and Chlamydia. MSH2017_2016_08_12:D015818|SNOMEDCT_US_2016_09_01:128984004|SNOMEDCT_US_2016_09_01:312120000 C3888924 Pompe's disease infantile onset Pompe's disease infantile onset C1336136 Stage ib large cell carcinoma of lung Stage IB Large Cell Carcinoma of Lung | Stage IB Large Cell Carcinoma of the Lung | Stage IB Large Cell Lung Carcinoma | Stage IB Large Cell Lung Carcinoma AJCC v7 NCI2016_02D:Stage IB includes: T2a, N0, M0. T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.) C0282527 Infantile refsum disease (disorder) ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | Disease, Infantile Refsum | Disease, Infantile Refsum's | INFANTILE PHYTANIC ACID STORAGE DISEASE | Infantile Form of Phytanic Acid Storage Disease | Infantile Phytanic Acid Storage Disease | Infantile Refsum Disease | Infantile Refsum Disease (disorder) | Infantile Refsum disease | Infantile Refsum's Disease | Infantile Refsum's disease | Infantile Refsum's disease (disorder) | Infantile Refsums Disease | PBD1B | PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | PEROXISOME BIOGENESIS DISORDER 1B | REFSUM DISEASE, INFANTILE | Refsum Disease, Infantile | Refsum Disease, Infantile Form | Refsum Disease, Infantile [Disease/Finding] | Refsum's Disease, Infantile | Refsums Disease, Infantile | infantile Refsum disease | infantile Refsum disease (diagnosis) | infantile refsum disease | infantile refsum's disease MSH2017_2016_08_12:An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES. | NCI2016_02D:A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation. ICD10CM_2017:G60.1|MSH2017_2016_08_12:D052919|OMIM2016_04_17:601539|OMIM2016_04_17:602136|SNOMEDCT_US_2016_09_01:238062008 C0030286 Pancreatic diseases DISEASES OF THE PANCREAS | DISORDER PANCREAS | Disease of pancreas | Disease of pancreas (disorder) | Disease of pancreas, NOS | Disease of pancreas, unspecified | Disease, Pancreatic | Disease;pancreas | Diseases and Syndromes of Pancreas | Diseases of pancreas | Diseases of pancreas NOS | Diseases of pancreas NOS (disorder) | Diseases, Pancreatic | Disorder of pancreas | Disorder of pancreas (disorder) | Disorder of pancreas, NOS | Disorder pancreas | PANCREAS DISEASE | PANCREAS DISORDER | PANCREATIC DISORDER | Pancreas | Pancreas disorder | Pancreas--Diseases | Pancreatic Disease | Pancreatic Diseases | Pancreatic Diseases [Disease/Finding] | Pancreatic Disorder | Pancreatic disease | Pancreatic disorder | Pancreatic disorder NOS | Unspecified disease of pancreas | disease (or disorder); pancreas | disease of the pancreas | disease pancreas | disease pancreatic | diseases of pancreas | diseases of the pancreas | diseases pancrea | diseases pancreas | diseases pancreatic | disorders pancreas | disorders pancreatic | of pancreas disease | pancreas disease | pancreas diseases | pancreas disorder | pancreatic disease | pancreatic diseases | pancreatic disorder | pancreatic disorders | pancreatic disorders (diagnosis) MEDLINEPLUS_20151021:The pancreas is a gland behind your stomach and in front of your spine. It produces juices that help break down food and hormones that help control blood sugar levels. Problems with the pancreas can lead to many health problems. These include
The pancreas also plays a role in diabetes. In type 1 diabetes, the beta cells of the pancreas no longer make insulin because the body's immune system has attacked them. In type 2 diabetes, the pancreas loses the ability to secrete enough insulin in response to meals.
| MSH2017_2016_08_12:Pathological processes of the PANCREAS. | NCI2016_02D:A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. HPO2016_07_04:HP:0001732|ICD10CM_2017:K86.9|ICD9CM_2014:577|ICD9CM_2014:577.9|MSH2017_2016_08_12:D010182|SNOMEDCT_US_2016_09_01:155833000|SNOMEDCT_US_2016_09_01:155836008|SNOMEDCT_US_2016_09_01:197469006|SNOMEDCT_US_2016_09_01:266546006|SNOMEDCT_US_2016_09_01:3855007 C0344423 Atrial flutter by ecg finding ATRIAL FLUTTER | Atrial Flutter | Atrial Flutter by ECG Finding | Atrial Flutter by EKG Finding | Atrial flutter | ECG atrial rhythms flutter | ECG: atrial flutter | ECG: atrial flutter (finding) | EKG: atrial flutter | Electrocardiogram: atrial flutter | Electrocardiogram: atrial flutter (finding) | Electrocardiographic atrial flutter | Electrocardiographic atrial flutter (finding) | electrocardiogram: atrial flutter | electrocardiogram: atrial flutter (procedure) NCI2016_02D:An electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth like pattern between the QRS complexes. (CDISC) | NCI2016_CDISC_1602D:An electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth like pattern between the QRS complexes. SNOMEDCT_US_2016_09_01:142050000|SNOMEDCT_US_2016_09_01:164890007 C2930888 Chromosome 20, duplication 20p Chromosome 20, duplication 20p | Duplication 20p | Trisomy 20p MSH2017_2016_08_12:C535371 C3554381 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 MDDGA10 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 | WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED OMIM2016_04_17:605862|OMIM2016_04_17:615041 C0027983 Newcastle disease Avian pneumoencephalitis | Disease, Newcastle | NEWCASTLE DISEASE | Newcastle (etiology) | Newcastle (manifestation) | Newcastle Disease | Newcastle Disease [Disease/Finding] | Newcastle disease | Newcastle disease (diagnosis) | Newcastle disease (disorder) | Newcastle disease [Ambiguous] | Newcastle fever | Newcastle's disease | Pseudo-fowlpest | disease (or disorder); Newcastle (etiology) | disease (or disorder); Newcastle (manifestation) | newcastle disease MSH2017_2016_08_12:An acute febrile, contagious, viral disease of birds caused by an AVULAVIRUS called NEWCASTLE DISEASE VIRUS. It is characterized by respiratory and nervous symptoms in fowl and is transmissible to man causing a severe, but transient conjunctivitis. MSH2017_2016_08_12:D009521|SNOMEDCT_US_2016_09_01:155162002|SNOMEDCT_US_2016_09_01:231859001|SNOMEDCT_US_2016_09_01:258300000|SNOMEDCT_US_2016_09_01:267734002|SNOMEDCT_US_2016_09_01:89366008 C1865974 Hypomagnesemia 1, intestinal Familial primary hypomagnesaemia with hypocalcuria | Familial primary hypomagnesemia with hypocalcuria | HOMG | HOMG1 | HSH | HYPOMAGNESEMIA 1, INTESTINAL | HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA | HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA | Hypomagnesaemia with secondary hypocalcaemia | Hypomagnesemia 1, Intestinal | Hypomagnesemia with Secondary Hypocalcemia | Hypomagnesemia with secondary hypocalcemia | Hypomagnesemia with secondary hypocalcemia (disorder) | Hypomagnesemia, Intestinal, with Secondary Hypocalcemia | Hypomagnesemic tetany | Intestinal hypomagnesaemia 1 | Intestinal hypomagnesaemia with secondary hypocalcaemia | Intestinal hypomagnesemia 1 | Intestinal hypomagnesemia with secondary hypocalcemia MSH2017_2016_08_12:C566593|OMIM2016_04_17:602014|OMIM2016_04_17:607009|SNOMEDCT_US_2016_09_01:711151004 C1849292 Precociously ossified carpal bones Accelerated carpal bone maturation | Advanced carpal bone age | Advanced carpal ossification | Advanced ossification of carpal bones | Precociously ossified carpal bones HPO2016_07_04:Ossification of carpal bones at an abnormally early age. [HPO:probinson] HPO2016_07_04:HP:0004233|OMIM2016_04_17:MTHU009547|OMIM2016_04_17:MTHU013303|OMIM2016_04_17:MTHU013888|OMIM2016_04_17:MTHU023206 C0496775 Malignant neoplasm of abdominal part of esophagus Mal tum abdom part esophagus | Mal tum abdom part oesophagus | Malig neop abdominal oesophag | Malignant Neoplasm of Abdominal Esophagus | Malignant Neoplasm of the Abdominal Esophagus | Malignant Tumor of Abdominal Esophagus | Malignant Tumor of the Abdominal Esophagus | Malignant neoplasm of abdominal esophagus | Malignant neoplasm of abdominal oesophagus | Malignant neoplasm of abdominal part of esophagus | Malignant neoplasm of abdominal part of oesophagus | Malignant tumor of abdominal part of esophagus | Malignant tumor of abdominal part of esophagus (disorder) | Malignant tumour of abdominal part of oesophagus | malignant neoplasm of abdominal esophagus | malignant neoplasm of abdominal esophagus (diagnosis) | malignant tumor of abdominal esophagus NCI2016_02D:A primary or metastatic malignant neoplasm involving the abdominal region of the esophagus. ICD9CM_2014:150.2|SNOMEDCT_US_2016_09_01:187724003|SNOMEDCT_US_2016_09_01:93656003 C4280528 Thick skull bones Thick skull bones HPO2016_07_04:HP:0004437 C0158178 Palindromic rheum.-shoulder Palindromic rheum.-shoulder | Palindromic rheumatism involving shoulder region | Palindromic rheumatism of the shoulder region | Palindromic rheumatism of the shoulder region (disorder) | Palindromic rheumatism, shoulder region | intermittent hydrarthrosis of shoulder | palindromic rheumatism of the shoulder region | palindromic rheumatism of the shoulder region (diagnosis) ICD9CM_2014:719.31|SNOMEDCT_US_2016_09_01:202457009 C2675993 Pancreatic squamous cell carcinoma Pancreatic squamous cell carcinoma | Squamous cell carcinoma of the pancreas | squamous cell carcinoma of pancreas | squamous cell carcinoma of pancreas (diagnosis) HPO2016_07_04:A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium. [HPO:probinson, pmid:19079631] HPO2016_07_04:HP:0012142|OMIM2016_04_17:MTHU022271 C0796081 Growth mental deficiency syndrome of myhre Facial dysmorphism, intellectual deficit, short stature and hearing loss | GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE | Growth mental deficiency syndrome of Myhre | Growth-mental deficiency syndrome of Myhre | LAPS SYNDROME | LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | Laps Syndrome | Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature | Laryngotracheal stenosis, arthropathy, prognathism and short stature | MYHRE SYNDROME | MYHRS | Myhre Syndrome | Myhre syndrome | Myhre syndrome (disorder) JABL99:Mental retardation, growth deficiency, midfacial hypoplasia, hearing loss, generalized muscular hypertrophy, joint limitation, and skeletal abnormalities are the cardinal features of this syndrome. See also Myhre-GOMBO syndrome. | NCI2016_02D:A rare, autosomal dominant inherited disorder caused by mutations in the SMAD4 gene. It is characterized by developmental abnormalities, mild to moderate intellectual disability, hearing loss, skin stiffness, skeletal abnormalities, and typical facial features (short palpebral fissures, shortened distance between the nose and upper lip, midface hypoplasia, prognathism, cleft palate, and/or cleft lip). MSH2017_2016_08_12:C537620|OMIM2016_04_17:139210|OMIM2016_04_17:600993|SNOMEDCT_US_2016_09_01:699316006 C0037932 Curvature of spine CURVATURE OF SPINE | Curvature - spine | Curvature of spine | Curvature of spine (disorder) | Curvature of spine NOS | Curvature of spine NOS (disorder) | Curvature of spine unspecified | Curvature of spine, NOS | Curvature of spine, unspecified | Curvature of spine, unspecified (disorder) | Curvature, Spinal | Curvatures, Spinal | Curved spine | Idiopathic curvature of spine NOS | SPINE CURVATURE | Spinal Curvature | Spinal Curvatures | Spinal Curvatures [Disease/Finding] | Unspecified curvature of spine | curvature of spine | curvature of spine (diagnosis) | curvature spinal | curvature spine | curvature; spine | spinal curvature | spinal curvatures | spine curvature | spine; curvature MSH2017_2016_08_12:Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS). HPO2016_07_04:HP:0002650|ICD10CM_2017:M43.9|ICD9CM_2014:737|MSH2017_2016_08_12:D013121|SNOMEDCT_US_2016_09_01:156873001|SNOMEDCT_US_2016_09_01:203626009|SNOMEDCT_US_2016_09_01:203651005|SNOMEDCT_US_2016_09_01:203670000|SNOMEDCT_US_2016_09_01:203672008|SNOMEDCT_US_2016_09_01:268139000|SNOMEDCT_US_2016_09_01:64217002 C0006181 Brill disease BRILL DISEASE | BRILL-ZINSSER DISEASE | Brill | Brill Disease | Brill Zinsser Disease | Brill Zinsser disease | Brill Zinsser disease (diagnosis) | Brill's Disease | Brill's disease | Brill-Zinsser Disease | Brill-Zinsser disease | Brill-Zinsser disease (disorder) | Brills Disease | Disease, Brill | Disease, Brill's | Disease, Brill-Zinsser | RECRUDESCENT TYPHUS | Recrudescent typhus | Recrudescent typhus [Brill's disease] | Recrudescent typhus due to Rickettsia prowazekii | Recrudescent typhus fever | Rickettsia; prowazekii, typhus, recrudescent [Brill-Zinsser] | TYPHUS, RECRUDESCENT | Zinsser | prowazekii; Rickettsia prowazekii, typhus, recrudescent [Brill-Zinsser] | recrudescent [Brill-Zinsser]; typhus | recrudescent [Brill-Zinsser]; typhus, due to Rickettsia prowazekii | typhus; Rickettsia prowazekii, recrudescent [Brill-Zinsser] | typhus; recrudescent [Brill-Zinsser] | typhus; recrudescent [Brill-Zinsser], due to Rickettsia prowazekii ICD10CM_2017:A75.1|ICD9CM_2014:081.1|MSH2017_2016_08_12:D014438|SNOMEDCT_US_2016_09_01:47761007 C4280284 Small, pointed teeth Small, pointed teeth HPO2016_07_04:HP:0200141 C1333062 Classic variant of chromophobe renal cell carcinoma Classic Variant of Chromophobe Renal Cell Carcinoma C0344530 Congenital keratoglobus (Congenital megalocornea) or (enlarged cornea) or (congenital macrocornea) | (Congenital megalocornea) or (enlarged cornea) or (congenital macrocornea) (disorder) | Anterior megalophthalmos | Congenital keratoglobus | Congenital keratoglobus (disorder) | Congenital macrocornea | Congenital megalocornea | Cornea enlarged | Cornea globular | Cornea globular (disorder) | Enlarged cornea | Keratoglobus | Keratoglobus (disorder) | MEGALOCORNEA | MGC1 | MGCN | MGCN - Megalocornea | Macrocornea | Megalocornea | Megalocornea (disorder) | congenital; keratoglobus | keratoglobus | keratoglobus; congenital | macrocornea | megalocornea HPO2016_07_04:An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. [HPO:curators] HPO2016_07_04:HP:0000485|MSH2017_2016_08_12:C562829|OMIM2016_04_17:249300|OMIM2016_04_17:300350|OMIM2016_04_17:309300|OMIM2016_04_17:MTHU009481|SNOMEDCT_US_2016_09_01:204118005|SNOMEDCT_US_2016_09_01:204119002|SNOMEDCT_US_2016_09_01:268158009|SNOMEDCT_US_2016_09_01:388840007|SNOMEDCT_US_2016_09_01:39978004 C0393538 Muscular atrophy, spinal, type ii Late infantile spinal muscular atrophy | MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE | Muscular Atrophy, Spinal, Type II | SMA II | SMA2 | SPINAL MUSCULAR ATROPHY, TYPE II | Spinal Muscular Atrophy Type 2 | Spinal Muscular Atrophy Type II | Spinal Muscular Atrophy, Type II | Spinal muscular atrophy type II | Spinal muscular atrophy, type II | Spinal muscular atrophy, type II (disorder) | Type II Spinal Muscular Atrophy | atrophy; muscle, spinal, of childhood, type II | muscle; atrophy, spinal, of childhood, type II | sma2 | spinal muscular atrophy type ii MSH2017_2016_08_12:D014897|OMIM2016_04_17:253550|OMIM2016_04_17:600354|SNOMEDCT_US_2016_09_01:128212001 C2697932 Loeys-dietz syndrome Loeys Dietz Syndrome | Loeys-Dietz Syndrome | Loeys-Dietz Syndrome [Disease/Finding] | Loeys-Dietz syndrome | Loeys-Dietz syndrome (disorder) | Syndrome, Loeys-Dietz | loeys-dietz syndrome (diagnosis) MSH2017_2016_08_12:An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME. | NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the TGFBR1 or TGFBR2 genes. It is characterized by vascular abnormalities including aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries. Other findings include scoliosis, long fingers, and joint hypermobility. Patients with TGFBR1 gene mutations also exhibit hypertelorism, bifid uvula, and early fusion of the skull bones. MSH2017_2016_08_12:D055947|SNOMEDCT_US_2016_09_01:446263001 C0272052 Rh deficiency syndrome RH DEFICIENCY SYNDROME | Rh Deficiency Syndrome | Rh deficiency syndrome | Rh deficiency syndrome (disorder) | Rhesus deficiency syndrome MSH2017_2016_08_12:C562717|OMIM2016_04_17:268150|SNOMEDCT_US_2016_09_01:37272000 C4014283 Cortical dysplasia, complex, with other brain malformations 6 CDCBM6 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 OMIM2016_04_17:191130|OMIM2016_04_17:615771 C1837541 Spinocerebellar ataxia 20 CHROMOSOME 11q12 DUPLICATION SYNDROME, 260-KB | SCA20 | SPINOCEREBELLAR ATAXIA 20 | SPINOCEREBELLAR ATAXIA WITH DYSPHONIA | SPINOCEREBELLAR ATAXIA WITH SPASMODIC COUGH | Spinocerebellar Ataxia With Dysphonia | Spinocerebellar Ataxia With Spasmodic Cough | Spinocerebellar ataxia 20 | Spinocerebellar ataxia type 20 MSH2017_2016_08_12:C537199|OMIM2016_04_17:608687 C4025245 Ekg: t-wave abnormalities EKG: T-wave abnormalities HPO2016_07_04:An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles. [HPO:probinson] HPO2016_07_04:HP:0005135 C0346340 Adenoid cystic carcinoma of lacrimal gland Adenoid Cystic Carcinoma of Lacrimal Gland | Adenoid Cystic Carcinoma of the Lacrimal Gland | Adenoid cystic carcinoma of lacrimal gland | Adenoid cystic carcinoma of lacrimal gland (disorder) | Lacrimal Gland Adenoid Cystic Carcinoma | adenoid cystic carcinoma of lacrimal gland | adenoid cystic carcinoma of lacrimal gland (diagnosis) | lacrimal gland malignant carcinoma adenoid cystic SNOMEDCT_US_2016_09_01:254987003 C2675481 Colorectal cancer, susceptibility to, 10 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q | CRCS10 OMIM2016_04_17:174761|OMIM2016_04_17:612591 C0159104 Electrooculogram abnormal Abnormal EOG | Abnormal electro-oculogram [EOG] | Abnormal electrooculogram | Electro-oculogram abnormal | Electrooculogram abnormal | Electrooculogram abnormal (finding) | Nonspecific abnormal EOG | Nonspecific abnormal electro-oculogram | Nonspecific abnormal electro-oculogram (eog) | Nonspecific abnormal electro-oculogram [EOG] | [D]Electro-oculogram abnormal | [D]Electro-oculogram abnormal (context-dependent category) | [D]Electro-oculogram abnormal (situation) | abnormal; electro-oculogram | electro-oculogram; abnormal HPO2016_07_04:The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation. [pmid:21298321] HPO2016_07_04:HP:0030454|ICD10CM_2017:R94.110|ICD9CM_2014:794.12|SNOMEDCT_US_2016_09_01:158635008|SNOMEDCT_US_2016_09_01:207445005|SNOMEDCT_US_2016_09_01:442770004 C1266121 Myofibroma (morphologic abnormality) Lipoleiomyoma | Myofibroma | Myofibroma (morphologic abnormality) | Myofibroma [Disease/Finding] | Myofibromas | myofibroma MSH2017_2016_08_12:A benign tumor that consists chiefly of fibrous CONNECTIVE TISSUE, with variable numbers of MUSCLE CELLS forming portions of the neoplasm (From Stedman's, 27th ed). MSH2017_2016_08_12:D047708|SNOMEDCT_US_2016_09_01:128917003|SNOMEDCT_US_2016_09_01:44598004 C0752143 Intracranial thrombosis Intracranial Thromboses | Intracranial Thrombosis | Intracranial Thrombosis [Disease/Finding] | Intracranial Thrombus | Intracranial thrombosis | Thromboses, Intracranial | Thrombosis, Intracranial | Thrombus, Intracranial | intracranial; thrombosis | thrombosis; intracranial MSH2017_2016_08_12:Formation or presence of a blood clot (THROMBUS) in a blood vessel within the SKULL. Intracranial thrombosis can lead to thrombotic occlusions and BRAIN INFARCTION. The majority of the thrombotic occlusions are associated with ATHEROSCLEROSIS. MSH2017_2016_08_12:D020767|OMIM2016_04_17:MTHU021344 C0340312 Lateral myocardial infarct nos Lateral myocardial infarct NOS | Lateral myocardial infarction | Lateral myocardial infarction NOS | Lateral myocardial infarction NOS (disorder) SNOMEDCT_US_2016_09_01:194801005 C1855568 Jerky head movements Jerking head movements | Jerky head movements HPO2016_07_04:HP:0006961|OMIM2016_04_17:MTHU011933 C0023646 Lichen planus LICHEN PLANUS | LICHEN RUBER PLANUS | LP - Lichen planus | Lichen Planus | Lichen Planus [Disease/Finding] | Lichen Ruber Planus | Lichen Rubra Planus | Lichen planus | Lichen planus (disorder) | Lichen planus NOS | Lichen planus NOS (disorder) | Lichen planus, unspecified | Lichen, ruber planus | Ruber planus | Wilson; lichen ruber | lichen planus | lichen planus (diagnosis) | lichen ruber planus | lichen ruber; Wilson | lichen; planus | lichen; planus, of Wilson | lichen; ruber planus | planus; lichen | planus; lichen ruber planus | planus; lichen, of Wilson | ruber; lichen ruber planus CSP2006:inflammatory, pruritic disease of the skin and mucous membranes, which can be either generalized or localized; characterized by distinctive purplish, flat-topped papules having a predilection for the trunk and flexor surfaces; lesions may be discrete or coalesce to form plaques. | MSH2017_2016_08_12:An inflammatory, pruritic disease of the skin and mucous membranes, which can be either generalized or localized. It is characterized by distinctive purplish, flat-topped papules having a predilection for the trunk and flexor surfaces. The lesions may be discrete or coalesce to form plaques. Histologically, there is a "saw-tooth" pattern of epidermal hyperplasia and vacuolar alteration of the basal layer of the epidermis along with an intense upper dermal inflammatory infiltrate composed predominantly of T-cells. Etiology is unknown. | NCI2016_02D:A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus. ICD10CM_2017:L43|ICD10CM_2017:L43.9|ICD9CM_2014:697.0|MSH2017_2016_08_12:D008010|SNOMEDCT_US_2016_09_01:156377007|SNOMEDCT_US_2016_09_01:201004002|SNOMEDCT_US_2016_09_01:4776004 C1852513 Coxoauricular syndrome COXOAURICULAR SYNDROME | Coxoauricular Syndrome MSH2017_2016_08_12:C565148|OMIM2016_04_17:122780 C3541456 Spondyloepiphyseal dysplasia tarda, x-linked Late Onset Spondyloepiphyseal Dysplasia | Late Spondyloepiphyseal Dysplasia | Late-Onset Spondyloepiphyseal Dysplasia | SED TARDA, X-LINKED | SED Tarda | SED, X-Linked | SEDT | SEDT - Spondyloepiphyseal dysplasia tarda | SEDT, X-Linked | SPONDYLOEPIPHYSEAL DYSPLASIA TARDA | SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED | SPONDYLOEPIPHYSEAL DYSPLASIA, LATE | Spondyloepiphyseal Dysplasia Tarda, X Linked | Spondyloepiphyseal Dysplasia Tarda, X-Linked | Spondyloepiphyseal Dysplasia, Late | Spondyloepiphyseal Dysplasia, Late-Onset | Spondyloepiphyseal dysplasia tarda | Spondyloepiphyseal dysplasia tarda (disorder) | X Linked SED | X Linked SEDT | X Linked Spondyloepiphyseal Dysplasia Tarda | X-Linked SED | X-Linked SEDT | X-Linked Spondyloepiphyseal Dysplasia Tarda | X-linked spondyloepiphyseal dysplasia | X-linked spondyloepiphyseal dysplasia tarda MSH2017_2016_08_12:D010009|OMIM2016_04_17:300202|OMIM2016_04_17:313400|SNOMEDCT_US_2016_09_01:51952004 C1879338 Bereavement, life event Bereavement | Bereavement (life event - finding) | Bereavement due to life event | Bereavement due to life event (finding) | Bereavement reaction | Bereavement, life event (finding) | Mourning | bereavement SNOMEDCT_US_2016_09_01:74506000 C0027726 Nephrotic syndrome -- Nephrotic Syndrome | NEPHROTIC SYNDROME | NS - Nephrotic syndrome | Nephrosis | Nephrotic Syndrome | Nephrotic Syndrome [Disease/Finding] | Nephrotic Syndromes | Nephrotic syndrome | Nephrotic syndrome (disorder) | Nephrotic syndrome NOS | Nephrotic syndrome NOS (disorder) | Nephrotic syndrome, NOS | Nephrotic syndrome, unspecified | SYNDROME NEPHROTIC | Syndrome nephrotic | Syndrome, Nephrotic | Syndromes, Nephrotic | nephrotic syndrome | nephrotic syndrome (diagnosis) | nephrotic; syndrome | syndrome; nephrotic AIR93:Nephrotic Syndrome: twenty-four hour urine protein > three grams. May be associated with hypoalbuminemia and hypercholesterolemia. | CHV2011_02:a kidney disease characterized by a high protein level in urine | CSP2006:diseases involving defective kidney glomeruli, characterized by massive proteinuria and lipiduria with varying degrees of edema, hypoalbuminemia, and hyperlipidemia. | HPO2016_07_04:Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. [HPO:probinson] | MSH2017_2016_08_12:A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction. | NCI2016_02D:A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. | NCI2016_NICHD_1602D:A syndrome characterized by proteinuria, hypoalbuminemia, and varying degrees of edema, and possibly hypercholesteremia. HPO2016_07_04:HP:0000100|ICD10CM_2017:N04|ICD9CM_2014:581|MSH2017_2016_08_12:D009404|OMIM2016_04_17:MTHU036764|SNOMEDCT_US_2016_09_01:155851004|SNOMEDCT_US_2016_09_01:197611005|SNOMEDCT_US_2016_09_01:52254009 C4022253 Fragmented epiphyses Fragmented end part of bone | Fragmented epiphyses HPO2016_07_04:Fragmented appearance of the epiphyses. [HPO:sdoelken] HPO2016_07_04:HP:0100168 C0023434 Chronic lymphocytic leukemia B Cell CLL | B Cell Chronic Lymphocytic Leukemia | B Cell Leukemia, Chronic | B Cell Lymphocytic Leukemia | B Lymphocytic Leukemia, Chronic | B cell chronic lymphocytic leukemia | B-CLL - B-cell chronic lymphocytic leukaemia | B-CLL - B-cell chronic lymphocytic leukemia | B-Cell CLL | B-Cell Chronic Lymphocytic Leukemia | B-Cell Chronic Lymphogenous Leukemia | B-Cell Chronic Lymphoid Leukemia | B-Cell Leukemia, Chronic | B-Cell Leukemias, Chronic | B-Cell Lymphocytic Leukemia | B-Cell Malignancy, Low-Grade | B-Lymphocytic Leukemia, Chronic | B-Lymphocytic Leukemias, Chronic | B-cell CLL | B-cell chronic lymphocytic leukaemia | B-cell chronic lymphocytic leukaemia/small lymphocytic lymphoma | B-cell chronic lymphocytic leukemia | B-cell chronic lymphocytic leukemia (disorder) | B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma | B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality) | BCLL | CHRONIC LYMPHOCYTIC LEUKEMIA | CLL | CLL (chronic lymphocytic leukemia) | CLL - Chronic lymphocytic leukaemia | CLL - Chronic lymphocytic leukemia | CLL Lymphoplasmacytoid Lymphoma | CLL Lymphoplasmacytoid Lymphomas | CLL, B-cell | Chronic B-Cell Leukemia | Chronic B-Cell Leukemias | Chronic B-Cell Lymphocytic Leukemia | Chronic B-Lymphocytic Leukemia | Chronic B-Lymphocytic Leukemias | Chronic Lymphatic Leukemia | Chronic Lymphoblastic Leukemia | Chronic Lymphoblastic Leukemias | Chronic Lymphocytic Leukemia | Chronic Lymphocytic Leukemias | Chronic Lymphogenous Leukemia | Chronic lymphatic leukaemia | Chronic lymphatic leukemia | Chronic lymphocytic leukaemia | Chronic lymphocytic leukaemia NOS | Chronic lymphocytic leukaemia, B-cell type | Chronic lymphocytic leukemia | Chronic lymphocytic leukemia NOS | Chronic lymphocytic leukemia of B-cell type | Chronic lymphocytic leukemia of B-cell type NOS | Chronic lymphocytic leukemia, B-cell type | Chronic lymphocytic leukemia, NOS | Chronic lymphocytic leukemia, morphology (morphologic abnormality) | Chronic lymphoid leukaemia | Chronic lymphoid leukaemia, disease | Chronic lymphoid leukemia | Chronic lymphoid leukemia, disease | Chronic lymphoid leukemia, disease (disorder) | Diffuse Well Differentiated Lymphocytic Lymphoma | Diffuse Well-Differentiated Lymphocytic Lymphoma | Disrupted In B-Cell Malignancy | Hematopoeitic - Chronic Lymphocytic Leukemia (CLL) | LEUKEMIA CHRONIC LYMPHOCYTIC | LEUKEMIA LYMPHOCYTIC CHRONIC | LEUKEMIA, CHRONIC LYMPHATIC | LEUKEMIA, CHRONIC LYMPHOCYTIC | LEUKEMIA, LYMPHOCYTIC, CHRONIC | Leukaemia lymphocytic chronic | Leukaemia;chronic lymphocytic | Leukaemias chronic lymphocytic | Leukemia lymphocytic chronic | Leukemia, B Cell, Chronic | Leukemia, B-Cell, Chronic | Leukemia, Chronic B-Cell | Leukemia, Chronic B-Lymphocytic | Leukemia, Chronic Lymphatic | Leukemia, Chronic Lymphocytic | Leukemia, Chronic Lymphocytic, B-Cell | Leukemia, Lymphoblastic, Chronic | Leukemia, Lymphocytic, Chronic | Leukemia, Lymphocytic, Chronic, B Cell | Leukemia, Lymphocytic, Chronic, B-Cell | Leukemia, Lymphocytic, Chronic, B-Cell [Disease/Finding] | Leukemia, chronic lymphocytic (CLL) | Leukemias chronic lymphocytic | Leukemias, Chronic B-Cell | Leukemias, Chronic B-Lymphocytic | Leukemias, Chronic Lymphoblastic | Lymphoblastic Leukemia, Chronic | Lymphoblastic Leukemias, Chronic | Lymphocytic Leukemia, Chronic | Lymphocytic Leukemia, Chronic, B Cell | Lymphocytic Leukemia, Chronic, B-Cell | Lymphocytic Leukemias, Chronic | Lymphocytic Lymphoma | Lymphocytic Lymphoma, Diffuse, Well Differentiated | Lymphocytic Lymphoma, Diffuse, Well-Differentiated | Lymphocytic Lymphoma, Small | Lymphocytic Lymphoma, Well Differentiated | Lymphocytic Lymphoma, Well-Differentiated | Lymphocytic Lymphomas | Lymphocytic Lymphomas, Small | Lymphocytic Lymphomas, Well-Differentiated | Lymphocytic lymphoma | Lymphoid leukaemia, chronic | Lymphoid leukemia, chronic | Lymphoma, CLL Lymphoplasmacytoid | Lymphoma, Lymphocytic | Lymphoma, Lymphocytic, Diffuse, Well Differentiated | Lymphoma, Lymphocytic, Diffuse, Well-Differentiated | Lymphoma, Lymphocytic, Well Differentiated | Lymphoma, Lymphocytic, Well-Differentiated | Lymphoma, Lymphoplasmacytoid, CLL | Lymphoma, Small Cell | Lymphoma, Small Lymphocytic | Lymphoma, Small Lymphocytic, Plasmacytoid | Lymphoma, Small-Cell | Lymphoma, Well-Differentiated Lymphocytic | Lymphomas, CLL Lymphoplasmacytoid | Lymphomas, Lymphocytic | Lymphomas, Small Lymphocytic | Lymphomas, Small-Cell | Lymphomas, Well-Differentiated Lymphocytic | Lymphoplasmacytoid Lymphoma, CLL | Lymphoplasmacytoid Lymphomas, CLL | Small Cell Lymphoma | Small Lymphocytic Lymphoma | Small Lymphocytic Lymphomas | Small-Cell Lymphoma | Small-Cell Lymphomas | Well-Differentiated Lymphocytic Lymphoma | Well-Differentiated Lymphocytic Lymphomas | [M]Chronic lymphoid leukaemia | [M]Chronic lymphoid leukaemia (disorder) | [M]Chronic lymphoid leukemia | b cell leukemia | b cell lymphocytic leukemia | b chronic lymphocytic leukemia | b-cell cll | b-cell leukemia | chronic B-cell lymphocytic leukemia | chronic B-cell lymphocytic leukemia (CLL) | chronic B-cell lymphocytic leukemia (diagnosis) | chronic leukemia lymphocytic | chronic lymphatic leukaemia | chronic lymphatic leukemia | chronic lymphoblastic leukemia | chronic lymphocytic leukaemia | chronic lymphocytic leukemia | chronic lymphocytic leukemia (cll) | chronic lymphocytic leukemia (diagnosis) | chronic lymphocytic leukemia, B-cell | chronic lymphogenous leukemia | chronic lymphoid leukemia | cll | cll chronic lymphocytic leukemia | clls | leukemia b cell | leukemia chronic lymphocytic | leukemia lymphocytic chronic (CLL) | leukemia, B-cell chronic lymphocytic | leukemia, chronic lymphocytic | leukemia; lymphatic, chronic | lymphatic; leukemia, chronic | lymphocytic leukemia chronic | lymphocytic leukemia, B-cell chronic | lymphocytic leukemia, chronic CSP2006:chronic leukemia characterized by morphologically mature but immunologically less mature lymphocytes; manifested by an abnormal accumulation of these cells in blood, bone marrow, and lymphatic tissue. | HPO2016_07_04:A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias. [HPO:curators] | MEDLINEPLUS_20151021:Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In chronic lymphocytic leukemia (CLL), there are too many lymphocytes, a type of white blood cell.
CLL is the second most common type of leukemia in adults. It often occurs during or after middle age, and is rare in children.
Usually CLL does not cause any symptoms. If you have symptoms, they may include
Tests that examine the blood, bone marrow, and lymph nodes diagnose CLL. Your doctor may choose to just monitor you until symptoms appear or change. Treatments include radiation therapy, chemotherapy, surgery to remove the spleen, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells.
NIH: National Cancer Institute
| MSH2017_2016_08_12:A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease. | NCI2016_02D:The most common type of chronic lymphoid leukemia. It comprises 90% of chronic lymphoid leukemias in the United States. Morphologically, the neoplastic cells are small, round B-lymphocytes. This type of leukemia is not considered to be curable with available therapy. (WHO, 2001) | NCI2016_NCI-GLOSS_1602D:An indolent (slow-growing) cancer in which too many immature lymphocytes (white blood cells) are found mostly in the blood and bone marrow. Sometimes, in later stages of the disease, cancer cells are found in the lymph nodes and the disease is called small lymphocytic lymphoma. HPO2016_07_04:HP:0005550|ICD10CM_2017:C91.1|ICD10CM_2017:C91.10|ICD9CM_2014:204.1|MSH2017_2016_08_12:D015451|OMIM2016_04_17:151400|OMIM2016_04_17:MTHU020407|OMIM2016_04_17:MTHU027190|SNOMEDCT_US_2016_09_01:154589005|SNOMEDCT_US_2016_09_01:277473004|SNOMEDCT_US_2016_09_01:51092000|SNOMEDCT_US_2016_09_01:92814006 C1849438 Renal dysplasia-limb defects syndrome RENAL DYSPLASIA-LIMB DEFECTS SYNDROME | RL SYNDROME | Renal Dysplasia-Limb Defects Syndrome | Renal dysplasia - limb defects syndrome | Renal dysplasia, mesomelia, and radiohumeral fusion | Ulbright Hodes syndrome MSH2017_2016_08_12:C537754|OMIM2016_04_17:266910 C4021093 Decreased serum complement c9 Decreased serum C9 | Decreased serum complement C9 HPO2016_07_04:HP:0012308 C4014676 Ataxia-telangiectasia-like disorder 2 ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 | ATLD2 OMIM2016_04_17:615919 C0554468 Chronic lichenified atopic dermatitis Chronic lichenified atopic dermatitis | Chronic lichenified atopic dermatitis (disorder) | Chronic lichenified atopic eczema SNOMEDCT_US_2016_09_01:309461001 C0005745 Blepharoptosis BLEPHAROPTOSIS | Blepharoptoses | Blepharoptosis | Blepharoptosis [Disease/Finding] | Drooping eyelid | Drooping upper eyelid | Drooping;eyelid | Droopy eyelid | Droopy eyelids | EYELID PTOSIS | Eyelid Ptoses | Eyelid Ptosis | Eyelid ptosis | PTOSIS | Ptoses, Eyelid | Ptosis | Ptosis eyelid | Ptosis of eyelid | Ptosis of eyelid (disorder) | Ptosis of eyelid NOS | Ptosis of eyelid NOS (disorder) | Ptosis of eyelid, NOS | Ptosis of eyelid, unspecified | Ptosis, Eyelid | Ptosis;eyelid | Unspecified ptosis of eyelid | Unspecified ptosis of eyelid (disorder) | Unspecified ptosis of unspecified eyelid | Upper eyelid drooped | blepharoptosis | drooped eyelid | drooping eyelid | drooping eyelid (symptom) | droopy eyelid | droopy eyelids | eyelid droop | eyelid drooping | eyelid ptosis | eyelid; ptosis | eyelids ptosis | ptosis | ptosis (physical finding) | ptosis of eyelid | ptosis of eyelid (diagnosis) | ptosis; eyelid HPO2016_07_04:The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). [pmid:19125427] | MSH2017_2016_08_12:Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle. | NCI2016_02D:The drooping of the upper eyelid. | NCI2016_NCI-GLOSS_1602D:Drooping of the upper eyelid. | NCI2016_NICHD_1602D:The drooping of the upper eyelid. HPO2016_07_04:HP:0000508|ICD10CM_2017:H02.4|ICD10CM_2017:H02.40|ICD10CM_2017:H02.409|ICD9CM_2014:374.3|ICD9CM_2014:374.30|MSH2017_2016_08_12:D001763|OMIM2016_04_17:MTHU000509|OMIM2016_04_17:MTHU000860|OMIM2016_04_17:MTHU038613|OMIM2016_04_17:MTHU039308|SNOMEDCT_US_2016_09_01:11934000|SNOMEDCT_US_2016_09_01:155179008|SNOMEDCT_US_2016_09_01:193942002|SNOMEDCT_US_2016_09_01:193943007|SNOMEDCT_US_2016_09_01:193945000|SNOMEDCT_US_2016_09_01:204197004 C1836688 Narrow iliac wings Narrow iliac wings HPO2016_07_04:Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). [HPO:probinson] HPO2016_07_04:HP:0002868|OMIM2016_04_17:MTHU001196 C1839454 Properdin deficiency, x-linked CFPD | COMPLEMENT FACTOR PROPERDIN DEFICIENCY | PFD | PROPERDIN DEFICIENCY, TYPE I | PROPERDIN DEFICIENCY, X-LINKED | PROPERDIN P FACTOR DEFICIENCY | Properdin Deficiency, Type I | Properdin P factor deficiency | Properdin deficiency, X-linked | Properdin deficiency, type 1 MSH2017_2016_08_12:C537241|OMIM2016_04_17:300383|OMIM2016_04_17:312060 C1855102 Methylmalonic aciduria cblb type METHYLMALONIC ACIDEMIA, cblB TYPE | METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE | METHYLMALONIC ACIDURIA, cblB TYPE | Methylmalonic Acidemia, cblB Type | Methylmalonic Aciduria, cblB Type | Methylmalonic acidemia cblB type | Methylmalonic aciduria cblB type MSH2017_2016_08_12:C537361|OMIM2016_04_17:251110|OMIM2016_04_17:607568 C0206640 Ossifying fibroma Cementifying Fibroma | Cementifying fibroma | Cementifying fibroma (calcified structure) | Cementifying fibroma, calcified structure | Cementifying fibroma, calcified structure (morphologic abnormality) | Cemento-Ossifying Fibroma | Cemento-ossifying fibroma | Cemento-ossifying fibroma (morphologic abnormality) | FIBROMA, OSSIFYING, BENIGN | Fibro-osteoma | Fibro-osteoma (disorder) | Fibroma, Ossifying | Fibroma, Ossifying [Disease/Finding] | Fibromas, Ossifying | Ossifying Fibroma | Ossifying Fibromas | Ossifying fibroma | Ossifying fibroma (calcified structure) | Ossifying fibroma (morphologic abnormality) | Ossifying fibroma, calcified structure | Ossifying fibroma, calcified structure (morphologic abnormality) | fibro osteoma | fibro-osteoma | fibroma ossified | ossifying fibroma | ossifying fibromas HPO2016_07_04:A benign central bone tumor composed of fibrous connective tissue within which bone is formed. [HPO:probinson] | MSH2017_2016_08_12:A benign central bone tumor, usually of the jaws (especially the mandible), composed of fibrous connective tissue within which bone is formed. | NCI2016_02D:A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated. | NCI2016_CDISC_1602D:A benign fibrous neoplasm characterized by a mineralized component (woven bone, lamellar bone, or cementum-like material). HPO2016_07_04:HP:0030426|MSH2017_2016_08_12:D018214|SNOMEDCT_US_2016_09_01:189896007|SNOMEDCT_US_2016_09_01:25603007|SNOMEDCT_US_2016_09_01:302862001|SNOMEDCT_US_2016_09_01:302863006|SNOMEDCT_US_2016_09_01:80699009 C0154191 Glucagon secret.abnormal. nos Abnormality of glucagon secretion | Abnormality of secretion of glucagon | Abnormality of secretion of glucagon (disorder) | Abnormality of secretion of glucagon, NOS | Glucagon secret.abnormal. NOS | Glucagon secretion abnormality NOS | Glucagon secretion abnormality NOS (disorder) | Glucagon secretion disorder | Glucagon secretion disorder NOS | abnormal; glucagon secretion | glucagon; secretion abnormal | secretion; glucagon abnormal ICD9CM_2014:251.4|SNOMEDCT_US_2016_09_01:11178005|SNOMEDCT_US_2016_09_01:190442008 C0403608 Ureter Disorder of ureter | Disorder of ureter (disorder) | Ureter Disorder | Ureteral Disorders | Ureteral disorder | Ureteral disorder NOS | Ureteric Disorder | Ureteric disorders | disease (or disorder); ureter | disorder of ureter | disorder of ureter (diagnosis) | disorders ureter | ureter | ureter disorder | ureter; disorder MEDLINEPLUS_20151021:Your kidneys make urine by filtering wastes and extra water from your blood. The urine travels from the kidneys to the bladder in two thin tubes called ureters.
The ureters are about 8 to 10 inches long. Muscles in the ureter walls tighten and relax to force urine down and away from the kidneys. Small amounts of urine flow from the ureters into the bladder about every 10 to 15 seconds.
Sometimes the ureters can become blocked or injured. This can block the flow of urine to the bladder. If urine stands still or backs up the ureter, you may get a urinary tract infections.
Doctors diagnose problems with the ureters using different tests. These include urine tests, x-rays, and examination of the ureter with a scope called a cystoscope. Treatment depends on the cause of the problem. It may include medicines and, in severe cases, surgery.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
| NCI2016_02D:A non-neoplastic or neoplastic disorder affecting the ureter. SNOMEDCT_US_2016_09_01:128073008 C2106870 Pain due to renal dialysis device, implant, or graft pain due to renal dialysis device, implant, or graft | pain due to renal dialysis device, implant, or graft (diagnosis) C1832200 Peroxisome biogenesis disorders Disorders of peroxisome biogenesis | Peroxisome biogenesis disorders ICD10CM_2017:E71.51|MSH2017_2016_08_12:C536664 C4047672 Meralgia paresthetica of left leg Meralgia paresthetica of left leg | Meralgia paresthetica of left leg (disorder) SNOMEDCT_US_2016_09_01:290251000119106 C0022665 Kidney neoplasm Kidney Neoplasm | Kidney Neoplasms | Kidney Neoplasms [Disease/Finding] | Kidney Tumor | Kidneys--Tumors | NEOPLASIA RENAL | Neoplasia of the kidneys | Neoplasia renal | Neoplasm of Kidney | Neoplasm of kidney | Neoplasm of kidney (disorder) | Neoplasm of the Kidney | Neoplasm, Kidney | Neoplasm, Renal | Neoplasms, Kidney | Neoplasms, Renal | RENAL NEOPLASIA | Renal Neoplasm | Renal Neoplasms | Renal Tumor | Renal Tumors | Renal neoplasia | Renal neoplasm | Renal neoplasm NOS | Renal neoplasms | Renal tumor | Renal tumors | Renal tumour | Tumor of Kidney | Tumor of kidney | Tumor of the Kidney | Tumour of kidney | kidney neoplasm | kidney neoplasms | kidney tumor | kidney tumors | kidney tumour | kidney tumours | neoplasm of kidney | neoplasm of kidney (diagnosis) | renal neoplasm | renal neoplasms | renal tumor | renal tumors | renal tumour | renal tumours CSP2006:new abnormal tissue of the kidney that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease. | HPO2016_07_04:The presence of a neoplasm of the kidney. [HPO:probinson] | MSH2017_2016_08_12:Tumors or cancers of the KIDNEY. | NCI2016_02D:A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. | NCI2016_NICHD_1602D:Neoplasia located in the kidney. HPO2016_07_04:HP:0009726|MSH2017_2016_08_12:D007680|SNOMEDCT_US_2016_09_01:126880001 C1835817 Fanconi anemia, complementation group n FANCN | FANCONI ANEMIA, COMPLEMENTATION GROUP N | Fanconi Anemia, Complementation Group N | fanconi anemia complementation group n | fanconi anemia complementation group n (diagnosis) MSH2017_2016_08_12:C563657|OMIM2016_04_17:610355|OMIM2016_04_17:610832 C1862178 Cole carpenter syndrome BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES | CLCRP1 | COLE-CARPENTER SYNDROME 1 | Cole Carpenter syndrome | Cole-Carpenter Syndrome MSH2017_2016_08_12:C535963|OMIM2016_04_17:112240|OMIM2016_04_17:176790 C2930867 Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance | Rasmussen Johnsen Thomsen syndrome MSH2017_2016_08_12:C535290 C0042075 Urologic diseases DISEASES AND SYNDROMES OF THE URINARY TRACT | DISORDER URINARY TRACT | Disease of urinary tract | Disease of urinary tract (disorder) | Disease of urinary tract, NOS | Disease or syndrome of urinary tract | Disease, Urinary Tract | Disease, Urologic | Disease, Urological | Disease;urological | Diseases and Syndromes of Urinary Tract | Diseases of the urinary system | Diseases, Urinary Tract | Diseases, Urologic | Diseases, Urological | Disord urinary system,unspecif | Disorder of Urinary System | Disorder of the urinary system | Disorder of the urinary system (disorder) | Disorder of urinary system, unspecified | Disorder of urinary system, unspecified (disorder) | Disorder of urinary tract | Disorder of urinary tract (disorder) | Disorder of urinary tract proper | Disorder of urinary tract proper (disorder) | Disorder of urinary tract, NOS | Disorder urinary tract | Genitourinary system diseases (& [kidney] or [urinary]) | Genitourinary system diseases (& [kidney] or [urinary]) (disorder) | Kidney/urinary disease NOS | Kidney/urinary disease NOS (disorder) | Mouse Urological Syndrome (MUS) | OBSTRUCTIVE UROPATHY | Renal and urinary disorders | Syndrome of urinary tract | Syndrome of urinary tract, NOS | URINARY SYSTEM DISORDERS | URINARY TRACT DISORDER | URINARY TRACT DISORDER OF | UROPATHY | Unspecified disorder of urethra and urinary tract | Urinary System Disorder | Urinary Tract Disease | Urinary Tract Diseases | Urinary Tract Disorder | Urinary Tract Disorders | Urinary diseases | Urinary system disease | Urinary system disorder | Urinary tract disorder | Urinary tract disorder NOS | Urinary tract disorder of | Urologic Disease | Urologic Diseases | Urologic Diseases [Disease/Finding] | Urologic Disorder | Urologic disease | Urologic disease, NOS | Urological Disease | Urological Diseases | Urological Disorders | Urological disorder | Uropathy | disease (or disorder); urinary tract | disease system urinary | disease tract urinary | disease urinary system | disease urologic | disease urological | diseases of the urinary system | diseases system urinary | diseases systems urinary | diseases tract urinary | diseases urologic | disorder urinary tract | disorder urological | disorders of urinary tract | disorders of urinary tract (diagnosis) | disorders system urinary | disorders tract urinary | disorders urological | kidney/urinary disease (non-specific) | renal and urinary disorders | renal and urinary disorders (diagnosis) | renal urinary disorders | urinary renal disorders | urinary system disease | urinary system diseases | urinary system disorder | urinary system disorders | urinary tract disease | urinary tract diseases | urinary tract disorder | urinary tract disorders | urologic disease | urologic diseases | urologic disorders | urologic disorders (diagnosis) | urological disease | urological diseases | uropathy CSP2006:condition in which there is a deviation from or interruption of the normal structure or function of the urinary tract. | MSH2017_2016_08_12:Pathological processes of the URINARY TRACT in both males and females. | NCI2016_02D:Disorders of any part of the urologic system. | NCI2016_CDISC_1602D:A constellation of findings in male rodents characterized by ulceration and/or inflammation of the penis and prepuce, proteinaceous material with inflammatory cells, spermatozoa or desquamated urothelial cells forming a plug in the urethra and generally dilatation of the bladder, hydroureter and hydronephrosis. | NCI2016_NICHD_1602D:Any disease affecting the urinary system. ICD10CM_2017:N39.9|ICD9CM_2014:599.9|MSH2017_2016_08_12:D014570|SNOMEDCT_US_2016_09_01:128606002|SNOMEDCT_US_2016_09_01:155848006|SNOMEDCT_US_2016_09_01:155903006|SNOMEDCT_US_2016_09_01:197951006|SNOMEDCT_US_2016_09_01:266612003|SNOMEDCT_US_2016_09_01:307415006|SNOMEDCT_US_2016_09_01:41368006 C1335964 Mammary signet ring cell carcinoma Mammary Signet Ring Cell Carcinoma | Primary Mammary Signet Ring Cell Carcinoma | Primary SRC Breast Carcinoma | Primary SRC Carcinoma of Breast | Primary SRC Carcinoma of the Breast | Primary Signet Ring Cell Breast Carcinoma | Primary Signet Ring Cell Carcinoma of Breast | Primary Signet Ring Cell Carcinoma of the Breast | SRC Breast Carcinoma | SRC Carcinoma of Breast | SRC Carcinoma of the Breast | Signet Ring Cell Breast Carcinoma | Signet Ring Cell Carcinoma of Breast | Signet Ring Cell Carcinoma of the Breast | signet ring cell carcinoma of breast | signet ring cell carcinoma of breast (diagnosis) NCI2016_02D:An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance. C0849867 Disease;generalised Disease;generalised | Extensive Disease | Generalised illness | Generalized Disease | Generalized illness | Widespread Disease | generalised disease | generalized disease NCI2016_02D:A pathologic process that has spread from its original site of growth to multiple distant anatomic sites. C1446712 Overlapping fingers Overlapping fingers | finger(s); overlapping HPO2016_07_04:A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. [HPO:probinson, pmid:19125433] HPO2016_07_04:HP:0010557|OMIM2016_04_17:MTHU004215 C4072825 Thickened facial skin with coarse facial features Thickened facial skin with coarse facial features HPO2016_07_04:HP:0000280 C1333081 Colloid carcinoma of the pancreas Colloid Carcinoma of the Pancreas | Mucinous Noncystic Carcinoma | Pancreatic Mucinous Noncystic Carcinoma NCI2016_02D:An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei. C3809522 Infantile liver failure syndrome 1 ILFS1 | INFANTILE LIVER FAILURE SYNDROME 1 OMIM2016_04_17:615438 C3554657 Lissencephaly 5 LIS5 | LISSENCEPHALY 5 OMIM2016_04_17:150240|OMIM2016_04_17:615191 C0015376 Extravasations EXTRAVASATION | EXTRAVASATIONS | Extravasation | Extravasation (morphologic abnormality) | Extravasation NOS | Extravasation, NOS | Extravasations | Leakage | Leakage, NOS | Spillage | Spillage, NOS | extravasation | extravasations | leakage | spillage | spillages NCI2016_02D:The leakage of body fluid or cells from the vascular system to the surrounding tissues. This process occurs either by force or as a result of a pathologic reaction (e.g., inflammation). This process may sometimes allow cancer cells to migrate from capillaries to adjacent tissues, initiating micro-metastases. | NCI2016_02D:The unintentional discharge of a substance from a container or enclosed space. | NCI2016_FDA_1602D:A discharge or escape, as of blood, from a vessel into the tissues. | NCI2016_NCI-GLOSS_1602D:The leakage of blood, lymph, or other fluid, such as an anticancer drug, from a blood vessel or tube into the tissue around it. It is also used to describe the movement of cells out of a blood vessel into tissue during inflammation or metastasis (the spread of cancer). SNOMEDCT_US_2016_09_01:76676007 C3149223 Absent abdominal musculature Absent abdominal musculature | Aplasia of the abdominal wall musculature HPO2016_07_04:Absence of the abdominal musculature. [HPO:probinson] HPO2016_07_04:HP:0005199|OMIM2016_04_17:MTHU026699 C0221013 Mastocytosis, systemic MAST CELL DISEASE, SYSTEMIC | MASTOCYTOSIS, SYSTEMIC | Mast-Cell Disease, Systemic | Mast-Cell Diseases, Systemic | Mastocytoses, Systemic | Mastocytosis, Systemic | Mastocytosis, Systemic [Disease/Finding] | SMCD - systemic mast cell disease | Systemic Mast Cell Disease | Systemic Mast-Cell Disease | Systemic Mast-Cell Diseases | Systemic Mastocytoses | Systemic Mastocytosis | Systemic Tissue Mast Cell Disease | Systemic mast cell disease | Systemic mast cell disease (disorder) | Systemic mastocytosis | Systemic mastocytosis (disorder) | Systemic mastocytosis -RETIRED- | Systemic mastocytosis, NOS | Systemic tissue mast cell disease | Urticaria pigmentosa, systemic | disease (or disorder); systemic tissue, mast cell | mastocytosis systemic | systemic mast cell disease | systemic mast-cell disease | systemic mastocytosis | systemic urticaria pigmentosa | systemic; mast cell disease MSH2017_2016_08_12:A group of disorders caused by the abnormal proliferation of MAST CELLS in a variety of extracutaneous tissues including bone marrow, liver, spleen, lymph nodes, and gastrointestinal tract. Systemic mastocytosis is commonly seen in adults. These diseases are categorized on the basis of clinical features, pathologic findings, and prognosis. | NCI2016_02D:A variant of mastocytosis characterized by multifocal, dense infiltrates of mast cells (15 or more mast cells in aggregates) detected in the bone marrow and/or other extracutaneous sites. (WHO, 2001) -- 2003 | NCI2016_NCI-GLOSS_1602D:A rare disease in which too many mast cells (a type of immune system cell) are found in the skin, bones, joints, lymph nodes, liver, spleen, and gastrointestinal tract. Mast cells give off chemicals such as histamine that can cause flushing (a hot, red face), itching, abdominal cramps, muscle pain, nausea, vomiting, diarrhea, low blood pressure, and shock. MSH2017_2016_08_12:D034721|OMIM2016_04_17:164920|SNOMEDCT_US_2016_09_01:123310005|SNOMEDCT_US_2016_09_01:397016004|SNOMEDCT_US_2016_09_01:50150000 C2675491 Amyotrophic lateral sclerosis 11 ALS11 | AMYOTROPHIC LATERAL SCLEROSIS 11 | Amyotrophic Lateral Sclerosis 11 MSH2017_2016_08_12:C567244|OMIM2016_04_17:609390|OMIM2016_04_17:612577 C0234545 Delirium postseizure Postepileptic delirium | Postictal delirium | Postseizure delirium | Postseizure delirium (diagnosis) | Postseizure delirium (disorder) | Postseizure delirium (finding) | delirium postseizure SNOMEDCT_US_2016_09_01:49481000 C0543669 Neutrophilia, hereditary Hereditary neutrophilia | Hereditary neutrophilia (diagnosis) | Hereditary neutrophilia (disorder) | Hereditary neutrophilia (finding) | NEUTROPHILIA, HEREDITARY | Neutrophilia, Hereditary | neutrophilia hereditary MSH2017_2016_08_12:C563010|OMIM2016_04_17:162830|SNOMEDCT_US_2016_09_01:129639005 C0006895 Capgras syndrome Capgras Syndrome | Capgras Syndrome [Disease/Finding] | Capgras syndrome | Capgras' syndrome | Capgras' syndrome (finding) | Delusional misidentification syndrome | Syndrome, Capgras | capgras syndrome | capgras' syndrome MSH2017_2016_08_12:A psychotic disorder characterized by the patient's belief that acquaintances or closely related persons have been replaced by doubles or imposters. | NCI2016_02D:A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all. | PSY2004:Clinical condition in which patient believes an acquaintance, a closely related person, or a close associate has been replaced by a double or an impostor. MSH2017_2016_08_12:D002194|SNOMEDCT_US_2016_09_01:44906001 C2584774 Congenital hypofibrinogenemia AFIBRINOGENEMIA, CONGENITAL | Afibrinogenaemia, Congenital | Afibrinogenaemias, Congenital | Afibrinogenemia, Congenital | Afibrinogenemia, Familial | Afibrinogenemias, Congenital | Afibrinogenemias, Familial | CONGENITAL AFIBRINOGENEMIA | Congenital Afibrinogenaemia | Congenital Afibrinogenaemias | Congenital Afibrinogenemia | Congenital Afibrinogenemias | Congenital Hypofibrinogenemia | Congenital Hypofibrinogenemias | Congenital afibrinogenaemia | Congenital afibrinogenaemia (disorder) | Congenital afibrinogenemia | Congenital afibrinogenemia (disorder) | Congenital hypofibrinogenaemia | Congenital hypofibrinogenemia | Congenital hypofibrinogenemia (disorder) | Familial Afibrinogenemia | Familial Afibrinogenemias | HYPOFIBRINOGENEMIA, CONGENITAL | Hereditary hypofibrinogenaemia | Hereditary hypofibrinogenemia | Hypofibrinogenemia, Congenital | Hypofibrinogenemias, Congenital | afibrinogenemia; congenital | congenital; afibrinogenemia | congenital; hypofibrinogenemia | hypofibrinogenemia; congenital ICD10CM_2017:D68.2|MSH2017_2016_08_12:D000347|OMIM2016_04_17:134820|OMIM2016_04_17:134830|OMIM2016_04_17:134850|OMIM2016_04_17:202400|SNOMEDCT_US_2016_09_01:154818001|SNOMEDCT_US_2016_09_01:31925001|SNOMEDCT_US_2016_09_01:439145006 C0029453 Osteopenia Bone Loss | Bone demineralized | Bone loss | Decreased bone mineral density | OSTEOPENIA | Osteopaenia | Osteopenia | Osteopenia (disorder) | Osteopenia (morphologic abnormality) | Osteopenias | bone loss | bone; loss | loss; bone | osteopenia | osteopenia (diagnosis) CSP2006:decreased calcification, bone density, or bone mass due to inadequate osteoid synthesis. | HPO2016_07_04:Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value. [HPO:probinson] | NCI2016_02D:Decreased calcification or density of bone tissue. | NCI2016_NCI-GLOSS_1602D:A condition in which there is a lower-than-normal bone mass or bone mineral density (the amount of bone mineral contained in a certain amount of bone). Osteopenia is a less severe form of bone loss than osteoporosis. HPO2016_07_04:HP:0000938|MSH2017_2016_08_12:D001851|OMIM2016_04_17:MTHU000031|OMIM2016_04_17:MTHU020037|SNOMEDCT_US_2016_09_01:156879002|SNOMEDCT_US_2016_09_01:203889002|SNOMEDCT_US_2016_09_01:312894000|SNOMEDCT_US_2016_09_01:78441005 C1855657 Calvarial osteosclerosis Calvarial osteosclerosis HPO2016_07_04:An increase in bone density affecting the calvaria (roof of the skull). [HPO:curators] HPO2016_07_04:HP:0005450|OMIM2016_04_17:MTHU012020 C0302497 Retrobulbar haemorrhage Hemorrhage, Retrobulbar | Retrobulbar Hemorrhage | Retrobulbar Hemorrhage [Disease/Finding] | Retrobulbar Hemorrhages | Retrobulbar haematoma | Retrobulbar haemorrhage | Retrobulbar hematoma | Retrobulbar hemorrhage | Retrobulbar hemorrhage (disorder) | retrobulbar haemorrhage | retrobulbar hemorrhage MSH2017_2016_08_12:Hemorrhage within the orbital cavity, posterior to the eyeball. | NCI2016_02D:Bleeding in the orbital cavity that results in compression of orbital structures, resulting in ischemia of the optic nerve, and possible loss of vision. | NCI2016_NICHD_1602D:Accumulation of blood posterior to the globe. MSH2017_2016_08_12:D019315|SNOMEDCT_US_2016_09_01:194179009 C3551019 Choroideremia, deafness, and mental retardation CHOROIDEREMIA, DEAFNESS, AND MENTAL RETARDATION | CHROMOSOME Xq21 DELETION SYNDROME OMIM2016_04_17:303110 C4048704 Unna-thost syndrome Diffuse palmoplantar keratoderma of Thost-Unna | Diffuse palmoplantar keratoderma of Thost-Unna (disorder) | Thost-Unna Syndrome | Thost-Unna diffuse palmoplantar keratoderma | Thost-Unna keratoderma | Unna-Thost Disease | Unna-Thost Syndrome | Unna-Thost disease NCI2016_02D:An autosomally dominant inherited form of palmoplantar keratoderma that is characterized by a non-gradient diffuse pattern and often, hyperhidrosis of the palms of the hands and soles of the feet. It does not extend beyond the palms, knucklels pads, nails, and the soles. SNOMEDCT_US_2016_09_01:28596004|SNOMEDCT_US_2016_09_01:399955009 C0542571 Facial edema EDEMA FACE | Edema face | Edema of face | Edema of face (finding) | Edema of the face | FACE EDEMA | FACE OEDEMA | FACIAL EDEMA | Face Edema | Face edema | Face edematous | Face oedema | Face oedematous | Facial edema | Facial puffiness | Facial swelling | Oedema face | Oedema of face | edema face | edema facial | face edema | facial edema | facial edema (physical finding) NCI2016_02D:Swelling due to an excessive accumulation of fluid in facial tissues. | NCI2016_CTCAE_1602D:A disorder characterized by swelling due to excessive fluid accumulation in facial tissues. HPO2016_07_04:HP:0000282|OMIM2016_04_17:MTHU004155|OMIM2016_04_17:MTHU009840|SNOMEDCT_US_2016_09_01:445088006 C4021652 Anterior wedging of t11 Anterior wedging of T11 | Anterior wedging of the 11th thoracic vertebra | Wedge-shaped 11th thoracic vertebra HPO2016_07_04:An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front). [HPO:probinson] HPO2016_07_04:HP:0004573 C1266134 Spindle cell rhabdomyosarcoma Spindle Cell Rhabdomyosarcoma | Spindle cell rhabdomyosarcoma | Spindle cell rhabdomyosarcoma (disorder) | Spindle cell rhabdomyosarcoma (morphologic abnormality) | malignant neoplasm myosarcoma rhabdomyosarcoma spindle cell | spindle cell rhabdomyosarcoma | spindle cell rhabdomyosarcoma (diagnosis) NCI2016_02D:An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck. SNOMEDCT_US_2016_09_01:128749008|SNOMEDCT_US_2016_09_01:404055006 C0334565 Adenoameloblastoma Adenoameloblastoma | Adenomatoid Odontogenic Neoplasm | Adenomatoid Odontogenic Tumor | Adenomatoid ameloblastoma | Adenomatoid odontogenic tumor | Adenomatoid odontogenic tumor (morphologic abnormality) | Adenomatoid odontogenic tumour | Pleomorphic adenomatoid tumor | adenoameloblastoma | adenomatoid; odontogenic tumor | adenomatoid; tumor, odontogenic | odontogenic; tumor, adenomatoid | tumor; adenomatoid, odontogenic | tumor; odontogenic, adenomatoid NCI2016_02D:A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare. MSH2017_2016_08_12:C538229|SNOMEDCT_US_2016_09_01:60599006 C0014008 Empty sella syndrome EMPTY SELLA | EMPTY SELLA SYNDROME | EMPTY SELLA TURCICA | Empty Sella Syndrome | Empty Sella Syndrome [Disease/Finding] | Empty Sella Syndromes | Empty Sella Turcica | Empty Sella Turcica Syndrome | Empty Sella Turcicas | Empty sella syndrome | Empty sella syndrome (disorder) | Empty sella turcica | Sella Turcica, Empty | Sella Turcicas, Empty | empty sella | empty sella syndrome | empty sella syndrome (diagnosis) | empty sella turcica MSH2017_2016_08_12:A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS. | NCI2016_02D:A syndrome characterized by flattening or regression of the pituitary gland within the sella turcica cavity, resulting in an MRI image of an empty sella turcica. Signs and symptoms are secondary to pituitary gland hypofunction. MSH2017_2016_08_12:D004652|OMIM2016_04_17:MTHU024846|SNOMEDCT_US_2016_09_01:190489005|SNOMEDCT_US_2016_09_01:237722004|SNOMEDCT_US_2016_09_01:393569006 C0238410 Renal pelvis urothelial carcinoma KIDNEY, PELVIS, PAPILLOMA, TRANSITIONAL CELL | RENAL CANCER, PELVIS TRANSITIONAL CELL CARCINOMA | RENAL PELVIS TRANSITIONAL CELL CARCINOMA | Renal Pelvis Transitional Cell Carcinoma | Renal Pelvis Urothelial Carcinoma | Transitional Cell Carcinoma of Renal Pelvis | Transitional Cell Carcinoma of the Renal Pelvis | Urothelial Cell Carcinoma of Renal Pelvis | Urothelial Cell Carcinoma of the Renal Pelvis | transitional cell carcinoma of renal pelvis | transitional cell carcinoma of renal pelvis (diagnosis) NCI2016_02D:A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas. C0011847 Diabetes Diabetes OMIM2016_04_17:MTHU050182 C1854058 Spinal muscular atrophy, late-onset, finkel type FINKEL LATE-ADULT TYPE SMA | Finkel Late-Adult Type SMA | SMAFK | SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE | SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT | Spinal Muscular Atrophy, Late-Onset, Finkel Type MSH2017_2016_08_12:C566673|OMIM2016_04_17:182980|OMIM2016_04_17:605704 C2981636 Stage iiib hilar cholangiocarcinoma Stage IIIB Hilar Cholangiocarcinoma | Stage IIIB Hilar Cholangiocarcinoma AJCC v7 NCI2016_02D:Stage IIIB includes: T1-3, N1, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue. T2a: Tumor invades beyond the wall of the bile duct to surrounding adipose tissue. T2b: Tumor invades adjacent hepatic parenchyma. T3: Tumor invades unilateral branches of the portal vein or hepatic artery. N1: Regional lymph node metastasis (including nodes along the cystic duct, common bile duct, hepatic artery, and portal vein). M0: No distant metastasis. (from AJCC 7th Ed.) C0155286 Extraocular muscles; myopathy Extraocular myopathy | Myopathy of extraocular muscles | Myopathy of extraocular muscles (disorder) | extraocular muscles; myopathy | extraocular myopathy | extraocular myopathy (diagnosis) | myopathy; extraocular muscles ICD10CM_2017:H05.82|ICD9CM_2014:376.82|SNOMEDCT_US_2016_09_01:57130002 C0009595 Obsessive-compulsive personality (Anankastic personality) or (anankastic personality disorder) | (Anankastic personality) or (anankastic personality disorder) (disorder) | Anancastic personality | Anancastic personality disorder | Anankastic Personality | Anankastic personality | Anankastic personality (disorder) | Anankastic personality disorder | Anankastic personality disorder (disorder) | OBSESSIVE-COMPULSIVE PERSONALITY | Obsessional personality | Obsessional personality (& disorder) | Obsessional personality (& disorder) (disorder) | Obsessional personality (disorder) | Obsessional personality disorder | Obsessive Compulsive Personality | Obsessive Compulsive Personality Disorder | Obsessive compulsive personality disorder | Obsessive compulsive personality disorder (disorder) | Obsessive-Compulsive Personalities | Obsessive-Compulsive Personality | Obsessive-Compulsive Personality Disorder | Obsessive-compulsive personality | Obsessive-compulsive personality disorder | Obsessive-compulsive personality trait | Obsessive-compulsive personality trait (finding) | PERSONALITY DISORDER OBSESSIVE COMPULSIVE | Personalities, Obsessive-Compulsive | Personality, Obsessive-Compulsive | anancastic personality | anankastic personality | anankastic personality disorder | anankastic; personality disorder | obsessive compulsive personality | obsessive compulsive personality disorder | obsessive compulsive personality disorder (diagnosis) | obsessive-compulsive personality | personality disorder; anankastic | personality disorder; obsessive NCI2016_02D:A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics. | PSY2004:Personality disorder characterized by perfectionism, indecisiveness, excessive devotion to work, inability to express warm emotions, and insistence that things be done in accord with one's own preferences. ICD10CM_2017:F60.5|ICD9CM_2014:301.4|MSH2017_2016_08_12:D003193|SNOMEDCT_US_2016_09_01:112091009|SNOMEDCT_US_2016_09_01:1376001|SNOMEDCT_US_2016_09_01:154899005|SNOMEDCT_US_2016_09_01:191760000|SNOMEDCT_US_2016_09_01:191761001|SNOMEDCT_US_2016_09_01:191762008|SNOMEDCT_US_2016_09_01:192490006|SNOMEDCT_US_2016_09_01:271200007 C0153494 Malignant tumor of pleura CA - Cancer of pleura | Cancer of Pleura | Cancer of pleura | Cancer of the Pleura | Malig neop pleura NOS | Malignant Neoplasm of Pleura | Malignant Neoplasm of the Pleura | Malignant Pleural Neoplasm | Malignant Pleural Tumor | Malignant Tumor of Pleura | Malignant Tumor of the Pleura | Malignant neoplasm of pleura | Malignant neoplasm of pleura NOS | Malignant neoplasm of pleura NOS (disorder) | Malignant neoplasm of pleura, NOS | Malignant neoplasm of pleura, unspecified | Malignant tumor of pleura | Malignant tumor of pleura (disorder) | Malignant tumour of pleura | Pleura--Cancer | Pleural Cancer | malignant neoplasm of pleura | malignant neoplasm of pleura (diagnosis) | malignant pleural neoplasm | malignant tumor of pleura | pleura cancer NCI2016_02D:A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site. ICD10CM_2017:C38.4|ICD9CM_2014:163|ICD9CM_2014:163.9|SNOMEDCT_US_2016_09_01:187880003|SNOMEDCT_US_2016_09_01:363433009|SNOMEDCT_US_2016_09_01:93966009 C0343101 Wells syndrome Bullous cellulitis with eosinophilia | Eosinophilic cellulitis | Eosinophilic cellulitis (disorder) | Eosinophilic cellulitis [Wells] | Wells | Wells syndrome | Wells' syndrome | cellulitis; eosinophilic | eosinophilic cellulitis | eosinophilic cellulitis (diagnosis) | eosinophilic; cellulitis | syndrome wells | well syndrome | well's syndrome | wells' syndrome ICD10CM_2017:L98.3|MSH2017_2016_08_12:C536693|SNOMEDCT_US_2016_09_01:201335000|SNOMEDCT_US_2016_09_01:238931006 C2930977 Acute erythroleukemia - m6b subtype Acute erythroleukemia - M6b subtype MSH2017_2016_08_12:C535673 C0153567 Uterine cancer -- Uterine Cancer | CA - Cancer of uterus | Ca uterus NOS | Cancer of Uterus | Cancer of the Uterus | Cancer of uterus | Cancer, Uterine | Cancer, Uterus | Cancers, Uterine | Cancers, Uterus | Malig neop uterus, part unspec | Malignant Neoplasm of Uterus | Malignant Neoplasm of the Uterus | Malignant Tumor of Uterus | Malignant Tumor of the Uterus | Malignant Uterine Neoplasm | Malignant Uterine Tumor | Malignant neoplasm of uterus | Malignant neoplasm of uterus (disorder) | Malignant neoplasm of uterus, NOS | Malignant neoplasm of uterus, part unspecified | Malignant neoplasm of uterus, part unspecified (disorder) | Malignant tumor of uterus | Malignant tumour of uterus | Neoplasm malig;uterus | UTERINE CANCER | Uterine Ca NOS | Uterine Cancer | Uterine Cancers | Uterine cancer | Uterine cancer NOS | Uterine cancer, NOS | Uterus Cancer | Uterus Cancers | Uterus--Cancer | cancer of the uterus | cancer of uterus | malignant neoplasm of uterus | malignant neoplasm of uterus (diagnosis) | malignant neosplasm of the uterus | malignant tumor of uterus | uterine cancer | uterine cancer (diagnosis) | uterine cancers | uterus cancer MEDLINEPLUS_20151021:The uterus, or womb, is an important female reproductive organ. It is the place where a baby grows when a women is pregnant. There are different types of uterine cancer. The most common type starts in the endometrium, the lining of the uterus. This type of cancer is sometimes called endometrial cancer.
The symptoms of uterine cancer include
Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation.
NIH: National Cancer Institute
| NCI2016_02D:Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix. | NCI2016_NCI-GLOSS_1602D:Cancer that forms in tissues of the uterus (the small, hollow, pear-shaped organ in a woman's pelvis in which a fetus develops). Two types of uterine cancer are endometrial cancer (cancer that begins in cells lining the uterus) and uterine sarcoma (a rare cancer that begins in muscle or other tissues in the uterus). ICD10CM_2017:C55|ICD9CM_2014:179|MSH2017_2016_08_12:D014594|OMIM2016_04_17:MTHU016107|SNOMEDCT_US_2016_09_01:188173004|SNOMEDCT_US_2016_09_01:269613007|SNOMEDCT_US_2016_09_01:371973000|SNOMEDCT_US_2016_09_01:93718007|SNOMEDCT_US_2016_09_01:94127009 C4025262 Prominent styloid process of ulna Prominent styloid process of ulna HPO2016_07_04:HP:0004981 C1854408 Glabellar hemangioma Capillary hemangioma (glabellar) | Glabellar capillary hemangioma | Glabellar hemangioma HPO2016_07_04:HP:0001076|OMIM2016_04_17:MTHU004499|OMIM2016_04_17:MTHU004504|OMIM2016_04_17:MTHU013439 C3554607 Mitochondrial complex iii deficiency, nuclear type 4 MC3DN4 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 OMIM2016_04_17:612080|OMIM2016_04_17:615159 C4280639 Hyperplasia of supraorbital margins Hyperplasia of supraorbital margins HPO2016_07_04:HP:0000336 C0268255 Farber lipogranulomatosis AC DEFICIENCY | ACID CERAMIDASE DEFICIENCY | Acid Ceramidase Deficiencies | Acid Ceramidase Deficiency | Acid ceramidase deficiency | Acylsphingosine deacylase deficiency | CERAMIDASE DEFICIENCY | Ceramidase Deficiencies | Ceramidase Deficiency | Ceramidase Deficiency, Acid | Ceramidase deficiency | Deficiencies, Ceramidase | Deficiencies, N-Laurylsphingosine Deacylase | Deficiency, Acid Ceramidase | Deficiency, Ceramidase | Deficiency, N-Laurylsphingosine Deacylase | Disease, Farber's | Diseases, Farber's | Disseminated lipogranulomatosis | FARBER DISEASE | FARBER LIPOGRANULOMATOSIS | FRBRL | Farber | Farber Disease | Farber Lipogranulomatosis | Farber Lipogranulomatosis [Disease/Finding] | Farber disease | Farber lipogranulomatosis | Farber's Disease | Farber's Diseases | Farber's disease | Farber's lipogranulomatosis | Farber's lipogranulomatosis (disorder) | Farber-Uzman syndrome | Farbers Disease | Lipogranulomatosis, Farber | N Laurylsphingosine Deacylase Deficiency | N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY | N-Laurylsphingosine Deacylase Deficiencies | N-Laurylsphingosine Deacylase Deficiency | acid ceramidase deficiency | disease farber s | disease farbers | farber disease | farber's disease | farber's lipogranulomatosis MSH2017_2016_08_12:A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE. | NCI2016_02D:A very rare autosomal recessive metabolic disorder affecting lipid metabolism. It is caused by mutations in the ASAH1 gene and is characterized by fatty accumulation in the body tissues. Patients develop lipogranulomas in the skin and internal organs, edema and pain in the joints and a hoarse voice. It may be associated with intellectual disability. MSH2017_2016_08_12:D055577|OMIM2016_04_17:228000|OMIM2016_04_17:613468|OMIM2016_04_17:MTHU041892|SNOMEDCT_US_2016_09_01:79935000 C1868111 Polydactyly, preaxial 4 POLYDACTYLY, PREAXIAL IV | POLYSYNDACTYLY, UNCOMPLICATED | Polydactyly, Preaxial Iv | Polydactyly, preaxial 4 | Polysyndactyly, uncomplicated MSH2017_2016_08_12:C536333|OMIM2016_04_17:174700 C0340037 Young syndrome AZOOSPERMIA, OBSTRUCTIVE, AND CHRONIC SINOPULMONARY INFECTIONS | Azoospermia sinopulmonary infections | Azoospermia, obstructive and chronic sinopulmonary infections | Azoospermia, obstructive, and chronic sinopulmonary infections | BARRY-PERKINS-YOUNG SYNDROME | Barry-Perkins-Young syndrome | SINUSITIS-INFERTILITY SYNDROME | Sinusitis-infertility syndrome | Somatotropic hormone syndrome | YOUNG SYNDROME | Young Syndrome | Young syndrome | Young's syndrome | Young's syndrome (disorder) MSH2017_2016_08_12:C536718|OMIM2016_04_17:279000|SNOMEDCT_US_2016_09_01:198010009|SNOMEDCT_US_2016_09_01:233666007 C0009938 Bruising BRUISE | BRUISING | Bruise | Bruise (contusion) - lesion | Bruise (contusion) - lesion (qualifier value) | Bruise (finding) | Bruise - lesion | Bruise - lesion (morphologic abnormality) | Bruise NOS | Bruise NOS (disorder) | Bruised | Bruises | Bruising | CONTUSION | CONTUSIONS | Contused | Contused Wounds | Contused wound | Contusion | Contusion (disorder) | Contusion (morphologic abnormality) | Contusion - lesion | Contusion - lesion (morphologic abnormality) | Contusion NOS | Contusion of unspecified site | Contusion, NOS | Contusions | Contusions [Disease/Finding] | Wound, contused | bruise | bruised | bruises | bruising | contus | contused | contused wound | contusion | contusion (physical finding) | contusions CSP2006:mechanical injury (usually caused by a blow) resulting in hemorrhage beneath unbroken skin; a bruise. | MEDLINEPLUS_20151021:A bruise is a mark on your skin caused by blood trapped under the surface. It happens when an injury crushes small blood vessels but does not break the skin. Those vessels break open and leak blood under the skin.
Bruises are often painful and swollen. You can get skin, muscle and bone bruises. Bone bruises are the most serious.
It can take months for a bruise to fade, but most last about two weeks. They start off a reddish color, and then turn bluish-purple and greenish-yellow before returning to normal. To reduce bruising, ice the injured area and elevate it above your heart. See your healthcare provider if you seem to bruise for no reason, or if the bruise appears to be infected.
| MSH2017_2016_08_12:Injuries resulting in hemorrhage, usually manifested in the skin. | NCI2016_02D:A bruise due to trauma.(NICHD) | NCI2016_02D:Injury of the soft tissues or bone without breaking the skin that is characterized by blood leakage into the surrounding area. | NCI2016_CTCAE_1602D:A finding of injury of the soft tissues or bone characterized by leakage of blood into surrounding tissues. | NCI2016_FDA_1602D:A bruise; an injury of a part without a break in the skin. | NCI2016_NICHD_1602D:A bruise due to trauma. | NCI2016_NICHD_1602D:Extravasation of blood into the surrounding tissues. ICD10CM_2017:T14.8|ICD9CM_2014:924.9|MSH2017_2016_08_12:D003288|SNOMEDCT_US_2016_09_01:125667009|SNOMEDCT_US_2016_09_01:157440008|SNOMEDCT_US_2016_09_01:157539008|SNOMEDCT_US_2016_09_01:269363005|SNOMEDCT_US_2016_09_01:269380009|SNOMEDCT_US_2016_09_01:271938003|SNOMEDCT_US_2016_09_01:308492005|SNOMEDCT_US_2016_09_01:360235001|SNOMEDCT_US_2016_09_01:37808005|SNOMEDCT_US_2016_09_01:77643000 C0452189 Hiv dis, resulting in burk lym Burkitt; lymphoma, resulting from HIV disease | HIV dis, resulting in Burk lym | HIV disease resulting in Burkitt's lymphoma | HIV disease resulting in Burkitt's lymphoma (disorder) | HIV disease; Burkitt | HIV disease; lymphoma, Burkitt | HIV infection resulting in Burkitt's lymphoma | HIV infection resulting in Burkitt's lymphoma (diagnosis) | Human immunodeficiency virus (HIV) disease resulting in Burkitt lymphoma | Human immunodeficiency virus (HIV) disease resulting in Burkitt's lymphoma | Human immunodeficiency virus (HIV) disease resulting in Burkitt's lymphoma (disorder) | Human immunodeficiency virus disease resulting in Burkitt's lymphoma | Human immunodeficiency virus disease resulting in Burkitt's lymphoma (disorder) | lymphoma; Burkitt, resulting from HIV disease SNOMEDCT_US_2016_09_01:186723002 C1843140 Seizures, benign familial infantile, 3 BFIC3 | BFIS3 | BFNIS | CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3 | Convulsions, Benign Familial Infantile, 3 | SEIZURES, BENIGN FAMILIAL INFANTILE, 3 | SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE | Seizures, Benign Familial Infantile, 3 MSH2017_2016_08_12:D020936|OMIM2016_04_17:182390|OMIM2016_04_17:607745 C0269103 Endometriosis, implanted Endometriosis, implanted | Implanted endometriosis | Implanted endometriosis (disorder) SNOMEDCT_US_2016_09_01:89001007 C0686619 Secondary malignant neoplasm of lymph node (Lymph node metastases) or (secondary and unspecified malignant neoplasm of lymph nodes) | (Lymph node metastases) or (secondary and unspecified malignant neoplasm of lymph nodes) (disorder) | 2-malig neop lymph nodes NOS | Cancer metastatic to lymph nodes | LYMPH NODE METASTASIS | Lymph node metastases | Metastases to Lymph Nodes | Metastases to lymph nodes | Metastasis to Lymph Node | Metastasis to lymph node | Metastasis to lymph node (disorder) | Metastatic Malignant Neoplasm in the Lymph Nodes | Metastatic Malignant Neoplasm to the Lymph Nodes | Metastatic Neoplasm to the Lymph Node | Metastatic Tumor to Lymph Node | Metastatic malignant neoplasm to lymph node | Metastatic malignant neoplasm to lymph node, NOS | Secondar/malig neop lymph node | Secondary and unspec malig neop lymph nodes NOS | Secondary and unspecified malignant neoplasm of lymph node, unspecified | Secondary and unspecified malignant neoplasm of lymph nodes | Secondary and unspecified malignant neoplasm of lymph nodes (disorder) | Secondary and unspecified malignant neoplasm of lymph nodes NOS | Secondary and unspecified malignant neoplasm of lymph nodes NOS (disorder) | Secondary and unspecified malignant neoplasm of lymph nodes, site unspecified | Secondary lymph node cancer | Secondary malignancy of lymph nodes | Secondary malignant neoplasm of lymph node | Secondary malignant neoplasm of lymph node (disorder) | Secondary malignant neoplasm of lymph node, NOS | cancer lymph nodes secondary | lymph metastases node | lymph metastases nodes | lymph metastasis nodes | lymph node metastases | lymph node metastasis | lymph node neoplasm malignant secondary | metastases to lymph nodes | metastasis of malignant neoplasm to lymph nodes | metastasis of malignant neoplasm to lymph nodes (diagnosis) | secondary malignant neoplasm of lymph nodes | secondary malignant neoplasm of lymph nodes (diagnosis) NCI2016_02D:The spread of a malignant neoplasm to the lymph nodes. ICD10CM_2017:C77|ICD10CM_2017:C77.9|ICD9CM_2014:196|ICD9CM_2014:196.9|SNOMEDCT_US_2016_09_01:154556005|SNOMEDCT_US_2016_09_01:188379006|SNOMEDCT_US_2016_09_01:188432007|SNOMEDCT_US_2016_09_01:271526003|SNOMEDCT_US_2016_09_01:94392001 C4024965 Frontal cortical atrophy Frontal cortex degeneration | Frontal cortical atrophy HPO2016_07_04:Atrophy of the frontal cortex. [HPO:probinson] HPO2016_07_04:HP:0006913 C0155778 Extremities lower varicose vein Leg(s) Varicose Vein(s) | Phlebectasia of lower extremities | Phlebectasia of lower extremity | Phlebectasia of lower extremity, NOS | VV - Varicose veins of leg | Varicose Vein of Lower Extremities | Varicose veins of leg | Varicose veins of leg (disorder) | Varicose veins of legs | Varicose veins of legs (excluding S97) | Varicose veins of lower extremities | Varicose veins of lower extremity | Varicose veins of lower extremity (disorder) | Varicose veins of lower extremity, NOS | Varicose veins of lower limb | Varicose veins of the leg NOS | Varicose veins of the leg NOS (disorder) | Varicose veins, leg | Varicose veins;leg | Varix of lower extremities | Varix of lower extremity | Varix of lower extremity, NOS | extremities lower varicose vein | extremities lower varicose veins | leg varicose veins | legs varicose veins | varicose veins leg | varicose veins of lower extremities | varicose veins of lower extremities (diagnosis) | varicose veins of the leg (non-specific) | varicose veins on the leg NCI2016_02D:An abnormally dilated superficial vein in the legs.(NICHD) | NCI2016_NICHD_1602D:An abnormally dilated superficial vein in the legs. ICD10CM_2017:I83|ICD10CM_2017:I83.9|ICD9CM_2014:454|SNOMEDCT_US_2016_09_01:155462007|SNOMEDCT_US_2016_09_01:195444007|SNOMEDCT_US_2016_09_01:195452005|SNOMEDCT_US_2016_09_01:72866009 C0019065 Hemorrhage intraperitoneal APOPLEXY, ABDOMINAL | Abdominal apoplexy | Blood in peritoneal cavity (finding) | HAEMOPERITONEUM | HEMOPERITONEUM | HEMORRHAGE INTRAPERITONEAL | HEMORRHAGE PERITONEAL | Haemoperitoneum | Haemorrhage into peritoneal cavity | Haemorrhage intraperitoneal | Haemorrhage peritoneal | Hemoabdomen | Hemoperitoneum | Hemoperitoneum [Disease/Finding] | Hemoperitoneum, NOS | Hemoperitoneums | Hemorrhage into peritoneal cavity | Hemorrhage into peritoneal cavity (disorder) | Hemorrhage into peritoneal cavity (finding) | Hemorrhage intraperitoneal | Hemorrhage peritoneal | Intraabdominal hemorrhage | Intraperitoneal haemorrhage | Intraperitoneal hemorrhage | MESENTERY, HEMORRHAGE | PERITONEAL BLEEDING | PERITONEAL EFFUSION BLOODY | PERITONEAL HAEMORRHAGE | PERITONEAL HEMORRHAGE | Peritoneal Hemorrhage | Peritoneal bleeding | Peritoneal haemorrhage | Peritoneal haemorrhage, NOS | Peritoneal hemorrhage | Peritoneal hemorrhage, NOS | abdominal apoplexy | bleeds peritoneal | haemoperitoneum | hemoperitoneum | hemorrhage; intraperitoneal | hemorrhage; mesentery | intraperitoneal hemorrhage | intraperitoneal; hemorrhage | mesentery; hemorrhage | peritoneal bleed | peritoneal bleeding | peritoneal hemorrhage HPO2016_07_04:Accumulation of blood in the peritoneal cavity owing to internal hemorrhage. [HPO:probinson] | MSH2017_2016_08_12:Accumulations of blood in the PERITONEAL CAVITY due to internal HEMORRHAGE. | NCI2016_02D:Bleeding originating from the peritoneum. HPO2016_07_04:HP:0011854|ICD10CM_2017:K66.1|MSH2017_2016_08_12:D006465|SNOMEDCT_US_2016_09_01:443826006|SNOMEDCT_US_2016_09_01:45626005 C0679431 Disease of adrenal medulla Adrenal medulla disorders | Disease of adrenal medulla | Disease of adrenal medulla (disorder) | Disorder of adrenal medulla | Disorder of adrenal medulla (disorder) | Medulla | adrenal medulla disorder SNOMEDCT_US_2016_09_01:129637007 C1854454 Axonal regeneration Axonal regeneration | Regenerative activity on nerve biopsy HPO2016_07_04:The presence of axonal regeneration following a previous axonal lesion. [HPO:probinson] HPO2016_07_04:HP:0003450|OMIM2016_04_17:MTHU004515|OMIM2016_04_17:MTHU043630 C1859566 Bardet-biedl syndrome 8 BARDET-BIEDL SYNDROME 8 | BBS8 | Bardet-Biedl Syndrome 8 MSH2017_2016_08_12:C565917|OMIM2016_04_17:608132|OMIM2016_04_17:615985 C0038868 Progressive supranuclear palsy Heterogeneous system degeneration | NUCHAL DYSTONIA DEMENTIA SYNDROME | Nuchal dystonia-dementia syndrome | Ophthalmoplegia, Progressive Supranuclear | PALSY, SUPRANUCLEAR, PROGRESSIVE | PSNP1 | PSP | PSP - Progressive supranuclear palsy | Palsy, Progressive Supranuclear | Progressive Supranuclear Ophthalmoplegia | Progressive Supranuclear Palsies | Progressive Supranuclear Palsy | Progressive supranuclear ophthalmoplegia | Progressive supranuclear ophthalmoplegia (disorder) | Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] | Progressive supranuclear palsy | Progressive supranuclear palsy (disorder) | Richardson Syndrome | Richardson's Syndrome | Richardson-Steele-Olszewski syndrome | STEELE-RICHARDSON-OLSZEWSKI SYNDROME | SUPRANUCLEAR PALSY PROGRESSIVE | SUPRANUCLEAR PALSY, PROGRESSIVE, 1 | Steele Richardson Olszewski Disease | Steele Richardson Olszewski Syndrome | Steele-Richardson-Olszewski | Steele-Richardson-Olszewski Disease | Steele-Richardson-Olszewski Syndrome | Steele-Richardson-Olszewski syndrome | Supranuclear Ophthalmoplegia, Progressive | Supranuclear Palsies, Progressive | Supranuclear Palsy, Progressive | Supranuclear Palsy, Progressive [Disease/Finding] | Supranuclear Palsy, Progressive, 1 | Syndrome, Richardson's | Syndrome, Steele-Richardson-Olszewski | palsy progressive supranuclear | progressive supranuclear ophthalmoplegia | progressive supranuclear ophthalmoplegia (diagnosis) | progressive supranuclear palsy | progressive supranuclear palsy (diagnosis) | supranuclear progressive palsy CSP2006:spastic weakness of the muscles innervated by the cranial nerves, i.e., the muscle of the face, pharynx, and tongue, due to bilateral lesions of the corticospinal tract. | MEDLINEPLUS_20151021:Progressive supranuclear palsy (PSP) is a rare brain disease. It affects brain cells that control the movement of your eyes. This leads to serious and permanent problems with balance and the way you walk. It usually occurs in middle-aged or elderly people. Symptoms are very different in each person, but may include personality changes, speech, vision and swallowing problems. Doctors sometimes confuse PSP with Parkinson's disease or Alzheimer's disease.
PSP has no cure and no effective treatments. Walking aids, special glasses and certain medicines might help somewhat. Although the disease gets worse over time, it isn't fatal on its own. However, PSP is dangerous because it increases your risk of pneumonia and choking from swallowing problems and injuries from falling.
NIH: National Institute of Neurological Disorders and Stroke
| MSH2017_2016_08_12:A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7) | NCI2016_02D:A rare neurodegenerative disorder characterized by gait and balance difficulties and loss of coordination of eye movements. | PSY2004:A progressive neurological disorder characterized by ophthalmoplegia, dystonia, memory impairment, personality disorders, and dementia. Etiology is unknown. ICD10CM_2017:G23.1|MSH2017_2016_08_12:D013494|OMIM2016_04_17:157140|OMIM2016_04_17:601104|SNOMEDCT_US_2016_09_01:192975003|SNOMEDCT_US_2016_09_01:192976002|SNOMEDCT_US_2016_09_01:28978003 C0005741 Blepharitis BLEPHARITIS | Blepharitides | Blepharitis | Blepharitis (disorder) | Blepharitis NOS | Blepharitis NOS (disorder) | Blepharitis [Disease/Finding] | Blepharitis, NOS | Blepharitis, unspecified | EYELID INFLAMMATION | Eyelid inflammation | Eyelid inflammation (disorder) | Eyelid inflammation NOS | Eyelid inflammation NOS (disorder) | Inflammation of eyelid | Inflammation of eyelid NOS | Inflammation of eyelid, NOS | Inflammation of eyelid, unspecified | Inflammation of eyelids | Inflammation of lid margin | Inflammation;eyelid | TARSITIS | Unspecified blepharitis | Unspecified blepharitis (disorder) | Unspecified inflammation of eyelid | blepharitis | blepharitis (diagnosis) | eyelid inflammation | eyelid inflammation (diagnosis) | eyelid; inflammation | inflammation eyelids | inflammation of eyelid | inflammation of the eyelid | inflammation; eyelid | tarsitis HPO2016_07_04:Inflammation of the eyelids. [HPO:probinson] | MSH2017_2016_08_12:Inflammation of the eyelids. | NCI2016_02D:Inflammation of the eyelids near the eyelashes.(NICHD) | NCI2016_NICHD_1602D:Inflammation of the eyelids near the eyelashes. HPO2016_07_04:HP:0000498|ICD10CM_2017:H01.0|ICD10CM_2017:H01.00|ICD10CM_2017:H01.9|ICD9CM_2014:373.0|ICD9CM_2014:373.00|ICD9CM_2014:373.9|MSH2017_2016_08_12:D001762|OMIM2016_04_17:MTHU036409|SNOMEDCT_US_2016_09_01:155170007|SNOMEDCT_US_2016_09_01:155171006|SNOMEDCT_US_2016_09_01:155175002|SNOMEDCT_US_2016_09_01:193907001|SNOMEDCT_US_2016_09_01:193908006|SNOMEDCT_US_2016_09_01:193909003|SNOMEDCT_US_2016_09_01:193910008|SNOMEDCT_US_2016_09_01:193925008|SNOMEDCT_US_2016_09_01:396712002|SNOMEDCT_US_2016_09_01:41446000 C0521509 Induration at injection site Induration at injection site | Induration at injection site (disorder) | Injection site induration | Injection site induration (disorder) SNOMEDCT_US_2016_09_01:213337005|SNOMEDCT_US_2016_09_01:95402002 C1846388 Cortical dysplasia of taylor, dysplasia only CDTD | CORTICAL DYSPLASIA OF TAYLOR WITHOUT BALLOON CELLS | CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY | Cortical Dysplasia of Taylor without Balloon Cells | Cortical Dysplasia of Taylor, Dysplasia Only MSH2017_2016_08_12:C564583|OMIM2016_04_17:607341 C3275445 X-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (disorder) | XMEN OMIM2016_04_17:300715|OMIM2016_04_17:300853|SNOMEDCT_US_2016_09_01:711481001 C1263748 Pyelonephritis diffuse Diffuse pyelonephritis | Diffuse pyelonephritis (diagnosis) | Diffuse pyelonephritis (disorder) | pyelonephritis diffuse SNOMEDCT_US_2016_09_01:123755001 C0019151 Hepatic encephalopathy ENCEPHALOPATHY HEPATIC | ENCEPHALOPATHY, HEPATIC | ENCEPHALOPATHY, PORTAL-SYSTEMIC | Encephalopathies, Hepatic | Encephalopathies, Hepatocerebral | Encephalopathies, Portal-Systemic | Encephalopathies, Portosystemic | Encephalopathy - hepatic | Encephalopathy hepatic | Encephalopathy, Hepatic | Encephalopathy, Hepatocerebral | Encephalopathy, Portal Systemic | Encephalopathy, Portal-Systemic | Encephalopathy, Portosystemic | Gaustad's syndrome | HE - Hepatic encephalopathy | HEPATIC ENCEPHALOPATHY | Hepatic Encephalopathies | Hepatic Encephalopathy | Hepatic Encephalopathy [Disease/Finding] | Hepatic encephalopathy | Hepatic encephalopathy (disorder) | Hepatic encephalopathy syndrome | Hepatocerebral Encephalopathies | Hepatocerebral Encephalopathy | Hepatocerebral encephalopathy | Hepatocerebral encephalopathy (disorder) | Hepatocerebral encephalopathy -RETIRED- | Portal Systemic Encephalopathy | Portal systemic encephalopathy | Portal systemic encephalopathy (disorder) | Portal-Systemic Encephalopathies | Portal-Systemic Encephalopathy | Portal-systemic encephalopathy | Portosystemic Encephalopathies | Portosystemic Encephalopathy | Portosystemic encephalopathy | Transient hepatargy syndrome | coma hepaticum | encephalopathy hepatic | encephalopathy portosystemic | encephalopathy; hepatic | encephalopathy; portosystemic | hepatic coma/encephalopathy | hepatic encephalopathy | hepatic encephalopathy (diagnosis) | hepatic; encephalopathy | hepatocerebral syndrome | portacaval encephalopathy | portal systemic encephalopathy | portal-systemic encephalopathy | portosystemic encephalopathy | portosystemic; encephalopathy CSP2006:syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts; clinical features include lethargy and confusion, frequently progressing to coma, asterixis, nystagmus, brisk oculovestibular reflexes, decorticate and decerebrate posturing, muscle spasticity, and bilateral extensor plantar reflexes. | HPO2016_07_04:Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. [HPO:probinson] | MSH2017_2016_08_12:A syndrome characterized by central nervous system dysfunction in association with LIVER FAILURE, including portal-systemic shunts. Clinical features include lethargy and CONFUSION (frequently progressing to COMA); ASTERIXIS; NYSTAGMUS, PATHOLOGIC; brisk oculovestibular reflexes; decorticate and decerebrate posturing; MUSCLE SPASTICITY; and bilateral extensor plantar reflexes (see REFLEX, BABINSKI). ELECTROENCEPHALOGRAPHY may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5) | NCI2016_02D:A constellation of signs and symptoms characterized by changes in personality, consciousness, and reflexes, resulting from neuropsychiatric abnormalities secondary to liver failure without evidence of other brain disease. HPO2016_07_04:HP:0002480|ICD9CM_2014:572.2|MSH2017_2016_08_12:D006501|OMIM2016_04_17:MTHU038294|SNOMEDCT_US_2016_09_01:123049003|SNOMEDCT_US_2016_09_01:13920009|SNOMEDCT_US_2016_09_01:197332007|SNOMEDCT_US_2016_09_01:449902003 C1833053 Proprotein convertase 1 3 deficiency OBESITY AND ENDOCRINOPATHY DUE TO IMPAIRED PROCESSING OF PROHORMONES | Obesity and Endocrinopathy due to Impaired Processing of Prohormones | PROPROTEIN CONVERTASE 1/3 DEFICIENCY | Proprotein Convertase 1 3 Deficiency MSH2017_2016_08_12:C563423|OMIM2016_04_17:162150|OMIM2016_04_17:600955 C2751292 Hypotrichosis and recurrent skin vesicles HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | Hypotrichosis And Recurrent Skin Vesicles MSH2017_2016_08_12:C567751|OMIM2016_04_17:613102 C0423757 Thin skin Skin thin | Skin thinness | Skin thinning of | Thin skin | Thin skin (finding) | Thinning of skin | skin texture thin | skin thin | skin thinning | thin skin | thin skin (physical finding) | thinning of skin | thinning skin HPO2016_07_04:Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. [HPO:probinson] HPO2016_07_04:HP:0000963|OMIM2016_04_17:MTHU005937|SNOMEDCT_US_2016_09_01:277797007 C0796202 Wittwer syndrome WITTWER SYNDROME | Wittwer syndrome JABL99:Mental retardation with multiple congenital abnormalities consisting of craniofacial anomalies, delayed development, skeletal anomalies, urogenital anomalies, and deformed hands. MSH2017_2016_08_12:C536737|OMIM2016_04_17:194190 C4273988 Benign adult familial myoclonic epilepsy Autosomal dominant cortical myoclonus and epilepsy | BAFME - Benign adult familial myoclonic epilepsy | Benign adult familial myoclonic epilepsy | Benign adult familial myoclonic epilepsy (disorder) | Benign adult familial myoclonus epilepsy SNOMEDCT_US_2016_09_01:An inherited epileptic syndrome characterised by cortical hand tremors, myoclonic jerks and occasional generalised or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high | SNOMEDCT_US_2016_09_01:An inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high SNOMEDCT_US_2016_09_01:717225001 C0574733 Rash rubelliform Rash rubelliform | Rubelliform eruption | Rubelliform eruption (disorder) | Rubelliform rash SNOMEDCT_US_2016_09_01:297958004 C4025000 Myocardial steatosis Myocardial steatosis HPO2016_07_04:Steatosis in the myocardium. [HPO:probinson] HPO2016_07_04:HP:0006693 C4024675 C1-c2 vertebral abnormality C1-C2 vertebral abnormality HPO2016_07_04:Any abnormality of the atlas and the axis. [HPO:probinson] HPO2016_07_04:HP:0008440 C1838420 Exostoses, multiple, type iii (disorder) EXOSTOSES, MULTIPLE, TYPE III | EXOSTOSES, MULTIPLE, TYPE III (disorder) | EXT3 | Exostoses, Multiple, Type III MSH2017_2016_08_12:C563975|OMIM2016_04_17:600209 C0543874 Apraxia, oculomotor, cogan type Apraxia, oculomotor, Cogan type | COMA | Cogan's oculomotor apraxia | Cogan's syndrome | Cogan's syndrome, type 2 | Cogan; oculomotor apraxia | Congenital Oculomotor Apraxia | Congenital oculomotor apraxia | OCULAR MOTOR APRAXIA | OCULOMOTOR APRAXIA, COGAN TYPE | Ocular motor apraxia syndrome | Oculomotor Apraxia, Cogan Type | Oculomotor apraxia | Oculomotor apraxia - Cogan type | Oculomotor apraxia - Cogan type (disorder) | SACCADE INITIATION FAILURE, CONGENITAL | Saccade initiation failure, congenital | oculomotor apraxia; Cogan MSH2017_2016_08_12:C537423|OMIM2016_04_17:257550|SNOMEDCT_US_2016_09_01:26018001|SNOMEDCT_US_2016_09_01:405809000 C0279661 Acinar cell carcinoma of pancreas Acinar Cell Adenocarcinoma of Pancreas | Acinar Cell Adenocarcinoma of the Pancreas | Acinar Cell Carcinoma of Pancreas | Acinar Cell Carcinoma of the Pancreas | Acinar cell carcinoma of pancreas | Pancreas Acinar Cell Adenocarcinoma | Pancreatic Acinar Cell Adenocarcinoma | Pancreatic Acinar Cell Carcinoma | acinar cell adenocarcinoma of the pancreas | acinar cell carcinoma of pancreas | acinar cell carcinoma of pancreas (diagnosis) | adenocarcinoma, acinar cell, pancreatic | pancreas cancer, acinar cell adenocarcinoma | pancreatic cancer, acinar cell adenocarcinoma NCI2016_02D:An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis. C0024694 Mandibular neoplasms MANDIBLE TUMOR | MANDIBULAR TUMOR | Mandibular Neoplasm | Mandibular Neoplasms | Mandibular Neoplasms [Disease/Finding] | Neoplasm of mandible | Neoplasm of mandible (disorder) | Neoplasm, Mandibular | Neoplasms, Mandibular | mandible tumor | mandibular tumor | neoplasm of mandible | neoplasm of mandible (diagnosis) | tumor of lower jaw | tumor of mandible MSH2017_2016_08_12:Tumors or cancer of the MANDIBLE. MSH2017_2016_08_12:D008339|SNOMEDCT_US_2016_09_01:126551000 C0751576 Partial paralysis (paresis) vocal cords Pareses, Vocal Cord | Paresis of vocal cords | Paresis of vocal cords (finding) | Paresis, Vocal Cord | Partial Paralysis (Paresis) Vocal Cords | Vocal Cord Pareses | Vocal Cord Paresis | Vocal cord paresis HPO2016_07_04:Decreased strength of the vocal folds. [HPO:probinson] HPO2016_07_04:HP:0001604|MSH2017_2016_08_12:D014826|OMIM2016_04_17:MTHU002849|SNOMEDCT_US_2016_09_01:129569008|SNOMEDCT_US_2016_09_01:302912005 C3280730 Epilepsy, familial temporal lobe, 5 EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 | ETL5 OMIM2016_04_17:609562|OMIM2016_04_17:614417 C1856899 Cutaneous albinism hermine phenotype Cutaneous albinism hermine phenotype | ERMINE PHENOTYPE | Ermine phenotype | O'Doherty syndrome | PIGMENTARY DISORDER WITH HEARING LOSS | Pigmentary disorder with hearing loss MSH2017_2016_08_12:C535508|OMIM2016_04_17:227010 C0343723 Neonatal chlamydial conjunctivitis Chlamydia conjunctivitis neonatal | Chlamydia; conjunctivitis, neonatal | Chlamydial Conjunctivitis | Chlamydial ophthalmia neonatorum | Inclusion Conjunctivitis | Neonatal Chlamydia Conjunctivitis | Neonatal chlamydial conjunctivitis | Neonatal chlamydial conjunctivitis (disorder) | Neonatal conjunctivitis due to chlamydiae | Ophthalmia neonatorum - chlamydial | conjunctivitis; Chlamydia, neonatal NCI2016_02D:Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery. | NCI2016_NICHD_1602D:Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery. ICD10CM_2017:P39.1|SNOMEDCT_US_2016_09_01:206351009|SNOMEDCT_US_2016_09_01:240591000 C1864871 Chromosome 17q21.31 deletion syndrome 17q21.31 Deletion Syndrome | 17q21.31 Microdeletion Syndrome | CHROMOSOME 17q21.31 DELETION SYNDROME | Chromosome 17q21.31 Deletion Syndrome | Chromosome 17q21.31 Microdeletion Syndrome | KDVS | KOOLEN-DE VRIES SYNDROME | Koolen De Vries syndrome | Koolen De Vries syndrome (disorder) | Koolen Syndrome | Koolen-De Vries Syndrome | MICRODELETION 17q21.31 SYNDROME | Microdeletion 17q21.31 Syndrome | Monosomy 17q21.31 SNOMEDCT_US_2016_09_01:A chromosomal anomaly characterised by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behaviour. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267. | SNOMEDCT_US_2016_09_01:A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behavior. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267. MSH2017_2016_08_12:C566476|OMIM2016_04_17:610443|OMIM2016_04_17:612452|SNOMEDCT_US_2016_09_01:717338006 C4021821 Abnormality of the urinary system Abnormality of the urinary system | Urinary tract abnormalities | Urinary tract abnormality | Urinary tract anomalies HPO2016_07_04:An abnormality of the urinary system. [HPO:probinson] HPO2016_07_04:HP:0000079 C1850168 Bruck syndrome 1 BRKS1 | BRUCK SYNDROME 1 | Bruck syndrome 1 | Osteogenesis imperfecta with congenital joint contractures MSH2017_2016_08_12:C537406|OMIM2016_04_17:259450|OMIM2016_04_17:607063 C0153459 Malignant neoplasm of body of pancreas Ca body of pancreas | Ca body of pancreas (disorder) | Malig neop body of pancreas | Malign tumor body of pancreas | Malign tumour body of pancreas | Malignant neoplasm of body of pancreas | Malignant tumor of body of pancreas | Malignant tumor of body of pancreas (disorder) | Malignant tumour of body of pancreas | malignant neoplasm of body of pancreas | malignant neoplasm of body of pancreas (diagnosis) | pancreatic neoplasm malignant body ICD10CM_2017:C25.1|ICD9CM_2014:157.1|SNOMEDCT_US_2016_09_01:154477005|SNOMEDCT_US_2016_09_01:187791002|SNOMEDCT_US_2016_09_01:269554007|SNOMEDCT_US_2016_09_01:93715005 C0265273 Achondrogenesis type 1a ACG1A | ACHONDROGENESIS, HOUSTON-HARRIS TYPE | ACHONDROGENESIS, TYPE IA | Achondrogenesis type 1A | Achondrogenesis, Houston-Harris type | Achondrogenesis, Type Ia | Achondrogenesis, type IA | Achondrogenesis, type IA (disorder) | Houston-Harris achondrogenesis MSH2017_2016_08_12:C536015|OMIM2016_04_17:200600|OMIM2016_04_17:604505|SNOMEDCT_US_2016_09_01:42725006 C0267809 Cirrhosis, cryptogenic CIRRHOSIS, CRYPTOGENIC | Cirrhosis, Cryptogenic | Cirrhosis, cryptogenic | Cryptogenic Cirrhosis | Cryptogenic cirrhosis | Cryptogenic cirrhosis (disorder) | Cryptogenic cirrhosis (of liver) | Cryptogenic cirrhosis of liver | cirrhosis cryptogenic | cryptogenic cirrhosis | cryptogenic cirrhosis (diagnosis) NCI2016_02D:Cirrhosis in which no causative agent can be identified. ICD10CM_2017:K74.69|MSH2017_2016_08_12:C562577|OMIM2016_04_17:148060|OMIM2016_04_17:148070|OMIM2016_04_17:215600|OMIM2016_04_17:MTHU026417|SNOMEDCT_US_2016_09_01:197309008|SNOMEDCT_US_2016_09_01:89580002 C0752165 Angioma, venous, central nervous system Angioma, Venous, Central Nervous System | Central Nervous System Venous Angioma | Central Nervous System Venous Angioma [Disease/Finding] | Venous Angioma, Central Nervous System MSH2017_2016_08_12:A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding. MSH2017_2016_08_12:D020787 C1836302 Carotid intimal medial thickness 1 CAROTID INTIMAL MEDIAL THICKNESS 1 | CIMT1 | Carotid Intimal Medial Thickness 1 | INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY | Intimal Medial Thickness of Internal Carotid Artery MSH2017_2016_08_12:C563733|OMIM2016_04_17:609338 C0158280 Cervical spinal stenosis CERVICAL SPINAL STENOSIS | Cervical spinal stenosis | Cervical spinal stenosis (disorder) | Spinal stenosis cervical | Spinal stenosis in cervical region | Spinal stenosis in cervical region (disorder) | Spinal stenosis, cervical region | Stenosis;spinal;cervical | cervical spinal stenosis | cervical spine stenosis | cervical spine stenosis (diagnosis) | spinal stenosis cervical ICD10CM_2017:M48.02|ICD9CM_2014:723.0|OMIM2016_04_17:MTHU051901|SNOMEDCT_US_2016_09_01:156640006|SNOMEDCT_US_2016_09_01:83561009 C0027743 Nerve compression syndrome Compression Syndrome, Nerve | Compression Syndromes, Nerve | Nerve Compression Syndrome | Nerve Compression Syndromes | Nerve Compression Syndromes [Disease/Finding] | Nerve compression syndrome | Syndrome, Nerve Compression | Syndromes, Nerve Compression | compression neuropathies | compression neuropathy | entrapment neuropathies | entrapment neuropathy | nerve compression syndrome | nerve compression syndromes | nerve entrapment syndrome | nerve trap | neuropathy entrapment | trap nerve | trapped nerve MSH2017_2016_08_12:Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect. MSH2017_2016_08_12:D009408 C4225238 Parkinson disease 22, autosomal dominant PARK22 | PARKINSON DISEASE 22, AUTOSOMAL DOMINANT OMIM2016_04_17:616244|OMIM2016_04_17:616710 C0020936 Imitative behaviors Behavior, Imitative | Behaviors, Imitative | Imitative Behavior | Imitative Behaviors | imitative behavior CSP2006:mimicking a behavior of one individual by another. | MSH2017_2016_08_12:The mimicking of the behavior of one individual by another. | MSHNOR2016:Det at en person etterligner en annens atferd. MSH2017_2016_08_12:D007100 C3553291 Hyperekplexia 2 HKPX2 | HYPEREKPLEXIA 2 OMIM2016_04_17:138492|OMIM2016_04_17:614619 C0011884 Diabetic retinopathy DIABETIC RETINOPATHY | DR | DR - Diabetic retinopathy | Diabetic Retinopathies | Diabetic Retinopathy | Diabetic Retinopathy [Disease/Finding] | Diabetic retinopathy | Diabetic retinopathy (disorder) | Diabetic retinopathy NOS | Diabetic retinopathy NOS (disorder) | Diabetic retinopathy, NOS | Retina abnormal - diabet-relat | Retinal abnormality - diabetes-related | Retinal abnormality - diabetes-related (disorder) | Retinopathies, Diabetic | Retinopathy - diabetic | Retinopathy diabetic | Retinopathy, Diabetic | Retinopathy, diabetic | Retinopathy;diabetic | diabetes mellitus with diabetic retinopathy | diabetes with diabetic retinopathy | diabetes with diabetic retinopathy (diagnosis) | diabetic retinopathy CSP2006:retinal changes occurring in diabetes mellitus, marked by microaneurysms, exudates, and hemorrhages, and sometimes by neovascularization. | MSH2017_2016_08_12:Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION. | NCI2016_02D:A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness. | NCI2016_NICHD_1602D:Disorder of the retina due to diabetes. ICD9CM_2014:362.0|MSH2017_2016_08_12:D003930|SNOMEDCT_US_2016_09_01:141196007|SNOMEDCT_US_2016_09_01:154678005|SNOMEDCT_US_2016_09_01:155107006|SNOMEDCT_US_2016_09_01:163997001|SNOMEDCT_US_2016_09_01:193353002|SNOMEDCT_US_2016_09_01:267471001|SNOMEDCT_US_2016_09_01:309595004|SNOMEDCT_US_2016_09_01:4855003 C0476273 Respiratory distress DISTRESS RESPIRATORY | Distress respiratory | Distress, Respiratory | Distressed breathing | Distressed respiration | RESPIRATORY DISTRESS | Respiratory Distress | Respiratory distress | Respiratory distress (finding) | [D]Respiratory distress | [D]Respiratory distress (context-dependent category) | [D]Respiratory distress (situation) | distress; respiratory | distressed breathing | distressed respirations | distressed respirations (diagnosis) | distressed respiratory | respiratory distress | respiratory; distress HPO2016_07_04:Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. [] | NCI2016_02D:A pathological increase in the effort and frequency of breathing movements. | NCI2016_NICHD_1602D:Increased work of breathing with tachypnea and retractions. HPO2016_07_04:HP:0002098|OMIM2016_04_17:MTHU001649|SNOMEDCT_US_2016_09_01:158377004|SNOMEDCT_US_2016_09_01:207055003|SNOMEDCT_US_2016_09_01:271825005 C1518355 Non-gestational ovarian choriocarcinoma Non-Gestational Ovarian Choriocarcinoma NCI2016_02D:A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma. C4024731 Flexion limitation of toes Flexion limitation of toes HPO2016_07_04:Limitation of the ability to bend the toes. [HPO:probinson] HPO2016_07_04:HP:0008116 C1720077 Micropsia due to organic disease Micropsia due to organic disease | Micropsia due to organic disease (disorder) SNOMEDCT_US_2016_09_01:422087002 C0005887 Disorder body image BODY IMAGE DISORDER | Body Dysmorphic Disorder | Body Dysmorphic Disorders | Body Dysmorphic Disorders [Disease/Finding] | Body Image Disfunction | Body Image Disfunctions | Body Image Disorder | Body Image Disorders | Body dysmorphic disorder | Body dysmorphic disorder (disorder) | Body image disorder | DISORDER BODY IMAGE | DISTORTION CORPOREAL | DISTORTION PERSONAL | Disfunction, Body Image | Disfunctions, Body Image | Disorder body image | Disorder, Body Dysmorphic | Disorders, Body Dysmorphic | Disorders, Body Image | Distortion corporeal | Distortion personal | Dysmorphic Disorder, Body | Dysmorphic Disorders, Body | Dysmorphophobia | Dysmorphophobia (disorder) | Dysmorphophobia (nondelusional) | Image Disfunction, Body | Image Disfunctions, Body | Image Disorders, Body | Nondelusional dysmorphophobia | body disorder dysmorphic | body disorders image | body dysmorphic disorder | body dysmorphic disorder (diagnosis) | body dysmorphic; disorder | body image disorder | disorder; body dysmorphic | dysmorphophobia | preoccupation w/ imagined physical defect (dysmorphophobia) | preoccupation with imagined physical defect | preoccupation with imagined physical defect (symptom) MSH2017_2016_08_12:Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning. | PSY2004:A preoccupation with a slight or imagined defect in appearance that causes significant distress or impairment in social, occupational, or other areas of functioning. Compare BODY IMAGE DISTURBANCES. ICD10CM_2017:F45.22|MSH2017_2016_08_12:D057215|SNOMEDCT_US_2016_09_01:313224008|SNOMEDCT_US_2016_09_01:83482000 C1845672 Mental retardation, x-linked 63 MENTAL RETARDATION, X-LINKED 63 | MENTAL RETARDATION, X-LINKED 68 | MRX63 | MRX68 | Mental Retardation, X-Linked 63 | Mental Retardation, X-Linked 68 MSH2017_2016_08_12:C564522|OMIM2016_04_17:300157|OMIM2016_04_17:300387 C2960633 Deep keratitis Deep keratitis | Deep keratitis (disorder) | deep keratitis | deep keratitis (diagnosis) | deep; keratitis | keratitis; deep SNOMEDCT_US_2016_09_01:445741003 C2987141 Pancreatic poorly differentiated ductal adenocarcinoma Pancreatic Poorly Differentiated Ductal Adenocarcinoma NCI2016_02D:A pancreatic ductal adenocarcinoma characterized by the presence of small and irregular malignant glandular structures, solid sheets of malignant cells, and single malignant cells. C1290613 Disease of upper gastrointestinal tract Disease of upper gastrointestinal tract | Disease of upper gastrointestinal tract (disorder) | Disorder of upper gastrointestinal tract | Disorder of upper gastrointestinal tract (disorder) SNOMEDCT_US_2016_09_01:119291004 C0042880 Vitamin k deficiency Deficiencies, Vitamin K | Deficiency of vitamin K | Deficiency of vitamin K (disorder) | Deficiency, Vitamin K | Hypovitaminosis K | VITAMIN K DEFICIENCY | Vitamin K Deficiencies | Vitamin K Deficiency | Vitamin K Deficiency Coagulation Disorder | Vitamin K Deficiency [Disease/Finding] | Vitamin K deficiency | Vitamin K deficiency (disorder) | Vitamin K deficiency disease | deficiencies k vitamin | deficiency k vitamin | deficiency of vitamin k | deficiency vitamin k | deficiency; vitamin K | disease vitamin k deficiency | k vitamin deficiency | of vitamin k deficiency | vitamin K deficiency | vitamin K deficiency (diagnosis) | vitamin k deficiencies | vitamin k deficiency CSP2006:condition due to a deficiency of vitamin K. | MSH2017_2016_08_12:A nutritional condition produced by a deficiency of VITAMIN K in the diet, characterized by an increased tendency to hemorrhage (HEMORRHAGIC DISORDERS). Such bleeding episodes may be particularly severe in newborn infants. (From Cecil Textbook of Medicine, 19th ed, p1182) | NCI2016_02D:Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding. HPO2016_07_04:HP:0011892|ICD10CM_2017:E56.1|ICD9CM_2014:269.0|MSH2017_2016_08_12:D014813|OMIM2016_04_17:MTHU023607|SNOMEDCT_US_2016_09_01:124892003|SNOMEDCT_US_2016_09_01:52675005 C1848519 Waardenburg syndrome, type 4a Hirschsprung disease with pigmentary anomaly | SHAH-WAARDENBURG SYNDROME | Shah Waardenburg syndrome | Shah-Waardenburg syndrome | WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A | WAARDENBURG SYNDROME, TYPE 4A | WAARDENBURG SYNDROME, TYPE IVA | WAARDENBURG-SHAH SYNDROME | WS4 | WS4A | Waardenburg Hirschsprung syndrome | Waardenburg Shah syndrome | Waardenburg Syndrome Type 4 | Waardenburg Syndrome Type IV | Waardenburg Syndrome With Hirschsprung Disease, Type 4a | Waardenburg Syndrome, Type 4a | Waardenburg Syndrome, Type Iva | Waardenburg syndrome co-occurrent with Hirschsprung disease | Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) | Waardenburg syndrome type 4 | Waardenburg syndrome, type 4 | Waardenburg-Hirschsprung disease | Waardenburg-Shah Syndrome | Waardenburg-Shah syndrome | waardenburg syndrome type iv | waardenburg syndrome type iv (diagnosis) NCI2016_02D:A rare, autosomal dominant or autosomal recessive syndrome caused by mutations in the SOX10, EDN3, or EDNRB genes. It is characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease. | SNOMEDCT_US_2016_09_01:The association of Waardenburg syndrome and Hirschsprung disease. Patients present in the neonatal period with pigmentary anomalies (including white forelock, white eyebrows and eyelashes, white skin patches and pigmentary anomalies of the irides) in association with intestinal obstruction. Neurosensorial deafness is common and early, and may be unilateral. Psychomotor development is normal. Three disease-causing genes have been identified so far: EDNRB (13q22.3) encoding the endothelin-B receptor, EDN3 (20q13.32) encoding an endothelin receptor ligand and SOX10 (22q13.1) encoding the SOX10 transcription factor. MSH2017_2016_08_12:C536467|OMIM2016_04_17:131244|OMIM2016_04_17:277580|SNOMEDCT_US_2016_09_01:715952000 C1844709 Second finger clinodactyly Radial deviation of the 2nd finger | Radially deviated index finger | Second finger clinodactyly HPO2016_07_04:Displacement of the 2nd finger towards the radial side. [HPO:curators] HPO2016_07_04:HP:0009467|OMIM2016_04_17:MTHU007869 C1960172 Maxillary cyst Maxillary cyst | Maxillary cyst (disorder) SNOMEDCT_US_2016_09_01:426190008 C3150942 Spondylocostal dysostosis 4, autosomal recessive SCDO4 | SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE OMIM2016_04_17:613686 C3899975 Bclc stage d hepatocellular carcinoma BCLC Stage D Hepatocellular Carcinoma | Barcelona Clinic Liver Cancer Stage D Hepatocellular Carcinoma NCI2016_02D:End-stage hepatocellular carcinoma. Patients will receive symptomatic treatment. (HPB (Oxford) 2005; 7(1):35-41) C4025309 Supernumerary vertebral ossification centers Supernumerary vertebral ossification centers HPO2016_07_04:Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine. [HPO:probinson] HPO2016_07_04:HP:0004598 C0541806 Breast discharge male BREAST DISCHARGE MALE | BREAST SECRETION MALE | Breast discharge male | Breast secretion male | DISCHARGE BREAST MALE | Discharge breast male | breast discharge male | breast male secretions C1260903 Dysfibrinogenemia Dysfibrinogenaemia | Dysfibrinogenemia | Dysfibrinogenemia (disorder) | Dysfibrinogenemia, NOS | dysfibrinogenaemia | dysfibrinogenemia | dysfibrinogenemias HPO2016_07_04:Qualitatively abnormal fibrinogen. [DDD:akelly] HPO2016_07_04:HP:0011901|SNOMEDCT_US_2016_09_01:111589005 C0018024 Goiter, retrosternal GOITER, RETROSTERNAL | GOITER, SUBSTERNAL | Goiter, Substernal | Goiter, Substernal [Disease/Finding] | Goiter, substernal | Goiters, Substernal | Intrathoracic goiter | Intrathoracic goitre | Retrosternal goiter | Retrosternal goitre | Retrosternal thyroid goiter | Retrosternal thyroid goitre | Substernal Goiter | Substernal Goiters | Substernal goiter | Substernal goiter (disorder) | Substernal goitre | Substernal thyroid goiter | Substernal thyroid goitre | goiter retrosternal | goiter substernal | goiters retrosternal | retrosternal goiter | retrosternal goitre | retrosternal thyroid; goiter | struma; retrosternal thyroid | substernal goiter | substernal goiter (diagnosis) MSH2017_2016_08_12:An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms. MSH2017_2016_08_12:D006045|SNOMEDCT_US_2016_09_01:190234009|SNOMEDCT_US_2016_09_01:66392007 C2047432 Hyperemesis gravidarum as antepartum condition hyperemesis gravidarum as antepartum condition | hyperemesis gravidarum as antepartum condition (diagnosis) C0751401 Ophthalmoparesis Extraocular muscle palsy | Extraocular muscle paralysis | Ophthalmopareses | Ophthalmoparesis | Weakness of extraocular eye movement | ophthalmoparesis HPO2016_07_04:Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. [HPO:curators] HPO2016_07_04:HP:0000597|MSH2017_2016_08_12:D009886|OMIM2016_04_17:MTHU001543|OMIM2016_04_17:MTHU029030 C0162361 Hidrotic ectodermal dysplasia Autosomal Dominant Hidrotic Ectodermal Dysplasia | CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA | CLOUSTON SYNDROME | Clouston | Clouston Hidrotic Ectodermal Dysplasia | Clouston Syndrome | Clouston syndrome | Clouston's Hidrotic Ectodermal Dysplasia | Clouston's Syndrome | Clouston's syndrome | Cloustons Syndrome | Dysplasia, Hidrotic Ectodermal | Dysplasia, Hydrotic Ectodermal | Dysplasias, Hidrotic Ectodermal | Dysplasias, Hydrotic Ectodermal | ECTD2 | ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE | ECTODERMAL DYSPLASIA, HIDROTIC | ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY | ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT | Ectodermal Dysplasia 2, Hidrotic | Ectodermal Dysplasia, Hidrotic | Ectodermal Dysplasia, Hidrotic, Autosomal Dominant | Ectodermal Dysplasia, Hydrotic | Ectodermal Dysplasias, Hydrotic | HED2, FORMERLY | Hidrotic Ectodermal Dysplasia | Hidrotic Ectodermal Dysplasia, Autosomal Dominant | Hidrotic Ectodermal Dysplasias | Hidrotic ectodermal dysplasia | Hidrotic ectodermal dysplasia syndrome | Hidrotic ectodermal dysplasia syndrome (disorder) | Hydrotic Ectodermal Dysplasia | Hydrotic Ectodermal Dysplasias | Syndrome, Clouston | Syndrome, Clouston's | clouston syndrome | dysplasia; ectodermal, hydrotic | ectodermal; dysplasia, hydrotic | hidrotic ectodermal dysplasia HPO2016_07_04:HP:0007529|MSH2017_2016_08_12:D004476|OMIM2016_04_17:129500|OMIM2016_04_17:604418|SNOMEDCT_US_2016_09_01:54209007 C3665419 Intracranial glioma Glioma of brain | Intracranial glioma | Intracranial glioma (diagnosis) | Intracranial glioma (disorder) | brain glioma | brain gliomas | glioma intracranial | gliomas intracranial | intracranial glioma SNOMEDCT_US_2016_09_01:254937005 C1836835 Hyporeflexia in the upper limbs Hyporeflexia in the upper limbs | Hyporeflexia of upper limbs HPO2016_07_04:Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. [HPO:probinson] HPO2016_07_04:HP:0012391|OMIM2016_04_17:MTHU001325 C0730292 Macular dystrophy Macular dystrophy | Macular dystrophy (disorder) | dystrophies macular | macular dystrophy HPO2016_07_04:Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. [HPO:probinson] HPO2016_07_04:HP:0007754|OMIM2016_04_17:MTHU013225|SNOMEDCT_US_2016_09_01:312919005 C0156347 Endometriosis intestine Endometriosis - intestine NOS | Endometriosis of intestine | Endometriosis of intestine (disorder) | Endometriosis of intestine, NOS | Endometriosis of the intestine NOS | Endometriosis of the intestine NOS (disorder) | bowel; endometriosis | endometriosis intestine | endometriosis intestines | endometriosis of intestine | endometriosis of intestine (diagnosis) | endometriosis; bowel | intestinal endometriosis ICD10CM_2017:N80.5|ICD9CM_2014:617.5|SNOMEDCT_US_2016_09_01:198255005|SNOMEDCT_US_2016_09_01:5562006 C0431124 Cellular schwannoma Cellular Neurilemmoma | Cellular Neurinoma | Cellular Schwannoma | Cellular Schwannoma (morphologic abnormality) | Cellular neurilemmoma | Cellular neurilemmoma (disorder) | Cellular schwannoma NCI2016_02D:A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies. SNOMEDCT_US_2016_09_01:253086004|SNOMEDCT_US_2016_09_01:404026003|SNOMEDCT_US_2016_09_01:985004 C1837792 Insulin-resistant diabetes mellitus at puberty Insulin-resistant diabetes mellitus at puberty HPO2016_07_04:HP:0000877|OMIM2016_04_17:MTHU002072 C0796019 Spastic paraplegia 23 (disorder) Abdallat Davis Farrage syndrome | Abdallat syndrome | LISON SYNDROME | Lison syndrome | SPASTIC PARAPARESIS, VITILIGO, PREMATURE GRAYING, CHARACTERISTIC FACIES | SPASTIC PARAPLEGIA 23 | SPASTIC PARAPLEGIA 23 (disorder) | SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES | SPG23 | Spastic Paraparesis, Vitiligo, Premature Graying, Characteristic Facies | Spastic Paraplegia With Pigmentary Abnormalities | Spastic paraplegia 23 | Spastic paraplegia and pigmentary abnormalities | Spastic paraplegia, vitiligo, premature graying and characteristic facies JABL99:Progressive spastic paresis, widespread skin pigmentation changes, characteristic facies, and mental retardation in some cases. MSH2017_2016_08_12:C536859|OMIM2016_04_17:270750 C0432337 Cutis laxa, recessive, type ii Cutis laxa, recessive, type II | Cutis laxa, recessive, type II (disorder) SNOMEDCT_US_2016_09_01:254223007 C0345218 Low anorectal malformation Low Anorectal Malformation | Low anorectal malformation | Low anorectal malformation (disorder) NCI2016_02D:Congenital malformations in the anorectal region that include the perineal fistula, anteriorly placed anus, and anorecto-vestibular fistula. SNOMEDCT_US_2016_09_01:253772005 C2675192 Spherocytosis, type 5 HS5 | SPH5 | SPHEROCYTOSIS, HEREDITARY, 5 | SPHEROCYTOSIS, TYPE 5 | Spherocytosis, Hereditary, 5 | Spherocytosis, Type 5 MSH2017_2016_08_12:C567202|OMIM2016_04_17:612690 C4020781 Fusion of the terminal and middle phalanges of the 5th finger Fusion of the terminal and middle phalanges of the 5th finger HPO2016_07_04:HP:0009244 C4024853 Increased number of skin folds Increased number of skin folds HPO2016_07_04:HP:0007522 C0004303 Auditory disease, central Auditory Disease, Central | Auditory Diseases, Central | Auditory Diseases, Central [Disease/Finding] | Auditory Dysfunction, Central | Auditory Pathway Disorders, Central | Central Auditory Disease | Central Auditory Diseases | Central Auditory Dysfunction | Central Auditory Pathway Disorders | Central auditory dysfunction | Dysfunction, Central Auditory | Dysfunctions, Central Auditory MSH2017_2016_08_12:Disorders of hearing or auditory perception due to pathological processes of the AUDITORY PATHWAYS in the CENTRAL NERVOUS SYSTEM. These include CENTRAL HEARING LOSS and AUDITORY PERCEPTUAL DISORDERS. MSH2017_2016_08_12:D001304|SNOMEDCT_US_2016_09_01:68467004 C2680447 Spg45 gene SPG45 | SPG45 gene | spastic paraplegia 45 (autosomal recessive) C2103078 Colonic and rectal disorders colonic and rectal disorders | colorectal disorders | colorectal disorders (diagnosis) C0278725 Small cell lung cancer limited stage Limited Stage Small Cell Carcinoma of Lung | Limited Stage Small Cell Carcinoma of the Lung | Limited Stage Small Cell Lung Carcinoma | SCLC, limited stage | Small cell lung cancer limited stage | limited stage SCLC | limited stage small cell lung cancer | limited-stage small cell lung cancer | lung cancer, limited stage small cell | oat cell lung cancer, limited stage | small cell carcinoma of lung with limited stage disease | small cell carcinoma of lung with limited stage disease (diagnosis) | small cell lung cancer, limited stage NCI2016_02D:Small cell lung carcinoma which is confined to one hemi-thorax and the regional lymph nodes. | NCI2016_NCI-GLOSS_1602D:Cancer is found in one lung, the tissues between the lungs, and nearby lymph nodes only. C3808977 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 CAMRQ4 | CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4 | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 OMIM2016_04_17:615268 C0008074 Child development disorders, pervasive Child Development Disorders, Pervasive | Child Development Disorders, Pervasive [Disease/Finding] | Pervasive Child Development Disorders MSH2017_2016_08_12:Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements. MSH2017_2016_08_12:D002659 C1846473 Absent metacarpal(s) Absent long bone of hand | Absent metacarpal | Absent metacarpal(s) | Absent metacarpals | Aplasia of metacarpal bones HPO2016_07_04:Developmental defect associated with absence of one or more metacarpal bones. [HPO:probinson] HPO2016_07_04:HP:0010048|OMIM2016_04_17:MTHU003489 C0333416 Granuloma sperm Sperm Granuloma | Sperm granuloma | Sperm granuloma (disorder) | Spermatogenic granuloma | Spermatogenic granuloma (morphologic abnormality) | granuloma sperm | sperm granuloma NCI2016_02D:A lump of extravasated sperm in the paratesticular region in men who have undergone vasectomy. SNOMEDCT_US_2016_09_01:112651005|SNOMEDCT_US_2016_09_01:428775009 C1336871 Meningioma of upper clivus Meningioma of Upper Clivus | Meningioma of the Upper Clivus | Upper Clivus Meningioma NCI2016_02D:A meningioma that affects the upper clivus. C1847197 Vascular malformation, primary intraosseous HEMANGIOMA, INTRAOSSEOUS | Hemangioma, Intraosseous | VASCULAR MALFORMATION OSSEOUS | VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS | VMOS | Vascular Malformation Osseous | Vascular Malformation, Primary Intraosseous MSH2017_2016_08_12:C564648|OMIM2016_04_17:606893 C1403035 Subcutaneous lipomas Subcutaneous lipoma | Subcutaneous lipomas | lipoma; subcutaneous | subcutaneous lipoma | subcutaneous lipoma of skin | subcutaneous lipoma of skin (diagnosis) | subcutaneous; lipoma HPO2016_07_04:The presence of subcutaneous lipoma. [HPO:probinson] HPO2016_07_04:HP:0001031|OMIM2016_04_17:MTHU017039 C1858573 Sparse pubic hair Decreased sexual hair | Sparse pubic hair | Sparse to absent pubic hair | sparse to absent pubic hair HPO2016_07_04:Reduced number or density of pubic hair. [HPO:probinson] HPO2016_07_04:HP:0002225|OMIM2016_04_17:MTHU004848|OMIM2016_04_17:MTHU008631 C3888825 Injection site joint erythema Injection site joint erythema C0271269 Keratitis in exanthema Keratitis in exanthema | Keratitis in exanthema (disorder) | Keratoconjunctivitis in exanthema | keratoconjunctivitis due to exanthema | keratoconjunctivitis due to exanthema (diagnosis) SNOMEDCT_US_2016_09_01:68166002 C2676786 Nephrolithiasis-osteoporosis, hypophosphatemic, 1 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 | NPHLOP1 | Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 MSH2017_2016_08_12:C567363|OMIM2016_04_17:182309|OMIM2016_04_17:612286 C1882062 Neoplastic disease NG - Neoplastic growth | NG - New growth | Neoplasia | Neoplasm | Neoplastic Syndrome | Neoplastic disease | Neoplastic disease (disorder) | Neoplastic disease, NOS | Neoplastic growth | Neoplastic syndrome | Neoplastic syndrome, NOS | New growth | Tumor Syndrome | neoplastic disease | neoplastic syndrome NCI2016_02D:A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. SNOMEDCT_US_2016_09_01:55342001 C0026686 Cysts salivary Cyst, sublingual | Mucocele of salivary gland | Mucocele of salivary gland (disorder) | Mucocele of salivary gland unspecified | Mucocele of salivary gland unspecified (disorder) | Mucocele salivary unsp. | Mucocoele of salivary gland | Mucocoele;salivary gland | Mucous retention cyst of salivary gland | Ptyalocele | Retention cyst of salivary gland | Salivary Cyst | Salivary cyst | Salivary gland mucocele | Salivary gland mucocele NOS | Salivary gland mucocele NOS (disorder) | Salivary gland mucocoele | Salivary mucocele | Sialocele | Sublingual cyst | cysts salivary | cysts sublingual | mucocele of salivary gland | mucocele of salivary gland (diagnosis) | mucocele; salivary gland | ranula | ranulas | salivary cyst | salivary gland mucocele | salivary gland mucocoele | salivary gland; mucocele | sialocele | sublingual cyst ICD10CM_2017:K11.6|ICD9CM_2014:527.6|SNOMEDCT_US_2016_09_01:196508008|SNOMEDCT_US_2016_09_01:196509000|SNOMEDCT_US_2016_09_01:196512002|SNOMEDCT_US_2016_09_01:69825009 C0349785 Psychogenic torticollis Psychogenic Torticollis | Psychogenic torticollis | Psychogenic torticollis (diagnosis) | Psychogenic torticollis (disorder) | Psychosomatic torticollis | Torticollis psychogenic | Torticollis, Psychogenic | psychogenic torticollis | torticollis psychogenic ICD10CM_2017:F45.8|MSH2017_2016_08_12:D014103|SNOMEDCT_US_2016_09_01:154925009|SNOMEDCT_US_2016_09_01:268774006|SNOMEDCT_US_2016_09_01:65438001 C4028879 Influenza a h9n2 with manifestations influenza A H9N2 with manifestations | influenza A H9N2 with manifestations (diagnosis) C0024517 Single major depressive episode DEPRESSIVE DISORDER MAJOR SINGLE EPISODE | Major depression, single episode | Major depression, single episode (disorder) | Major depression, single episode, NOS | Major depressive affective disorder, single episode, unspecified | Major depressive disorder, single episode | Major depressive disorder, single episode, unspecified | Major depressive disorder, single episode, unspecified degree | Major depressive disorder; single episode | Single Episode of Major Depressive Disorder | Single major depression NOS | Single major depression-unspec | Single major depressive episod | Single major depressive episode | Single major depressive episode (disorder) | Single major depressive episode NOS | Single major depressive episode NOS (disorder) | Single major depressive episode, unspecified | Single major depressive episode, unspecified (disorder) | depressive; episode, major | major depressive episode | single episode major depression | single episode major depression (diagnosis) ICD10CM_2017:F32|ICD10CM_2017:F32.9|ICD9CM_2014:296.2|ICD9CM_2014:296.20|SNOMEDCT_US_2016_09_01:191599006|SNOMEDCT_US_2016_09_01:191600009|SNOMEDCT_US_2016_09_01:191607007|SNOMEDCT_US_2016_09_01:192366006|SNOMEDCT_US_2016_09_01:268620009|SNOMEDCT_US_2016_09_01:36923009 C0041582 Ulcer ULCER | ULCERS | Ulcer | Ulcer (disorder) | Ulcer (morphologic abnormality) | Ulcer - lesion | Ulcer NOS | Ulcer [Disease/Finding] | Ulcer, NOS | Ulcerated | Ulcerating | Ulceration | Ulceration, NOS | Ulcerative | Ulcerative (qualifier value) | Ulcerative lesion | Ulcerative lesion, NOS | Ulcers | Ulcus | Ulcus, NOS | lesions ulcer | lesions ulcerative | lesions ulcers | ulcer | ulcer lesion | ulcerate | ulcerated | ulcerates | ulcerating | ulceration | ulcerations | ulcerative | ulceratives | ulcers CSP2006:local defect or excavation of the surface of an organ or tissue produced by the sloughing of inflammatory necrotic tissue. | MSH2017_2016_08_12:A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue. | NCI2016_02D:A circumscribed inflammatory and often suppurating lesion on the skin or an internal mucous surface resulting in necrosis of tissue. | NCI2016_CDISC_1602D:Destruction of an epithelial surface extending into or beyond the basement membrane. | NCI2016_NICHD_1602D:A circumscribed loss of integrity of the skin or mucous membrane. MSH2017_2016_08_12:D014456|SNOMEDCT_US_2016_09_01:255321001|SNOMEDCT_US_2016_09_01:429040005|SNOMEDCT_US_2016_09_01:56208002 C2004576 Vaginal melanoma Melanoma of Vagina | Melanoma of the Vagina | Vaginal Melanoma NCI2016_02D:A primary malignant neoplasm of the vagina composed of malignant melanocytes. C0043167 Pertussis Bordetella pertussis Infection, Respiratory | Bordetella; pertussis, whooping cough | Cough, Whooping | Infection due to Bordetella pertussis | PERTUSSIS | Pertusses | Pertussis | Pertussis (disorder) | WC - Whooping cough | Whooping Cough | Whooping Cough [Disease/Finding] | Whooping cough | Whooping cough due to B. pertussis | Whooping cough due to Bordetella pertussis | Whooping cough due to bordetella pertussis | Whooping cough due to bordetella pertussis (B. pertussis) | Whooping cough due to bordetella pertussis [B. pertussis] | Whooping cough, NOS | bordetella caused disease pertussis | disease caused by bordetella pertussis | infection; Bordetella pertussis | pertussis | pertussis due to Bordetella pertussis | pertussis due to Bordetella pertussis (diagnosis) | pertussis; Bordetella pertussis, whooping cough | whooping cough | whooping cough; Bordetella pertussis CHV2011_02:whooping cough due to bordetella pertussis | CSP2006:respiratory infection caused by Bordetella pertussis and characterized by paroxysmal coughing ending in a prolonged crowing intake of breath; whooping cough. | MSH2017_2016_08_12:A respiratory infection caused by BORDETELLA PERTUSSIS and characterized by paroxysmal coughing ending in a prolonged crowing intake of breath. | MSHFRE2016:Infection respiratoire provoqu茅e par Bordetella pertussis et caract茅ris茅e par des quintes de toux se terminant par une inspiration prolong茅e et sifflante en "chant du coq". | NCI2016_02D:A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough. | NCI2016_NCI-GLOSS_1602D:A serious bacterial infection of the lungs and breathing tubes that spreads easily. Pertussis begins like a cold, but develops into severe coughing and gasping for air. Long spells of coughing may cause vomiting, and broken blood vessels in the eyes and on the skin. | NCI2016_NICHD_1602D:A bacterial respiratory infection caused by Bordetella pertussis, which is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough. ICD10CM_2017:A37.0|ICD9CM_2014:033.0|MSH2017_2016_08_12:D014917|SNOMEDCT_US_2016_09_01:27836007 C1833499 Chondrocalcinosis with early-onset osteoarthritis (disorder) CCAL1 | CHONDROCALCINOSIS 1 | CHONDROCALCINOSIS WITH EARLY-ONSET OSTEOARTHRITIS | CHONDROCALCINOSIS WITH EARLY-ONSET OSTEOARTHRITIS (disorder) | Chondrocalcinosis 1 | Chondrocalcinosis with early-onset osteoarthritis MSH2017_2016_08_12:C535938|OMIM2016_04_17:600668 C0037672 Somnambulism Disorder;sleepwalking | LUNATISM | Lunatism | Nocturnal Wandering | SLEEP WALKING | SOMNAMBULISM | Sleep Walking | Sleep Walking Disorder | Sleep Walking Disorders | Sleep walking | Sleep walking disorder | Sleep walking disorder (disorder) | Sleepwalking | Sleepwalking (disorder) | Sleepwalking [somnambulism] | Sleepwalking disorder | Somnambulation | Somnambulism | Somnambulism [Disease/Finding] | Somnanbulism | Walking in sleep | Wandering, Nocturnal | nonorganic sleepwalking disorder | nonorganic sleepwalking disorder (diagnosis) | sleep walk | sleep walking | sleep walking disorder | sleeping walking | sleepwalk | sleepwalked | sleepwalking | sleepwalking (symptom) | sleepwalking disorder | sleepwalking disorder nonorganic | somnambulation | somnambulism | somnanbulism MSH2017_2016_08_12:A parasomnia characterized by a partial arousal that occurs during stage IV of non-REM sleep. Affected individuals exhibit semipurposeful behaviors such as ambulation and are difficult to fully awaken. Children are primarily affected, with a peak age range of 4-6 years. | NCI2016_02D:Repeated episodes of rising from bed and walking about during sleep; while sleepwalking, the individual has a blank stare and can be awakened only with great difficulty. On awakening, the individual has amnesia for the episode. | NCI2016_NICHD_1602D:Amnestic episodes of ambulation during sleep, during which the individual may unconsciously engage in other activities. ICD10CM_2017:F51.3|MSH2017_2016_08_12:D013009|SNOMEDCT_US_2016_09_01:154927001|SNOMEDCT_US_2016_09_01:192457006|SNOMEDCT_US_2016_09_01:268775007|SNOMEDCT_US_2016_09_01:80495009 C0576093 Knee joint valgus deformity GENU VALGUM | Genu Valga | Genu Valgas | Genu Valgum | Genu Valgum [Disease/Finding] | Genu Valgums | Genu valga | Genu valgum | Genu valgum (finding) | Genu valgus | Genua valga | Genua valgum | Knee joint valgus deformity | Knee joint valgus deformity (finding) | Knees, Knock | Knock Knee | Knock Knees | Knock knee | Knock kneed | Knock knees | Knock-knee | Knock-kneed | Knock-knees | Valga, Genu | Valgas, Genu | genu valgum | genu valgum (physical finding) | genu valgus | genu; valgum | genus valgus | knee knocked | knees knock | knees knocked | knock knee | knock kneed | knock knees | knock-knee | knock-kneed | knock-knees | valgum; genu HPO2016_07_04:The legs angle inward, such that the knees are close together and the ankles far apart. [HPO:probinson] | MSH2017_2016_08_12:An inward slant of the thigh in which the knees are close together and the ankles far apart. Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING). HPO2016_07_04:HP:0002857|ICD10CM_2017:M21.06|MSH2017_2016_08_12:D056304|OMIM2016_04_17:MTHU036368|OMIM2016_04_17:MTHU036724|OMIM2016_04_17:MTHU036728|OMIM2016_04_17:MTHU037067|OMIM2016_04_17:MTHU037348|SNOMEDCT_US_2016_09_01:203565000|SNOMEDCT_US_2016_09_01:299330008 C1842136 Deafness, autosomal dominant 49 (disorder) DEAFNESS, AUTOSOMAL DOMINANT 49 | DEAFNESS, AUTOSOMAL DOMINANT 49 (disorder) | DFNA49 | Deafness, Autosomal Dominant 49 MSH2017_2016_08_12:C564250|OMIM2016_04_17:608372 C4015728 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset IMNEPD | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET OMIM2016_04_17:608625|OMIM2016_04_17:616263 C0042782 Visceromegaly Visceromegaly | Visceromegaly (morphologic abnormality) HPO2016_07_04:Abnormal increased size of the viscera of the abdomen. [HPO:probinson] HPO2016_07_04:HP:0003271|OMIM2016_04_17:MTHU032587|SNOMEDCT_US_2016_09_01:28543008 C1863753 Limb-mammary syndrome LIMB-MAMMARY SYNDROME | LMS | Limb-mammary syndrome | Mammary hypoplasia, ectrodactyly, and other hand-foot anomalies MSH2017_2016_08_12:C535903|OMIM2016_04_17:603273|OMIM2016_04_17:603543 C0001206 Acromegaly ACROMEGALY | Acromegalia | Acromegaly | Acromegaly (disorder) | Acromegaly [Disease/Finding] | Anterior pituitary adenoma syndrome | Eosinophilic adenoma syndrome | Growth hormone hypersecretion syndrome | Hypersecretion Syndrome, Somatotropin (Acromegaly) | Hypersecretion Syndromes, Somatotropin (Acromegaly) | Inappropriate GH Secretion Syndrome (Acromegaly) | Inappropriate Growth Hormone Secretion Syndrome (Acromegaly) | Marie disease | Marie's syndrome | STH hypersecretion syndrome | Somatotropin Hypersecretion Syndrome (Acromegaly) | Somatotropin Hypersecretion Syndromes (Acromegaly) | Syndrome, Somatotropin Hypersecretion (Acromegaly) | Syndromes, Somatotropin Hypersecretion (Acromegaly) | acromegalia | acromegaly | acromegaly (diagnosis) | marie disease AIR93:WHAT: Acromegaly: Hypersecretion of growth hormone from a pituitary tumor resulting in insidious increase in the skeleton, soft tissues and organs. WHY: Acromegaly can result in an arthropathy with initial cartilage hypertrophy resulting in widening of the cartilage space on radiographs. The cartilage then undergoes premature osteoarthritis change with productive bony change characterized by broad distal tufts in the phalanges. | CSP2006:disorder caused by excessive secretion of somatotropin, characterized by bony enlargement of face, hands, feet, head and thorax. | MSH2017_2016_08_12:A condition caused by prolonged exposure to excessive HUMAN GROWTH HORMONE in adults. It is characterized by bony enlargement of the FACE; lower jaw (PROGNATHISM); hands; FEET; HEAD; and THORAX. The most common etiology is a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. (From Joynt, Clinical Neurology, 1992, Ch36, pp79-80) | NCI2016_02D:A syndrome characterized by enlargement of the hands, feet, ears, nose, lips, and tongue, skin thickening and swelling of internal organs. It is caused by overproduction of growth hormone in the pituitary gland, usually by a pituitary adenoma. | NCI2016_NCI-GLOSS_1602D:A condition in which the pituitary gland makes too much growth hormone after normal growth of the skeleton is finished. This causes the bones of the hands, feet, head, and face to grow larger than normal. Acromegaly can be caused by a pituitary gland tumor. | NCI2016_NICHD_1602D:A condition of excessive growth of body tissues due to overproduction of growth hormone. HPO2016_07_04:HP:0000845|MSH2017_2016_08_12:D000172|OMIM2016_04_17:MTHU016146|SNOMEDCT_US_2016_09_01:154698000|SNOMEDCT_US_2016_09_01:267480001|SNOMEDCT_US_2016_09_01:74107003 C4025111 Radial deviation of thumb terminal phalanx Radial deviation of thumb terminal phalanx HPO2016_07_04:HP:0005895 C3809768 Immunodeficiency 13 ICL | IDIOPATHIC CD4 LYMPHOPENIA | IMD13 | IMMUNODEFICIENCY 13 OMIM2016_04_17:615518 C1866077 Malignant hyperthermia, susceptibility to, 5 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 | MHS5 OMIM2016_04_17:114208|OMIM2016_04_17:601887 C0220658 Pfeiffer syndrome ACROCEPHALOSYNDACTYLY, TYPE V | ACS V | ACS5 | Acrocephalosyndactylies, Type V | Acrocephalosyndactyly Type V | Acrocephalosyndactyly type V | Acrocephalosyndactyly type V (disorder) | Acrocephalosyndactyly, Type V | CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA | Craniofacial-Skeletal-Dermatologic Dysplasia | NOACK SYNDROME | Noack Syndrome | Noack Syndromes | Oto-onychoperoneal syndrome | PFEIFFER SYNDROME | Pfeiffer Syndrome | Pfeiffer syndrome | Pfeiffer syndrome (disorder) | Pfeiffer syndrome - oto-onychoperoneal | Pfeiffer type acrocephalosyndactyly, type II | Pfeiffer's syndrome | Pfeiffer-type acrocephalosyndactyly | Syndrome, Noack | Syndrome, Pfeiffer | Syndromes, Noack | Type V Acrocephalosyndactylies | Type V Acrocephalosyndactyly | pfeiffer syndrome | pfeiffer's syndrome | pfeiffers syndrome NCI2016_02D:An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes. MSH2017_2016_08_12:D000168|OMIM2016_04_17:101600|OMIM2016_04_17:136350|OMIM2016_04_17:176943|SNOMEDCT_US_2016_09_01:70410008 C1333461 Esophageal mucoepidermoid carcinoma Esophageal Mucoepidermoid Carcinoma | Mucoepidermoid Carcinoma of Esophagus | Mucoepidermoid Carcinoma of the Esophagus | Mucoepidermoid Esophageal Carcinoma | Mucoepidermoid Esophagus Carcinoma | mucoepidermoid carcinoma of esophagus | mucoepidermoid carcinoma of esophagus (diagnosis) NCI2016_02D:A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO) C0235659 Reduced fetal movement Baby kicking less | Baby moving less | Decreased fetal activity | Decreased fetal movement | Decreased fetal movements | Decreased fetal movements, unspecified trimester, not applicable or unspecified | Decreased movement in utero | Decreased;foetal movement | FETAL ACTIVITY DECREASE | FETAL MOVEMENT DECREASED | FETAL MOVEMENTS DECREASED | FOETAL MOVEMENTS DECREASED | Fetal hypokinesia | Fetal movements decreased | Foetal hypokinesia | Foetal movements decreased | Low fetal movement | Low foetal movement | Reduced fetal movement | Reduced fetal movement (finding) | Reduced fetal movements | Reduced foetal movement | decreased fetal movement | decreased fetal movements | decreased fetal movements (symptom) | decreased foetal movement | fetal movement decreased | low fetal movement | reduced fetal movement | uterus fetal movement decreased | uterus fetal movement decreased (physical finding) HPO2016_07_04:An abnormal reduction in quantity or strength of fetal movements. [HPO:curators] HPO2016_07_04:HP:0001558|ICD10CM_2017:O36.81|ICD10CM_2017:O36.8190|OMIM2016_04_17:MTHU009012|OMIM2016_04_17:MTHU037032|OMIM2016_04_17:MTHU037783|OMIM2016_04_17:MTHU037915|OMIM2016_04_17:MTHU038242|OMIM2016_04_17:MTHU051295|SNOMEDCT_US_2016_09_01:199633001|SNOMEDCT_US_2016_09_01:276369006 C1858516 Microcephaly 4, primary, autosomal recessive MCPH4 | MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE | Microcephaly, Primary Autosomal Recessive, 4 MSH2017_2016_08_12:C565792|OMIM2016_04_17:604321|OMIM2016_04_17:609173 C4087386 Hypocomplementaemic urticarial vasculitis syndrome Hypocomplementaemic urticarial vasculitis syndrome | Hypocomplementemic urticarial vasculitis syndrome C0393677 Benign occipital epilepsy of childhood - late onset variant Benign occipital epilepsy of childhood - late onset variant | Benign occipital epilepsy of childhood - late onset variant (disorder) | Gestaut syndrome SNOMEDCT_US_2016_09_01:230388003 C0278713 Wilm's tumor, stage iii Stage III Kidney Wilms Tumor | Stage III Nephroblastoma | Stage III Renal Wilms Tumor | Stage III Renal Wilms' Tumor | Wilm's tumor, stage III | Wilms tumor, stage III | Wilms' tumor, stage III | nephroblastoma, stage III | stage III Wilm's tumor | stage III Wilms tumor | stage III Wilms' tumor | stage III nephroblastoma NCI2016_NCI-GLOSS_1602D:Cancer remains in the abdomen after surgery and at least one of the following is true: (1) cancer has spread to lymph nodes in the abdomen or pelvis (the part of the body between the hips); (2) cancer has spread to or through the surface of the peritoneum (the layer of tissue that lines the abdominal cavity and covers most organs in the abdomen); (3) a biopsy of the tumor was done during surgery to remove it; (4) the tumor was removed in more than one piece. C0265308 Baller-gerold syndrome BALLER-GEROLD SYNDROME | BGS | Baller-Gerold syndrome | Baller-Gerold syndrome (BGS) | Baller-Gerold syndrome (disorder) | CRANIOSYNOSTOSIS WITH RADIAL DEFECTS | CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME | Craniosynostosis radial aplasia syndrome | Craniosynostosis with radial defects | Craniosynostosis-Radial Aplasia Syndrome | Craniosynostosis-radial aplasia syndrome | baller gerold syndrome | baller-gerold syndrome | craniosynostosis-radial aplasia syndrome JABL99:A rare syndrome of craniosynostosis, radial aplasia, delayed psychomotor development, and variable craniofacial, cardiac, renal, and skeletal defects. MSH2017_2016_08_12:C536788|OMIM2016_04_17:218600|OMIM2016_04_17:603780|SNOMEDCT_US_2016_09_01:77608001 C0264565 Pleurisy, seropurulent Pleurisy, seropurulent | Seropurulent pleurisy | Seropurulent pleurisy (disorder) | pleurisy; seropurulent | seropurulent; pleurisy ICD10CM_2017:J86.9|SNOMEDCT_US_2016_09_01:78887005 C0033970 Time limited psychotherapy Brief Psychotherapies | Brief Psychotherapy | Brief psychotherapy | Psychotherapies, Brief | Psychotherapies, Short-Term | Psychotherapy, Brief | Psychotherapy, Short Term | Psychotherapy, Short-Term | Psychotherapy, brief | Short Term Psychotherapy | Short-Term Psychotherapies | Short-Term Psychotherapy | Time Limited Psychotherapy | brief psychotherapy | short term psychotherapy | time limited psychotherapy MSH2017_2016_08_12:Any form of psychotherapy designed to produce therapeutic change within a minimal amount of time, generally not more than 20 sessions. | PSY2004:Short-term or time-limited methods of psychotherapy. MSH2017_2016_08_12:D011614 C0278711 Wilm's tumor, stage i Stage I Kidney Wilms Tumor | Stage I Nephroblastoma | Stage I Renal Wilms Tumor | Stage I Renal Wilms' Tumor | Wilm's tumor, stage I | Wilms tumor, stage I | Wilms' tumor, stage I | nephroblastoma, stage I | stage I Wilm's tumor | stage I Wilms tumor | stage I Wilms' tumor | stage I nephroblastoma NCI2016_NCI-GLOSS_1602D:The tumor was completely removed by surgery and all of the following are true: (1) cancer was found only in the kidney and did not spread to blood vessels of the kidney; (2) the outer layer of the kidney did not break open; (3) the tumor did not break open; (4) a biopsy of the tumor was not done; and (5) no cancer cells were found at the edges of the area where the tumor was removed. C4053506 Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation ROHHAD | ROHHAD Syndrome | Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation NCI2016_02D:A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin. C3862458 Right trigeminal neuralgia Right trigeminal neuralgia | Right trigeminal neuralgia (disorder) | right trigeminal neuralgia | right trigeminal neuralgia (diagnosis) | trigeminal neuralgia right SNOMEDCT_US_2016_09_01:12242111000119105 C0598226 Harlequin type ichthyosis HARLEQUIN FETUS' | ARCI4B | Harlequin type ichthyosis | ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B | Ichthyosis congenita, Harlequin fetus type | Ichthyosis, Harlequin type MSH2017_2016_08_12:C538424|OMIM2016_04_17:242500|OMIM2016_04_17:607800 C4021806 Prelingual sensorineural hearing impairment Deafness, sensorineural, prelingual | Prelingual sensorineural deafness | Prelingual sensorineural hearing impairment HPO2016_07_04:A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. [HPO:probinson] HPO2016_07_04:HP:0000399 C0206648 Myofibromatosis Infantile Hemangiopericytoma | Infantile Myofibromatosis | Multicentric Myofibromatosis | Myofibromatoses | Myofibromatosis | Myofibromatosis (disorder) | Myofibromatosis (morphologic abnormality) | Myofibromatosis [Disease/Finding] | [M] Myofibromatosis | [M] Myofibromatosis (morphologic abnormality) | juvenile fibromatosis | myofibromatosis MSH2017_2016_08_12:A condition characterized by multiple formations of myofibromas (LEIOMYOMA). | NCI2016_02D:A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma. MSH2017_2016_08_12:D018224|OMIM2016_04_17:MTHU043892|SNOMEDCT_US_2016_09_01:134161008|SNOMEDCT_US_2016_09_01:238860001|SNOMEDCT_US_2016_09_01:253043004|SNOMEDCT_US_2016_09_01:73767002 C0020598 Hypocalcemia CALCIUM BLOOD DECREASED | Calcium deficiency disease | HYPOCALCAEMIA | HYPOCALCEMIA | Hypocalcaemia | Hypocalcaemia syndrome | Hypocalcemia | Hypocalcemia (disorder) | Hypocalcemia [Disease/Finding] | Hypocalcemia syndrome | Hypocalcemias | Low blood calcium levels | abnormally low blood calcium levels | hypocalcaemia | hypocalcemia | hypocalcemia (diagnosis) CSP2006:reduction of the blood calcium below normal; manifestations include hyperactive deep tendon reflexes, muscle and abdominal cramps, and carpopedal spasm. | HPO2016_07_04:An abnormally decreased calcium concentration in the blood. [HPO:curators] | MSH2017_2016_08_12:Reduction of the blood calcium below normal. Manifestations include hyperactive deep tendon reflexes, Chvostek's sign, muscle and abdominal cramps, and carpopedal spasm. (Dorland, 27th ed) | NCI2016_02D:Lower than normal levels of calcium in the circulating blood. | NCI2016_CTCAE_1602D:A disorder characterized by laboratory test results that indicate a low concentration of calcium in the blood. | NCI2016_NICHD_1602D:Abnormally low level of calcium in the blood. HPO2016_07_04:HP:0002901|ICD10CM_2017:E83.51|ICD9CM_2014:275.41|MSH2017_2016_08_12:D006996|SNOMEDCT_US_2016_09_01:154752005|SNOMEDCT_US_2016_09_01:267505006|SNOMEDCT_US_2016_09_01:5291005 C0020951 Immune complex diseases Disease, Immune Complex | Diseases, Immune Complex | Hypersensitivities, Type III | Hypersensitivity, Type III | Immune Complex Disease | Immune Complex Diseases | Immune Complex Diseases [Disease/Finding] | Immune complex disease | Immune complex diseases | Immune complex formation syndrome | Type III Hypersensitivities | Type III Hypersensitivity | hypersensitivity iii type | immune complex disease | immune complex diseases | type iii hypersensitivity CSP2006:group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. | MSH2017_2016_08_12:Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides SERUM SICKNESS and the ARTHUS REACTION, evidence supports a pathogenic role for immune complexes in many other IMMUNE SYSTEM DISEASES including GLOMERULONEPHRITIS, systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC) and POLYARTERITIS NODOSA. MSH2017_2016_08_12:D007105 C1276066 Atopic dermatitis of scalp Atopic dermatitis of scalp | Atopic dermatitis of scalp (disorder) | Atopic eczema of scalp SNOMEDCT_US_2016_09_01:402191000 C0155303 Toxic neuropathy optic Toxic optic neuropathy | Toxic optic neuropathy (disorder) | Toxic optic neuropathy [Ambiguous] | toxic neuropathy optic | toxic optic neuropathy | toxic optic neuropathy (diagnosis) ICD10CM_2017:H46.3|ICD9CM_2014:377.34|SNOMEDCT_US_2016_09_01:194053003|SNOMEDCT_US_2016_09_01:26125006 C0236780 Mixed bipolar i disorder Bipolar I disorder, most recent episode (or current) mixed, unspecified | Bipolar I disorder, most recent episode mixed | Bipolar affective disorder, mixed, unspecified degree | Mixed bipolar I disorder | Mixed bipolar I disorder (disorder) | Mixed bipolar I disorder, NOS | Mixed bipolar disorder, NOS | bipolar I disorder, most recent episode, mixed | bipolar I disorder, most recent episode, mixed (diagnosis) | disorder; bipolar, I, most recent episode, mixed ICD9CM_2014:296.60|SNOMEDCT_US_2016_09_01:16506000 C1266158 Nonseminomatous germ cell tumor Germ cell tumor, nonseminomatous | Germ cell tumor, nonseminomatous (morphologic abnormality) | Germ cell tumour, nonseminomatous | NONSEMINOMATOUS GERM CELL TUMORS | Non-seminomatous germ-cell tumors | Nonseminomatous germ cell tumor | nonseminomatous germ cell tumor | nonseminomatous germinoma | nonseminomatous germinoma (diagnosis) MSH2017_2016_08_12:C537844|OMIM2016_04_17:273300|SNOMEDCT_US_2016_09_01:128766005 C0238019 Carcinoma of extrahepatic bile duct BILE DUCT, EXTRAHEPATIC, CARCINOMA | Ca extrahepatic bile ducts | Ca extrahepatic bile ducts (disorder) | Carcinoma of Extrahepatic Bile Duct | Carcinoma of extrahepatic bile duct | Carcinoma of extrahepatic bile duct (disorder) | Carcinoma of the Extrahepatic Bile Duct | EXTRAHEPATIC BILE DUCT CANCER, CARCINOMA | Extrahepatic Bile Duct Cancer | Extrahepatic Bile Duct Carcinoma | Extrahepatic bile duct carcinoma | Extrahepatic bile duct carcinoma (disorder) | carcinoma of extrahepatic bile duct | carcinoma of extrahepatic bile duct (diagnosis) | extrahepatic bile duct cancer NCI2016_02D:A carcinoma that arises from the extrahepatic bile ducts. The majority are adenocarcinomas. | NCI2016_NCI-GLOSS_1602D:A rare cancer that forms in the part of the bile duct that is outside the liver. The bile duct is the tube that collects bile from the liver and joins a duct from the gallbladder to form the common bile duct, which carries bile into the small intestine when food is being digested. SNOMEDCT_US_2016_09_01:254603004|SNOMEDCT_US_2016_09_01:269551004|SNOMEDCT_US_2016_09_01:372101000|SNOMEDCT_US_2016_09_01:93790004 C0334389 Acinar cell adenoma ADENOMA, ACINAR CELL, BENIGN | Acinar Adenoma | Acinar Cell Adenoma | Acinar adenoma | Acinar cell adenoma | Acinar cell adenoma (morphologic abnormality) | Acinic Cell Adenoma | Acinic cell adenoma NCI2016_02D:A benign glandular epithelial neoplasm consisting of secretory cells forming acinar patterns. | NCI2016_CDISC_1602D:A benign glandular epithelial neoplasm comprising secretory cells forming acinar patterns. SNOMEDCT_US_2016_09_01:79041005 C0016788 Fucosidase deficiency disease A-fucosidase deficiency | ALPHA-L-FUCOSIDASE DEFICIENCY | Alpha-Fucosidase Deficiency | Alpha-L-fucosidase deficiency | Alpha-fucosidase deficiency | Deficiency Disease, Fucosidase | Deficiency Disease, alpha Fucosidase | Deficiency Disease, alpha L Fucosidase | Deficiency Disease, alpha-Fucosidase | Deficiency Disease, alpha-L-Fucosidase | Deficiency Diseases, Fucosidase | Deficiency Diseases, alpha-Fucosidase | Deficiency Diseases, alpha-L-Fucosidase | Disease, Fucosidase Deficiency | Disease, alpha-Fucosidase Deficiency | Disease, alpha-L-Fucosidase Deficiency | Diseases, Fucosidase Deficiency | Diseases, alpha-Fucosidase Deficiency | Diseases, alpha-L-Fucosidase Deficiency | FUCOSIDOSIS | Fucosidase Deficiency | Fucosidase Deficiency Disease | Fucosidase Deficiency Diseases | Fucosidase deficiency | Fucosidosis | Fucosidosis (disorder) | Fucosidosis [Disease/Finding] | Fucosidosis, NOS | alpha Fucosidase Deficiency Disease | alpha L Fucosidase Deficiency Disease | alpha fucosidase deficiency | alpha-Fucosidase Deficiency Disease | alpha-Fucosidase Deficiency Diseases | alpha-L-Fucosidase Deficiency | alpha-L-Fucosidase Deficiency Disease | alpha-L-Fucosidase Deficiency Diseases | alpha-L-fucosidase (FUCA) deficiency | alpha-L-fucosidase deficiency | fucosidosis | fucosidosis (diagnosis) | mucopolysaccharidosis F CSP2006:lysosomal storage disease caused by defective alpha-L-fucosidase and accumulation of fucose containing glycoconjugates; clinical symptoms include psychomotor deterioration, growth retardation, hepatosplenomegaly, cardiomegaly, and seizures. | JABL99:Lysosome storage disease due to alpha-L-fucosidase (E.C. 3.2.1.51) deficiency in leukocytes manifested by abnormal accumulation in tissues and urinary excretion of partially catabolized oligosaccharides, glycoasparagines, and glycolipids with alpha-linked fucose at the nonreducing end of the glycogen chain. The phenotype is variable and may include delayed growth and mental development, progressive neurological deterioration, Hurler-like (mucopolysaccharidosis I-H) coarse facies, recurrent infections, visceromegaly, skeletal abnormalities, joint contractures, deafness, and angiokeratoma corporis diffusum. Several types are recognized by different researchers. The form exhibiting a longer survival, mild neurological manifestations, and angiokeratoma is sometimes referred to as fucosidosis type II. In a different scheme, three different types are recognized according to their age of onset. Types I and II are the most severe and have their onsets at 10 and 18 months, respectively with life expectancy of 6 years. Type III represents a juvenile form which is marked by a milder form of psychomotor retardation and a slower deterioration of neurological activities. Hurler-like (gargyloid) facies occur mainly in types I and II and is less commonly in type III. | MSH2017_2016_08_12:An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31) | NCI2016_02D:An autosomal recessive lysosomal storage disease characterized by a defective alpha-L-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances. ICD10CM_2017:E77.1|MSH2017_2016_08_12:D005645|OMIM2016_04_17:230000|OMIM2016_04_17:612280|OMIM2016_04_17:MTHU012937|SNOMEDCT_US_2016_09_01:190937009|SNOMEDCT_US_2016_09_01:64716005 C0085677 Alcoholic neuropathy Alcohol Induced Peripheral Neuropathy | Alcohol Induced Polyneuropathy | Alcohol Related Autonomic Polyneuropathy | Alcohol Related Polyneuropathy | Alcohol-Induced Peripheral Neuropathies | Alcohol-Induced Peripheral Neuropathy | Alcohol-Induced Polyneuropathies | Alcohol-Induced Polyneuropathy | Alcohol-Related Autonomic Polyneuropathies | Alcohol-Related Autonomic Polyneuropathy | Alcohol-Related Polyneuropathies | Alcohol-Related Polyneuropathy | Alcohol-induced polyneuropathy | Alcohol-induced polyneuropathy (disorder) | Alcohol-induced polyneuropathy -RETIRED- | Alcohol-related polyneuropathy | Alcohol-related polyneuropathy (disorder) | Alcoholic Neuropathies | Alcoholic Neuropathy | Alcoholic Neuropathy [Disease/Finding] | Alcoholic Polyneuritides | Alcoholic Polyneuritis | Alcoholic Polyneuropathies | Alcoholic Polyneuropathy | Alcoholic peripheral neuropathy | Alcoholic polyneuropathy | Alcoholic polyneuropathy (disorder) | Autonomic Polyneuropathies, Alcohol-Related | Autonomic Polyneuropathy, Alcohol-Related | NEURITIS, ALCOHOLIC | NEUROPATHY PERIPHERAL ETOH | NEUROPATHY, ALCOHOLIC | Neuropathies, Alcohol-Induced Peripheral | Neuropathies, Alcoholic | Neuropathy, Alcohol-Induced Peripheral | Neuropathy, Alcoholic | Neuropathy, alcoholic | Neuropathy;alcoholic | POLYNEUROPATHY ALCOHOLIC | Peripheral Neuropathies, Alcohol-Induced | Peripheral Neuropathy, Alcohol Induced | Peripheral Neuropathy, Alcohol-Induced | Polyneuritides, Alcoholic | Polyneuritis, Alcoholic | Polyneuropathies, Alcohol-Induced | Polyneuropathies, Alcohol-Related | Polyneuropathies, Alcohol-Related Autonomic | Polyneuropathies, Alcoholic | Polyneuropathy alcoholic | Polyneuropathy, Alcohol-Induced | Polyneuropathy, Alcohol-Related | Polyneuropathy, Alcohol-Related Autonomic | Polyneuropathy, Alcoholic | alcohol; polyneuropathy | alcoholic neuritis | alcoholic neuropathies | alcoholic neuropathy | alcoholic peripheral neuropathy | alcoholic polyneuritis | alcoholic polyneuropathy | alcoholic polyneuropathy (diagnosis) | alcoholics neuropathy | alcoholics polyneuritis | polyneuropathy; alcohol | polyneuropathy; alcoholic MSH2017_2016_08_12:A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146) ICD10CM_2017:G62.1|ICD9CM_2014:357.5|MSH2017_2016_08_12:D020269|SNOMEDCT_US_2016_09_01:123050003|SNOMEDCT_US_2016_09_01:155083006|SNOMEDCT_US_2016_09_01:7916009 C0033968 Psychotherapeutic technique Psychotherapies | Psychotherapy | Psychotherapy (regime/therapy) | Psychotherapy (regime/therapy)(procedure) | Psychotherapy Services and Procedures | Psychotherapy, NOS | psychotherapeutic technique | psychotherapies | psychotherapy | talk therapy CSP2006:treatment of emotional, behavioral, personality, and psychiatric disorders based primarily upon verbal or nonverbal communication and interventions with the patient. | MSH2017_2016_08_12:A generic term for the treatment of mental illness or emotional disturbances primarily by verbal or nonverbal communication. | NCI2016_02D:A method of treating disease, esp. psychic disorders, by mental rather than pharmacological means (e.g., suggestion, re-education, hypnotism, and psychoanalysis). (Taber's) | NCI2016_NCI-GLOSS_1602D:Treatment of mental, emotional, personality, and behavioral disorders using methods such as discussion, listening, and counseling. MSH2017_2016_08_12:D011613|SNOMEDCT_US_2016_09_01:151615000|SNOMEDCT_US_2016_09_01:183380006|SNOMEDCT_US_2016_09_01:75516001 C1970461 Externally rotated/abducted legs Externally rotated/abducted legs HPO2016_07_04:HP:0003783|OMIM2016_04_17:MTHU019952 C0494827 Chronic bullous disease of childhood Benign chronic bullous dermatosis of childhood | Childhood Linear IgA Disease | Childhood linear IgA disease | Chronic Bullous Disease of Childhood | Chronic bullous dermatosis of childhood | Chronic bullous dermatosis of childhood (disorder) | Chronic bullous disease of childhood | Linear IgA bullous disease in children | Linear IgA bullous disease of childhood | bullous; disorder, chronic, childhood | chronic; bullous disease of childhood | disease (or disorder); bullous, chronic, childhood | disease (or disorder); chronic bullous of childhood NCI2016_02D:A blistering disorder characterized by linear deposition of IgA at the dermoepidermal junction. | NCI2016_NICHD_1602D:A blistering disorder characterized by linear deposition of IgA at the dermoepidermal junction. ICD10CM_2017:L12.2|MSH2017_2016_08_12:D062027|SNOMEDCT_US_2016_09_01:109250009 C4020969 Inflammatory abnormality of the eye Inflammatory abnormality of the eye | Ocular inflammation HPO2016_07_04:Inflammation of the eye, parts of the eye or the periorbital region. [HPO:sdoelken] HPO2016_07_04:HP:0100533 C1836193 Synostosis of carpal bones Carpal bone fusion | Fusion of carpal bones | Fusion of wrist bones | Synostosis of carpal bones HPO2016_07_04:HP:0005048|OMIM2016_04_17:MTHU000829 C3553288 Hyperekplexia 3 HKPX3 | HYPEREKPLEXIA 3 OMIM2016_04_17:614618 C0041234 Chagas disease American Trypanosomiasis | American trypanosomiasis | American trypanosomiasis NOS | American; trypanosomiasis | CHAGAS DISEASE | Chagas | Chagas Disease | Chagas Disease [Disease/Finding] | Chagas disease | Chagas disease (diagnosis) | Chagas' Disease | Chagas' disease | Chagas-Mazza disease | Disease, Chagas | Disease, Chagas' | Infection by Trypanosoma cruzi | Infection by Trypanosoma cruzi (disorder) | Infection caused by Trypanosoma cruzi | Infection caused by Trypanosoma cruzi (disorder) | South American Trypanosomiasis | South American trypanosomiasis | T.cruzi | TRYPANOSOMIASIS, AMERICAN | TRYPANOSOMIASIS, BRAZILIAN | Trypanosoma cruzi infection | Trypanosoma cruzi; infection | Trypanosomiasis, American | Trypanosomiasis, South American | chaga disease | chaga diseases | chagas disease | chagas diseases | chagas' disease | cruzi infection trypanosoma | disease chagas | infection by trypanosoma cruzi | infection; Trypanosoma cruzi | south American trypanosomiasis | t cruzi | t.cruzi | trypanosomiasis; American | trypanosomiasis; Trypanosoma cruzi MEDLINEPLUS_20151021:Chagas disease is caused by a parasite. It is common in Latin America but not in the United States. Infected blood-sucking bugs, sometimes called kissing bugs, spread it. When the bug bites you, usually on your face, it leaves behind infected waste. You can get the infection if you rub it in your eyes or nose, the bite wound or a cut. The disease can also spread through contaminated food, a blood transfusion, a donated organ or from mother to baby during pregnancy.
If you notice symptoms, they might include
These early symptoms usually go away. However, if you don't treat the infection, it stays in your body. Later, it can cause serious intestinal and heart problems.
A physical exam and blood tests can diagnose it. You may also need tests to see whether the disease has affected your intestines and heart.
Medicines can kill the parasite, especially early on. You can also treat related problems. For example, a pacemaker helps with certain heart complications.
Centers for Disease Control and Prevention
| MSH2017_2016_08_12:Infection with the protozoan parasite TRYPANOSOMA CRUZI, a form of TRYPANOSOMIASIS endemic in Central and South America. It is named after the Brazilian physician Carlos Chagas, who discovered the parasite. Infection by the parasite (positive serologic result only) is distinguished from the clinical manifestations that develop years later, such as destruction of PARASYMPATHETIC GANGLIA; CHAGAS CARDIOMYOPATHY; and dysfunction of the ESOPHAGUS or COLON. | NCI2016_02D:A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias. ICD10CM_2017:B57|ICD10CM_2017:B57.2|MSH2017_2016_08_12:D014355|SNOMEDCT_US_2016_09_01:77506005 C2751260 Macrothrombocytopenia Macrothrombocytopenia | Macrothrombozytopenia HPO2016_07_04:HP:0040185|OMIM2016_04_17:MTHU024610 C1837015 Ataxia, sensory, autosomal dominant ADSA | ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT | ATAXIA, SENSORY, AUTOSOMAL DOMINANT | Ataxia, Sensory, Autosomal Dominant | SNAX1 MSH2017_2016_08_12:C563818|OMIM2016_04_17:608984|OMIM2016_04_17:614649 C1334628 Malignant body of uterus mixed neoplasm Malignant Body of Uterus Mixed Neoplasm | Malignant Body of Uterus Mixed Tumor | Malignant Corpus Uteri Mixed Neoplasm | Malignant Corpus Uteri Mixed Tumor | Malignant Mixed Neoplasm of Body of Uterus | Malignant Mixed Neoplasm of Corpus Uteri | Malignant Mixed Neoplasm of Uterine Body | Malignant Mixed Neoplasm of Uterine Corpus | Malignant Mixed Neoplasm of the Body of Uterus | Malignant Mixed Neoplasm of the Corpus Uteri | Malignant Mixed Neoplasm of the Uterine Body | Malignant Mixed Neoplasm of the Uterine Corpus | Malignant Mixed Tumor of Body of Uterus | Malignant Mixed Tumor of Corpus Uteri | Malignant Mixed Tumor of Uterine Body | Malignant Mixed Tumor of Uterine Corpus | Malignant Mixed Tumor of the Body of Uterus | Malignant Mixed Tumor of the Corpus Uteri | Malignant Mixed Tumor of the Uterine Body | Malignant Mixed Tumor of the Uterine Corpus | Malignant Uterine Body Mixed Neoplasm | Malignant Uterine Body Mixed Tumor | Malignant Uterine Corpus Mixed Epithelial and Mesenchymal Neoplasm | Malignant Uterine Corpus Mixed Tumor NCI2016_02D:A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma. C1970187 Deafness, sensorineural, and male infertility CHROMOSOME 15q15.3 DELETION SYNDROME | Chromosome 15q15.3 Deletion Syndrome | Chromosome 15q15.3 deletion syndrome | DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY | DEAFNESS-INFERTILITY SYNDROME | DIS | Deafness infertility syndrome | Deafness, Sensorineural, And Male Infertility | Deafness-Infertility Syndrome | Sensorineural Deafness and Male Infertility | Sensorineural deafness and male infertility | Sensorineural deafness and male infertility (disorder) SCTSPA_2016_04_30:Sordera neurosensorial e infertilidad masculina causadas por deleci贸n del material gen茅tico en el brazo largo (q) del cromosoma 15. | SNOMEDCT_US_2016_09_01:Sensorineural deafness and male infertility caused by a deletion of genetic material on the long (q) arm of chromosome 15. MSH2017_2016_08_12:C567010|OMIM2016_04_17:611102|SNOMEDCT_US_2016_09_01:700489002 C0150993 Pitting of nails NAIL PITTED | NAIL PITTING | Nail Pitting | Nail pits | Nail pitting | Pitted nails | Pitting of nails | Pitting of nails (disorder) | nail pits | nail pitting | nail pitting was noted | nail; pitting | nails pitted | pitted nail | pitted nails | pitted nails (symptom) | pitting nail | pitting nails | pitting of nails | pitting of nails (physical finding) | pitting; nail HPO2016_07_04:Small (typically about 1 mm or less in size) depressions on the dorsal nail surface. [pmid:19125433] | NCI2016_02D:Depressions on the surface of the nail. This finding may be associated with psoriasis. HPO2016_07_04:HP:0001803|OMIM2016_04_17:MTHU004845|OMIM2016_04_17:MTHU007419|OMIM2016_04_17:MTHU015244|SNOMEDCT_US_2016_09_01:89704006 C0277124 Cutaneous larva migrans by ancylostoma caninum Cutaneous larva migrans by Ancylostoma caninum | Cutaneous larva migrans by Ancylostoma caninum (disorder) | Cutaneous larva migrans caused by Ancylostoma caninum | Cutaneous larva migrans caused by Ancylostoma caninum (disorder) SNOMEDCT_US_2016_09_01:73532000 C1850510 Sialidosis, type i SIALIDOSIS, TYPE I OMIM2016_04_17:256550|OMIM2016_04_17:608272 C3662049 Weakness of extremities as sequela of stroke Weakness of extremities as sequela of stroke | Weakness of extremities as sequela of stroke (disorder) SNOMEDCT_US_2016_09_01:92341000119107 C0037944 Spinal stenosis SPINAL STENOSIS | SS - Spinal stenosis | Spinal Stenoses | Spinal Stenosis | Spinal Stenosis [Disease/Finding] | Spinal stenoses | Spinal stenosis | Spinal stenosis (disorder) | Spinal stenosis NOS | Spinal stenosis NOS (disorder) | Spinal stenosis of unspecified region | Spinal stenosis of unspecified region (disorder) | Spinal stenosis unspec.region | Spinal stenosis, NOS | Spinal stenosis, site unspecified | Spinal stenosis, unspecified region | Stenoses, Spinal | Stenosis - spinal | Stenosis, Spinal | Stenosis;spinal | spinal narrowing | spinal stenosis | spinal stenosis (diagnosis) | spinal; stenosis | stenosis; spinal MEDLINEPLUS_20151021:Your spine, or backbone, protects your spinal cord and allows you to stand and bend. Spinal stenosis causes narrowing in your spine. The narrowing puts pressure on your nerves and spinal cord and can cause pain.
Spinal stenosis occurs mostly in people older than 50. Younger people with a spine injury or a narrow spinal canal are also at risk. Diseases such as arthritis and scoliosis can cause spinal stenosis, too. Symptoms might appear gradually or not at all. They include
Doctors diagnose spinal stenosis with a physical exam and imaging tests. Treatments include medications, physical therapy, braces, and surgery.
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
| MSH2017_2016_08_12:Narrowing of the spinal canal. ICD10CM_2017:M48.0|ICD10CM_2017:M48.00|ICD9CM_2014:724.00|MSH2017_2016_08_12:D013130|OMIM2016_04_17:MTHU038291|OMIM2016_04_17:MTHU038575|SNOMEDCT_US_2016_09_01:156646000|SNOMEDCT_US_2016_09_01:202780000|SNOMEDCT_US_2016_09_01:202781001|SNOMEDCT_US_2016_09_01:202791007|SNOMEDCT_US_2016_09_01:268082002|SNOMEDCT_US_2016_09_01:76107001 C1709153 Nasopharyngeal differentiated carcinoma Nasopharyngeal Differentiated Carcinoma | Nasopharyngeal Nonkeratinizing Differentiated Carcinoma NCI2016_02D:A nonkeratinizing nasopharyngeal carcinoma characterized by the presence of cells without prominent nucleoli, cellular stratification, and a lymphoplasmacytic infiltrate. C0221032 Familial generalized lipodystrophy BERARDINELLI-SEIP SYNDROME | Beradinelli-Seip syndrome | Berardinelli Seip Congenital Lipodystrophy | Berardinelli Seip Syndrome | Berardinelli lipodystrophy syndrome | Berardinelli lipodystrophy syndrome (disorder) | Berardinelli lipodystrophy syndrome -RETIRED- | Berardinelli syndrome | Berardinelli's syndrome | Berardinelli-Seip Congenital Lipodystrophy | Berardinelli-Seip Syndrome | Berardinelli-Seip congenital lipodystrophy | Berardinelli-Seip syndrome | Berardinelli-Seip-Lawrence syndrome | Brunzell Syndrome (with Bone Cysts) | Congenital Generalized Lipodystrophies | Congenital Generalized Lipodystrophy | Congenital Lipodystrophy, Berardinelli-Seip | Congenital generalised lipodystrophy | Congenital generalized lipodystrophy | Congenital lipo-atrophy | Congenital lipoatrophic diabetes | Congenital lipoatrophic diabetes (disorder) | Congenital lipoatrophic diabetes [Ambiguous] | Congenital lipodystrophic diabetes | Congenital lipodystrophy | Congenital total lipoatrophy | Congenital total lipoatrophy (disorder) | Congenital total lipodystrophy | Congenital total lipodystrophy (disorder) | Familial generalised lipodystrophy | Familial generalized lipodystrophy | Familial generalized lipodystrophy (disorder) | Familial generalized lipodystrophy (disorder) [Ambiguous] | Familial lipodystrophic diabetes | Generalised lipodystrophy | Generalized Lipodystrophies | Generalized Lipodystrophies, Congenital | Generalized Lipodystrophy | Generalized Lipodystrophy, Congenital | Generalized lipodystrophy | LAWRENCE SYNDROME | LIPODYSTROPHY, GENERALIZED | Lawrence syndrome | Lawrence-Seip syndrome | Lipoatrophic diabetes mellitus | Lipodystrophies, Congenital Generalized | Lipodystrophies, Generalized | Lipodystrophies, Total | Lipodystrophy congenital | Lipodystrophy of Berardinelli | Lipodystrophy with muscular hypertrophy | Lipodystrophy, Berardinelli-Seip Congenital | Lipodystrophy, Congenital Generalized | Lipodystrophy, Congenital Generalized [Disease/Finding] | Lipodystrophy, Generalized | Lipodystrophy, Total | Lipodystrophy, generalized | Miescher syndrome 2 | SEIP SYNDROME | SEIP-LAWRENCE SYNDROME | Seip Lawrence syndrome | Seip Lawrence syndrome (diagnosis) | Seip syndrome | Seip's syndrome | Seip-Lawrence syndrome | Syndrome, Berardinelli-Seip | Syndrome, Brunzell (with Bone Cysts) | Total Lipodystrophies | Total Lipodystrophy | Total lipoatrophy | Total lipodystrophy | Total lipodystrophy AND acromegaloid gigantism | Total lipodystrophy and acromegaloid gigantism | berardinelli syndrome | congenital lipoatrophic diabetes | congenital lipodystrophy | generalized lipodystrophy | lawrence-seip syndrome | lipoatrophic diabetes | lipoatrophic diabetes mellitus | lipodystrophy-acromegaloid gigantism syndrome HPO2016_07_04:Generalized degenerative changes of the fat tissue. [HPO:curators] | JABL99:The concurrence of generalized loss of body fat, diabetes mellitus, hepatomegaly, acanthosis nigricans, enlarged external genitalia, and increased rate of skeletal growth. This and Kobberling-Dunnigan syndrome share many common characteristics. | MSH2017_2016_08_12:Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA. | NCI2016_02D:A genetic disorder caused by mutations in the AGPAT2 and BSCL2 genes. It is characterized by lipoatrophy in the trunk, face, and extremities, hypertriglyceridemia, muscle hypertrophy, cardiomyopathy and hepatomegaly. Patients develop insulin resistance, leading to diabetes mellitus. HPO2016_07_04:HP:0009059|HPO2016_07_04:HP:0009064|MSH2017_2016_08_12:D052497|OMIM2016_04_17:MTHU002034|OMIM2016_04_17:MTHU042895|SNOMEDCT_US_2016_09_01:22940005|SNOMEDCT_US_2016_09_01:237607001|SNOMEDCT_US_2016_09_01:237609003|SNOMEDCT_US_2016_09_01:284449005|SNOMEDCT_US_2016_09_01:285369007|SNOMEDCT_US_2016_09_01:286289004|SNOMEDCT_US_2016_09_01:35824007|SNOMEDCT_US_2016_09_01:403423006|SNOMEDCT_US_2016_09_01:86907008 C1836184 Short femoral neck Femoral neck hypoplasia | Femoral neck, short | Hypoplasia of the femoral neck | Hypoplastic femoral neck | Short femoral neck | Short femoral necks | Short neck of thighbone | short femoral neck HPO2016_07_04:An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). [HPO:probinson] HPO2016_07_04:HP:0100864|OMIM2016_04_17:MTHU000820|OMIM2016_04_17:MTHU002791|OMIM2016_04_17:MTHU008583|OMIM2016_04_17:MTHU014081|OMIM2016_04_17:MTHU030995 C1370510 Chordoid meningioma Chordoid Meningioma | Chordoid meningioma | Meningioma, chordoid | Meningioma, chordoid (morphologic abnormality) NCI2016_02D:A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma. SNOMEDCT_US_2016_09_01:399709001|SNOMEDCT_US_2016_09_01:57606003 C4225333 Hypomagnesemia, seizures, and mental retardation HOMGSMR | HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION OMIM2016_04_17:607803|OMIM2016_04_17:616418 C1564560 Cartilage fracture Cartilage Fracture | Cartilage Fractures | Fracture, Cartilage | Fractures, Cartilage | Fractures, Cartilage [Disease/Finding] MSH2017_2016_08_12:Breaks in CARTILAGE. MSH2017_2016_08_12:D050724 C1959588 Angioma ANGIOMA | Angioma | Angioma (benign) | Angiomas | angioma | angiomas CHV2011_02:benign tumors that are made up of small blood vessels. | MSH2017_2016_08_12:A vascular anomaly due to proliferation of blood or lymphatic vessels that forms a tumor-like mass. Vessels in the angioma may or may not be dilated. MSH2017_2016_08_12:D006391|OMIM2016_04_17:MTHU049163 C0002390 Extrinsic allergic alveolitis ALVEOLITIS ALLERGIC | ALVEOLITIS, EXTRINSIC ALLERGIC | Allergic Alveolitides, Extrinsic | Allergic Alveolitis | Allergic Alveolitis, Extrinsic | Allergic Pneumonitis | Allergic alveolitis | Allergic alveolitis (extrinsic) NOS | Allergic alveolitis, NOS | Allergic extr.alveolitis NOS | Allergic extrinsic alveolitis NOS | Allergic extrinsic alveolitis NOS (disorder) | Allergic interstitial pneumonitis | Allergic interstitial pneumonitis, NOS | Allergic pneumonitis | Allergic pneumonitis, NOS | Alveolitides, Extrinsic Allergic | Alveolitis - allergic | Alveolitis allergic | Alveolitis extrinsic allergic | Alveolitis, Extrinsic Allergic | Alveolitis, Extrinsic Allergic [Disease/Finding] | Alveolitis, allergic | Baggasosis | EAA - Extrinsic allergic alveolitis | Extrinsic Allergic Alveolitides | Extrinsic Allergic Alveolitis | Extrinsic allergic alveolitis | Extrinsic allergic alveolitis (disorder) | Extrinsic allergic alveolitis, NOS | Extrinsic allergic bronchiolo-alveolitis | Extrinsic allergic bronchiolo-alveolitis, NOS | Extrinsic alveolitis, allergic | HYPERSENSITIVITY PNEUMONITIS | Hypersensit.pneumonitis NOS | Hypersensitivity Pneumonitides | Hypersensitivity Pneumonitis | Hypersensitivity pneumonia | Hypersensitivity pneumonia, NOS | Hypersensitivity pneumonitis | Hypersensitivity pneumonitis NOS | Hypersensitivity pneumonitis NOS (disorder) | Hypersensitivity pneumonitis, NOS | PNEUMONITIS ALLERGIC | PNEUMONITIS, ALLERGIC INTERSTITIAL | PNEUMONITIS, HYPERSENSITIVITY | Pneumonitides, Hypersensitivity | Pneumonitis allergic | Pneumonitis hypersensitivity | Pneumonitis, Hypersensitivity | Pneumonitis, allergic NOS | Unspecified allergic alveolitis and pneumonitis | allergic alveolitis | allergic pneumonitis | allergic; alveolitis | alveolitis allergic | alveolitis; allergic | extrinsic allergic alveolitis | hypersensitivity pneumonia | hypersensitivity pneumonitis | hypersensitivity pneumonitis (diagnosis) | hypersensitivity; pneumonitis | pneumonitis; hypersensitivity CSP2006:conditions in which inhalation of organic dusts results in hypersensitivity reactions at the alveolar level, associated with the production of precipitins. | MSH2017_2016_08_12:A common interstitial lung disease caused by hypersensitivity reactions of PULMONARY ALVEOLI after inhalation of and sensitization to environmental antigens of microbial, animal, or chemical sources. The disease is characterized by lymphocytic alveolitis and granulomatous pneumonitis. | NCI2016_02D:An inflammatory interstitial lung disease caused by hypersensitivity reaction to inhalation or ingestion of antigens. The antigens are usually related to the patient's occupation. It can present as an acute illness with flu-like symptoms, subacute with repeated episodes of pneumonia, or chronic with dyspnea and productive cough. The majority of patients recover following the cessation of the exposure to the antigen that causes the disease. Chronic exposure may eventually progress to interstitial lung fibrosis. HPO2016_07_04:HP:0006516|ICD10CM_2017:J67.9|ICD9CM_2014:495|ICD9CM_2014:495.9|MSH2017_2016_08_12:D000542|SNOMEDCT_US_2016_09_01:155581001|SNOMEDCT_US_2016_09_01:195993008|SNOMEDCT_US_2016_09_01:195994002|SNOMEDCT_US_2016_09_01:266399001|SNOMEDCT_US_2016_09_01:37471005 C0752282 Congenital structural myopathy Congenital Non Progressive Myopathies | Congenital Non-Progressive Myopathies | Congenital Non-Progressive Myopathy | Congenital Structural Myopathies | Congenital Structural Myopathy | Myopathies, Congenital Non-Progressive | Myopathies, Congenital Structural | Myopathies, Myotubular | Myopathies, Structural, Congenital | Myopathies, Structural, Congenital [Disease/Finding] | Myopathy, Congenital Non-Progressive | Myopathy, Congenital Structural | Myopathy, Myotubular | Myotubular Myopathies | Myotubular Myopathy | Non Progressive Myopathies, Congenital | Non-Progressive Myopathies, Congenital | Non-Progressive Myopathy, Congenital | Structural Myopathies, Congenital | Structural Myopathy, Congenital MSH2017_2016_08_12:A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality. | NCI2016_02D:A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills. MSH2017_2016_08_12:D020914 C1274820 Penile sclerosing lipogranuloma Penile sclerosing lipogranuloma | Penile sclerosing lipogranuloma (disorder) SNOMEDCT_US_2016_09_01:403473009 C0406443 Trachonychia NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1 | NDNC1 | ONYCHODYSTROPHY TOTALIS, ISOLATED | Onychodystrophy Totalis, Isolated | TWENTY-NAIL DYSTROPHY | Trachonychia | Twenty nail dystrophy | Twenty nail dystrophy (disorder) | Twenty-Nail Dystrophy | trachonychia | twenty nail dystrophy | twenty nail dystrophy (diagnosis) MSH2017_2016_08_12:C562907|OMIM2016_04_17:161050|SNOMEDCT_US_2016_09_01:238719003 C0263957 Bunion tailors Bunion, Tailor's | Bunion, Tailor's [Disease/Finding] | Bunion, Tailors | Bunionette | Bunionettes | Bunions, Tailor's | Tailor's Bunion | Tailor's Bunions | Tailor's bunion | Tailor's bunion (disorder) | Tailors Bunion | Tailors bunion | bunion tailors | bunionette | bunionette (physical finding) | bunionettes | bunions tailor | tailor bunion | tailor's bunion | tailor's bunion (diagnosis) | tailors bunion MSH2017_2016_08_12:Abnormal swelling of the outer aspect of the fifth metatarsal head affecting the fifth METATARSOPHALANGEAL JOINT. ICD10CM_2017:M21.62|MSH2017_2016_08_12:D050489|SNOMEDCT_US_2016_09_01:7951001 C0035229 Respiratory insufficiency Impairment;respiratory | RESPIRATORY FUNCTION IMPAIRED | RESPIRATORY INSUFFICIENCY | Respiratory Insufficiency | Respiratory Insufficiency [Disease/Finding] | Respiratory impairment | Respiratory insufficiency | Respiratory insufficiency (disorder) | Respiratory insufficiency [D] | Respiratory insufficiency [D] (finding) | Respiratory insufficiency [D] (situation) | Respiratory insufficiency, NOS | Respiratory insufficiency/failure | [D]Respiratory insufficiency | [D]Respiratory insufficiency (context-dependent category) | [D]Respiratory insufficiency (situation) | function impaired respiratory | impaired respiratory function | insufficiency respiratory | insufficiency; respiratory | progressive respiratory failure | respiratory function impaired | respiratory impairment | respiratory insufficiency | respiratory; insufficiency HPO2016_07_04:Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide. [HPO:probinson, MeSH:D012131] | MSH2017_2016_08_12:Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed) HPO2016_07_04:HP:0002093|MSH2017_2016_08_12:D012131|OMIM2016_04_17:MTHU000730|OMIM2016_04_17:MTHU015331|OMIM2016_04_17:MTHU042093|SNOMEDCT_US_2016_09_01:158378009|SNOMEDCT_US_2016_09_01:207056002|SNOMEDCT_US_2016_09_01:297107002|SNOMEDCT_US_2016_09_01:409623005|SNOMEDCT_US_2016_09_01:51395007 C1847827 Lig4 syndrome LIG4 SYNDROME | LIG4 Syndrome NCI2016_02D:A very rare genetic disorder caused by mutation in the LIG4 gene. It is characterized by unusual facial features, microcephaly, growth and developmental delay, severe immunodeficiency, and skin abnormalities. MSH2017_2016_08_12:C564694|OMIM2016_04_17:601837|OMIM2016_04_17:606593 C3854048 Erosive gastritis Erosive gastritis | Erosive gastritis (disorder) SNOMEDCT_US_2016_09_01:1086791000119100 C1368354 Mixed neoplasm MIXED TUMOR, UNDETERMINED | Mixed Neoplasm | Mixed Tumor | Tumor, Mixed NCI2016_02D:A neoplasm composed of at least two distinct cellular populations. | NCI2016_CDISC_1602D:A neoplasm composed of an epithelial component and/or a mesenchymal component, for which the malignancy status has not been established. A general term for which the transformed cell types have not been specified. C1334364 Large cell neuroendocrine carcinoma of thymus Large Cell Neuroendocrine Carcinoma of Thymus | Large Cell Neuroendocrine Carcinoma of the Thymus | Thymic Large Cell Neuroendocrine Carcinoma | Thymus Large Cell Carcinoma | large cell neuroendocrine carcinoma of thymus | large cell neuroendocrine carcinoma of thymus (diagnosis) NCI2016_02D:An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis. C0266267 Congenital hypoplasia of pancreas Congenital hypoplasia of pancreas | Congenital hypoplasia of pancreas (disorder) | Congenital small pancreas | Hypoplasia of pancreas | Hypoplastic pancreas | Pancreatic hypoplasia | Underdeveloped pancreas | hypoplasia of pancreas | hypoplasia of pancreas (diagnosis) | hypoplasia; pancreas | pancreas; hypoplasia HPO2016_07_04:Hypoplasia of the pancreas. [HPO:probinson] HPO2016_07_04:HP:0002594|SNOMEDCT_US_2016_09_01:68591005 C0447996 Maxillary torus Maxillary torus | Maxillary torus (body structure) | Maxillary torus present | Maxillary torus present (finding) HPO2016_07_04:HP:0100789|SNOMEDCT_US_2016_09_01:244683008|SNOMEDCT_US_2016_09_01:697945009 C0267601 Anismus Anismus | Anismus (disorder) | Rectosphincteric dyssynergia | Spastic pelvic floor syndrome | Sphincteric disobedience syndrome | Sphinteric disobedience syndrome | anismus SNOMEDCT_US_2016_09_01:83605009 C0234034 Venal concubinage Venal concubinage | Venal concubinage (finding) SNOMEDCT_US_2016_09_01:89357009 C0392548 Cauda equina syndrome CAUDA EQUINA SYNDROME | Cauda Equina Syndrome | Cauda Equina Syndromes | Cauda equina neuritis | Cauda equina syndrome | Cauda equina syndrome (disorder) | Cauda equina syndrome (disorder) [Ambiguous] | Cauda equina syndrome NOS | Cauda equina syndrome NOS (disorder) | Cauda equina syndrome, NOS | Lumbosacral syndrome | Polyneuritis equi | Syndrome, Cauda Equina | Syndromes, Cauda Equina | cauda equina syndrome | cauda equina syndrome (diagnosis) | cauda equina; syndrome | lumbosacral syndrome | syndrome cauda equina | syndrome; cauda equina NCI2016_02D:A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The clinical course rapidly deteriorates and necessitates emergent surgical decompression to minimize risk of incontinence, sexual dysfunction and permanent paralysis. ICD10CM_2017:G83.4|ICD9CM_2014:344.6|MSH2017_2016_08_12:D011128|OMIM2016_04_17:MTHU038829|SNOMEDCT_US_2016_09_01:155032006|SNOMEDCT_US_2016_09_01:192970008|SNOMEDCT_US_2016_09_01:192972000|SNOMEDCT_US_2016_09_01:192973005|SNOMEDCT_US_2016_09_01:89356000 C0854331 Dermatitis herpes simplex Herpes Simplex Dermatitis | Herpes simplex dermatitis | dermatitis herpes simplex | herpes simplex dermatitis NCI2016_02D:Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection. C3150860 Epilepsy, familial adult myoclonic, 3 CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 3 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 | Epilepsy, Familial Adult Myoclonic, 3 | FAME3 | FCMTE3 MSH2017_2016_08_12:C567098|OMIM2016_04_17:613608 C1708778 Mucoepidermoid carcinoma of lung Lung Mucoepidermoid Carcinoma | mucoepidermoid carcinoma of lung | mucoepidermoid carcinoma of lung (diagnosis) NCI2016_02D:A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells. C2678051 Mental retardation, x-linked 94 (disorder) MENTAL RETARDATION, X-LINKED 94 | MENTAL RETARDATION, X-LINKED 94 (disorder) | MENTAL RETARDATION, X-LINKED, SYNDROMIC 29 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE | MRX94 | MRXS29 | MRXSW | Mental Retardation, X-Linked 94 MSH2017_2016_08_12:C567479|OMIM2016_04_17:300699|OMIM2016_04_17:305915 C0162298 Joint stiffness JOINT STIFFNESS | Joint Stiffness | Joint stiffness | Joint stiffness (& [NOS]) | Joint stiffness (& [NOS]) (finding) | Joint stiffness (finding) | Joint stiffness (hands, shoulder, elbows, knees, and ankles) | Joint stiffness NOS | Joint stiffness NOS (finding) | Joint tightness | Mild joint stiffness | STIFFNESS JOINTS | Stiff joint | Stiff joints | Stiffness in joint | Stiffness joints | Stiffness;joint(s) | joint stiffness | joints stiff | joints stiffness | stiff joint | stiffness in joint | stiffness joint | stiffness joints | stiffness of joint | stiffness of joint (diagnosis) CSP2006:rigidity, resistance or inflexibility of the joints. | HPO2016_07_04:Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. [HPO:probinson] | NCI2016_02D:A sensation of discomfort and tightness while moving a joint. Typically there is decreased joint range of motion. Causes include arthritis, joint overuse, joint injury, and the aging process. | NCI2016_NICHD_1602D:A feeling of tension or tightness in one or more joints. HPO2016_07_04:HP:0001387|OMIM2016_04_17:MTHU002329|OMIM2016_04_17:MTHU002713|OMIM2016_04_17:MTHU011218|OMIM2016_04_17:MTHU034889|SNOMEDCT_US_2016_09_01:156603003|SNOMEDCT_US_2016_09_01:156613006|SNOMEDCT_US_2016_09_01:268067007|SNOMEDCT_US_2016_09_01:268069005|SNOMEDCT_US_2016_09_01:84445001 C0153440 Malignant neoplasm of splenic flexure of colon Ca splenic flexure - colon | Ca splenic flexure - colon (disorder) | Cancer of splenic flexure | Malignant neoplasm of splenic flexure | Malignant neoplasm of splenic flexure of colon | Malignant tumor of splenic flexure | Malignant tumor of splenic flexure (disorder) | Malignant tumour of splenic flexure | Splenic flexure colon cancer | malignant neoplasm of splenic flexure | malignant neoplasm of splenic flexure (diagnosis) | malignant tumor of splenic flexure ICD10CM_2017:C18.5|ICD9CM_2014:153.7|SNOMEDCT_US_2016_09_01:154461009|SNOMEDCT_US_2016_09_01:269540004|SNOMEDCT_US_2016_09_01:363413005|SNOMEDCT_US_2016_09_01:94072004 C3810212 Joubert syndrome 21 JBTS21 | JOUBERT SYNDROME 21 OMIM2016_04_17:611654|OMIM2016_04_17:615636 C1851996 Dwarfism tall vertebrae DWARFISM WITH TALL VERTEBRAE | Dwarfism tall vertebrae | Dwarfism with Tall Vertebrae | Dwarfism with disproportionately high vertebral bodies | Short stature and tall vertebrae MSH2017_2016_08_12:C535725|OMIM2016_04_17:126950 C1848654 Broad ribs Broad ribs | Wide ribs HPO2016_07_04:Increased width of ribs [HPO:probinson] HPO2016_07_04:HP:0000885|OMIM2016_04_17:MTHU002317|OMIM2016_04_17:MTHU008904 C1832814 Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ADRESD | RESDAD | ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, AUTOSOMAL DOMINANT | Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant MSH2017_2016_08_12:C563392|OMIM2016_04_17:245570 C0020676 Hypothyroidism Deficiencies, TSH | Deficiencies, Thyroid-Stimulating Hormone | Deficiency, TSH | Deficiency, Thyroid-Stimulating Hormone | HYPOTHYROID | HYPOTHYROIDISM | Hormone Deficiencies, Thyroid-Stimulating | Hormone Deficiency, Thyroid-Stimulating | Hypothyreosis | Hypothyroid | Hypothyroidism | Hypothyroidism (disorder) | Hypothyroidism NOS | Hypothyroidism NOS (disorder) | Hypothyroidism [Ambiguous] | Hypothyroidism [Disease/Finding] | Hypothyroidism, NOS | Hypothyroidism, unspecified | Hypothyroidisms | Low T4 | THYROID ACTIVITY DECREASED | TSH Deficiencies | TSH Deficiency | Thyroid Stimulating Hormone Deficiency | Thyroid activity decreased | Thyroid deficiency | Thyroid insufficiency | Thyroid-Stimulating Hormone Deficiencies | Thyroid-Stimulating Hormone Deficiency | Underactive Thyroid | Underactive thyroid | Unspecified acquired hypothyroidism | Unspecified hypothyroidism | deficiency; thyroid | hypothyroid | hypothyroidism | hypothyroidism (diagnosis) | hypothyroidisms | insufficiency; thyroid | subthyroidism | thyroid; deficiency | thyroid; insufficiency | underactive thyroid CSP2006:deficiency of thyroid gland activity; characterized by decreased basal metabolic rate, fatigue and lethargy, sensitivity to cold, and menstrual disturbances; untreated it progresses to myxedema; in infants severe hypothyroidism leads to cretinism. | HPO2016_07_04:Deficiency of thyroid hormone. [HPO:probinson] | MEDLINEPLUS_20151021:Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid gland is not active enough, it does not make enough thyroid hormone to meet your body's needs. This condition is hypothyroidism.
Hypothyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Hashimoto's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, congenital hypothyroidism, surgical removal of part or all of the thyroid, radiation treatment of the thyroid, and some medicines.
The symptoms can vary from person to person. They may include
To diagnose hypothyroidism, your doctor will look at your symptoms and blood tests. Treatment is with synthetic thyroid hormone, taken every day.
NIH: National I | MSH2017_2016_08_12:A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA. | NCI2016_02D:Abnormally low levels of thyroid hormone.(NICHD) | NCI2016_CTCAE_1602D:A disorder characterized by a decrease in production of thyroid hormone by the thyroid gland. | NCI2016_NCI-GLOSS_1602D:Too little thyroid hormone. Symptoms include weight gain, constipation, dry skin, and sensitivity to the cold. | NCI2016_NICHD_1602D:Abnormally low levels of thyroid hormone. HPO2016_07_04:HP:0000821|ICD10CM_2017:E03.9|ICD9CM_2014:244.9|MSH2017_2016_08_12:D007037|OMIM2016_04_17:MTHU002670|OMIM2016_04_17:MTHU025716|SNOMEDCT_US_2016_09_01:154660000|SNOMEDCT_US_2016_09_01:190274003|SNOMEDCT_US_2016_09_01:190290003|SNOMEDCT_US_2016_09_01:237572004|SNOMEDCT_US_2016_09_01:267377003|SNOMEDCT_US_2016_09_01:267465007|SNOMEDCT_US_2016_09_01:40930008 C4020957 Abnormal trabecular bone morphology Abnormal shape of spongy bone | Abnormal trabecular bone morphology | Abnormality of bone trabeculation HPO2016_07_04:Abnormal structure or form of trabecular bone. [HPO:probinson] HPO2016_07_04:HP:0100671 C0006131 Branchioma BRANCHIAL CLEFT CYST | BRANCHIAL CYSTS | Branchial Cleft Cyst | Branchial Cleft Cysts | Branchial Cyst | Branchial Cysts | Branchial cleft cyst | Branchial cleft cyst (disorder) | Branchial cleft cysts | Branchial cyst | Branchial cysts | Branchioma | Branchioma (morphologic abnormality) | Branchioma [Disease/Finding] | Branchiomas | Cleft Cyst, Branchial | Cleft Cysts, Branchial | Cyst of Branchial Cleft | Cyst of branchial cleft | Cyst of the Branchial Cleft | Cyst, Branchial | Cyst, Branchial Cleft | Cyst;branchial | Cysts, Branchial | Cysts, Branchial Cleft | branchial cleft cyst | branchial cleft cysts | branchial cleft; cyst | branchial cyst | branchial cyst (diagnosis) | branchial cysts | cyst branchial cleft | cyst; branchial cleft HPO2016_07_04:A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. [HPO:sdoelken] | MSH2017_2016_08_12:A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed) | NCI2016_02D:A congenital epithelial cyst that develops due to failure of obliteration of the second branchial cleft during embryonic development. It appears as a lump on the side of the neck. HPO2016_07_04:HP:0009796|ICD9CM_2014:744.42|MSH2017_2016_08_12:D001935|OMIM2016_04_17:113600|OMIM2016_04_17:MTHU001189|OMIM2016_04_17:MTHU049996|SNOMEDCT_US_2016_09_01:42362005|SNOMEDCT_US_2016_09_01:59857007 C0392163 Corneal erosion CORNEAL EROSION | Corneal erosion | Corneal erosion (disorder) | Corneal erosions | Superficial corneal ulcer | Superficial ulcer of cornea | cornea; erosion | corneal erosion | corneal erosion (physical finding) | corneal erosions HPO2016_07_04:An erosion or abrasion of the cornea's outermost layer of epithelial cells. [HPO:sdoelken] HPO2016_07_04:HP:0200020|OMIM2016_04_17:MTHU002179|SNOMEDCT_US_2016_09_01:50792001 C0003535 Aphakia, postcataract Aphakia, Postcataract | Aphakia, Postcataract [Disease/Finding] | Aphakias, Postcataract | Postcataract Aphakia | Postcataract Aphakias MSH2017_2016_08_12:Absence of the crystalline lens resulting from cataract extraction. MSH2017_2016_08_12:D001036 C0151632 Esr raised BLOOD SEDIMENTATION INCREASED | Blood sedimentation increased | ELEVATED SED RATE | ELEVATED SED RATE (ELEV SR) | ELEVATED SEDIMENTATION RATE | ERYTHROCYTE SEDIMENTATION INCR | ERYTHROCYTE SEDIMENTATION INCREASED | ERYTHROCYTE SEDIMENTATION RATE ELEVATED | ERYTHROCYTES SEDIMENTATION RATE INCREASED | ESR INCREASED | ESR increased | ESR raised | ESR raised (finding) | Elevated Sed Rate | Elevated erythrocyte sedimentation rate | Elevated erythrocyte sedimentation rate (finding) | Elevated sedimentation rate | Erythrocyte sedimentation incr | Erythrocyte sedimentation increased | Erythrocyte sedimentation rate (ESR) raised | Erythrocyte sedimentation rate (ESR) raised (finding) | Erythrocyte sedimentation rate high | Erythrocyte sedimentation rate incr | Erythrocyte sedimentation rate increased | Erythrocyte sedimentation rate raised | Erythrocyte sedimentation rate raised (finding) | Erythrocytes sedimentation rate increased | High erythrocyte sedimentation rate | Increased erythrocyte sedimentation rate | Increased erythrocyte sedimentation rate (ESR) | RBC SEDIMENTATION INCREASED | RBC sedimentation increased | RBC sedimentation rate increased | Raised ESR | Raised erythrocyte sedimentation rate | Red blood cell sedimentation rate increased | SEDIMENDATION RATE ERYTHROCYTES INCREASED | SEDIMENTATION RATE INCREASED | Sedimendation rate erythrocytes increased | Sedimentation rate increased | [D]Elevated sedimentation rate | [D]Elevated sedimentation rate (context-dependent category) | [D]Elevated sedimentation rate (situation) | elevated rate sed | elevated rates sed | elevated sed rate | elevated sedimentation rate | erythrocyte; sedimentation rate elevated | esr raised | increased esr | increased sedimentation rate | increased; erythrocyte sedimentation rate | raised esr | sed rate elevated | sedimentation rate; erythrocyte, increased HPO2016_07_04:HP:0003565|ICD10CM_2017:R70.0|ICD9CM_2014:790.1|OMIM2016_04_17:MTHU001689|OMIM2016_04_17:MTHU006273|OMIM2016_04_17:MTHU036840|OMIM2016_04_17:MTHU037690|OMIM2016_04_17:MTHU038225|SNOMEDCT_US_2016_09_01:158542000|SNOMEDCT_US_2016_09_01:165468009|SNOMEDCT_US_2016_09_01:207271006|SNOMEDCT_US_2016_09_01:416103000 C0854787 Non-resectable carcinoma of small bowel Non-Resectable Carcinoma of Small Bowel | Non-Resectable Carcinoma of Small Intestine | Non-Resectable Carcinoma of the Small Bowel | Non-Resectable Carcinoma of the Small Intestine | Non-Resectable Small Bowel Carcinoma | Non-Resectable Small Intestine Carcinoma | Small Intestine Carcinoma, Non-Resectable | Small intestine carcinoma non-resectable | Unresectable Small Intestinal Cancer | Unresectable Small Intestinal Carcinoma | Unresectable Small Intestine Carcinoma NCI2016_02D:Carcinoma of the small intestine not amendable to resection. C1860828 Cone-shaped epiphyses of middle phalanges Cone-shaped end part of the middle hand bones | Cone-shaped epiphyses (middle phalanges) | Cone-shaped epiphyses of middle phalanges | Cone-shaped epiphyses of the middle phalanges of the hand HPO2016_07_04:HP:0010259|OMIM2016_04_17:MTHU003739|OMIM2016_04_17:MTHU015198 C1865208 Anal atresia, hypospadias, and penoscrotal inversion ANAL ATRESIA, HYPOSPADIAS, AND PENOSCROTAL INVERSION | Anal Atresia, Hypospadias, and Penoscrotal Inversion MSH2017_2016_08_12:C566526|OMIM2016_04_17:602553 C3553636 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital ILNEB | INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL OMIM2016_04_17:605025|OMIM2016_04_17:614748 C4049701 Nephrotic syndrome - frequently relapsing FRNS | Frequently Relapsing Nephrotic Syndrome | Nephrotic Syndrome - Frequently Relapsing NCI2016_02D:Nephrotic syndrome in which there is relapse occurring two or more times in the first six months, or four or more times in a year.(NICHD) | NCI2016_NICHD_1602D:Nephrotic syndrome in which there is relapse occurring two or more times in the first six months, or four or more times in a year. C0546968 Fistula of branchial cleft Branchial cleft fistula | Branchial cleft fistulae | Branchial fistula | Fistula of branchial cleft | Fistula of branchial cleft (disorder) | branchial cleft fistula | branchial cleft; fistula | branchial fistula | branchial fistula (diagnosis) | fistula; branchial cleft HPO2016_07_04:A congenital fistula in the neck resulting from incomplete closure of a branchial cleft. [HPO:sdoelken] HPO2016_07_04:HP:0009795|OMIM2016_04_17:MTHU001190|SNOMEDCT_US_2016_09_01:204268008|SNOMEDCT_US_2016_09_01:7445000 C0014805 Primary erythermalgia ERYTHERMALGIA, PRIMARY | ERYTHROMELALGIA, FAMILIAL | ERYTHROMELALGIA, PRIMARY | Erythermalgia, Primary | Erythermalgias, Primary | Erythromelalgia Type II | Erythromelalgia, Familial | Erythromelalgia, Primary | Erythromelalgia, primary | Familial Erythromelalgia | Primary Erythermalgia | Primary Erythermalgias | Primary Erythromelalgia | Primary erythromelalgia | Primary erythromelalgia (disorder) NCI2016_02D:Erythromelalgia inherited as an autosomal dominant disorder and caused by mutations of the SCN9A gene. MSH2017_2016_08_12:D004916|OMIM2016_04_17:133020|OMIM2016_04_17:603415|SNOMEDCT_US_2016_09_01:403390002 C1839612 Myopia 1, x-linked MYOPIA 1, X-LINKED | MYP1 | Myopia 1 | Myopia, X-Linked MSH2017_2016_08_12:C564091|OMIM2016_04_17:310460 C1332575 Bone epithelioid hemangioma Bone Epithelioid Angioma | Bone Epithelioid Hemangioma | Epithelioid Angioma of Bone | Epithelioid Angioma of the Bone | Epithelioid Hemangioma of Bone | Epithelioid Hemangioma of the Bone | Osseous Epithelioid Angioma | Osseous Epithelioid Hemangioma NCI2016_02D:A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells. C4021651 Hypoplasia of the nasal bone Decreased size of nasal bone | Deficiency of nasal bone | Hypoplasia of the nasal bone | Hypotrophic nasal bone | Nasal bone hypoplasia | Small nasal bone | Underdevelopment of nasal bone HPO2016_07_04:Underdevelopment of the nasal bone. [HPO:probinson] HPO2016_07_04:HP:0004646 C3272463 Ampulla of vater undifferentiated carcinoma with osteoclast-like giant cells Ampulla of Vater Undifferentiated Carcinoma with Osteoclast-Like Giant Cells NCI2016_02D:A rare variant of undifferentiated carcinoma that arises from the ampulla of Vater. It is characterized by the presence of non-neoplastic, histiocytic, osteoclast-like multinucleated giant cells. C3553538 Brown-vialetto-van laere syndrome 2 BROWN-VIALETTO-VAN LAERE SYNDROME 2 | BVVLS2 OMIM2016_04_17:607882|OMIM2016_04_17:614707 C2750075 Chondrodysplasia, megarbane-dagher-melki type CHONDRODYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE | Chondrodysplasia, Megarbane-Dagher-Melki Type | SMDMDM | SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE MSH2017_2016_08_12:C567644|OMIM2016_04_17:613320|OMIM2016_04_17:614336 C3810200 Short-rib thoracic dysplasia 11 with or without polydactyly SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY | SRTD11 OMIM2016_04_17:613363|OMIM2016_04_17:615633 C0154575 Rumination disorders Disorder, Rumination | Disorders, Rumination | Rumination | Rumination Disorder | Rumination Disorders | Rumination disorder | Rumination disorder (disorder) | Rumination disorder, NOS | Ruminations | disorder; rumination | rumination | rumination disorder | rumination disorder (diagnosis) | rumination; disorder NCI2016_02D:An eating disorder most commonly observed in infants characterized by the repeated regurgitation and rechewing of food for a period of at least one month; this behavior is not associated with a gastrointestinal or other medical reason. | NCI2016_NICHD_1602D:Unintentional and reflexive regurgitation and rechewing of undigested food. ICD9CM_2014:307.53|MSH2017_2016_08_12:D019959|SNOMEDCT_US_2016_09_01:37941009 C3554448 Mental retardation, autosomal dominant 18 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 | MRD18 OMIM2016_04_17:614998|OMIM2016_04_17:615074 C1285427 Sequelae of disorders classified by disorder-system Sequelae of disorders classified by disorder-system | Sequelae of disorders classified by disorder-system (disorder) SNOMEDCT_US_2016_09_01:363296001 C2104679 Monckeberg's arteriosclerosis with rest pain Monckeberg's arteriosclerosis with rest pain | Monckeberg's arteriosclerosis with rest pain (diagnosis) C0023974 Loneliness Feeling lonely | Feeling lonely (finding) | Feeling;lonely | Loneliness | Lonely | feeling lonely | loneliness | loneliness (symptom) | lonely MSH2017_2016_08_12:The state of feeling sad or dejected as a result of lack of companionship or being separated from others. | NCI2016_02D:Sadness resulting from being isolated or alone. MSH2017_2016_08_12:D008132|SNOMEDCT_US_2016_09_01:139494004|SNOMEDCT_US_2016_09_01:162217002|SNOMEDCT_US_2016_09_01:267076002 C2106890 Pain due to vascular device, implant, or graft pain due to vascular device, implant, or graft | pain due to vascular device, implant, or graft (diagnosis) C0268347 Ehlers-danlos syndrome, type viii EDS VIII | EDS8 | EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE | EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE | EHLERS-DANLOS SYNDROME, TYPE VIII | Ehlers-Danlos Syndrome, Periodontitis Type | Ehlers-Danlos Syndrome, Periodontosis Type | Ehlers-Danlos Syndrome, Type VIII | Ehlers-Danlos syndrome type 8 | Ehlers-Danlos syndrome type VIII | Ehlers-Danlos syndrome, periodontitis type | Ehlers-Danlos syndrome, type 8 | Ehlers-Danlos syndrome, type 8 (disorder) | Ehlers-Danlos syndrome, type VIII | Ehlers-Danlos syndrome, type VIII (diagnosis) | Periodontitis associated with Ehlers-Danlos syndrome type VIII | type VIII Ehlers-Danlos syndrome MSH2017_2016_08_12:C562626|OMIM2016_04_17:130080|SNOMEDCT_US_2016_09_01:50869007 C1856979 Deep white matter hypodensities Deep white matter hypodensities HPO2016_07_04:Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter. [HPO:probinson, pmid:16239634] HPO2016_07_04:HP:0007321|OMIM2016_04_17:MTHU013153 C0010093 Corpus luteum cyst CORPUS LUTEUM CYST | CORPUS LUTEUM, CYST | Corpus Luteum Cyst | Corpus Luteum Cysts | Corpus luteum cyst | Corpus luteum cyst (disorder) | Corpus luteum cyst NOS | Corpus luteum cyst NOS (disorder) | Corpus luteum cyst unspecified | Corpus luteum cyst unspecified (disorder) | Cyst, Corpus Luteum | Cyst, corpus luteum | Cystic corpus luteum | Cysts, Corpus Luteum | Luteal cyst of ovary | Luteal cystic ovary disease | Luteal cystic ovary disease (disorder) | Lutein cyst | corpus cyst luteum | corpus luteum cyst | corpus luteum cyst (diagnosis) | corpus luteum cysts | corpus luteum; cyst | corpus luteum; cystic | cyst; lutein | cystic corpus luteum | cystic; corpus luteum | lutein cyst | lutein; cyst ICD10CM_2017:N83.1|MSH2017_2016_08_12:D010048|SNOMEDCT_US_2016_09_01:10452000|SNOMEDCT_US_2016_09_01:155998006|SNOMEDCT_US_2016_09_01:198294006|SNOMEDCT_US_2016_09_01:198295007|SNOMEDCT_US_2016_09_01:386762009|SNOMEDCT_US_2016_09_01:386763004 C0032343 Poisoning External cause codes: Poisoning | POISONINGS | Poisoning | Poisoning (disorder) | Poisoning (event) | Poisoning NOS | Poisoning [Disease/Finding] | Poisoning by | Poisoning syndrome | Poisoning syndrome, NOS | Poisoning, NOS | Poisonings | by poisoning | poisoning | poisoning (diagnosis) | poisoning by | poisonings CSP2006:condition or physical state produced by the ingestion, injection or inhalation of, or exposure to a deleterious agent. | MEDLINEPLUS_20151021:
A poison is any substance that is harmful to your body. You might swallow it, inhale it, inject it, or absorb it through your skin. Any substance can be poisonous if too much is taken. Poisons can include
The effects of poisoning range from short-term illness to brain damage, coma, and death. To prevent poisoning it is important to use and store products exactly as their labels say. Keep dangerous products where children can't get to them. Treatment for poisoning depends on the type of poison. If you suspect someone has been poisoned, call your local poison control center right away.
| MSH2017_2016_08_12:A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent. ICD10CM_2017:T65.91|MSH2017_2016_08_12:D011041|SNOMEDCT_US_2016_09_01:212498006|SNOMEDCT_US_2016_09_01:269262003|SNOMEDCT_US_2016_09_01:75478009 C1865810 Tremor, hereditary essential, 2 ETM2 | TREMOR, HEREDITARY ESSENTIAL, 2 | Tremor hereditary essential, 2 | Tremor, Hereditary Essential, 2 MSH2017_2016_08_12:C536546|OMIM2016_04_17:602134 C0266175 Jejunal atresia APPLE PEEL SMALL BOWEL SYNDROME | APPLE PEEL SYNDROME | APSB | Apple Peel Small Bowel Syndrome | Apple peel syndrome | Apple peel syndrome (disorder) | Apple-peel syndrome | Atresia of Jejunum | Atresia of jejunum | Atresia, Jejunal | Congenital Atresia of Jejunum | Congenital Jejunal Atresia | Congenital atresia of jejunum | Congenital atresia of jejunum (disorder) | Congenital atresia of jejunum (disorder) [Ambiguous] | Congenital intestinal atresia syndrome | Familial Apple Peel Jejunal Atresia | Hereditary atresia of jejunum | Imperforate jejunum | Imperforate jejunum (disorder) | JEJUNAL ATRESIA | Jejunal Atresia | Jejunal atresia | Jejunal atresia (disorder) | anomaly; apple peel syndrome | apple peel syndrome | apple peel syndrome; anomaly | apple-peel syndrome | atresia of jejunum | atresia of jejunum (diagnosis) | atresia; jejunum | imperforate; jejunum | jejunal atresia | jejunum atresia | jejunum; atresia | jejunum; imperforate HPO2016_07_04:A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum. [HPO:probinson] | NCI2016_02D:A congenital malformation characterized by the absence of a normal opening in a part of the jejunum. HPO2016_07_04:HP:0005235|ICD10CM_2017:Q41.1|MSH2017_2016_08_12:D007409|OMIM2016_04_17:243600|OMIM2016_04_17:MTHU045002|SNOMEDCT_US_2016_09_01:204693004|SNOMEDCT_US_2016_09_01:204702007|SNOMEDCT_US_2016_09_01:23768005|SNOMEDCT_US_2016_09_01:253765009|SNOMEDCT_US_2016_09_01:360491009|SNOMEDCT_US_2016_09_01:84296002 C1845604 Recurrent bacterial meningitis Recurrent bacterial meningitis HPO2016_07_04:An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis. [HPO:probinson] HPO2016_07_04:HP:0007274|OMIM2016_04_17:MTHU008317 C1962954 Cheilitis adverse event Cheilitis | Cheilitis Adverse Event C0027670 Neoplastic endocrine-like syndromes Ectopic Hormone Syndrome | Ectopic Hormone Syndromes | Endocrine Syndrome, Paraneoplastic | Neoplastic endocrine-like syndromes | Paraneoplastic Endocrine Syndrome | Paraneoplastic Endocrine Syndromes | Paraneoplastic Endocrine Syndromes [Disease/Finding] | Syndrome, Ectopic Hormone | Syndrome, Paraneoplastic Endocrine | Syndromes, Ectopic Hormone | Syndromes, Paraneoplastic Endocrine MSH2017_2016_08_12:Syndromes resulting from inappropriate production of HORMONES or hormone-like materials by NEOPLASMS in non-endocrine tissues or not by the usual ENDOCRINE GLANDS. Such hormone outputs are called ectopic hormone (HORMONES, ECTOPIC) secretion. MSH2017_2016_08_12:D009384 C0268630 Hyper-beta-alaninemia HYPER-BETA-ALANINEMIA | HYPERALANINEMIA | Hyper-Beta-Alaninemia | Hyper-beta-alaninaemia | Hyper-beta-alaninemia | Hyper-beta-alaninemia (disorder) | Hyperalaninaemia | Hyperalaninemia | hyper-B-alaninemia | hyper-B-alaninemia (diagnosis) HPO2016_07_04:An increased concentration of alanine in the blood. [HPO:gcarletti, pmid:16902722, pmid:4696900] HPO2016_07_04:HP:0003348|MSH2017_2016_08_12:C562684|OMIM2016_04_17:237400|SNOMEDCT_US_2016_09_01:2359002 C1334786 Mixed hepatoblastoma with teratoid features Mixed Hepatoblastoma with Teratoid Features NCI2016_02D:A hepatoblastoma characterized by the presence of mixed epithelial and mesenchymal components and additional tissues such as striated muscle, bone, epithelial tissues, and melanin pigment. C0001584 Adolescent psychology Adolescent Psychology | Adolescent psychology | Psychology, Adolescent | adolescent psychology MSH2017_2016_08_12:Field of psychology involving the study of normal and abnormal behavior of adolescents. It includes mental processes as well as observable responses. | PSY2004:Branch of developmental psychology devoted to the study and treatment of adolescents. Use a more specific term if possible. MSH2017_2016_08_12:D000297 C1851413 Exostoses, multiple, type ii EXOSTOSES, MULTIPLE, TYPE II | EXT2 | Exostoses, Multiple, Type II | multiple exostosis type II | multiple exostosis type II (diagnosis) MSH2017_2016_08_12:C538356|OMIM2016_04_17:133701|OMIM2016_04_17:608210 C0752138 Intracranial arterial diseases Arterial Disease, Intracranial | Arterial Diseases, Intracranial | Arterial Disorder, Intracranial | Arterial Disorders, Intracranial | Intracranial Arterial Disease | Intracranial Arterial Diseases | Intracranial Arterial Diseases [Disease/Finding] | Intracranial Arterial Disorder | Intracranial Arterial Disorders MSH2017_2016_08_12:Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes. MSH2017_2016_08_12:D020765 C0150055 Chronic pain Chronic Pain | Chronic Pain [Disease/Finding] | Chronic Pains | Chronic pain | Chronic pain (finding) | PAIN CHRONIC | Pain, Chronic | Pain;chronic | Pains, Chronic | chronic pain | chronic pain (diagnosis) | chronic; pain | pain; chronic | rndx chronic pain | rndx chronic pain (diagnosis) CCC2_5:Pain that persists over time | CSP2006:pain which has persisted over a long period of time; also use NTs for specific types of pain if appropriate. | HPO2016_07_04:Persistent pain, usually defined as pain that has laster longer than 3 to 6 months. [HPO:probinson, pmid:1875958] | MEDLINEPLUS_20151021:Pain is a feeling set off in the nervous system. Acute pain lets you know that you may be injured or have a problem you need to take care of. Chronic pain is different. The pain signals go on for weeks, months, or even years. The original cause may have been an injury or infection. There may be an ongoing cause of pain, such as arthritis or cancer. But in some cases there is no clear cause.
Problems that cause chronic pain include
Chronic pain usually cannot be cured. But treatments can help. They include medicines, acupuncture, electrical stimulation and surgery. Other treatments include psychotherapy, relaxation and meditation therapy, biofeedback, and behavior modification.
NIH: National Institute of Neurological Disorders and Stroke
| MSH2017_2016_08_12:Aching sensation that persists for more than a few months. It may or may not be associated with trauma or disease, and may persist after the initial injury has healed. Its localization, character, and timing are more vague than with acute pain. | NANDA-I_2015-2017:Unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage (International Association for the Study of Pain); sudden or slow onset of any intensity from mild to severe, constant or recurring without an anticipated or predictable end and a duration of greater than three (> 3) months. | NCI2016_02D:A longstanding unpleasant sensation associated with real or perceived physical or mental trauma. | NCI2016_NCI-GLOSS_1602D:Pain that can range from mild to severe, and persists or progresses over a long period of time. | NCI2016_NICHD_1602D:A longstanding unpleasant sensation. HPO2016_07_04:HP:0012532|ICD9CM_2014:338.2|MSH2017_2016_08_12:D059350|OMIM2016_04_17:MTHU036441|SNOMEDCT_US_2016_09_01:82423001 C0154730 Other cranial nerve disorders Disorders of other cranial nerves | Other cranial nerve disorders | Other cranial nerve disorders (disorder) ICD10CM_2017:G52|ICD9CM_2014:352|SNOMEDCT_US_2016_09_01:193098000 C4229090 Small facial bones Decreased size of facial bones | Decreased size of facial skeleton | Small facial bones | Small facial skeleton HPO2016_07_04:HP:0002692|OMIM2016_04_17:MTHU051402 C4225221 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 RADIOULNAR SYNOSTOSIS AND AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 | RUSAT2 OMIM2016_04_17:165215|OMIM2016_04_17:616738 C3806174 Bardet-biedl syndrome 18 BARDET-BIEDL SYNDROME 18 | BBS18 OMIM2016_04_17:615995 C3179093 Injuries, laryngeal nerve Injuries, Laryngeal Nerve | Injury, Laryngeal Nerve | Laryngeal Nerve Injuries | Laryngeal Nerve Injuries [Disease/Finding] | Laryngeal Nerve Injury | Laryngeal Nerve Trauma | Laryngeal Nerve Traumas | Laryngeal Neuropathies, Traumatic | Laryngeal Neuropathy, Traumatic | Nerve Injuries, Laryngeal | Nerve Injury, Laryngeal | Nerve Trauma, Laryngeal | Nerve Traumas, Laryngeal | Neuropathies, Traumatic Laryngeal | Neuropathy, Traumatic Laryngeal | Trauma, Laryngeal Nerve | Traumas, Laryngeal Nerve | Traumatic Laryngeal Neuropathies | Traumatic Laryngeal Neuropathy MSH2017_2016_08_12:Traumatic injuries to the LARYNGEAL NERVE. MSH2017_2016_08_12:D061224 C4024803 Posterior retinal neovascularization Neovascularization of peripheral and posterior retina | Posterior retinal neovascularisation | Posterior retinal neovascularization HPO2016_07_04:A type of retinal neovascularization that affects the posterior pole of the retina. [HPO:probinson] HPO2016_07_04:HP:0007778 C0008479 Chondrosarcoma CHONDROSARCOMA | CHONDROSARCOMA, MALIGNANT | Chondroma sarcomatosum | Chondrosarcoma | Chondrosarcoma (disorder) | Chondrosarcoma (morphologic abnormality) | Chondrosarcoma NOS | Chondrosarcoma [Disease/Finding] | Chondrosarcoma morphology | Chondrosarcoma, NOS | Chondrosarcoma, no ICD-O subtype | Chondrosarcoma, no ICD-O subtype (morphologic abnormality) | Chondrosarcoma, no International Classification of Diseases for Oncology subtype | Chondrosarcoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) | Chondrosarcomas | [M]Chondrosarcoma NOS | [M]Chondrosarcoma NOS (morphologic abnormality) | chondrosarcoma | chondrosarcoma (diagnosis) | chondrosarcoma; (site unspecified) | chondrosarcomas | malignant neoplasm chondrosarcoma HPO2016_07_04:A slowly growing malignant neoplasm derived from cartilage cells. [HPO:probinson] | MSH2017_2016_08_12:A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed) | NCI2016_02D:A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion. | NCI2016_CDISC_1602D:A malignant mesenchymal neoplasm arising from cartilage-forming tissues. | NCI2016_NCI-GLOSS_1602D:A type of cancer that forms in bone cartilage. It usually starts in the pelvis (between the hip bones), the shoulder, the ribs, or at the ends of the long bones of the arms and legs. A rare type of chondrosarcoma called extraskeletal chondrosarcoma does not form in bone cartilage. Instead, it forms in the soft tissues of the upper part of the arms and legs. Chondrosarcoma can occur at any age but is more common in people older than 40 years. It is a type of bone cancer. HPO2016_07_04:HP:0006765|MSH2017_2016_08_12:D002813|OMIM2016_04_17:215300|SNOMEDCT_US_2016_09_01:14990007|SNOMEDCT_US_2016_09_01:189886003|SNOMEDCT_US_2016_09_01:443520009 C0699748 Pathogenesis Pathogeneses | Pathogeneses (qualifier value) | Pathogenesis | Pathogenesis (attribute) | pathogeneses | pathogenesis CHV2011_02:specific processes that generate the ability of an organism to cause disease | GO2016_05_01:The set of specific processes that generate the ability of an organism to cause disease in another. [GOC:go_curators] | NCI2016_02D:The pathologic, physiologic, or biochemical mechanism resulting in the development of a disease or morbid process. SNOMEDCT_US_2016_09_01:263547006|SNOMEDCT_US_2016_09_01:303109001 C0018206 Granulosa cell tumor GRANULOSA CELL TUMOR, UNDETERMINED | Granulosa Cell Neoplasm | Granulosa Cell Tumor | Granulosa Cell Tumor [Disease/Finding] | Granulosa Cell Tumors | Granulosa cell tumor | Granulosa cell tumor (morphologic abnormality) | Granulosa cell tumor NOS | Granulosa cell tumor, NOS | Granulosa cell tumor, adult type | Granulosa cell tumor, adult type (morphologic abnormality) | Granulosa cell tumour | Granulosa cell tumour NOS | Granulosa cell tumour, NOS | Granulosa cell tumour, adult type | Tumor, Granulosa Cell | Tumors, Granulosa Cell | [M]Granulosa cell tumor NOS | [M]Granulosa cell tumor NOS (morphologic abnormality) | [M]Granulosa cell tumour NOS | cell granulosa tumor | cells granulosa tumor | granulosa cell tumor | granulosa cell tumors | granulosa cell tumour | granulosa cell; tumor | tumor cell granulosa | tumor; granulosa cell MSH2017_2016_08_12:A neoplasm composed entirely of GRANULOSA CELLS, occurring mostly in the OVARY. In the adult form, it may contain some THECA CELLS. This tumor often produces ESTRADIOL and INHIBIN. The excess estrogen exposure can lead to other malignancies in women and PRECOCIOUS PUBERTY in girls. In rare cases, granulosa cell tumors have been identified in the TESTES. | NCI2016_02D:A slow-growing, malignant tumor, characterized by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumors that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms. | NCI2016_CDISC_1602D:A neoplasm of the ovary (or testis), originating from granulosa cells for which the malignancy status has not been established. | NCI2016_NCI-GLOSS_1602D:A type of slow-growing, malignant tumor that usually affects the ovary. MSH2017_2016_08_12:D006106|SNOMEDCT_US_2016_09_01:189734000|SNOMEDCT_US_2016_09_01:46585005 C0751603 Autosomal recessive hereditary spastic paraplegia Autosomal Recessive Hereditary Spastic Paraplegia | Autosomal Recessive Spastic Paraplegia, Hereditary | Hereditary Autosomal Recessive Spastic Paraplegia | Hereditary Spastic Paraplegia, Autosomal Recessive | Spastic Paraplegia, Autosomal Recessive, Hereditary | Spastic Paraplegia, Hereditary, Autosomal Recessive MSH2017_2016_08_12:D015419 C0085183 Neoplasms, second primary Malignancies, Second | Malignancy, Second | Metachronous Neoplasm | Metachronous Neoplasms | Metachronous Second Primary Neoplasms | Neoplasm, Metachronous | Neoplasm, Second | Neoplasm, Second Primary | Neoplasms, Metachronous | Neoplasms, Metachronous Second Primary | Neoplasms, Second | Neoplasms, Second Primary | Neoplasms, Second Primary [Disease/Finding] | Second Malignancies | Second Malignancy | Second Neoplasm | Second Neoplasms | Second Primary Neoplasm | Second Primary Neoplasms | Second Primary Neoplasms, Metachronous | malignancy second | second malignancies | second malignancy MSH2017_2016_08_12:Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. The second neoplasm may have the same or different histological type and can occur in the same or different organs as the previous neoplasm but in all cases arises from an independent oncogenic event. The development of the second neoplasm may or may not be related to the treatment for the previous neoplasm since genetic risk or predisposing factors may actually be the cause. MSH2017_2016_08_12:D016609 C0021833 Intestinal fistula Fistula of Intestine | Fistula of intestine | Fistula of intestine (disorder) | Fistula of intestine NOS | Fistula of intestine NOS (disorder) | Fistula of intestine, NOS | Fistula, Intestinal | INTESTINAL FISTULA | Intestinal Fistula | Intestinal Fistula [Disease/Finding] | Intestinal fistula | bowel; fistula | fistula intestinal | fistula; bowel | fistulas intestinal | intestinal fistula | intestinal fistula (diagnosis) | intestine fistula HPO2016_07_04:An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract. [HPO:probinson] | MSH2017_2016_08_12:An abnormal anatomical passage between the INTESTINE, and another segment of the intestine or other organs. External intestinal fistula is connected to the SKIN (enterocutaneous fistula). Internal intestinal fistula can be connected to a number of organs, such as STOMACH (gastrocolic fistula), the BILIARY TRACT (cholecystoduodenal fistula), or the URINARY BLADDER of the URINARY TRACT (colovesical fistula). Risk factors include inflammatory processes, cancer, radiation treatment, and surgical misadventures (MEDICAL ERRORS). | NCI2016_02D:An abnormal communication between the small or large intestine and another organ or cavity. HPO2016_07_04:HP:0100819|ICD10CM_2017:K63.2|MSH2017_2016_08_12:D007412|SNOMEDCT_US_2016_09_01:197245009|SNOMEDCT_US_2016_09_01:235704003|SNOMEDCT_US_2016_09_01:38851006 C0085548 Autosomal recessive polycystic kidney disease ARPKD | ARPKD - Autosomal recessive polycystic kidney disease | Autosomal Recessive Polycystic Kidney | Autosomal Recessive Polycystic Kidney Disease | Autosomal recessive infantile polycystic kidney disease | Autosomal recessive polycystic kidney disease | IPKD - Infantile polycystic kidney disease | Infantile polycystic kidney disease | Kidney, Polycystic, Autosomal Recessive | PKD3, FORMERLY | PKHD1 | POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 | POLYCYSTIC KIDNEY DISEASE INFANT | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE | POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I | Polycystic Kidney Disease, Autosomal Recessive | Polycystic Kidney Disease, Infantile Type | Polycystic Kidney Disease, Infantile, Type 1 | Polycystic Kidney Disease, Infantile, Type I | Polycystic Kidney and Hepatic Disease 1 | Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive) | Polycystic Kidney, Autosomal Recessive | Polycystic Kidney, Autosomal Recessive [Disease/Finding] | Polycystic kidney disease, infantile type | Polycystic kidney disease, infantile type (disorder) | Polycystic kidney, autosomal recessive | Polycystic kidney, infantile type | arpkd | arpkds | autosomal recessive polycystic kidney disease | autosomal recessive polycystic kidney disease (diagnosis) | cyst; kidney, multiple infantile type | disease infants kidney polycystic | polycystic; degeneration, kidney, infantile type | polycystic; kidney, infantile type MSH2017_2016_08_12:A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY. | NCI2016_02D:Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6. | NCI2016_NICHD_1602D:Autosomal recessive polycystic kidney disease caused by a mutation(s) in PKHD1 that is always associated with liver disease. ICD10CM_2017:Q61.1|ICD9CM_2014:753.14|MSH2017_2016_08_12:D017044|OMIM2016_04_17:263200|OMIM2016_04_17:606702|SNOMEDCT_US_2016_09_01:28770003 C1332987 Childhood choriocarcinoma of ovary Childhood Choriocarcinoma of Ovary | Childhood Choriocarcinoma of the Ovary | Childhood Ovarian Choriocarcinoma | Pediatric Choriocarcinoma of Ovary | Pediatric Choriocarcinoma of the Ovary | Pediatric Ovarian Choriocarcinoma NCI2016_02D:A non-gestational choriocarcinoma that arises from the ovary and occurs in children. C2751831 Myopathy, myofibrillar, bag3-related MFM6 | MYOPATHY, MYOFIBRILLAR, 6 | MYOPATHY, MYOFIBRILLAR, BAG3-RELATED | Myopathy, Myofibrillar, Bag3-Related MSH2017_2016_08_12:C567843|OMIM2016_04_17:603883|OMIM2016_04_17:612954 C0748314 Renal insufficiency chronic etiology unknown RENAL INSUFFICIENCY CHRONIC ETIOLOGY UNKNOWN C0038994 Gustatory sweating Gustatory Hyperhidroses | Gustatory Hyperhidrosis | Gustatory Sweating | Gustatory hyperhidrosis | Gustatory hyperhidrosis (disorder) | Gustatory sweating | Gustatory sweating (finding) | HYPERHIDROSIS, GUSTATORY | HYPRG | Hyperhidroses, Gustatory | Hyperhidrosis, Gustatory | Sweating, Gustatory | Sweating, Gustatory [Disease/Finding] | gustatory sweating MSH2017_2016_08_12:An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5) MSH2017_2016_08_12:D013547|OMIM2016_04_17:144100|SNOMEDCT_US_2016_09_01:238758008|SNOMEDCT_US_2016_09_01:56046002 C4280304 Curvature of digit Curvature of digit HPO2016_07_04:HP:0030084 C2675866 Diabetes mellitus, insulin-dependent, 20 (disorder) DIABETES MELLITUS, INSULIN-DEPENDENT, 20 | DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) | Diabetes Mellitus, Insulin-Dependent, 20 | IDDM20 MSH2017_2016_08_12:C567286|OMIM2016_04_17:142410|OMIM2016_04_17:612520 C0810058 Other connective tissue disease Other connective tissue disease C1960539 Aromatase deficiency AROMATASE DEFICIENCY | Aromatase deficiency | Maternal virilisation due to placental aromatase deficiency | Maternal virilization due to placental aromatase deficiency | Maternal virilization due to placental aromatase deficiency (disorder) | PSEUDOHERMAPHRODITISM, FEMALE, DUE TO PLACENTAL AROMATASE DEFICIENCY | Pseudohermaphroditism, female, due to placental aromatase deficiency MSH2017_2016_08_12:C537436|OMIM2016_04_17:107910|OMIM2016_04_17:613546|SNOMEDCT_US_2016_09_01:427627006 C1853723 Myopathy, distal 2 Distal Myopathy with Vocal Cord Weakness | Distal Myopathy with Vocal Cord and Pharyngeal Signs | Distal myopathy 2 | Distal myopathy 2 (disorder) | Distal myopathy with vocal cord weakness | MYOPATHY, DISTAL 2 | Matrin 3 Distal Myopathy | Matrin 3 distal myopathy | Mpd2 | Myopathia Distalis Type 2 | Myopathia distalis type 2 | Myopathy, Distal 2 | VCPDM | Vocal Cord and Pharyngeal Dysfunction with Distal Myopathy | Vocal Cord and Pharyngeal Weakness with Distal Myopathy | Vocal cord and pharyngeal dysfunction with distal myopathy MSH2017_2016_08_12:C565262|SNOMEDCT_US_2016_09_01:702383005 C0282160 Aplasia cutis congenita ACC | ACC - Aplasia cutis congenita | APLASIA CUTIS CONGENITA, NONSYNDROMIC | Aplasia Cutis Congenita | Aplasia Cutis Congenita, Nonsyndromic | Aplasia cutis | Aplasia cutis congenita | Aplasia cutis congenita (disorder) | Aplasia cutis of scalp | Aplasia of skin | Aplasia of skin (disorder) | Congenital absence of skin | Cutis aplasia | Cutis aplasia of scalp | Epitheliogenesis imperfecta | aplasia congenita cutis | aplasia cutis | aplasia cutis congenita | aplasia; cutis congenita | aplasia; skin | congenita aplasia cuti | cuti aplasia | cutis aplasia | cutis congenita; aplasia | skin; aplasia HPO2016_07_04:A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. [HPO:probinson] | NCI2016_02D:Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation. HPO2016_07_04:HP:0001057|ICD10CM_2017:Q84.8|MSH2017_2016_08_12:D004476|OMIM2016_04_17:107600|OMIM2016_04_17:MTHU019222|OMIM2016_04_17:MTHU020179|OMIM2016_04_17:MTHU040347|OMIM2016_04_17:MTHU043907|SNOMEDCT_US_2016_09_01:254237003|SNOMEDCT_US_2016_09_01:35484002 C0007282 Carotid stenosis Artery Narrowing, Carotid | Artery Narrowings, Carotid | Artery Stenoses, Carotid | Artery Stenosis, Carotid | CAROTID STENOSIS | Carotid Artery Narrowing | Carotid Artery Narrowings | Carotid Artery Stenoses | Carotid Artery Stenosis | Carotid Stenoses | Carotid Stenosis | Carotid Stenosis [Disease/Finding] | Carotid artery narrowing | Carotid artery stenosis | Carotid artery stenosis (disorder) | Carotid artery--Stenosis | Carotid stenosis | Narrowing of carotid artery | Narrowing, Carotid Artery | Narrowings, Carotid Artery | Stenoses, Carotid | Stenoses, Carotid Artery | Stenosis, Carotid | Stenosis, Carotid Artery | Stenosis, carotid artery | Stenosis;artery;carotid | arteries carotid narrowing | arteries carotid stenosis | artery carotid stenosi | artery carotid stenosis | carotid artery narrowing | carotid artery stenosis | carotid artery stenosis (diagnosis) | carotid stenoses | carotid stenosis | stenosis carotid | stenosis carotid artery HPO2016_07_04:Narrowing of the carotid arteries. [HPO:probinson] | MSH2017_2016_08_12:Narrowing or stricture of any part of the CAROTID ARTERIES, most often due to atherosclerotic plaque formation. Ulcerations may form in atherosclerotic plaques and induce THROMBUS formation. Platelet or cholesterol emboli may arise from stenotic carotid lesions and induce a TRANSIENT ISCHEMIC ATTACK; CEREBROVASCULAR ACCIDENT; or temporary blindness (AMAUROSIS FUGAX). (From Adams et al., Principles of Neurology, 6th ed, pp 822-3) | NCI2016_02D:A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents. HPO2016_07_04:HP:0100546|MSH2017_2016_08_12:D016893|SNOMEDCT_US_2016_09_01:195181000|SNOMEDCT_US_2016_09_01:64586002 C4025038 Abnormality of the tibial metaphysis Abnormality of the tibial metaphysis | Abnormality of the wide portion of shankbone | Abnormality of the wide portion of shinbone HPO2016_07_04:HP:0006491 C0085280 Alagille syndrome AHD | ALAGILLE SYNDROME | ALAGILLE-WATSON SYNDROME | ALGS | ARTERIOHEPATIC DYSPLASIA | AWS | Alagille | Alagille Syndrome | Alagille Syndrome [Disease/Finding] | Alagille Watson Syndrome | Alagille syndrome | Alagille syndrome (AGS) | Alagille syndrome (diagnosis) | Alagille's Syndrome | Alagille's syndrome | Alagille-Watson Syndrome | Alagille-Watson syndrome | Alagille-Watson syndrome (AWS) | Alagilles Syndrome | Arteriohepatic Dysplasia | Arteriohepatic Dysplasia (AHD) | Arteriohepatic dysplasia | Arteriohepatic dysplasia (disorder) | CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS | Cardiovertebral Syndrome | Cholestasis with Peripheral Pulmonary Stenosis | Dysplasia, Arteriohepatic | Dysplasia, Arteriohepatic (AHD) | Hepatic Ductular Hypoplasia, Syndromatic | Hepatofacioneurocardiovertebral Syndrome | Syndrome, Alagille | Syndrome, Alagille Watson | Syndrome, Alagille's | Syndrome, Alagille-Watson | Syndrome, Cardiovertebral | Syndrome, Hepatofacioneurocardiovertebral | Syndrome, Watson Alagille | Syndrome, Watson Miller | Watson Alagille Syndrome | Watson Miller Syndrome | Watson-Alagille syndrome | Watson-Miller syndrome | alagille syndrome | alagille-watson syndrome | alagilles syndrome | arteriohepatic dysplasia | arteriohepatic dysplasia (AHD) | cardiovertebral syndrome | cholestasis-peripheral pulmonary stenosis | hepatic ductular hypoplasia | hepatic ductular hypoplasia-multiple malformations syndrome | hepatofacioneurocardiovertebral syndrome | paucity of interlobular bile ducts | paucity of interlobular bile ducts (PILBD) | syndrome alagille | syndrome, Watson-Miller CSP2006:autosomal dominant mutation involving chromosome 20; characterized by the almost normal liver that has few or no intrahepatic bile ducts; other extrahepatic malformations include those in the heart, the eyes, the vertebral column, and the facies; major clinical features include jaundice, and congenital heart disease with peripheral pulmonary stenosis. | JABL99:Intrahepatic cholestasis caused by paucity of interlobular bile ducts associated with cardiovascular and other anomalies. Major abnormalities include characteristic facies (prominent forehead, deeply set eyes, hypertelorism, straight nose, and pointed chin) sometimes referred to as cholestasis facies, hoarse voice, and a wide variety of other disorders. Moderate mental retardation occurs in about 15 %. Cerebrovascular complications may include the moyamoya syndrome (progressive obliteration of the intracranial carotid arteries and formation of an extensive vascular network of dilated small branches. The disorder was first reported in Japanese children, and the angiographic appearance of thus formed fine network was described by the Japanese expression "moyamoya," meaning "something hazy, like a puff of smoke drifting in the air," as seen on the radiograph). | MSH2017_2016_08_12:A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2). | NCI2016_02D:An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation. ICD10CM_2017:Q44.7|MSH2017_2016_08_12:D016738|OMIM2016_04_17:118450|SNOMEDCT_US_2016_09_01:31742004 C0017605 Angle closure glaucoma ACG - Angle closure glaucoma | ACG - Angle-closure glaucoma | Angle Closure Glaucoma | Angle Closure Glaucomas | Angle closure glaucoma | Angle glaucoma closed | Angle-Closure Glaucoma | Angle-Closure Glaucomas | Angle-closure glaucoma | Angle-closure glaucoma (disorder) | Angle-closure glaucoma, primary | Closed Angle Glaucoma | Closed angle glaucoma | Closed-Angle Glaucoma | Closed-Angle Glaucomas | Closed-angle glaucoma | Closure-angle glaucoma | GLAUCOMA NARROW ANGLE | GLAUCOMA, CLOSED ANGLE | GLAUCOMA, NARROW ANGLE | GLAUCOMA, OBSTRUCTIVE | Glaucoma closed angle | Glaucoma, Angle Closure | Glaucoma, Angle-Closure | Glaucoma, Angle-Closure [Disease/Finding] | Glaucoma, Closed Angle | Glaucoma, Closed-Angle | Glaucoma, Narrow Angle | Glaucoma, Narrow-Angle | Glaucoma, Uncompensated | Glaucoma, Uncompensative | Glaucoma, angle-closure | Glaucomas, Angle Closure | Glaucomas, Angle-Closure | Glaucomas, Closed-Angle | Glaucomas, Narrow-Angle | Glaucomas, Uncompensated | Glaucomas, Uncompensative | NARROW ANGLE GLAUCOMA | Narrow angle glaucoma | Narrow cleft glaucoma | Narrow-Angle Glaucoma | Narrow-Angle Glaucomas | Narrow-angle glaucoma | Uncompensated Glaucoma | Uncompensated Glaucomas | Uncompensative Glaucoma | Uncompensative Glaucomas | angle closure glaucoma | angle-closure glaucoma | angle-closure glaucoma (diagnosis) | angle-closure; glaucoma | angles glaucoma narrow | close angle glaucoma | closed angle glaucoma | closed-angle glaucoma | glaucoma angle-closure | glaucoma closed angle | glaucoma narrow angle | glaucoma; angle-closure | glaucoma; narrow angle | glaucoma; obstructive | narrow angle glaucoma | narrow angle; glaucoma | narrow glaucoma angle | narrow-angle glaucoma | obstructive; glaucoma MSH2017_2016_08_12:A form of glaucoma in which the intraocular pressure increases because the angle of the anterior chamber is blocked and the aqueous humor cannot drain from the anterior chamber. | NCI2016_02D:The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity. | NCI2016_NICHD_1602D:Optic nerve damage secondary to appositional closure of the angle of the eye. MSH2017_2016_08_12:D015812|SNOMEDCT_US_2016_09_01:193544008|SNOMEDCT_US_2016_09_01:270882001|SNOMEDCT_US_2016_09_01:33647009|SNOMEDCT_US_2016_09_01:392291006 C0267937 Acute recurrent pancreatitis Acute recurrent pancreatitis | Acute recurrent pancreatitis (disorder) | PANCREATITIS ACUTE RECURRENT | Recurrent acute pancreatitis | Recurrent acute pancreatitis (disorder) | acute pancreatitis recurrent | acute recurrent pancreatitis | acute recurrent pancreatitis (diagnosis) SNOMEDCT_US_2016_09_01:197458008|SNOMEDCT_US_2016_09_01:8551005 C0740302 5q-syndrome 5q deletion syndrome | 5q- SYNDROME | 5q- syndrome | 5q-syndrome | CHROMOSOME 5q DELETION SYNDROME | Chromosome 5q Deletion Syndrome | MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5q DELETION | MAR | Macrocytic Anemia, Refractory, Due To 5q Deletion | Refractory macrocytic anemia due to 5q deletion | chromosome 5q deletion syndrome | chromosome 5q monosomy | del(5q) syndrome | monosomy 5q | partial monosomy 5q JABL99:Deletion of the long arm of chromosome 5 with mental retardation and multiple abnormalities, usually frontal bossing, anteverted nostrils, brachycephaly, epicanthal folds, long deep philtrum, microretrognathia, and short neck. Additional defects are variable and may include hypertelorism, blepharophimosis, ear deformities, cleft palate, and other anomalies. MSH2017_2016_08_12:C535323|OMIM2016_04_17:153550 C4020847 Abnormality of pelvic girdle bone morphology Abnormal shape of pelvic girdle bone | Abnormality of pelvic girdle bone morphology | Abnormality of the pelvic girdle HPO2016_07_04:An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. [HPO:probinson] HPO2016_07_04:HP:0002644 C1844677 Deafness, x-linked 1 (disorder) DEAFNESS, X-LINKED 1 | DEAFNESS, X-LINKED 1 (disorder) | DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | DFN2 | DFNX1 | Deafness, X-Linked 1 | Deafness, X-Linked 2, Sensorineural Congenital MSH2017_2016_08_12:C564433|OMIM2016_04_17:304500|OMIM2016_04_17:311850 C3536797 Ichthyosis congenita ii Congenita II, Ichthyosis | Congenita IIs, Ichthyosis | ICHTHYOSIS CONGENITA II | ICR2 | Ichthyosis Congenita II | Ichthyosis Congenita IIs MSH2017_2016_08_12:D017490|OMIM2016_04_17:242300 C1290398 Cerebral arterial aneurysm Aneurysm of Cerebral Artery | Aneurysm;artery;cerebral | Cerebral Arterial Aneurysm | Cerebral Artery Aneurysm | Cerebral aneurysm | Cerebral arterial aneurysm | Cerebral arterial aneurysm (disorder) | Cerebral artery aneurysm | Intracranial aneurysm | Intracranial arterial aneurysm | aneurysm of cerebral artery | aneurysm of cerebral artery (diagnosis) | cerebral artery aneurysm HPO2016_07_04:The presence of a localized dilatation or ballooning of a cerebral artery. [HPO:probinson] | NCI2016_02D:A balloon type pouch or bulge in the wall of a cerebral artery. HPO2016_07_04:HP:0004944|OMIM2016_04_17:MTHU012686|SNOMEDCT_US_2016_09_01:128608001|SNOMEDCT_US_2016_09_01:42994005 C1332254 Ampulla of vater undifferentiated carcinoma Ampulla of Vater Undifferentiated Carcinoma NCI2016_02D:An aggressive carcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of malignant epithelial cells without evidence of glandular or squamous differentiation. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. C0027877 Neuronal ceroid-lipofuscinoses CEROID STORAGE DISEASE | Cerebral lipofuscinosis | Cerebromacular degeneration | Cerebromacular dystrophy | Cerebroretinal degeneration disease | Ceroid Lipofuscinosis, Neuronal | Ceroid Storage Disease | Ceroid Storage Diseases | Ceroid-Lipofuscinosis, Neuronal | Disease, Ceroid Storage | Disease, Lipofuscin Storage | Diseases, Ceroid Storage | Diseases, Lipofuscin Storage | LIPOFUSCIN STORAGE DISEASE | Lipofuscin Storage Disease | Lipofuscin Storage Diseases | Lipofuscinosis, Neuronal Ceroid | Neuronal Ceroid Lipofuscinoses | Neuronal Ceroid Lipofuscinosis | Neuronal Ceroid-Lipofuscinoses | Neuronal Ceroid-Lipofuscinoses [Disease/Finding] | Neuronal Ceroid-Lipofuscinosis | Neuronal ceroid lipofuscinosis | Neuronal ceroid lipofuscinosis (disorder) | Neuronal ceroid lipofuscinosis NOS | Neuronal ceroid-lipofuscinosis | Pigmentary retinal lipoid neuronal heredodegeneration | Storage Disease, Ceroid | Storage Disease, Lipofuscin | Storage Diseases, Ceroid | Storage Diseases, Lipofuscin | ceroid lipofuscinoses neuronal | ceroid lipofuscinosis | ceroid-lipofuscinosis | hereditary ceroid lipofuscinosis | neuronal ceroid lipofuscinoses | neuronal ceroid lipofuscinosis | neuronal ceroid lipofuscinosis (CLN) | neuronal ceroid lipofuscinosis (diagnosis) | neuronal ceroid-lipofuscinosis CSP2006:inherited degenerative disease characterized by neuronal cytoplasmic inclusions which stain positively for ceroid and lipofuscin. | MSH2017_2016_08_12:A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure. | NCI2016_02D:A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys, and myocardium. Signs and symptoms include motor disturbances and cognitive decline. ICD10CM_2017:E75.4|MSH2017_2016_08_12:D009472|OMIM2016_04_17:214200|SNOMEDCT_US_2016_09_01:42012007 C0206672 Hidrocystoma Hidrocystoma | Hidrocystoma (morphologic abnormality) | Hidrocystoma [Disease/Finding] | Hidrocystomas | Hydrocystoma | eccrine hidrocystoma | hidrocystoma MSH2017_2016_08_12:A cystic form of sweat gland adenoma (ADENOMA, SWEAT GLAND). It is produced by the cystic proliferation of apocrine secretory glands. It is not uncommon, occurring in adult life in no particular age group, with males and females equally affected. The commonest site is around the eye, particularly lateral to the outer canthus. It is cured by surgical removal. (Stedman, 25th ed; Rook et al., Textbook of Dermatology, 4th ed, p2410) | NCI2016_02D:A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative. MSH2017_2016_08_12:D018251|OMIM2016_04_17:MTHU007679|SNOMEDCT_US_2016_09_01:80549000 C0162666 Mitochondrial encephalomyopathies ENCEPHALOMYOPATHY, MITOCHONDRIAL | Encephalomyopathies, Mitochondrial | Encephalomyopathy, Mitochondrial | Mitochondrial Encephalomyopathies | Mitochondrial Encephalomyopathies [Disease/Finding] | Mitochondrial Encephalomyopathy | Mitochondrial encephalomyopathy | Mitochondrial encephalomyopathy (disorder) | Mitochondrial myoencephalopathy | encephalomyopathies mitochondrial | mitochondrial encephalomyopathy MSH2017_2016_08_12:A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5) MSH2017_2016_08_12:D017237|OMIM2016_04_17:516020|OMIM2016_04_17:590005|OMIM2016_04_17:590050|OMIM2016_04_17:590055|OMIM2016_04_17:590095|SNOMEDCT_US_2016_09_01:447292006 C4225183 Brachydactyly, type a1, d BDA1D | BRACHYDACTYLY, TYPE A1, D OMIM2016_04_17:603248|OMIM2016_04_17:616849 C0027665 Neoplasms, nerve tissue Neoplasm, Nerve Tissue | Neoplasm, Nervous Tissue | Neoplasms, Nerve Tissue | Neoplasms, Nerve Tissue [Disease/Finding] | Neoplasms, Nervous Tissue | Nerve Tissue Neoplasm | Nerve Tissue Neoplasms | Nervous Tissue Neoplasm | Nervous Tissue Neoplasms | Nervous tissue neoplasm HPO2016_07_04:A neoplasm derived from nervous tissue (not necessarity a neoplasm located in the nervous system). [] | MSH2017_2016_08_12:Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves. HPO2016_07_04:HP:0030060|MSH2017_2016_08_12:D009380 C0032045 Placenta disorders DISORDER PLACENTAL | Disease, Placenta | Disease, Placental | Diseases, Placenta | Diseases, Placental | Disorder of placenta | Disorder of placenta (disorder) | Disorder of placenta and placental transfusion | Disorder placental | Disorder, Placenta | Disorders, Placenta | PLACENTAL DISORDER | Placenta Disease | Placenta Diseases | Placenta Diseases [Disease/Finding] | Placenta Disorder | Placenta Disorders | Placenta--Diseases | Placental Disease | Placental Diseases | Placental Disorder | Placental disorder | Placental disorder NOS | Placental disorder, unspecified | Placental disorders | Unspecified placental disorder | Unspecified placental disorder, unspecified trimester | disease (or disorder); placenta | placenta disease | placenta diseases | placenta disorder | placenta disorders | placenta; disorder | placental disorders | placental disorders (diagnosis) | pregnancy; disease, placenta | pregnancy; placenta, disease CSP2006:deviation from or interruption of the normal structure or function of the placenta. | MSH2017_2016_08_12:Pathological processes or abnormal functions of the PLACENTA. | NCI2016_02D:A non-neoplastic or neoplastic disorder that affects the placenta. Representative examples include chorioamnionitis, hemangioma, and choriocarcinoma. ICD10CM_2017:O43|ICD10CM_2017:O43.9|ICD10CM_2017:O43.90|MSH2017_2016_08_12:D010922|SNOMEDCT_US_2016_09_01:125586008 C0040948 Trichostrongyliasis Infection by Trichostrongylus | Infection by Trichostrongylus species | TRICHOSTRONGYLIASIS | Trichostrongyliasis | Trichostrongyliasis (disorder) | Trichostrongyloses | Trichostrongylosis | Trichostrongylosis [Disease/Finding] | Trichostrongylus; infection | Trichostrongylus; infestation | infestation; Trichostrongylus | trichostrongyliasis | trichostrongyliasis (diagnosis) MSH2017_2016_08_12:Infestation with nematode worms of the genus TRICHOSTRONGYLUS. Man and animals become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin. ICD10CM_2017:B81.2|ICD9CM_2014:127.6|MSH2017_2016_08_12:D014253|SNOMEDCT_US_2016_09_01:33710003 C4021762 Abnormality of the cerebrum Abnormality of the cerebrum | Abnormality of the telencephalon HPO2016_07_04:An abnormality of the telencephalon, which is also known as the cerebrum. [HPO:probinson] HPO2016_07_04:HP:0002060 C1970479 Branchiootorenal syndrome 2 BOR2 | BRANCHIOOTORENAL SYNDROME 2 | Branchiootorenal Syndrome 2 MSH2017_2016_08_12:D019280|OMIM2016_04_17:600963|OMIM2016_04_17:610896 C1859077 Absent/hypoplastic nails Absent/hypoplastic nails | Absent/small nails | Absent/underdeveloped nails | Aplasia/Hypoplasia of the nails | Nail aplasia/hypoplasia HPO2016_07_04:Aplasia or developmental hypoplasia of the nail. [HPO:probinson] HPO2016_07_04:HP:0008386|OMIM2016_04_17:MTHU013818|OMIM2016_04_17:MTHU020139 C0264955 Idiopathic arterial calcification of infancy Idiopathic arterial calcification of infancy | Idiopathic arterial calcification of infancy (disorder) SNOMEDCT_US_2016_09_01:68926002 C4025583 Cellular metachromasia Cellular metachromasia HPO2016_07_04:Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans. [HPO:probinson, pmid:4195824] HPO2016_07_04:HP:0003653 C1690964 Cataract On examination - cataract | On examination - cataract (finding) | cataract | cataract on exam | cataract on exam (physical finding) SNOMEDCT_US_2016_09_01:420123008 C0810299 Other and unspecified lower respiratory disease Other and unspecified lower respiratory disease C1841648 Short mandibular rami Decreased height of mandibular ramus | Short body and ramus of mandible | Short mandibular rami | Short mandibular ramus | Underdeveloped mandibular rami HPO2016_07_04:HP:0003778|OMIM2016_04_17:MTHU005353|OMIM2016_04_17:MTHU005410|OMIM2016_04_17:MTHU017970 C0154758 Inflammatory toxic neuropathy INFLAMMATORY AND TOXIC NEUROPATHIES | Inflammatory &/or toxic neuropathy | Inflammatory &/or toxic neuropathy (disorder) | Inflammatory +toxic neuropathy | Inflammatory and toxic neuropathy | Inflammatory and toxic neuropathy (disorder) | Toxic or inflammatory neuropathy NOS | Toxic or inflammatory neuropathy NOS (disorder) | Toxic/inflamm. neuropathy NOS | Unspecified inflammatory and toxic neuropathies | Unspecified inflammatory and toxic neuropathy | inflammatory toxic neuropathy | toxic or inflammatory neuropathy (non-specific) ICD9CM_2014:357|ICD9CM_2014:357.9|SNOMEDCT_US_2016_09_01:155060008|SNOMEDCT_US_2016_09_01:193172009|SNOMEDCT_US_2016_09_01:193204000|SNOMEDCT_US_2016_09_01:267601009|SNOMEDCT_US_2016_09_01:267603007 C0477372 Other status epilepticus Other status epilepticus | [X]Other status epilepticus | [X]Other status epilepticus (disorder) SNOMEDCT_US_2016_09_01:194492004 C3553816 Spinocerebellar ataxia, autosomal recessive 13 SCAR13 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 OMIM2016_04_17:604473|OMIM2016_04_17:614831 C1844572 Curved linear dimple below the lower lip Curved linear dimple below the lower lip HPO2016_07_04:HP:0002055|OMIM2016_04_17:MTHU007706 C1456240 Narcolepsy without cataplexy Narcolepsy without cataplexy | Narcolepsy without cataplexy (disorder) | Narcolepsy, without cataplexy | narcolepsy without cataplexy (diagnosis) ICD10CM_2017:G47.419|ICD9CM_2014:347.00|SNOMEDCT_US_2016_09_01:91521000119104 C3280202 Biliary cirrhosis, primary, 5 BILIARY CIRRHOSIS, PRIMARY, 5 | PBC5 OMIM2016_04_17:614221 C0267328 Chronic gju + hemorrhage Chronic GJU + haemorrhage | Chronic GJU + hemorrhage | Chronic gastrojejunal ulcer with haemorrhage | Chronic gastrojejunal ulcer with hemorrhage | Chronic gastrojejunal ulcer with hemorrhage (disorder) | Chronic gastrojejunal ulcer with hemorrhage [dup] (disorder) | chronic gastrojejunal ulcer with hemorrhage | chronic gastrojejunal ulcer with hemorrhage (diagnosis) | ulcer; gastrojejunal, chronic, with hemorrhage SNOMEDCT_US_2016_09_01:196716001|SNOMEDCT_US_2016_09_01:62838000 C0005717 Blastomycosis, north american BLASTOMYCOSIS, NORTH AMERICAN | Blastomycosis (& [Chicago disease] or [Gilchrists disease] or [North American]) | Blastomycosis (& [Chicago disease] or [Gilchrists disease] or [North American]) (disorder) | Blastomycosis, North American | Chicago disease | Chicago disease (disorder) | Chicago; disease | Gilchrist | Gilchrist Disease | Gilchrist's Disease | Gilchrist's disease | Gilchrist's disease (disorder) | Gilchrists Disease | Infection by Blastomyces dermatitidis | North American Blastomycosis | North American blastomycosis | North American blastomycosis (diagnosis) | North American blastomycosis (disorder) | North American blastomycosis (disorder) [Ambiguous] | North American blastomycosis [dup] (disorder) | North American; blastomycotic | blastomycosis; North American | chicago disease | disease (or disorder); Chicago | gilchrist's disease | infection; Blastomyces, blastomycotic, North American | north American blastomycosis MSH2017_2016_08_12:D001759|SNOMEDCT_US_2016_09_01:10673008|SNOMEDCT_US_2016_09_01:187064007|SNOMEDCT_US_2016_09_01:189622001|SNOMEDCT_US_2016_09_01:190196003|SNOMEDCT_US_2016_09_01:192860007|SNOMEDCT_US_2016_09_01:367238002|SNOMEDCT_US_2016_09_01:69996000 C0037036 Sialorrhea Excessive production of saliva | Excessive salivation | Excessive salivation (& symptom) | Excessive salivation (& symptom) (finding) | Excessive salivation (disorder) | Excessive salivation (finding) | Excessive salivation - symptom | Excessive salivation - symptom (context-dependent category) | Excessive salivation - symptom (finding) | Excessive secretion of saliva | Excessive;salivation | HYPERSALIVATION | Hyperactive salivary flow | Hypersalivation | Hypersecretion of saliva | Hypersecretion of salivary gland | INCREASED SALIVATION | Increase in salivation | Increased salivation | PTYALISM | Polysialia | Ptyalism | Ptyalorrhea | Ptyalorrhoea | SALIVA INCREASED | SALIVATION | SALIVATION INCREASE | Saliva increased | Saliva secretion excessive | Saliva secretion increased | Salivary hypersecretion | Salivary secretion, increased | Salivation excess symp. | Sialism | Sialismus | Sialorrhea | Sialorrhea [Disease/Finding] | Sialorrhoea | Sialosis | Sialosis (disorder) | excessive saliva | excessive saliva (ptyalism) | excessive saliva (symptom) | excessive salivation | hypersalivation | hypersecretion of saliva | hypersecretion; salivary gland | increased saliva | increased salivation | polysialia | ptyalism | ptyalism (diagnosis) | ptyalism (physical finding) | ptyalism was observed | salivary gland; hypersecretion | salivary secretion disturbance: ptyalism | salivary secretion; excessive | salivation | salivation excessive | sialism | sialorrhea | sialorrhoea | sialosis | sialosis (diagnosis) HPO2016_07_04:Excessive production of saliva. [HPO:probinson] | MSH2017_2016_08_12:Increased salivary flow. | NCI2016_02D:An increase in saliva secretion. | NCI2016_NICHD_1602D:An increase in saliva secretion. HPO2016_07_04:HP:0002307|HPO2016_07_04:HP:0003781|ICD10CM_2017:K11.7|MSH2017_2016_08_12:D012798|OMIM2016_04_17:MTHU014490|OMIM2016_04_17:MTHU022831|OMIM2016_04_17:MTHU025907|SNOMEDCT_US_2016_09_01:139278009|SNOMEDCT_US_2016_09_01:162013008|SNOMEDCT_US_2016_09_01:266424000|SNOMEDCT_US_2016_09_01:267047000|SNOMEDCT_US_2016_09_01:275295002|SNOMEDCT_US_2016_09_01:53827007 C1846632 Thyroid dyshormonogenesis 6 HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 6 | Hypothyroidism, Congenital, due to Dyshormonogenesis, 6 | TDH6 | THYROID DYSHORMONOGENESIS 6 | THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6 | Thyroid Dyshormonogenesis 6 | Thyroid Hormonogenesis, Genetic Defect in, 6 MSH2017_2016_08_12:C564608|OMIM2016_04_17:606759|OMIM2016_04_17:607200 C1846896 Deafness, autosomal recessive 22 DEAFNESS, AUTOSOMAL RECESSIVE 22 | DFNB22 | Deafness, Autosomal Recessive 22 MSH2017_2016_08_12:C564633|OMIM2016_04_17:607038|OMIM2016_04_17:607039 C1299435 Progressive angina Progressive Angina | Progressive Angina (disorder) SNOMEDCT_US_2016_09_01:371806006 C3484357 Hermansky-pudlak syndrome 4 HERMANSKY-PUDLAK SYNDROME 4 | HPS4 OMIM2016_04_17:606682|OMIM2016_04_17:614073 C0023048 Creeping eruptions Creeping Eruption | Creeping Eruptions | Creeping eruption | Creeping eruption NOS | Dew Itch | Dew Itchs | Eruption, Creeping | Eruptions, Creeping | Ground Itch | Ground Itchs | Itch, Dew | Itch, Ground | Itchs, Dew | Itchs, Ground | Larva Migrans | Larva Migrans [Disease/Finding] | Larva migrans | creeping eruption | creeping eruptions | creeping; eruption | eruption creeping | eruption; creeping | larva migrans MSH2017_2016_08_12:Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in man. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans. MSH2017_2016_08_12:D007815 C0001906 Variola minor Alastrim | Alastrim (disorder) | Amaas | Kaffir pox | Minor, Variola | Minors, Variola | Variola Minor | Variola Minors | Variola minor | alastrim | alastrim (diagnosis) | variola minor ICD9CM_2014:050.1|MSH2017_2016_08_12:D012899|SNOMEDCT_US_2016_09_01:72294005 C0039101 Synovial sarcoma Malignant synovioma | SARCOMA, SYNOVIAL | SARCOMA, SYNOVIAL, MALIGNANT | SS | Sarcoma, Synovial | Sarcoma, Synovial [Disease/Finding] | Sarcomas, Synovial | Synovial Sarcoma | Synovial Sarcoma, NOS | Synovial Sarcoma, Not Otherwise Specified | Synovial Sarcomas | Synovial sarcoma | Synovial sarcoma (disorder) | Synovial sarcoma (morphologic abnormality) | Synovial sarcoma NOS | Synovial sarcoma, NOS | Synovioma | Synovioma NOS | Synovioma, NOS | Synovioma, malignant | Synoviomas | [M]Synovial sarcoma NOS | [M]Synovioma NOS | sarcoma synovial | synovial sarcoma | synovial sarcoma (diagnosis) | synovial sarcoma of soft tissue | synovial sarcoma of soft tissue (diagnosis) | synovioma | synovioma of joint | synovioma of joint (diagnosis) HPO2016_07_04:A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities. [HPO:probinson] | MSH2017_2016_08_12:A malignant neoplasm arising from tenosynovial tissue of the joints and in synovial cells of tendons and bursae. The legs are the most common site, but the tumor can occur in the abdominal wall and other trunk muscles. There are two recognized types: the monophasic (characterized by sheaths of monotonous spindle cells) and the biphasic (characterized by slit-like spaces or clefts within the tumor, lined by cuboidal or tall columnar epithelial cells). These sarcomas occur most commonly in the second and fourth decades of life. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1363) | NCI2016_02D:A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11). It can occur at any age, but mainly affects young adults, more commonly males. Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee. Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components). Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes. | NCI2016_CDISC_1602D:A malignant neoplasm that usually arises in the synovial membranes of the joints and the synovial cells of the tendons and bursae. | NCI2016_NCI-GLOSS_1602D:A malignant tumor that develops in the synovial membrane of the joints. HPO2016_07_04:HP:0012570|MSH2017_2016_08_12:D013584|OMIM2016_04_17:300813|SNOMEDCT_US_2016_09_01:302851001|SNOMEDCT_US_2016_09_01:63211008 C0302834 Self psychology Psychology, Self | Self Psychology | Self psychology | self psychology | self-psychology MSH2017_2016_08_12:Psychoanalytic theory focusing on interpretation of behavior in reference to self. (From APA, Thesaurus of Psychological Terms, 1994) This elaboration of the psychoanalytic concepts of narcissism and the self, was developed by Heinz Kohut, and stresses the importance of the self-awareness of excessive needs for approval and self-gratification. | PSY2004:Psychological theory and approach to psychotherapy focusing on interpretation of behavior in reference to self. Includes the psychoanalytic concept of an individual's need to organize the psyche into a cohesive whole, the self. MSH2017_2016_08_12:D019455 C0029941 Brief psychiatric rating scale Brief Psychiatric Rating Scale | Brief psychiatric rating scale | Overall Gorham Brief Psychiatric Rating Scale | Overall and Gorham Brief Psychiatric Rating Scale | Overall-Gorham Brief Psychiatric Rating Scale | brief psychiatric rating scale MSH2017_2016_08_12:A scale comprising 18 symptom constructs chosen to represent relatively independent dimensions of manifest psychopathology. The initial intended use was to provide more efficient assessment of treatment response in clinical psychopharmacology research; however, the scale was readily adapted to other uses. (From Hersen, M. and Bellack, A.S., Dictionary of Behavioral Assessment Techniques, p. 87) MSH2017_2016_08_12:D010054 C0268680 Biotin deficiency Biotin deficiency | Biotin deficiency (disorder) | Deficiency of biotin | Deficiency of biotin (disorder) | Disorder of biotin | biotin; deficiency | deficiency; biotin | deficiency; vitamin, H (biotin) | vitamin; deficiency, H (biotin) ICD10CM_2017:E53.8|MSH2017_2016_08_12:C531633|SNOMEDCT_US_2016_09_01:124910006|SNOMEDCT_US_2016_09_01:413652008 C0004364 Autoimmune diseases AUTOIMMUNE DISEASE | AUTOIMMUNE DISORDER | AUTOIMMUNE DISORDER NOS | Autoimmune Disease | Autoimmune Diseases | Autoimmune Diseases [Disease/Finding] | Autoimmune Disorder | Autoimmune Disorders | Autoimmune condition | Autoimmune disease | Autoimmune disease (disorder) | Autoimmune disease NOS | Autoimmune disease NOS (disorder) | Autoimmune disease, NOS | Autoimmune diseases | Autoimmune disorder | Autoimmune disorder NOS | Autoimmune disorder, NOS | Autoimmune disorders | Autoimmunity | Disease, Autoimmune | Diseases, Autoimmune | autoimmune disease | autoimmune disease (diagnosis) | autoimmune diseases | autoimmune disorder | autoimmune disorders | autoimmunities | autoimmunity | self recognition (immune) CSP2006:developmentally complex, not necessarily pathological, possibly pervasive, cell or humoral immune system reactivity toward autologous (self) antigens; do not confuse with AUTOIMMUNE DISORDER. | CSP2006:heading term for a diverse group of disorders characterized by pathologenic immune reactions to autologous (self) tissue; for nonnpatholgical, developmental, or phenomenological aspects of autoimmunity, use AUTOIMMUNITY. | HPO2016_07_04:The occurrence of an immune reaction against the organism's own cells or tissues. [HPO:probinson] | MEDLINEPLUS_20151021:Your body's immune system protects you from disease and infection. But if you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. Autoimmune diseases can affect many parts of the body.
No one is sure what causes autoimmune diseases. They do tend to run in families. Women - particularly African-American, Hispanic-American, and Native-American women - have a higher risk for some autoimmune diseases.
There are more than 80 types of autoimmune diseases, and some have similar symptoms. This makes it hard for your health care provider to know if you really have one of these diseases, and if so, which one. Getting a diagnosis can be frustrating and stressful. Often, the first symptoms are fatigue, muscle aches and a low fever. The classic sign of an autoimmune disease is inflammation, which can cause redness, heat, pain and swelling.
The diseases may also have flare-ups, when they get worse, and remissions, when symptoms get better or disappear. Treatment depends on the disease, but in most cases one important goal is to reduce inflammation. Sometimes doctors prescribe corticosteroids or other drugs that reduce your immune response.
| MSH2017_2016_08_12:Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides. | NCI2016_02D:A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). | NCI2016_CTCAE_1602D:A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. | NCI2016_NCI-GLOSS_1602D:A condition in which the body recognizes its own tissues as foreign and directs an immune response against them. | NCI2016_NICHD_1602D:A disorder that may result in abnormality, impaired function or damage of one or more organs or tissues, arising from autoreactive humoral or cellular immune responses. HPO2016_07_04:HP:0002960|MSH2017_2016_08_12:D001327|OMIM2016_04_17:109100|OMIM2016_04_17:MTHU027840|OMIM2016_04_17:MTHU028125|SNOMEDCT_US_2016_09_01:191006002|SNOMEDCT_US_2016_09_01:85828009 C1845334 Asperger syndrome, x-linked, susceptibility to, 2 (finding) ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 | ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 (finding) | ASPGX2 OMIM2016_04_17:300497 C0343312 Tetanus neonatorum nos Neonatal Tetanus | Tetanus Neonatorum | Tetanus neonatorum | Tetanus neonatorum (disorder) | Tetanus neonatorum NOS | Tetanus neonatorum NOS (disorder) | Tetanus neonatorum unspecif. | Tetanus neonatorum, unspecified | Tetanus neonatorum, unspecified (disorder) | neonatorum; tetanus | tetanus neonatorum | tetanus neonatorum (diagnosis) | tetanus; neonatorum NCI2016_02D:A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production. | NCI2016_NICHD_1602D:A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production. ICD10CM_2017:A33|ICD9CM_2014:771.3|SNOMEDCT_US_2016_09_01:206338004|SNOMEDCT_US_2016_09_01:206339007|SNOMEDCT_US_2016_09_01:43424001 C1827284 Intractable occipital lobe epilepsy Intractable occipital lobe epilepsy | Refractory occipital lobe epilepsy | Refractory occipital lobe epilepsy (disorder) SNOMEDCT_US_2016_09_01:425054007 C0854993 Lung squamous cell carcinoma stage iii Lung Squamous Cell Carcinoma Stage III | Lung squamous cell carcinoma stage III | Squamous cell carcinoma of lung stage III | Stage III Epidermoid Cell Carcinoma of Lung | Stage III Epidermoid Cell Carcinoma of the Lung | Stage III Epidermoid Cell Lung Carcinoma | Stage III Squamous Cell Carcinoma of Lung | Stage III Squamous Cell Carcinoma of the Lung | Stage III Squamous Cell Lung Carcinoma | Stage III Squamous Cell Lung Carcinoma AJCC v7 NCI2016_02D:Stage III includes: IIIA (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0) and IIIB (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 7th ed.) C1861627 Butterfly vertebral arch Butterfly vertebral arch HPO2016_07_04:Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends. [HPO:probinson] HPO2016_07_04:HP:0004617|OMIM2016_04_17:MTHU018968 C1849236 Severe combined immunodeficiency, atypical SCID, atypical | Severe combined immunodeficiency, atypical MSH2017_2016_08_12:C537590 C2609059 Antisynthetase syndrome Antisynthetase syndrome | Antisynthetase syndrome (disorder) MSH2017_2016_08_12:C537778|SNOMEDCT_US_2016_09_01:445187004 C0037930 Spinal cord neoplasms Neoplasm of Spinal Cord | Neoplasm of spinal cord | Neoplasm of spinal cord (disorder) | Neoplasm of the Spinal Cord | Neoplasm, Spinal Cord | Neoplasms, Spinal Cord | SPINE TUMOR | Spinal Cord Neoplasm | Spinal Cord Neoplasms | Spinal Cord Neoplasms [Disease/Finding] | Spinal Cord Tumor | Spinal Cord Tumors | Spinal cord neoplasm | Spinal cord neoplasm NOS | Spinal cord tumor | Spinal cord--Tumors | Spinal tumor | Spinal tumors | Spinal tumour | Tumor of Spinal Cord | Tumor of spinal cord | Tumor of the Spinal Cord | Tumor of the spinal cord | Tumor, Spinal Cord | Tumors, Spinal Cord | Tumour of spinal cord | spinal cord neoplasm | spinal cord tumor | spinal cord tumor (diagnosis) | spinal cord tumors | spinal tumor | spinal tumors | spinal tumour | spinal tumours HPO2016_07_04:A neoplasm affecting the spinal cord. [HPO:probinson] | MSH2017_2016_08_12:Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA. | NCI2016_02D:A primary or metastatic neoplasm affecting the spinal cord. | NCI2016_NICHD_1602D:A neoplasm arising within the spinal cord. HPO2016_07_04:HP:0010302|MSH2017_2016_08_12:D013120|SNOMEDCT_US_2016_09_01:126962006 C1839928 Iris hypoplasia with glaucoma IHG | IRIS HYPOPLASIA WITH GLAUCOMA | Iris Hypoplasia with Glaucoma | Iris hypoplasia and glaucoma MSH2017_2016_08_12:C535538|OMIM2016_04_17:308500|OMIM2016_04_17:601090|OMIM2016_04_17:601631 C0264353 Bronchomalacia BRONCHOMALACIA | Bronchi Chondromalacia | Bronchi Chondromalacias | Bronchomalacia | Bronchomalacia (disorder) | Bronchomalacia NOS | Bronchomalacia [Disease/Finding] | Bronchomalacias | Chondromalacia of Bronchi | bronchomalacia MSH2017_2016_08_12:A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the BRONCHI. This results in a floppy bronchial wall making patency difficult to maintain. It is characterized by wheezing and difficult breathing. | NCI2016_02D:A congenital or acquired abnormality of the wall of the bronchi. In congenital cases, there is lack of rigidity in the cartilage of the bronchial wall. In acquired cases, the cartilage of the bronchial wall is degenerated, secondary to tracheostomy or presence of a breathing tube. Symptoms include noisy breathing and wheezing. | NCI2016_NICHD_1602D:Increased bronchial collapsibility. HPO2016_07_04:HP:0002780|MSH2017_2016_08_12:D055091|OMIM2016_04_17:211450|OMIM2016_04_17:MTHU014703|SNOMEDCT_US_2016_09_01:54203008 C0029839 Other specified urticaria nos Other specified urticaria | Other specified urticaria (disorder) | Other specified urticaria NOS | Other specified urticaria NOS (disorder) ICD9CM_2014:708.8|SNOMEDCT_US_2016_09_01:201267004|SNOMEDCT_US_2016_09_01:201271001|SNOMEDCT_US_2016_09_01:267817001 C1845717 Radial ray deficiency, x-linked RADIAL RAY DEFICIENCY, X-LINKED | RRDX | Radial Ray Deficiency, X-Linked MSH2017_2016_08_12:C564523|OMIM2016_04_17:300378 C0155320 Blindness, cortical BLINDNESS CORTICAL | Blindness cortical | Blindness, Cortical | Blindness, Cortical [Disease/Finding] | CORTICAL BLINDNESS | Cortical Blindness | Cortical blindness | Cortical blindness (disorder) | blindness cortical | cortical blindness | cortical blindness (physical finding) | cortical blindness was observed MSH2017_2016_08_12:Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460) | NCI2016_02D:Visual impairment due to visual cortex dysfunction. | NCI2016_NICHD_1602D:Visual impairment due to visual cortex dysfunction. HPO2016_07_04:HP:0100704|ICD10CM_2017:H47.61|ICD9CM_2014:377.75|MSH2017_2016_08_12:D019575|OMIM2016_04_17:MTHU037241|SNOMEDCT_US_2016_09_01:68574006 C3809443 Mtdps12 MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE) | MTDPS12 OMIM2016_04_17:103220|OMIM2016_04_17:615418 C0155460 Unspecified acute tympanitis Acute myringitis | Acute myringitis (disorder) | Acute myringitis NOS | Acute myringitis NOS (disorder) | Acute myringitis, NOS | Acute myringitis, unspecified | Acute myringitis, unspecified ear | Acute tympanitis | Acute tympanitis NOS | Acute tympanitis, NOS | Unspecified acute myringitis | Unspecified acute tympanitis | Unspecified acute tympanitis (disorder) | acute myringitis | acute myringitis (diagnosis) | acute; myringitis | acute; tympanitis | myringitis; acute | tympanitis; acute ICD10CM_2017:H73.0|ICD10CM_2017:H73.00|ICD10CM_2017:H73.009|ICD9CM_2014:384.00|SNOMEDCT_US_2016_09_01:194312004|SNOMEDCT_US_2016_09_01:194313009|SNOMEDCT_US_2016_09_01:297009 C0153620 Malignant neoplasm of urethra Malignant Neoplasm of Urethra | Malignant Neoplasm of the Urethra | Malignant Tumor of Urethra | Malignant Tumor of the Urethra | Malignant Urethra Neoplasm | Malignant Urethra Tumor | Malignant Urethral Neoplasm | Malignant Urethral Tumor | Malignant neoplasm of urethra | Malignant tumor of urethra | Malignant tumor of urethra (disorder) | Malignant tumour of urethra | Malignant tumour of urethra (disorder) | Malignant urethral tumor | Malignant urethral tumour | Neoplasm malig;urethra | malignant neoplasm of urethra | malignant neoplasm of urethra (diagnosis) | malignant neosplasm of the urethra | malignant tumor of urethra NCI2016_02D:Abnormal malignant growth of cells in the urethra (lower urinary tract). ICD10CM_2017:C68.0|ICD9CM_2014:189.3|SNOMEDCT_US_2016_09_01:154544009|SNOMEDCT_US_2016_09_01:363459007|SNOMEDCT_US_2016_09_01:94123008 C1562908 Leprosy, paucibacillary Borderline Tuberculoid | Borderline Tuberculoids | Indeterminate Tuberculoid | Indeterminate Tuberculoids | Leprosies, Paucibacillary | Leprosy, Paucibacillary | Leprosy, Paucibacillary [Disease/Finding] | PB leprosy | Paucibacillary Leprosies | Paucibacillary Leprosy | Paucibacillary leprosy | Paucibacillary leprosy (disorder) | Tuberculoid, Borderline | Tuberculoid, Indeterminate | Tuberculoids, Borderline | Tuberculoids, Indeterminate MSH2017_2016_08_12:A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy. MSH2017_2016_08_12:D056005|SNOMEDCT_US_2016_09_01:416483009 C1321756 Achalasia ACHALASIA | Achalasia | Achalasia (finding) | Achalasia NOS | Achalasia, NOS | achalasia NCI2016_02D:Failure of the smooth muscle fibers of the gastrointestinal tract to relax at any one point of junction of one part with another. | NCI2016_FDA_1602D:Failure of the smooth muscle fibers of the gastrointestinal tract to relax at any one point of junction of one part with another. ICD10CM_2017:K22.0|OMIM2016_04_17:MTHU001419|SNOMEDCT_US_2016_09_01:48531003 C2033294 Papillary squamous cell carcinoma of larynx Laryngeal Papillary Squamous Cell Carcinoma | papillary squamous cell carcinoma of larynx | papillary squamous cell carcinoma of larynx (diagnosis) NCI2016_02D:A variant of squamous cell carcinoma that arises from the larynx. It is characterized by an exophytic and papillary growth usually in the supraglottic area. The prognosis is favorable. C0017547 Gigantism GIGANTISM | GIGANTISM, PITUITARY | Genetic giant | Giant | Giant (disorder) | Giant -RETIRED- | Giant, NOS | Giant, genetic | Giantism | Giantism, NOS | Gigantism | Gigantism (disorder) | Gigantism [Disease/Finding] | Gigantism, NOS | Gigantism, Pituitary | Gigantosoma | Normal giant | Pituitary Gigantism | Pituitary gigantism | Primordial giant | genetics giant | giant | giantism | giants | gigantism | gigantism (diagnosis) | gigantism (physical finding) | gigantism disorder | gigantism was noted | gigantism; pituitary | pituitary; gigantism CSP2006:condition of abnormal overgrowth or excessive size of the whole body or any of its parts. | MSH2017_2016_08_12:The condition of accelerated and excessive GROWTH in children or adolescents who are exposed to excess HUMAN GROWTH HORMONE before the closure of EPIPHYSES. It is usually caused by somatotroph hyperplasia or a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age. | NCI2016_02D:A clinical finding indicating abnormal and excessive body growth and height resulting from the overproduction of human growth hormone. | NCI2016_NCI-GLOSS_1602D:A condition in which the whole body or any of its parts grow much larger than normal. MSH2017_2016_08_12:D005877|SNOMEDCT_US_2016_09_01:123111004|SNOMEDCT_US_2016_09_01:154698000|SNOMEDCT_US_2016_09_01:267480001|SNOMEDCT_US_2016_09_01:80849007|SNOMEDCT_US_2016_09_01:86073008 C1839252 Hump-shaped mound of bone in central and posterior portions of vertebral endplate Hump-shaped mound of bone in central and posterior portions of vertebral endplate HPO2016_07_04:HP:0004594|OMIM2016_04_17:MTHU006841 C2981399 Stage iib colorectal cancer Stage IIB Colorectal Cancer | Stage IIB Colorectal Cancer AJCC v7 NCI2016_02D:Stage IIB includes: T4a, N0, M0. T4a: Tumor penetrates to the surface of the visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.) C2673635 Combined saposin deficiency COMBINED SAP DEFICIENCY | COMBINED SAPOSIN DEFICIENCY | Combined Saposin Deficiency | PROSAPOSIN DEFICIENCY | PSAPD | Prosaposin Deficiency MSH2017_2016_08_12:C567125|OMIM2016_04_17:176801|OMIM2016_04_17:611721 C0751666 Canavan disease, infantile Canavan Disease, Infantile | Canavan Disease, Type II | Infantile Canavan Disease | Type II Canavan Disease MSH2017_2016_08_12:D017825 C0685838 Gonadal dysgenesis xx type deafness GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS | Gonadal dysgenesis XX type deafness | Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance | Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) | Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance | OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | Ovarian dysgenesis with sensorineural deafness | PERRAULT SYNDROME 1 | PRLTS1 | Perrault syndrome | XX-type gonadal dysgenesis | ovarian dysgenesis-sensorineural deafness syndrome JABL99:Ovarian dysgenesis in female homozygotes and facultative deafness in male and female homozygotes associated with delayed mental and physical development and other defects. MSH2017_2016_08_12:C537286|OMIM2016_04_17:233400|OMIM2016_04_17:601860|SNOMEDCT_US_2016_09_01:93466004 C0752105 Parkinsonism, juvenile Juvenile Parkinson Disease | Juvenile Parkinson disease | Juvenile Parkinson's disease | Juvenile Parkinson's disease (disorder) | Juvenile Parkinsonism | Juvenile Parkinsonisms | Paralysis agitans, juvenile | Parkinson Disease, Juvenile | Parkinsonism, Juvenile | Parkinsonisms, Juvenile | disease juvenile parkinson | disease juvenile parkinsons | juvenile paralysis agitans | juvenile paralysis agitans (diagnosis) | juvenile parkinson's disease | juvenile parkinsonism | parkinson's disease juvenile MSH2017_2016_08_12:D020734|SNOMEDCT_US_2016_09_01:230291001 C0239488 Facial erythema Erythema facial | FACIAL ERYTHEMA | Facial erythema HPO2016_07_04:Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. [HPO:probinson] HPO2016_07_04:HP:0001041|OMIM2016_04_17:MTHU005144 C1334272 Invasive apocrine breast carcinoma Infiltrating Apocrine Breast Carcinoma | Infiltrating Apocrine Carcinoma of Breast | Infiltrating Apocrine Carcinoma of the Breast | Invasive Apocrine Breast Carcinoma | Invasive Apocrine Carcinoma of Breast | Invasive Apocrine Carcinoma of the Breast NCI2016_02D:An invasive breast adenocarcinoma with cytological and immunophenotypic characteristics of apocrine differentiation in more than 90 percent of the malignant cells. C1519912 Vaginal adenoid cystic carcinoma Vaginal Adenoid Cystic Carcinoma NCI2016_02D:An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present. C1396126 Perioral eczema Eczema around the mouth | Perioral eczema | eczema; perioral | perioral; eczema HPO2016_07_04:A type of eczema that occurs in the lips and perioral area. [HPO:probinson] HPO2016_07_04:HP:0011127|OMIM2016_04_17:MTHU034835 C2675485 Aneurysm, intracranial berry, 9 ANEURYSM, INTRACRANIAL BERRY, 9 | ANIB9 | Aneurysm, Intracranial Berry, 9 | Anib9 MSH2017_2016_08_12:C567238|OMIM2016_04_17:612586 C0279980 Extraosseous ewings sarcoma-primitive neuroepithelial tumor EOE | Extra-Osseous Ewing's Sarcoma | Extra-osseous Ewing's sarcoma | Extra-osseous Ewing's sarcoma NOS | Extraosseous Ewing Sarcoma | Extraosseous Ewing's Sarcoma | Extraosseous Ewing's Tumor | Extraosseous Ewings sarcoma-primitive neuroepithelial tumor | Extraskeletal Ewing Sarcoma | Extraskeletal Ewing's Sarcoma | Extraskeletal Ewing's sarcomas | extraosseous Ewing tumor (EOE) | extraosseous Ewing's sarcoma/primitive neuroectodermal tumor | extraosseous ewing's sarcoma | sarcoma, extraosseous Ewing's NCI2016_02D:A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy. C0431698 Dysgenesis; kidney, bilateral Bilateral Renal Dysplasia | Bilateral renal dysgenesis | Bilateral renal dysplasia | Bilateral renal dysplasia (disorder) | dysgenesis; kidney, bilateral | renal dysplasia of both kidneys | renal dysplasia of both kidneys (diagnosis) HPO2016_07_04:A bilateral form of developmental dysplasia of the kidney. [HPO:probinson] | NCI2016_02D:A finding of congenital malformations in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. | NCI2016_NICHD_1602D:Bilateral renal dysplasia is a congenital malformation in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. HPO2016_07_04:HP:0012582|SNOMEDCT_US_2016_09_01:204950001 C0032586 Polyradiculopathy Polyradiculopathies | Polyradiculopathy | Polyradiculopathy (disorder) | Polyradiculopathy [Disease/Finding] | polyradiculopathies | polyradiculopathy MSH2017_2016_08_12:Disease or injury involving multiple SPINAL NERVE ROOTS. Polyradiculitis refers to inflammation of multiple spinal nerve roots. MSH2017_2016_08_12:D011128|SNOMEDCT_US_2016_09_01:75572007 C0522205 Sexual inhibition SEX INHIBITION | Sex inhibition | Sexual inhibition | Sexual inhibition (finding) | sexual inhibition SNOMEDCT_US_2016_09_01:102948009 C0157646 Engorgement of breasts associated with childbirth, antepartum condition or complication Engorgement of breast associated with childbirth, antepartum | Engorgement of breasts associated with childbirth, antepartum condition or complication ICD9CM_2014:676.23 C0153555 Malignant neoplasm of other specified sites of female breast Malignant neoplasm of other specified sites of female breast ICD9CM_2014:174.8 C0024776 Maple syrup urine disease BCKD - Branched chain alpha-ketoacid dehydrogenase deficiency | BCKD DEFICIENCY | BCKD Deficiency | BCKD deficiency | BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY | BRANCHED-CHAIN KETOACIDURIA | BRANCHED-CHAIN KETONURIA | Branched Chain Ketoaciduria | Branched Chain alpha Keto Acid Dehydrogenase Deficiency | Branched chain ketoacid dehydrogenase deficiency | Branched chain ketoaciduria | Branched-Chain Ketoaciduria | Branched-Chain Ketoacidurias | Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency | Branched-chain alpha-keto acid dehydrogenase deficiency | KETO ACID DECARBOXYLASE DEFICIENCY | Keto Acid Decarboxylase Deficiency | Ketoacid decarboxylase deficiency | Ketoacidaemia | Ketoacidemia | Ketoaciduria, Branched-Chain | Ketoacidurias, Branched-Chain | MAPLE SYRUP URINE DISEASE | MSU | MSUD | MSUD (Maple Syrup Urine Disease) | MSUD (maple syrup urine disease) | MSUD - Maple syrup urine disease | Maple Syrup Urine Disease | Maple Syrup Urine Disease [Disease/Finding] | Maple syrup disease | Maple syrup urine disease | Maple syrup urine disease (disorder) | Maple syrup urine disease, NOS | Maple-syrup-urine disease | Oxo-acid decarboxylase deficiency | branched chain ketoaciduria | branched-chain ketoaciduria | disease (or disorder); maple-syrup-urine | disease maple syrup urine | disease; maple-syrup-urine | ketoacidemia | maple syrup disease | maple syrup urine disease | maple syrup urine disease (diagnosis) | maple-syrup-urine disease | maple-syrup-urine; disease | maple-syrup-urine; syndrome | msu | msud | syndrome; maple-syrup-urine CSP2006:autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids; metabolites accumulate in body fluids and render a "maple syrup" odor; divided into classic, intermediate, intermittent, and thiamine responsive subtypes; classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia; the intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. | MSH2017_2016_08_12:An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936) | NCI2016_02D:An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. ICD10CM_2017:E71.0|MSH2017_2016_08_12:D008375|OMIM2016_04_17:248600|SNOMEDCT_US_2016_09_01:27718001 C0013261 Duane retraction syndrome Anomalies, Isolated Duane | Anomaly, Duane | Anomaly, Isolated Duane | Co Contractive Retraction Syndrome | Co-Contractive Retraction Syndrome | Co-Contractive Retraction Syndromes | DRS | DUANE ANOMALY | DUANE SYNDROME | DUANE'S SYNDROME | DUS | Duane | Duane Anomalies, Isolated | Duane Anomaly | Duane Anomaly, Isolated | Duane Retraction Syndrome | Duane Retraction Syndrome [Disease/Finding] | Duane Syndrome | Duane anomaly | Duane retraction syndrome | Duane syndrome | Duane's Syndrome | Duane's retraction syndrome | Duane's syndrome | Duane's syndrome (diagnosis) | Duane's syndrome (disorder) | Duanes Syndrome | Eye retraction syndrome | Isolated Duane Anomalies | Isolated Duane Anomaly | Isolated Duane Retraction Syndrome | Ocular Retraction Syndrome | Ocular Retraction Syndromes | RETRACTION SYNDROME | Retraction Syndrome | Retraction Syndrome, Co-Contractive | Retraction Syndrome, Duane | Retraction Syndrome, Ocular | Retraction Syndromes | Retraction Syndromes, Co-Contractive | Retraction Syndromes, Ocular | Retraction syndrome | Stilling Turk Duane Syndrome | Stilling-Turk-Duane Syndrome | Stilling-Turk-Duane Syndromes | Stilling-Turk-Duane syndrome | Syndrome, Co-Contractive Retraction | Syndrome, Duane | Syndrome, Duane Retraction | Syndrome, Duane's | Syndrome, Ocular Retraction | Syndrome, Retraction | Syndrome, Stilling-Turk-Duane | Syndromes, Co-Contractive Retraction | Syndromes, Ocular Retraction | Syndromes, Retraction | Syndromes, Stilling-Turk-Duane | duane retraction syndrome | duane syndrome | duane's retraction syndrome | duane's syndrome | duanes retraction syndrome | duanes syndrome | duanes's syndrome | eye retraction; syndrome | retraction syndrome | retraction; syndrome | syndrome; eye retraction | syndrome; retraction HPO2016_07_04:Duane anomaly is a congenital eye movement impairment with limitation of the ability to adduct or abduct the eye. When affected eyes are adducted (moved inwards towards the nose), the eyeball retracts and the palpebral fissure narrows. [HPO:probinson] | MSH2017_2016_08_12:A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE. | NCI2016_02D:A rare disorder affecting the muscles of the eye. It is characterized by an abnormal contraction of some eye muscles and failure of contraction of other eye muscles. It leads to limited abduction and adduction of the affected eye. HPO2016_07_04:HP:0009921|ICD10CM_2017:H50.81|ICD9CM_2014:378.71|MSH2017_2016_08_12:D004370|OMIM2016_04_17:126800|OMIM2016_04_17:MTHU019421|OMIM2016_04_17:MTHU048131|SNOMEDCT_US_2016_09_01:60318001 C1969410 Bidirectional ventricular ectopy Bidirectional ventricular ectopy HPO2016_07_04:HP:0005147|OMIM2016_04_17:MTHU021025 C1841835 Grant syndrome GRANT SYNDROME | Grant syndrome MSH2017_2016_08_12:C537293|OMIM2016_04_17:138930 C0011570 Mental depression DEPRESSED STATE | DEPRESSION | DEPRESSION MENTAL | DEPRESSION PSYCHIC | Depressed state | Depression | Depression (Emotion) | Depression (finding) | Depression NOS | Depression NOS (disorder) | Depression mental | Depression psychic | Depression, Mental | Depression, NOS | Depression, mental | Depression, mental function | Depressions | Depressive state | Depressive state NOS | Disorder;depression | Mental Depression | Monopolar depression NOS | [X] Depression NOS | [X]Depression NOS | depression | depression (disease) | depression (emotion) | depression; mental | depression; monopolar | depressive; state | mental depression | mental; depression | monopolar depression | monopolar; depression | state; depressive CSP2006:unpleasant, but not necessarily irrational or pathological, mood state characterized by sadness, despair, or discouragement; "the blues"; may also involve low self-esteem, social withdrawal, and somatic symptoms such as eating and sleep disturbance. | MEDLINEPLUS_20151021:Depression is a serious medical illness that involves the brain. It's more than just a feeling of being "down in the dumps" or "blue" for a few days. If you are one of the more than 20 million people in the United States who have depression, the feelings do not go away. They persist and interfere with your everyday life. Symptoms can include
Depression is a disorder of the brain. There are a variety of causes, including genetic, environmental, psychological, and biochemical factors. Depression usually starts between the ages of 15 and 30, and is much more common in women. Women can also get postpartum depression after the birth of a baby. Some people get seasonal affective disorder in the winter. Depression is one part of bipolar disorder.
There are effective treatments for depression, including antidepressants and talk thera | MSH2017_2016_08_12:Depressive states usually of moderate intensity in contrast with major depression present in neurotic and psychotic disorders. | MSHNOR2016:Depressive tilstander, vanligvis av moderat intensitet, i motsetning til markert depresjon, som finnes ved nevrotiske og psykotiske forstyrrelser. | NCI2016_02D:A melancholy feeling of sadness and despair. | NCI2016_CTCAE_1602D:A disorder characterized by melancholic feelings of grief or unhappiness. | NCI2016_NCI-GLOSS_1602D:A mental condition marked by ongoing feelings of sadness, despair, loss of energy, and difficulty dealing with normal daily life. Other symptoms of depression include feelings of worthlessness and hopelessness, loss of pleasure in activities, changes in eating or sleeping habits, and thoughts of death or suicide. Depression can affect anyone, and can be successfully treated. Depression affects 15-25% of cancer patients. | PSY2004:Mild depression that is not considered clinical depression. For clinical depression, use MAJOR DEPRESSION. ICD10CM_2017:F32.9|ICD10CM_2017:F33.9|MSH2017_2016_08_12:D003863|OMIM2016_04_17:MTHU000940|SNOMEDCT_US_2016_09_01:154963001|SNOMEDCT_US_2016_09_01:192372006|SNOMEDCT_US_2016_09_01:307537002|SNOMEDCT_US_2016_09_01:41006004 C0562691 Herbivores Herbivore | Herbivore (organism) | Herbivores | Herbivories | Herbivory MSH2017_2016_08_12:The act of feeding on plants by animals. MSH2017_2016_08_12:D060434|SNOMEDCT_US_2016_09_01:284730005 C0154777 Degenerated globe condit. nos Degenerated conditions of globe | Degenerated globe condit. NOS | Degenerated globe condition NOS | Degenerated globe condition NOS (disorder) | Degenerated globe or eye, unspecified | Degenerated globe/eye unspecif | Degenerative disorder of eye | Degenerative disorder of eye (disorder) | Degenerative disorder of globe | Degenerative disorder of globe, NOS | Degenerative disorder of globe, unspecified | Degenerative disorders of globe | Degenerative globe disord.NOS | Degenerative globe disord.unsp | Degenerative globe disorder NOS | Degenerative globe disorder NOS (disorder) | Eye degenerative disorder | Eye degenerative disorder NOS | Unspecified degenerated condition of globe of eye | Unspecified degenerated condition of globe of eye (disorder) | Unspecified degenerative disorder of globe | Unspecified degenerative globe disorder | Unspecified degenerative globe disorder (disorder) | degenerative disorders of globe | degenerative disorders of globe (diagnosis) ICD10CM_2017:H44.30|ICD10CM_2017:H44.5|ICD9CM_2014:360.2|ICD9CM_2014:360.20|ICD9CM_2014:360.4|ICD9CM_2014:360.40|SNOMEDCT_US_2016_09_01:193275003|SNOMEDCT_US_2016_09_01:193279009|SNOMEDCT_US_2016_09_01:193285002|SNOMEDCT_US_2016_09_01:193292007|SNOMEDCT_US_2016_09_01:62585004 C3542996 Mindfulness Mindfulness MSH2017_2016_08_12:A psychological state of awareness, the practices that promote this awareness, a mode of processing information and a character trait. As a therapy mindfulness is defined as a moment-to-moment awareness of one's experience without judgment and as a state and not a trait. MSH2017_2016_08_12:D064866 C3494732 Intractable acute confusional migraine Intractable acute confusional migraine | Refractory acute confusional migraine | Refractory acute confusional migraine (disorder) SNOMEDCT_US_2016_09_01:429181000124108 C1969106 Osteopetrosis, autosomal recessive 4 OPTB4 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 | OSTEOPETROSIS, INFANTILE MALIGNANT 2 | Osteopetrosis, Autosomal Recessive 4 | Osteopetrosis, Infantile Malignant 2 MSH2017_2016_08_12:C566933|OMIM2016_04_17:602727|OMIM2016_04_17:611490 C4025269 Generalized arterial calcification Generalized arterial calcification HPO2016_07_04:Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body. [HPO:probinson] HPO2016_07_04:HP:0004940 C0472390 High altitude cerebral edema High altitude cerebral edema | High altitude cerebral edema (disorder) | High altitude cerebral oedema | high altitude cerebral edema | high altitude cerebral oedema SNOMEDCT_US_2016_09_01:230762003 C0740457 Malignant neoplasm of kidney -- Kidney Cancer | CA - Cancer of kidney | CA - Renal cancer | Cancer of Kidney | Cancer of the Kidney | Cancer, Kidney | Cancer, Renal | Cancers, Kidney | Cancers, Renal | KIDNEY CANCER | Kidney Cancer | Kidney Cancers | Kidney cancer | Kidneys--Cancer | Malignant Kidney Neoplasm | Malignant Kidney Tumor | Malignant Neoplasm of Kidney | Malignant Neoplasm of the Kidney | Malignant Renal Neoplasm | Malignant Renal Tumor | Malignant Tumor of Kidney | Malignant Tumor of the Kidney | Malignant neoplasm of kidney | Malignant neoplasm of kidney NOS | Malignant neoplasm of kidney, NOS | Malignant tumor of kidney | Malignant tumor of kidney (disorder) | Malignant tumour of kidney | Malignant tumour of kidney (disorder) | Neoplasm malig;kidney | Renal Cancer | Renal Cancers | Renal cancer | Renal malignant neoplasm | Renal malignant tumor | Renal malignant tumour | Renal neoplasms malignant | cancer of kidney | cancer of the kidney | kidney cancer | kidney cancer (diagnosis) | kidney cancers | malignant neoplasm of kidney | malignant neoplasm of kidney (diagnosis) | malignant neosplasm of the kidney | malignant renal tumors | malignant tumor of kidney | renal cancer | renal cancers MEDLINEPLUS_20151021:
You have two kidneys. They are fist-sized organs on either side of your backbone above your waist. The tubes inside filter and clean your blood, taking out waste products and making urine. Kidney cancer forms in the lining of tiny tubes inside your kidneys.
Kidney cancer becomes more likely as you age. Risk factors include smoking, having certain genetic conditions, and misusing pain medicines for a long time.
You may have no symptoms at first. They may appear as the cancer grows. See your health care provider if you notice
Treatment depends on your age, your overall health and how advanced the cancer is. It might include surgery, chemotherapy, or radiation, biologic, or targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells.
NIH: National Cancer Institute
| NCI2016_02D:Primary or metastatic malignant neoplasm involving the kidney. MSH2017_2016_08_12:D007680|OMIM2016_04_17:607585|SNOMEDCT_US_2016_09_01:154542008|SNOMEDCT_US_2016_09_01:188249002|SNOMEDCT_US_2016_09_01:363518003|SNOMEDCT_US_2016_09_01:93849006 C0039516 Tennis elbow BURSITIS, RADIOHUMERAL | ELBOW, TENNIS | EPICONDYLITIS, RADIOHUMERAL | Elbow, Tennis | Elbows, Tennis | Epicondylitides, Lateral | Epicondylitides, Lateral Humeral | Epicondylitis syndrome of elbow | Epicondylitis, Lateral | Epicondylitis, Lateral Humeral | Epicondylitis;lateralis | Humeral Epicondylitides, Lateral | Humeral Epicondylitis, Lateral | Lateral Epicondylitides | Lateral Epicondylitis | Lateral Epicondylitis (Tennis Elbow) | Lateral Humeral Epicondylitides | Lateral Humeral Epicondylitis | Lateral epicondylitis | Lateral epicondylitis (disorder) | Lateral epicondylitis of elbow | Lateral epicondylitis of elbow joint (disorder) | Lateral epicondylitis of elbow joint (disorder) [Ambiguous] | TENNIS ELBOW | Tennis Elbow | Tennis Elbow [Disease/Finding] | Tennis Elbows | Tennis elbow | Tennis elbow - epicondylitis | Tennis elbow syndrome | bursitis; radiohumeral | epicondylitis lateralis | epicondylitis; lateral | lateral epicondylitis | lateral epicondylitis (diagnosis) | lateral epicondylitis (tennis elbow) | lateral humeral epicondylitis | lateral; epicondylitis | lateralis epicondylitis | radiohumeral bursitis | radiohumeral; bursitis | tennis elbow | tennis elbows MSH2017_2016_08_12:A condition characterized by pain in or near the lateral humeral epicondyle or in the forearm extensor muscle mass as a result of unusual strain. It occurs due repetitive stresses on the elbow from activities such as tennis playing. ICD10CM_2017:M77.1|ICD9CM_2014:726.32|MSH2017_2016_08_12:D013716|SNOMEDCT_US_2016_09_01:156659008|SNOMEDCT_US_2016_09_01:202855006|SNOMEDCT_US_2016_09_01:24133009|SNOMEDCT_US_2016_09_01:268088003 C3887517 Childhood brain stem gliosarcoma Childhood Brain Stem Gliosarcoma | childhood brain stem gliosarcoma | childhood brainstem gliosarcoma | gliosarcoma, childhood brain stem NCI2016_02D:A gliosarcoma that arises from the brain stem and occurs during childhood. C1879737 Aromatherapy and essential oils Aromatherapy | Aromatherapy and Essential Oils | aromatherapy NCI2016_02D:The use of fragrant essences or extracts from plants to treat a variety of health conditions and support and balance the mind, body, and spirit. | NCI2016_NCI-GLOSS_1602D:A type of complementary and alternative medicine that uses plant oils that give off strong pleasant aromas (smells) to promote relaxation, a sense of well-being, and healing. C0021308 Infarction INFARCT | INFARCT INFARCTION | INFARCTS | Infarct | Infarct (morphologic abnormality) | Infarct infarction | Infarct, NOS | Infarction | Infarction NOS | Infarction [Disease/Finding] | Infarction, NOS | Infarctions | Infarcts | infarct | infarction CHV2011_02:tissue death caused by blocked blood circulation | CSP2006:sudden insufficient blood supply to an area, which results in necrosis of that area; usually caused by a thrombus, an embolus, or a vascular torsion. | MSH2017_2016_08_12:Formation of an infarct, which is NECROSIS in tissue due to local ISCHEMIA resulting from obstruction of BLOOD CIRCULATION, most commonly by a THROMBUS or EMBOLUS. | NCI2016_02D:A localized pathological necrosis of tissue resulting from obstruction of the blood supply usually by a thrombus, an embolus, or vascular torsion. | NCI2016_CDISC_1602D:Localized necrosis of tissue resulting from obstruction of the blood supply usually by a thrombus, an embolus, or vascular torsion. MSH2017_2016_08_12:D007238|OMIM2016_04_17:MTHU023634|SNOMEDCT_US_2016_09_01:55641003 C0232943 Intermenstrual heavy bleeding Intermenstrual heavy bleeding | Intermenstrual heavy bleeding (finding) | MENOMETRORRHAGIA | Menometrorrhagia | Menometrorrhagia (finding) | Menometrorrhagia (finding) [Ambiguous] | Metromenorrhagia | menometrorrhagia | menometrorrhagia (diagnosis) | metromenorrhagia HPO2016_07_04:Prolonged/excessive menses and bleeding at irregular intervals. [pmid:22594864] HPO2016_07_04:HP:0400008|ICD10CM_2017:N92.1|SNOMEDCT_US_2016_09_01:314631008|SNOMEDCT_US_2016_09_01:351814001|SNOMEDCT_US_2016_09_01:57153001 C3648279 Late effects of cerebral infarction vision disturbances late effects of cerebral infarction vision disturbances | late effects of cerebral infarction: vision disturbances | late effects of cerebral infarction: vision disturbances (diagnosis) C2118398 Fetal bradycardia during labor fetal bradycardia during labor | fetal bradycardia during labor (diagnosis) C0559193 Penicillin-induced angio-edema-urticaria Penicillin-induced angio-edema-urticaria | Penicillin-induced angio-oedema-urticaria | Penicillin-induced angioedema-urticaria | Penicillin-induced angioedema-urticaria (disorder) SNOMEDCT_US_2016_09_01:277785006 C4015701 Meckel syndrome 12 MECKEL SYNDROME 12 | MKS12 OMIM2016_04_17:616258 C1843173 Charcot-marie-tooth disease, type 2h CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH PYRAMIDAL FEATURES, AUTOSOMAL RECESSIVE | CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH PYRAMIDAL FEATURES, AUTOSOMAL RECESSIVE | CMT2H | Charcot-Marie-Tooth Neuropathy, Axonal, With Pyramidal Features, Autosomal Recessive | Charcot-Marie-Tooth disease, Type 2H | Charcot-Marie-Tooth disease, axonal, Type 2H | Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive | Cmt2h | charcot-marie-tooth disease type 2h | charcot-marie-tooth disease type 2h (diagnosis) MSH2017_2016_08_12:C535415|OMIM2016_04_17:607731 C0795996 Striatonigral degeneration, infantile (disorder) BILATERAL STRIATAL NECROSIS, INFANTILE | Bilateral Striatal Necrosis, Infantile | IBSN | INFANTILE BILATERAL STRIATAL NECROSIS | Infantile bilateral striatal necrosis | Infantile striatonigral degeneration | Infantile striatonigral degeneration (disorder) | SNDI | STRIATAL DEGENERATION, FAMILIAL | STRIATONIGRAL DEGENERATION, INFANTILE | STRIATONIGRAL DEGENERATION, INFANTILE (disorder) | Striatal Degeneration, Familial | Striatal degeneration familial | Striatonigral Degeneration, Infantile | Striatonigral degeneration infantile | familial striatal degeneration | infantile bilateral striatal necrosis (IBSN) syndrome | infantile bilateral striatal necrosis syndrome | infantile striatonigral degeneration JABL99:Degeneration of the caudate nucleus, putamen, and sometimes globus pallidus associated with choreoathetosis, abnormal eye movements, seizures, and mental retardation. Symptoms usually appear after a severe infectious disease. | SNOMEDCT_US_2016_09_01:Comprises of several syndromes of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus with characteristics of developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. Can be familial or sporadic. The familial form has an insidious onset and a slowly progressive downhill course, while the sporadic form is associated with abrupt neurologic dysfunction following an acute systemic febrile illness such as a mycoplasma, measles or streptococcus infection. Familial disease can be inherited as an autosomal recessive or mitochondrial disorder. MSH2017_2016_08_12:C537500|OMIM2016_04_17:271930|OMIM2016_04_17:605815|SNOMEDCT_US_2016_09_01:718174008 C0432348 Crandall syndrome Crandall syndrome | Crandall's syndrome | Crandall's syndrome (disorder) SNOMEDCT_US_2016_09_01:278098005 C0238432 Spinal cord, ependymoma Ependymal Neoplasm of Spinal Cord | Ependymal Neoplasm of the Spinal Cord | Ependymal Tumor of Spinal Cord | Ependymal Tumor of the Spinal Cord | Ependymal tumor of spinal cord | Ependymal tumour of spinal cord | Ependymoma of Spinal Cord | Ependymoma of spinal cord | Ependymoma of spinal cord (disorder) | Ependymoma of the Spinal Cord | SPINAL CORD, EPENDYMOMA | Spinal Cord Ependymal Neoplasm | Spinal Cord Ependymal Tumor | Spinal Cord Ependymoma | ependymoma of spinal cord | ependymoma of spinal cord (diagnosis) SNOMEDCT_US_2016_09_01:254949006 C1837758 Bird-like facies Bird-like facial appearance | Bird-like facies HPO2016_07_04:HP:0000320|OMIM2016_04_17:MTHU002027 C3275998 Thrombocythemia 2 THCYT2 | THROMBOCYTHEMIA 2 OMIM2016_04_17:159530|OMIM2016_04_17:601977 C1879344 Biliary papillomatosis Bile Duct Papillary Neoplasm | Bile Duct Papillomatosis | Biliary Papillomatosis | Biliary papillomatosis | IPN | Intraductal Papillary Neoplasm NCI2016_02D:A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts. SNOMEDCT_US_2016_09_01:128663007 C0034494 Rabies (disorder) HYDROPHOBIA | Hydrophobia | Hydrophobia (finding) | Infection due to Rabies virus | LYSSA | Lyssa | Lyssa - rabies | Lyssas | RABIES | Rabies | Rabies (& hydrophobia) | Rabies (& hydrophobia) (disorder) | Rabies (disorder) | Rabies - hydrophobia | Rabies [Disease/Finding] | Rabies encephalitis | Rabies viral infections | Rabies virus infection | Rabies, NOS | Rabies, unspecified | St Hubert's disease | [X]Rabies, unspecified | [X]Rabies, unspecified (disorder) | hydrophobia | lyssa | rabies | rabies (diagnosis) CSP2006:acute infectious disease of the central nervous system affecting almost all mammals, including humans; it is caused by a rhabdovirus and usually spread by contamination with virus-laden saliva of bites inflicted by rabid animals; important animal vectors include the dog, cat, vampire bat, mongoose, skunk, wolf, raccoon, and fox. | MEDLINEPLUS_20151021:Rabies is a deadly animal disease caused by a virus. It can happen in wild animals, including raccoons, skunks, bats and foxes, or in dogs, cats or farm animals. People get it from the bite of an infected animal.
In people, symptoms of rabies include fever, headache and fatigue, then confusion, hallucinations and paralysis. Once the symptoms begin, the disease is usually fatal. A series of shots can prevent rabies in people exposed to the virus. You need to get them right away. If an animal bites you, wash the wound well; then get medical care.
To help prevent rabies
Centers for Disease Control and Prevention
| MSH2017_2016_08_12:Acute VIRAL CNS INFECTION affecting mammals, including humans. It is caused by RABIES VIRUS and usually spread by contamination with virus-laden saliva of bites inflicted by rabid animals. Important animal vectors include the dog, cat, bat, fox, raccoon, skunk, and wolf. | NCI2016_02D:A life-threatening viral infection caused by the neurotropic Rabies virus. It is transmitted to humans usually from a bite by an infected dog. The initial signs and symptoms include malaise, fever, and headache, followed by the central nervous system manifestations which include abrupt behavioral changes. Paralysis, lethargy, and coma follow the behavioral changes. | NCI2016_NCI-GLOSS_1602D:A disease of the nervous system caused by the rabies virus. Rabies is marked by an increase in saliva production, abnormal behavior, and eventual paralysis and death. ICD10CM_2017:A82|ICD10CM_2017:A82.9|ICD9CM_2014:071|MSH2017_2016_08_12:D011818|SNOMEDCT_US_2016_09_01:14168008|SNOMEDCT_US_2016_09_01:186644005|SNOMEDCT_US_2016_09_01:187393002|SNOMEDCT_US_2016_09_01:275370001 C0085694 Chronic cholecystitis CHOLECYSTITIS CHRONIC | CHOLECYSTITIS, CHRONIC | Cholecystitis chronic | Cholecystitis chronic NOS | Chronic Cholecystitis | Chronic calculous cholecystitis | Chronic cholecystitis | Chronic cholecystitis (disorder) | Chronic cholecystitis, NOS | cholecystitis chronic | cholecystitis; chronic | chronic cholecystitis | chronic cholecystitis (diagnosis) | chronic; cholecystitis ICD10CM_2017:K81.1|ICD9CM_2014:575.11|SNOMEDCT_US_2016_09_01:155828004|SNOMEDCT_US_2016_09_01:20824003 C1835993 Loss of ability to walk in early childhood Loss of ability to walk in early childhood HPO2016_07_04:HP:0008945|OMIM2016_04_17:MTHU000656 C4025830 Peripheral axonal degeneration Peripheral axonal degeneration HPO2016_07_04:Progressive deterioration of peripheral axons. [HPO:probinson] HPO2016_07_04:HP:0000764 C1336344 Stage iva laryngeal verrucous carcinoma Stage IVA Laryngeal Verrucous Carcinoma | Stage IVA Laryngeal Verrucous Carcinoma AJCC v7 | Stage IVA Larynx Verrucous Carcinoma | Stage IVA Verrucous Carcinoma of Larynx | Stage IVA Verrucous Carcinoma of the Larynx NCI2016_02D:Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); T4a: Supraglottis: Moderately advanced local disease. Tumor invades through the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). Glottis: Moderately advanced local disease. Tumor invades through the outer cortex of the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). Subglottis: Moderately advanced local disease. Tumor invades cricoid or thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.) C1333750 Colloid carcinoma of gallbladder Colloid Carcinoma of Gallbladder | Colloid Carcinoma of the Gallbladder | Colloidal Carcinoma of Gallbladder | Colloidal Carcinoma of the Gallbladder | Gallbladder Colloid Carcinoma | Gallbladder Colloidal Carcinoma | Gallbladder Mucinous Adenocarcinoma | Mucinous Carcinoma of Gallbladder | Mucinous Carcinoma of the Gallbladder | mucinous adenocarcinoma of gallbladder | mucinous adenocarcinoma of gallbladder (diagnosis) NCI2016_02D:An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor. C3275476 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA OMIM2016_04_17:300863 C4025692 Abnormality of calvarial morphology Abnormality of calvarial morphology | Abnormality of cranial bone morphology | Abnormality of the shape of calvarium | Abnormality of the shape of cranium | Abnormally shaped skull HPO2016_07_04:The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. [DDD:awilkie, HPO:probinson] HPO2016_07_04:HP:0002648 C2930913 Chromosome 13q deletion Chromosome 13q deletion | Chromosome 13q monosomy | Deletion 13q | Loss of Chromosome 13q | Monosomy 13q | del(13q) MSH2017_2016_08_12:C535484 C4021085 Abnormality of brain morphology Abnormal shape of brain | Abnormality of brain morphology | Abnormality of the brain HPO2016_07_04:A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. [HPO:probinson] HPO2016_07_04:HP:0012443 C1844662 Unexplained fevers Unexplained fever | Unexplained fevers HPO2016_07_04:Episodes of fever for which no infectious cause can be identified. [HPO:curators] HPO2016_07_04:HP:0001955|OMIM2016_04_17:MTHU007812|OMIM2016_04_17:MTHU040003 C0085399 Ehrlichiosis EHRLICHIOSES | EHRLICHIOSIS | Ehrlichioses | Ehrlichiosis | Ehrlichiosis (disorder) | Ehrlichiosis [Disease/Finding] | Ehrlichiosis, NOS | Ehrlichiosis, unspecified | Erlichiosis | ehrlichioses | ehrlichiosis | ehrlichiosis (diagnosis) | erlichiosis CSP2006:febrile illness caused by infection with Ehrlichia species. | MSH2017_2016_08_12:A tick-borne disease characterized by FEVER; HEADACHE; myalgias; ANOREXIA; and occasionally RASH. It is caused by several bacterial species and can produce disease in DOGS; CATTLE; SHEEP; GOATS; HORSES; and humans. The primary species causing human disease are EHRLICHIA CHAFFEENSIS; ANAPLASMA PHAGOCYTOPHILUM; and Ehrlichia ewingii. ICD10CM_2017:A77.4|ICD10CM_2017:A77.40|ICD9CM_2014:082.4|ICD9CM_2014:082.40|MSH2017_2016_08_12:D016873|SNOMEDCT_US_2016_09_01:77361002 C1852267 Optic atrophy 1 and deafness OPTIC ATROPHY 1 AND DEAFNESS | Optic atrophy 1 and deafness MSH2017_2016_08_12:C537124 C3641708 Adrenal cortex carcinoma overall ensat v7 staging Adrenal Cortex Carcinoma Overall ENSAT v7 Staging NCI2016_02D:A term that refers to the staging of adrenal cortical carcinoma according to the European network for the study of adrenal tumors (ENSAT), 7th edition, 2009. C0543891 Neuroleptic-induced tardive dyskinesia Neuroleptic induced tardive dyskinesia | Neuroleptic-Induced Tardive Dyskinesia | Neuroleptic-induced tardive dyskinesia | Neuroleptic-induced tardive dyskinesia (disorder) | Tardive oral dyskinesia | Tardive oral dyskinesia, neuroleptic drug | dyskinesia; neuroleptic-induced | neuroleptic-induced tardive dyskinesia | neuroleptic-induced tardive dyskinesia (diagnosis) | neuroleptic; dyskinesia ICD10CM_2017:G24.01|SNOMEDCT_US_2016_09_01:38941006 C2049069 Indolent multiple myeloma Indolent Multiple Myeloma | Indolent Plasma Cell Myeloma | Indolent multiple myeloma | Indolent multiple myeloma (disorder) | Indolent myeloma | indolent multiple myeloma | indolent multiple myeloma (diagnosis) SNOMEDCT_US_2016_09_01:441313008 C0266294 Unilateral agenesis of kidney Absent kidney on one side | Congenital absence of one kidney | Missing one kidney | Renal agenesis, unilateral | SOLITARY KIDNEY | Solitary kidney | Unilateral Renal Agenesis | Unilateral agenesis of kidney | Unilateral agenesis of kidney (disorder) | Unilateral agenesis of kidney (situation) | Unilateral congenital absence of kidney | Unilateral kidney agenesis | Unilateral renal agenesis | Unilateral renal agenesis (disorder) | absence of one kidney congenital | agenesis; kidney(s), unilateral | congenital absence of kidney | congenital absence of one kidney | congenital absence of one kidney (diagnosis) | kidney; absence, congenital, unilateral | kidney; agenesis, unilateral | kidney; solitary, congenital | kidneys solitary | renal agenesis unilateral | renal unilateral agenesis | solitary kidney | solitary; kidney, congenital | unilateral renal agenesis HPO2016_07_04:A unilateral form of agenesis of the kidney. [HPO:probinson] | NCI2016_02D:A congenital abnormality characterized by the absence of one kidney. HPO2016_07_04:HP:0000122|ICD10CM_2017:Q60.0|OMIM2016_04_17:MTHU036800|OMIM2016_04_17:MTHU036908|OMIM2016_04_17:MTHU037202|OMIM2016_04_17:MTHU039604|SNOMEDCT_US_2016_09_01:204944006|SNOMEDCT_US_2016_09_01:55726006 C2063080 Bashful kidney Paruresis | Shy bladder | bashful kidney | bashful kidney (diagnosis) | paruresis | shy bladder | shy micturation C3151433 Osteogenesis imperfecta, type xii OI, TYPE XII | OI12 | OSTEOGENESIS IMPERFECTA, TYPE XII OMIM2016_04_17:613849 C2931545 Short stature and locking fingers Short stature and locking fingers MSH2017_2016_08_12:C537603 C0015190 Euthyroid sick syndromes EUTHYROID SICK SYNDROMEA cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery.
A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are
Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts.
NIH: National Eye Institute
| MSH2017_2016_08_12:Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) | NCI2016_02D:Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) | NCI2016_CDISC_1602D:Opacity of the crystalline lens. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) | NCI2016_CTCAE_1602D:A disorder characterized by partial or complete opacity of the crystalline lens of one or both eyes. This results in a decrease in visual acuity and eventual blindness if untreated. | NCI2016_NCI-GLOSS_1602D:A condition in which the lens of the eye becomes cloudy. Symptoms include blurred, cloudy, or double vision; sensitivity to light; and difficulty seeing at night. Without treatment, cataracts can cause blindness. There are many different types and causes of cataracts. They may occur in people of all ages, but are most common in the elderly. | NCI2016_NICHD_1602D:Opacity of the crystalline lens. HPO2016_07_04:HP:0000518|ICD10CM_2017:H26.9|ICD9CM_2014:366|ICD9CM_2014:366.9|MSH2017_2016_08_12:D002386|OMIM2016_04_17:MTHU000155|OMIM2016_04_17:MTHU004637|OMIM2016_04_17:MTHU007394|SNOMEDCT_US_2016_09_01:128306009|SNOMEDCT_US_2016_09_01:155126003|SNOMEDCT_US_2016_09_01:155130000|SNOMEDCT_US_2016_09_01:193570009|SNOMEDCT_US_2016_09_01:193623003|SNOMEDCT_US_2016_09_01:247053007|SNOMEDCT_US_2016_09_01:62795009 C2829267 Deafness, autosomal recessive 88 DEAFNESS, AUTOSOMAL RECESSIVE 88 | DFNB88 OMIM2016_04_17:615429 C3494900 Eiee - early infantile epileptic encephalopathy, non-refractory EIEE - Early infantile epileptic encephalopathy, non-refractory | Early infantile epileptic encephalopathy, non-intractable | Early infantile epileptic encephalopathy, non-refractory | Early infantile epileptic encephalopathy, non-refractory (disorder) | Ohtahara syndrome, non-refractory SNOMEDCT_US_2016_09_01:431081000124105 C1851120 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia CHROMOSOME 17q24.2-q24.3 DELETION SYNDROME | CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME | Chromosome 17q24.2-q24.3 Deletion Syndrome | FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS | Fibromatosis, Gingival, with Hypertrichosis | HTC3 | HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA | HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA | Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia | MICRODELETION 17q24.2-q24.3 SYNDROME | MICRODUPLICATION 17q24.2-q24.3 SYNDROME | Microdeletion 17q24.2-q24.3 Syndrome MSH2017_2016_08_12:C565016|OMIM2016_04_17:135400 C0338428 Gae - granulomatous amebic encephalomyelitis GAE - Granulomatous amebic encephalomyelitis | GAE - Granulomatous amoebic encephalomyelitis | Granulomatous amebic encephalitis | Granulomatous amebic encephalitis (disorder) | Granulomatous amebic encephalomyelitis | Granulomatous amoebic encephalitis | Granulomatous amoebic encephalomyelitis | PAM - Primary amebic meningoencephalitis | PAM - Primary amoebic meningoencephalitis SNOMEDCT_US_2016_09_01:230187000 C0455383 Fh: depression FH: Depression | FH: Depression (situation) | Family history of depression | Family history: Depression | Family history: Depression (context-dependent category) | Family history: Depression (situation) SNOMEDCT_US_2016_09_01:137731000|SNOMEDCT_US_2016_09_01:160329001 C1838779 Eiken skeletal dysplasia BONE MODELING DEFECT OF HANDS AND FEET | Bone Modeling Defect of Hands and Feet | EIKEN SKELETAL DYSPLASIA | EIKEN SYNDROME | Eiken Skeletal Dysplasia MSH2017_2016_08_12:C564010|OMIM2016_04_17:168468|OMIM2016_04_17:600002 C0020490 Hyperopia Far-sightedness | Farsighted | Farsightedness | HYPEROPIA | Hypermetropia | Hypermetropia (disorder) | Hypermetropia (farsightedness) | Hyperopia | Hyperopia [Disease/Finding] | Long-sighted | Long-sightedness | Long;sight | Longsighted | Longsightedness | far sightedness | far-sightedness | farsighted | farsightedness | hypermetropia | hypermetropia (diagnosis) | hyperopia | long sight | long sighted HPO2016_07_04:An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. [HPO:probinson] | MSH2017_2016_08_12:A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed) HPO2016_07_04:HP:0000540|ICD10CM_2017:H52.0|ICD9CM_2014:367.0|MSH2017_2016_08_12:D006956|OMIM2016_04_17:MTHU036450|OMIM2016_04_17:MTHU036505|OMIM2016_04_17:MTHU038331|SNOMEDCT_US_2016_09_01:155132008|SNOMEDCT_US_2016_09_01:38101003 C1333097 Colon neuroendocrine neoplasm Colon Neuroendocrine Neoplasm | Colonic Neuroendocrine Neoplasm | Neuroendocrine Neoplasm of Colon | Neuroendocrine Neoplasm of the Colon NCI2016_02D:A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). C0024215 Lymphangiectasis, intestinal ENTEROPATHY, HYPERCATABOLIC PROTEIN LOSING | ENTEROPATHY, LYMPHANGIECTATIC PROTEIN-LOSING | HYPOPROTEINEMIA, FAMILIAL, WITH LYMPHANGIECTATIC ENTEROPATHY | Hypercatabolic protein-losing enteropathy | Intestinal Lymphangiectases | Intestinal Lymphangiectasis | Intestinal lymphangiectasia | Intestinal lymphangiectasia (disorder) | Intestinal lymphangiectasia syndrome | Intestinal lymphangiectasis | Intestinal lymphangiectasis (disorder) | LYMPHANGIECTASIA, INTESTINAL | LYMPHEDEMA, NEONATAL, DUE TO EXUDATIVE ENTEROPATHY | Lymphangiectases, Intestinal | Lymphangiectasia intestinal | Lymphangiectasia, Intestinal | Lymphangiectasis, Intestinal | Lymphangiectasis, Intestinal [Disease/Finding] | intestinal lymphangiectasia | intestinal lymphangiectasia (diagnosis) | intestinal lymphangiectasis HPO2016_07_04:Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines. [HPO:probinson] | MSH2017_2016_08_12:Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by DIARRHEA; HYPOPROTEINEMIA; peripheral and/or abdominal EDEMA; and PROTEIN-LOSING ENTEROPATHIES. HPO2016_07_04:HP:0002593|MSH2017_2016_08_12:D008201|OMIM2016_04_17:152800|OMIM2016_04_17:MTHU012471|SNOMEDCT_US_2016_09_01:197260007|SNOMEDCT_US_2016_09_01:234103008 C4024957 Proximal spinal muscular atrophy Proximal spinal muscular atrophy HPO2016_07_04:Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. [HPO:curators] HPO2016_07_04:HP:0006959 C2108146 Contractures of the interphalangeal joint of the thumb Contractures of the interphalangeal joint of the thumb | Interphalangeal extension contractures of thumbs | contracture of interphalangeal joint of thumb | contracture of interphalangeal joint of thumb (physical finding) | thumb IP joint motion contracture HPO2016_07_04:Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis. [HPO:probinson] HPO2016_07_04:HP:0009626 C4225373 Cms2c CMS2C | MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY OMIM2016_04_17:616314 C0034359 Cell pus urine High urine neutrophil count | PYURIA | Pus cells in urine | Pus cells in urine (finding) | Pus in urine | Pyuria | Pyuria (finding) | Pyuria [Disease/Finding] | Pyurias | URINE CONTAINING PUS | URINE PURULENT | Urine containing pus | Urine purulent | cell pus urine | cells pus urine | purulent; urinary | pus cells in urine | pus in urine | pus in urine (symptom) | pus urine | pus; urine | pyuria | reported pyuria | the urine contains pus (pyuria) | urine; pus HPO2016_07_04:Presence of an increased number of neutrophils in the urine. [HPO:probinson] | MSH2017_2016_08_12:The presence of white blood cells (LEUKOCYTES) in the urine. It is often associated with bacterial infections of the urinary tract. Pyuria without BACTERIURIA can be caused by TUBERCULOSIS, stones, or cancer. | NCI2016_02D:The presence of excessive white blood cells in the urine as determined by urinalysis. | NCI2016_NICHD_1602D:The presence of excessive white blood cells in the urine as determined by urinalysis. HPO2016_07_04:HP:0012085|MSH2017_2016_08_12:D011776|SNOMEDCT_US_2016_09_01:144593007|SNOMEDCT_US_2016_09_01:167358001|SNOMEDCT_US_2016_09_01:275765006|SNOMEDCT_US_2016_09_01:4800001 C1833170 Wiskott-aldrich syndrome, autosomal dominant form WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM | Wiskott-Aldrich Syndrome, Autosomal Dominant Form MSH2017_2016_08_12:C563431|OMIM2016_04_17:600903 C0236733 Amphetamine-related disorders Amphetamine Related Disorders | Amphetamine induced mental disorder | Amphetamine-Related Disorders | Amphetamine-Related Disorders [Disease/Finding] | Amphetamine-induced organic mental disorder | Amphetamine-induced organic mental disorder (disorder) | Amphetamine-induced organic mental disorder, NOS | Amphetamine-related disorder | Amphetamine-related disorder, NOS | Disorder, Amphetamine-Related | Disorders, Amphetamine-Related | amphetamine-related disorders | amphetamine-related disorders (diagnosis) MSH2017_2016_08_12:Disorders related or resulting from use of amphetamines. MSH2017_2016_08_12:D019969|SNOMEDCT_US_2016_09_01:83367009 C3275963 Abnormal iris vasculature Abnormal iris vasculature | Abnormality of iris blood vessels HPO2016_07_04:HP:0007905|OMIM2016_04_17:MTHU033247 C3279738 Cerebral palsy, spastic quadriplegic, 5, formerly CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 5, FORMERLY | CPSQ5, FORMERLY | SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE | SPG47 OMIM2016_04_17:607245|OMIM2016_04_17:614066 C0085278 Antiphospholipid syndrome APL - Antiphospholipid syndrome | APS - Antiphospholipid syndrome | Anti Phospholipid Antibody Syndrome | Anti Phospholipid Syndrome | Anti-Phospholipid Antibody Syndrome | Anti-Phospholipid Syndrome | Antibody Syndrome, Anti-Phospholipid | Antibody Syndrome, Antiphospholipid | Anticardiolipin syndrome | Antiphospholipid Antibody Syndrome | Antiphospholipid Antibody Syndromes | Antiphospholipid Syndrome | Antiphospholipid Syndrome [Disease/Finding] | Antiphospholipid antibody syndrome | Antiphospholipid syndrome | Antiphospholipid syndrome (disorder) | Hughes Syndrome | Syndrome, Anti-Phospholipid | Syndrome, Anti-Phospholipid Antibody | Syndrome, Antiphospholipid | Syndrome, Antiphospholipid Antibody | Syndrome, Hughes | anti phospholipid syndrome | anti phospholipids syndrome | anti-phospholipid syndrome | anticardiolipin syndrome | anticardiolipin; syndrome | antiphospholipid antibody syndrome | antiphospholipid syndrome | antiphospholipid syndrome (diagnosis) | antiphospholipid; syndrome | antiphospholipids syndrome | syndrome; anticardiolipin | syndrome; antiphospholipid CSP2006:associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses; involves the presence of antibodies directed against phospholipids; cardiolipins show markedly elevated levels of anticardiolipin antibodies; present also are high levels of lupus anticoagulant; in pregnancy it can cause abortion. | MSH2017_2016_08_12:The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR). | NCI2016_02D:A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease. | NCI2016_NICHD_1602D:A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and stillbirth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and certain infections. ICD10CM_2017:D68.61|MSH2017_2016_08_12:D016736|SNOMEDCT_US_2016_09_01:19267009|SNOMEDCT_US_2016_09_01:201450008|SNOMEDCT_US_2016_09_01:26843008 C1856603 Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO | Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to MSH2017_2016_08_12:C565557|OMIM2016_04_17:230450|OMIM2016_04_17:606857 C2677879 Hypospadias 2, x-linked HYPOSPADIAS 2, X-LINKED | HYSP2 | Hypospadias 2, X-Linked | Hysp2 MSH2017_2016_08_12:C567462|OMIM2016_04_17:300120|OMIM2016_04_17:300758 C0007196 Restrictive cardiomyopathy CARDIOMYOPATHY, RESTRICTIVE | Cardiomyopathies, Restrictive | Cardiomyopathy, Restrictive | Cardiomyopathy, Restrictive [Disease/Finding] | Cardiomyopathy, constrictive | Cardiomyopathy, restrictive | Cardiomyopathy;restrictive | Constrictive cardiomyopathy | Constrictive cardiomyopathy NOS | Familial Restrictive Cardiomyopathy | Primary restrictive cardiomyopathy | Primary restrictive cardiomyopathy (disorder) | RCM - Restrictive cardiomyopathy | Restrictive Cardiomyopathies | Restrictive Cardiomyopathy | Restrictive cardiomyopathy | Restrictive cardiomyopathy (disorder) | cardiomyopathy restrictive | cardiomyopathy; restrictive | constrictive cardiomyopathy | constrictive cardiomyopathy (diagnosis) | restrictive cardiomyopathy | restrictive cardiomyopathy (diagnosis) | restrictive; cardiomyopathy HPO2016_07_04:Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. [HPO:probinson, pmid:17916581] | MSH2017_2016_08_12:A form of CARDIAC MUSCLE disease in which the ventricular walls are excessively rigid, impeding ventricular filling. It is marked by reduced diastolic volume of either or both ventricles but normal or nearly normal systolic function. It may be idiopathic or associated with other diseases (ENDOMYOCARDIAL FIBROSIS or AMYLOIDOSIS) causing interstitial fibrosis. | NCI2016_02D:A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium. | NCI2016_CTCAE_1602D:A disorder characterized by an inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and loses its flexibility. HPO2016_07_04:HP:0001723|ICD10CM_2017:I42.5|MSH2017_2016_08_12:D002313|OMIM2016_04_17:561000|OMIM2016_04_17:MTHU002870|OMIM2016_04_17:MTHU024747|SNOMEDCT_US_2016_09_01:389996009|SNOMEDCT_US_2016_09_01:415295002|SNOMEDCT_US_2016_09_01:90828009 C0697038 Asclepias tuberosa ASCLEPIAS TUBEROSA WHOLE | Asclepias tuberosa | Asclepias tuberosa / pleurisy root | Asclepias tuberosa L. | Butterfly Milkweed | Butterfly Weed | Pleurisy ALT2009:Pleurisy root. NCBI2016_03_21:141466 C1859178 Progressive peripheral neuropathy Peripheral neuropathy, progressive | Progressive peripheral neuropathy | Progressive polyneuropathy HPO2016_07_04:HP:0007133|OMIM2016_04_17:MTHU011635|OMIM2016_04_17:MTHU013914|OMIM2016_04_17:MTHU032908 C1962983 Cataract adverse event Cataract | Cataract Adverse Event C0015814 Femur head necrosis FEMUR HEAD NECROSIS | Femur Head Necroses | Femur Head Necrosis | Femur Head Necrosis [Disease/Finding] | Head Necrosis, Femur | Necrosis, Femur Head | femur head necrosis MSH2017_2016_08_12:Aseptic or avascular necrosis of the femoral head. The major types are idiopathic (primary), as a complication of fractures or dislocations, and LEGG-CALVE-PERTHES DISEASE. MSH2017_2016_08_12:D005271 C1313963 Diarrhea due to staphylococcal toxin Diarrhea caused by staphylococcus | Diarrhea caused by staphylococcus toxin | Diarrhea caused by staphylococcus toxin (disorder) | Diarrhea due to staphylococcal toxin | Diarrhea due to staphylococcus | Diarrhea due to staphylococcus toxin | Diarrhea due to staphylococcus toxin (disorder) | Diarrhoea caused by staphylococcus | Diarrhoea caused by staphylococcus toxin | Diarrhoea due to staphylococcal toxin | Diarrhoea due to staphylococcus | Diarrhoea due to staphylococcus toxin | diarrhea; Staphylococcus | infectious diarrhea due to staphylococcus toxin | infectious diarrhea due to staphylococcus toxin (diagnosis) | staphylococcus; diarrhea SNOMEDCT_US_2016_09_01:186141003|SNOMEDCT_US_2016_09_01:302808000|SNOMEDCT_US_2016_09_01:398570005 C0155918 Compensatory; emphysema Compensatory emphysema | Compensatory emphysema (disorder) | compensatory emphysema | compensatory emphysema (diagnosis) | compensatory; emphysema | emphysema; compensatory ICD10CM_2017:J98.3|ICD9CM_2014:518.2|SNOMEDCT_US_2016_09_01:33325001 C3203358 Hypoventilation ALVEOLAR AERATION DECREASED | Alveolar aeration decreased | Alveolar hypoventilation | Alveolar hypoventilation (finding) | HYPOVENTILATION | Hypoventilation | Hypoventilation (finding) | Hypoventilation [Disease/Finding] | Hypoventilation, NOS | Hypoventilation, alveolar | Hypoventilations | Slow breathing | Under breathing | Ventilatory failure | alveolar hypoventilation | hypoventilation CSP2006:reduction in the amount of air entering the pulmonary alveoli. | HPO2016_07_04:A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). [HPO:probinson] | MSH2017_2016_08_12:A reduction in the amount of air entering the pulmonary alveoli. | NCI2016_02D:A state in which there is a reduced amount of air entering the pulmonary alveoli. | NCI2016_FDA_1602D:A state in which there is a reduced amount of air entering the pulmonary alveoli. | NCI2016_NICHD_1602D:A decrease in ventilation resulting in hypercapnea. HPO2016_07_04:HP:0002791|MSH2017_2016_08_12:D007040|OMIM2016_04_17:MTHU041452|OMIM2016_04_17:MTHU041734|SNOMEDCT_US_2016_09_01:15993004|SNOMEDCT_US_2016_09_01:31515003 C0036220 Kaposi sarcoma ENDOTHELIOSARCOMA | HHV 8 | HHV8 | KAPOSI CANCER, SARCOMA | KAPOSI SARCOMA | KAPOSIS SARCOMA | KS | KS - Kaposi's sarcoma | Kaposi Sarcoma | Kaposi sarcoma | Kaposi sarcoma, morphology | Kaposi's Sarcoma | Kaposi's sarcoma | Kaposi's sarcoma (clinical) | Kaposi's sarcoma (diagnosis) | Kaposi's sarcoma (disorder) | Kaposi's sarcoma (morphologic abnormality) | Kaposi's sarcoma NOS | Kaposi's sarcoma of unspecified site | Kaposi's sarcoma, morphology | Kaposi's sarcoma, morphology (morphologic abnormality) | Kaposi's sarcoma, unspecified | Kaposi's sarcoma, unspecified site | Kaposi's sarcoma,unspecifd | Kaposi's sarcomas | Kaposi; sarcoma | Kaposi; sarcoma, unspecified site | Kaposis Sarcoma | Kaposis sarcoma | Multiple Hemorrhagic Sarcoma | Multiple Idiopathic Pigmented Hemangiosarcoma | Multiple haemorrhagic sarcoma | Multiple hemorrhagic sarcoma | Multiple idiopathic haemorrhagic sarcoma | Multiple idiopathic hemorrhagic sarcoma | SARCOMA, MULTIPLE IDIOPATHIC HEMORRHAGIC | Sarcoma, Kaposi | Sarcoma, Kaposi [Disease/Finding] | Sarcoma, Kaposi's | Sarcoma;Kaposis | Skin cancer, Kaposi's sarcoma | [M]Kaposi's sarcoma | [X]Kaposi's sarcoma, unspecified | [X]Kaposi's sarcoma, unspecified (disorder) | [X]Kaposi's sarcoma,unspecifd | kaposi sarcoma | kaposi's sarcoma | ks | malignant neoplasm sarcoma Kaposi's | multiple hemorrhagic sarcoma | sarcoma, Kaposi's | sarcoma, multiple hemorrhagic | sarcoma; Kaposi | sarcoma; Kaposi, unspecified site CHV2011_02:a cancer that causes patches of abnormal tissue to grow under the skin, | CSP2006:multicentric, malignant neoplastic vascular proliferation characterized by the development of bluish-red cutaneous nodules, usually on the lower extremities, most often on the toes or feet, and slowly increasing in size and number and spreading to more proximal areas; occurs spontaneously in Jewish and Italian males; aggressive variant in young children is endemic in some areas of Africa; a third form occurs in about 0.04% of kidney transplant patients; there is also a high incidence in AIDS patients; human herpesvirus 8 is the suspected cause. | HPO2016_07_04:A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV). [HPO:sdoelken] | MEDLINEPLUS_20151021:Kaposi's sarcoma is a cancer that causes patches of abnormal tissue to grow under the skin, in the lining of the mouth, nose, and throat or in other organs. The patches are usually red or purple and are made of cancer cells and blood cells. The red and purple patches often cause no symptoms, though they may be painful. If the cancer spreads to the digestive tract or lungs, bleeding can result. Lung tumors can make breathing hard.
Before the HIV/AIDS epidemic, KS usually developed slowly. In HIV/AIDS patients, though, the disease moves quickly. Treatment depends on where the lesions are and how bad they are. Treatment for HIV itself can shrink the lesions. However, treating KS does not improve survival from HIV/AIDS itself.
NIH: National Cancer Institute
| MSH2017_2016_08_12:A multicentric, malignant neoplastic vascular proliferation characterized by the development of bluish-red cutaneous nodules, usually on the lower extremities, most often on the toes or feet, and slowly increasing in size and number and spreading to more proximal areas. The tumors have endothelium-lined channels and vascular spaces admixed with variably sized aggregates of spindle-shaped cells, and often remain confined to the skin and subcutaneous tissue, but widespread visceral involvement may occur. Kaposi's sarcoma occurs spontaneously in Jewish and Italian males in Europe and the United States. An aggressive variant in young children is endemic in some areas of Africa. A third form occurs in about 0.04% of kidney transplant patients. There is also a high incidence in AIDS patients. (From Dorland, 27th ed & Holland et al., Cancer Medicine, 3d ed, pp2105-7) HHV-8 is the suspected cause. | NCI2016_02D:A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS). | NCI2016_NCI-GLOSS_1602D:A type of cancer characterized by the abnormal growth of blood vessels that develop into skin lesions or occur internally. HPO2016_07_04:HP:0100726|ICD10CM_2017:C46|ICD10CM_2017:C46.9|ICD9CM_2014:176|ICD9CM_2014:176.9|MSH2017_2016_08_12:D012514|SNOMEDCT_US_2016_09_01:109385007|SNOMEDCT_US_2016_09_01:154604006|SNOMEDCT_US_2016_09_01:188483007|SNOMEDCT_US_2016_09_01:190112000|SNOMEDCT_US_2016_09_01:49937004 C0206727 Nerve sheath tumors NERVE SHEATH TUMORS | Neoplasm of Nerve Sheath | Neoplasm of the Nerve Sheath | Neoplasm, Nerve Sheath | Neoplasms, Nerve Sheath | Nerve Sheath Neoplasm | Nerve Sheath Neoplasms | Nerve Sheath Neoplasms [Disease/Finding] | Nerve Sheath Tumor | Nerve Sheath Tumors | Nerve sheath tumor | Nerve sheath tumor (morphologic abnormality) | Nerve sheath tumor NOS | Nerve sheath tumor [dup] (morphologic abnormality) | Nerve sheath tumour | Nerve sheath tumour (disorder) | Nerve sheath tumour NOS | Neurofibromas | Tumor of Nerve Sheath | Tumors of the Nerve Sheath | [M]Nerve sheath tumor NOS | [M]Nerve sheath tumor NOS (morphologic abnormality) | [M]Nerve sheath tumour NOS | nerve sheath neoplasm | nerve sheath neoplasms | nerve sheath tumor | nerve sheath tumors | nerve sheath tumour | sheath nerve tumor | tumor nerve sheath CSP2006:neoplasms or tumors arising from nerve sheaths formed by Schwann cells in the peripheral nervous system and by oligodendrocytes in the central nervous system. | MSH2017_2016_08_12:Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category. | NCI2016_02D:A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor. MSH2017_2016_08_12:D018317|SNOMEDCT_US_2016_09_01:115242003|SNOMEDCT_US_2016_09_01:134214003|SNOMEDCT_US_2016_09_01:189946005|SNOMEDCT_US_2016_09_01:189953001 C0003119 Anophthalmos ANOPHTHALMIA | Absence of eyeballs | Absence of globes of eyes | Agenesis of eye | Agenesis of eye (diagnosis) | Agenesis of eye (disorder) | Agenesis of eyes | Anophthalmia | Anophthalmia, clinical | Anophthalmias | Anophthalmos | Anophthalmos (disorder) | Anophthalmos NOS | Anophthalmos NOS (disorder) | Anophthalmos [Disease/Finding] | Anophthalmos, NOS | Aplasia of eye | Clinical anophthalmia | Clinical anophthalmia, unilateral/bilateral | Clinical anophthalmos | Clinical anophthalmos unspec. | Clinical anophthalmos, NOS | Clinical anophthalmos, unspecified | Clinical anophthalmos, unspecified (disorder) | Congenital absence of eye | Congenital absence of eyes | Failure of development of eyeball | Missing eyeball | Missing globe of eye | No eyeball | No globe of eye | Ocular absence | absence; eye, congenital | agenesis; eye | anophthalmia | anophthalmos | anophthalmos (physical finding) | anophthalmos was noted | aplasia; eye | congenital anomalies of eye agenesis | congenital anophthalmos | congenital anophthalmos (diagnosis) | eye; absence, congenital | eye; agenesis | eye; aplasia HPO2016_07_04:Absence of the globe or eyeball. [DDD:ncarter] | MSH2017_2016_08_12:Congenital absence of the eye or eyes. | NCI2016_02D:A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit. HPO2016_07_04:HP:0000528|ICD10CM_2017:Q11.1|ICD9CM_2014:743.0|ICD9CM_2014:743.00|MSH2017_2016_08_12:D000853|OMIM2016_04_17:MTHU004398|OMIM2016_04_17:MTHU011808|OMIM2016_04_17:MTHU051733|SNOMEDCT_US_2016_09_01:204098007|SNOMEDCT_US_2016_09_01:204099004|SNOMEDCT_US_2016_09_01:204100007|SNOMEDCT_US_2016_09_01:204101006|SNOMEDCT_US_2016_09_01:204103009|SNOMEDCT_US_2016_09_01:7183006 C1842155 Flat proximal femoral epiphyses Flat capital femoral epiphyses | Flat capital femoral epiphysis | Flat end part of innermost thighbone | Flat femoral capital epiphyses | Flat proximal femoral epiphyses | Flattened proximal femoral epiphyses HPO2016_07_04:An abnormal flattening of the proximal epiphysis of the femur. [HPO:probinson] HPO2016_07_04:HP:0003370|OMIM2016_04_17:MTHU002264|OMIM2016_04_17:MTHU013103|OMIM2016_04_17:MTHU013108 C0278193 Reading epilepsy EPILEPSY, READING | Epilepsies, Reading | Epilepsies, Reading Reflex | Epilepsy, Reading | Epilepsy, Reading Reflex | Epilepsy, reading | Reading Epilepsies | Reading Epilepsy | Reading Reflex Epilepsies | Reading Reflex Epilepsy | Reading epilepsy | Reading seizure | Reading seizure (finding) | Reflex Epilepsies, Reading | Reflex Epilepsy, Reading | Seizure, reading | reading epilepsy | reading seizures MSH2017_2016_08_12:D020195|OMIM2016_04_17:132300|SNOMEDCT_US_2016_09_01:7689009 C4021630 Broad long bones Broad long bones | Wide long bones | Widened long bones HPO2016_07_04:Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. [HPO:probinson] HPO2016_07_04:HP:0005622 C1834953 Lumbar kyphoscoliosis Lumbar kyphoscoliosis HPO2016_07_04:HP:0004619|OMIM2016_04_17:MTHU017175 C0748720 Chronic sinus disease Chronic sinus disease | SINUS DISEASE CHRONIC HPO2016_07_04:HP:0011109 C0876991 Histiocytosis haematophagic Haemocytophagia | Haemophagocytosis | Hemocytophagia | Hemophagocytosis | Histiocytosis haematophagic | Histiocytosis hematophagic | haemophagocytosis | hemophagocytosis | histiocytosis haematophagic HPO2016_07_04:Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. [HPO:probinson] | NCI2016_02D:The term hemophagocytosis describes the pathologic finding of activated macrophages, engulfing erythrocytes, leukocytes, platelets, and their precursor cells. (from Medscape: Hemophagocytic Syndromes and Infection) HPO2016_07_04:HP:0012156|SNOMEDCT_US_2016_09_01:61070002 C0158360 Fibromatosis plantar Dupuytren disease of foot | Dupuytren's contracture of foot | Dupuytren's contracture of foot (disorder) | Fibromatosis, Plantar | Ledderhose Disease | Ledderhose disease | Ledderhose's Disease | Ledderhose's disease | Plantar Fibromatosis | Plantar fascial fibromatosis | Plantar fascial fibromatosis (disorder) | Plantar fibromatosis | fibromatosis plantar | fibromatosis; plantar | ledderhose's disease | plantar fascial fibromatosis | plantar fascial fibromatosis (diagnosis) | plantar fibromatosis | plantar; fibromatosis MSH2017_2016_08_12:A fibromatosis of the plantar fascia characterized by thickening of the fibrous bands on the plantar aponeurosis in the sole of the foot and toes. | NCI2016_02D:A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern. ICD10CM_2017:M72.2|ICD9CM_2014:728.71|MSH2017_2016_08_12:D000071380|OMIM2016_04_17:MTHU036681|SNOMEDCT_US_2016_09_01:13370002|SNOMEDCT_US_2016_09_01:202882003|SNOMEDCT_US_2016_09_01:240032001 C0341190 Gastritis drug induced Drug-induced gastritis | GASTRITIS DRUG INDUCED | Gastritis medicamentosa | Gastritis medicamentosa (disorder) | drug-induced gastritis | drug-induced gastritis (diagnosis) SNOMEDCT_US_2016_09_01:52305004 C1838111 Bone marrow biopsy shows erythroid hyperplasia Bone marrow biopsy shows erythroid hyperplasia HPO2016_07_04:HP:0012132|OMIM2016_04_17:MTHU006441 C0566602 Primary sclerosing cholangitis CHOLANGITIS, PRIMARY SCLEROSING | Cholangitides, Primary Sclerosing | Cholangitis, Primary Sclerosing | PSC | PSC - Primary sclerosing cholangitis | Primary Sclerosing Cholangitides | Primary Sclerosing Cholangitis | Primary Sclerosing Cholangitis (PSC) | Primary sclerosing cholangitis | Primary sclerosing cholangitis (disorder) | Primary sclerosing cholangitis (disorder) [Ambiguous] | Sclerosing Cholangitides, Primary | Sclerosing Cholangitis | Sclerosing Cholangitis, Primary | cholangitis primary sclerosing | primary sclerosing cholangitis | primary sclerosing cholangitis (diagnosis) CSP2006:recurrent or persistant obstructive jaundice, frequently with ulcerative colitis, due to extensive obliterative fibrosis of the bile ducts. | NCI2016_02D:A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure. MSH2017_2016_08_12:D015209|OMIM2016_04_17:613806|SNOMEDCT_US_2016_09_01:197441003|SNOMEDCT_US_2016_09_01:4032000 C1856052 Game friedman paradice syndrome Game Friedman Paradice syndrome | Growth delay with hydrocephalus and lung hypoplasia syndrome | Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS | Hydrocephalus with associated malformations SNOMEDCT_US_2016_09_01:A rare developmental disorder described in 4 siblings so far. Main characteristics include delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, shortness of lower limbs, bowed tibias and foot deformities. MSH2017_2016_08_12:C535406|OMIM2016_04_17:236640|SNOMEDCT_US_2016_09_01:716198008 C1848139 Cone-rod dystrophy, x-linked, 2 COD2 | CONE DYSTROPHY 2, X-LINKED | CONE-ROD DYSTROPHY, X-LINKED, 2 | CORDX2 | Cone Dystrophy, X-Linked, 2 | Cone-Rod Dystrophy, X-Linked, 2 MSH2017_2016_08_12:C564717|OMIM2016_04_17:300085 C0347766 Skull fracture depressed Depressed Skull Fracture | Depressed Skull Fractures | Depressed fracture of skull | Depressed fracture of skull (diagnosis) | Depressed fracture of skull (disorder) | Depressed skull fracture | Depressed skull fracture NOS | Fracture, Depressed Skull | Fractured skull depressed | Fractures, Depressed Skull | SKULL FRACTURE DEPRESSED | Skull Fracture, Depressed | Skull Fracture, Depressed [Disease/Finding] | Skull Fractures, Depressed | Skull fracture NOS (& [depressed]) | Skull fracture NOS (& [depressed]) (disorder) | depressed fracture skull | depressed skull fracture | fracture of skull depressed MSH2017_2016_08_12:A skull fracture characterized by inward depression of a fragment or section of cranial bone, often compressing the underlying dura mater and brain. Depressed cranial fractures which feature open skin wounds that communicate with skull fragments are referred to as compound depressed skull fractures. MSH2017_2016_08_12:D020204|SNOMEDCT_US_2016_09_01:207841007|SNOMEDCT_US_2016_09_01:95850008 C1167737 Small intestine cancer stage iii Small Intestine Cancer Stage III | Small intestine carcinoma stage III | Stage III Small Intestinal Cancer | Stage III Small Intestinal Cancer AJCC v7 | Stage III Small Intestine Carcinoma NCI2016_02D:Stage III includes: IIIA (Any T, N1, M0); IIIB (Any T, N2, M0); N1: Metastasis in 1-3 regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.) C0040425 Tonsillitis Inflammation of tonsil | Inflammation of tonsils | Inflammation;tonsils | TONSILLITIS | Throat infection - tonsillitis | Tonsillar inflammation | Tonsillitides | Tonsillitis | Tonsillitis (disorder) | Tonsillitis NOS | Tonsillitis [Disease/Finding] | Tonsillitis, NOS | inflammation of the tonsils | inflammation tonsils | inflammation; tonsil | tonsil inflammation | tonsil; inflammation | tonsillitis | tonsillitis (diagnosis) | tonsils inflammation HPO2016_07_04:An inflammation of the tonsils. [HPO:probinson] | MSH2017_2016_08_12:Inflammation of the tonsils, especially the PALATINE TONSILS but the ADENOIDS (pharyngeal tonsils) and lingual tonsils may also be involved. Tonsillitis usually is caused by bacterial infection. Tonsillitis may be acute, chronic, or recurrent. | NCI2016_02D:Inflammation of the tonsillar tissue. | NCI2016_NICHD_1602D:Inflammation of the tonsillar tissue. HPO2016_07_04:HP:0011110|MSH2017_2016_08_12:D014069|SNOMEDCT_US_2016_09_01:195665006|SNOMEDCT_US_2016_09_01:90176007 C0406699 Drug-induced hypermelanosis Drug-induced hypermelanosis | Drug-induced hypermelanosis (disorder) SNOMEDCT_US_2016_09_01:238998002 C0030500 Animal parasitic disease Animal Parasitic Disease | Animal Parasitic Diseases | Animal Parasitic Infection | Animal Parasitic Infections | Disease, Animal Parasitic | Diseases, Animal Parasitic | Infection, Animal Parasitic | Infections, Animal Parasitic | Parasitic Disease, Animal | Parasitic Diseases, Animal | Parasitic Diseases, Animal [Disease/Finding] | Parasitic Infection, Animal | Parasitic Infections, Animal MSH2017_2016_08_12:Animal diseases caused by PARASITES. MSH2017_2016_08_12:D010273 C1838391 Limb hypertonia Hypertonia of the limbs | Limb hypertonia HPO2016_07_04:HP:0002509|OMIM2016_04_17:MTHU001900|OMIM2016_04_17:MTHU039406 C1840319 Redundant neck skin Excess neck skin | Excess skin of the neck | Excess skin over the neck | Redundant neck skin | Redundant nuchal skin | Redundant skin folds of neck | Redundant skin over the neck | redundant nuchal skin | redundant nuchal skin (physical finding) HPO2016_07_04:Excess skin around the neck, often lying in horizontal folds. [pmid:19125436] HPO2016_07_04:HP:0005989|OMIM2016_04_17:MTHU004815|OMIM2016_04_17:MTHU013974|OMIM2016_04_17:MTHU017706|OMIM2016_04_17:MTHU020033|OMIM2016_04_17:MTHU048861 C1839512 Limited knee flexion Limited knee flexion HPO2016_07_04:HP:0006389|OMIM2016_04_17:MTHU007026 C0751208 Juvenile huntington disease Huntington Disease, Juvenile | Huntington Disease, Juvenile Onset | Huntington Disease, Juvenile-Onset | Juvenile Huntington Disease | Juvenile Onset Huntington Disease | Juvenile onset Huntington disease | Juvenile onset Huntington's disease | Juvenile onset Huntington's disease (disorder) | Juvenile-Onset Huntington Disease MSH2017_2016_08_12:D006816|SNOMEDCT_US_2016_09_01:230299004 C1861828 Cataract, zonular pulverulent 1 CAE1 | CATARACT 1, MULTIPLE TYPES | CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | CATARACT 1, ZONULAR PULVERULENT | CATARACT, DUFFY-LINKED | CATARACT, ZONULAR PULVERULENT, 1 | CTRCT1 | CZP | CZP1 | Cataract, Duffy-Linked | Cataract, Zonular Pulverulent 1 | Cataract, zonular pulverulent | Pulverulent Zonular Cataract MSH2017_2016_08_12:C566158|OMIM2016_04_17:116200|OMIM2016_04_17:600897|OMIM2016_04_17:MTHU042531 C0026598 Movement perception Motion Perception | Motion perception (Vision) | Movement Perception | Perception of movement | Perception of movement (function) | Perception of movement, function | Perception of movement, function (observable entity) | Perception, Motion | motion perception | movement perception CSP2006:sensory interpretation of the movement of objects or persons. | MSH2017_2016_08_12:The real or apparent movement of objects through the visual field. | MSHNOR2016:Det at objekter virkelig eller tilsynelatende beveger seg i synsfeltet. MSH2017_2016_08_12:D009039|SNOMEDCT_US_2016_09_01:66059008 C1855607 Keutel syndrome KEUTEL SYNDROME | KTLS | Keutel syndrome | PULMONIC STENOSIS, BRACHYTELEPHALANGISM, AND CALCIFICATION OF CARTILAGES | Pulmonic stenosis, brachytelephalangism, and calcification of cartilages MSH2017_2016_08_12:C536167|OMIM2016_04_17:154870|OMIM2016_04_17:245150 C1839785 Folate-dependent fragile site at xq28 Folate-dependent fragile site at Xq28 HPO2016_07_04:The presence of a folate sensitive fragile site at chromosome Xq28. [HPO:probinson] HPO2016_07_04:HP:0003564|OMIM2016_04_17:MTHU007283 C1552262 Nurse practitioner - family FNP | Family | Family Nurse Practitioner | Family Nurse Practitioners | Nurse Practitioner - Family | Nurse Practitioner, Family | Nurse Practitioners, Family | Physician Assistants & Advanced Practice Nursing Providers; Nurse Practitioner, Family | Physician Assistants & Advanced Practice Nursing Providers; Nurse Practitioner; Family MSH2017_2016_08_12:Registered nurses with graduate degrees in nursing who provide care to patients of all age levels, and who focus their efforts on the health care needs of the entire family. | NCI2016_02D:A registered nurse with specialized and advanced education in treating all age groups. The Family Nurse Practitioner can treat both pediatric and adult members of the family who suffer from acute or chronic illnesses, as well as address psychosocial issues that may be affecting the family. MSH2017_2016_08_12:D064703 C0854802 Recurrent chronic lymphoid leukemia CLL (chronic lymphocytic leukemia) in relapse | CLL, relapsed | Chronic Lymphocytic Leukemia Recurrent | Chronic lymphocytic leukaemia recurrent | Chronic lymphocytic leukemia recurrent | Chronic lymphoid leukemia, in relapse | Recurrent Chronic Lymphocytic Leukemia | Recurrent Chronic Lymphogenous Leukemia | Recurrent Chronic Lymphoid Leukemia | Relapsed Chronic Lymphocytic Leukemia | Relapsed Chronic Lymphogenous Leukemia | Relapsed Chronic Lymphoid Leukemia | chronic lymphocytic leukemia in relapse | chronic lymphocytic leukemia in relapse (diagnosis) | chronic lymphocytic leukemia, relapsed | leukemia, relapsed chronic lymphocytic | lymphocytic leukemia, relapsed chronic | relapsed CLL | relapsed chronic lymphocytic leukemia NCI2016_02D:The reemergence of chronic lymphocytic leukemia after a period of remission. ICD9CM_2014:204.12 C0268733 Acute nephritis Acute nephritic syndrome | Acute nephritic syndrome (disorder) | Acute nephritic syndrome [Ambiguous] | Acute nephritic syndrome, unspecified | Acute nephritis | Acute nephritis (disorder) | Acute nephritis, NOS | NEPHRITIC SYNDROME, ACUTE | NEPHRITIS ACUTE | Nephritis - acute | Nephritis acute | Nephritis specified as acute | acute nephritic syndrome | acute nephritic syndrome (diagnosis) | acute nephritis | acute nephritis (diagnosis) | acute; nephritic syndrome | acute; nephritis | nephritic; syndrome, acute | nephritis; acute | syndrome; nephritic, acute ICD10CM_2017:N00|SNOMEDCT_US_2016_09_01:155850003|SNOMEDCT_US_2016_09_01:197578003|SNOMEDCT_US_2016_09_01:197680004|SNOMEDCT_US_2016_09_01:236386005|SNOMEDCT_US_2016_09_01:266613008|SNOMEDCT_US_2016_09_01:61503006 C0221290 Chondromyxoid fibroma CMF - Chondromyxoid fibroma | Chondromyxoid Fibroma | Chondromyxoid fibroma | Chondromyxoid fibroma (morphologic abnormality) | FIBROMA, CHONDROMYXOID NCI2016_02D:An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain. SNOMEDCT_US_2016_09_01:39553005 C0280302 Squamous cell carcinoma of lip Lip SCC | Lip Squamous Cell Carcinoma | Lip squamous cell carcinoma | SCC - Squamous cell carcinoma of lip | SCC of Lip | SCC of the Lip | Squamous Cell Carcinoma of Lip | Squamous Cell Carcinoma of the Lip | Squamous cell carcinoma of lip | Squamous cell carcinoma of lip (disorder) | lip neoplasm malignant carcinoma squamous cell | squamous cell carcinoma of lip | squamous cell carcinoma of lip (diagnosis) NCI2016_02D:A squamous cell carcinoma that arises from the lip. It affects males more often than females and it usually involves the lower lip. Risk factors include UV exposure, alcohol consumption, smoking, and immunosuppression. SNOMEDCT_US_2016_09_01:255071008 C1304407 Cutaneous necrotizing vasculitis Necrotising cutaneous vasculitis | Necrotizing cutaneous vasculitis | Necrotizing cutaneous vasculitis (disorder) | cutaneous necrotizing vasculitis | necrotizing cutaneous vasculitis | vasculitis cutaneous necrotizing SNOMEDCT_US_2016_09_01:402655006 C3850156 Interoception Interoception MSH2017_2016_08_12:The perception of and sensitivity to stimuli originating inside of the body. It is a sense of the physiological condition of the entire body. MSH2017_2016_08_12:D065812 C1862394 Atrial fibrillation, familial, 4 ATFB4 | ATRIAL FIBRILLATION, FAMILIAL, 4 | Atrial Fibrillation, Familial, 4 | atrial fibrillation familial 4 | atrial fibrillation familial 4 (diagnosis) MSH2017_2016_08_12:C566244|OMIM2016_04_17:603796|OMIM2016_04_17:611493 C1848638 Usher syndrome, type ib (disorder) USH1B | USHER SYNDROME, TYPE IB | USHER SYNDROME, TYPE IB (disorder) | Usher Syndrome, Type Ib MSH2017_2016_08_12:C564755|OMIM2016_04_17:276900|OMIM2016_04_17:276903 C3714689 Obsessional personality OBSESSIONAL PERSONALITY | Obsessional personality | Obsessional personality disorder | Obsessional personality disorder (disorder) | obsessional personality | obsessive personality disorder | obsessive personality disorder (diagnosis) | obsessive; personality disorder SNOMEDCT_US_2016_09_01:473457009 C0039753 Infection by theileria, nos Infection by Theileria | Infection by Theileria (disorder) | Infection by Theileria, NOS | Infection caused by Theileria | Infection caused by Theileria (disorder) | Theileriases | Theileriasis | Theileriasis [Disease/Finding] | Theilerioses | Theileriosis MSH2017_2016_08_12:Infection of cattle, sheep, or goats with protozoa of the genus THEILERIA. This infection results in an acute or chronic febrile condition. MSH2017_2016_08_12:D013801|SNOMEDCT_US_2016_09_01:68771000 C3805877 Hyperpigmentation in sun-exposed areas Hyperpigmentation in sun-exposed areas | Hyperpigmentation of exposed areas | Increased pigmentation in sun-exposed areas HPO2016_07_04:HP:0005586|OMIM2016_04_17:MTHU009372|OMIM2016_04_17:MTHU041449 C1844813 Widely spaced teeth Generalized dental spacing | Generalized spacing of teeth | Multiple diastemata | Wide-spaced teeth | Widely spaced teeth | Widely-spaced teeth HPO2016_07_04:Increased spaces (diastemata) between most of the teeth in the same dental arch. [pmid:19125428] HPO2016_07_04:HP:0000687|OMIM2016_04_17:MTHU001954|OMIM2016_04_17:MTHU007941|OMIM2016_04_17:MTHU011792 C2930941 Carrington syndrome Carrington syndrome | Carrington's Disease | Carrington's pulmonary eosinophilia | Chronic eosinophilic pneumonia (CEP) | Chronic idiopathic eosinophilic pneumonia | Eosinophilic idiopathic chronic pneumopathy MSH2017_2016_08_12:C535590 C0393554 Amyotrophic lateral sclerosis with dementia Amyotrophic Lateral Sclerosis With Dementia | Amyotrophic lateral sclerosis with dementia | Amyotrophic lateral sclerosis with dementia (disorder) | Dementia With Amyotrophic Lateral Sclerosis MSH2017_2016_08_12:D000690|SNOMEDCT_US_2016_09_01:230258005 C0349574 Neoplasm of pericardium Neoplasm of Pericardium | Neoplasm of pericardium | Neoplasm of pericardium (disorder) | Neoplasm of the Pericardium | Neoplasm of uncertain behavior of pericardium | Neoplasm of uncertain behavior of pericardium (diagnosis) | Neoplasm of uncertain behavior of pericardium (disorder) | Neoplasm of uncertain behaviour of pericardium | Pericardial Neoplasm | Pericardial Tumor | Pericardial neoplasm | Tumor of Pericardium | Tumor of pericardium | Tumor of the Pericardium | Tumour of pericardium | cardiac neoplasm uncertain behavior of pericardium | neoplasm of pericardium | neoplasm of pericardium (diagnosis) | pericardial tumor | pericardial tumor (diagnosis) NCI2016_02D:A benign or malignant neoplasm that affects the pericardium. SNOMEDCT_US_2016_09_01:126734005|SNOMEDCT_US_2016_09_01:94997003 C0409818 Chronic infantile neurological, cutaneous, and articular syndrome CAPS3 | CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME | CINCA | CINCA - Chronic infantile neurological, cutaneous and articular syndrome | CINCA SYNDROME | CINCA Syndrome | CINCA syndrome | CINCA/NOMID | CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 | Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome | Chronic Infantile Neurological Cutaneous and Articular Syndrome | Chronic Infantile Neurological, Cutaneous, and Articular Syndrome | Chronic Neurologic Cutaneous and Articular Syndrome | Chronic Neurologic, Cutaneous, and Articular Syndrome | Chronic infantile neurological cutaneous and articular syndrome | Chronic infantile neurological, cutaneous and articular syndrome | Chronic infantile neurological, cutaneous and articular syndrome (disorder) | Chronic infantile neurological, cutaneous and articular syndrome [CINCA] | Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome | IOMID | IOMID Syndrome | IOMID Syndromes | Infantile Onset Multisystem Inflammatory Disease | MULTISYSTEM INFLAMMATORY DISEASE, NEONATAL-ONSET | Multisystem Inflammatory Disease, Neonatal Onset | Multisystem Inflammatory Disease, Neonatal-Onset | NOMID | NOMID - Neonatal onset multisystem inflammatory disease | Neonatal Onset Multisystem Inflammatory Disease | Neonatal onset multisystem inflammatory disease | Neonatal-Onset Multisystem Inflammatory Disease | Neonatal-onset multisystemic inflammatory disease | Prieur Griscelli Syndrome | Prieur-Griscelli Syndrome | Prieur-Griscelli Syndromes | Syndrome, IOMID | Syndrome, Prieur-Griscelli | Syndromes, IOMID | Syndromes, Prieur-Griscelli NCI2016_02D:A congenital autoinflammatory disorder that presents within a few days of birth and is characterized by a clinical triad of skin rash, chronic meningitis, and joint pain with recurrent fever and inflammation. | NCI2016_NICHD_1602D:An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It typically presents during infancy and is characterized by fever, urticarial skin rash, aseptic meningitis, and widened epiphyses. ICD10CM_2017:M04.2|MSH2017_2016_08_12:D056587|OMIM2016_04_17:606416|OMIM2016_04_17:607115|SNOMEDCT_US_2016_09_01:239826001 C1856136 Peg-shaped incisors Cone shaped front tooth | Conical incisor | Conoid incisor | Peg shaped incisors | Peg-shaped incisors | Shark tooth incisor HPO2016_07_04:An abnormal conical morphology of the incisor tooth. [HPO:ibailleulforestier] HPO2016_07_04:HP:0011065|OMIM2016_04_17:MTHU012474 C0040156 Thyrotoxicosis THYROTOXICOSIS | Thyrotoxicoses | Thyrotoxicosis | Thyrotoxicosis (disorder) | Thyrotoxicosis +/- goiter | Thyrotoxicosis +/- goitre | Thyrotoxicosis NOS | Thyrotoxicosis NOS (disorder) | Thyrotoxicosis [Ambiguous] | Thyrotoxicosis [Disease/Finding] | Thyrotoxicosis with or without goiter | Thyrotoxicosis with or without goiter (disorder) | Thyrotoxicosis with or without goitre | Thyrotoxicosis, NOS | Thyrotoxicosis, unspecified | thyroid; toxic | thyrotoxicosis | thyrotoxicosis (diagnosis) | thyrotoxicosis with or without goiter | toxic; thyroid MSH2017_2016_08_12:A hypermetabolic syndrome caused by excess THYROID HORMONES which may come from endogenous or exogenous sources. The endogenous source of hormone may be thyroid HYPERPLASIA; THYROID NEOPLASMS; or hormone-producing extrathyroidal tissue. Thyrotoxicosis is characterized by NERVOUSNESS; TACHYCARDIA; FATIGUE; WEIGHT LOSS; heat intolerance; and excessive SWEATING. | NCI2016_02D:A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis. | NCI2016_NICHD_1602D:A syndrome caused by excessive levels of thyroid hormone due to overproduction or excessive release of stored thyroid hormone. ICD10CM_2017:E05.9|ICD9CM_2014:242|MSH2017_2016_08_12:D013971|OMIM2016_04_17:275000|SNOMEDCT_US_2016_09_01:154655004|SNOMEDCT_US_2016_09_01:154659005|SNOMEDCT_US_2016_09_01:190239004|SNOMEDCT_US_2016_09_01:190267008|SNOMEDCT_US_2016_09_01:267373004|SNOMEDCT_US_2016_09_01:267464006|SNOMEDCT_US_2016_09_01:286909009|SNOMEDCT_US_2016_09_01:90739004 C0300934 Meningoencephalitis, primary amebic MENINGOENCEPHALITIS, PRIMARY AMEBIC | Meningoencephalitis caused by Naegleria fowleri | Primary amebic meningoencephalitis | Primary amoebic meningoencephalitis | primary amebic meningoencephalitis ICD10CM_2017:B60.2|MSH2017_2016_08_12:C535275|SNOMEDCT_US_2016_09_01:49649001 C3495002 Tonic seizures, non-intractable Tonic seizures, non-intractable | Tonic seizures, non-refractory | Tonic seizures, non-refractory (disorder) SNOMEDCT_US_2016_09_01:432281000124107 C3279793 Combined oxidative phosphorylation deficiency 8 CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 | COXPD8 OMIM2016_04_17:612035|OMIM2016_04_17:614096 C1274675 Acquired hippocratic nails Acquired Hippocratic nails | Acquired clubbing of nails | Clubbing of nails associated with systemic disorder | Clubbing of nails associated with systemic disorder (disorder) SNOMEDCT_US_2016_09_01:403299004 C3280758 Cataract 37 CATARACT 37 | CATARACT, CONGENITAL, CERULEAN TYPE, 5 | CCA5 | CTRCT37 OMIM2016_04_17:614422 C1266184 Atypical teratoid/rhabdoid tumor AT/RT | ATT/RHT | Atypical Teratoid/Rhabdoid Tumor | Atypical Teratoid/Rhabdoid Tumor (WHO Grade IV) | Atypical teratoid/rhabdoid tumor | Atypical teratoid/rhabdoid tumor (morphologic abnormality) | Atypical teratoid/rhabdoid tumour | CNS Rhabdoid Neoplasm | CNS Rhabdoid Tumor | Central Nervous System Rhabdoid Neoplasm | Central Nervous System Rhabdoid Tumor | Malignant Brain Rhabdoid Neoplasm | Malignant Brain Rhabdoid Tumor | Malignant Rhabdoid Neoplasm of Brain | Malignant Rhabdoid Neoplasm of the Brain | Malignant Rhabdoid Tumor of Brain | Malignant Rhabdoid Tumor of the Brain | Primary Malignant Brain Rhabdoid Neoplasm | Primary Malignant Brain Rhabdoid Tumor | Primary Malignant Rhabdoid Neoplasm of Brain | Primary Malignant Rhabdoid Neoplasm of the Brain | Primary Malignant Rhabdoid Tumor of Brain | Primary Malignant Rhabdoid Tumor of the Brain | Rhabdoid Neoplasm of CNS | Rhabdoid Neoplasm of Central Nervous System | Rhabdoid Neoplasm of the CNS | Rhabdoid Neoplasm of the Central Nervous System | Rhabdoid Tumor of CNS | Rhabdoid Tumor of Central Nervous System | Rhabdoid Tumor of the CNS | Rhabdoid Tumor of the Central Nervous System | atypical teratoid/rhabdoid tumor NCI2016_02D:An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. It may be associated with loss of chromosome 22. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia. | NCI2016_NCI-GLOSS_1602D:An aggressive cancer of the central nervous system, kidney, or liver that occurs in very young children. OMIM2016_04_17:609322|SNOMEDCT_US_2016_09_01:128792003 C1263786 Neoplasm of uterine adnexa Neoplasm of uterine adnexa | Neoplasm of uterine adnexa (disorder) SNOMEDCT_US_2016_09_01:126915004 C2673885 Renal hepatic pancreatic dysplasia dandy walker cyst GOLDSTON SYNDROME | Goldston syndrome | MECKEL SYNDROME, TYPE 7 | MKS7 | Meckel like syndrome | Meckel syndrome type 7 | Meckel syndrome type 7 (diagnosis) | Meckel-Like Syndrome | RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST | Renal hepatic pancreatic dysplasia Dandy Walker cyst | Renal-Hepatic-Pancreatic Dysplasia with Dandy-Walker Cyst MSH2017_2016_08_12:C537756|OMIM2016_04_17:267010|OMIM2016_04_17:608002 C2750449 Corneal dystrophy, fuchs endothelial, 5 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 5 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET | Corneal Dystrophy, Fuchs Endothelial, 5 | FCD3 LOCUS | FECD5 MSH2017_2016_08_12:C567676|OMIM2016_04_17:613269 C1852529 Corticosteroid-binding globulin deficiency CBG DEFICIENCY | CBG Deficiency | CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY | Corticosteroid-Binding Globulin Deficiency | TRANSCORTIN DEFICIENCY | Transcortin Deficiency MSH2017_2016_08_12:C565152|OMIM2016_04_17:122500|OMIM2016_04_17:611489 C1845029 Cerebellar ataxia, nonprogressive Cerebellar ataxia, nonprogressive | Nonprogressive cerebellar ataxia HPO2016_07_04:HP:0002470|OMIM2016_04_17:MTHU008110 C1836673 Branchiogenic-deafness syndrome BRANCHIOGENIC-DEAFNESS SYNDROME | Branchiogenic-Deafness Syndrome MSH2017_2016_08_12:C563780|OMIM2016_04_17:609166 C0349398 Paranoid delusion Delusion, paranoid | Paranoid delusion | Paranoid delusion (finding) | Paranoid delusions | delusion of persecution | delusions of persecution | paranoid delusion | paranoid delusions | paranoid delusions (physical finding) | persecutory delusion SNOMEDCT_US_2016_09_01:216004|SNOMEDCT_US_2016_09_01:225452001 C0553706 Serum phosphate elevated High blood phosphate levels | SERUM PHOSPHATE ELEVATED | Serum phosphate increased HPO2016_07_04:HP:0002905 C2106849 Pain due to genitourinary device, implant, or graft pain due to genitourinary device, implant, or graft | pain due to genitourinary device, implant, or graft (diagnosis) C0410264 Contracture of tendo achilles Achilles tendon contracture | Achilles tendon contractures | Achilles tendon shortening | Contracture of Achilles tendon | Contracture of tendo achilles | Contracture of tendo achilles (disorder) | Contractures of the Achilles tendon | Shortening of the Achilles tendon | Shortening of the achilles tendon | Tight Achilles tendon | Tight achilles tendon | achilles contracture tendon | achilles tendon contracture | achilles tendon; contracture | contracture of tendo achilles | contracture; achilles tendon | of achilles tendon contracture HPO2016_07_04:A contracture of the Achilles tendon. [HPO:probinson] HPO2016_07_04:HP:0001771|OMIM2016_04_17:MTHU001126|OMIM2016_04_17:MTHU003575|OMIM2016_04_17:MTHU013713|OMIM2016_04_17:MTHU021230|OMIM2016_04_17:MTHU042399|OMIM2016_04_17:MTHU042411|SNOMEDCT_US_2016_09_01:203076007|SNOMEDCT_US_2016_09_01:240016004 C0748289 Renal disease autosomal dominant RENAL DISEASE AUTOSOMAL DOMINANT C0079746 Immunoblastic large-cell lymphoma Dif non-H immunobl (dif) lympa | Diffuse Immunoblastic Lymphosarcoma | Diffuse Immunoblastic Lymphosarcomas | Diffuse non-Hodgkin lymphoma, immunoblastic | Diffuse non-Hodgkin's immunoblastic (diffuse) lymphoma | Diffuse non-Hodgkin's immunoblastic (diffuse) lymphoma (disorder) | Diffuse non-Hodgkin's lymphoma, immunoblastic | Diffuse non-Hodgkin's lymphoma, immunoblastic (clinical) | Diffuse non-Hodgkin's lymphoma, immunoblastic (diagnosis) | Diffuse non-Hodgkin's lymphoma, immunoblastic (disorder) | Immunoblastic (diffuse) non-Hodgkin's lymphoma | Immunoblastic Large Cell Lymphoma | Immunoblastic Large-Cell Lymphoma | Immunoblastic Large-Cell Lymphomas | Immunoblastic Lymphoma | Immunoblastic Lymphoma, Large-Cell | Immunoblastic Lymphomas, Large-Cell | Immunoblastic Lymphosarcoma, Diffuse | Immunoblastic Lymphosarcomas, Diffuse | Immunoblastic Sarcoma | Immunoblastic Sarcomas | Immunoblastic lymphoma | Immunoblastic lymphosarcoma | Immunoblastic malignant lymphoma - large cell | Immunoblastic sarcoma | Immunoblastic sarcoma [obs] | Immunoblastoma | Immunoblastomas | LYMPHOMA, IMMUNOBLASTIC, MALIGNANT | Large Cell Immunoblastic Lymphoma | Large-Cell Immunoblastic Lymphoma | Large-Cell Immunoblastic Lymphomas | Large-Cell Lymphoma, Immunoblastic | Large-Cell Lymphomas, Immunoblastic | Lymphoma, Immunoblastic Large-Cell | Lymphoma, Immunoblastic, Large Cell | Lymphoma, Immunoblastic, Large-Cell | Lymphoma, Large Cell, Immunoblastic | Lymphoma, Large-Cell Immunoblastic | Lymphoma, Large-Cell, Immunoblastic | Lymphoma, Large-Cell, Immunoblastic [Disease/Finding] | Lymphoma, immunoblastic, high grade | Lymphomas, Immunoblastic Large-Cell | Lymphomas, Large-Cell Immunoblastic | Lymphosarcoma, Diffuse Immunoblastic | Lymphosarcomas, Diffuse Immunoblastic | Malignant lymphoma - immunoblastic | Malignant lymphoma, immunoblastic | Malignant lymphoma, immunoblastic NOS | Malignant lymphoma, immunoblastic type | Malignant lymphoma, immunoblastic, NOS | Malignant lymphoma, large B-cell, diffuse, immunoblastic | Malignant lymphoma, large B-cell, diffuse, immunoblastic (morphologic abnormality) | Malignant lymphoma, large cell, immunoblastic | Plasmablastic lymphoma | Sarcoma, Immunoblastic | Sarcomas, Immunoblastic | [M]Malignant lymphoma, immunoblastic type | immunoblastic lymphoma | immunoblastic sarcoma | immunoblastic; lymphoma | immunoblastic; sarcoma | large cell immunoblastic lymphoma | large cell immunoblastic lymphoma (diagnosis) | lymphoma; immunoblastic | malignant neoplasm lymphoma diffuse non-hodgkin's, immunoblastic | plasmablastic lymphoma | sarcoma; immunoblastic MSH2017_2016_08_12:Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan. | NCI2016_02D:A diffuse large B-cell lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, a prominent nucleolus, and abundant cytoplasm. | NCI2016_CDISC_1602D:A malignant neoplasm composed of immunoblasts (large B cells). MSH2017_2016_08_12:D016400|SNOMEDCT_US_2016_09_01:109966003|SNOMEDCT_US_2016_09_01:188677004|SNOMEDCT_US_2016_09_01:78010001 C1512419 Hereditary melanoma Familial Cutaneous Melanoma | Familial Melanoma | Hereditary Cutaneous Melanoma | Hereditary Melanoma | Melanoma, Familial NCI2016_02D:A melanoma defined by the presence of multiple cases of cutaneous melanoma among blood-relatives on the same side of the family. It is caused by germline mutations in the CDKN2A or CDK4 genes. It is associated with an increased risk of pancreatic cancer in a subset of CDKN2A families (WHO, 2006). C0085311 Diffuse cutaneous leishmaniasis Cutaneous Leishmaniases, Diffuse | Cutaneous Leishmaniasis, Diffuse | Cutaneous leishmaniasis, diffuse | DCL - Diffuse cutaneous leishmaniasis | Diffuse Cutaneous Leishmaniases | Diffuse Cutaneous Leishmaniasis | Diffuse Old World cutaneous leishmaniasis | Diffuse cutaneous leishmaniasis | Diffuse cutaneous leishmaniasis (disorder) | Leishmaniases, Diffuse Cutaneous | Leishmaniasis, Diffuse Cutaneous | Leishmaniasis, Diffuse Cutaneous [Disease/Finding] | diffuse Ethiopian cutaneous leishmaniasis | diffuse Ethiopian cutaneous leishmaniasis (diagnosis) MSH2017_2016_08_12:A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement. MSH2017_2016_08_12:D016774|SNOMEDCT_US_2016_09_01:38573008 C0085220 Cerebral amyloid angiopathy Amyloid Angiopathy, Cerebral | Angiopathy, Cerebral Amyloid | Angiopathy, Congophilic | CAA - Cerebral amyloid angiopathy | Cerebral Amyloid Angiopathies | Cerebral Amyloid Angiopathy | Cerebral Amyloid Angiopathy [Disease/Finding] | Cerebral amyloid angiopathy | Cerebral amyloid angiopathy (disorder) | Congophilic Angiopathies | Congophilic Angiopathy | Congophilic angiopathy | angiopathy congophilic | cerebral amyloid angiopathy | cerebral amyloid angiopathy (diagnosis) | congophilic angiopathy HPO2016_07_04:Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system. [HPO:probinson, pmid:21519520] | MSH2017_2016_08_12:A heterogeneous group of sporadic or familial disorders characterized by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES. Clinical features include multiple, small lobar CEREBRAL HEMORRHAGE; cerebral ischemia (BRAIN ISCHEMIA); and CEREBRAL INFARCTION. Cerebral amyloid angiopathy is unrelated to generalized AMYLOIDOSIS. Amyloidogenic peptides in this condition are nearly always the same ones found in ALZHEIMER DISEASE. (from Kumar: Robbins and Cotran: Pathologic Basis of Disease, 7th ed., 2005) | NCI2016_02D:A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain. HPO2016_07_04:HP:0011970|ICD10CM_2017:I68.0|MSH2017_2016_08_12:D016657|OMIM2016_04_17:MTHU038754|SNOMEDCT_US_2016_09_01:195228000|SNOMEDCT_US_2016_09_01:230724001 C3553645 Myasthenic syndrome, congenital, 13 CMS13 | CMSTA2 | MYASTHENIC SYNDROME, CONGENITAL, 13 | MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 OMIM2016_04_17:191350|OMIM2016_04_17:614750 C0015328 Behavior, exploratory Behavior, Exploratory | Behaviors, Exploratory | Exploratory Behavior | Exploratory Behaviors | exploration behavior | exploration behaviour | exploratory behavior | exploratory behaviour CSP2006:tendency to explore or investigate a novel environment; considered a motivation not clearly distinguishable from curiosity. | GO2016_05_01:The specific behavior of an organism in response to a novel environment or stimulus. [GOC:BHF, GOC:pr, PMID:11682103, PMID:9767169] | MSH2017_2016_08_12:The tendency to explore or investigate a novel environment. It is considered a motivation not clearly distinguishable from curiosity. | PSY2004:Locomotor activity or perceptual processes involved in investigating and/or orienting oneself to an environment. MSH2017_2016_08_12:D005106 C2931604 Ring 6, chromosome Ring 6, Chromosome MSH2017_2016_08_12:C537763 C1332608 Astrocytoma of brain stem Astrocytoma of brain stem | Astrocytoma of brain stem (disorder) | Brain Stem Astrocytoma | Brainstem Astrocytoma NCI2016_02D:An astrocytoma that arises from the brain stem. SNOMEDCT_US_2016_09_01:107581000119103 C1336525 Squamous cell carcinoma of submandibular gland Squamous Cell Carcinoma of Submandibular Gland | Squamous Cell Carcinoma of the Submandibular Gland | Submandibular Gland Squamous Cell Carcinoma NCI2016_02D:An invasive squamous cell carcinoma that arises from the submandibular gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain. C1335460 Postsurgical stage iv hepatoblastoma Postsurgical Stage IV Hepatoblastoma NCI2016_02D:Distant metastases, regardless of the extent of liver involvement. (from PDQ 2004) C4024753 Abnormality of the retinal vasculature Abnormality of retina blood vessels | Abnormality of the retinal vasculature HPO2016_07_04:An arterial or venous retinal vascular anomaly. [HPO:probinson] HPO2016_07_04:HP:0008046 C1835130 Premature calcification of mitral annulus Premature calcification of mitral annulus HPO2016_07_04:Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus . MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual. [HPO:probinson] HPO2016_07_04:HP:0005136|OMIM2016_04_17:MTHU017275 C1328587 Panhypogammaglobulinemia PANHYPOGAMMAGLOBULINEMIA | Panhypogammaglobulinaemia | Panhypogammaglobulinemia | Panypogammaglobulinemia HPO2016_07_04:HP:0003139|OMIM2016_04_17:MTHU005468|OMIM2016_04_17:MTHU009495 C3887948 Human papillomavirus type 18 integration site 2 HPV18I2 | HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2 | PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2 OMIM2016_04_17:167960 C4028895 Influenza a h7 subtype with manifestations influenza A H7 subtype with manifestations | influenza A H7 subtype with manifestations (diagnosis) C1833699 Osteopoikilosis, isolated OSTEOPOIKILOSIS, ISOLATED | Osteopoikilosis, Isolated MSH2017_2016_08_12:C563484|OMIM2016_04_17:166700 C0422869 Complex part seizure with impairment of consciousness only Complex part seizure with impairment of consciousness only | Complex part seizure with impairment of consciousness only (disorder) | Complex part seizure with impairment of consciousness only (finding) | Complex partial seizure with impairment of consciousness only | Complex partial seizure with impairment of consciousness only (finding) SNOMEDCT_US_2016_09_01:246542004 C1836118 Left ventricular noncompaction 2 LEFT VENTRICULAR NONCOMPACTION 2 | LVNC2 OMIM2016_04_17:609470 C0003864 Arthritis ARTHRITIS | ARTHRITIS INFLAMMATORY | Arthritides | Arthritis | Arthritis (disorder) | Arthritis (finding) | Arthritis NOS | Arthritis [Disease/Finding] | Arthritis, NOS | Arthritis, inflammatory | Arthritis, unspecified | Arthritis, unspecified, site unspecified | Arthritis;inflammatory | INFLAMMATORY ARTHROPATHIES | Inflammation of joint NOS | Inflammatory arthritis | Inflammatory arthropathy | Inflammatory disorder of joint | Inflammatory disorder of joint (disorder) | JOINT INFLAMMATION | Joint inflamed | Joint inflammation | arthritide | arthritides | arthritis | arthritis (diagnosis) | inflammatory arthritis | joint inflammation CSP2006:inflammation of the joints; tends to be chronic. | HPO2016_07_04:Inflammation of a joint. [HPO:probinson] | MEDLINEPLUS_20151021:If you feel pain and stiffness in your body or have trouble moving around, you might have arthritis. Most kinds of arthritis cause pain and swelling in your joints. Joints are places where two bones meet, such as your elbow or knee. Over time, a swollen joint can become severely damaged. Some kinds of arthritis can also cause problems in your organs, such as your eyes or skin.
Types of arthritis include
Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting.
If you have a bone marrow disease, there are problems with the stem cells or how they develop. Leukemia is a cancer in which the bone marrow produces abnormal white blood cells. With aplastic anemia, the bone marrow doesn't make red blood cells. Other diseases, such as lymphoma, can spread into the bone marrow and affect the production of blood cells. Other causes of bone marrow disorders include your genetic makeup and environmental factors.
Symptoms of bone marrow diseases vary. Treatments depend on the disorder and how severe it is. They might involve medicines, blood transfusions or a bone marrow transplant.
| MSH2017_2016_08_12:Diseases involving the BONE MARROW. HPO2016_07_04:HP:0005561|MSH2017_2016_08_12:D001855|SNOMEDCT_US_2016_09_01:127035006 C1281944 Endometriosis of uterosacral ligament Endometriosis of uterosacral ligament | Endometriosis of uterosacral ligament (disorder) SNOMEDCT_US_2016_09_01:314049009 C0679005 Interpersonal skills Abilities, Social | Ability, Social | Interpersonal Skill | Interpersonal Skills | Skill, Interpersonal | Skill, Social | Skills, Interpersonal | Skills, Social | Social Abilities | Social Ability | Social Skill | Social Skills | Social skills | interpersonal skills | social competence | social skill | social skills MSH2017_2016_08_12:The personal set of abilities required to successfully interact and communicate with others, both verbally and non-verbally through gestures, body language and personal appearance. MSH2017_2016_08_12:D066107 C0702221 Tactual discrimination Sensation, touch | Sense of Touch | Sense of touch | Sense, Tactile | Senses, Tactile | Tactile Sense | Tactile Senses | Tactile sensation | Tactile sense | Taction | Tactions | Tactual Discrimination | Tactual Perception | Touch | Touch Sense | Touch Senses | Touch sensation | Touch sensation (function) | Touch sensation, function | Touch sensation, function (observable entity) | perception of touch | sensation tactile | sensation touch | sensation touching | sense of touch | sense touch | senses touch | sensory perception of touch | tactile sensation | tactile sense | taction | tactition | tactual discrimination | tactual perception | touch | touch sensation | touch sense CSP2006:group of senses by which contact with objects gives evidence as to certain of their qualities, as registered by mechanoreceptors in the skin and mucous membranes. | GO2016_05_01:The series of events required for an organism to receive a touch stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. The perception of touch in animals is mediated by mechanoreceptors in the skin and mucous membranes and is the sense by which contact with objects gives evidence as to certain of their qualities. Different types of touch can be perceived (for example, light, coarse, pressure and tickling) and the stimulus may be external or internal (e.g. the feeling of a full stomach). [GOC:ai] | MSH2017_2016_08_12:Sensation of making physical contact with objects, animate or inanimate. Tactile stimuli are detected by MECHANORECEPTORS in the skin and mucous membranes. | NCI2016_02D:The faculty of touch, the sensation produced by pressure receptors in the skin. | PSY2004:Awareness of the qualities or characteristics of objects, substances, or surfaces by means of touch. MSH2017_2016_08_12:D014110|SNOMEDCT_US_2016_09_01:397624008|SNOMEDCT_US_2016_09_01:70761002 C1836202 Mental retardation, keratoconus, febrile seizures, and sinoatrial block MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIAL BLOCK | Mental retardation, keratoconus, febrile seizures, and sinoatrial block MSH2017_2016_08_12:C537452|OMIM2016_04_17:609438 C2931197 Waaler aarskog syndrome Waaler Aarskog syndrome MSH2017_2016_08_12:C536461 C1832903 Migraine, sporadic hemiplegic MIGRAINE, SPORADIC HEMIPLEGIC | Migraine, Sporadic Hemiplegic | Sporadic Hemiplegic Migraine NCI2016_02D:A migraine disorder characterized by an aura that includes motor weakness and the absence of family history. | NCI2016_NICHD_1602D:A migraine disorder characterized by an aura that includes motor weakness and the absence of family history. MSH2017_2016_08_12:C563405|OMIM2016_04_17:141500|OMIM2016_04_17:601011 C2931141 Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency LEIGH NECROTIZING ENCEPHALOPATHY DUE TO PYRUVATE CARBOXYLASE DEFICIENCY | LEIGH SYNDROME DUE TO PYRUVATE CARBOXYLASE DEFICIENCY | Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency | Leigh syndrome due to pyruvate carboxylase deficiency MSH2017_2016_08_12:C536255|OMIM2016_04_17:266150 C1962976 Ventricular fibrillation adverse event Ventricular Fibrillation Adverse Event | Ventricular fibrillation C1851573 Transient bullous dermolysis of the newborn DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL | Dystrophic Epidermolysis Bullosa, Dominant Neonatal | EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM | Epidermolysis bullosa dystrophica, dominant neonatal form | TBDN | TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN | Transient bullous dermolysis of the newborn MSH2017_2016_08_12:C536979|OMIM2016_04_17:120120|OMIM2016_04_17:131705 C1704374 Carcinoma of endocrine gland Cancer of Endocrine Gland | Cancer of the Endocrine Gland | Cancer, Endocrine | Cancer, Endocrine Gland | Cancers, Endocrine | Carcinoma of Endocrine Gland | Carcinoma, Endocrine Gland | Endocrine Cancer | Endocrine Cancers | Endocrine Gland Cancer | Endocrine Gland Carcinoma | Endocrine glands--Cancer MSH2017_2016_08_12:D004701 C2129388 Bilateral axillary swelling bilateral axillary swelling | bilateral axillary swelling (symptom) | swelling in both armpits | swelling in both axillae C1862372 Atypical osteomalacia involving the axial skeleton AXIAL OSTEOMALACIA | Atypical osteomalacia involving the axial skeleton | Axial osteomalacia MSH2017_2016_08_12:C537791|OMIM2016_04_17:109130 C0280746 Sarcoma of ovary Ovarian Sarcoma | Ovarian sarcoma | Sarcoma of Ovary | Sarcoma of ovary | Sarcoma of ovary (disorder) | Sarcoma of the Ovary | ovarian sarcoma | ovarian sarcomas | sarcoma of ovary | sarcoma of ovary (diagnosis) | sarcoma of the ovary | sarcoma, ovarian NCI2016_02D:A rare, aggressive malignant soft tissue neoplasm that arises from the ovary. The prognosis is poor. SNOMEDCT_US_2016_09_01:423627007 C1507149 Partial chromosome y deletion Partial chromosome Y deletion | Partial chromosome Y deletion (disorder) | Partial deletion of Y | Partial deletion of chromosome Y | Y chromosome deletion | Y chromosome deletions | Y chromosome microdeletions | Y-chromosome microdeletions SNOMEDCT_US_2016_09_01:A severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. The mode of transmission follows a Y-linked pattern, with incomplete penetrance, but as deletions are often associated with infertility, they generally occur de novo. Molecular diagnosis is made by PCR amplification of STS type sequences (sequence-tagged sites) from the AZFa, b, and c regions. All chromosome Y deletions do not necessarily lead to infertility: firstly, some deletions (especially some partial deletions) do not result in spermatogenesis defects; secondly, among men with severe oligospermia, some can father children without infertility treatment. Finally, when mature spermatozoa are found in the sperm or in the testicles, the infertility problem can be solved with medically assisted procreation techniques. However, there is a risk of transmitting the microdeletion to every male infant. MSH2017_2016_08_12:C536297|SNOMEDCT_US_2016_09_01:717158001 C0270263 Neonatorum; urticaria Urticaria neonatorum | Urticaria neonatorum (disorder) | neonatal urticaria | neonatal urticaria (diagnosis) | neonatorum; urticaria | urticaria; neonatorum ICD10CM_2017:P83.8|SNOMEDCT_US_2016_09_01:4244005 C1838121 Acrocardiofacial syndrome ACFS | ACROCARDIOFACIAL SYNDROME | Acrocardiofacial Syndrome | CCGE | CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY | Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly MSH2017_2016_08_12:C563936|OMIM2016_04_17:600460 C1257843 Pseudomembranous colitis COLITIS PSEUDOMEMBRANOUS | Colitis - pseudomembranous | Colitis pseudomembranous | Colitis, Pseudomembranous | Colitis: [toxic] or [pseudomembranous] | Colitis: [toxic] or [pseudomembranous] (disorder) | Colitis;psuedomemb;C.difficile | PMC - Pseudomembranous colitis | PSEUDOMEMBRANOUS COLITIS | Pseudomembraneous colitis | Pseudomembranous Colitis | Pseudomembranous colitis | Pseudomembranous colitis (disorder) | colitis pseudomembranous | pseudomembranous colitis | pseudomembranous colitis (diagnosis) ICD10CM_2017:A04.7|MSH2017_2016_08_12:D004761|SNOMEDCT_US_2016_09_01:155783000|SNOMEDCT_US_2016_09_01:197019008|SNOMEDCT_US_2016_09_01:197033008|SNOMEDCT_US_2016_09_01:197124009|SNOMEDCT_US_2016_09_01:235752008|SNOMEDCT_US_2016_09_01:266525002|SNOMEDCT_US_2016_09_01:397683000|SNOMEDCT_US_2016_09_01:51180003 C0205697 Carcinoma, spindle-cell CARCINOMA, SPINDLE CELL, MALIGNANT | Carcinoma, Spindle Cell | Carcinoma, Spindle-Cell | Carcinomas, Spindle-Cell | Polypoid squamous cell carcinoma | Pseudosarcomatous Carcinoma | Pseudosarcomatous carcinoma | Pseudosarcomatous carcinoma (morphologic abnormality) | Sarcomatoid Carcinoma | Sarcomatoid carcinoma | Spindle Cell Carcinoma | Spindle cell carcinoma | Spindle cell carcinoma (morphologic abnormality) | Spindle-Cell Carcinoma | Spindle-Cell Carcinomas | pseudosarcomatous carcinoma | pseudosarcomatous carcinoma (diagnosis) | sarcomatoid carcinoma | spindle cell carcinoma | spindle cell carcinoma (diagnosis) | spindle-cell carcinoma NCI2016_02D:A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present. | NCI2016_CDISC_1602D:A malignant epithelial neoplasm characterized by the presence of spindle cells. | NCI2016_NCI-GLOSS_1602D:A type of cancer that begins in the skin or in tissues that line or cover internal organs and that contains long spindle-shaped cells. MSH2017_2016_08_12:D002277|SNOMEDCT_US_2016_09_01:23109009|SNOMEDCT_US_2016_09_01:65692009 C4072835 Kinky hair texture Kinky hair texture HPO2016_07_04:HP:0002224 C0206680 Mesothelioma, cystic Cystic Mesothelioma | Cystic Mesotheliomas | Cystic mesothelioma | Cystic mesothelioma (disorder) | Cystic mesothelioma (morphologic abnormality) | Intermediate Mesothelioma | Mesothelioma, Cystic | Mesothelioma, Cystic [Disease/Finding] | Mesotheliomas, Cystic | Multicystic Mesothelioma | [M] Cystic mesothelioma | [M]Cystic mesothelioma | cystic; mesothelioma | mesothelioma; cystic MSH2017_2016_08_12:A peritoneal mesothelioma affecting mainly young females and producing cysts of variable size and number lined by a single layer of benign mesothelial cells. The disease follows a benign course and is compatible with a normal life expectancy, requiring occasionally partial excision or decompression for relief of pain or other symptoms. Malignant potential is exceptional. (From Holland et al., Cancer Medicine, 3d ed, p1345) | NCI2016_02D:An intermediate grade neoplasm arising from mesothelial cells. It occurs in the peritoneum, extraperitoneal space, omentum, or pelvic or abdominal viscera. It is characterized by the presence of multiple cysts lined by flattened or cuboidal mesothelial cells. There is no evidence of significant cytologic atypia or increased mitotic activity. It usually occurs in young to middle-aged women. Patients present with abdominal or pelvic mass and pain. Approximately half of the cases recur. The recurrences may appear several years after the initial diagnosis. Rare cases of transformation to malignant mesothelioma have also been described. MSH2017_2016_08_12:D018261|SNOMEDCT_US_2016_09_01:189836009|SNOMEDCT_US_2016_09_01:86562005 C1860334 Lisch nodules Iris hamartomas | Lisch nodules HPO2016_07_04:The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. [HPO:probinson] HPO2016_07_04:HP:0009737|OMIM2016_04_17:MTHU014987 C1332578 Haemangioma of bone Angioma of Bone | Angioma of the Bone | Bone Angioma | Bone Hemangioma | Haemangioma of bone | Hemangioma of Bone | Hemangioma of bone | Hemangioma of the Bone | Osseous Angioma | Osseous Hemangioma | hemangioma of bone | hemangioma of bone (diagnosis) NCI2016_02D:A hemangioma arising in the bone. C1827052 Migraine with aura, intractable Classical migraine, intractable | Intractable classical migraine | Intractable migraine with aura | Migraine with aura, intractable | Refractory migraine with aura | Refractory migraine with aura (disorder) ICD10CM_2017:G43.11|SNOMEDCT_US_2016_09_01:423683008 C1257960 Mannosidase deficiency diseases Deficiency Disease, Mannosidase | Deficiency Diseases, Mannosidase | Deficiency Syndrome, Mannosidase | Deficiency Syndromes, Mannosidase | Diseases, Mannosidase Deficiency | Mannosidase Deficiency Disease | Mannosidase Deficiency Diseases | Mannosidase Deficiency Diseases [Disease/Finding] | Mannosidase Deficiency Syndrome | Mannosidase Deficiency Syndromes | Mannosidoses | Mannosidosis | Mannosidosis (disorder) | Mannosidosis, NOS | mannosidase deficiency | mannosidosis | mannosidosis (diagnosis) CSP2006:lysosomal storage disease due to defective alpha-mannosidase with resultant oligosaccharide accumulation. | MSH2017_2016_08_12:Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme. | NCI2016_02D:A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clincal signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections. ICD10CM_2017:E77.1|MSH2017_2016_08_12:D044904|SNOMEDCT_US_2016_09_01:190937009|SNOMEDCT_US_2016_09_01:65524005 C0474991 Edema of cervical cord Edema of cervical cord | Edema of cervical cord (disorder) | Oedema of cervical cord SNOMEDCT_US_2016_09_01:262701006 C4024623 Wide proximal femoral metaphysis Wide metaphysis of innermost thighbone | Wide proximal femoral metaphysis HPO2016_07_04:Increased width of the proximal part of the shaft (metaphysis) of the femur. [HPO:probinson] HPO2016_07_04:HP:0008783 C0342162 Compensated hypothyroidism Compensated Hypothyroidism | Compensated hypothyroidism | Compensated hypothyroidism (disorder) HPO2016_07_04:HP:0008223|OMIM2016_04_17:MTHU025717|SNOMEDCT_US_2016_09_01:237523006 C0221356 Brachycephaly BRACHYCEPHALY | Brachycephaly | Brachycephaly (disorder) | Short anteroposterior diameter of skull | Short broad skull | Wide skull | brachycephaly HPO2016_07_04:An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. [HPO:probinson, pmid:19125436] | MSH2017_2016_08_12:Premature closing of both sides of the coronal sutures. HPO2016_07_04:HP:0000248|MSH2017_2016_08_12:D003398|OMIM2016_04_17:MTHU000088|SNOMEDCT_US_2016_09_01:13649004 C1850415 Microvesicular steatosis (disorder) Microvesicular Steatosis | Microvesicular hepatic steatosis | Microvesicular steatosis | Microvesicular steatosis (disorder) | Microvesicular steatosis (morphologic abnormality) HPO2016_07_04:A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes. [HPO:probinson] | NCI2016_02D:A morphologic finding indicating intracytoplasmic fat accumulation in the liver parenchyma. Unlike macrovesicular steatosis, the fat accumulation occurs around the nucleus of the hepatocytes, without displacing it. HPO2016_07_04:HP:0001414|OMIM2016_04_17:MTHU010574|OMIM2016_04_17:MTHU022028 C0041207 Truncus arteriosus, persistent Absent septum between aorta and pulmonary artery | CAT - Common arterial trunk | Common Truncus Arteriosus | Common aorto-pulmonary trunk | Common aortopulmon trunk NOS | Common aortopulmonary trunk | Common aortopulmonary trunk NOS | Common aortopulmonary trunk NOS (disorder) | Common arterial trunk | Common arterial trunk (truncus arteriosus) | Common truncus | Common truncus arteriosus | Common truncus arteriosus (disorder) | PERSISTENT TRUNCUS ARTERIOSUS | PTA | Persistent Truncus Arteriosus | Persistent truncus arteriosus | Persistent truncus arteriosus (disorder) | TA - Truncus arteriosus | TRUNCUS ARTERIOSUS, PERSISTENT | Truncus Arteriosus | Truncus Arteriosus, Persistent | Truncus Arteriosus, Persistent [Disease/Finding] | Truncus arteriosus | Truncus arteriosus communis | Truncus arteriosus persistent | Truncus arteriosus, Persistent | arteriosus; truncus | artery; common trunk | common arterial trunk (diagnosis) | common truncus arteriosis | common truncus arteriosis (diagnosis) | common; arterial trunk | common; truncus | truncus; arteriosus | truncus; common MSH2017_2016_08_12:A congenital anomaly caused by the failed development of TRUNCUS ARTERIOSUS into separate AORTA and PULMONARY ARTERY. It is characterized by a single arterial trunk that forms the outlet for both HEART VENTRICLES and gives rise to the systemic, pulmonary, and coronary arteries. It is always accompanied by a ventricular septal defect. | NCI2016_02D:A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death. ICD10CM_2017:Q20.0|ICD9CM_2014:745.0|MSH2017_2016_08_12:D014339|OMIM2016_04_17:217095|OMIM2016_04_17:601656|OMIM2016_04_17:611770|SNOMEDCT_US_2016_09_01:204291007|SNOMEDCT_US_2016_09_01:204292000|SNOMEDCT_US_2016_09_01:204294004|SNOMEDCT_US_2016_09_01:394525006|SNOMEDCT_US_2016_09_01:61959006 C3540850 Cataract 4, multiple types CATARACT 4, MULTIPLE TYPES | CATARACT 4, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | CTRCT4 OMIM2016_04_17:115700|OMIM2016_04_17:123690 C0264988 Periarteritis Periarterial inflammation | Periarteritis | Periarteritis (disorder) | Periarteritis, NOS | periarteritis SNOMEDCT_US_2016_09_01:76805007 C0206644 Histiocytoma, benign fibrous Benign Fibrous Histiocytoma | Benign Fibrous Histiocytomas | Benign fibrous histiocytoma | Benign fibrous histiocytoma (morphologic abnormality) | FIBROUS HISTIOCYTOMA | FIBROXANTHOMA | Fibrous Histiocytoma | Fibrous Histiocytoma, Benign | Fibrous Histiocytomas | Fibrous Histiocytomas, Benign | Fibrous histiocytoma | Fibrous histiocytoma NOS | Fibrous histiocytoma, NOS | Fibrous histiocytoma, no ICD subtype (morphologic abnormality) | Fibroxanthoma | Fibroxanthoma NOS | Fibroxanthoma, NOS | HISTIOCYTOMA, FIBROUS, BENIGN | Histiocytoma, Benign Fibrous | Histiocytoma, Benign Fibrous [Disease/Finding] | Histiocytoma, Fibrous | Histiocytomas, Benign Fibrous | Histiocytomas, Fibrous | Xanthofibroma | [M]Fibrous histiocytoma NOS | [M]Fibrous histiocytoma NOS (morphologic abnormality) | [M]Fibroxanthoma NOS | [M]Fibroxanthoma NOS (morphologic abnormality) | [M]Xanthofibroma | benign fibrous histiocytoma | fibrous histiocytoma | fibrous histiocytomas | fibroxanthoma | xanthofibroma MSH2017_2016_08_12:A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747) | NCI2016_02D:A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage. | NCI2016_CDISC_1602D:A benign neoplasm composed of a fibroblastic and a histiocytic component. MSH2017_2016_08_12:D018219|SNOMEDCT_US_2016_09_01:189769003|SNOMEDCT_US_2016_09_01:189770002|SNOMEDCT_US_2016_09_01:25889007 C1864199 Deafness, autosomal recessive 13 DEAFNESS, AUTOSOMAL RECESSIVE 13 | DFNB13 | Deafness, Autosomal Recessive 13 MSH2017_2016_08_12:C566410|OMIM2016_04_17:603098 C3648852 Human herpesvirus encephalitis human herpesvirus encephalitis | human herpesvirus encephalitis (diagnosis) C1865371 Severe combined immunodeficiency, athabaskan-type SCIDA | SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN-TYPE | SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE | Severe combined immunodeficiency Athabascan type | Severe combined immunodeficiency due to DCLRE1C deficiency | Severe combined immunodeficiency due to artemis deficiency | Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency | Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder) SNOMEDCT_US_2016_09_01:A type of severe combined immunodeficiency disease characterised by severe and recurrent infections, diarrhoea, failure to thrive, and cell sensitivity to ionising radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive. | SNOMEDCT_US_2016_09_01:A type of severe combined immunodeficiency disease characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive. OMIM2016_04_17:602450|OMIM2016_04_17:605988|SNOMEDCT_US_2016_09_01:715982006 C1843895 Deafness, autosomal dominant 44 DEAFNESS, AUTOSOMAL DOMINANT 44 | DFNA44 | Deafness, Autosomal Dominant 44 MSH2017_2016_08_12:C564399|OMIM2016_04_17:607453 C0020039 Hostility HOSTILITY | Hostile behavior | Hostile behavior (finding) | Hostile behaviour | Hostilities | Hostility | [D]Hostility | [D]Hostility (context-dependent category) | [D]Hostility (situation) | attitude hostile | hostile | hostile (physical finding) | hostilities | hostility | hostility (symptom) MSH2017_2016_08_12:Tendency to feel anger toward and to seek to inflict harm upon a person or group. ICD10CM_2017:R45.5|MSH2017_2016_08_12:D006791|OMIM2016_04_17:MTHU038029|SNOMEDCT_US_2016_09_01:206793008|SNOMEDCT_US_2016_09_01:79351003 C4021750 Abnormality of the femur Abnormality of the femora | Abnormality of the femur | Abnormality of the thighbone HPO2016_07_04:Abnormality of the femur. [HPO:probinson] HPO2016_07_04:HP:0002823 C0334142 Ischaemic contracture Ischaemic contracture | Ischemic contracture | Ischemic contracture (morphologic abnormality) | ischaemic contracture | ischemic contracture SNOMEDCT_US_2016_09_01:62940006 C1855175 Metaphyseal dysostosis, mental retardation, and conductive deafness METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS | Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness MSH2017_2016_08_12:C565396|OMIM2016_04_17:250420 C3280154 Mental retardation, autosomal recessive 16 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16 | MRT16 OMIM2016_04_17:614208 C0155194 Mechanical ectropion Mechanical ectropion | Mechanical ectropion (disorder) | mechanical ectropion | mechanical ectropion (diagnosis) ICD9CM_2014:374.12|SNOMEDCT_US_2016_09_01:45020000 C3489732 Mesangial sclerosis, familial Familial mesangial sclerosis | Familial mesangial sclerosis (disorder) | Mesangial Sclerosis, Familial | familial mesangial sclerosis (diagnosis) | nephrotic syndrome congenital type 3 | nephrotic syndrome congenital type 3 (diagnosis) MSH2017_2016_08_12:C537346|SNOMEDCT_US_2016_09_01:236383002 C0152207 Exotropia, alternating Alternating Exotropia | Alternating exotropia | Alternating exotropia (disorder) | Alternating exotropia, NOS | Exotropia, Alternating | Exotropia, alternating | alternating exotropia | alternating exotropia (diagnosis) ICD10CM_2017:H50.15|ICD9CM_2014:378.15|MSH2017_2016_08_12:D005099|SNOMEDCT_US_2016_09_01:194093000|SNOMEDCT_US_2016_09_01:37214009 C0242310 Igm heavy chain disease Heavy chain disease, IgM type | IGM HEAVY CHAIN DISEASE | IgM heavy chain disease | MU CHAIN DISEASE | MU HCD | MU HEAVY CHAIN DISEASE | MU HEAVY-CHAIN DISEASE | Mu Heavy Chain Disease | Mu heavy chain disease | Mu heavy chain disease (diagnosis) | Mu heavy chain disease (disorder) | heavy chain disease mu | mu Chain Disease | mu-Chain Disease | mu-Chain Diseases NCI2016_02D:A clonal disorder characterized by the secretion of a mu heavy chain that lacks a variable region. Most patients present with slowly progressive chronic lymphocytic leukemia (CLL). In contrast to most cases of CLL, Mu heavy chain disease is associated with hepatosplenomegaly and absence of lymphadenopathy. --2004 ICD10CM_2017:C88.2|MSH2017_2016_08_12:D006362|SNOMEDCT_US_2016_09_01:61493004|SNOMEDCT_US_2016_09_01:6381009 C0856904 Allergy to fish Allergy to fish | Allergy to fish (disorder) | Fish allergy | allergies fish | allergy fish | allergy to fish | allergy to fish (history) | fish allergy SNOMEDCT_US_2016_09_01:417532002 C1336015 Smoldering adult t-cell leukemia/lymphoma Smoldering Adult T-Cell Leukemia/Lymphoma | Smoldering Adult T-Cell Lymphoma/Leukemia NCI2016_02D:An adult T-cell leukemia/lymphoma characterized by less than 5% neoplastic lymphocytes in the peripheral blood, absence of lymphadenopathy and hypercalcemia, and occasional skin or pulmonary lesions. -- 2004 C1290857 Disorder of face Disease of face | Disease of face (disorder) | Disorder of face | Disorder of face (disorder) | Disorder of the face | disease faces | disease of face | diseases face | disorder of face (diagnosis) | face disease HPO2016_07_04:HP:0000271|SNOMEDCT_US_2016_09_01:118930001 C0700594 Radiculopathy RADICULOPATHY | Radicular Syndrome | Radicular syndrome | Radiculopathies | Radiculopathy | Radiculopathy (disorder) | Radiculopathy NOS | Radiculopathy [Disease/Finding] | Radiculopathy, NOS | Radiculopathy, site unspecified | Spinal nerve root disorder NOS | neuropathy; radicular | radicular syndrome | radicular; neuropathic | radicular; syndrome | radiculopathies | radiculopathy | radiculopathy (diagnosis) | syndrome; radicular CHV2011_02:disease of the spinal nerve root | MSH2017_2016_08_12:Disease involving a spinal nerve root (see SPINAL NERVE ROOTS) which may result from compression related to INTERVERTEBRAL DISK DISPLACEMENT; SPINAL CORD INJURIES; SPINAL DISEASES; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root. ICD10CM_2017:M54.1|ICD10CM_2017:M54.10|MSH2017_2016_08_12:D011843|SNOMEDCT_US_2016_09_01:394640000|SNOMEDCT_US_2016_09_01:72274001 C0271097 Usher syndrome Deafness Retinitis Pigmentosa Syndrome | Deafness-Retinitis Pigmentosa Syndrome | Deafness-Retinitis Pigmentosa Syndromes | Deafness-retinitis pigmentosa syndrome | Dystrophia Retinae Pigmentosa Dysostosis Syndrome | Dystrophia Retinae Pigmentosa-Dysostosis Syndrome | Graefe Usher Syndrome | Graefe-Usher Syndrome | Graefe-Usher syndrome | Hallgren Syndrome | Hallgren syndrome | Hallgren's syndrome | Pigmentosa Syndromes, Deafness-Retinitis | RETINITIS PIGMENTOSA 21, FORMERLY | RETINITIS PIGMENTOSA 8, FORMERLY | RETINITIS PIGMENTOSA-DEAFNESS SYNDROME | RP21, FORMERLY | RP8, FORMERLY | Retinitis Pigmentosa Deafness Syndrome | Retinitis Pigmentosa-Deafness Syndrome | Retinitis Pigmentosa-Deafness Syndromes | Retinitis pigmentosa-deafness syndrome | Retinitis pigmentosa-deafness syndrome (disorder) | Retinitis pigmentosa-deafness-ataxia syndrome | Retinitis pigmentosa-deafness-ataxia syndrome (disorder) | Syndrome, Deafness-Retinitis Pigmentosa | Syndrome, Graefe-Usher | Syndrome, Hallgren | Syndrome, Retinitis Pigmentosa-Deafness | Syndrome, Usher | Syndrome, Usher's | Syndromes, Deafness-Retinitis Pigmentosa | Syndromes, Retinitis Pigmentosa-Deafness | Syndromes, Usher | Usher Syndrome | Usher Syndromes | Usher Syndromes [Disease/Finding] | Usher syndrome | Usher syndrome (US) | Usher's Syndrome | Usher's syndrome | Ushers Syndrome | dystrophia retinae pigmentosa-dysostosis syndrome | dystrophia retinae pigmentosa-dysostosis syndrome (DRD) | dystrophia retinae-dysacousis syndrome | hallgren syndrome | retinitis pigmentosa-congenital deafness syndrome | syndrome usher | syndrome usher's | syndrome ushers | syndromes usher | usher syndrome | usher syndrome (diagnosis) | usher's syndrome CSP2006:hereditary disorder believed to occur in two forms: (1) characterized by congenital deafness and severe retinitis pigmentosa, and (2) in which the inner ear and retina are less severely affected; most cases are transmitted as autosomal recessive trait, but some forms are X-linked. | JABL99:A hereditary disorder characterized by deaf-mutism, retinitis pigmentosa, and occasional mental retardation. Early cases were reported mainly in Jews in Germany but later observations came from Finland, Norway, France, England, Israel, Louisiana. (the Acadian type affecting 4.4 per 100,000), and other parts. Several types are recognized: Type I. Synonyms: Usher syndrome type I (US1, USH1) Usher syndrome type IA (US1A, USH1A) Usher syndrome, French type Type IB Synonyms: Usher syndrome type IB (US1B, USH1B) Usher syndrome, non-Acadian variety Type IC Synonyms: Usher syndrome type IC (US1C, USH1C) Usher syndrome, Acadian variety Profound congenital deafness with onset of retinitis pigmentosa by the age of 10 years. Type II Synonyms: Usher syndrome type II (US2, USH2) Type IIB Synonyms: Usher syndrome IIB (US2B, USH2B) Type III Synonyms: Usher syndrome type III (US3, USH3) Retinitis pigmentosa first noted at puberty with progressive hearing loss. Schizophrenia reported in some cases. Type IV Synonyms: Usher syndrome type IV (US4, USH4) Retinitis pigmentosa and deafness possibly transmitted as an X-linked trait. | MEDLINEPLUS_20151021:Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes your vision to get worse over time. It is the most common condition that affects both hearing and vision.
There are three types of Usher syndrome:
There is no cure. Tools such as hearing aids or cochlear implants can help some people. Training such as Braille instruction, low-vision services, or auditory training can also help.
NIH: National Institute on Deafness and Other Communication Disorders
| MSH2017_2016_08_12:Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable. | NCI2016_02D:A rare, autosomal recessive inherited syndrome caused by mutations in the CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes. It is characterized by hearing loss or deafness and progressive loss of vision. The loss of vision is the result of retinitis pigmentosa. MSH2017_2016_08_12:D052245|OMIM2016_04_17:500004|OMIM2016_04_17:590085|SNOMEDCT_US_2016_09_01:57838006|SNOMEDCT_US_2016_09_01:73119000 C4025742 Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) HPO2016_07_04:HP:0001862 C4013949 Immunodeficiency 30 IL12RB1 DEFICIENCY | IMD30 | IMMUNODEFICIENCY 30 OMIM2016_04_17:601604|OMIM2016_04_17:614891 C0949857 Mitochondrial respiratory chain deficiencies Deficiencies, Respiratory Chain | Deficiency, Respiratory Chain | Mitochondrial Respiratory Chain Deficiencies | Respiratory Chain Deficiencies, Mitochondrial | Respiratory Chain Deficiency MSH2017_2016_08_12:D028361 C0149951 Ovarian fibromata Fibroma of Ovary | Fibroma of ovary | Fibroma of ovary (disorder) | Fibroma of the Ovary | OVARIAN FIBROMATA | OVARY, FIBROMA | Ovarian Fibroma | Ovarian Fibromata | Ovarian fibroma | Ovarian fibromata | fibroma of ovary | fibroma of ovary (diagnosis) | fibroma ovary | ovarian fibroma HPO2016_07_04:The presence of a fibroma of the ovary. [HPO:probinson] | NCI2016_02D:A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts. HPO2016_07_04:HP:0010618|MSH2017_2016_08_12:C562391|OMIM2016_04_17:166970|OMIM2016_04_17:MTHU019329|SNOMEDCT_US_2016_09_01:254865006 C4225340 Brugada syndrome 9 BRGDA9 | BRUGADA SYNDROME 9 OMIM2016_04_17:605411|OMIM2016_04_17:616399 C0474809 Endometrioid tumor Endometrioid Neoplasm | Endometrioid Neoplasm of Female Reproductive System | Endometrioid Neoplasm of the Female Reproductive System | Endometrioid Tumor | Endometrioid Tumor of Female Reproductive System | Endometrioid Tumor of the Female Reproductive System | Endometrioid tumor | Endometrioid tumor (morphologic abnormality) | Endometrioid tumour | Female Reproductive Endometrioid Neoplasm | Female Reproductive Endometrioid Tumor | endometrioid tumor NCI2016_02D:A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. SNOMEDCT_US_2016_09_01:253013001 C3540453 Charcot-marie-tooth disease, demyelinating, type 4f CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F | CMT4F OMIM2016_04_17:614895 C2748541 Brugada syndrome 5 BRGDA5 | BRUGADA SYNDROME 5 | Brugada Syndrome 5 | brugada syndrome-5 | brugada syndrome-5 (diagnosis) MSH2017_2016_08_12:C567556|OMIM2016_04_17:600235|OMIM2016_04_17:612838 C0175699 Saethre-chotzen syndrome ACROCEPHALOSYNDACTYLY, TYPE III | ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY | ACS III | ACS3 | Acrocephalosyndactylies, Type 3 | Acrocephalosyndactylies, Type III | Acrocephalosyndactyly III | Acrocephalosyndactyly IIIs | Acrocephalosyndactyly Type III | Acrocephalosyndactyly syndrome, type III | Acrocephalosyndactyly, Type 3 | Acrocephalosyndactyly, Type III | Acrocephalosyndactyly, type III | Acrocephaly, Skull Asymmetry, and Mild Syndactyly | CHOTZEN SYNDROME | Chotzen Syndrome | Chotzen syndrome | Dysostosis Craniofacialis with Hypertelorism | SAETHRE-CHOTZEN SYNDROME | SCS | Saethre Chotzen Syndrome | Saethre Chotzen syndrome | Saethre-Chotzen Syndrome | Saethre-Chotzen syndrome | Saethre-Chotzen syndrome (SCS) | Saethre-Chotzen syndrome (disorder) | Syndrome, Chotzen | Syndrome, Saethre-Chotzen | Type III Acrocephalosyndactyly | acrocephalosyndactyly III | acrocephalosyndactyly III (ACS III) | chotzen syndrome | dysostosis craniofacialis with hypertelorism | saethre chotzen syndrome | saethre-chotzen syndrome JABL99:A relatively mild form of acrocephalosyndactyly with a variable pattern of craniofacial, digital, and bone abnormalities. | NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes. MSH2017_2016_08_12:D000168|OMIM2016_04_17:101400|OMIM2016_04_17:134934|OMIM2016_04_17:176943|OMIM2016_04_17:601622|SNOMEDCT_US_2016_09_01:390726000|SNOMEDCT_US_2016_09_01:390746005|SNOMEDCT_US_2016_09_01:83015004 C1333044 Cmml-2 CMML-2 | Chronic Myelomonocytic Leukemia-2 NCI2016_02D:A chronic myelomonocytic leukemia characterized by the presence of 10-19 percent blasts in the bone marrow and 5-19 percent blasts in the peripheral blood or by the presence of Auer rods regardless of the blasts count. ICD10CM_2017:C93.1 C4280335 Extra cusp on inside of front tooth Extra cusp on inside of front tooth HPO2016_07_04:HP:0011087 C0155181 Inf.eyelid dermatitis+deform. Inf.eyelid dermatitis+deform. | Infective dermatitis of eyelid of types resulting in deformity | Infective eyelid dermatitis of types resulting in deformity | Infective eyelid dermatitis of types resulting in deformity (disorder) ICD9CM_2014:373.4|SNOMEDCT_US_2016_09_01:193920003 C0005587 Depression, bipolar BIPOLAR DISEASE, DEPRESSED | BIPOLAR DISORDER DEPRESSION | BIPOLAR DISORDER, DEPRESSED | Bipolar Depression | Bipolar affective disorder, current episode depression | Bipolar affective disorder, current episode depression (disorder) | Bipolar affective disorder, depressed | Bipolar depression | CYCLOTHYMIC DISORDER, DEPRESSED | Depression, Bipolar | MANIC DEPRESSIVE DISEASE DEPRESSED PHASE | MANIC DEPRESSIVE DISEASE, DEPRESSED PHASE | Manic-depressive - now depressed | bipolar affective disorder, current episode depressed | bipolar affective disorder, current episode depressed (diagnosis) | bipolar depression | bipolar depression disorder | bipolar disorder affective, current episode depressed | bipolar disorder depressed | bipolar disorder depression | depression bipolar | depression bipolar disorder CSP2006:severe disorder characterized by one or more manic episodes; although diagnosis does not require a major depressive episode, virtually all cases eventually develop one. | NCI2016_02D:The depressive stage of bipolar disorder. MSH2017_2016_08_12:D001714|SNOMEDCT_US_2016_09_01:191627008 C0020295 Hydronephrosis HYDRONEPHROSIS | Hydronephroses | Hydronephrosis | Hydronephrosis (disorder) | Hydronephrosis NOS | Hydronephrosis NOS (disorder) | Hydronephrosis [Disease/Finding] | Unspecified hydronephrosis | hydronephroses | hydronephrosis | hydronephrosis (diagnosis) CHV2011_02:water retention in the kidney | CSP2006:distention of the pelvis and calices of the kidney with urine, as a result of obstruction of the ureter, with accompanying atrophy of the parenchyma of the organ. | HPO2016_07_04:Severe distention of the kidney with dilation of the renal pelvis and calices. [HPO:probinson] | MSH2017_2016_08_12:Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER. | NCI2016_02D:Dilation of the urinary collecting space in the kidney. | NCI2016_NCI-GLOSS_1602D:Abnormal enlargement of a kidney, which may be caused by blockage of the ureter (such as by a kidney stone) or chronic kidney disease that prevents urine from draining into the bladder. | NCI2016_NICHD_1602D:Dilation of the urinary collecting space in the kidney. HPO2016_07_04:HP:0000126|ICD10CM_2017:N13.30|ICD9CM_2014:591|MSH2017_2016_08_12:D006869|OMIM2016_04_17:MTHU001611|SNOMEDCT_US_2016_09_01:155866001|SNOMEDCT_US_2016_09_01:197791000|SNOMEDCT_US_2016_09_01:43064006 C1832841 Epilepsy, familial adult myoclonic, 1 BAFME1 | BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 1 | Benign Adult Familial Myoclonic Epilepsy 1 | CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 1 | Cortical Myoclonic Tremor With Epilepsy, Familial | Cortical Tremor, Familial | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 | Epilepsy, Familial Adult Myoclonic, 1 | Epilepsy, Myoclonic, Benign Adult Familial, Type 1 | FAME1 | FCMTE1 MSH2017_2016_08_12:C563399|OMIM2016_04_17:601068 C1858302 Ectodermal dysplasia/ skin fragility syndrome ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | Ectodermal Dysplasia-Skin Fragility Syndrome | Ectodermal dysplasia skin fragility syndrome | Ectodermal dysplasia- skin fragility syndrome | Ectodermal dysplasia/ skin fragility syndrome | Epidermolysis bullosa simplex due to plakophilin deficiency | Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) | MCGRATH SYNDROME | McGrath syndrome | Mcgrath syndrome SNOMEDCT_US_2016_09_01:A suprabasal subtype of epidermolysis bullosa simplex characterised by generalised superficial erosions and less commonly blistering. Prevalence is unknown but 11 cases have been reported to date. Onset of the disease is usually at birth with skin blistering and generalised erythema which rapidly regresses. The disease is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1. Transmission is autosomal recessive. | SNOMEDCT_US_2016_09_01:A suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. Prevalence is unknown but 11 cases have been reported to date. Onset of the disease is usually at birth with skin blistering and generalized erythema which rapidly regresses. The disease is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1. Transmission is autosomal recessive. MSH2017_2016_08_12:C536183|OMIM2016_04_17:601975|OMIM2016_04_17:604536|SNOMEDCT_US_2016_09_01:716699004 C2750413 Cap myopathy, tpm2-related Cap Myopathy, Tpm2-Related MSH2017_2016_08_12:C538351 C2931244 Craniometaphyseal dysplasia, autosomal recessive type Autosomal Recessive Craniometaphyseal Dysplasia | CMDR | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE | Craniometaphyseal Dysplasia, Autosomal Recessive | Craniometaphyseal dysplasia, autosomal recessive type MSH2017_2016_08_12:C536570|OMIM2016_04_17:121014|OMIM2016_04_17:218400 C2981236 Stage iii rectosigmoid cancer ajcc v6 Stage III Rectosigmoid Cancer AJCC v6 | Stage III Rectosigmoid Carcinoma AJCC v6 NCI2016_02D:Stage III includes: IIIA (T1-T2, N1, M0); IIIB (T3-T4, N1, M0); IIIC (Any T, N2, M0). N1: Metastasis in 1 to 3 regional lymph nodes. N2: Metastasis in 4 or more regional lymph nodes. M0: No distant metastasis. (AJCC 6th ed.) C1328355 Laryngoonychocutaneous syndrome LARYNGOONYCHOCUTANEOUS SYNDROME | LOCS | LOGIC SYNDROME | Laryngeal and ocular granulation in indian children | Laryngo onycho cutaneous syndrome | Laryngo-onycho-cutaneous syndrome | Laryngoonychocutaneous Syndrome | Laryngoonychocutaneous syndrome | Logic syndrome MSH2017_2016_08_12:C537032|OMIM2016_04_17:245660|OMIM2016_04_17:600805 C0030353 Papilledema Blurring of optic disc | Blurring of optic disk | Choked Disk | Choked Disks | Choked disc | Choked disk | Disc congestion in ocular fundus | Disc edema in ocular fundus | Disc oedema in ocular fundus | Disk, Choked | Disks, Choked | Edema of optic disc | Edema of optic disc (disorder) | Edema, Optic Disk | Edema, Optic Papilla | Edemas, Optic Disk | OPTIC DISC EDEMA | OPTIC DISCS BLURRED | OPTIC PAPILLITIS | Optic Disk Edema | Optic Nerve Papillitis | Optic Papilla Edema | Optic Papillitis | Optic disc edema | Optic disc edema (disorder) | Optic disc engorgement | Optic disc inflammation | Optic disc oedema | Optic disc swelling | Optic disc swelling (finding) | Optic disc swollen | Optic discs blurred | Optic papillitis | Optic papillitis (disorder) | PAPILLEDEMA | PAPILLITIS | PAPILLITIS OPTIC | PAPILLOEDEMA | Papilledema | Papilledema (disorder) | Papilledema NOS | Papilledema NOS (disorder) | Papilledema [Disease/Finding] | Papilledema, NOS | Papilledema, unspecified | Papillitis | Papillitis NOS | Papillitis optic | Papillitis, Optic | Papillitis, Optic Nerve | Papilloedema | Papilloedema (disorder) | Papilloedema NOS | Papilloedema, unspecified | Unspecified papilledema | Unspecified papilledema (disorder) | Unspecified papilloedema | choked discs | choked disk | disc inflammation optic | disk choked | optic disc edema | optic disc swelling | optic papillitis | optic papillitis (diagnosis) | optic; papillitis | papilledema | papilledema (diagnosis) | papilledema (physical finding) | papillitis | papillitis; optic | papilloedema | swollen optic disc CSP2006:swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. | HPO2016_07_04:Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. [HPO:probinson] | MSH2017_2016_08_12:Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175) | NCI2016_02D:Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor. | NCI2016_CTCAE_1602D:A disorder characterized by swelling around the optic disc. | NCI2016_NCI-GLOSS_1602D:Swelling around the optic disk, the area where the optic nerve (the nerve that carries messages from the eye to the brain) enters the eyeball. Papilledema occurs when increased brain pressure caused by tumors or other problems results in swelling of the optic nerve. | NCI2016_NICHD_1602D:Swelling of the optic disc secondary to increased intracranial pressure. HPO2016_07_04:HP:0001085|ICD10CM_2017:H46.0|ICD10CM_2017:H47.1|ICD10CM_2017:H47.10|ICD9CM_2014:377.0|ICD9CM_2014:377.00|ICD9CM_2014:377.31|MSH2017_2016_08_12:D010211|OMIM2016_04_17:MTHU007182|OMIM2016_04_17:MTHU026373|SNOMEDCT_US_2016_09_01:111526001|SNOMEDCT_US_2016_09_01:155187009|SNOMEDCT_US_2016_09_01:194038006|SNOMEDCT_US_2016_09_01:194041002|SNOMEDCT_US_2016_09_01:248487006|SNOMEDCT_US_2016_09_01:423341008|SNOMEDCT_US_2016_09_01:423488006|SNOMEDCT_US_2016_09_01:73221001 C1858840 Deafness, autosomal recessive 20 DEAFNESS, AUTOSOMAL RECESSIVE 20 | DFNB20 | Deafness, Autosomal Recessive 20 MSH2017_2016_08_12:C565828|OMIM2016_04_17:604060 C2015799 Other disease of neurological system Neurological disease other | Other disease of neurological system | other neurological disorders | other neurological disorders (diagnosis) C3810225 Mental retardation, autosomal recessive 41 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 | MRT41 OMIM2016_04_17:615620|OMIM2016_04_17:615637 C0521604 Diarrhea inflammatory Inflammatory diarrhea | Inflammatory diarrhea (disorder) | Inflammatory diarrhoea | diarrhea inflammatory | diarrhea; inflammatory | inflammatory diarrhea | inflammatory; diarrhea SNOMEDCT_US_2016_09_01:95544006 C0346369 Benign dermoid neoplasm of cornea Corneal dermoid | Cystic dermoid choristoma of cornea | Cystic dermoid choristoma of cornea (disorder) | Dermoid cyst of cornea | Dermoid cyst of cornea (disorder) | benign dermoid neoplasm of cornea | benign dermoid neoplasm of cornea (diagnosis) | corneal dermoid SNOMEDCT_US_2016_09_01:95728000 C3554018 Sinoatrial node dysfunction and deafness SANDD | SINOATRIAL NODE DYSFUNCTION AND DEAFNESS OMIM2016_04_17:114206|OMIM2016_04_17:614896 C1263864 Blindness and/or vision impairment level Blindness AND/OR vision impairment level | Blindness AND/OR vision impairment level (disorder) SNOMEDCT_US_2016_09_01:105597003 C2717899 Upper extremity deep vein thrombosis DVT of upper extremity | Deep venous thrombosis arm | Deep venous thrombosis of upper extremity | Deep venous thrombosis of upper extremity (disorder) | UPPER EXTREMITY THROMBOSIS DEEP VENOUS | Upper Extremity Deep Vein Thrombosis | Upper Extremity Deep Vein Thrombosis [Disease/Finding] | thrombosis of deep veins of upper extremity | thrombosis of deep veins of upper extremity (diagnosis) | venous thrombosis upper extremity deep veins MSH2017_2016_08_12:DEEP VEIN THROMBOSIS of an upper extremity vein (e.g., AXILLARY VEIN; SUBCLAVIAN VEIN; and JUGULAR VEINS). It is associated with mechanical factors (Upper Extremity Deep Vein Thrombosis, Primary) secondary to other anatomic factors (Upper Extremity Deep Vein Thrombosis, Secondary). Symptoms may include sudden onset of pain, warmth, redness, blueness, and swelling in the arm. MSH2017_2016_08_12:D056824|SNOMEDCT_US_2016_09_01:128054009 C0036224 Sarcoma, yoshida Reticulum Cell Like Sarcoma, Yoshida | Reticulum Cell-Like Sarcoma, Yoshida | Sarcoma, Yoshida | Sarcoma, Yoshida [Disease/Finding] | Yoshida Sarcoma MSH2017_2016_08_12:An experimental sarcoma of rats. MSH2017_2016_08_12:D012517 C0149985 Syphilis, secondary SECONDARY SYPHILIS | SYPHILIS SECONDARY | SYPHILIS, SECONDARY | Secondary syphilis | Secondary syphilis (disorder) | Syphilis, secondary | Unspecified secondary syphilis | Unspecified secondary syphilis (disorder) | secondary syphilis | secondary syphilis (diagnosis) | syphilis secondary | syphilis; secondary ICD9CM_2014:091.9|MSH2017_2016_08_12:C536773|SNOMEDCT_US_2016_09_01:154382002|SNOMEDCT_US_2016_09_01:186865002|SNOMEDCT_US_2016_09_01:240557004 C3553328 Uv-sensitive syndrome 3 UV-SENSITIVE SYNDROME 3 | UVSS3 OMIM2016_04_17:614632|OMIM2016_04_17:614640 C0398692 Immunoglobulin heavy chain deletion Immunoglobulin Heavy Chain Deletion | Immunoglobulin heavy chain deficiency | Immunoglobulin heavy chain deficiency (diagnosis) | Immunoglobulin heavy chain deficiency (disorder) | Immunoglobulin heavy chain deletion | immunodeficiency immunoglobulin heavy chain NCI2016_02D:A disorder that affects the production of complete immunoglobulins. Deletions in the heavy chain genes on chromosome 14 disrupt the synthesis and secretion of properly functioning antibodies resulting in monoclonal populations of truncated heavy chains without covalently bonded light chains. Such deletions have been implicated as playing a significant role in several diseases including leukemias, lymphomas and myelomas. SNOMEDCT_US_2016_09_01:234539005 C0266688 Dipygus Dipygus | Dipygus (disorder) SNOMEDCT_US_2016_09_01:71464000 C4280472 Hypertrophy of the internal surface of the cranial bones Hypertrophy of the internal surface of the cranial bones HPO2016_07_04:HP:0005890 C1319688 Blister dose form Blister | Blister (product) | Blister - unit of product usage | Blister - unit of product usage (qualifier value) | Blister dose form SNOMEDCT_US_2016_09_01:408096000|SNOMEDCT_US_2016_09_01:425565005 C4025202 Recurrent protozoan infections Recurrent protozoan infections HPO2016_07_04:Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection. [HPO:probinson] HPO2016_07_04:HP:0005386 C2936490 Cardiac arrest, out-of-hospital Cardiac Arrest, Out-of-Hospital | Cardiac Arrests, Out-of-Hospital | Heart Arrest, Out-of-Hospital | Heart Arrests, Out-of-Hospital | Out of Hospital Cardiac Arrest | Out of Hospital Heart Arrest | Out-of-Hospital Cardiac Arrest | Out-of-Hospital Cardiac Arrest [Disease/Finding] | Out-of-Hospital Cardiac Arrests | Out-of-Hospital Heart Arrest | Out-of-Hospital Heart Arrests MSH2017_2016_08_12:Occurrence of heart arrest in an individual when there is no immediate access to medical personnel or equipment. MSH2017_2016_08_12:D058687 C3160814 Cannabis use Cannabis use | cannabis use | cannabis use (diagnosis) C1868576 Paroxysmal tonic upgaze, benign childhood, with ataxia PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA | Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia MSH2017_2016_08_12:C566817|OMIM2016_04_17:168885 C0003046 Animal communication behavior Animal Communication | Animal Communications | Animal communication | Communication, Animal | Communications, Animal | animal communication behavior CSP2006:communication between animals involving the giving off by one individual of some chemical or physical signal, that, on being received by another, influences its behavior. | MSH2017_2016_08_12:Communication between animals involving the giving off by one individual of some chemical or physical signal, that, on being received by another, influences its behavior. MSH2017_2016_08_12:D000819 C1859384 Brachioskeletogenital syndrome BRACHIOSKELETOGENITAL SYNDROME | BSG SYNDROME | Brachioskeletogenital syndrome MSH2017_2016_08_12:C537084|OMIM2016_04_17:211380 C1846911 Compensatory chin elevation Compensatory chin elevation | Compensatory head tilt/chin elevation HPO2016_07_04:A tendency to hold the child elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. [HPO:probinson] HPO2016_07_04:HP:0001477|OMIM2016_04_17:MTHU000857|OMIM2016_04_17:MTHU003694 C4021971 Peripheral arteriovenous fistula Peripheral arteriovenous fistula HPO2016_07_04:HP:0100784 C1868703 Bacterial tracheitis Bacterial Tracheitis | Bacterial tracheitis | Tracheitis NCI2016_02D:Bacterial infectious process with formation of mucopurulent membranes affecting the trachea. Causative agents include Staphylococcus, Streptococcus, Haemophilus influenzae, Pseudomonas, and Klebsiella. | NCI2016_CTCAE_1602D:A disorder characterized by an infectious process involving the trachea. C0545044 Acrokeratoelastoidosis of costa ACROKERATOELASTOIDOSIS | AKE | Acrokerato-elastoidosis | Acrokerato-elastoidosis (disorder) | Acrokeratoelastoidosis of Costa | COLLAGENOUS PLAQUES OF HANDS AND FEET | Collagenous Plaques Of Hands And Feet | Collagenous plaques of hand and feet | Collagenous plaques of the hands and feet | PALMOPLANTAR KERATODERMA, PUNCTATE TYPE III | PPKP3 | Palmoplantar keratoderma, punctate type 3 | acrokeratoelastoidosis of Costa | acrokeratoelastoidosis of Costa (diagnosis) SCTSPA_2016_04_30:Trastorno del desarrollo caracterizado por p谩pulas querat贸sicas de la piel de palmas y plantas con desorganizaci贸n de las fibras el谩sticas d茅rmicas, aparentemente no debidas a traumatismos o a la luz solar | SNOMEDCT_US_2016_09_01:A developmental disorder characterized by keratotic papules of skin of hands and soles with disorganization of dermal elastic fibers that does not appear to be due to trauma or sunlight MSH2017_2016_08_12:C535653|OMIM2016_04_17:101850|SNOMEDCT_US_2016_09_01:111029001 C0151970 Ulcer of esophagus ESOPHAGEAL ULCER | ESOPHAGEAL ULCERATION | ESOPHAGUS ULCERATION | Esophageal Ulcer | Esophageal ulcer | Esophageal ulcer (diagnosis) | Esophageal ulceration | Esophagus ulcer | Esophagus ulceration | OESOPHAGEAL ULCERATION | OU - Esophageal ulcer | OU - Oesophageal ulcer | Oesophageal ulcer | Oesophageal ulceration | Oesophagus ulceration | ULCER ESOPHAGEAL | Ulcer esophageal | Ulcer oesophageal | Ulcer of eosophagus | Ulcer of esophagus | Ulcer of esophagus (disorder) | Ulcer of esophagus NOS | Ulcer of esophagus NOS (disorder) | Ulcer of esophagus, NOS | Ulcer of oesophagus | Ulcer of oesophagus (disorder) | Ulcer of oesophagus NOS | Ulcer of oesophagus, NOS | Ulceration;oesophageal | esophageal ulcer | esophageal ulcer (diagnosis) | esophageal ulceration | esophageal ulcerations | esophageal ulcers | esophagus ulcer | esophagus ulceration | esophagus ulcers | esophagus; ulcer | oesophageal ulcer | oesophageal ulceration | ulcer esophagus | ulcer oesophagus | ulcer of esophagus | ulcer; esophagus HPO2016_07_04:Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus. [HPO:probinson] | NCI2016_02D:An ulcerated lesion in the esophageal wall. | NCI2016_CTCAE_1602D:A disorder characterized by a circumscribed, inflammatory and necrotic erosive lesion on the mucosal surface of the esophageal wall. HPO2016_07_04:HP:0004791|ICD10CM_2017:K22.1|ICD10CM_2017:K22.10|ICD9CM_2014:530.2|SNOMEDCT_US_2016_09_01:155674002|SNOMEDCT_US_2016_09_01:196610001|SNOMEDCT_US_2016_09_01:30811009 C1835384 Loss of truncal adipose tissue Loss of fat tissue in trunk | Loss of subcutaneous truncal adipose tissue | Loss of truncal adipose tissue | Loss of truncal subcutaneous adipose tissue HPO2016_07_04:Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. [HPO:probinson] HPO2016_07_04:HP:0009002|OMIM2016_04_17:MTHU002036|OMIM2016_04_17:MTHU017401 C3280240 Microcephaly, epilepsy, and diabetes syndrome MEDS | MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME OMIM2016_04_17:609382|OMIM2016_04_17:614231 C1290288 Neoplasm of soft tissue of perineum Neoplasm of soft tissues of perineum | Neoplasm of soft tissues of perineum (disorder) | neoplasm of soft tissue of perineum | neoplasm of soft tissue of perineum (diagnosis) SNOMEDCT_US_2016_09_01:126615001 C1332328 Appendiceal lymphoma Appendiceal Lymphoma | Appendix Lymphoma | Lymphoma of Appendix | Lymphoma of the Appendix | Primary Appendix Lymphoma NCI2016_02D:A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare. C1969176 Hypoplastic pubic rami Hypoplastic pubic rami HPO2016_07_04:HP:0008830|OMIM2016_04_17:MTHU020127 C1334361 Lacrimal system neoplasm Lacrimal System Neoplasm | Lacrimal System Neoplasms | Lacrimal System Tumor | Neoplasm of Lacrimal System | Neoplasm of lacrimal system | Neoplasm of lacrimal system (diagnosis) | Neoplasm of lacrimal system (disorder) | Neoplasm of the Lacrimal System | Tumor of Lacrimal System | Tumor of lacrimal system | Tumor of the Lacrimal System | Tumour of lacrimal system | eye neoplasm lacrimal system SNOMEDCT_US_2016_09_01:416510003 C0002881 Anemia, hemolytic, congenital ANEMIA HEMOLYTIC HEREDITARY | Anaemia -heredit.haemol | Anaemia;haemolytic;hereditary | Anemia -heredit.hemol | Anemia, Congenital Hemolytic | Anemia, Hemolytic, Congenital | Anemia, Hemolytic, Congenital [Disease/Finding] | Anemia, Hemolytic, Hereditary | Anemia, Hereditary Hemolytic | Anemias, Congenital Hemolytic | Anemias, Hereditary Hemolytic | Congenital Hemolytic Anemia | Congenital Hemolytic Anemias | Congenital haemolytic anaemia | Congenital haemolytic anaemia NOS | Congenital haemolytic anaemia, NOS | Congenital haemolytic anemia | Congenital hemolytic anemia | Congenital hemolytic anemia (disorder) | Congenital hemolytic anemia NOS | Congenital hemolytic anemia, NOS | Hemolytic Anemia, Congenital | Hemolytic Anemia, Hereditary | Hemolytic Anemias, Congenital | Hemolytic Anemias, Hereditary | Hemolytic anemia, congenital | Hereditary Hemolytic Anemia | Hereditary Hemolytic Anemias | Hereditary haemol. anaemia NOS | Hereditary haemol. anemia NOS | Hereditary haemol.anaem | Hereditary haemolytic anaemia | Hereditary haemolytic anaemia NOS | Hereditary haemolytic anaemia, NOS | Hereditary haemolytic anaemia, unspecified | Hereditary haemolytic anaemias | Hereditary hemol.anaem | Hereditary hemolytic anemia | Hereditary hemolytic anemia (disorder) | Hereditary hemolytic anemia NOS | Hereditary hemolytic anemia NOS (disorder) | Hereditary hemolytic anemia, NOS | Hereditary hemolytic anemia, unspecified | Hereditary hemolytic anemias | Other hered. haem. anaemias | Other hered. hem. anemias | anaemias haemolytics hereditary | anemia; congenital, hereditary hemolytic | anemia; hemolytic, hereditary | congenital hemolytic anemia | congenital; anemia, hereditary hemolytic | hemolytic; anemia, hereditary | hereditary haemolytic anaemia | hereditary haemolytic anaemias | hereditary hemolytic anemia | hereditary hemolytic anemia (diagnosis) CSP2006:includes hereditary erythrocyte membrane defects, enzyme deficiencies, hemoglobin abnormalities, stem cell defects (paroxysmal nocturnal hemoglobinuria), and alloimmune (Rh) disease of newborn. | HPO2016_07_04:A form of hemolytic anemia with congenital onset. [HPO:probinson] | MSH2017_2016_08_12:Hemolytic anemia due to various intrinsic defects of the erythrocyte. | NCI2016_02D:A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. HPO2016_07_04:HP:0004804|ICD10CM_2017:D58.9|ICD9CM_2014:282|ICD9CM_2014:282.9|MSH2017_2016_08_12:D000745|OMIM2016_04_17:MTHU052589|SNOMEDCT_US_2016_09_01:154794008|SNOMEDCT_US_2016_09_01:154801000|SNOMEDCT_US_2016_09_01:191208008|SNOMEDCT_US_2016_09_01:267556002|SNOMEDCT_US_2016_09_01:267558001|SNOMEDCT_US_2016_09_01:38911009|SNOMEDCT_US_2016_09_01:42601008 C0393525 Progressive cerebellar ataxia Ataxia, progressive | Cerebellar ataxia, progressive | Progressive ataxia | Progressive cerebellar ataxia | Progressive cerebellar ataxia (disorder) HPO2016_07_04:HP:0002073|OMIM2016_04_17:MTHU001770|OMIM2016_04_17:MTHU005095|OMIM2016_04_17:MTHU014231|OMIM2016_04_17:MTHU026669|SNOMEDCT_US_2016_09_01:230233000 C1836823 Nephropathy with pretibial epidermolysis bullosa and deafness NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS | Nephropathy with Pretibial Epidermolysis Bullosa and Deafness MSH2017_2016_08_12:C563798|OMIM2016_04_17:602243|OMIM2016_04_17:609057 C1855229 Spondylometaphyseal dysplasia, sedaghatian type Lethal Metaphyseal Dysplasia | METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL | Metaphyseal Chondrodysplasia, Congenital Lethal | SEDAGHATIAN CHONDRODYSPLASIA | SMDS | SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE | Sedaghatian Chondrodysplasia | Spondylometaphyseal dysplasia, Sedaghatian type MSH2017_2016_08_12:C535798|OMIM2016_04_17:138322|OMIM2016_04_17:250220 C1333071 Chordoma of clivus Chordoma of Clivus | Chordoma of clivus | Chordoma of clivus (disorder) | Chordoma of the Clivus | Clival Chordoma | Clivus Chordoma | chordoma of clivus | chordoma of clivus (diagnosis) NCI2016_02D:A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells. SNOMEDCT_US_2016_09_01:446939001 C0403824 Teratozoospermia Abnormal Spermatozoa | Abnormal Spermatozoas | Abnormal shape of sperm | Abnormal sperm morphology | Spermatozoa, Abnormal | Spermatozoas, Abnormal | Teratospermia | Teratospermias | Teratozoospermia | Teratozoospermia (disorder) | Teratozoospermia (finding) | Teratozoospermias | teratospermia | teratozoospermia HPO2016_07_04:A structural anomaly of sperm. [HPO:probinson] | MSH2017_2016_08_12:Conditions in which sperm show abnormal morphology. HPO2016_07_04:HP:0012864|MSH2017_2016_08_12:D000072660|SNOMEDCT_US_2016_09_01:236817003 C0268384 Familial amyloid neuropathy, portuguese type AMYLOIDOSIS, NEUROPATHIC | Amyloid Neuropathy Type 1 | Amyloid Syndrome, Neuropathic | Amyloid Syndromes, Neuropathic | Amyloid polyneuropathy type I | Amyloid polyneuropathy type I (disorder) | Amyloidoses, Portuguese Polyneuritic | Amyloidosis, Portuguese Polyneuritic | Amyloidosis, type I | Amyloidosis, type I (disorder) | Andrade syndrome | Andrade type amyloid polyneuropathy | Andrade type amyloid polyneuropathy (disorder) | Corino de Andrade paramyloidosis | Familial Amyloid Neuropathy, Andrade Type | Familial Amyloid Neuropathy, Portuguese Type | Familial Amyloid Polyneuropathy, Type I | Familial Portuguese Polyneuritic Amyloidosis | Familial amyloid neuropathy, Andrade type | Familial amyloid neuropathy, Portuguese type | Familial amyloid neuropathy, type I | Familial amyloid polyneuropathy, 30 Met-for-Val | Familial primary amyloidosis of Andrade | Hereditary amyloid polyneuropathy Portuguese type | Hereditary neuropathic amyloidosis, Portuguese type | Hereditary neuropathic amyloidosis, type I | Japanese type amyloid polyneuropathy | Japanese type amyloid polyneuropathy (disorder) | Neuropathic Amyloid Syndrome | Neuropathic Amyloid Syndromes | Polyneuritic Amyloidoses, Portuguese | Polyneuritic Amyloidosis, Portuguese | Portuguese Polyneuritic Amyloidoses | Portuguese Polyneuritic Amyloidosis | Portuguese Type Familial Amyloid Neuropathy | Portuguese polyneuritic amyloidosis | Portuguese type amyloid polyneuropathy | Portuguese type amyloid polyneuropathy (disorder) | Portuguese; amyloidosis | Swedish type amyloid polyneuropathy | Swedish type amyloid polyneuropathy (disorder) | Syndrome, Neuropathic Amyloid | Syndrome, Wohlwill-Andrade | Syndrome, Wohlwill-Corino Andrade | Syndromes, Neuropathic Amyloid | Type I Familial Amyloid Polyneuropathy | Wohlwill Andrade Syndrome | Wohlwill Corino Andrade Syndrome | Wohlwill-Andrade Syndrome | Wohlwill-Corino Andrade Syndrome | Wohlwill-Corino Andrade syndrome | amyloidosis; Portuguese | type I neuropathic amyloidosis | type I neuropathic amyloidosis (Portuguese) | type I neuropathic amyloidosis (diagnosis) MSH2017_2016_08_12:D028227|SNOMEDCT_US_2016_09_01:237866005|SNOMEDCT_US_2016_09_01:35080000|SNOMEDCT_US_2016_09_01:397883002|SNOMEDCT_US_2016_09_01:397906009|SNOMEDCT_US_2016_09_01:397960001|SNOMEDCT_US_2016_09_01:398163002|SNOMEDCT_US_2016_09_01:398229007 C4025741 Clinodactyly of the 5th toe Clinodactyly of the 5th toe HPO2016_07_04:Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe). [HPO:probinson] HPO2016_07_04:HP:0001864 C4025717 Abnormality of the small intestine Abnormality of the small intestine HPO2016_07_04:An abnormality of the small intestine. [HPO:probinson] HPO2016_07_04:HP:0002244 C0432371 Cocaine fetal syndrome Fetal cocaine syndrome | Fetal cocaine syndrome (disorder) | Foetal cocaine syndrome | cocaine fetal syndrome | fetal cocaine syndrome SNOMEDCT_US_2016_09_01:254250002 C0268483 Tyrosinemias Hereditary Tyrosinemia | Hereditary Tyrosinemias | Hypertyrosinemia | Tyrosinaemia | Tyrosinemia | Tyrosinemia (disorder) | Tyrosinemia, Hereditary | Tyrosinemias | Tyrosinemias [Disease/Finding] | Tyrosinemias, Hereditary | hereditary tyrosinemia | tyrosinaemia | tyrosinemia | tyrosinemia (diagnosis) CSP2006:group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. | MSH2017_2016_08_12:A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3) | NCI2016_02D:An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. ICD10CM_2017:E70.21|MSH2017_2016_08_12:D020176|OMIM2016_04_17:MTHU037988|SNOMEDCT_US_2016_09_01:190694001 C0270730 Mptp induced parkinsonism 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced parkinsonism | 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced parkinsonism (disorder) | 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine-induced parkinsonism | 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine-induced parkinsonism (disorder) | MPTP - Methylphenyltetrahydropyridine-induced parkinsonism | MPTP Induced Parkinsonism | MPTP Neurotoxicity Syndrome | MPTP Neurotoxicity Syndromes | MPTP Poisoning | MPTP Poisoning [Disease/Finding] | MPTP-Induced Parkinsonism | MPTP-induced parkinsonism | MPTP-induced parkinsonism (disorder) | Methylphenyltetrahydropyridine-induced parkinsonism | Neurotoxicity Syndrome, MPTP | Neurotoxicity Syndromes, MPTP | Parkinsonism, MPTP-Induced | Poisoning, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine | Poisoning, MPTP MSH2017_2016_08_12:A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8) MSH2017_2016_08_12:D020267|SNOMEDCT_US_2016_09_01:15782007 C1290306 Neoplasm of trunk Neoplasm of trunk | Neoplasm of trunk (disorder) | neoplasm of trunk (diagnosis) SNOMEDCT_US_2016_09_01:126637008 C0036133 Salpingo oophoritis Inflammation of ovary and fallopian tube | SALPINGO OOPHORITIS | Salpingitis and oophoritis | Salpingitis and oophoritis not specified as acute, subacute, or chronic | Salpingitis and oophoritis unspecified | Salpingitis and oophoritis unspecified (disorder) | Salpingitis and oophoritis, unspecified | Salpingitis/oophor.unspec.NOS | Salpingitis/oophoritis NOS | Salpingitis/oophoritis NOS (disorder) | Salpingitis/oophoritis unspec. | Salpingo-oophoritis | Salpingo-oophoritis unspecif. | Salpingo-oophoritis unspecified | Salpingo-oophoritis unspecified (disorder) | Tubo-ovarian inflammatory disease | Tubo-ovarian inflammatory disease (disorder) | Unspecified salpingitis and oophoritis NOS | Unspecified salpingitis and oophoritis NOS (disorder) | infection; tubo-ovarian | inflammation; tubo-ovarian | salpingo oophoritis | salpingo-oophoritis | salpingo-oophoritis (diagnosis) | salpingo-ovaritis | tubo-ovarian inflammatory disease | tubo-ovarian inflammatory disease (diagnosis) | tubo-ovarian; disorder, inflammatory | tubo-ovarian; infection | tubo-ovarian; inflammation ICD10CM_2017:N70|ICD10CM_2017:N70.9|ICD10CM_2017:N70.93|ICD9CM_2014:614.2|SNOMEDCT_US_2016_09_01:155971007|SNOMEDCT_US_2016_09_01:198147007|SNOMEDCT_US_2016_09_01:198150005|SNOMEDCT_US_2016_09_01:198153007|SNOMEDCT_US_2016_09_01:266650009|SNOMEDCT_US_2016_09_01:46536000 C1839269 Duplication of renal pelvis Duplication of renal pelvis HPO2016_07_04:A duplication of the renal pelvis. [HPO:probinson] HPO2016_07_04:HP:0005580|OMIM2016_04_17:MTHU006855 C4023332 Abnormality of corneal endothelium Abnormality of corneal endothelium HPO2016_07_04:Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. [DDD:gblack] HPO2016_07_04:HP:0011488 C0268595 Glutaric aciduria, type 1 GA I | GLUTARIC ACIDEMIA I | GLUTARIC ACIDURIA I | GLUTARYL-CoA DEHYDROGENASE DEFICIENCY | Glutaric Acidemia I | Glutaric Acidemia Type 1 | Glutaric Acidemia Type I | Glutaric Aciduria I | Glutaric Aciduria, Type 1 | Glutaric acidaemia, type 1 | Glutaric acidemia 1 | Glutaric acidemia type 1 | Glutaric acidemia, type 1 | Glutaric aciduria (type I) | Glutaric aciduria 1 | Glutaric aciduria type I | Glutaric aciduria, type 1 | Glutaric aciduria, type 1 (disorder) | Glutaryl-CoA dehydrogenase deficiency | Glutaryl-CoA dehydrogenase deficiency (disorder) | Glutaryl-CoA dehydrogenase deficiency [Ambiguous] | Glutaryl-coenzyme A dehydrogenase deficiency | Glutaryl-coenzyme A dehydrogenase deficiency (disorder) | glutaric aciduria type 1 | glutaric aciduria type i | glutaryl-CoA dehydrogenase deficiency | glutaryl-CoA dehydrogenase deficiency (diagnosis) NCI2016_02D:A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and urinary excretion of glutaric acid. Patients present with brain atrophy, microcephaly, and acute dystonia. ICD10CM_2017:E72.3|MSH2017_2016_08_12:C536833|OMIM2016_04_17:231670|OMIM2016_04_17:608801|OMIM2016_04_17:MTHU012716|SNOMEDCT_US_2016_09_01:190730004|SNOMEDCT_US_2016_09_01:237930005|SNOMEDCT_US_2016_09_01:360416003|SNOMEDCT_US_2016_09_01:76175005 C2007059 Osteoclast-like giant cell neoplasm of pancreas Osteoclast-like Giant Cell Neoplasm of Pancreas | Osteoclast-like Giant Cell Neoplasm of the Pancreas | Pancreatic Osteoclast-Like Giant Cell Carcinoma | Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells | carcinoma of pancreas with osteoclast-like giant cells | carcinoma of pancreas with osteoclast-like giant cells (diagnosis) | pancreatic carcinoma with osteoclast-like giant cells NCI2016_02D:A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells. C1291710 Disturbances of affect AFFECT ABNORMAL | AFFECT ALTERED | Abnormal affect | Abnormal affect (finding) | Affect alteration | Affect altered | Alteration in affect | Disturbance in affect | Disturbance in affect (finding) | Disturbance in affect, NOS | disturbances of affect | mood and affect disturbance SNOMEDCT_US_2016_09_01:386782008|SNOMEDCT_US_2016_09_01:416383008|SNOMEDCT_US_2016_09_01:74421008 C0149654 Conduct disorder CONDUCT DISORDER | Conduct Disorder | Conduct Disorder [Disease/Finding] | Conduct Disorders | Conduct behavior disorder | Conduct behaviour disorder | Conduct disorder | Conduct disorder (disorder) | Conduct disorder NOS | Conduct disorder, unspecified | Conduct disorders | Disorder;conduct | Disturbance of conduct NOS | Disturbance of conduct NOS (disorder) | Disturbance of conduct unspec. | Unspecified disturbance of conduct | Unspecified disturbance of conduct (disorder) | [X]Conduct disorder, unspecified | [X]Conduct disorders | [X]Conduct disorders (disorder) | conduct disorder | conduct disorder (diagnosis) | conduct disorders CSP2006:mental disorder of childhood and adolescence characterized by repetitive and persistent patterns of conduct in which rights of others and age-appropriate societal rules are violated; the conduct is more serious than ordinary mischief and pranks. | MSH2017_2016_08_12:A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994) | NCI2016_02D:A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period. | PSY2004:Repetitive and persistent aggressive or nonaggressive behavior in which basic rights of others or social norms are violated. Self esteem is generally low, and an inability to develop social relationships and lack of concern for others may or may not be present. ICD10CM_2017:F91|ICD10CM_2017:F91.9|ICD9CM_2014:312.9|MSH2017_2016_08_12:D019955|SNOMEDCT_US_2016_09_01:154945001|SNOMEDCT_US_2016_09_01:192104004|SNOMEDCT_US_2016_09_01:192106002|SNOMEDCT_US_2016_09_01:192597006|SNOMEDCT_US_2016_09_01:192603009|SNOMEDCT_US_2016_09_01:268782006|SNOMEDCT_US_2016_09_01:268785008|SNOMEDCT_US_2016_09_01:430909002 C0035067 Renal artery stenosis Narrowing of kidney artery | RAS - Renal artery stenosis | RENAL ARTERY STENOSIS | Renal Artery Stenoses | Renal Artery Stenosis | Renal artery stenosis | Renal artery stenosis (disorder) | Renal artery stenosis NOS | Renal artery stenosis of unknown cause | Renal artery stenosis of unknown cause (disorder) | Renal artery stenosis of unknown cause (disorder) [Ambiguous] | Renal artery stenosis, NOS | Stenoses, Renal Artery | Stenosis, Renal Artery | Stenosis;artery;renal | arteries renal stenosis | artery renal stenosis | artery; stenosis, renal | renal artery stenosis | renal artery stenosis (diagnosis) | renal artery; stenosis | stenosis artery renal | stenosis renal artery | stenosis; artery, renal | stenosis; renal artery HPO2016_07_04:The presence of stenosis of the renal artery. [HPO:probinson] | NCI2016_02D:Narrowing of a main artery in the kidney.(NICHD) | NCI2016_NICHD_1602D:Narrowing of a main artery in the kidney. HPO2016_07_04:HP:0001920|MSH2017_2016_08_12:D012078|OMIM2016_04_17:MTHU014941|SNOMEDCT_US_2016_09_01:204481003|SNOMEDCT_US_2016_09_01:282664001|SNOMEDCT_US_2016_09_01:302233006|SNOMEDCT_US_2016_09_01:83122005 C0235946 Cerebral atrophy Atrophy (Cerebral) | Atrophy;cerebral | BRAIN ATROPHY | Brain atrophy | Brain wasting | CEREBRAL ATROPHY | Cerebral Atrophy | Cerebral atrophy | Cerebral atrophy (disorder) | Cerebral cortex atrophy | Cerebral cortical atrophy | Cortical Atrophy | Cortical atrophy | atrophy brain | atrophy cerebral | atrophy cortical | atrophy; brain | atrophy; cortical | brain atrophy | brain; atrophy | cerebral atrophy | cortical atrophy | cortical atrophy (diagnosis) | cortical; atrophy HPO2016_07_04:Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. [HPO:sdoelken] | HPO2016_07_04:Atrophy of the cortex of the cerebrum. [HPO:probinson] | HPO2016_07_04:Partial or complete wasting (loss) of brain tissue that was once present. [HPO:probinson] | NCI2016_02D:Atrophy of the cerebrum caused by focal or generalized neuronal loss. HPO2016_07_04:HP:0002059|HPO2016_07_04:HP:0002120|HPO2016_07_04:HP:0012444|OMIM2016_04_17:MTHU000199|OMIM2016_04_17:MTHU002761|OMIM2016_04_17:MTHU005283|OMIM2016_04_17:MTHU015450|OMIM2016_04_17:MTHU034080|SNOMEDCT_US_2016_09_01:192824002|SNOMEDCT_US_2016_09_01:278849000 C0280378 Epidermoid carcinoma of the nasopharynx, stage i Nasopharyngeal squamous cell carcinoma stage I | Stage I Keratinizing Epidermoid Carcinoma of Nasopharynx | Stage I Keratinizing Epidermoid Carcinoma of the Nasopharynx | Stage I Keratinizing Squamous Cell Carcinoma of Nasopharynx | Stage I Keratinizing Squamous Cell Carcinoma of the Nasopharynx | Stage I Nasopharyngeal Keratinizing Epidermoid Carcinoma | Stage I Nasopharyngeal Keratinizing Squamous Cell Carcinoma | Stage I Nasopharyngeal Keratinizing Squamous Cell Carcinoma AJCC v7 | epidermoid carcinoma of the nasopharynx, stage I | nasopharyngeal squamous cell carcinoma, stage I | nasopharynx squamous cell carcinoma, stage I | squamous cell carcinoma of the nasopharynx, stage I | stage I squamous cell carcinoma of the nasopharynx NCI2016_02D:Stage I includes: T1, N0, M0. T1: Nasopharyngeal cancer with tumor confined to the nasopharynx, or tumor extending to oropharynx and/or nasal cavity without parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.) C0748540 Scleroderma, limited Limited Scleroderma | Limited Systemic Scleroderma | Limited Systemic Sclerodermas | Limited cutaneous systemic sclerosis | Limited scleroderma | Limited systemic sclerosis | Limited systemic sclerosis (disorder) | SCLERODERMA LIMITED | Scleroderma, Limited | Scleroderma, Limited Systemic | Scleroderma, Limited [Disease/Finding] | Sclerodermas, Limited Systemic | Systemic Scleroderma, Limited | Systemic Sclerodermas, Limited | Systemic sclerosis with limited cutaneous involvement | Systemic sclerosis with limited cutaneous involvement (disorder) | Systemic sclerosis, limited | Systemic sclerosis, limited (disorder) | Systemic sclerosis, limited (disorder) [Ambiguous] MSH2017_2016_08_12:The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma. MSH2017_2016_08_12:D045745|SNOMEDCT_US_2016_09_01:128459005|SNOMEDCT_US_2016_09_01:298285004|SNOMEDCT_US_2016_09_01:299276009 C1333858 Grade 3 rectal adenocarcinoma Grade 3 Rectal Adenocarcinoma | Grade III Rectal Adenocarcinoma | Poorly Differentiated Rectal Adenocarcinoma NCI2016_02D:A rectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with less than 50% glandular formation. C0016399 Seizure focal motor Epilepsy, Focal Motor | Epilepsy, Motor Partial | Epilepsy, Partial, Motor | Epilepsy, Partial, Motor [Disease/Finding] | Epilepsy, focal motor NOS | Epilepsy, motor partial | FOCAL MOTOR EPILEPSY | Focal Motor Epilepsy | Focal Motor Seizure | Focal Motor Seizures | Focal motor seizure | Focal motor seizure (disorder) | Focal motor seizure (finding) | Focal motor seizure, NOS | Focal motor seizures | Focal seizure, motor | Localized motor seizures | Motor Epilepsy, Focal | Motor Partial Seizure Disorder | Motor Seizure Disorder | Motor Seizure Disorders | Partial Epilepsy, Motor | Partial Motor Seizure | Partial Seizure Disorder, Motor | Partial motor attacks | Partial motor seizures | Partial seizure, motor | SEIZURE FOCAL MOTOR | Seizure Disorder, Motor | Seizure Disorder, Partial, Motor | Seizure Disorders, Motor | Seizures, Focal Motor | Simple partial seizure with motor dysfunction | Simple partial seizure with motor dysfunction (disorder) | Simple partial seizure with motor dysfunction (finding) | Simple partial seizures with motor signs | epilepsy; motor partial | focal motor seizure | focal motor seizures | motor focal epilepsy | motor partial seizure | motor partial seizure (diagnosis) HPO2016_07_04:Focal seizures involving musculature in any form. [HPO:jalbers] | MSH2017_2016_08_12:A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur. | NCI2016_02D:A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles. | NCI2016_FDA_1602D:A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles. HPO2016_07_04:HP:0011153|MSH2017_2016_08_12:D020938|SNOMEDCT_US_2016_09_01:128612007|SNOMEDCT_US_2016_09_01:67139004|SNOMEDCT_US_2016_09_01:82401000 C1720957 Hyper-igm immunodeficiency syndrome, type 3 HIGM3 | HIGM3 Syndrome | HIGM3 Syndromes | HYPER-IgM SYNDROME 3 | Hyper IgM Immunodeficiency Syndrome Type 3 | Hyper IgM Immunodeficiency Syndrome, Type 3 | Hyper IgM Syndrome 3 | Hyper-IgM Immunodeficiency Syndrome Type 3 | Hyper-IgM Immunodeficiency Syndrome, Type 3 | Hyper-IgM Syndrome 3 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 | Immunodeficiency with Hyper IgM, Type 3 | Immunodeficiency with Hyper-IgM, Type 3 MSH2017_2016_08_12:Hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 ANTIGEN. MSH2017_2016_08_12:D053306|OMIM2016_04_17:109535|OMIM2016_04_17:606843 C1709869 Rectosigmoid signet ring cell carcinoma Rectosigmoid Signet Ring Cell Carcinoma NCI2016_02D:An infiltrating adenocarcinoma arising from the rectosigmoid area. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population. C0005686 Urinary bladder diseases BLADDER DISORDER | Bladder Disease | Bladder Diseases | Bladder Disorder | Bladder Disorders | Bladder disease or syndrome | Bladder disorder | Bladder disorder NOS | Bladder disorder, unspecified | Bladder disorders NOS | Bladder disorders NOS (disorder) | Bladder--Diseases | DISEASES OF THE BLADDER | Disease of bladder | Disease of bladder (disorder) | Disease of bladder, NOS | Disorder of bladder | Disorder of bladder and bladder neck | Disorder of bladder, NOS | Disorder of urinary bladder | Disorder of urinary bladder (disorder) | Unspecified disorder of bladder | Urinary Bladder Disease | Urinary Bladder Diseases | Urinary Bladder Diseases [Disease/Finding] | Urinary Bladder Disorder | bladder disease | bladder diseases | bladder disorder | bladder disorders | disease (or disorder); bladder | disease (or disorder); urinary bladder | disease bladder | diseases of the bladder | disorder of bladder | disorder of bladder (diagnosis) | urinary bladder disorder CSP2006:disease or disorder of the urinary bladder, the musculomembranous sac in the anterior of the pelvic cavity that serves as a reservoir for urine, which it receives through the ureters and discharges through the urethra. | MEDLINEPLUS_20151021:The bladder is a hollow organ in your lower abdomen that stores urine. Many conditions can affect your bladder. Some common ones are
Doctors diagnose bladder diseases using different tests. These include urine tests, x-rays, and an examination of the bladder wall with a scope called a cystoscope. Treatment depends on the cause of the problem. It may include medicines and, in severe cases, surgery.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
| MSH2017_2016_08_12:Pathological processes of the URINARY BLADDER. | NCI2016_02D:A non-neoplastic or neoplastic disorder affecting the urinary bladder. A representative example of non-neoplastic bladder disorder is bacterial bladder infection. A representative example of neoplastic bladder disorder is bladder carcinoma. ICD10CM_2017:N32.9|ICD9CM_2014:596.9|MSH2017_2016_08_12:D001745|SNOMEDCT_US_2016_09_01:155886002|SNOMEDCT_US_2016_09_01:155890000|SNOMEDCT_US_2016_09_01:197897007|SNOMEDCT_US_2016_09_01:266630005|SNOMEDCT_US_2016_09_01:42643001 C0262584 Carcinoma, small cell Carcinoma, Oat Cell | Carcinoma, Small Cell | Carcinoma, Small Cell [Disease/Finding] | Carcinomas, Oat Cell | Carcinomas, Small Cell | Oat Cell Cancer | Oat Cell Carcinoma | Oat Cell Carcinomas | Oat cell carcinoma | Oat cell carcinoma (morphologic abnormality) | Oat cell carcinoma syndrome | Reserve cell carcinoma | Round cell carcinoma | SCC - Small cell carcinoma | Small Cell Cancer | Small Cell Carcinoma | Small Cell Carcinomas | Small Cell NEC | Small Cell Neuroendocrine Carcinoma | Small cell car. (extrapulmonary) | Small cell carcinoma | Small cell carcinoma (extrapulmonary) | Small cell carcinoma (morphologic abnormality) | Small cell carcinoma NOS | Small cell carcinoma, NOS | Small cell neuroendocrine carcinoma | [M]Small cell carcinoma NOS | [M]Small cell carcinoma NOS (morphologic abnormality) | oat cell cancer | oat cell carcinoma | small cell carcinoma | small cell carcinoma (diagnosis) MSH2017_2016_08_12:An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7) | NCI2016_02D:A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early. MSH2017_2016_08_12:D018288|SNOMEDCT_US_2016_09_01:189555001|SNOMEDCT_US_2016_09_01:74364000|SNOMEDCT_US_2016_09_01:76817009 C0024228 Lymphatic diseases DISEASES OF THE LYMPHOID TISSUES | Disease of lymphoid system | Disease of lymphoid system (disorder) | Disease, Lymphatic | Diseases of lymph node or lymph vessels | Diseases, Lymphatic | Disorder of lymphatic system | Disorder of lymphatic system (disorder) | Disorder of lymphatics | Disorder of lymphatics, NOS | Disorder of lymphoid system | Disorder of lymphoid system (disorder) | Disorders of lymph node and lymphatics | Disorders of lymph node and lymphatics (disorder) | Lymphangiopathies | Lymphangiopathy | Lymphangiopathy NOS | Lymphangiopathy, NOS | Lymphatic Disease | Lymphatic Diseases | Lymphatic Diseases [Disease/Finding] | Lymphatic Disorders | Lymphatic disease | Lymphatic disorder | Lymphatics--Diseases | disease (or disorder); lymphatic | disorder of lymphatic system | disorder of lymphatic system (diagnosis) | disorders lymphatic system | lymphatic disease | lymphatic diseases | lymphatic disorder | lymphatic disorders | lymphatic system disorder CSP2006:condition in which there is a deviation from or interruption of the normal structure or function of the lymph or lymph vessels. | MEDLINEPLUS_20151021:The lymphatic system is a network of tissues and organs. It is made up of
Your bone marrow and thymus produce the cells in lymph. They are part of the system, too.
The lymphatic system clears away infection and keeps your body fluids in balance. If it's not working properly, fluid builds in your tissues and causes swelling, called lymphedema. Other lymphatic system problems can include infections, blockage, and cancer.
| MSH2017_2016_08_12:Diseases of LYMPH; LYMPH NODES; or LYMPHATIC VESSELS. HPO2016_07_04:HP:0100763|MSH2017_2016_08_12:D008206|SNOMEDCT_US_2016_09_01:111590001|SNOMEDCT_US_2016_09_01:155452000|SNOMEDCT_US_2016_09_01:234087005|SNOMEDCT_US_2016_09_01:266326002|SNOMEDCT_US_2016_09_01:3305006|SNOMEDCT_US_2016_09_01:362971004 C3809710 Telangiectasia, hereditary hemorrhagic, type 5 HHT5 | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 OMIM2016_04_17:605120|OMIM2016_04_17:615506 C1865372 Athabaskan severe combined immunodeficiency ATHABASKAN SEVERE COMBINED IMMUNODEFICIENCY | Athabaskan severe combined immunodeficiency MSH2017_2016_08_12:C536786|OMIM2016_04_17:602450 C0033918 Military psychology Military Psychology | Psychology, Military MSH2017_2016_08_12:The branch of applied psychology concerned with psychological aspects of selection, assignment, training, morale, etc., of Armed Forces personnel. MSH2017_2016_08_12:D011592 C1864472 Prostate cancer, hereditary, 8 HPC8 | PCAP | PREDISPOSING FOR PROSTATE CANCER | PROSTATE CANCER, HEREDITARY, 8 | Predisposing For Prostate Cancer | Prostate Cancer, Hereditary, 8 MSH2017_2016_08_12:C566426|OMIM2016_04_17:602759 C0029411 Osteoarthropathy, primary hypertrophic Autosomal Recessive Pachydermoperiostosis | Clubbed nail pachydermoperiostosis | Friedrich-Erb-Arnold syndrome | HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 | Hypertrophic Osteoarthropathy, Idiopathic | Hypertrophic Osteoarthropathy, Primary | Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive | Idiopathic Hypertrophic Osteoarthropathy | Marie-Bamberger syndrome, idiopathic | Osteoarthropathy, Idiopathic Hypertrophic | Osteoarthropathy, Primary Hypertrophic | Osteoarthropathy, Primary Hypertrophic [Disease/Finding] | Osteoarthropathy, primary hypertrophic | PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE | PDP, AUTOSOMAL RECESSIVE | PHO, AUTOSOMAL RECESSIVE | PHOAR1 | Pachydermoperiostosis | Pachydermoperiostosis of nail | Pachydermoperiostosis of nail (disorder) | Pachydermoperiostosis of nail [Ambiguous] | Pachydermoperiostosis syndrome | Pachydermoperiostosis syndrome (disorder) | Pachydermoperiostosis, Autosomal Recessive | Primary Hypertrophic Osteoarthropathy | Primary hypertrophic osteoarthropathy | Recessive Pachydermoperiostosis, Autosomal | Roy-Jutras syndrome | TOURAINE-SOLENTE-GOLE SYNDROME | Touraine Solente Gole Syndrome | Touraine-Solente-Gole Syndrome | Touraine-Solente-Gole syndrome | Touraine-Solente-Gol茅 syndrome | UEHLINGER SYNDROME | Uehlinger's syndrome | pachydermoperiostosis | pachydermoperiostosis (diagnosis) MSH2017_2016_08_12:A condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, SEBORRHEA; HYPERHIDROSIS; periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet. It is more prevalent in the male, and is usually first evident during adolescence. Inheritance is primarily autosomal recessive, but an autosomal dominant form exists. | NCI2016_02D:A rare disorder of unknown etiology characterized by hypertrophy of the bones of the distal extremities, periostosis of the tubular bones, digital clubbing, and skin changes including coarse facial features, acne, and hyperhydrosis. ICD10CM_2017:M89.4|MSH2017_2016_08_12:D010004|OMIM2016_04_17:259100|OMIM2016_04_17:601688|SNOMEDCT_US_2016_09_01:201124000|SNOMEDCT_US_2016_09_01:223726008|SNOMEDCT_US_2016_09_01:239052008|SNOMEDCT_US_2016_09_01:88220006 C1332207 Adult mesenchymal chondrosarcoma Adult Mesenchymal Chondrosarcoma NCI2016_02D:A mesenchymal chondrosarcoma occurring in adults. C3280112 Myasthenic syndrome, congenital, 16 CMS16 | MYASTHENIC SYNDROME, CONGENITAL, 16 | MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE OMIM2016_04_17:603967|OMIM2016_04_17:614198 C0239594 Short finger FINGER SHORTNESS | Short finger | Short finger (finding) | Short fingers | Stubby finger | fingers short | fingers shortness | short finger HPO2016_07_04:HP:0009381|OMIM2016_04_17:MTHU003736|SNOMEDCT_US_2016_09_01:249765007 C3862454 Piriformis syndrome right-sided Right-sided piriformis syndrome | Right-sided piriformis syndrome (disorder) | piriformis syndrome right-sided | right-sided piriformis syndrome | right-sided piriformis syndrome (diagnosis) SNOMEDCT_US_2016_09_01:291951000119108 C3150343 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY OMIM2016_04_17:142600|OMIM2016_04_17:235700 C1864730 Polyposis syndrome, hereditary mixed, 2 HMPS2 | POLYPOSIS SYNDROME, HEREDITARY MIXED, 2 | Polyposis Syndrome, Hereditary Mixed, 2 MSH2017_2016_08_12:C566451|OMIM2016_04_17:601299|OMIM2016_04_17:610069 C1845667 Retinitis pigmentosa 3 CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN | CONE-ROD DEGENERATION, X-LINKED | Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women | Cone-Rod Degeneration, X-Linked | RETINITIS PIGMENTOSA 15 | RETINITIS PIGMENTOSA 3 | RP15 | RP3 | Retinitis Pigmentosa 15 | Retinitis Pigmentosa 3 MSH2017_2016_08_12:C564520|OMIM2016_04_17:300029|OMIM2016_04_17:312610 C0333173 Pseudoobstruction PSEUDOOBSTRUCTION | Pseudo-obstruction | Pseudo-obstruction (disorder) | Pseudo-obstruction (morphologic abnormality) | Pseudo-obstruction of gastrointestinal tract | Pseudo-obstruction, NOS | Pseudoobstruction | pseudo obstruction | pseudo-obstruction | pseudoobstruction OMIM2016_04_17:MTHU021750|SNOMEDCT_US_2016_09_01:197056004|SNOMEDCT_US_2016_09_01:27266007 C0153560 Kaposi's sarcoma of skin Cutaneous Kaposi Sarcoma | Cutaneous Kaposi's Sarcoma | KAPOSI SARCOMA CUTANEOUS | Kaposi sarcoma of skin | Kaposi's Sarcoma of Skin | Kaposi's Sarcoma of the Skin | Kaposi's sarcoma of skin | Kaposi's sarcoma of skin (diagnosis) | Kaposi's sarcoma of skin (disorder) | Kaposi's sarcoma, skin | Kaposi; sarcoma, skin | Skin Kaposi Sarcoma | Skin Kaposi's Sarcoma | cutaneous kaposi sarcoma | kaposi's sarcoma, cutaneous | sarcoma; Kaposi, skin NCI2016_02D:A Kaposi sarcoma arising from the skin. It presents with patches, plaques, or nodules. ICD10CM_2017:C46.0|ICD9CM_2014:176.0|SNOMEDCT_US_2016_09_01:109386008|SNOMEDCT_US_2016_09_01:188144002 C0870082 Hyperkeratosis Dermal hyperkeratosis | Excessive cornification | Excessive growth of horny tissue of the skin | HK - Hyperkeratosis | HYPERKERATOSES | HYPERKERATOSIS | Hyperkeratoses | Hyperkeratosis | Hyperkeratosis (disorder) | Hyperkeratosis (morphologic abnormality) | Hyperkeratosis NOS | Hyperkeratosis NOS (disorder) | Hyperkeratosis of skin | Hyperkeratosis of skin, NOS | Hyperkeratosis, NOS | Keratosis | Keratosis (disorder) | Keratosis, NOS | Stratum corneum thickened | Thickened stratum corneum | Thickening of stratum corneum | Tylosis | hyperkeratoses | hyperkeratosis | hyperkeratosis (diagnosis) | hyperkeratosis (physical finding) | hyperkeratosis of skin | keratosis | skin hyperkeratosis | skin texture hyperkeratosis CHV2011_02:skin thickening caused by excessive production of a protein called keratins | HPO2016_07_04:Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. [HPO:probinson] | NCI2016_02D:Hypertrophy of the outermost layer of the epidermis. It may be caused by physical or chemical irritants, irradiation, infection, or neoplastic processes. | NCI2016_CDISC_1602D:Thickening of the outermost layer of stratified squamous epithelium. | NCI2016_NCI-GLOSS_1602D:A condition marked by thickening of the outer layer of the skin, which is made of keratin (a tough, protective protein). It can result from normal use (corns, calluses), chronic inflammation (eczema), or genetic disorders (X-linked ichthyosis, ichthyosis vulgaris). HPO2016_07_04:HP:0000962|OMIM2016_04_17:MTHU001049|OMIM2016_04_17:MTHU016817|OMIM2016_04_17:MTHU039215|SNOMEDCT_US_2016_09_01:201053002|SNOMEDCT_US_2016_09_01:201059003|SNOMEDCT_US_2016_09_01:201105003|SNOMEDCT_US_2016_09_01:20637002|SNOMEDCT_US_2016_09_01:238623003|SNOMEDCT_US_2016_09_01:238624009|SNOMEDCT_US_2016_09_01:26996000|SNOMEDCT_US_2016_09_01:396228006|SNOMEDCT_US_2016_09_01:399955009 C4014767 Hyperlipoproteinemia, type id HYPERLIPOPROTEINEMIA, TYPE ID OMIM2016_04_17:612757|OMIM2016_04_17:615947 C3554129 Combined oxidative phosphorylation deficiency 13 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 | COXPD13 OMIM2016_04_17:610316|OMIM2016_04_17:614932 C1846439 Odontoid hypoplasia Hypoplasia of the odontoid process | Hypoplastic odontoid process | ODONTOID HYPOPLASIA | Odontoid Hypoplasia | Odontoid hypoplasia | Small odontoid peg | Small odontoid process HPO2016_07_04:Developmental hypoplasia of the dens of the axis. [HPO:probinson] | NCI2016_02D:An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations. HPO2016_07_04:HP:0003311|OMIM2016_04_17:613628|OMIM2016_04_17:MTHU003440|OMIM2016_04_17:MTHU011330 C1335170 Myxoid liposarcoma of ovary Myxoid Liposarcoma of Ovary | Myxoid Liposarcoma of the Ovary | Ovarian Myxoid Liposarcoma NCI2016_02D:A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma. C1855627 Haim-munk syndrome COCHIN JEWISH DISORDER | Cochin Jewish disorder | HAIM-MUNK SYNDROME | HMS | Haim-Munk syndrome | KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS | Keratosis palmoplantaris with periodontopathia and onychogryposis MSH2017_2016_08_12:C537627|OMIM2016_04_17:245010|OMIM2016_04_17:602365 C1384607 Food deprivation Deprivation of food | Deprivation of food (disorder) | Deprivation of food unspecif. | Deprivation of food, unspecified | Deprivation of food, unspecified (disorder) | Food deprivation | Food deprivation (disorder) | deprivation; food | food; deprivation ICD10CM_2017:T73.0|SNOMEDCT_US_2016_09_01:157741006|SNOMEDCT_US_2016_09_01:212967001|SNOMEDCT_US_2016_09_01:274210004|SNOMEDCT_US_2016_09_01:287519002|SNOMEDCT_US_2016_09_01:5224009 C0152255 Pinguecula Pinguecula | Pinguecula (disorder) | Pinguecula [Disease/Finding] | Pingueculas | Pingueculum | Pinguicula | pinguecula | pinguecula (diagnosis) | pingueculum | pinguicula MSH2017_2016_08_12:A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS. ICD10CM_2017:H11.15|ICD9CM_2014:372.51|MSH2017_2016_08_12:D059407|OMIM2016_04_17:MTHU020001|SNOMEDCT_US_2016_09_01:155169006|SNOMEDCT_US_2016_09_01:267735001|SNOMEDCT_US_2016_09_01:87614000 C3495551 Dihydropyrimidinuria DIHYDROPYRIMIDINURIA | Dihydropyrimidinuria | Dihydropyrimidinurias MSH2017_2016_08_12:D054067|OMIM2016_04_17:222748 C1276117 Episodic idiopathic urticaria Episodic idiopathic urticaria | Episodic idiopathic urticaria (disorder) | Recurrent idiopathic urticaria SNOMEDCT_US_2016_09_01:402381001 C4025208 Severe t-cell immunodeficiency Severe T-cell immunodeficiency HPO2016_07_04:HP:0005352 C1264013 Erythrocytosis due to cyanotic congenital heart disease Erythrocytosis due to cyanotic congenital heart disease | Erythrocytosis due to cyanotic congenital heart disease (disorder) SNOMEDCT_US_2016_09_01:127063008 C0017105 Clostridial myonecrosisDry mouth is the feeling that there is not enough saliva in your mouth. Everyone has a dry mouth once in a while - if they are nervous, upset or under stress. But if you have a dry mouth all or most of the time, it can be uncomfortable and can lead to serious health problems.
Symptoms of dry mouth include
Dry mouth is not a normal part of aging. Causes include some medicines, radiation therapy, chemotherapy, and nerve damage. Salivary gland diseases, Sjogren's syndrome, HIV/AIDS, and diabetes can also cause dry mouth. Treatment depends on the cause. Things you can do include sipping water, avoiding drinks with caffeine, tobacco, and alcohol, and chewing sugarless gum or sucking on sugarless hard candy.
NIH: National Institute of Dental and Craniofacial Research
| MSH2017_2016_08_12:Decreased salivary flow. | NCI2016_02D:Dryness of the oral mucosa secondary to a decrease in saliva production, or a change in saliva composition. | NCI2016_CTCAE_1602D:A disorder characterized by reduced salivary flow in the oral cavity. | NCI2016_NCI-GLOSS_1602D:Dry mouth. It occurs when the body is not able to make enough saliva. | NCI2016_NICHD_1602D:Dryness of the oral mucosa. HPO2016_07_04:HP:0000217|ICD10CM_2017:K11.7|MSH2017_2016_08_12:D014987|OMIM2016_04_17:MTHU036335|OMIM2016_04_17:MTHU036698|SNOMEDCT_US_2016_09_01:139281004|SNOMEDCT_US_2016_09_01:162014002|SNOMEDCT_US_2016_09_01:196513007|SNOMEDCT_US_2016_09_01:249425009|SNOMEDCT_US_2016_09_01:266425004|SNOMEDCT_US_2016_09_01:300268000|SNOMEDCT_US_2016_09_01:56893005|SNOMEDCT_US_2016_09_01:87715008 C1282371 Conjunctival lipodermoid Conjunctival lipodermoid | Conjunctival lipodermoid (disorder) SNOMEDCT_US_2016_09_01:314781005 C3889476 Benign familial convulsion Benign Familal Neonatal Seizures | Benign Familial Convulsion | Benign Familial Convulsions | Benign Familial Neonatal Seizures NCI2016_02D:A group of genetically-determined conditions characterized by a wide spectrum of seizure types occurring in otherwise healthy newborn infants that start during the first week of life and spontaneously disappear between the first and twelfth months of life. | NCI2016_NICHD_1602D:A group of genetically-determined conditions characterized by a wide spectrum of seizure type occurring in otherwise healthy newborn infants that start during the first week of life and spontaneously disappear between the first and twelfth months of life. C0029461 Osteoradionecroses Osteoradionecroses | Osteoradionecrosis | Osteoradionecrosis (disorder) | Osteoradionecrosis [Disease/Finding] | Radiation necrosis of bone | injury radiation osteoradionecrosis | osteoradionecrosis | osteoradionecrosis (diagnosis) MSH2017_2016_08_12:Necrosis of bone following radiation injury. | NCI2016_02D:Necrosis of bone following exposure to a source of radiation. MSH2017_2016_08_12:D010025|SNOMEDCT_US_2016_09_01:109333005 C0344307 Absence of pain sensation ANALGESIA | Absence of pain sensation | Absence of sensibility to pain | Anaesthesia to pain | Analgesia | Anesthesia to pain | Feels no pain | Insensitivity to pain | No sensitivity to pain | No sensitivity to pain (finding) | Pain insensitivity | absence of pain sensation | analgesia | pain anesthesia HPO2016_07_04:Inability to perceive painful stimuli. [HPO:probinson] | PSY2004:Pain insensitivity chemically or electrically induced or occurring as a natural phenomenon (e.g., Kiesow's area on the inner cheek). HPO2016_07_04:HP:0007021|OMIM2016_04_17:MTHU010568|OMIM2016_04_17:MTHU044588|SNOMEDCT_US_2016_09_01:38433004 C0751757 Hypersomnolence, idiopathic CNS Hypersomnolence, Idiopathic | CNS Hypersomnolences, Idiopathic | Hypersomnia, Idiopathic | Hypersomnias, Idiopathic | Hypersomnolence, CNS, Idiopathic | Hypersomnolence, Idiopathic | Hypersomnolence, Idiopathic CNS | Hypersomnolence, Idiopathic [Disease/Finding] | Hypersomnolences, Idiopathic | Hypersomnolences, Idiopathic CNS | Idiopathic CNS Hypersomnolence | Idiopathic CNS Hypersomnolences | Idiopathic Central Nervous System Hypersomnolence | Idiopathic Hypersomnia | Idiopathic Hypersomnias | Idiopathic Hypersomnolence | Idiopathic Hypersomnolences | Idiopathic central nervous system hypersomnolence | Idiopathic hypersomnia | Idiopathic hypersomnia (disorder) | Idiopathic hypersomnia NOS | idiopathic cns hypersomnolence | idiopathic hypersomnia | idiopathic hypersomnolence MSH2017_2016_08_12:A sleep disorder of central nervous system origin characterized by prolonged nocturnal sleep and periods of daytime drowsiness. Affected individuals experience difficulty with awakening in the morning and may have associated sleep drunkenness, automatic behaviors, and memory disturbances. This condition differs from narcolepsy in that daytime sleep periods are longer, there is no association with CATAPLEXY, and the multiple sleep latency onset test does not record sleep-onset rapid eye movement sleep. (From Chokroverty, Sleep Disorders Medicine, 1994, pp319-20; Psychiatry Clin Neurosci 1998 Apr:52(2):125-129) | NCI2016_02D:A rare sleep disorder characterized by prolonged sleep at night and extreme sleepiness during the day. There are no apparent causes. This disorder affects the ability to function. ICD10CM_2017:G47.11|MSH2017_2016_08_12:D020177|SNOMEDCT_US_2016_09_01:3731000119107 C3150682 Left ventricular noncompaction 4 LEFT VENTRICULAR NONCOMPACTION 4 | LVNC4 OMIM2016_04_17:102540|OMIM2016_04_17:613424 C0027639 Neoplasm of unspecified nature of bladder Bladder neoplasm unspec nature | Neoplasm of unspecified nature of bladder | Neoplasm of unspecified nature of bladder (disorder) ICD9CM_2014:239.4|SNOMEDCT_US_2016_09_01:189535002 C4021168 Slender toe Narrow toe | Slender toe HPO2016_07_04:Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. [pmid:19125433] HPO2016_07_04:HP:0011308 C0392622 Toxic effect of carbon tetrachloride CARBON TETRACHLORIDE POISONING | CCl4 Poisoning | CCl4 Poisonings | Carbon Tetrachloride Poisoning | Carbon Tetrachloride Poisoning [Disease/Finding] | Carbon Tetrachloride Poisonings | Carbon tetrachloride causing toxic effect | Carbon tetrachloride poisoning | PERCHLOROMETHANE TOXICITY | Poisoning, CCl4 | Poisoning, Carbon Tetrachloride | Poisonings, Carbon Tetrachloride | Toxic effect of carbon tetrachloride | Toxic effect of carbon tetrachloride (disorder) | Toxic effects of carbon tetrachloride | Toxic effects of carbon tetrachloride NOS | carbon tetrachloride poisoning | poisoning by carbon tetrachloride vapors | poisoning by carbon tetrachloride vapors (diagnosis) | poisoning solvents carbon tetrachloride | poisoning solvents carbon tetrachloride (diagnosis) CSP2006:inhalation of vapors, ingestion, or skin absorption of carbon tetrachloride can depress central nervous system activity and cause degeneration of the liver and kidneys. | MSH2017_2016_08_12:Poisoning that results from ingestion, injection, inhalation, or skin absorption of CARBON TETRACHLORIDE. ICD10CM_2017:T53.0|ICD10CM_2017:T53.0X|ICD10CM_2017:T53.0X1|ICD9CM_2014:982.1|MSH2017_2016_08_12:D002252|SNOMEDCT_US_2016_09_01:16464001 C4013648 Polymicrogyria, bilateral temporooccipital BTOP | POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL OMIM2016_04_17:612691 C0154260 Disorders of mineral metabolism DISORDERS OF MINERAL METABOLISM | DISORDERS OF MINERAL METABOLISM: GENERAL TERMS | Disorder of mineral metabolism | Disorder of mineral metabolism (disorder) | Disorder of mineral metabolism NOS | Disorder of mineral metabolism NOS (disorder) | Disorder of mineral metabolism, NOS | Disorder of mineral metabolism, unspecified | Disorders of mineral metabolism | Mineral metabolic disorder NOS | Mineral metabolism disorder | Mineral metabolism disorder NOS | Unspecified disorder of mineral metabolism | disorders of mineral metabolism | metabolic disorder; mineral | mineral metabolism disorder | mineral metabolism disorder (diagnosis) | mineral; metabolic disorder ICD10CM_2017:E83|ICD10CM_2017:E83.9|ICD9CM_2014:275|ICD9CM_2014:275.9|SNOMEDCT_US_2016_09_01:190877000|SNOMEDCT_US_2016_09_01:45744005 C0342883 Cholesteryl ester transfer protein deficiency CETP Deficiency | Cholesteryl Ester Transfer Protein Deficiency | Cholesteryl ester transfer protein deficiency | High blood hdl level | Hyperalphalipoproteinaemia | Hyperalphalipoproteinemia | Hyperalphalipoproteinemia (disorder) | hyperalphalipoproteinemia (diagnosis) HPO2016_07_04:An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. [HPO:probinson] HPO2016_07_04:HP:0012184|MSH2017_2016_08_12:C564591|OMIM2016_04_17:MTHU003506|SNOMEDCT_US_2016_09_01:238080004 C0376618 Endotoxemia Endotoxaemia | Endotoxemia | Endotoxemia (disorder) | Endotoxemia [Disease/Finding] | Endotoxemias | endotoxaemia | endotoxemia MSH2017_2016_08_12:A condition characterized by the presence of ENDOTOXINS in the blood. On lysis, the outer cell wall of gram-negative bacteria enters the systemic circulation and initiates a pathophysiologic cascade of pro-inflammatory mediators. MSH2017_2016_08_12:D019446|SNOMEDCT_US_2016_09_01:371770009|SNOMEDCT_US_2016_09_01:82042006 C3827194 Glioblastoma by gene expression profile Glioblastoma by Gene Expression Profile NCI2016_02D:Classification of glioblastoma into molecular subtypes as defined by gene expression profiling. C2718017 Tdp-43 proteinopathies Proteinopathies, TDP-43 | Proteinopathy, TDP-43 | TDP 43 Proteinopathies | TDP-43 Proteinopathies | TDP-43 Proteinopathies [Disease/Finding] | TDP-43 Proteinopathy MSH2017_2016_08_12:Diseases characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease. MSH2017_2016_08_12:D057177 C0432267 Tricho thiodystrophy disorder IBIDS (ichthyosis-brittle hair-impaired intelligence-decreased fertility-short stature) syndrome | IBIDS Syndrome | IBIDS Syndromes | Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation | Ichthyosiform erythroderma with hair abnormality, mental and growth retardation | Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature | PIBI(D)S [photosensitivity-ichthyosis-brittle hair-impaired intelligence-(possibly decreased fertility)-short stature] syndrome | Recessive congenital ichthyosiform erythroderma | Recessive congenital ichthyosiform erythroderma (disorder) | Recessive congenital ichthyosiform erythroderma (disorder) [Ambiguous] | Tay Syndrome | Tay syndrome | Tricho-thiodystrophy | Tricho-thiodystrophy (disorder) | Tricho-thiodystrophy disorder | Trichothiodystrophy with Congenital Ichtyosis | congenital ichthyosis-trichodystrophy syndrome | ichthyosiform erythroderma-hair abnormality-mental and growth retardation syndrome | sulfur-deficient brittle hair syndrome | syndrome tay | syndrome tays | tay syndrome | trichothiodystrophy 2 | trichothiodystrophy 2 (TTD 2) | trichothiodystrophy-congenital ichthyosis syndrome | trichothiodystrophy-xeroderma pigmentosum syndrome JABL99:A syndrome of trichothiodystrophy (sulfur-deficient brittle hair) with photosensitivity, ichthyosiform erythroderma, progeria-like facies, growth and mental retardation, occasional infertility, and variable other defects. When photosensitivity is present, the syndrome is known as PIBIDS or PIBI(D)S; without photosensitivity it is referred to as IBIDS. Syndromes which have brittle hair, impaired intelligence, decreased fertility, and short stature, but no ichthyosis, are referred to as BIDS (see Amish brittle hair syndrome). MSH2017_2016_08_12:D054463|SNOMEDCT_US_2016_09_01:12215009|SNOMEDCT_US_2016_09_01:254128006 C0037047 Sibling Sib | Sibling | Sibling (person) | Sibling, NOS | Siblings | sibling CSP2006:one of two or more offspring of either sex from the same mother or father; includes sister, brother, half-sister, half-brother. | HL7V3.0_2015_07:One person who shares a parent or parents with another.
| HL7V3.0_2015_07:The player of the role shares one or both parents in common with the scoping entity.
| MSH2017_2016_08_12:Persons or animals having at least one parent in common. (American College Dictionary, 3d ed) | MSHNOR2016:Personar eller dyr som har minst ein forelder felles. | NCI2016_02D:A person's brother or sister. | NCI2016_NCI-GLOSS_1602D:A person's brother or sister who has the same parents. MSH2017_2016_08_12:D035781|SNOMEDCT_US_2016_09_01:375005|SNOMEDCT_US_2016_09_01:393498007|SNOMEDCT_US_2016_09_01:394448004|SNOMEDCT_US_2016_09_01:394620007 C0152180 Accessory nerve diseases Accessory Nerve Disease | Accessory Nerve Diseases | Accessory Nerve Diseases [Disease/Finding] | Accessory Nerve Disorder | Accessory nerve disorder | Accessory nerve disorder NOS | Accessory nerve disorders | Accessory nerve lesion | Cranial Nerve Eleven Diseases | Cranial Nerve Eleven Disorders | Cranial Nerve XI Diseases | Disorder of 11th Nerve | Disorder of accessory nerve | Disorder of accessory nerve (diagnosis) | Disorder of accessory nerve (disorder) | Disorder of accessory nerve, NOS | Disorder of cranial nerve 11 | Disorder of the 11th Nerve | Disorder of the eleventh cranial nerve | Disorder of the eleventh cranial nerve, NOS | Disorders of 11th nerve | Disorders of accessory (11th) nerve | Disorders of accessory [11th] nerve | Disorders of accessory nerve | Disorders of the XIth cranial nerve | Disorders of the eleventh cranial nerve | Eleventh Cranial Nerve Disease | Eleventh Nerve Disorder | Eleventh cranial nerve disease or syndrome | Eleventh cranial nerve disorder | Spinal Accessory Nerve Diseases | Spinal accessory nerve disease or syndrome | Spinal accessory nerve disorder | accessory nerve diseases | accessory nerve lesion | cranial nerve; disorder eleventh (accessory) | disease (or disorder); cranial nerve, eleventh (accessory) | disease (or disorder); nerve, accessory | disorder accessory nerve | n.accessorius; disorder MSH2017_2016_08_12:Diseases of the eleventh cranial (spinal accessory) nerve. This nerve originates from motor neurons in the lower medulla (accessory portion of nerve) and upper spinal cord (spinal portion of nerve). The two components of the nerve join and exit the skull via the jugular foramen, innervating the sternocleidomastoid and trapezius muscles, which become weak or paralyzed if the nerve is injured. The nerve is commonly involved in MOTOR NEURON DISEASE, and may be injured by trauma to the posterior triangle of the neck. | NCI2016_02D:A non-neoplastic or neoplastic disorder affecting the accessory nerve (eleventh cranial nerve). | NCI2016_CTCAE_1602D:A disorder characterized by involvement of the accessory nerve (eleventh cranial nerve). ICD9CM_2014:352.4|MSH2017_2016_08_12:D020436|SNOMEDCT_US_2016_09_01:84759007 C1846423 Thick upper lip vermilion Full upper lip | Full upper lip vermilion | Increased height of upper lip vermilion | Increased volume of upper lip | Increased volume of upper lip vermilion | Plump upper lip | Prominent upper lip | Prominent upper lip vermilion | Thick red part of the upper lip | Thick upper lip | Thick upper lip vermilion | Thick vermilion border of upper lip HPO2016_07_04:Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). [pmid:19125428] HPO2016_07_04:HP:0000215|OMIM2016_04_17:MTHU003424 C0024003 Lordosis Hollow back | Hyperlordosis | Hyperlordotic | LORDOSIS | Lordosis | Lordosis [Disease/Finding] | Lordosis accentuated | Lordosis accentuated (finding) | Lordosis deformity of spine | Lordosis deformity of spine (disorder) | Lordosis, NOS | Lordosis, unspecified | Prominent swayback | Saddle back | Swayback | Unspecified lordosis | [X]Lordosis, unspecified | [X]Lordosis, unspecified (disorder) | accentuate lordosis | deformity; saddle back | hyperlordotic | lordosis | lordosis (diagnosis) | saddle back | swayback HPO2016_07_04:Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine. [HPO:probinson] | MSH2017_2016_08_12:The anterior concavity in the curvature of the lumbar and cervical spine as viewed from the side. The term usually refers to abnormally increased curvature (hollow back, saddle back, swayback). It does not include lordosis as normal mating posture in certain animals ( = POSTURE + SEX BEHAVIOR, ANIMAL). | NCI2016_02D:Abnormally increased curvature of the lumbar portion of the spinal column. | NCI2016_CDISC_1602D:Increased dorsal convexity in the curvature of the spinal column as viewed from the side. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) | NCI2016_CTCAE_1602D:A disorder characterized by an abnormal increase in the curvature of the lumbar portion of the spine. | NCI2016_NICHD_1602D:Abnormally increased curvature of the cervical or lumbar portion of the spine. HPO2016_07_04:HP:0003307|ICD10CM_2017:M40.5|MSH2017_2016_08_12:D008141|OMIM2016_04_17:MTHU003604|OMIM2016_04_17:MTHU003664|SNOMEDCT_US_2016_09_01:203666008|SNOMEDCT_US_2016_09_01:203808008|SNOMEDCT_US_2016_09_01:249710008|SNOMEDCT_US_2016_09_01:61960001 C1864851 Pigmented nodular adrenocortical disease, primary, 2 CUSHING SYNDROME, ADRENAL, DUE TO PPNAD2 | Cushing Syndrome, Adrenal, Due To PPNAD2 | PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 | PPNAD2 | Pigmented Micronodular Adrenocortical Disease, Primary, 2 | Pigmented Nodular Adrenocortical Disease, Primary, 2 MSH2017_2016_08_12:C566472|OMIM2016_04_17:604961|OMIM2016_04_17:610475 C0238448 Testicular embryonal carcinoma Embryonal Carcinoma of Testis | Embryonal Carcinoma of the Testis | TESTICULAR CANCER, EMBRYONAL CARCINOMA | TESTIS, CARCINOMA, EMBRYONAL | Testicular Embryonal Carcinoma | Testicular embryonal carcinoma | Testicular embryonal carcinoma NOS | embryonal carcinoma of testis | embryonal carcinoma of testis (diagnosis) | embryonal carcinoma of the testis | embryonal carcinoma, testicular | testicle cancer, embryonal | testicular cancer, embryonal | testicular embryonal carcinoma | testis cancer, embryonal NCI2016_02D:A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent. C1849649 Holoprosencephaly polydactyly syndrome HOLOPROSENCEPHALY-POLYDACTYLY SYNDROME | Holoprosencephaly and postaxial polydactyly syndrome | Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Holoprosencephaly polydactyly syndrome | Holoprosencephaly-Polydactyly Syndrome | PSEUDOTRISOMY 13 SYNDROME | Pseudo trisomy 13 syndrome | Pseudotrisomy 13 Syndrome | Pseudotrisomy 13 syndrome NCI2016_02D:A rare syndrome likely inherited in an autosomal recessive pattern. It is characterized by holoprosencephaly, polydactyly, phenotypic features reminiscent of trisomy 13, and normal karyotype. | SNOMEDCT_US_2016_09_01:Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Incidence is unknown. Dysmorphic features include hypotelorism, severe eye anomalies such as microphthalmia or anophthalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor. MSH2017_2016_08_12:C535829|OMIM2016_04_17:264480|SNOMEDCT_US_2016_09_01:716091000 C1852456 Cryoglobulinemia, familial mixed CRYOGLOBULINEMIA, FAMILIAL MIXED | Cryoglobulinemia, Familial Mixed | MELTZER SYNDROME | Meltzer Syndrome MSH2017_2016_08_12:C565141|OMIM2016_04_17:123550 C0268335 Ehlers-danlos syndrome type 1 Cutis hyperelastica I, gravis type | Ehlers-Danlos Syndrome, Severe Classic Type | Ehlers-Danlos Syndrome, Type I | Ehlers-Danlos syndrome type 1 | Ehlers-Danlos syndrome type I | Ehlers-Danlos syndrome, Gravis type | Ehlers-Danlos syndrome, classic severe form | Ehlers-Danlos syndrome, gravis | Ehlers-Danlos syndrome, severe classic form | Ehlers-Danlos syndrome, type 1 | Ehlers-Danlos syndrome, type 1 (disorder) | Ehlers-Danlos syndrome, type I | Ehlers-Danlos syndrome, type I (diagnosis) | type I Ehlers-Danlos syndrome NCI2016_02D:Ehlers-Danlos syndrome, type I belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene. MSH2017_2016_08_12:C536194|SNOMEDCT_US_2016_09_01:83470009 C0855053 Extraskeletal osteosarcoma, recurrent Extraskeletal Osteosarcoma, Recurrent | Extraskeletal osteosarcoma recurrent | Recurrent Extraosseous Osteosarcoma | Recurrent Extraskeletal Osteogenic Sarcoma | Recurrent Extraskeletal Osteosarcoma | Relapsed Extraskeletal Osteogenic Sarcoma | Relapsed Extraskeletal Osteosarcoma NCI2016_02D:The reemergence of extraskeletal osteosarcoma after a period of remission. C0392492 Chronic periodontitis apical Asymptomatic periapical periodontitis | Asymptomatic periapical periodontitis (disorder) | Chronic apical periodont. NOS | Chronic apical periodontitis | Chronic apical periodontitis (disorder) | Chronic apical periodontitis NOS | Chronic apical periodontitis NOS (disorder) | chronic apical periodontitis | chronic apical periodontitis (diagnosis) | chronic periodontitis apical ICD10CM_2017:K04.5|ICD9CM_2014:522.6|SNOMEDCT_US_2016_09_01:196343008|SNOMEDCT_US_2016_09_01:196345001|SNOMEDCT_US_2016_09_01:718052004|SNOMEDCT_US_2016_09_01:87782002 C0079301 Junctional epidermolysis bullosa Congenital junctional epidermolysis bullosa | Congenital junctional epidermolysis bullosa (disorder) | EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE | EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL | EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN | Epidermolysis Bullosa Junctionalis, Disentis Type | Epidermolysis Bullosa Junctionalis, Severe Nonlethal | Epidermolysis Bullosa, Generalized Atrophic Benign | Epidermolysis Bullosa, Junctional | Epidermolysis Bullosa, Junctional [Disease/Finding] | Epidermolysis bullosa junctional | Epidermolysis bullosa junctionalis, Disentis type | GABEB | Junctional Epidermolysis Bullosa | Junctional epidermolysis bullosa | Junctional epidermolysis bullosa (disorder) | Junctional epidermolysis bullosa, NOS | epidermolysis bullosa junctional | junctional epidermolysis bullosa MSH2017_2016_08_12:Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane. | NCI2016_02D:Epidermolysis bullosa characterized by separation of the skin through the lamina lucida resulting in blister formation. It includes lethal and non-lethal variants. MSH2017_2016_08_12:D016109|OMIM2016_04_17:226650|OMIM2016_04_17:MTHU023388|SNOMEDCT_US_2016_09_01:33662006|SNOMEDCT_US_2016_09_01:399971009|SNOMEDCT_US_2016_09_01:76905008|SNOMEDCT_US_2016_09_01:79855003 C0432264 Axial osteosclerosis AXIAL OSTEOSCLEROSIS | Axial osteosclerosis | Axial osteosclerosis (disorder) | OSTEOMESOPYKNOSIS | Osteomesopyknosis MSH2017_2016_08_12:C537792|OMIM2016_04_17:166450|SNOMEDCT_US_2016_09_01:254125009 C0014534 Epididymitis EPIDIDYMITIS | Epididymis inflamed | Epididymitides | Epididymitis | Epididymitis (disorder) | Epididymitis NOS | Epididymitis NOS (disorder) | Epididymitis [Disease/Finding] | Epididymitis unspecified | Epididymitis unspecified (disorder) | Epididymitis, NOS | Inflammation of epididymis | epididymis; inflammation | epididymitis | epididymitis (diagnosis) | inflammation; epididymis CSP2006:inflammation of the epididymis, convoluted cordlike structure attached to the posterior of the testis. | HPO2016_07_04:The presence of inflammation of the epididymis. [HPO:probinson] | MSH2017_2016_08_12:Inflammation of the EPIDIDYMIS. Its clinical features include enlarged epididymis, a swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD. HPO2016_07_04:HP:0000031|ICD10CM_2017:N45.1|MSH2017_2016_08_12:D004823|OMIM2016_04_17:MTHU038084|SNOMEDCT_US_2016_09_01:155914009|SNOMEDCT_US_2016_09_01:197993007|SNOMEDCT_US_2016_09_01:197998003|SNOMEDCT_US_2016_09_01:31070006 C0456801 Ppv - peripheral positional vertigo PPV - Peripheral positional vertigo | Peripheral positional vertigo | Peripheral positional vertigo (disorder) SNOMEDCT_US_2016_09_01:277491009 C0036089 Calculi duct salivary Calculi, Salivary Duct | Calculus in salivary duct | Calculus of salivary duct | Calculus salivary duct | Calculus, Salivary Duct | Duct Calculi, Salivary | Duct Calculus, Salivary | Duct Stone, Salivary | Duct Stones, Salivary | PAROTID DUCT CALCULI | Parotid Duct Calculi | SALIVARY DUCT CALCULI | SUBMANDIBULAR DUCT CALCULI | Salivary Duct Calculi | Salivary Duct Calculi [Disease/Finding] | Salivary Duct Calculus | Salivary Duct Stone | Salivary Duct Stones | Salivary duct calculus | Sialodocholithiasis | Sialodocholithiasis (disorder) | Sialodocholithiasis NOS | Sialodocholithiasis NOS (disorder) | Sialolithiases, Ductal | Sialolithiasis, Ductal | Stone of salivary duct | Stone, Salivary Duct | Stones, Salivary Duct | Submandibular Duct Calculi | Wharton; calculus | calculi duct salivary | calculus of salivary duct | calculus of salivary duct (diagnosis) | calculus; Wharton | calculus; submandibular duct | duct salivary stone | salivary duct calculi | salivary duct stone | salivary duct stones | salivary duct; calculus | sialodocholithiasis MSH2017_2016_08_12:Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts. MSH2017_2016_08_12:D012465|OMIM2016_04_17:181010|SNOMEDCT_US_2016_09_01:196506007|SNOMEDCT_US_2016_09_01:80567007 C0340853 Vasovagal syncope due to immersion Vasovagal syncope due to immersion | Vasovagal syncope due to immersion (disorder) SNOMEDCT_US_2016_09_01:234166002 C0018818 Ventricular septal defects Congenital ventricular septal defect | DEFECT INTERVENTRICULAR SEPTUM | Defect interventricular septum | Defect, Intraventricular Septal | Defect, Ventricular Septal | Defect;ventricular septal | Defects, Intraventricular Septal | Heart Septal Defects, Ventricular | Heart Septal Defects, Ventricular [Disease/Finding] | Interventricular septal defect | Interventricular septal defect (disorder) | Intraventricular Septal Defect | Intraventricular Septal Defects | SEPTUM INTERVENTRICULAR PATENT | Septal Defect, Intraventricular | Septal Defect, Ventricular | Septal Defects, Intraventricular | Septal Defects, Ventricular | Septal def.-ventricular | Septum interventricular patent | VENTRICULAR SEPTAL DEFECT | VENTRICULAR SEPTAL DEFECT CONGENITAL | VSD | VSD (ventricular septal defect) | VSD - Ventricular septal defect | Ventricular Septal Defect | Ventricular Septal Defect (VSD) | Ventricular Septal Defects | Ventricular septal abnormality | Ventricular septal abnormality (disorder) | Ventricular septal def. | Ventricular septal defect | Ventricular septal defect (VSD) | Ventricular septal defect (disorder) | Ventricular septal defect NOS | Ventricular septal defect NOS (disorder) | Ventricular septal defect unsp | Ventricular septal defect, unspecified | Ventricular septal defect, unspecified (disorder) | Ventricular septal defects | Ventriculoseptal defect | anomaly; heart, septum, ventricular | closure; incomplete, septum, interventricular | closure; incomplete, septum, ventricular | defect; interventricular septal | defect; septum, ventricular | defect; ventricular septal | heart; anomaly, septum, ventricular | incomplete; closure, septum, interventricular | incomplete; closure, septum, ventricular | interventricular septal defect | interventricular septal; defect | septum; defect, ventricular | ventricular septal abnormality (diagnosis) | ventricular septal defect | ventricular septal defect (diagnosis) | ventricular septal defects | ventricular; septal defect | vsd HPO2016_07_04:A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. [HPO:curators] | MSH2017_2016_08_12:Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. | NCI2016_02D:The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired. | NCI2016_NICHD_1602D:The presence of a defect (opening) in the septum that separates the two ventricles of the heart. The VSD can be congenital or acquired. HPO2016_07_04:HP:0001629|ICD10CM_2017:Q21.0|ICD9CM_2014:745.4|MSH2017_2016_08_12:D006345|OMIM2016_04_17:MTHU036338|OMIM2016_04_17:MTHU036913|OMIM2016_04_17:MTHU037811|SNOMEDCT_US_2016_09_01:156914003|SNOMEDCT_US_2016_09_01:204309000|SNOMEDCT_US_2016_09_01:204310005|SNOMEDCT_US_2016_09_01:204314001|SNOMEDCT_US_2016_09_01:253549006|SNOMEDCT_US_2016_09_01:270547008|SNOMEDCT_US_2016_09_01:30288003 C1857074 Absent sternal ossification Absent sternal mineralization | Absent sternal ossification | Lack of sternal ossification HPO2016_07_04:Lack of formation of mineralized bony tissue of the sternum. [HPO:probinson] HPO2016_07_04:HP:0006628|OMIM2016_04_17:MTHU013259|OMIM2016_04_17:MTHU013800|OMIM2016_04_17:MTHU019164 C0342613 Danish type familial amyloid cardiomyopathy Danish type amyloidosis | Danish type familial amyloid cardiomyopathy | Danish type familial amyloid cardiomyopathy (disorder) | Denmark type amyloidosis | Familial amyloid cardiomyopathy | Familial amyloid heart disease | Familial amyloid heart disease, 111 Met-for-Leu SNOMEDCT_US_2016_09_01:27097002 C1865918 Restrictive ophthalmoplegia Restrictive external ophthalmoplegia | Restrictive ophthalmoplegia HPO2016_07_04:Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. [HPO:probinson] HPO2016_07_04:HP:0007936|OMIM2016_04_17:MTHU005604 C0041663 Underachievement Underachievement | Underachievements MSH2017_2016_08_12:Performance, usually in school work, poorer than that predicted from aptitude and/or intelligence testing. MSH2017_2016_08_12:D014477 C0877326 Bone infarction BONE INFARCT | Bone Infarction | Bone infarction | bone infarct | bone infarction | bone infarcts NCI2016_02D:Ischemic necrosis of the bone tissue and the marrow. HPO2016_07_04:HP:0010885 C4020768 Abnormal ossification involving bones of the feet Abnormal ossification involving bones of the feet HPO2016_07_04:HP:0010675 C1867864 Poor fine motor coordination Poor fine motor coordination HPO2016_07_04:HP:0007010|OMIM2016_04_17:MTHU015979 C1843792 Frontotemporal lobar degeneration with tdp43 inclusions, grn-related DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION | FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED | FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE | FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED | FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS | FTDU | FTLD-TDP, GRN-RELATED | FTLDU | HDDD OMIM2016_04_17:607485 C2930962 Fried goldberg mundel syndrome Fried Goldberg Mundel syndrome MSH2017_2016_08_12:C535640 C1609538 Latent tuberculosis Inactive tuberculosis | Inactive tuberculosis (disorder) | Infection, Latent Tuberculosis | Infections, Latent Tuberculosis | LTBI - Latent tuberculosis infection | Latent Tuberculoses | Latent Tuberculosis | Latent Tuberculosis Infection | Latent Tuberculosis Infections | Latent Tuberculosis [Disease/Finding] | Latent tuberculosis | TUBERCULOSIS INACTIVE | Tuberculoses, Latent | Tuberculosis Infection, Latent | Tuberculosis Infections, Latent | Tuberculosis infection latent | Tuberculosis, Latent | latent TB | latent tuberculosis | latent tuberculosis (diagnosis) MSH2017_2016_08_12:The dormant form of TUBERCULOSIS where the person shows no obvious symptoms and no sign of the causative agent (Mycobacterium tuberculosis) in the SPUTUM despite being positive for tuberculosis infection skin test. MSH2017_2016_08_12:D055985|SNOMEDCT_US_2016_09_01:11999007 C0862432 Stage iv bladder urothelial carcinoma Bladder transitional cell carcinoma stage IV | Stage IV Bladder Urothelial Carcinoma | Stage IV Bladder Urothelial Carcinoma AJCC v7 | Stage IV Transitional Cell Carcinoma of Bladder | Stage IV Transitional Cell Carcinoma of Urinary Bladder | Stage IV Transitional Cell Carcinoma of the Bladder | Stage IV Transitional Cell Carcinoma of the Urinary Bladder | Stage IV Urinary Bladder Transitional Cell Carcinoma | Transitional cell carcinoma of the bladder stage IV | Urothelial carcinoma bladder stage IV NCI2016_02D:Stage IV includes: (T4b, N0, M0); (Any T, N1-3, M0); (Any T, Any N, M1). T4b: Tumor invades pelvic wall, abdominal wall. N0: No regional lymph node metastasis. N1: Single regional lymph node metastasis in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node). N2: Multiple regional lymph node metastases in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node metastasis). N3: Metastasis to the common iliac lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.) C1956390 Cranial arteritis Arteritides, Cranial | Arteritis, Cranial | CRANIAL ARTERITIS | Cranial Arteritides | Cranial Arteritis | Cranial arteritis | arteritis cranial | cranial arteritis | cranial arteritis (diagnosis) MSH2017_2016_08_12:D013700|SNOMEDCT_US_2016_09_01:400130008|SNOMEDCT_US_2016_09_01:87511001 C0155084 Neurotrophic keratoconjunctiv. Neurotrophic keratoconjunctiv. | Neurotrophic keratoconjunctivitis | Neurotrophic keratoconjunctivitis (disorder) | keratoconjunctivitis; neurotrophic | neurotrophic keratoconjunctivitis | neurotrophic keratoconjunctivitis (diagnosis) | neurotrophic; keratoconjunctivitis ICD10CM_2017:H16.23|ICD9CM_2014:370.35|SNOMEDCT_US_2016_09_01:193777005|SNOMEDCT_US_2016_09_01:77080005 C4024788 Anterior chamber synechiae Anterior chamber synechiae HPO2016_07_04:HP:0007833 C3711850 Opticospinal multiple sclerosis Optic-Spinal MS | Optic-Spinal Multiple Sclerosis | Opticospinal MS | Opticospinal Multiple Sclerosis MSH2017_2016_08_12:C580329 C0278545 Stage iii rectal cancer ajcc v6 AJCC Stage III Rectal Cancer v6 | Carcinoma of rectum stage III | Carcinoma rectum stage III | Dukes C Carcinoma of Rectum | Dukes C Carcinoma of the Rectum | Dukes C Rectal Carcinoma | Dukes C rectal cancer | Rectal Cancer Stage III AJCC v6 | Rectal cancer Duke's C | Rectal cancer stage III | Rectal carcinoma stage III | Stage III Carcinoma of Rectum AJCC v6 | Stage III Carcinoma of the Rectum AJCC v6 | Stage III Rectal Cancer AJCC v6 | Stage III Rectal Carcinoma AJCC v6 | rectal cancer, Dukes C | rectal cancer, stage III | rectum cancer, Dukes C | rectum cancer, stage III | stage III rectal cancer | stage III rectum cancer NCI2016_02D:Stage III includes: IIIA (T1-T2, N0, M0); IIIB (T3-T4, N1, M0); IIIC (Any T, N2, M0). N1: Metastasis in 1 to 3 regional lymph nodes. N2: Metastasis in 4 or more regional lymph nodes. (AJCC 6th ed.) - 2003 C0349565 Breast lipoma Breast Lipoma | Lipoma of Breast | Lipoma of breast | Lipoma of breast (disorder) | Lipoma of the Breast | breast lipoma | breast lipomas NCI2016_02D:A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent. SNOMEDCT_US_2016_09_01:276891009 C4025603 Glutaric acidemia Glutaric acidemia HPO2016_07_04:An increased concentration of glutaric acid in the blood. [HPO:gcarletti] HPO2016_07_04:HP:0003530 C1847515 Abnormal eye movements, paroxysmal Abnormal eye movements, paroxysmal | Paroxysmal involuntary eye movements HPO2016_07_04:Sudden-onset episode of abnormal, involuntary eye movements. [HPO:probinson] HPO2016_07_04:HP:0007704|OMIM2016_04_17:MTHU003854 C0029810 Other spec. iron defic.anemia Other spec iron def. anaem NOS | Other spec. iron defic.anaemia | Other spec. iron defic.anemia | Other specified iron deficiency anaemia | Other specified iron deficiency anaemia NOS | Other specified iron deficiency anemia | Other specified iron deficiency anemia (disorder) | Other specified iron deficiency anemia NOS | Other specified iron deficiency anemia NOS (disorder) | Other specified iron deficiency anemias ICD9CM_2014:280.8|SNOMEDCT_US_2016_09_01:191129007|SNOMEDCT_US_2016_09_01:191131003|SNOMEDCT_US_2016_09_01:267514001 C1399870 Hydrocolpos Hydrocolpos | Hydrocolpos [Disease/Finding] | hydrocolpos HPO2016_07_04:Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction. [] {name="UToronto:chum"} | MSH2017_2016_08_12:A fluid-filled VAGINA that is obstructed. HPO2016_07_04:HP:0030711|MSH2017_2016_08_12:D052202 C1857298 Aughton syndrome Aughton syndrome | DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA | Dextrocardia with unusual facies and microphthalmia | Dextrocardia, microphthalmia, cleft palate, and mental retardation MSH2017_2016_08_12:C538269|OMIM2016_04_17:221950 C3809798 Corneal dystrophy, fuchs endothelial, 8 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 | FECD8 OMIM2016_04_17:615496|OMIM2016_04_17:615523 C1336482 Stage i small cell carcinoma of lung Stage I Small Cell Carcinoma of Lung | Stage I Small Cell Carcinoma of the Lung | Stage I Small Cell Lung Cancer | Stage I Small Cell Lung Carcinoma | Stage I Small Cell Lung Carcinoma AJCC v7 NCI2016_02D:Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less n greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.) C1299628 Cerebral; paralysis, paraplegic Paraplegic cerebral palsy | Paraplegic cerebral palsy (disorder) | cerebral; paralysis, paraplegic | paralysis; cerebral, paraplegic | paraplegic cerebral palsy | paraplegic cerebral palsy (diagnosis) SCTSPA_2016_04_30:Una forma de par谩lisis cerebral esp谩stica que afecta a la mitad inferior del cuerpo, incluidas ambas piernas. | SNOMEDCT_US_2016_09_01:A form of spastic cerebral palsy affecting the lower half of the body, including both legs. SNOMEDCT_US_2016_09_01:371079004 C0018128 Graft occlusion, vascular Graft Occlusion, Vascular | Graft Occlusion, Vascular [Disease/Finding] | Graft Restenoses, Vascular | Graft Restenosis, Vascular | Occlusion, Vascular Graft | Restenosis, Vascular Graft | Vascular Graft Occlusion | Vascular Graft Restenosis | Vascular graft occlusion | Vascular graft occlusion (disorder) | Vascular graft restenosis MSH2017_2016_08_12:Obstruction of flow in biological or prosthetic vascular grafts. MSH2017_2016_08_12:D006083|SNOMEDCT_US_2016_09_01:234191002 C3808039 Nemaline rods Nemaline bodies | Nemaline rods HPO2016_07_04:Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. [HPO:curators, PMID:11333380] HPO2016_07_04:HP:0003798|OMIM2016_04_17:MTHU043020 C1865643 Cholestasis, progressive familial intrahepatic 3 Abcb4-Related Intrahepatic Cholestasis | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH ELEVATED SERUM GAMMA-GLUTAMYLTRANSFERASE | Cholestasis, Progressive Familial Intrahepatic, 3 | Cholestasis, Progressive Familial Intrahepatic, with Elevated Serum Gamma-Glutamyltransferase | Cholestasis, progressive familial intrahepatic 3 | Low gamma-GT Familial Intrahepatic Cholestasis | MDR3 DEFICIENCY | MDR3 Deficiency | PFIC3 | Progressive Familial Intrahepatic Cholestasis 3 (PFIC 3) | Progressive Familial Intrahepatic Cholestasis 3 (PFIC3) | Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase MSH2017_2016_08_12:C535935|OMIM2016_04_17:171060|OMIM2016_04_17:602347 C1333472 Adenocarcinoma of ethmoid sinus Adenocarcinoma of Ethmoid Sinus | Adenocarcinoma of the Ethmoid Sinus | Ethmoid Sinus Adenocarcinoma NCI2016_02D:An adenocarcinoma that arises from the ethmoid sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs. C1510502 Oxyphilic adenoma Adenoma, Oxyphilic | Adenoma, Oxyphilic [Disease/Finding] | Follicular adenoma, oxyphilic cell | ONCOCYTOMA | Oncocytic Adenoma | Oncocytic adenoma | Oncocytoma | Oxyphil adenoma | Oxyphilic Adenoma | Oxyphilic adenoma | Oxyphilic adenoma (morphologic abnormality) MSH2017_2016_08_12:A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells. | NCI2016_02D:A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland. MSH2017_2016_08_12:D018249|OMIM2016_04_17:516006|OMIM2016_04_17:553000|SNOMEDCT_US_2016_09_01:89439007 C4280321 Decreased projection of midface Decreased projection of midface HPO2016_07_04:HP:0011800 C0029089 Ophthalmoplegia EYE MOVEMENT IMPAIRMENT | EYE MUSCLE PARALYSIS | Extraocular muscle paralysis | Eye muscle paralysis | MUSCLE PARALYSIS EYE | Muscle paralysis eye | OCULOMOTOR PARALYSIS | OPHTHALMOPLEGIA | OPHTHALMOPLEGIA (NOS) | Oculomotor Paralysis | Oculomotor paralysis | Ophthalmoplegia | Ophthalmoplegia (NOS) | Ophthalmoplegia (disorder) | Ophthalmoplegia NOS | Ophthalmoplegia [Disease/Finding] | Ophthalmoplegia syndrome | Ophthalmoplegia, NOS | Ophthalmoplegias | PARALYSIS EXTRAOCULAR MUSCLE (S) | PARALYSIS OCULOMOTOR | Paralysis extraocular muscle (s) | Paralysis oculomotor | Paralysis of extraocular eye movement | Paralysis, Oculomotor | eye muscle paralysis | eye muscle; paralysis | eye muscles paralysis | oculomotor paralysis | ophthalmoplegia | ophthalmoplegia (diagnosis) | paralysis; eye muscle HPO2016_07_04:Paralysis of one or more extraocular muscles that are responsible for eye movements. [HPO:probinson] | MSH2017_2016_08_12:Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles. | NCI2016_02D:Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis. HPO2016_07_04:HP:0000602|MSH2017_2016_08_12:D009886|OMIM2016_04_17:MTHU008498|OMIM2016_04_17:MTHU010326|SNOMEDCT_US_2016_09_01:155196009|SNOMEDCT_US_2016_09_01:16110005|SNOMEDCT_US_2016_09_01:267745004 C1840299 Hypotrichosis simplex of scalp HTSS | HTSS1 | HYPOTRICHOSIS 2 | HYPOTRICHOSIS SIMPLEX OF THE SCALP 1 | HYPOTRICHOSIS, SPANISH TYPE | HYPT2 | Hereditary hypotrichosis simplex of scalp | Hereditary hypotrichosis simplex of scalp (disorder) | Hypotrichosis Simplex of Scalp | Hypotrichosis simplex of scalp | Hypotrichosis, Spanish Type SNOMEDCT_US_2016_09_01:Hypotrichosis simplex of the scalp (HSS) has manifestation of diffuse progressive hair loss that is confined to the scalp. Prevalence is unknown but HSS has been described in multiple members (males and females) of several large families. Progressive hair loss generally begins during the first decade of life and most patients are completely bald by the third decade of life. Body, axillary and facial hair, as well as the eyebrows and eyelashes are unaffected. There are no anomalies of the skin, nails and teeth. The causative gene CDSN (encoding the keratinocyte adhesion molecule, corneodesmosin) has been mapped to chromosome 6p21.3. Transmitted in an autosomal dominant manner. MSH2017_2016_08_12:C564143|OMIM2016_04_17:146520|OMIM2016_04_17:602593|SNOMEDCT_US_2016_09_01:717256009 C3281002 Retinitis pigmentosa 63 RETINITIS PIGMENTOSA 63 | RP63 OMIM2016_04_17:614494 C1850899 Gastrocutaneous syndrome GASTROCUTANEOUS SYNDROME | Gastrocutaneous syndrome | PEPTIC ULCER/HIATAL HERNIA, MULTIPLE LENTIGINES/CAFE-AU-LAIT SPOTS, HYPERTELORISM, MYOPIA MSH2017_2016_08_12:C535651|OMIM2016_04_17:137270 C3279996 Myopia 20, autosomal dominant MYOPIA 20, AUTOSOMAL DOMINANT | MYP20 OMIM2016_04_17:614166 C0242706 Hyperoxia HYPEROXIA | Hyperoxia | Hyperoxia (disorder) | Hyperoxia [Disease/Finding] | Hyperoxias | hyperoxia | oxygen stress (breathing) CSP2006:abnormal increase in the amount of oxygen in the tissues and organs. | MSH2017_2016_08_12:An abnormal increase in the amount of oxygen in the tissues and organs. MSH2017_2016_08_12:D018496|SNOMEDCT_US_2016_09_01:238158000 C1658125 Spinal cord cancer Spinal cord--Cancer | spinal cord cancer C4020858 Choreatic disease Choreatic disease HPO2016_07_04:HP:0002072 C4280564 Cloverleaf cranium shape Cloverleaf cranium shape | Trilobar cranium shape HPO2016_07_04:HP:0002676 C0039590 Testicular neoplasms Neoplasm of Testis | Neoplasm of testis | Neoplasm of testis (disorder) | Neoplasm of the Testis | Neoplasm, Testicular | Neoplasm, Testis | Neoplasms, Testicular | Neoplasms, Testis | Testicular Neoplasm | Testicular Neoplasms | Testicular Neoplasms [Disease/Finding] | Testicular Tumor | Testicular Tumors | Testicular neoplasia | Testicular neoplasm | Testicular neoplasm NOS | Testicular tumor | Testicular tumor (disorder) | Testicular tumour | Testis Neoplasm | Testis Neoplasms | Tumor of Testis | Tumor of testis | Tumor of the Testis | Tumour of testis | neoplasm of testis | neoplasm of testis (diagnosis) | neoplasms testicular | testicular neoplasm | testicular neoplasms | testicular tumor | testicular tumors | testicular tumour | testicular tumours | testis neoplasm | testis tumor | testis tumors | tumor testicular | tumor testis CSP2006:new abnormal testicular tissue that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease. | HPO2016_07_04:The presence of a neoplasm of the testis. [HPO:probinson] | MSH2017_2016_08_12:Tumors or cancer of the TESTIS. Germ cell tumors (GERMINOMA) of the testis constitute 95% of all testicular neoplasms. | NCI2016_02D:A benign or malignant neoplasm that affects the testis. Representative examples include fibroma, thecoma, benign Sertoli cell tumor, seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma. HPO2016_07_04:HP:0010788|MSH2017_2016_08_12:D013736|SNOMEDCT_US_2016_09_01:126900000|SNOMEDCT_US_2016_09_01:236778008 C0026918 Mycobacterium infections Disease;mycobacterial | Infection due to mycobacteria | Infection due to mycobacterium species | Infection due to mycobacterium species (disorder) | Infection, Mycobacterium | Infections, Mycobacterium | MYCOBACTERIAL DISEASE | MYCOBACTERIOSES | Mycobacterial Infection | Mycobacterial Infections | Mycobacterial disease | Mycobacterial disease NOS | Mycobacterial disease NOS (disorder) | Mycobacterial diseases | Mycobacterial infection | Mycobacterial infection NOS | Mycobacterial infection, unspecified | Mycobacterial infections | Mycobacterial infectious disease | Mycobacteriosis | Mycobacteriosis (disorder) | Mycobacteriosis NOS | Mycobacteriosis, NOS | Mycobacterium | Mycobacterium Infection | Mycobacterium Infections | Mycobacterium Infections [Disease/Finding] | Mycobacterium infection, unspecified | Mycobacterium infectn,unspc | Mycobacterium; infection | Unspecified diseases due to mycobacteria | [X]Mycobacterium infection, unspecified | [X]Mycobacterium infection, unspecified (disorder) | [X]Mycobacterium infectn,unspc | infection; Mycobacterium | infections mycobacterial | mycobacterial disease | mycobacterial infection | mycobacterial infection (diagnosis) | mycobacteriosis | mycobacterium infection MEDLINEPLUS_20151021:Mycobacteria are a type of germ. There are many different kinds. The most common one causes tuberculosis. Another one causes leprosy. Still others cause infections that are called atypical mycobacterial infections. They aren't "typical" because they don't cause tuberculosis. But they can still harm people, especially people with other problems that affect their immunity, such as AIDS.
Sometimes you can have these infections with no symptoms at all. At other times, they can cause lung symptoms similar to tuberculosis:
Medicines can treat these infections, but often more than one is needed to cure the infection.
| MSH2017_2016_08_12:Infections with bacteria of the genus MYCOBACTERIUM. ICD10CM_2017:A31.9|ICD9CM_2014:031.9|MSH2017_2016_08_12:D009164|OMIM2016_04_17:MTHU043284|SNOMEDCT_US_2016_09_01:154298007|SNOMEDCT_US_2016_09_01:186345003|SNOMEDCT_US_2016_09_01:187318007|SNOMEDCT_US_2016_09_01:266184007|SNOMEDCT_US_2016_09_01:373084004|SNOMEDCT_US_2016_09_01:88415009 C0019699 Hiv seropositivity AIDS Seroconversion | AIDS Seroconversions | AIDS Seropositivities | AIDS Seropositivity | Anti HIV Positivity | Anti-HIV Positivities | Anti-HIV Positivity | Antibody Positivities, HIV | Antibody Positivity, HIV | HIV Antibody Positivities | HIV Antibody Positivity | HIV IMMUNOASSAY POSITIVE | HIV POSITIVE | HIV Positive | HIV Positivity | HIV Seroconversion | HIV Seroconversions | HIV Seropositivities | HIV Seropositivity | HIV Seropositivity [Disease/Finding] | HIV TEST POSITIVE | HIV TEST POSITVE | HIV pos | HIV positive | HIV positive (finding) | HIV positive NOS | HIV positives | HIV positve | HIV seroconversion | HIV seropositive | HIV seropositive NOS | HIV seropositivity | HIV seropositivity (diagnosis) | HIV seropositivity (disorder) | HIV test positive | HIV test positve | HIV+ | HIV-test; positive | HIV; positive | HIV; test, positive | HTLV III Seroconversion | HTLV III Seropositivity | HTLV III TEST POSITIVE | HTLV III test positive | HTLV-3 antibody positive | HTLV-III Seroconversion | HTLV-III Seroconversions | HTLV-III Seropositivities | HTLV-III Seropositivity | HUMAN IMMUNODEFICIENCY VIRUS POSITIVE | Human immunodeficiency virus (HIV) positive | Human immunodeficiency virus (HIV) positive (finding) | Human immunodeficiency virus (HIV) seropositivity | Human immunodeficiency virus (HIV) seropositivity (disorder) | Human immunodeficiency virus positive | Human immunodeficiency virus positive (finding) | Human immunodeficiency virus seropositivity | Human immunodeficiency virus seropositivity (disorder) | POSITIVE HIV ANTIBODY TEST | Positive test for HIV | Positivities, Anti-HIV | Positivities, HIV Antibody | Positivity, Anti-HIV | Positivity, HIV Antibody | SEROLOGY POSITIVE FOR HIV | SEROLOGY POSITIVE FOR HUMAN IMMUNODEFICIENCY VIRUS | SEROPOSITIVE HTLV III | Seroconversion, AIDS | Seroconversion, HIV | Seroconversion, HTLV-III | Seroconversions, AIDS | Seroconversions, HIV | Seroconversions, HTLV-III | Seropositivities, AIDS | Seropositivities, HIV | Seropositivities, HTLV-III | Seropositivity, AIDS | Seropositivity, HIV | Seropositivity, HTLV-III | antibody positive AIDS test | antigen positive AIDS test | hiv (+) | hiv + | hiv pos | hiv positive | hiv+ | positive HIV | positive; HIV | positive; HIV-test | seroconversion HIV | seropositive (AIDS test) | test; HIV, positive MSH2017_2016_08_12:Development of neutralizing antibodies in individuals who have been exposed to the human immunodeficiency virus (HIV/HTLV-III/LAV). | NCI2016_02D:A laboratory test result indicating the presence of the human immunodeficiency virus (HIV) in a sample. | NCI2016_NCI-GLOSS_1602D:Infected with the human immunodeficiency virus (HIV), the cause of acquired immunodeficiency syndrome (AIDS). ICD10CM_2017:Z21|MSH2017_2016_08_12:D006679|SNOMEDCT_US_2016_09_01:143224002|SNOMEDCT_US_2016_09_01:165816005|SNOMEDCT_US_2016_09_01:402916007 C1707964 Exophytic schneiderian papilloma Exophytic Schneiderian Papilloma NCI2016_02D:A benign exophytic papillary neoplasm with fibrovascular cores lined by epithelial cells. It arises from the lower anterior nasal septum. Clinical manifestations include nasal obstruction, epistaxis, and the presence of a mass. C0585109 Dilutional hyponatraemia Dilutional hyponatraemia | Dilutional hyponatremia | Dilutional hyponatremia (disorder) | dilutional hyponatraemia | dilutional hyponatremia SNOMEDCT_US_2016_09_01:307201006 C0018801 Heart failure CARDIAC FAILURE | CARDIAC INSUFFICIENCY | Cardiac Failure | Cardiac Insufficiency | Cardiac failure | Cardiac failure (NOS) | Cardiac failure NOS | Cardiac failure, NOS | Cardiac function failed | Cardiac function failure | Cardiac insufficiency | FAILURE HEART | Failure heart | Failure, Heart | Failure;cardiac | Failure;heart | HEART FAILURE | HEART FAILURE (NOS) | HEART FAILURE AND OTHER FUNCTIONAL DISORDERS | HF - Heart failure | Heart Failure | Heart failure | Heart failure (NOS) | Heart failure (disorder) | Heart failure NOS | Heart failure NOS (disorder) | Heart failure, NOS | Heart failure, unspecified | Heart failures | Heart insufficiency | Heart: [weak] or [failure NOS] | Heart: [weak] or [failure NOS] (disorder) | INSUFFICIENCY CARDIAC | Insufficiency - cardiac | Insufficiency cardiac | Insufficiency, Cardiac | Insufficiency;cardiac | Myocardial failure, NOS | Weak heart | Weak heart, NOS | Weakness;heart | cardiac failure | cardiac failure (diagnosis) | cardiac failures | cardiac insufficiency | cardiac; failure | cardiac; insufficiency | failure cardiac | failure; cardiac | failure; heart | failures heart | heart failure | heart failures | heart insufficiency | heart weakness | heart weaknesses | heart; insufficiency | heart; weakness | hearts weak | insufficiency cardiac | insufficiency heart | insufficiency; cardiac | insufficiency; heart | myocardial failure | weak heart | weak; heart CSP2006:inability of the heart to pump blood at an adequate rate to fill tissue metabolic requirements or the ability to do so only at an elevated filling pressure. | MEDLINEPLUS_20151021:Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Heart failure does not mean that your heart has stopped or is about to stop working. It means that your heart is not able to pump blood the way it should. It can affect one or both sides of the heart.
The weakening of the heart's pumping ability causes
Common causes of heart failure are coronary artery disease, high blood pressure and diabetes. It is more common in people who are 65 years old or older, African Americans, people who are overweight, and people who have had a heart attack. Men have a higher rate of heart failure than women.
Your doctor will diagnose heart failure by doing a physical exam and heart tests. Treatment includes treating the underlying cause of your heart failure, medicines, and heart transplantation if other treatments fail.
NIH: National Heart, Lung, and Blood Institute
| MSH2017_2016_08_12:A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION. | NCI2016_02D:Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. | NCI2016_CTCAE_1602D:A disorder characterized by the inability of the heart to pump blood at an adequate volume to meet tissue metabolic requirements, or, the ability to do so only at an elevation in the filling pressure. | NCI2016_FDA_1602D:Inability of the heart to pump blood at an adequate rate to fill tissue metabolic requirements or the ability to do so only at an elevated filling pressure. | NCI2016_NICHD_1602D:Inability of the heart to meet tissue metabolic requirements. HPO2016_07_04:HP:0001635|ICD10CM_2017:I50|ICD10CM_2017:I50.9|ICD9CM_2014:428|ICD9CM_2014:428.9|MSH2017_2016_08_12:D006333|OMIM2016_04_17:MTHU009472|OMIM2016_04_17:MTHU012782|OMIM2016_04_17:MTHU052864|SNOMEDCT_US_2016_09_01:155374007|SNOMEDCT_US_2016_09_01:155375008|SNOMEDCT_US_2016_09_01:155377000|SNOMEDCT_US_2016_09_01:195117009|SNOMEDCT_US_2016_09_01:266248006|SNOMEDCT_US_2016_09_01:266308000|SNOMEDCT_US_2016_09_01:84114007 C0013295 Duodenal ulcer Common duodenal ulcer | Common duodenal ulcer (disorder) | Common duodenal ulcer (disorder) [Ambiguous] | Common duodenal ulcer, NOS | DU | DU - Duodenal ulcer | DUD - Duodenal ulcer disease | DUODENAL ULCER | DUODENAL ULCER DISEASE | DUODENAL ULCERATION | DUODENUM, PEPTIC ULCER | DUODENUM, ULCER | Duodenal Ulcer | Duodenal Ulcer [Disease/Finding] | Duodenal Ulcers | Duodenal ulcer | Duodenal ulcer (diagnosis) | Duodenal ulcer (disorder) | Duodenal ulcer NOS | Duodenal ulcer NOS (disorder) | Duodenal ulcer disease | Duodenal ulcer disease (disorder) | Duodenal ulcer disease, NOS | Duodenal ulcer, NOS | Peptic ulcer of duodenum | Peptic ulcer of duodenum (disorder) | Peptic ulcer of duodenum, NOS | ULCER DUODENAL | Ulcer duodenal | Ulcer, Duodenal | Ulcer;duodenal | Ulcers, Duodenal | Unspecified duodenal ulcer | Unspecified duodenal ulcer (disorder) | Unspecified duodenal ulcer NOS | Unspecified duodenal ulcer NOS (disorder) | du | duodenal ulcer | duodenal ulcer (diagnosis) | duodenal ulceration | duodenal ulcers | duodenum ulcer | duodenum ulcers | duodenum; ulcer | ulcer; duodenum CSP2006:peptic ulcer located in the duodenum, the shortest and widest portion of the small intestine adjacent to the pylorus of the stomach. | HPO2016_07_04:An erosion of the mucous membrane of in a portion of the duodenum. [HPO:probinson] | MSH2017_2016_08_12:A PEPTIC ULCER located in the DUODENUM. | NCI2016_02D:An ulcer in the duodenal wall. | NCI2016_CTCAE_1602D:A disorder characterized by a circumscribed, inflammatory and necrotic erosive lesion on the mucosal surface of the duodenal wall. HPO2016_07_04:HP:0002588|ICD10CM_2017:K26|ICD9CM_2014:532|MSH2017_2016_08_12:D004381|OMIM2016_04_17:MTHU036759|SNOMEDCT_US_2016_09_01:155691003|SNOMEDCT_US_2016_09_01:155700000|SNOMEDCT_US_2016_09_01:196651004|SNOMEDCT_US_2016_09_01:196669008|SNOMEDCT_US_2016_09_01:196672001|SNOMEDCT_US_2016_09_01:196679005|SNOMEDCT_US_2016_09_01:196680008|SNOMEDCT_US_2016_09_01:235703009|SNOMEDCT_US_2016_09_01:367474008|SNOMEDCT_US_2016_09_01:51868009|SNOMEDCT_US_2016_09_01:553009 C0162280 Conjunctival deposit CONJUNCTIVAL DEPOSIT | Conjunctival deposit | Conjunctival deposit (disorder) | Conjunctival deposit, NOS | Conjunctival deposits | conjunctiva; deposit | conjunctival deposits | conjunctival deposits (diagnosis) | deposition; conjunctiva ICD10CM_2017:H11.11|ICD9CM_2014:372.56|SNOMEDCT_US_2016_09_01:62660000 C0030593 Par planitis PARS PLANITIS | Pars Planitis | Pars Planitis [Disease/Finding] | Pars planitis | Pars planitis (disorder) | Planitis, Pars | Posterior cyclitis | Posterior cyclitis (disorder) | chorioretinitis pars planitis | chorioretinitis pars planitis (diagnosis) | cyclitis; posterior | par planitis | pars planitis | posterior; cyclitis MSH2017_2016_08_12:Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata. | NCI2016_02D:An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders. ICD10CM_2017:H30.2|ICD9CM_2014:363.21|MSH2017_2016_08_12:D015868|OMIM2016_04_17:606177|SNOMEDCT_US_2016_09_01:193452008|SNOMEDCT_US_2016_09_01:314428001|SNOMEDCT_US_2016_09_01:45688009 C0458220 Nervus intermedius neuralgia Geniculate neuralgia | Geniculate otalgia | Hunt neuralgia | Hunt's neuralgia | Nervus intermedius neuralgia | Nervus intermedius neuralgia (disorder) | Neuralgia facialis vera | nervus intermedius neuralgia | nervus intermedius neuralgia (diagnosis) SNOMEDCT_US_2016_09_01:95670000 C1280433 Lipoatrophy LIPOATROPHY | Lipoatrophy | Lipoatrophy (disorder) | lipoatrophy HPO2016_07_04:Localized loss of fat tissue. [HPO:sdoelken] HPO2016_07_04:HP:0100578|OMIM2016_04_17:MTHU049594|SNOMEDCT_US_2016_09_01:248315005 C0155072 Mooren Mooren | Mooren ulcer | Mooren's corneal ulcer | Mooren's corneal ulcer (diagnosis) | Mooren's corneal ulceration | Mooren's corneal ulceration (physical finding) | Mooren's ulcer | Mooren's ulcer (disorder) | Mooren; ulcer | ulcer; Mooren ICD10CM_2017:H16.05|ICD9CM_2014:370.07|SNOMEDCT_US_2016_09_01:22440001 C0729233 Dissecting aneurysm of the thoracic aorta AORTA THORACIC ANEURYSM DISSECTING | Dissecting Thoracic Aortic Aneurysm | Dissecting aneurysm of the thoracic aorta | Dissecting aortic aneurysm, thoracic | Dissection of aorta, thoracic | Thoracic | aneurysm; thoracic aorta, dissecting | aorta thoracic; aneurysm, dissecting ICD9CM_2014:441.01 C1827808 Viral exanthem due to chicken pox Chicken pox exanthem | Exanthem caused by chicken pox | Exanthem caused by chicken pox (disorder) | Exanthem due to chicken pox | Exanthem due to chicken pox (disorder) | viral exanthem due to chicken pox | viral exanthem due to chicken pox (diagnosis) SNOMEDCT_US_2016_09_01:423333008 C1300257 Thanatophoric dysplasia, type 2 CLOVERLEAF SKULL WITH THANATOPHORIC DWARFISM | Cloverleaf skull with thanatophoric dwarfism | TD2 | THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL | THANATOPHORIC DYSPLASIA WITH STRAIGHT FEMURS AND CLOVERLEAF SKULL | THANATOPHORIC DYSPLASIA, TYPE II | Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull | Thanatophoric Dysplasia, Type 2 | Thanatophoric Dysplasia, Type Ii | Thanatophoric dysplasia with Kleeblattschaedel | Thanatophoric dysplasia, type 2 | Thanatophoric dysplasia, type 2 (disorder) | Type 2 Thanatophoric Dysplasia NCI2016_02D:Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs. MSH2017_2016_08_12:C536508|OMIM2016_04_17:134934|OMIM2016_04_17:187601|SNOMEDCT_US_2016_09_01:389158007 C0037078 Language sign Language, Sign | Languages, Sign | Sign Language | Sign Languages | Sign language | Sign language (qualifier value) | language sign | language signed | sign language CSP2006:system of hand gestures used for communication by the deaf or by people speaking different languages. | MSH2017_2016_08_12:A system of hand gestures used for communication by the deaf or by people speaking different languages. | NCI2016_02D:A system of hand gestures used for communication. | PSY2004:System of hand gestures for communication in which the gestures function as words. MSH2017_2016_08_12:D012813|SNOMEDCT_US_2016_09_01:442389001 C0155100 Peripheral opacity of cornea Corneal macula not interfering with central vision | Peripheral corneal opacity | Peripheral opacification of the cornea | Peripheral opacity of cornea | Peripheral opacity of cornea (disorder) | Peripheral opacity of cornea (finding) | corneal opacity peripheral | peripheral corneal opacity | peripheral corneal opacity (diagnosis) | peripheral opacity of cornea | peripheral opacity of cornea (physical finding) HPO2016_07_04:Reduced transparency of the peripheral region of the cornea. [HPO:probinson] HPO2016_07_04:HP:0008011|ICD10CM_2017:H17.82|ICD9CM_2014:371.02|SNOMEDCT_US_2016_09_01:193798005|SNOMEDCT_US_2016_09_01:55713007 C1336297 Stage ii hodgkin's disease lymphocyte depletion type Stage II Hodgkin's Disease Lymphocyte Depletion Type | Stage II Hodgkin's Lymphoma Lymphocyte Depleted | Stage II Hodgkin's Lymphoma Lymphocyte Depletion Type | Stage II Lymphocyte Depleted Classical Hodgkin Lymphoma | Stage II Lymphocyte Depleted Hodgkin Lymphoma | Stage II Lymphocyte Depleted Hodgkin's Lymphoma | Stage II Lymphocyte-Depleted Classical Hodgkin Lymphoma NCI2016_02D:Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE). - 2003 C0220624 Adult brain tumor Adult Brain Neoplasm | Adult Brain Tumor | Brain Neoplasms, Adult | Brain tumor, adult: General and other | Neoplasm of Adult Brain | Neoplasm of the Adult Brain | Tumor of Adult Brain | Tumor of the Adult Brain | adult brain tumor | adult brain tumors | adults brain tumor | adults brain tumors | brain tumor adult | brain tumor, adult NCI2016_02D:A benign or malignant, primary or metastatic neoplasm of the brain occurring in adults. C0476408 Reduced vital capacity Reduced vital capacity | Vital capacity reduced | Vital capacity reduced (finding) | [D]Vital capacity reduced | [D]Vital capacity reduced (context-dependent category) | [D]Vital capacity reduced (situation) HPO2016_07_04:An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. [HPO:probinson] HPO2016_07_04:HP:0002792|ICD10CM_2017:R94.2|OMIM2016_04_17:MTHU042602|SNOMEDCT_US_2016_09_01:158645005|SNOMEDCT_US_2016_09_01:207455009|SNOMEDCT_US_2016_09_01:274715008 C1851101 Laurin-sandrow syndrome, segmental LAURIN-SANDROW SYNDROME, SEGMENTAL | Laurin-Sandrow Syndrome, Segmental MSH2017_2016_08_12:C535689|OMIM2016_04_17:135750 C0341863 Heavy frequent periods Epimenorrhagia | Excessive &/or frequent menstruation | Excessive &/or frequent menstruation (disorder) | Excessive and frequent menstruation | Excessive and frequent menstruation (finding) | Excessive or frequent menstruation | Excessive or frequent menstruation NOS | Excessive or frequent menstruation NOS (disorder) | Excessive or frequent menstruation NOS (finding) | Excessive/frequent menses NOS | Frequent heavy periods | Hyperpolymenorrhea | Hyperpolymenorrhoea | Polymenorrhagia | Polymenorrhagia (finding) | excessive and frequent menstruation (diagnosis) | heavy frequent periods | polymenorrhagia ICD9CM_2014:626.2|SNOMEDCT_US_2016_09_01:198418008|SNOMEDCT_US_2016_09_01:198419000|SNOMEDCT_US_2016_09_01:237129001|SNOMEDCT_US_2016_09_01:266601003|SNOMEDCT_US_2016_09_01:63515003 C1836674 Short distal phalanx (5th finger) Brachytelophalangism V | Fifth digit distal phalangeal hypoplasia | Hypoplastic/small terminal phalanx of the little finger | Short distal phalanx (5th finger) | Short distal phalanx of the 5th finger | Short distal phalanx of the fifth finger | Short outermost little finger bone | Short outermost pinkie finger bone | Short outermost pinky finger bone HPO2016_07_04:Hypoplastic/small distal phalanx of the fifth finger. [HPO:sdoelken] HPO2016_07_04:HP:0004227|OMIM2016_04_17:MTHU001176 C1834421 Myxoid subcutaneous tumors Myxoid subcutaneous tumors HPO2016_07_04:HP:0006769|OMIM2016_04_17:MTHU016863 C4280674 Agenesis of parotid duct Agenesis of parotid duct | Agenesis of stensen duct HPO2016_07_04:HP:0000198 C1962962 Hyperpigmentation adverse event Hyperpigmentation | Hyperpigmentation Adverse Event NCI2016_02D:An adverse reaction characterized by darkening of the skin. C4280635 Decreased facial muscle movement Decreased facial muscle movement HPO2016_07_04:HP:0000338 C4021527 Abdominal wall muscle weakness Abdominal wall muscle weakness | Lax abdominal musculature HPO2016_07_04:Decreased strength of the abdominal musculature. [HPO:probinson] HPO2016_07_04:HP:0009023 C3806221 Giant melanosomes in melanocytes Giant melanosomes in melanocytes | Macromelanosomes HPO2016_07_04:The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes. [HPO:probinson] HPO2016_07_04:HP:0005592|OMIM2016_04_17:MTHU041792 C1258666 Myxoid cyst (Ganglion unspecified) or (myxoid cyst) | (Ganglion unspecified) or (myxoid cyst) (disorder) | Benign cystic mucinous tumor | Benign cystic mucinous tumor, NOS | Benign cystic mucinous tumour | Benign cystic mucinous tumour, NOS | Cyst, Ganglion | Cyst, Ganglionic | Cyst, Myxoid | Cyst, ganglion | Cysts, Ganglion | Cysts, Ganglionic | Cysts, Myxoid | GANGLION | GANGLION CYST | GANGLION NOS | Ganglion | Ganglion (disorder) | Ganglion -RETIRED- | Ganglion Cyst | Ganglion Cysts | Ganglion Cysts [Disease/Finding] | Ganglion cyst | Ganglion cyst (disorder) | Ganglion cyst (morphologic abnormality) | Ganglion unspecified | Ganglion unspecified (disorder) | Ganglion, NOS | Ganglion, unspecified | Ganglionic Cyst | Ganglionic Cysts | Ganglions | Mucous cyst of skin | Myxoid Cyst | Myxoid Cysts | Myxoid cyst | cyst ganglion | cyst ganglions | cyst; ganglion | cysts ganglion | cysts ganglions | ganglion | ganglion (diagnosis) | ganglion cyct | ganglion cyst | ganglion cysts | ganglion; cyst | ganglionic cyst | ganglionic cysts | ganglions | myxoid cyst CHV2011_02:a tumor or swelling on top of a joint or the covering of a tendon | MSH2017_2016_08_12:Nodular tumor-like lesions or mucoid flesh, arising from tendon sheaths, LIGAMENTS, or JOINT CAPSULE, especially of the hands, wrists, or feet. They are not true cysts as they lack epithelial wall. They are distinguished from SYNOVIAL CYSTS by the lack of communication with a joint cavity or the SYNOVIAL MEMBRANE. ICD10CM_2017:M67.4|ICD9CM_2014:727.43|MSH2017_2016_08_12:D045888|SNOMEDCT_US_2016_09_01:123251009|SNOMEDCT_US_2016_09_01:156687004|SNOMEDCT_US_2016_09_01:202940001|SNOMEDCT_US_2016_09_01:268001006|SNOMEDCT_US_2016_09_01:270543007|SNOMEDCT_US_2016_09_01:445008009|SNOMEDCT_US_2016_09_01:71307009|SNOMEDCT_US_2016_09_01:78435003 C1859722 Arthrogryposis renal dysfunction cholestasis syndrome ARC SYNDROME | ARC syndrome | ARCS | ARCS1 | ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 | Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis | Arthrogryposis renal dysfunction cholestasis syndrome | Arthrogryposis, Renal Dysfunction, And Cholestasis | Arthrogryposis, renal dysfunction, and cholestasis 1 MSH2017_2016_08_12:C535382|OMIM2016_04_17:208085|OMIM2016_04_17:608552 C0859247 Tongue surface redness Tongue surface redness C2985220 Anaplastic medulloblastoma Anaplastic Medulloblastoma NCI2016_02D:A medulloblastoma characterized by marked nuclear pleomorphism, and high mitotic activity. C0334345 Adenoma apocrine Apocrine Adenoma | Apocrine adenoma | Apocrine adenoma (disorder) | Apocrine adenoma (morphologic abnormality) | Tubular Apocrine Adenoma | Tubular apocrine adenoma | [M]Apocrine adenoma | adenoma apocrine | apocrine cystadenoma | apocrine hidrocystoma NCI2016_02D:A benign dermal adnexal neoplasm with apocrine differentiation. It usually occurs in the scalp and has a female predilection. It presents as an asymptomatic solitary nodule. It is characterized by a lobular architecture. The lobules are composed by tubular structures lined by epithelial cells. There is no cytologic atypia or mitotic figures present. | NCI2016_02D:A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma. SNOMEDCT_US_2016_09_01:307596009|SNOMEDCT_US_2016_09_01:36318001 C0281784 Benign meningioma Benign Meningioma | Benign Meningioma (WHO Grade I) | Benign Meningiomas | Benign meningioma | MENINGIOMA, BENIGN | Meningioma benign | Meningioma, Benign | Meningiomas benign | Meningiomas, Benign | benign meningioma | benign meningiomas NCI2016_02D:A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection. | NCI2016_CDISC_1602D:A benign neoplasm of the meninges. MSH2017_2016_08_12:D008579 C2677090 Inflammatory bowel disease 18 IBD18 | INFLAMMATORY BOWEL DISEASE 18 | Inflammatory Bowel Disease 18 MSH2017_2016_08_12:C567377|OMIM2016_04_17:612262 C0175167 Rash acneform Acneform eruptions | Acneform eruptions (disorder) | Acneiform Eruption | Acneiform Eruptions | Acneiform Eruptions [Disease/Finding] | Acneiform eruption | Acneiform eruption (disorder) | Eruption, Acneiform | Eruptions, Acneiform | RASH ACNEFORM | RASH ACNEIFORM | Rash acneform | Rash acneiform | acneform eruption | acneiform eruption | acneiform eruption (physical finding) | clinical impressions acneiform eruption MSH2017_2016_08_12:Visible efflorescent lesions of the skin caused by acne or resembling acne. (Dorland, 28th ed, p18, 575) MSH2017_2016_08_12:D017486|SNOMEDCT_US_2016_09_01:24554006|SNOMEDCT_US_2016_09_01:402644006 C1867451 Pseudoxanthoma elasticum, heterozygous PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS | Pseudoxanthoma Elasticum, Heterozygous MSH2017_2016_08_12:C566744|OMIM2016_04_17:177850 C1443901 Intestinal botulism Intestinal botulism | Intestinal botulism (disorder) SNOMEDCT_US_2016_09_01:409563004 C3899983 Bclc stage 0 adult hepatocellular carcinoma BCLC Stage 0 Adult Hepatocellular Carcinoma | Barcelona Clinic Liver Cancer Stage 0 Adult Hepatocellular Carcinoma NCI2016_02D:Very early hepatocellular carcinoma. Patients are optimal candidates for resection. (HPB (Oxford) 2005; 7(1):35-41) C1519927 Vaginal non-keratinizing squamous cell carcinoma Vaginal Non-Keratinizing Squamous Cell Carcinoma NCI2016_02D:A squamous cell carcinoma that arises from the vagina and is characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent. C4021469 Short 3rd finger Hypoplastic/small 3rd finger | Short 3rd finger | Short middle finger HPO2016_07_04:Hypoplastic/small 3rd (middle) finger. [HPO:sdoelken] HPO2016_07_04:HP:0009461 C1970712 Multiple endocrine neoplasia, type iv MEN4 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV | Multiple Endocrine Neoplasia, Type IV | Type IV multiple endocrine neoplasia | multiple endocrine neoplasia type iv | multiple endocrine neoplasia, type IV | multiple endocrine neoplasia, type IV (diagnosis) MSH2017_2016_08_12:C567059|OMIM2016_04_17:600778|OMIM2016_04_17:610755 C0013712 Ego Ego | Ego (personality) | Egos | ego MSH2017_2016_08_12:The conscious portion of the personality structure which serves to mediate between the demands of the primitive instinctual drives, (the id), of internalized parental and social prohibitions or the conscience, (the superego), and of reality. MSH2017_2016_08_12:D004532 C2749477 Oculodentodigital dysplasia, autosomal recessive OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | OCULODENTOOSSEOUS DYSPLASIA, AUTOSOMAL RECESSIVE | ODDD, AUTOSOMAL RECESSIVE | ODOD, AUTOSOMAL RECESSIVE | Oculodentodigital Dysplasia, Autosomal Recessive | Oculodentoosseous Dysplasia, Autosomal Recessive MSH2017_2016_08_12:C567605|OMIM2016_04_17:121014|OMIM2016_04_17:257850 C0342471 3 beta-hydroxysteroid dehydrogenase deficiency 3 Beta-Hsd Deficiency | 3 beta-HSD deficiency | 3 beta-Hydroxysteroid dehydrogenase deficiency | 3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) | 3 beta-hydroxysteroid dehydrogenase deficiency | 3 beta-hydroxysteroid dehydrogenase deficiency (diagnosis) | 3 beta-ol Dehydrogenase Deficiency | 3-BETA-HSD DEFICIENCY | 3-Beta Hydroxysteroid Dehydrogenase Deficiency | 3-beta hydroxysteroid dehydrogenase; deficiency | 3b-Hydroxysteroid Dehydrogenase Deficiency | 3b-hydroxysteroid dehydrogenase deficiency | 3beta-Hsd Deficiency | 3beta-Hsd Deficiency Congenital Adrenal Hyperplasia | 3beta-Hydroxysteroid Dehydrogenase Deficiency | ADRENAL HYPERPLASIA II | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY | CAH - 3 beta-dehydrogenase deficiency | Congenital adrenal hyperplasia, type 4 | HSDB | Type II 3beta-Hydroxysteroid Dehydrogenase Deficiency MSH2017_2016_08_12:C579862|OMIM2016_04_17:201810|OMIM2016_04_17:613890|SNOMEDCT_US_2016_09_01:54470008 C1835894 Orofacial cleft 9 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 9 | Cleft Lip with or without Cleft Palate, Nonsyndromic, 9 | OFC9 | OROFACIAL CLEFT 9 | Orofacial Cleft 9 MSH2017_2016_08_12:C563675|OMIM2016_04_17:610361 C4060690 Tumor infiltration Tumor infiltration C0020217 Hydatidiform mole Classical hydatidiform mole | GTT, hydatidiform mole | HYDATIDIFORM MOLE | Hydatid Mole | Hydatid Moles | Hydatid mole | Hydatidiform Mole | Hydatidiform Mole [Disease/Finding] | Hydatidiform Moles | Hydatidiform mole | Hydatidiform mole (disorder) | Hydatidiform mole (morphologic abnormality) | Hydatidiform mole NOS | Hydatidiform mole [Ambiguous] | Hydatidiform mole, NOS | Hydatidiform mole, no ICD-O subtype | Hydatidiform mole, no ICD-O subtype (morphologic abnormality) | Hydatidiform mole, no International Classification of Diseases for Oncology subtype | Hydatidiform mole, no International Classification of Diseases for Oncology subtype (morphologic abnormality) | Hydatidiform mole, unspecified | MOLAR PREGNANCY | MOLE, HYDATID | MOLE, HYDATIDIFORM | Molar Pregnancies | Molar Pregnancy | Molar pregnancy | Molar pregnancy (disorder) | Molar pregnancy with hydatid mole | Molar pregnancy with hydatidiform mole | Molar pregnancy with hydatidiform mole (disorder) | Molar pregnancy with hydatidiform mole (disorder) [Ambiguous] | Molar pregnancy with vesicular mole | Molar pregnancy with vesicular mole (disorder) | Molar pregnancy, NOS | Mole | Mole (disorder) | Mole -RETIRED- | Mole of pregnancy | Mole of pregnancy, NOS | Mole, Hydatid | Mole, Hydatidiform | Mole, NOS | Moles, Hydatid | Moles, Hydatidiform | PREGNANCY, MOLAR | Pregnancies, Molar | Pregnancy, Molar | Vesicular mole | [M]Hydatidiform mole NOS | [M]Hydatidiform mole NOS (morphologic abnormality) | chorionic tumor | classical; hydatidiform mole | gestational trophoblastic tumor, hydatidiform mole | hydatid mole | hydatidiform mole | hydatidiform mole (diagnosis) | hydatidiform mole GTT | hydatidiform mole; classical | hydatidiform moles | hydatidiform; mole | molar pregnancies | molar pregnancy | molar pregnancy (non-metastatic GTD) | molar pregnancy; pregnancy | molars pregnancy | mole hydatidiform | mole pregnancy | mole; hydatidiform | mole; hydatidiform, classical | mole; pregnancy, hydatidiform | mole; vesicular | moles pregnancy | pregnancy mole | pregnancy; hydatidiform mole | pregnancy; mole | pregnancy; mole, hydatidiform | vesicular mole | vesicular; mole CSP2006:trophoblastic hyperplasia associated with normal gestation, or molar pregnancy; characterized by the swelling of the chorionic villi and elevated human chorionic gonadotropin; hydatidiform moles or molar pregnancy may be categorized as complete or partial based on their gross morphology, histopathology, and karyotype. | MSH2017_2016_08_12:Trophoblastic hyperplasia associated with normal gestation, or molar pregnancy. It is characterized by the swelling of the CHORIONIC VILLI and elevated human CHORIONIC GONADOTROPIN. Hydatidiform moles or molar pregnancy may be categorized as complete or partial based on their gross morphology, histopathology, and karyotype. | NCI2016_02D:A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes. | NCI2016_NCI-GLOSS_1602D:A slow-growing tumor that develops from trophoblastic cells (cells that help an embryo attach to the uterus and help form the placenta) after fertilization of an egg by a sperm. A hydatidiform mole contains many cysts (sacs of fluid). It is usually benign (not cancer) but it may spread to nearby tissues (invasive mole). It may also become a malignant tumor called choriocarcinoma. Hydatidiform mole is the most common type of gestational trophoblastic tumor. | NCI2016_NICHD_1602D:A placental disorder characterized by abnormal development with marked enlargement of the chorionic villi and hydropic changes which consist of hyperplasia of the villous trophoblastic cells. ICD10CM_2017:O01|ICD10CM_2017:O01.0|ICD10CM_2017:O01.9|ICD9CM_2014:630|MSH2017_2016_08_12:D006828|SNOMEDCT_US_2016_09_01:123300001|SNOMEDCT_US_2016_09_01:156085008|SNOMEDCT_US_2016_09_01:189856005|SNOMEDCT_US_2016_09_01:198610008|SNOMEDCT_US_2016_09_01:198611007|SNOMEDCT_US_2016_09_01:235323008|SNOMEDCT_US_2016_09_01:236118006|SNOMEDCT_US_2016_09_01:367455000|SNOMEDCT_US_2016_09_01:41491009|SNOMEDCT_US_2016_09_01:417044008|SNOMEDCT_US_2016_09_01:44782008|SNOMEDCT_US_2016_09_01:48430004 C3897746 Recurrent childhood pilocytic astrocytoma Recurrent Childhood Pilocytic Astrocytoma NCI2016_02D:The reemergence of pilocytic astrocytoma in childhood after a period of remission. C1851888 Echo virus 11 sensitivity E11S | ECHO VIRUS 11 SENSITIVITY | Echo Virus 11 Sensitivity MSH2017_2016_08_12:C565071|OMIM2016_04_17:129150 C1857499 Bony paranasal bossing Bony paranasal bossing HPO2016_07_04:HP:0004407|OMIM2016_04_17:MTHU013672 C0030246 Pustulosis of palms and soles Acropustulosis | Acropustulosis (disorder) | Chronic palmoplantar pustular psoriasis | PPP - Palmoplantar pustulosis | Palmoplantar Pustulosis | Palmoplantar pustular psoriasis | Palmoplantar pustules | Palmoplantar pustulosis | Palmoplantaris Pustulosis | Pustular Psoriasis of Palms and Soles | Pustular acrodermatitis | Pustular psoriasis of palms and soles | Pustular psoriasis of the palms AND/OR soles | Pustular psoriasis of the palms AND/OR soles (disorder) | Pustular psoriasis of the palms and soles | Pustulosis Palmaris et Plantaris | Pustulosis of Palms and Soles | Pustulosis of palms and soles | Pustulosis palmaris et plantaris | acropustulosis | palmoplantar pustular psoriasis | palmoplantar pustular psoriasis (diagnosis) | palmoplantar pustulosis | psoriasis; pustular, palmaris et plantaris | pustular; psoriasis, palmaris et plantaris | pustulosis palmaris et plantaris | pustulosis palmoplantaris HPO2016_07_04:A chronic, relapsing, pustular eruption that is localized to the palms and soles. [HPO:probinson, pmid:23209116] | NCI2016_02D:A chronic inflammatory disorder that generally occurs in adulthood and is characterized by sterile pustules intermingled with scaly erythemas, vesicles and hyperkeratosis occurring at distinct sites on the palms and soles. It is thought to be an autoimmune disorder precipitated by several factors, including local infection, and smoking. HPO2016_07_04:HP:0100847|ICD10CM_2017:L40.3|MSH2017_2016_08_12:D011565|SNOMEDCT_US_2016_09_01:238610005|SNOMEDCT_US_2016_09_01:27520001 C0751524 Simple partial status epilepticus Simple Partial Status Epilepticus | Simple partial status epilepticus | Simple partial status epilepticus (disorder) | Status Epilepticus, Simple Partial MSH2017_2016_08_12:D013226|SNOMEDCT_US_2016_09_01:423086004 C4011403 Ai1a AI1A | AMELOGENESIS IMPERFECTA, TYPE IA OMIM2016_04_17:104530|OMIM2016_04_17:150310 C0020631 Familial hypophosphatemia Familial Hypophosphatemia | Familial Hypophosphatemias | Familial hypophosphataemia | Familial hypophosphataemia (disorder) | Familial hypophosphatemia | Hypophosphatemia, Familial | Hypophosphatemia, Familial [Disease/Finding] | Hypophosphatemias, Familial | familial hypophosphatemia | familial hypophosphatemia (diagnosis) MSH2017_2016_08_12:An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME. ICD10CM_2017:E83.31|MSH2017_2016_08_12:D007015|SNOMEDCT_US_2016_09_01:237901003 C0014040 Encephalitis lethargica Cruchet | ECONOMO ENCEPHALITIS | ECONOMO-CRUCHET DISEASE | ENCEPHALITIS LETHARGICA | Economo | Encephalitis Lethargica | Encephalitis lethargica | Encephalitis lethargica (disorder) | Encephalitis lethargica (disorder) [Ambiguous] | LETHARGIC ENCEPHALITIS | VON ECONOMO DISEASE | Vienna; encephalitis | Von Economo's disease | Von Economo-Cruchet | economo encephalitis | encephalitis lethargic | encephalitis lethargica | encephalitis; Vienna | encephalitis; lethargica | lethargica; encephalitis | von Economo's disease | von Economo's encephalitis ICD10CM_2017:A85.8|SNOMEDCT_US_2016_09_01:186499007|SNOMEDCT_US_2016_09_01:186500003|SNOMEDCT_US_2016_09_01:20411005 C4025153 Dysplastic distal thumb phalanges with a central hole Dysplastic distal thumb phalanges with a central hole HPO2016_07_04:HP:0005688 C0396060 Congenital laryngeal adductor palsy Congenital laryngeal adductor palsy | Congenital laryngeal adductor palsy (disorder) | Congenital laryngeal adductor paralysis | LAP | LARYNGEAL ADDUCTOR PARALYSIS | Laryngeal Adductor Paralysis | VOCAL CORD DYSFUNCTION, ADDUCTOR TYPE | Vocal Cord Dysfunction, Adductor Type | laryngeal adductor paralysis MSH2017_2016_08_12:C562861|OMIM2016_04_17:150270|SNOMEDCT_US_2016_09_01:232443006|SNOMEDCT_US_2016_09_01:253739005 C0266607 Incomplete development of membranous labyrinth Incomplete development of membranous labyrinth | Incomplete development of membranous labyrinth (disorder) | Incomplete formation of membranous labyrinth SNOMEDCT_US_2016_09_01:70583001 C0264280 Edema; nasopharynx Edema of nasopharynx | Edema of nasopharynx (disorder) | Oedema of nasopharynx | edema; nasopharynx | nasopharynx; edema SNOMEDCT_US_2016_09_01:60416001 C1863080 Alpha-fetoprotein, hereditary persistence of ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF | HPAFP | Hereditary persistence of alpha-fetoprotein | Hereditary persistence of alpha-fetoprotein (disorder) SNOMEDCT_US_2016_09_01:A benign genetic condition with characteristic of persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy. OMIM2016_04_17:104150|OMIM2016_04_17:615970|SNOMEDCT_US_2016_09_01:716697002 C2035047 Partial simple motor epilepsy Epilepsy: [Jacksonian] or [focal] or [motor] | Epilepsy: [Jacksonian] or [focal] or [motor] (disorder) | Jacksonian motor epilepsy | Jacksonian motor partial seizure | Jacksonian, focal or motor epilepsy | Jacksonian, focal or motor epilepsy (disorder) | Jacksonian/focal/motor epilep. | epilepsy partial simple motor Jacksonian | partial simple motor epilepsy | partial simple motor epilepsy (diagnosis) SNOMEDCT_US_2016_09_01:155041001|SNOMEDCT_US_2016_09_01:193007004|SNOMEDCT_US_2016_09_01:307357004 C3275954 Lacht LACHT | LUNG AGENESIS, CONGENITAL HEART DEFECTS, AND THUMB ANOMALIES SYNDROME | MARDINI-NYHAN ASSOCIATION OMIM2016_04_17:601612 C1546847 Entity name part type - family Entity Name Part Type - family | family HL7V3.0_2015_07:Family name, this is the name that links to the genealogy. In some cultures (e.g. Eritrea) the family name of a son is the first name of his father.
C0027404 Narcolepsy GELINEAU SYNDROME | Gelineau Syndrome | Gelineau's Syndrome | Gelineau's Syndromes | Gelineau's syndrome | Gelineaus Syndrome | NARCOLEPSY | Narcolepsy | Narcolepsy (disorder) | Narcolepsy NOS | Narcolepsy [Disease/Finding] | Narcoleptic Syndrome | Narcoleptic Syndromes | Narcoleptic syndrome | PAROXYSMAL SLEEP | Paroxysmal Sleep | Paroxysmal sleep | SLEEP, PAROXYSMAL | Sleep, Paroxysmal | Syndrome, Gelineau | Syndrome, Gelineau's | Syndrome, Narcoleptic | Syndromes, Gelineau's | Syndromes, Narcoleptic | excessive uncontrollable daytime sleepiness | gelineau syndrome | gelineau's syndrome | g茅lineau's syndrome | narcolepsies | narcolepsy | narcolepsy (diagnosis) | narcolepsy disorder | narcoleptic syndrome | paroxysmal sleep CSP2006:recurrent, uncontrollable brief episodes of sleep and lapses in consciousness, often associated with hypnagogic hallucinations, cataplexy, automatic behaviors and sleep paralysis. | HPO2016_07_04:An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis. [] | MSH2017_2016_08_12:A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7) | NCI2016_02D:A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day. HPO2016_07_04:HP:0030050|ICD10CM_2017:G47.41|ICD10CM_2017:G47.419|ICD9CM_2014:347.0|MSH2017_2016_08_12:D009290|OMIM2016_04_17:MTHU039740|SNOMEDCT_US_2016_09_01:155059003|SNOMEDCT_US_2016_09_01:267702006|SNOMEDCT_US_2016_09_01:60380001 C1856465 Ghosal hematodiaphyseal dysplasia Diaphyseal dysplasia with anaemia | Diaphyseal dysplasia with anemia | Diaphyseal dysplasia with anemia (disorder) | GHDD | GHOSAL HEMATODIAPHYSEAL DYSPLASIA | GHOSAL SYNDROME | Ghosal Hematodiaphyseal Dysplasia | Ghosal Syndrome | Ghosal haematodiaphyseal dysplasia | Ghosal hematodiaphyseal dysplasia MSH2017_2016_08_12:C565551|OMIM2016_04_17:231095|SNOMEDCT_US_2016_09_01:389214003 C4021603 Widely spaced primary teeth Generalized spacing of primary teeth | Wide gaps between baby teeth | Wide gaps between primary teeth | Widely spaced baby teeth | Widely spaced deciduous teeth | Widely spaced milk teeth | Widely spaced primary teeth HPO2016_07_04:Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia. [HPO:ibailleulforestier] HPO2016_07_04:HP:0006313|OMIM2016_04_17:MTHU049308 C1327918 Oculootoradial syndrome IVIC SYNDROME | IVIC syndrome | Instituto Venezolano de Investigaciones Cientificas syndrome | OCULOOTORADIAL SYNDROME | OORS | Oculootoradial syndrome | RADIAL RAY DEFECTS, HEARING IMPAIRMENT, EXTERNAL OPHTHALMOPLEGIA, AND THROMBOCYTOPENIA | Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia MSH2017_2016_08_12:C535544|OMIM2016_04_17:147750|OMIM2016_04_17:607343 C0079297 Epidermolysis bullosa progressiva EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE | Epidermolysis Bullosa Junctionalis, Progressive | Epidermolysis Bullosa Progressiva | Epidermolysis bullosa progressiva MSH2017_2016_08_12:D016109|OMIM2016_04_17:226650|SNOMEDCT_US_2016_09_01:254193007 C1855544 Enlarged metaphyses Enlarged metaphyses | Enlarged wide portion of a long bone HPO2016_07_04:Abnormal increase in size of one or more metaphyses. [HPO:probinson] HPO2016_07_04:HP:0003051|OMIM2016_04_17:MTHU011910 C0233773 Hallucinations, hypnagogic Hallucination, Hypnagogic | Hallucination, hypnogogic | Hallucinations, Hypnagogic | Hypnagogic Hallucination | Hypnagogic Hallucinations | Hypnagogic hallucination | Hypnagogic hallucinations | Hypnagogic hallucinations (finding) | hallucinations hypnogogic | hypnagogic hallucination | hypnagogic hallucinations PSY2004:False sensory perceptions without actual appropriate stimuli, occurring while falling asleep. HPO2016_07_04:HP:0002519|MSH2017_2016_08_12:D006212|OMIM2016_04_17:MTHU001405|SNOMEDCT_US_2016_09_01:44780000 C1859591 Aural atresia, multiple congenital anomalies, and mental retardation AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION | Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation MSH2017_2016_08_12:C565923|OMIM2016_04_17:209770 C3809706 Ciliary dyskinesia, primary, 28 CILD28 | CILIARY DYSKINESIA, PRIMARY, 28 | CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS OMIM2016_04_17:603395|OMIM2016_04_17:615505 C1968814 Slender ulnae Slender ulna | Slender ulnae HPO2016_07_04:Reduction in diameter of the ulna. [HPO:probinson] HPO2016_07_04:HP:0003992|OMIM2016_04_17:MTHU020815 C0149506 Dacryocystitis chronic Chronic dacryocystitis | Chronic dacryocystitis (disorder) | DACRYOCYSTITIS CHRONIC | DACRYOCYSTITIS, CHRONIC | Dacryocystitis - chronic | chronic dacryocystitis | chronic dacryocystitis (diagnosis) | chronic; dacryocystitis | chronic; dacryopericystitis | dacryocystitis; chronic | dacryopericystitis; chronic ICD10CM_2017:H04.41|ICD9CM_2014:375.42|SNOMEDCT_US_2016_09_01:193990009|SNOMEDCT_US_2016_09_01:84627005 C0393541 Distal spinal muscular atrophy Distal Spinal Muscular Atrophy | Distal spinal muscular atrophy | Distal spinal muscular atrophy (disorder) | Spinal Muscular Atrophy, Distal | atrophy; muscle, spinal, distal | muscle; atrophy, spinal, distal ICD10CM_2017:G12.1|MSH2017_2016_08_12:D009134|SNOMEDCT_US_2016_09_01:230247001 C0342791 Carnitine-acylcarnitine translocase deficiency CACT | CACT DEFICIENCY | CACT Deficiency | CACTD | CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY | Carnitine Acylcarnitine Translocase Deficiency | Carnitine acylcarnitine translocase deficiency | Carnitine acylcarnitine translocase deficiency (disorder) | Carnitine-Acylcarnitine Carrier Deficiency | Carnitine-Acylcarnitine Translocase Deficiency MSH2017_2016_08_12:C562812|OMIM2016_04_17:212138|OMIM2016_04_17:613698|SNOMEDCT_US_2016_09_01:238003000 C4025236 Anomalous splenoportal venous system Anomalous splenoportal venous system HPO2016_07_04:HP:0005201 C1838951 Leigh syndrome due to mitochondrial complex i deficiency Atpase Deficiency, Nuclear-Encoded | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | Leigh Syndrome Due To Mitochondrial Complex I Deficiency MSH2017_2016_08_12:C564021|OMIM2016_04_17:256000|OMIM2016_04_17:516001|OMIM2016_04_17:516002|OMIM2016_04_17:516005|OMIM2016_04_17:516006|OMIM2016_04_17:601825|OMIM2016_04_17:602137|OMIM2016_04_17:602694|OMIM2016_04_17:603834|OMIM2016_04_17:603846|OMIM2016_04_17:609653|OMIM2016_04_17:611766|OMIM2016_04_17:612392|OMIM2016_04_17:614530 C2678065 Myofibrillar myopathy Myofibrillar Myopathies | Myofibrillar Myopathy | Myofibrillar changes | Myofibrillar myopathy | Myofibrillar myopathy (disorder) HPO2016_07_04:Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. [HPO:probinson] | NCI2016_02D:An inherited or sporadic disorder affecting the skeletal muscles. HPO2016_07_04:HP:0003715|MSH2017_2016_08_12:C580316|OMIM2016_04_17:MTHU022743|SNOMEDCT_US_2016_09_01:699269005 C1850189 Large pinnae Large pinnae HPO2016_07_04:HP:0000400|OMIM2016_04_17:MTHU010383 C3150613 Long toes Increased length of toes | Long toe | Long toes HPO2016_07_04:Digits that appear disproportionately long compared to the foot. [HPO:probinson, pmid:19125433] HPO2016_07_04:HP:0010511|OMIM2016_04_17:MTHU030363 C0027773 Nesidioblastosis Familial hyperinsulinaemia with pancreatic nesidioblastosis | Familial hyperinsulinemia with pancreatic nesidioblastosis | HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | Hyperinsulinaemia due to nesidioblastosis | Hyperinsulinaemia due to nesidioblastosis [Ambiguous] | Hyperinsulinaemia due to pancreatic islet beta cell hyperplasia | Hyperinsulinemia due to nesidioblastosis | Hyperinsulinemia due to pancreatic islet beta cell hyperplasia | Hyperinsulinism, Familial, with Pancreatic Nesidioblastosis | Islet Cell Adenomatosis | Islet cell hyperplasia | Islet cell hyperplasia (disorder) | Islet cell hyperplasia NOS | Islet cell hyperplasia, NOS | Islet-cell hyperplasia NOS | NESIDIOBLASTOSIS | NESIDIOBLASTOSIS OF PANCREAS | Nesidioblastoses | Nesidioblastoses, Pancreatic | Nesidioblastosis | Nesidioblastosis [Disease/Finding] | Nesidioblastosis of Pancreas | Nesidioblastosis, Pancreatic | PHHI - Persistent hyperinsulinaemic hypoglycemia of infancy | Pancreas Nesidioblastoses | Pancreas Nesidioblastosis | Pancreatic Nesidioblastoses | Pancreatic Nesidioblastosis | Pancreatic endocrine cell hyperplasia | Pancreatic endocrine cell hyperplasia NOS | Persistent hyperinsulinaemic hypoglycemia of infancy | islet cell hyperplasia | nesidioblastosis | nesidioblastosis (diagnosis) MSH2017_2016_08_12:An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the PANCREAS and CONGENITAL HYPERINSULINISM. It is due to focal hyperplasia of pancreatic ISLET CELLS budding off from the ductal structures and forming new islets of Langerhans. Mutations in the islet cells involve the potassium channel gene KCNJ11 or the ATP-binding cassette transporter gene ABCC8, both on CHROMOSOME 11. | NCI2016_02D:A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia. ICD10CM_2017:E16.9|MSH2017_2016_08_12:D046768|OMIM2016_04_17:256450|OMIM2016_04_17:601820|OMIM2016_04_17:MTHU023473|SNOMEDCT_US_2016_09_01:190450004|SNOMEDCT_US_2016_09_01:237649006|SNOMEDCT_US_2016_09_01:360337007|SNOMEDCT_US_2016_09_01:42681006|SNOMEDCT_US_2016_09_01:66149005 C1855675 Arima syndrome ARIMA SYNDROME | Arima syndrome | CEREBROOCULOHEPATORENAL SYNDROME | COLOBOMA, CHORIORETINAL, WITH CEREBELLAR VERMIS APLASIA | Cerebro-oculo-hepato-renal syndrome | Chorioretinal coloboma with cerebellar vermis aplasia | Coloboma, Chorioretinal, With Cerebellar Vermis Aplasia | DEKABAN-ARIMA SYNDROME | Dekaban Arima syndrome | Dekaban-Arima Syndrome | JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA | Joubert syndrome with bilateral chorioretinal coloboma MSH2017_2016_08_12:C537430|OMIM2016_04_17:243910 C1832345 Psoriasis susceptibility 3 PSORIASIS 3, SUSCEPTIBILITY TO | PSORIASIS SUSCEPTIBILITY 3 | PSORS3 OMIM2016_04_17:601454 C2959868 Verruca vulgaris of skin of lower extremity Verruca vulgaris of skin of lower extremity | Verruca vulgaris of skin of lower extremity (disorder) SNOMEDCT_US_2016_09_01:447146004 C3245522 Mossy foot disease Mossy foot disease | Mossy foot disease (disorder) SNOMEDCT_US_2016_09_01:252402000|SNOMEDCT_US_2016_09_01:7255004 C0751489 Adult sandhoff disease Adult Sandhoff Disease | Sandhoff Disease, Adult MSH2017_2016_08_12:D012497 C3150927 Vesicoureteral reflux 3 VESICOURETERAL REFLUX 3 | VUR3 OMIM2016_04_17:610928|OMIM2016_04_17:613674 C0022575 Keratoconjunctivitis sicca Dry eyes | KCS | KCS - Keratoconjunctivitis sicca | KERATOCONJUNCTIVITIS SICCA | Keraconjunctivitis sicca | Kerato conjunctivitis sicca | Keratoconjunctivitis Sicca | Keratoconjunctivitis Sicca [Disease/Finding] | Keratoconjunctivitis sicca | Keratoconjunctivitis sicca (disorder) | Sicca, Keratoconjunctivitis | kc | kcs | kerato conjunctivitis sicca | keratoconjunctivitis sicca AIR93:WHAT: Keratoconjunctivitis sicca. Keratoconjunctivitis Sicca (KCS): an eye condition in which there is decreased tear production and inflammation of the cornea and conjunctiva. WHY: Keratoconjunctivitis sicca is found in a significant number of patients with rheumatoid arthritis. KCS has also been described in systemic lupus erythematosus, polyarteritis nodosa, and scleroderma. KCS plus xerostomia is called the sicca syndrome. The association of the sicca syndrome with rheumatoid arthritis is known as Sjogren's syndrome. HOW: Clinically, patients with KCS may present with itching, burning eyes. They may complain of a dry sensation or of a foreign body sensation of the eyes. The conjunctiva is hyperemic, and thick strands of mucus may cover the eye. With slit lamp examination there is less than 1 mm of tear width at the margins of the upper and lower lids. There is increased debris and mucus strands within the tear film, seen best after blinking. Tiny punctate opacities are seen throughout the corneal surface. The Schirmer tear test (which is most accurately performed without topical anesthesia) shows less than 5 mm of wetting of filter paper at the end of 5 minutes. Finally, rose bengal, which is a water soluble dye specific for devitalized cells and mucin, will stain the dessicated corneal and conjunctival cells a bright red color. REFS: 1) Henkind, P and Gold, DH: Ocular manifestations of rheumatic disorders. Rheumatology 4:13, 1973. 2) Havener, W: Synopsis of ophthamology. | CSP2006:drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. | HPO2016_07_04:Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. [HPO:probinson] | MSH2017_2016_08_12:Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME. HPO2016_07_04:HP:0001097|MSH2017_2016_08_12:D007638|OMIM2016_04_17:MTHU017601|SNOMEDCT_US_2016_09_01:156455009|SNOMEDCT_US_2016_09_01:201444003|SNOMEDCT_US_2016_09_01:268050000|SNOMEDCT_US_2016_09_01:302896008|SNOMEDCT_US_2016_09_01:78946008 C0263962 Olecranon bursitis BURSITIS, OLECRANON | Bursitis of elbow | Capped elbow | Capped elbow (disorder) | ELBOW, STUDENT | Elbow bursitis (& olecranon) | Elbow bursitis (& olecranon) (disorder) | Inflammation of bursa of olecranon | Inflammation of bursa of olecranon (disorder) | Miner's elbow | Miner's elbow (disorder) | Miners' elbow | OLECRANON BURSITIS | Olecranon bursitis | Olecranon bursitis (disorder) | Shoe boil | Student's elbow | bursitis elbow | bursitis of elbow | bursitis olecranon | bursitis; olecranon | elbow bursitis | miner's elbow | miner's; elbow | olecranon bursitis | olecranon bursitis (diagnosis) | olecranon; bursitis | student's elbow ICD10CM_2017:M70.2|ICD9CM_2014:726.33|SNOMEDCT_US_2016_09_01:156680002|SNOMEDCT_US_2016_09_01:202930004|SNOMEDCT_US_2016_09_01:270542002|SNOMEDCT_US_2016_09_01:424548006|SNOMEDCT_US_2016_09_01:425940002|SNOMEDCT_US_2016_09_01:63517006|SNOMEDCT_US_2016_09_01:74859007|SNOMEDCT_US_2016_09_01:77299006 C1833380 Velofacioskeletal syndrome VELOFACIOSKELETAL SYNDROME | Velofacioskeletal syndrome MSH2017_2016_08_12:C536536|OMIM2016_04_17:600736 C0042974 Von willebrand disease ANGIOHEMOPHILIA | Angiohaemophilia | Angiohemophilia | Angiohemophilia, A | Angiohemophilia, B | Angiohemophilias | Constitutional thrombopathy | Disease;Von Willebrands | Disorder, Von Willebrand | Factor VIII Rag deficiency | Factor VIII deficiency with vascular defect | HEMOPHILIA, VASCULAR | Hemophilia, Vascular | Minot-von Willebrand-J眉rgens | PSEUDOHEMOPHILIA | Pseudohaemophilia | Pseudohaemophilia type B | Pseudohemophilia | Pseudohemophilia type B | Pseudohemophilia, Vascular | Pseudohemophilias, Vascular | VASCULAR HEMOPHILIA | VON WILLEBRAND DISEASE | VON WILLEBRAND'S DISEASE | VON WILLEBRANDS DISEASE | Vascular Hemophilia | Vascular Hemophilias | Vascular Pseudohemophilia | Vascular Pseudohemophilias | Vascular haemophilia | Vascular hemophilia | Vascular pseudohemophilia | Von Willebrand | Von Willebrand Disorder | Von Willebrand disease | Von Willebrand's Factor Deficiency | Von Willebrand's disease | Von Willebrand's factor deficiency | Von Willebrands disease | WILLEBRAND-JUERGENS DISEASE | Willebrand-J眉rgens | Willebrand-J眉rgens; thrombopathy | angiohemophilia | constitutional; thrombopathy | disease von willebrand | disease von willebrands | diseases von willebrand's | hemophilia; vascular | pseudohemophilia | pseudohemophilia; vascular | thrombopathy; Willebrand-J眉rgens | thrombopathy; constitutional | vWD - von Willebrand's disease | vascular hemophilia | vascular pseudohemophilia | vascular pseudohemophilia (diagnosis) | vascular; hemophilia | vascular; pseudohemophilia | von Willebrand | von Willebrand Disease | von Willebrand Diseases | von Willebrand Diseases [Disease/Finding] | von Willebrand Disorder | von Willebrand disease | von Willebrand disease (disorder) | von Willebrand disease, NOS | von Willebrand disorder | von Willebrand disorder (disorder) | von Willebrand's Disease | von Willebrand's Diseases | von Willebrand's disease | von Willebrand's disease (diagnosis) | von Willebrand's disease (disorder) | von Willebrand's-Jurgens' disease | von Willebrand-J?rgens disease | von Willebrand-Jurgens disease | von Willebrand-J眉rgens disease | von willebrand disease | von willebrand disorder | von willebrand's disease | von willebrands disease CSP2006:hemophilioid disorder due to deficiency of Von Willebrand factor and thus of Factor VIII complex. | MSH2017_2016_08_12:Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion. | NCI2016_02D:Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding. | SCTSPA_2016_04_30:Incluye la enfermedad de von Willebrand verdadera, con mutaci贸n en el locus VWF, as铆 como otros trastornos similares con otras mutaciones (seudo-EVW) y s铆ndrome de von Willebrand adquirido | SNOMEDCT_US_2016_09_01:Includes true von Willebrand disease with mutation at the VWF locus, as well as mimicking disorders with other mutations (pseudo VWD) and acquired von Willebrand syndrome ICD10CM_2017:D68.0|ICD10CM_2017:D69.8|ICD9CM_2014:286.4|MSH2017_2016_08_12:D014842|OMIM2016_04_17:MTHU016680|SNOMEDCT_US_2016_09_01:11093006|SNOMEDCT_US_2016_09_01:128105004|SNOMEDCT_US_2016_09_01:154819009 C2673946 Foveal hypoplasia (finding) Foveal hypoplasia | Foveal hypoplasia (finding) | Hypoplasia of the fovea HPO2016_07_04:Underdevelopment of the fovea centralis. [HPO:probinson] HPO2016_07_04:HP:0007750|OMIM2016_04_17:MTHU023711 C0016978 Gallbladder neoplasm Gallbladder Neoplasm | Gallbladder Neoplasms | Gallbladder Neoplasms [Disease/Finding] | Gallbladder Tumor | Gallbladder neoplasm | Gallbladder tumor | Gallbladder tumour | Neoplasm of Gallbladder | Neoplasm of gallbladder | Neoplasm of gallbladder (disorder) | Neoplasm of the Gallbladder | Neoplasm of the gallbladder | Neoplasm, Gallbladder | Neoplasms, Gallbladder | Tumor of Gallbladder | Tumor of gallbladder | Tumor of the Gallbladder | Tumor of the gallbladder | Tumour of gallbladder | gallbladder neoplasm | gallbladder neoplasms | gallbladder tumor | gallbladder tumors | gallbladder tumour | neoplasm of gallbladder | neoplasm of gallbladder (diagnosis) HPO2016_07_04:The presence of a neoplasm of the gallbladder. [HPO:probinson] | MSH2017_2016_08_12:Tumors or cancer of the gallbladder. | NCI2016_02D:A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. HPO2016_07_04:HP:0100575|MSH2017_2016_08_12:D005706|SNOMEDCT_US_2016_09_01:126854002 C1859570 Bardet-biedl syndrome 12 BARDET-BIEDL SYNDROME 12 | BBS12 | Bardet-Biedl Syndrome 12 MSH2017_2016_08_12:C565921|OMIM2016_04_17:610683|OMIM2016_04_17:615989 C0267171 Idiopathic gastric stasis Idiopathic gastric stasis | Idiopathic gastric stasis (disorder) | Idiopathic gastric stasis -RETIRED- SNOMEDCT_US_2016_09_01:28607007|SNOMEDCT_US_2016_09_01:353821005|SNOMEDCT_US_2016_09_01:77164002 C0154893 Hereditary choroid dystr. nos Hereditary choroid dystr. NOS | Hereditary choroid dystr.unsp. | Hereditary choroid dystrophy NOS | Hereditary choroid dystrophy NOS (disorder) | Hereditary choroidal atrophy | Hereditary choroidal dystrophies | Hereditary choroidal dystrophy | Hereditary choroidal dystrophy (disorder) | Hereditary choroidal dystrophy or atrophy, unspecified | Hereditary choroidal dystrophy, NOS | Hereditary choroidal dystrophy, unspecified | Unspecified hereditary choroid dystrophy | Unspecified hereditary choroid dystrophy (disorder) | choroid; degeneration, hereditary | degeneration; choroid, hereditary | hereditary choroidal dystrophy | hereditary choroidal dystrophy (diagnosis) ICD10CM_2017:H31.2|ICD10CM_2017:H31.20|ICD9CM_2014:363.5|ICD9CM_2014:363.50|SNOMEDCT_US_2016_09_01:193465004|SNOMEDCT_US_2016_09_01:193473008|SNOMEDCT_US_2016_09_01:74469006 C1333307 Adenocarcinoma of distal 1/3 of common bile duct Adenocarcinoma of Distal 1/3 of Common Bile Duct | Adenocarcinoma of the Distal 1/3 of the Common Bile Duct | Distal 1/3 of Common Bile Duct Adenocarcinoma | Distal 1/3 of the Common Bile Duct Adenocarcinoma NCI2016_02D:An adenocarcinoma that arises from the distal third of the common bile duct. C4280659 Malformation of cranial vault shape Malformation of cranial vault shape HPO2016_07_04:HP:0000267 C0268553 Hyperlysinemias Deficiencies, L-Lysine:NAD-Oxido-Reductase | Deficiencies, Lysine:Alpha-Ketoglutarate Reductase | Deficiency, L-Lysine:NAD-Oxido-Reductase | Deficiency, Lysine:Alpha-Ketoglutarate Reductase | Elevated blood lysine | Familial Hyperlysinemia | Familial Hyperlysinemias | Hyperlysinaemia | Hyperlysinaemia, NOS | Hyperlysinemia | Hyperlysinemia (disorder) | Hyperlysinemia, Familial | Hyperlysinemia, NOS | Hyperlysinemias | Hyperlysinemias [Disease/Finding] | Hyperlysinemias, Familial | L Lysine:NAD Oxido Reductase Deficiency | L-Lysine:NAD-Oxido-Reductase Deficiencies | L-Lysine:NAD-Oxido-Reductase Deficiency | Lysine:Alpha Ketoglutarate Reductase Deficiency | Lysine:Alpha-Ketoglutarate Reductase Deficiencies | Lysine:Alpha-Ketoglutarate Reductase Deficiency | Reductase Deficiencies, Lysine:Alpha-Ketoglutarate | Reductase Deficiency, Lysine:Alpha-Ketoglutarate | hyperlysinemia | hyperlysinemia (diagnosis) | hyperlysinemias HPO2016_07_04:An increased concentration of lysine in the blood. [HPO:gcarletti, pmid:4696900] | MSH2017_2016_08_12:A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56) | NCI2016_02D:An autosomal recessive inherited condition caused by mutations in the AASS gene. It is characterized by elevated levels of the amino acid lysine in the blood. It usually does not cause health problems. HPO2016_07_04:HP:0002161|ICD10CM_2017:E72.3|MSH2017_2016_08_12:D020167|OMIM2016_04_17:MTHU047634|SNOMEDCT_US_2016_09_01:58558003 C0281967 Retinal infarction Retinal Infarct | Retinal infarction | infarction; retina | retina; infarction HPO2016_07_04:HP:0007866 C3711383 Early-onset glaucoma Early-Onset Glaucoma | Hereditary Glaucoma MSH2017_2016_08_12:C580055 C0413194 Ethylene glycol toxicity Anti-freeze poisoning | Antifreeze causing toxic effect | ETHYLENE GLYCOL TOXICITY | Ethylene glycol poisoning | Ethylene glycol poisoning (disorder) | anti freeze poisoning | anti-freeze poisoning | ethylene glycol poisoning | ethylene glycol toxicity SNOMEDCT_US_2016_09_01:426692001|SNOMEDCT_US_2016_09_01:7759006 C2074900 Chronic postoperative pain Chronic postoperative pain | Chronic postoperative pain (finding) | chronic postoperative pain | chronic postoperative pain (diagnosis) SNOMEDCT_US_2016_09_01:109771000119103 C1879321 Acute myeloid leukemia (aml-m2) AML with Maturation | AML with maturation | Acute M2 Myeloid Leukemia | Acute Myeloblastic Leukemia with Maturation | Acute Myelocytic Leukemia with Maturation | Acute Myelogenous Leukemia with Maturation | Acute Myeloid Leukemia (AML-M2) | Acute Myeloid Leukemia with Maturation | Acute granulocytic leukaemia with maturation | Acute granulocytic leukemia with maturation | Acute myeloblastic leukaemia with maturation | Acute myeloblastic leukemia (with maturation) | Acute myeloblastic leukemia M2 | Acute myeloblastic leukemia with maturation | Acute myeloblastic leukemia with maturation (disorder) | Acute myelocytic leukaemia with maturation | Acute myelocytic leukemia with maturation | Acute myelogenous leukaemia with maturation | Acute myelogenous leukaemia with maturation, FAB M2 | Acute myelogenous leukemia with maturation | Acute myelogenous leukemia with maturation, FAB M2 | Acute myelogenous leukemia with maturation, FAB M2 (disorder) | Acute myeloid leukaemia with maturation | Acute myeloid leukaemia with maturation, FAB M2 | Acute myeloid leukemia with maturation | Acute myeloid leukemia with maturation (morphologic abnormality) | Acute myeloid leukemia with maturation, FAB M2 | Acute myeloid leukemia with maturation, FAB M2 (disorder) | Disorder: Acute myeloid leukemia with maturation, FAB M2 (disorder) | Disorder: Acute myeloid leukemia with maturation, FAB M2 [Ambiguous] | FAB M2 | Leukemia, Myeloid, Acute, M2 | M2 - Acute myeloblastic leukaemia with maturation | M2 - Acute myeloblastic leukemia with maturation | M2 Acute Granulocytic Leukemia | M2 Acute Myeloblastic Leukemia | M2 Acute Myeloblastic Leukemia with Maturation | M2 Acute Myelocytic Leukemia with Maturation | M2 Acute Myelogenous Leukemia | M2 Acute Myelogenous Leukemia with Maturation | M2 Acute Myeloid Leukemia | M2 Acute Myeloid Leukemia with Maturation | Myeloid Leukemia, Acute, M2 | acute myelogenous leukemia (AML) with maturation | acute myelogenous leukemia with maturation | acute myelogenous leukemia with maturation (diagnosis) NCI2016_02D:An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001) ICD10CM_2017:C92.0|MSH2017_2016_08_12:D015470|SNOMEDCT_US_2016_09_01:103691009|SNOMEDCT_US_2016_09_01:127224005|SNOMEDCT_US_2016_09_01:285768001|SNOMEDCT_US_2016_09_01:359645003|SNOMEDCT_US_2016_09_01:359648001 C0021603 Sleep initiation and maintenance disorders DIMS (Disorders of Initiating and Maintaining Sleep) | Disorders of Initiating and Maintaining Sleep | Disorders of initiating and maintaining sleep | Disorders of initiating and maintaining sleep (disorder) | Disorders of initiating and maintaining sleep [insomnias] | Disordr/initiat&maintain sleep | Sleep Initiation and Maintenance Disorders | Sleep Initiation and Maintenance Disorders [Disease/Finding] | disorder of initiating and maintaining sleep | disorder of initiating and maintaining sleep (diagnosis) | disorders of initiating or maintaining sleep | initiating or maintaining sleep; sleep disorder | sleep disorder; initiating or maintaining sleep MSH2017_2016_08_12:Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition. MSH2017_2016_08_12:D007319|SNOMEDCT_US_2016_09_01:194437008 C0007965 Chediak-higashi syndrome Anomaly or syndrome, Chediak-Steinbrinck | Anomaly or syndrome, Chediak-Steinbrinck-Higashi | BEGUEZ CESAR DISEASE | Begnez Cesar disease | Beguez Cesar disease | B茅guez C茅sar disease | CHEDIAK-HIGASHI SYNDROME | CHS | Chediak - Steinbrinck anomaly | Chediak Higashi Syndrome | Chediak Higashi anomaly | Chediak Higashi syndrome | Chediak anomaly | Chediak-Higashi | Chediak-Higashi Syndrome | Chediak-Higashi Syndrome [Disease/Finding] | Chediak-Higashi anomaly | Chediak-Higashi disease | Chediak-Higashi disease (diagnosis) | Chediak-Higashi disease (oculocutaneous albinism) | Chediak-Higashi syndrome | Chediak-Higashi syndrome (disorder) | Chediak-Higashi syndrome -RETIRED- | Chediak-Higashi; anomaly | Chediak-Steinbrinck anomaly | Chediak-Steinbrinck-Higashi Syndrome | Chediak-Steinbrinck-Higashi syndrome | Ch茅diak anomaly | Ch茅diak-Higashi syndrome | Ch茅diak-Higashi syndrome (disorder) | Ch茅diak-Steinbrinck anomaly | Congenital gigantism of peroxidase granules | Granulation anomaly of leucocytes | Granulation anomaly of leukocytes | Granulation anomaly or syndrome, Chediak-Steinbrinck | Granulation anomaly or syndrome, Chediak-Steinbrinck-Higashi | Granulocyte anomaly or syndrome, Chediak-Steinbrinck | Granulocyte anomaly or syndrome, Chediak-Steinbrinck-Higashi | Hereditary gigantism of cytoplasmic organelles | Hereditary leukomelanopathy | Leukocyte granulation anomaly | Oculocutaneous Albinism with Leukocyte Defect | Oculocutaneous albinism with leukocyte defect | Steinbrinck anomaly | Syndrome, Chediak-Higashi | anomaly; Chediak-Higashi | chediak higashi anomaly | chediak higashi syndrome | chediak-higashi syndrome | hereditary leukomelanopathy | hereditary leukomelanopathy (diagnosis) | leukomelanopathy; hereditary CSP2006:form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections; in many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions; transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle. | MSH2017_2016_08_12:A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle. | NCI2016_02D:A rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. Chediak-Higashi syndrome (CHS) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia; neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection; and abnormal natural killer (NK) cell function. CHS may be associated with hepatosplenomegaly, lymphadenopathy, anemia, thrombocytopenia, roentgenologic changes in bones, lungs and heart, and skin and psychomotor abnormalities; it is often fatal in childhood as a result of infection or an accelerated lymphoma-like phase. CHS occurs in mink, cattle, and mice, as well as man. ICD10CM_2017:D72.0|ICD10CM_2017:E70.330|MSH2017_2016_08_12:D002609|OMIM2016_04_17:214500|SNOMEDCT_US_2016_09_01:111396008|SNOMEDCT_US_2016_09_01:123309000|SNOMEDCT_US_2016_09_01:190696004|SNOMEDCT_US_2016_09_01:191356000 C1332552 Bile duct mucoepidermoid carcinoma Bile Duct Mucoepidermoid Carcinoma | Extrahepatic Bile Duct Mucoepidermoid Carcinoma | Mucoepidermoid Carcinoma of Bile Duct | Mucoepidermoid Carcinoma of the Bile Duct NCI2016_02D:A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts. C1334548 Adenoid cystic carcinoma of major salivary gland Adenoid Cystic Carcinoma of Major Salivary Gland | Adenoid Cystic Carcinoma of the Major Salivary Gland | Major Salivary Gland Adenoid Cystic Carcinoma NCI2016_02D:An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. C2751288 Neutropenia, severe congenital, autosomal dominant 2 NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT | Neutropenia, Severe Congenital, Autosomal Dominant 2 | SCN2 | Severe Congenital Neutropenia-2 MSH2017_2016_08_12:C567748|OMIM2016_04_17:600871|OMIM2016_04_17:613107 C4072881 Abnormality of hair curl pattern Abnormality of hair curl pattern HPO2016_07_04:HP:0010719 C1864846 Pigmented nodular adrenocortical disease, primary, 1 (disorder) ADRENOCORTICAL NODULAR DYSPLASIA, PRIMARY | Adrenocortical Nodular Dysplasia, Primary | CUSHING SYNDROME, ADRENAL, DUE TO PPNAD1 | Cushing Syndrome, Adrenal, Due To PPNAD1 | PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder) | PPNAD1 | Pigmented Micronodular Adrenocortical Disease, Primary, 1 | Pigmented Nodular Adrenocortical Disease, Primary, 1 MSH2017_2016_08_12:C566469|OMIM2016_04_17:188830|OMIM2016_04_17:610489 C0162770 Right ventricular hypertrophy Cardiomegaly of right ventricle | Cardiomegaly of right ventricle (disorder) | Enlarged right ventricle | Enlarged right ventricle (finding) | Hypertrophies, Right Ventricular | Hypertrophy, Right Ventricular | Hypertrophy, Right Ventricular [Disease/Finding] | Hypertrophy;ventricular;right | RIGHT VENTRICULAR HYPERTROPHY | RV hypertrophy | RVH | RVH - Right ventricular hypertrophy | Right Ventricular Hypertrophies | Right Ventricular Hypertrophy | Right ventricle hypertrophied | Right ventricular enlargement | Right ventricular hypertrophy | Right ventricular hypertrophy (disorder) | VENTRICULAR HYPERTROPHY, RIGHT | Ventricular Hypertrophies, Right | Ventricular Hypertrophy, Right | enlargement right ventricular | hypertrophy of right ventricle | hypertrophy of right ventricle (diagnosis) | hypertrophy right ventricular | right ventricular enlargement | right ventricular enlargement (diagnosis) | right ventricular hypertrophy | rvh HPO2016_07_04:In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. [HPO:probinson] | MSH2017_2016_08_12:Enlargement of the RIGHT VENTRICLE of the heart. This increase in ventricular mass is often attributed to PULMONARY HYPERTENSION and is a contributor to cardiovascular morbidity and mortality. | NCI2016_02D:Enlargement or overgrowth of the myocardium of the right ventricle, due chronic pressure overload. | NCI2016_FDA_1602D:Enlargement or overgrowth of the myocardium of the right ventricle, due chronic pressure overload. HPO2016_07_04:HP:0001667|MSH2017_2016_08_12:D017380|OMIM2016_04_17:MTHU011044|SNOMEDCT_US_2016_09_01:89792004 C3280358 Wolfram-like syndrome, autosomal dominant HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | WFSL | WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT | Wolfram-Like Syndrome, Autosomal Dominant MSH2017_2016_08_12:C565631|OMIM2016_04_17:606201|OMIM2016_04_17:614296 C0004361 Autogenic therapy Autogenic Training | Autogenic technique | Autogenic therapy | Autogenic therapy (regime/therapy) | Autogenic training | Biofeedback, autogenic treatment | Biofeedback, autogenic treatment (procedure) | Biofeedback, autogenic, treatment | Muscle Relaxation, Progressive | Progressive Muscle Relaxation | Progressive Relaxation | Progressive muscle relaxation | Progressive muscle relaxation (regime/therapy) | Relaxation, Progressive | Relaxation, Progressive Muscle | Training, Autogenic | autogenic conditioning | autogenic therapy | autogenic training | muscle progressive relaxation | progressive muscle relaxation CSP2006:method of training to reduce stress and bring the autonomic nervous system under voluntary control. | MSH2017_2016_08_12:Technique based on muscle relaxation during self-hypnotic exercises. It is used in conjunction with psychotherapy. | NIC2005:Assisting with self-suggestions about feelings of heaviness and warmth for the purpose of inducing relaxation | NIC2005:Facilitating the tensing and releasing of successive muscle groups while attending to the resulting differences in sensation | PSY2004:Physiological form of psychotherapy based on studies of sleep and hypnosis and the application of yoga principles. MSH2017_2016_08_12:D001326|SNOMEDCT_US_2016_09_01:386400004|SNOMEDCT_US_2016_09_01:389008003|SNOMEDCT_US_2016_09_01:44005004 C1839362 Cystic retinal degeneration Cystic retinal degeneration HPO2016_07_04:HP:0007667|OMIM2016_04_17:MTHU006952 C1835896 Spastic paraplegia 30, autosomal recessive (disorder) SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE | SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) | SPG30 | Spastic Paraplegia 30, Autosomal Recessive MSH2017_2016_08_12:C563677|OMIM2016_04_17:601255|OMIM2016_04_17:610357 C2677774 Age-related macular degeneration type 11 ARMD11 | Age-Related Macular Degeneration type 11 | MACULAR DEGENERATION, AGE-RELATED, 11 | Macular Degeneration, Age-Related, 11 MSH2017_2016_08_12:C567450|OMIM2016_04_17:604312|OMIM2016_04_17:611953 C1846331 Juvenile-onset dystonia DJO | DYSTONIA, JUVENILE-ONSET | Dystonia, juvenile-onset | Juvenile-onset dystonia MSH2017_2016_08_12:C537704|OMIM2016_04_17:607371 C4082173 Porencephaly Encephaloclastic Porencephaly | Porencephalies | Porencephaly | Porencephaly (disorder) | Porencephaly, Encephaloclastic | porencephaly HPO2016_07_04:A disorder of the brain in which a cyst or cavity filled with cerebrospinal fluid develops in the cerebral hemisphere. [HPO:probinson] | MSH2017_2016_08_12:Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC HEMIPLEGIA and MACROCEPHALY; MICROCEPHALY; or HYDROCEPHALUS. Mutations in the genes encoding COLLAGEN TYPE IV are associated with familial types. HPO2016_07_04:HP:0002132|MSH2017_2016_08_12:D065708|SNOMEDCT_US_2016_09_01:193045003 C4028876 Influenza a with manifestations influenza A with manifestations | influenza A with manifestations (diagnosis) C0349538 Anus; melanoma Anal Malignant Melanoma | Anal Melanoma | Cancer anal melanoma | Malignant Melanoma of Anus | Malignant Melanoma of the Anus | Malignant melanoma of anus | Malignant melanoma of anus (disorder) | Malignant melanoma of the anus | Melanoma of Anus | Melanoma of the Anus | anus; melanoma | malignant melanoma of anus | malignant melanoma of anus (diagnosis) | melanoma; anus NCI2016_02D:A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor. SNOMEDCT_US_2016_09_01:276821000 C0085606 Urgency of micturition Frequent/urgent urination | MICTRUITION URGENT | MICTURITION URGENCY | Mictruition urgent | Micturation Urgency | Micturition urgency | Must hurry to pass urine | Precipitancy of micturition | Precipitancy of urine | URGENCY URINATION | URINARY URGENCY | URINARY URGENCY/FREQUENCY | URINATION URGENCY OF | Urgency - urination | Urgency of mict | Urgency of micturition | Urgency of urination | Urgency to micturate | Urgency to pass urine | Urgency urination | Urgency with urination | Urgency, urinary | Urgent desire to urinate | Urgent desire to urinate (finding) | Urging to urinate | Urinary Urgency | Urinary frequency/urgency | Urinary precipitancy | Urinary urgency | Urinary urgency/frequency | Urination Urgency | Urination urgency of | Urination;urgent | [D]Urgency of micturition | [D]Urgency of micturition (context-dependent category) | [D]Urgency of micturition (situation) | [X] Urgency of micturition | [X]Urgency of micturition | feelings of sudden urinary urgency | feelings of sudden urinary urgency (symptom) | feelings of urinary urgency | feelings of urinary urgency sudden | sudden urinary urgency | urgency urinary | urgency urination | urgent urination | urinary urgency | urinary urgency (symptom) | urination urgency HPO2016_07_04:Urge incontinence is the strong, sudden need to urinate. [HPO:probinson, pmid:12559262] | NCI2016_02D:An acute and compelling urge to urinate. | NCI2016_CTCAE_1602D:A disorder characterized by a sudden compelling urge to urinate. | NCI2016_FDA_1602D:A sudden compelling urge to urinate. | NCI2016_NICHD_1602D:An acute and compelling urge to urinate. HPO2016_07_04:HP:0000012|ICD10CM_2017:R39.15|ICD9CM_2014:788.63|OMIM2016_04_17:MTHU000479|SNOMEDCT_US_2016_09_01:139401004|SNOMEDCT_US_2016_09_01:139408005|SNOMEDCT_US_2016_09_01:162129003|SNOMEDCT_US_2016_09_01:207189000|SNOMEDCT_US_2016_09_01:75088002 C0036346 Schizophrenia, childhood Childhood Onset Schizophrenia | Childhood Schizophrenia | Childhood schizophrenia | Childhood schizophrenia NOS | Childhood schizophrenia NOS (disorder) | Childhood-Onset Schizophrenia | Schizophrenia childhood | Schizophrenia in children | Schizophrenia, Childhood | Schizophrenia, Childhood [Disease/Finding] | Schizophrenia, Childhood-Onset | Schizophrenia, childhood type | Schizophrenia, childhood type NOS | Schizophrenic syndrome of childhood | Schizophrenic syndrome of childhood NOS | childhood schizophrenia | childhood schizophrenia (diagnosis) | childhood type; schizophrenic | children schizophrenia | schizophrenia childhood | schizophrenia children | schizophrenia in children | schizophrenia; childhood type | schizophrenia; syndrome of childhood | syndrome; schizophrenic of childhood MSH2017_2016_08_12:An obsolete concept, historically used for childhood mental disorders thought to be a form of schizophrenia. It was in earlier versions of DSM but is now included within the broad concept of PERVASIVE DEVELOPMENT DISORDERS. | NCI2016_02D:Schizophrenia occurring in childhood. MSH2017_2016_08_12:D012561|SNOMEDCT_US_2016_09_01:191699003|SNOMEDCT_US_2016_09_01:231484006 C0558207 Brontophobia Brontophobia | Brontophobia (finding) | Fear of thunder | Fear of thunderstorm | Fear of thunderstorm (finding) | Fear of thunderstorms | Tonitrophobia | brontophobia | fear of thunder | fear of thunderstorms (diagnosis) | unreasonable fear of thunder | unreasonable fear of thunder (symptom) ICD10CM_2017:F40.220|SNOMEDCT_US_2016_09_01:102926003|SNOMEDCT_US_2016_09_01:225633003 C2936476 Chronic liver failure Chronic Liver Failure | Chronic Liver Failures | Chronic hepatic failure | Chronic hepatic failure (disorder) | Chronic liver failure | Failure, Chronic Liver | Failures, Chronic Liver | HEPATIC FAILURE CHRONIC | Liver Failure, Chronic | Liver Failures, Chronic | chronic hepatic failure | chronic hepatic failure (diagnosis) | insufficiency; hepatic, chronic HPO2016_07_04:HP:0100626|ICD10CM_2017:K72.1|MSH2017_2016_08_12:D058625|SNOMEDCT_US_2016_09_01:235886005 C2930979 Acrofacial dysostosis richieri costa guion-almeida type Acrofacial dysostosis Richieri Costa Guion-Almeida type | Richieri Costa Guion-Almeida dwarfism | Richieri Costa Guion-Almeida syndrome | Richieri-Costa Guion-Almeida Cohen syndrome MSH2017_2016_08_12:C535676 C0339959 Pneumonia chlamydial Chlamydia pneumoniae pneumonia | Chlamydia; pneumonia | Chlamydial Pneumonia | Chlamydial Pneumonia [Disease/Finding] | Chlamydial Pneumonias | Chlamydial pneumonia | Chlamydial pneumonia (disorder) | Chlamydophila Pneumonia | Chlamydophila Pneumonias | Pneumonia chlamydial | Pneumonia due to chlamydia | Pneumonia, Chlamydial | Pneumonia, Chlamydophila | Pneumonias, Chlamydial | Pneumonias, Chlamydophila | chlamydial pneumonia | chlamydial pneumonia (diagnosis) | pneumonia chlamydial | pneumonia; chlamydial MSH2017_2016_08_12:Pneumonia caused by infections with the genus CHLAMYDIA; and CHLAMYDOPHILA, usually with CHLAMYDOPHILA PNEUMONIAE. ICD10CM_2017:J16.0|ICD9CM_2014:483.1|MSH2017_2016_08_12:D061387|SNOMEDCT_US_2016_09_01:195897008|SNOMEDCT_US_2016_09_01:233609002 C4015388 Mccrp2 MCCRP2 | MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 OMIM2016_04_17:605031|OMIM2016_04_17:616171 C0406557 Poikiloderma of kindler BULLOUS ACROKERATOTIC POIKILODERMA OF KINDLER AND WEARY | Bullous acrokeratotic poikiloderma of kindler and weary | Congenital bullous poikiloderma | KINDLER SYNDROME | Kindler syndrome | Kindler's syndrome | Kindler's syndrome (disorder) | POIKILODERMA, CONGENITAL, WITH BULLAE, WEARY TYPE | POIKILODERMA, HEREDITARY ACROKERATOTIC | Poikiloderma of Kindler | Poikiloderma, congenital, with bullae, weary type | Poikiloderma, hereditary acrokeratotic MSH2017_2016_08_12:C536321|OMIM2016_04_17:173650|OMIM2016_04_17:607900|SNOMEDCT_US_2016_09_01:238836000 C1333967 Inflammatory pseudotumor of liver Hepatic Inflammatory Myofibroblastic Tumor | Inflammatory Pseudotumor of Liver | Inflammatory Pseudotumor of the Liver | Inflammatory pseudotumor of liver | Inflammatory pseudotumor of liver (disorder) | Inflammatory pseudotumour of liver | Liver Inflammatory Myofibroblastic Tumor | Liver Inflammatory Pseudotumor NCI2016_02D:A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. | SNOMEDCT_US_2016_09_01:A rare benign tumor-like lesion. Approximately 140 cases have been reported worldwide, with a higher prevalence for male adults of Asian origin and subjects affected by systemic diseases such as rheumatoid arthritis. There are two clinical presentations. The active form most commonly manifests with abdominal pain, fever and loss of body weight. The second form is usually clinically silent. The etiopathogenesis remains unclear. | SNOMEDCT_US_2016_09_01:A rare benign tumour-like lesion. Approximately 140 cases have been reported worldwide, with a higher prevalence for male adults of Asian origin and subjects affected by systemic diseases such as rheumatoid arthritis. There are two clinical presentations. The active form most commonly manifests with abdominal pain, fever and loss of body weight. The second form is usually clinically silent. The aetiopathogenesis remains unclear. SNOMEDCT_US_2016_09_01:717329009 C0263498 Premature canities Early graying | Greyness, hair (premature) | HAIR GRAYING PREMATURE | Hair premature grayness | Premature canities | Premature canities (disorder) | Premature graying | Premature graying of hair | Premature graying of the hair | Premature grayness of hair | Premature greying | Premature hair graying | gray hair premature | graying hair premature | grey premature | hair graying premature | premature graying | premature graying hair | premature graying of hair | premature graying of hair (physical finding) | premature greying | premature hair graying HPO2016_07_04:Development of gray hair at a younger than normal age. [HPO:probinson] HPO2016_07_04:HP:0002216|ICD10CM_2017:L67.1|OMIM2016_04_17:MTHU000437|OMIM2016_04_17:MTHU007789|OMIM2016_04_17:MTHU009590|OMIM2016_04_17:MTHU026570|SNOMEDCT_US_2016_09_01:12506003|SNOMEDCT_US_2016_09_01:387833009 C0235857 Lacrimation decreased DECREASED LACRIMATION | Decreased lacrimation | Decreased tear secretion | Decreased tearing | LACRIMATION DECREASED | Lacrimation decreased | Lacrimation decreased (finding) | Lacrimation reduced | Reduced lacrimal gland secretion | Reduced tear production | TEARING DECREASED | Tearing decreased | decreased lacrimation | decreased lacrimation (physical finding) | decreased tearing | decreased tears | decreased; tear secretion | reduced tear production | tear secretion; decreased HPO2016_07_04:Abnormally decreased lacrimation, that is, reduced ability to produce tears. [HPO:probinson] HPO2016_07_04:HP:0000633|OMIM2016_04_17:MTHU012158|OMIM2016_04_17:MTHU013777 C1708718 Localized non-resectable adult hepatocellular carcinoma Localized Non-Resectable Adult Hepatocellular Carcinoma | Localized Unresectable Adult Hepatocellular Carcinoma NCI2016_02D:A localized hepatocellular carcinoma that occurs during adulthood and it is not amenable to surgical resection. C1840378 Brachycephalofrontonasal dysplasia BRACHYCEPHALOFRONTONASAL DYSPLASIA | Brachycephalofrontonasal dysplasia | HYPERTELORISM, TEEBI TYPE | Hypertelorism, Teebi type | Teebi hypertelorism syndrome MSH2017_2016_08_12:C537085|OMIM2016_04_17:145420 C3273135 Extrahepatic bile duct papillary neoplasm with an associated invasive carcinoma Extrahepatic Bile Duct Papillary Neoplasm with an Associated Invasive Carcinoma NCI2016_02D:A papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts and it is associated with an invasive carcinomatous component. The carcinomatous component is an adenocarcinoma. C0162292 External ophthalmoplegia EXTRAOCULAR PALSY | External Ophthalmoplegia | External Ophthalmoplegias | External ophthalmoplegia | External ophthalmoplegia (disorder) | External ophthalmoplegia NOS | Extraocular palsy | OPHTHALMOPLEGIA EXTERNA | Ophthalmoplegia externa | Ophthalmoplegia syndrome, external | Ophthalmoplegia, External | Ophthalmoplegia, external | Ophthalmoplegias, External | PALSY EXTRAOCULAR | Palsy extraocular | Paralysis of the extraocular muscles | external ophthalmoplegia | external ophthalmoplegia (diagnosis) | external; ophthalmoplegia | ophthalmoplegia; external HPO2016_07_04:Paralysis of the external ocular muscles. [HPO:probinson] HPO2016_07_04:HP:0000544|ICD10CM_2017:H49.88|ICD9CM_2014:378.55|MSH2017_2016_08_12:D009886|OMIM2016_04_17:MTHU036444|OMIM2016_04_17:MTHU049740|SNOMEDCT_US_2016_09_01:19373007 C0018018 Goat disease Caprine Disease | Caprine Diseases | Disease, Caprine | Disease, Goat | Diseases, Caprine | Diseases, Goat | Goat Disease | Goat Diseases | Goats--Diseases | goat disease MSH2017_2016_08_12:Diseases of the domestic or wild goat of the genus Capra. MSH2017_2016_08_12:D015511 C0795950 Corpus callosum agenesis neuronopathy ACCPN | AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY | ANDERMANN SYNDROME | Agenesis of Corpus Callosum with Neuronopathy | Agenesis of Corpus Callosum with Peripheral Neuropathy | Agenesis of Corpus Callosum with Polyneuropathy | Agenesis of corpus callosum with peripheral neuropathy | Agenesis of corpus callosum with peripheral neuropathy (disorder) | Agenesis of corpus callosum with polyneuropathy | Agenesis of the corpus callosum with peripheral neuropathy | Andermann syndrome | CHARLEVOIX DISEASE | CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY | Charlevoix disease | Corpus Callosum, Agenesis of, with Neuronopathy | Corpus callosum agenesis neuronopathy | Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum | POLYNEUROPATHY, SENSORIMOTOR, WITH OR WITHOUT AGENESIS OF THE CORPUS CALLOSUM | Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum JABL99:Agenesis of the corpus callosum with mental retardation and progressive sensorimotor neuropathy. The syndrome was first observed in children in a family from Charlevoix County in the province of Quebec in Canada and was traced to a couple married in 1637. It was later reported in other parts MSH2017_2016_08_12:C536446|OMIM2016_04_17:218000|OMIM2016_04_17:604878|SNOMEDCT_US_2016_09_01:702439002 C1837826 Lower eyelid coloboma Cleft lower eyelid | Coloboma of lower eyelid | Coloboma, lower eyelid | Full thickness defect of the lower eyelid | Lower eyelid coloboma | Lower lid coloboma | Notched lower eyelid HPO2016_07_04:A short discontinuity of the margin of the lower eyelid. [HPO:probinson] HPO2016_07_04:HP:0000652|OMIM2016_04_17:MTHU002112|OMIM2016_04_17:MTHU017289|OMIM2016_04_17:MTHU032226 C1711391 Recurrent adult hepatocellular carcinoma Recurrent Adult Hepatocellular Carcinoma NCI2016_02D:A hepatocellular carcinoma that occurs during adulthood and has recurred after a period of remission. C0543533 Hyperlysinemia, type i ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCY | HYPERLYSINEMIA, TYPE I | Hyperlysinemia, type I | L-LYSINE:NAD-OXIDO-REDUCTASE DEFICIENCY | LYSINE INTOLERANCE | LYSINE:ALPHA-KETOGLUTARATE REDUCTASE DEFICIENCY OMIM2016_04_17:238700|OMIM2016_04_17:605113 C1842914 Adult-onset vitelliform macular dystrophy AOFMD | AVMD | Adult Onset Vitelliform Macular Dystrophy | Adult vitelliform macular dystrophy | Adult vitelliform macular dystrophy (disorder) | Adult-Onset Foveomacular Dystrophies | Adult-Onset Foveomacular Dystrophy | Adult-Onset Vitelliform Macular Dystrophy | Adult-onset vitelliform macular dystrophy | Dystrophies, Adult-Onset Foveomacular | Dystrophy, Adult-Onset Foveomacular | FOVEOMACULAR DYSTROPHY, ADULT-ONSET | FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION | Foveomacular Dystrophies, Adult-Onset | Foveomacular Dystrophy, Adult Onset | Foveomacular Dystrophy, Adult-Onset | Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization | MACULAR DYSTROPHY, VITELLIFORM, 3 | Macular Dystrophy, Vitelliform, Adult-Onset | VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET | VMD3 | Vitelliform Macular Dystrophy, Adult Onset | Vitelliform Macular Dystrophy, Adult-Onset | adult onset vitelliform dystrophy | adult onset vitelliform dystrophy (diagnosis) MSH2017_2016_08_12:D057826|OMIM2016_04_17:179605|OMIM2016_04_17:608161|SNOMEDCT_US_2016_09_01:232049001 C0279700 Parathyroid transitional clear cell adenoma Clear Cell Adenoma of Parathyroid | Clear Cell Adenoma of Parathyroid Gland | Clear Cell Adenoma of the Parathyroid | Clear Cell Adenoma of the Parathyroid Gland | Parathyroid Clear Cell Adenoma | Parathyroid Gland Clear Cell Adenoma | Parathyroid Gland Transitional Clear Cell Adenoma | Parathyroid Transitional Clear Cell Adenoma | Parathyroid transitional clear cell adenoma | Transitional Clear Cell Adenoma of Parathyroid | Transitional Clear Cell Adenoma of Parathyroid Gland | Transitional Clear Cell Adenoma of the Parathyroid | Transitional Clear Cell Adenoma of the Parathyroid Gland | parathyroid transitional clear cell adenoma | transitional clear cell adenoma of the parathyroid NCI2016_02D:A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm. C1857790 Thoracic scoliosis Thoracic scoliosis | scoliosis thoracic region | thoracic scoliosis | thoracic scoliosis (diagnosis) HPO2016_07_04:HP:0002943|OMIM2016_04_17:MTHU000291 C3241980 Bronchiolitis; fibrosa obliterans Bronchiolitis fibrosa obliterans | Bronchiolitis fibrosa obliterans (disorder) | bronchiolitis; fibrosa obliterans | fibrosa obliterans; bronchiolitis SNOMEDCT_US_2016_09_01:31886003 C2217040 Malignant neoplasm of large intestine stage iv Stage IV Colon Cancer | Stage IV Colon Cancer AJCC v7 | colon cancer stage IV | malignant neoplasm of large intestine stage IV | malignant neoplasm of large intestine stage IV (diagnosis) | malignant tumor of large intestine stage IV NCI2016_02D:Stage IV includes: IVA: (Any T, Any N, M1a); IVB: (Any T, Any N, M1b). M1a: Metastasis confined to one organ or site (e.g., liver, lung, ovary, nonregional node). M1b: Metastases in more than one organ/site or the peritoneum. (AJCC 7th ed.) C0152077 Dyshormogenetic goitre Dyshormogenetic goiter | Dyshormogenetic goitre | Dyshormonogenic goiter | Dyshormonogenic goiter (disorder) | Dyshormonogenic goitre | dyshormogenetic; goiter | struma; dyshormogenetic ICD10CM_2017:E07.1|ICD9CM_2014:246.1|SNOMEDCT_US_2016_09_01:190304001 C0265283 Atelosteogenesis, type 1 AO1 | AOI | ATELOSTEOGENESIS, TYPE I | Atelosteogenesis | Atelosteogenesis (disorder) | Atelosteogenesis Type 1 | Atelosteogenesis Type I | Atelosteogenesis type 1 | Atelosteogenesis, Type I | Atelosteogenesis, type 1 | Atelosteogenesis/diastrophic dysplasia group | Atelosteogenesis/diastrophic dysplasia group (disorder) | GIANT CELL CHONDRODYSPLASIA | Giant cell chondrodysplasia | SPONDYLOHUMEROFEMORAL HYPOPLASIA | Spondylohumerofemoral hypoplasia MSH2017_2016_08_12:C535396|OMIM2016_04_17:108720|OMIM2016_04_17:603381|SNOMEDCT_US_2016_09_01:278711005|SNOMEDCT_US_2016_09_01:43814000 C1859711 Arthrogryposis multiplex congenita with whistling face ARTHROGRYPOSIS, WHISTLING FACE, AND DEVELOPMENTAL RETARDATION | Arthrogryposis Multiplex Congenita With Whistling Face | Arthrogryposis multiplex congenita whistling face | ILLUM SYNDROME | Illium syndrome | Illum Syndrome | Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system MSH2017_2016_08_12:C538401|OMIM2016_04_17:208155 C0852866 Cervical cord compression Cervical cord compression | Cervical cord compression myelopathy HPO2016_07_04:Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness. [HPO:probinson] HPO2016_07_04:HP:0002341|OMIM2016_04_17:MTHU003637|OMIM2016_04_17:MTHU015873 C1838993 Episodic vomiting Episodic vomiting | Vomiting, episodic HPO2016_07_04:Paroxysmal, recurrent episodes of vomiting. [HPO:curators] HPO2016_07_04:HP:0002572|OMIM2016_04_17:MTHU006743|OMIM2016_04_17:MTHU023294 C1848917 Tay-sachs disease, pseudo-ab variant TAY-SACHS DISEASE, PSEUDO-AB VARIANT | Tay-Sachs Disease, Pseudo-AB Variant MSH2017_2016_08_12:C564786|OMIM2016_04_17:272800 C0002873 Anemia of chronic disease ANEMIA CHRONIC DISEASE | ANEMIA OF CHRONIC DISEASE | Anaemia of chronic disease | Anaemia of chronic disorder | Anaemia of chronic disorder (disorder) | Anaemia of chronic disorder, NOS | Anaemia of systemic disease | Anaemia;chronic disease | Anemia Of Chronic Disease | Anemia of chronic disease | Anemia of chronic disease (disorder) | Anemia of chronic disease [Ambiguous] | Anemia of chronic disorder | Anemia of chronic disorder (disorder) | Anemia of chronic disorder, NOS | Anemia of chronic disorder, NOS (disorder) | Anemia of systemic disease | Secondary anemia | Secondary anemia (disorder) | acd | acds | anaemia chronic disease | anaemia chronic diseases | anaemia of chronic disease | anemia chronic disease | anemia chronic diseases | anemia of chronic disease | anemia of chronic disease (diagnosis) | anemias chronic disease | chronic anemia disease | chronic disease anemia ICD9CM_2014:285.2|SNOMEDCT_US_2016_09_01:234347009|SNOMEDCT_US_2016_09_01:31000119100|SNOMEDCT_US_2016_09_01:367511008|SNOMEDCT_US_2016_09_01:393572004|SNOMEDCT_US_2016_09_01:76032001 C4225321 Zimmermann-laband syndrome 2 ZIMMERMANN-LABAND SYNDROME 2 | ZLS2 OMIM2016_04_17:606939|OMIM2016_04_17:616455 C1334688 Megaloblastic erythroid hyperplasia Megaloblastic Erythroid Hyperplasia | Megaloblastic erythroid hyperplasia HPO2016_07_04:HP:0200143 C0037773 Spastic paraplegia, hereditary CMT WITH PYRAMIDAL FEATURES | CMT with Pyramidal Features | Familial spastic paraplegia syndrome | HEREDITARY MOTOR AND SENSORY NEUROPATHY V | HMSN 5 | HMSN Type V | HMSN V | HMSN V (Hereditary Motor and Sensory Neuropathy Type V) | HMSN5 | HSMN V | HSP - Hereditary spastic paraplegia | Hereditary Motor And Sensory Neuropathy V | Hereditary Motor Sensory Neuropathy with Pyramidal Signs | Hereditary Motor and Sensory Neuropathy 5 | Hereditary Motor-Sensory Neuropathy with Pyramidal Signs | Hereditary Spastic Paraplegia | Hereditary Spastic Paraplegias | Hereditary motor and sensory neuropathy type V | Hereditary motor and sensory neuropathy, type V | Hereditary motor-sensory neuropathy with pyramidal signs | Hereditary sensory-motor neuropathy, type 5 | Hereditary sensory-motor neuropathy, type V | Hereditary sensory-motor neuropathy, type V (disorder) | Hereditary spastic paraplegia | Hereditary spastic paraplegia (disorder) | Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia | Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia | PARALYSIS, SPASTIC SPINAL FAMILIAL | PARAPLEGIA, SPASMODIC INFANTILE | PARAPLEGIA, SPASTIC CONGENITAL | PARAPLEGIA, SPASTIC HEREDITARY | Paraplegia, Hereditary Spastic | Paraplegia, Spastic, Hereditary | Paraplegias, Hereditary Spastic | Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy | Spastic Paraplegia, Hereditary | Spastic Paraplegia, Hereditary [Disease/Finding] | Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy | Spastic Paraplegias, Hereditary | Spastic congenital paraplegia | Spastic paraplegia with hypertrophic motor-sensory neuropathy, type 5 | Spastic paraplegia with hypertrophic sensory-motor neuropathy, type V | Strumpell disease | Strumpell-Lorrain disease | Type V Hereditary Motor and Sensory Neuropathy | Type V, HMSN | congenital; paraplegia, spastic | hereditary spastic paraplegia | hereditary spastic paraplegias | paralysis; familial, spastic | paralysis; spastic, hereditary | paraplegia; spastic, hereditary | spastic paraplegia hereditary | spastic; paralysis, hereditary | spastic; paraplegia, hereditary MSH2017_2016_08_12:A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8) ICD10CM_2017:G11.4|ICD9CM_2014:334.1|MSH2017_2016_08_12:D015419|OMIM2016_04_17:600361|SNOMEDCT_US_2016_09_01:155013000|SNOMEDCT_US_2016_09_01:267692008|SNOMEDCT_US_2016_09_01:39912006|SNOMEDCT_US_2016_09_01:76043009 C0149765 Psychogenic pruritis PSYCHOGENIC PRURITIS | Pruritus sine materia | Psychogenic pruritus | Psychogenic pruritus (disorder) | [X]Psychogenic pruritis | psychogenic pruritis | psychogenic pruritis (diagnosis) | psychogenic pruritus ICD10CM_2017:F45.8|SNOMEDCT_US_2016_09_01:154925009|SNOMEDCT_US_2016_09_01:191966002|SNOMEDCT_US_2016_09_01:192436003|SNOMEDCT_US_2016_09_01:268774006 C2702824 Compression arthralgia of left hand compression arthralgia of left hand | compression arthralgia of left hand (diagnosis) C1418479 Pex7 gene PEROXIN 7 | PEROXISOMAL PTS2 RECEPTOR | PEROXISOME BIOGENESIS FACTOR 7 | PEX7 | PEX7 gene | PTS2R | RD | Refsum disease | peroxisomal biogenesis factor 7 OMIM2016_04_17:601757 C4054576 Malignant osteoclastic giant cell-rich tumor of bone Malignant Osteoclastic Giant Cell-Rich Tumor of Bone NCI2016_02D:A giant cell tumor that arises from the bone and is characterized by the presence of a malignant cellular component. C2713347 7-dehydrocholesterol reductase deficiency 7-Dehydrocholesterol Reductase Deficiencies | 7-Dehydrocholesterol Reductase Deficiency | Deficiencies, 7-Dehydrocholesterol Reductase | Deficiency, 7-Dehydrocholesterol Reductase | Reductase Deficiencies, 7-Dehydrocholesterol | Reductase Deficiency, 7-Dehydrocholesterol MSH2017_2016_08_12:D019082 C1279296 Chronic leukemia (category) CHRONIC LEUKEMIA | Chronic Leukemia | Chronic leukaemia | Chronic leukaemia (category) | Chronic leukaemia - category | Chronic leukaemia -RETIRED- | Chronic leukaemia NOS | Chronic leukaemia NOS (disorder) | Chronic leukaemia of unspecified cell type | Chronic leukaemia, NOS | Chronic leukaemia, disease | Chronic leukemia | Chronic leukemia (category) | Chronic leukemia (morphologic abnormality) | Chronic leukemia - category | Chronic leukemia - category (morphologic abnormality) | Chronic leukemia -RETIRED- | Chronic leukemia NOS | Chronic leukemia NOS (disorder) | Chronic leukemia of unspecified cell type | Chronic leukemia, NOS | Chronic leukemia, disease | Chronic leukemia, disease (disorder) | LEUKEMIA CHRONIC | Leukaemia chronic | Leukaemia of unspecified cell type, chronic | Leukemia chronic | Leukemia of unspecified cell type, chronic | [M]Chronic leukaemia NOS | [M]Chronic leukaemia NOS (disorder) | [M]Chronic leukemia NOS | chronic leukaemia | chronic leukemia | chronic leukemia (diagnosis) | chronic leukemias | chronic; leukemia | leukemia chronic | leukemia, chronic | leukemia; chronic CSP2006:leukemia in which the involved cell is well differentiated, usually B-lymphocytes, but immunologically incompetent; types distinguished include chronic granulocytic, chronic lymphocytic, chronic myelomonocytic, eosinophilic and hairy cell leukemia. | NCI2016_02D:A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. | NCI2016_NCI-GLOSS_1602D:A slowly progressing cancer that starts in blood-forming tissues such as the bone marrow, and causes large numbers of white blood cells to be produced and enter the blood stream. HPO2016_07_04:HP:0005558|ICD10CM_2017:C95.1|ICD10CM_2017:C95.10|ICD9CM_2014:208.1|SNOMEDCT_US_2016_09_01:128933000|SNOMEDCT_US_2016_09_01:154600002|SNOMEDCT_US_2016_09_01:188764001|SNOMEDCT_US_2016_09_01:190027002|SNOMEDCT_US_2016_09_01:2557004|SNOMEDCT_US_2016_09_01:92812005 C0338078 Non-functioning pituitary gland neoplasm Clinically silent pituitary adenoma | Functionless Adenoma of Pituitary | Functionless Adenoma of Pituitary Gland | Functionless Adenoma of the Pituitary | Functionless Adenoma of the Pituitary Gland | Functionless Pituitary Adenoma | Functionless Pituitary Gland Adenoma | Functionless pituitary adenoma | Functionless pituitary adenoma (disorder) | Hormonally silent pituitary adenoma | Non-Functioning Adenoma of Pituitary | Non-Functioning Adenoma of Pituitary Gland | Non-Functioning Adenoma of the Pituitary | Non-Functioning Adenoma of the Pituitary Gland | Non-Functioning Neoplasm of Pituitary | Non-Functioning Neoplasm of Pituitary Gland | Non-Functioning Neoplasm of the Pituitary | Non-Functioning Neoplasm of the Pituitary Gland | Non-Functioning Pituitary Adenoma | Non-Functioning Pituitary Gland Adenoma | Non-Functioning Pituitary Gland Neoplasm | Non-Functioning Pituitary Gland Tumor | Non-Functioning Pituitary Neoplasm | Non-Functioning Pituitary Tumor | Non-Functioning Tumor of Pituitary | Non-Functioning Tumor of Pituitary Gland | Non-Functioning Tumor of the Pituitary | Non-Functioning Tumor of the Pituitary Gland | Non-Secretory Adenoma of Pituitary | Non-Secretory Adenoma of Pituitary Gland | Non-Secretory Adenoma of the Pituitary | Non-Secretory Adenoma of the Pituitary Gland | Non-Secretory Pituitary Adenoma | Non-Secretory Pituitary Gland Adenoma | Non-functional pituitary adenoma | Non-functioning pituitary adenoma | Non-functioning pituitary tumor | Non-functioning pituitary tumour | Non-secretory adenoma of pituitary | Nonfunctioning Pituitary Tumor | Null cell pituitary adenoma | Pituitary null cell adenoma | Silent pituitary adenoma | non-functioning pituitary tumor | non-secretory adenoma of pituitary gland | non-secretory adenoma of pituitary gland (diagnosis) | nonfunctioning pituitary adenoma | nonfunctioning pituitary tumor | nonfunctioning pituitary tumors | pituitary adenoma, nonfunctioning | pituitary non-secretory (chromophobe) adenoma | pituitary tumor, nonfunctioning HPO2016_07_04:A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess. [DDD:spark] | NCI2016_02D:A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome. | NCI2016_02D:A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome. HPO2016_07_04:HP:0011761|SNOMEDCT_US_2016_09_01:254962005 C0238288 Muscular dystrophy, facioscapulohumeral Atrophies, Facioscapulohumeral | Atrophy, Facioscapulohumeral | Dystrophies, Facioscapulohumeral Muscular | Dystrophies, Landouzy-Dejerine | Dystrophy, Facioscapulohumeral Muscular | Dystrophy, Landouzy-Dejerine | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY | FMD | FMD - Facioscapulohumeral muscular dystrophy | FSH - Facioscapulohumeral muscular dystrophy | FSH Muscular Dystrophy | FSHD | FSHD - Facioscapulohumeral muscular dystrophy | Facio-Scapulo-Humeral Dystrophy | Facioscapulohumeral Atrophies | Facioscapulohumeral Atrophy | Facioscapulohumeral Muscular Dystrophies | Facioscapulohumeral Muscular Dystrophy | Facioscapulohumeral Type Progressive Muscular Dystrophy | Facioscapulohumeral muscular dystrophy | Facioscapulohumeral muscular dystrophy (disorder) | Facioscapuloperoneal Muscular Dystrophy | Fascioscapulohumeral muscular dystrophy | LANDOUZY-DEJERINE MUSCULAR DYSTROPHY | Landouzy Dejerine Dystrophy | Landouzy Dejerine muscular dystrophy | Landouzy-Dejerine Dystrophies | Landouzy-Dejerine Dystrophy | Landouzy-Dejerine muscular dystrophy | Landouzy-D茅jerine; atrophy | Landouzy-D茅jerine; dystrophy | Landouzy-D茅jerine; dystrophy or facioscapulohumeral atrophy | Landouzy-D茅j茅rine muscular dystrophy | MUSCULAR DYSTROPHY FACIOSCAPULOHUMERAL | MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL | Muscular Dystrophies, Facioscapulohumeral | Muscular Dystrophy, Facioscapulohumeral | Muscular Dystrophy, Facioscapulohumeral [Disease/Finding] | Muscular Dystrophy, Landouzy Dejerine | Muscular dystrophy, Landouzy-Dejerine | Muscular dystrophy, fascioscapulohumeral | Progressive Muscular Dystrophy, Facioscapulohumeral Type | Progressive muscular dystrophy, Landouzy-Dejerine type | Progressive muscular dystrophy, facioscapulohumeral type | atrophy; Landouzy-D茅jerine | atrophy; facioscapulohumeral | dystrophy; Landouzy-D茅jerine | dystrophy; muscular, Landouzy-D茅jerine-type | dystrophy; muscular, facioscapulohumeral | facioscapulohumeral muscular dystrophy | facioscapulohumeral; atrophy | facioscapulohumeral; myopathy | fascioscapulohumeral muscular dystrophy | fascioscapulohumeral muscular dystrophy (diagnosis) | fascioscapulohumeral progressive muscular dystrophy | muscular; dystrophy, Landouzy-D茅jerine-type | muscular; dystrophy, facioscapulohumeral | myopathy; facioscapulohumeral MSH2017_2016_08_12:An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420) | NCI2016_02D:An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well. ICD10CM_2017:G71.0|MSH2017_2016_08_12:D020391|OMIM2016_04_17:158900|SNOMEDCT_US_2016_09_01:399091004|SNOMEDCT_US_2016_09_01:56096001 C1856749 Hypoplastic-absent toenails Absent/small toenails | Absent/underdeveloped toenails | Aplastic/hypoplastic toenail | Aplastic/hypoplastic toenails | Hypoplastic-absent toenails HPO2016_07_04:Absence or underdevelopment of the toenail. [HPO:probinson] HPO2016_07_04:HP:0010624|OMIM2016_04_17:MTHU013016|OMIM2016_04_17:MTHU015396 C0269185 Uterus retroverted Retroversion of uterus | Retroversion of uterus (disorder) | Retroversion, Uterine | Retroversion;uterus | Retroversions, Uterine | Retroverted Uterus | Retroverted uterus | Retroverted uterus (disorder) | Retroverted uterus (finding) | Tipped Uterus | UTERUS RETROVERTED | Uterine Retroversion | Uterine Retroversion [Disease/Finding] | Uterine Retroversions | Uterine retroversion | Uterus, Retroverted | Uterus, Tipped | retroversion of uterus | retroversion of uterus (diagnosis) | retroversion uterus | retroversion; uterus | retrovert uterus | retroverted uterus | retroverted uterus (physical finding) | the uterus was retroverted | uterine retroversion | uterus position retroversion | uterus retroversion | uterus retroverted | uterus; retroversion MSH2017_2016_08_12:A condition in which the UTERUS is found tilted backward toward the spine. The uterus is more commonly found in a straight vertical or anteverted (tipped forward) position. Although retroverted uterus is a normal variant position without symptoms, it is sometimes associated with pain, discomfort and other pregnancy complications. ICD10CM_2017:N85.4|MSH2017_2016_08_12:D060725|SNOMEDCT_US_2016_09_01:15295001|SNOMEDCT_US_2016_09_01:156008008|SNOMEDCT_US_2016_09_01:271689000 C0678051 Adrenocortical carcinoma, stage ii Stage II Adrenal Cortex Carcinoma | Stage II Adrenal Cortex Carcinoma AJCC v7 | Stage II Adrenocortical Carcinoma | Stage II Carcinoma of Adrenal Cortex | Stage II Carcinoma of the Adrenal Cortex | adrenocortical carcinoma, stage II | carcinoma, adrenocortical stage II | stage II adrenocortical cancer | stage II adrenocortical carcinoma NCI2016_02D:Stage II includes: T2, N0, M0. T2: Tumor greater than 5 cm, no extra-adrenal invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.) | NCI2016_NCI-GLOSS_1602D:Cancer of the adrenal gland that is larger than 5 centimeters (about 2 inches) and is found in the adrenal gland only. C0035592 Infection, rickettsiaceae Infection, Rickettsiaceae | Infections, Rickettsiaceae | Rickettsiaceae Infection | Rickettsiaceae Infections | Rickettsiaceae Infections [Disease/Finding] MSH2017_2016_08_12:Infections with bacteria of the family RICKETTSIACEAE. MSH2017_2016_08_12:D012288 C4225275 Mental retardation, autosomal dominant 40 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 | MRD40 OMIM2016_04_17:616327|OMIM2016_04_17:616579 C0865849 Diffuse pulmonary fibrosis Diffuse Pulmonary Fibrosis | diffuse pulmonary fibrosis NCI2016_02D:Diffuse replacement of the lung tissue by connective tissue. C4023795 Ectopic thymus tissue Abnormal thymus position | Ectopic thymus tissue HPO2016_07_04:The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend. [HPO:curators] HPO2016_07_04:HP:0010517 C2713443 Familial intestinal polyposis Familial Intestinal Polyposes | Familial Intestinal Polyposis | Familial intestinal polyposis | Intestinal Polyposes, Familial | Intestinal Polyposis, Familial MSH2017_2016_08_12:D011125|SNOMEDCT_US_2016_09_01:70921007 C1836940 Excess nuchal skin Excess nuchal skin | Thickened nuchal skin | Thickened nuchal skin fold | Thickened skin folds of neck | Thickened skin over the neck HPO2016_07_04:A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (pmid:16100637). [HPO:probinson, pmid:16100637] HPO2016_07_04:HP:0000474|OMIM2016_04_17:MTHU001453 C0153536 Malignant melanoma of skin of lower limb Malignant melanoma of skin of lower limb | Malignant melanoma of skin of lower limb (disorder) | Malignant melanoma of skin of lower limb, NOS | malignant melanoma of skin of lower limb | malignant melanoma of skin of lower limb (diagnosis) | melanoma of skin of lower extremities SNOMEDCT_US_2016_09_01:93641007 C4021570 Undetectable light- and dark-adapted electroretinogram Absent cone and rod functions by electroretinogram | Absent rod-and cone-mediated responses on ERG | Undetectable light- and dark-adapted electroretinogram HPO2016_07_04:Absence of the combined rod-and-code response on electroretinogram. [HPO:probinson] HPO2016_07_04:HP:0007688 C0344963 Hypoplastic right heart syndrome (Right hypoplastic heart syndrome) or (pseudotruncus arteriosus) | (Right hypoplastic heart syndrome) or (pseudotruncus arteriosus) (disorder) | Hypoplastic Right Heart Syndrome | Hypoplastic right heart syndrome | Pseudotruncus arteriosus | Right Hypoplastic Heart Syndrome | Right hypoplastic heart syndr. | Right hypoplastic heart syndrome | Right hypoplastic heart syndrome (disorder) | heart; hypoplasia, right heart (syndrome) | heart; hypoplasia, right heart syndrome | hypoplasia; heart, right heart (syndrome) | hypoplasia; heart, right heart syndrome | hypoplasia; right heart syndrome | hypoplastic right heart syndrome | hypoplastic right heart syndrome (diagnosis) | hypoplastic; right heart, syndrome | pseudotruncus arteriosus | right heart syndrome; hypoplasia | syndrome; heart, hypoplastic right | syndrome; hypoplastic right-heart | syndrome; right heart, hypoplastic NCI2016_02D:A rare congenital cardiovascular disorder characterized by severe underdevelopment of the right side of the heart. The infants develop cyanosis shortly after birth. It is a condition that requires immediate emergency treatment. HPO2016_07_04:HP:0010954|ICD10CM_2017:Q22.6|SNOMEDCT_US_2016_09_01:204348000|SNOMEDCT_US_2016_09_01:268180007 C1968893 Preauricular tag, isolated, autosomal dominant, 1 PREAURICULAR TAG, ISOLATED, AUTOSOMAL DOMINANT, 1 | Preauricular Tag, Isolated, Autosomal Dominant, 1 MSH2017_2016_08_12:C566904|OMIM2016_04_17:610420 C0024622 Malignant neoplasm of retina Cancer of the Retina | Cancer, Retinal | Cancers, Retinal | Malignant Neoplasm of Retina | Malignant Neoplasm of the Retina | Malignant Retina Neoplasm | Malignant Retina Tumor | Malignant Retinal Neoplasm | Malignant Retinal Tumor | Malignant Tumor of Retina | Malignant Tumor of the Retina | Malignant neoplasm of retina | Malignant neoplasm of retina NOS | Malignant retinal tumor | Malignant retinal tumour | Malignant tumor of retina | Malignant tumor of retina (disorder) | Malignant tumour of retina | Retina--Cancer | Retinal Cancer | Retinal Cancers | malignant neoplasm of retina | malignant neoplasm of retina (diagnosis) | malignant retinal neoplasm | malignant tumor of retina NCI2016_02D:Abnormal growth of cells comprising the retina with malignant characteristics. ICD10CM_2017:C69.2|ICD9CM_2014:190.5|MSH2017_2016_08_12:D019572|SNOMEDCT_US_2016_09_01:363465007|SNOMEDCT_US_2016_09_01:93987004 C0017412 Genital diseases, male DISEASES OF MALE GENITAL ORGANS | DISEASES OF THE MALE GENITAL ORGANS | DISEASES OF THE MALE GENITAL ORGANS: GENERAL TERMS | Diseas/male genital organs | Disease of male genital organ | Disease of male genital organ (disorder) | Disease of male genital organs, NOS | Disease, Male Genital | Disease;genital;M | Diseases of male genital organs | Diseases, Male Genital | Disorder of male genital organ | Disorder of male genital organ (disorder) | Disorder of male genital organs, unspecified | Genital Disease, Male | Genital Diseases, Male | Genital Diseases, Male [Disease/Finding] | Genital disorder male | Genital disorder male NOS | Male Genital Disease | Male Genital Diseases | Male Genital Disorders | Male genital organ disease | Male genital organ disease NOS | Male genital organ disease NOS (disorder) | Male genital tract disorder | Male genital tract disorder (disorder) | Unspecified disorder of male genital organs | [X]Diseas/male genital organs | [X]Diseases of male genital organs | [X]Diseases of male genital organs (disorder) | disease (or disorder); genital organ, male | diseases genital male | diseases genital male organ | disorder of male genital organs | disorder of male genital organs (diagnosis) | disorders genitals male | genital disease male | genital organs; disorder, male | male genital disease | male genital diseases | male genital disorder | male genital disorders MSH2017_2016_08_12:Pathological processes involving the male reproductive tract (GENITALIA, MALE). ICD10CM_2017:N50.9|ICD9CM_2014:600-608.99|ICD9CM_2014:608.9|MSH2017_2016_08_12:D005832|SNOMEDCT_US_2016_09_01:155905004|SNOMEDCT_US_2016_09_01:155933004|SNOMEDCT_US_2016_09_01:155945008|SNOMEDCT_US_2016_09_01:198089001|SNOMEDCT_US_2016_09_01:198553004|SNOMEDCT_US_2016_09_01:64557000 C1378050 Oncocytic neoplasm ONCOCYTOMA, BENIGN | Oncocytic Neoplasm | Oncocytic Tumor | Oncocytoma NCI2016_02D:A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05) | NCI2016_CDISC_1602D:A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm (oncocytes). C0266387 Bicornuate uterus Bicornate uterus | Bicornate uterus (finding) | Bicornuate uterus | Bicornuate uterus (disorder) | Bicornuate uterus (pregnancy problem) | UTERUS BICORNUATE | Uterus - bicornuate | Uterus bicornis | Uterus, bicornuate vetularum | bicornate uterus | bicornis uterus | bicornis; bicornate uterus | bicornuate uterus | bicornuate uterus (diagnosis) | bircornate uterus | uterus bicornate | uterus bicornis | uterus bicornuate | uterus; bicornis HPO2016_07_04:The presence of a bicornuate uterus. [HPO:probinson] HPO2016_07_04:HP:0000813|ICD10CM_2017:Q51.3|ICD9CM_2014:752.34|OMIM2016_04_17:MTHU036799|SNOMEDCT_US_2016_09_01:156168009|SNOMEDCT_US_2016_09_01:156965006|SNOMEDCT_US_2016_09_01:248943005|SNOMEDCT_US_2016_09_01:267330008|SNOMEDCT_US_2016_09_01:268326008|SNOMEDCT_US_2016_09_01:31401003 C0017927 Glycogen storage disease type viii GSD VIII | Glycogen Storage Disease Type VIII | Glycogen Storage Disease Type VIII [Disease/Finding] | Glycogen storage disease type 8 | Glycogen storage disease type VIII | Glycogen storage disease type VIII (disorder) | Glycogen storage disease, type VIII | Glycogenosis 8 | Glycogenosis due to inactive hepatic glycogen phosphorylase | Glycogenosis due to inactive phosphorylase | Glycogenosis type VIII | Hepatic glycogen phosphorylase kinase deficiency | Hepatic glycogen phosphorylase kinase deficiency (disorder) | Hepatic glycogenosis | glycogen storage disease type VIII | glycogenosis type VIII CSP2006:x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity; symptoms are relatively mild, hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present; liver shrinkage occurs in response to glucagon. | MSH2017_2016_08_12:An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. MSH2017_2016_08_12:D006015|SNOMEDCT_US_2016_09_01:297255007|SNOMEDCT_US_2016_09_01:41527003 C0405088 Fatigue during pregnancy with postnatal complication Fatigue during pregnancy with postnatal complication | Fatigue during pregnancy with postnatal complication (disorder) | Fatigue+pregnancy+p/n complic. SNOMEDCT_US_2016_09_01:199124004 C0268609 Glutamate formiminotransferase deficiency Arakawa syndrome 1 | Deficiency of glutamate formiminotransferase | Deficiency of glutamate formyltransferase | Deficiency of glutamate formyltransferase (disorder) | FIGLU-URIA | FIGLU-Uria | FIGLUria | FORMIMINOGLUTAMIC ACIDURIA | FORMIMINOTRANSFERASE DEFICIENCY | Formiminoglutamic Aciduria | Formiminoglutamic aciduria | Formiminoglutamicaciduria (FIGLU-uria) | Formiminotransferase Deficiency | Formiminotransferase deficiency syndrome | GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY | Glutamate formiminotransferase deficiency | Glutamate formiminotransferase deficiency (disorder) | formiminoglutamicaciduria | formiminoglutamicaciduria (FIGLU-uria) | formiminotransferase deficiency | formiminotransferase deficiency (diagnosis) | formiminotransferase deficiency syndrome | glutamate formiminotransferase deficiency JABL99:A deficiency of the enzyme formiminotransferase associated with mental and physical retardation and cerebral defects. MSH2017_2016_08_12:C537425|OMIM2016_04_17:229100|OMIM2016_04_17:606806|SNOMEDCT_US_2016_09_01:124247003|SNOMEDCT_US_2016_09_01:59761008 C0238463 Papillary thyroid carcinoma CARCINOMA PAPILLARY THYROID | Carcinoma papillary thyroid | NMTC1 | PACT | PAPILLARY CARCINOMA OF THYROID | PTC | PTC - Papillary thyroid carcinoma | Papillary Cancer of Thyroid | Papillary Cancer of Thyroid Gland | Papillary Cancer of the Thyroid | Papillary Cancer of the Thyroid Gland | Papillary Carcinoma Of Thyroid | Papillary Carcinoma of Thyroid | Papillary Carcinoma of Thyroid Gland | Papillary Carcinoma of the Thyroid | Papillary Carcinoma of the Thyroid Gland | Papillary Thyroid Cancer | Papillary Thyroid Carcinoma | Papillary Thyroid Gland Carcinoma | Papillary carcinoma of thyroid | Papillary thyroid cancer | Papillary thyroid carcinoma | Papillary thyroid carcinoma (disorder) | THYROID CANCER PAPILLARY | THYROID CANCER, NONMEDULLARY, 1 | THYROID CANCER, PAPILLARY CARCINOMA | THYROID PAPILLARY CARCINOMA | THYROID, CARCINOMA, PAPILLARY | TPC | Thyroid Gland Papillary Carcinoma | Thyroid Papillary Carcinoma | Thyroid cancer, papillary | Thyroid carcinoma, papillary | Thyroid papillary carcinoma | cancer papillary thyroid | carcinoma papillary thyroid | papillary cancer thyroid | papillary carcinoma of the thyroid gland | papillary carcinoma of the thyroid gland (diagnosis) | papillary carcinoma of thyroid | papillary carcinoma of thyroid gland | papillary carcinoma thyroid | papillary thyroid cancer | papillary thyroid carcinoma | thyroid cancer papillary | thyroid cancer, papillary | thyroid papillary cancer | thyroid papillary carcinoma HPO2016_07_04:The presence of a papillary adenocarcinoma of the thyroid gland. [HPO:probinson] | NCI2016_02D:A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. | NCI2016_NCI-GLOSS_1602D:Cancer that forms in follicular cells in the thyroid and grows in small finger-like shapes. It grows slowly, is more common in women than in men, and often occurs before age 45. It is the most common type of thyroid cancer. HPO2016_07_04:HP:0002895|MSH2017_2016_08_12:C536915|OMIM2016_04_17:188550|OMIM2016_04_17:600635|OMIM2016_04_17:MTHU016124|OMIM2016_04_17:MTHU030731|OMIM2016_04_17:MTHU046261|OMIM2016_04_17:MTHU053126|SNOMEDCT_US_2016_09_01:255029007|SNOMEDCT_US_2016_09_01:4797003 C0040433 Tooth crowding Crowded dentition | Crowded teeth | Crowding | Crowding - teeth | Crowding of teeth | Crowding of teeth (disorder) | Crowding, Tooth | Crowdings, Tooth | Dental crowding | Dental overcrowding | Imbrication - teeth | Imbrication of teeth | Overcrowded teeth | Overcrowding of teeth | Teeth crowding | Tooth Crowding | Tooth crowding | Tooth crowding NOS | Tooth crowding NOS (disorder) | crowded teeth | crowding of teeth | crowding of teeth (diagnosis) | crowding of teeth (physical finding) | crowding teeth | crowding; teeth | imbrication, teeth | tooth crowding HPO2016_07_04:Overlapping teeth within an alveolar ridge. [pmid:19125428] | NCI2016_02D:The condition when the summation of the mesio distal width of the teeth is larger than the arch perimeter. HPO2016_07_04:HP:0000678|ICD9CM_2014:524.31|MSH2017_2016_08_12:D008310|OMIM2016_04_17:MTHU002031|OMIM2016_04_17:MTHU003865|OMIM2016_04_17:MTHU005403|OMIM2016_04_17:MTHU013203|OMIM2016_04_17:MTHU013631|OMIM2016_04_17:MTHU024773|OMIM2016_04_17:MTHU025655|SNOMEDCT_US_2016_09_01:12351004|SNOMEDCT_US_2016_09_01:196405009|SNOMEDCT_US_2016_09_01:196408006 C1842797 Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens like Exfoliative Ichthyosis, Autosomal Recessive, IBS-Like | Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like MSH2017_2016_08_12:C564309 C4225429 Ehlers-danlos syndrome classic type EDS I, FORMERLY | EDS II, FORMERLY | EDS1, FORMERLY | EDS2, FORMERLY | EHLERS DANLOS SYNDROME, MILD CLASSIC TYPE, FORMERLY | EHLERS DANLOS SYNDROME, MITIS TYPE, FORMERLY | EHLERS-DANLOS SYNDROME, CLASSIC TYPE | EHLERS-DANLOS SYNDROME, GRAVIS TYPE, FORMERLY | EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE, FORMERLY | EHLERS-DANLOS SYNDROME, TYPE I, FORMERLY | EHLERS-DANLOS SYNDROME, TYPE II, FORMERLY | Ehlers-Danlos syndrome classic type | Ehlers-Danlos syndrome classic type (disorder) | Ehlers-Danlos syndrome classical type SNOMEDCT_US_2016_09_01:A form of Ehlers-Danlos syndrome that affects the soft connective tissue and is characterised by skin hyperextensibility, widened atrophic scars and joint hypermobility. | SNOMEDCT_US_2016_09_01:A form of Ehlers-Danlos syndrome that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility. OMIM2016_04_17:120150|OMIM2016_04_17:120190|OMIM2016_04_17:120215|OMIM2016_04_17:130000|SNOMEDCT_US_2016_09_01:715318006 C1857186 Irregular lacy iliac crest Iliac crest serration | Irregular lacy iliac crest | Irregular, lacy iliac crests | Lacy appearance of iliac crest HPO2016_07_04:Irregularities of the iliac crest that produce the appearance of a lace border around it. [HPO:probinson] HPO2016_07_04:HP:0008786|OMIM2016_04_17:MTHU011603|OMIM2016_04_17:MTHU013378|OMIM2016_04_17:MTHU050530 C0861461 Colon nos cancer metastatic AJCC Stage IV Colon Cancer v6 | Astler-Coller D Colon Carcinoma | COLON NOS CANCER METASTATIC | Carcinoma colon Duke's D | Carcinoma of colon, stage IV | Carcinoma of colon, stage IV (finding) | Colon Cancer Stage IV AJCC v6 | Colon Cancer, Stage IV AJCC v6 | Colon cancer stage 4 | Colon carcinoma Duke's D | Dukes D Carcinoma of Colon | Dukes D Carcinoma of the Colon | Dukes D Colon Carcinoma | Dukes D Colonic Carcinoma | Stage IV Carcinoma of Colon AJCC v6 | Stage IV Carcinoma of the Colon AJCC v6 | Stage IV Colon Cancer AJCC v6 | Stage IV Colon Carcinoma | Stage IV Colon Carcinoma AJCC v6 | Stage IV Colonic Carcinoma AJCC v6 NCI2016_02D:Stage IV includes: (Any T, Any N, M1). M1: Distant metastasis. (AJCC 6th ed.) - 2003 SNOMEDCT_US_2016_09_01:422985007 C1518749 Ovarian yolk sac tumor, polyvesicular vitelline pattern Ovarian Yolk Sac Tumor, Polyvesicular Vitelline Pattern NCI2016_02D:A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues. C1845123 Hypotonia, neonatal, generalized Generalized low muscle tone in neonate | Generalized neonatal hypotonia | Hypotonia, neonatal, generalized HPO2016_07_04:Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. [HPO:probinson] HPO2016_07_04:HP:0008935|OMIM2016_04_17:MTHU008152 C1969086 Tyrosine kinase 2 deficiency HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE | HIES with Atypical Mycobacteriosis, Autosomal Recessive | HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE | Hyper-IgE Syndrome with Atypical Mycobacteriosis, Autosomal Recessive | IMD35 | IMMUNODEFICIENCY 35 | TYK2 DEFICIENCY | TYK2 Deficiency | TYROSINE KINASE 2 DEFICIENCY | Tyrosine Kinase 2 Deficiency MSH2017_2016_08_12:C566928|OMIM2016_04_17:176941|OMIM2016_04_17:611521 C1696708 Prehypertension Pre Hypertension | Pre-Hypertension | Pre-Hypertensions | Prehypertension | Prehypertension (finding) | Prehypertension [Disease/Finding] | Prehypertensions | prehypertension | prehypertension (diagnosis) MSH2017_2016_08_12:Blood pressure levels that are between normotension and hypertension. Individuals with prehypertension are at a higher risk for developing cardiovascular diseases. Generally, prehypertension is defined as SYSTOLIC PRESSURE of 131-139 mm Hg and/or DIASTOLIC PRESSURE of 81-89 when the optimal is 120/80 mm Hg. For diabetics and other metabolism diseases the prehypertension is around 110-129/70-79 mm Hg. | SCTSPA_2016_04_30:Promedio de dos o m谩s lecturas medidas correctamente en dos o m谩s visitas despu茅s de una medici贸n inicial de 120 a 139 mmHg de presi贸n sist贸lica o de 80 a 89 mmHg de presi贸n diast贸lica | SNOMEDCT_US_2016_09_01:Average of two or more properly measured readings at each of two or more visits after an initial screen with a systolic 120 to 139 mmHg or diastolic 80 to 89 mmHg. MSH2017_2016_08_12:D058246|SNOMEDCT_US_2016_09_01:702817009 C0036983 Septic shock SEPTIC SHOCK | SHOCK SEPTIC | Sepsis-associated hypotension | Septic Shock | Septic shock | Septic shock (disorder) | Septicaemic shock | Septicemic shock | Shock septic | Shock, Septic | Shock, Septic [Disease/Finding] | [D]Septic shock | [D]Septic shock (context-dependent category) | [D]Septic shock (situation) | [D]Septicaemic shock | [D]Septicemic shock | septic shock | septic shock (diagnosis) | septic; shock | septicemic shock | shock; septic CSP2006:shock caused by infection; frequently caused by gram negative bacteria, although some cases have been caused by other bacteria, viruses, fungi, and protozoa; characterized by fever, chills, tachycardia, tachypnea, and hypotension. | MSH2017_2016_08_12:Sepsis associated with HYPOTENSION or hypoperfusion despite adequate fluid resuscitation. Perfusion abnormalities may include, but are not limited to LACTIC ACIDOSIS; OLIGURIA; or acute alteration in mental status. | NCI2016_02D:A state of acute circulatory failure characterized by persistent arterial hypotension despite adequate fluid resuscitation or by tissue hypoperfusion unexplained by other causes.(NICHD) | NCI2016_NICHD_1602D:A state of acute circulatory failure characterized by persistent arterial hypotension despite adequate fluid resuscitation or by tissue hypoperfusion unexplained by other causes. ICD9CM_2014:785.52|MSH2017_2016_08_12:D012772|SNOMEDCT_US_2016_09_01:158359009|SNOMEDCT_US_2016_09_01:207031008|SNOMEDCT_US_2016_09_01:76571007 C1835934 Glomerulocystic kidney disease with hyperuricemia and isosthenuria GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA | Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria MSH2017_2016_08_12:C563693|OMIM2016_04_17:191845|OMIM2016_04_17:609886 C0206638 Giant cell tumor of bone BONE, GIANT CELL TUMOR | Bone giant cell tumor | Bone giant cell tumour | GIANT CELL TUMOR OF BONE | GTCT - Giant cell tumor of bone | Giant Cell Tumor of Bone | Giant Cell Tumor of Bone [Disease/Finding] | Giant Cell Tumor of the Bone | Giant cell bone tumor NOS | Giant cell bone tumour NOS | Giant cell tumor of bone | Giant cell tumor of bone (disorder) | Giant cell tumor of bone (morphologic abnormality) | Giant cell tumor of bone NOS | Giant cell tumor of bone, NOS | Giant cell tumour of bone | Giant cell tumour of bone NOS | Giant cell tumour of bone, NOS | OSTEOCLASTOMA | Osteoclastoma | Osteoclastoma, NOS | [M]Giant cell bone tumor NOS | [M]Giant cell bone tumour NOS | [M]Giant cell tumor of bone NOS | [M]Giant cell tumor of bone NOS (morphologic abnormality) | [M]Giant cell tumour of bone NOS | bone cell giant tumor | bone cell giant tumours | giant cell bone tumor | giant cell tumor bone | giant cell tumor of bone | giant cell; tumor, bone | osteoclastoma | osteoclastomas | tumor; giant cell, bone HPO2016_07_04:A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. [HPO:probinson] | MSH2017_2016_08_12:A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. The tumors range from benign to frankly malignant lesions. The tumor occurs most frequently in an end of a long tubular bone in young adults. (From Dorland, 27th ed; Stedman, 25th ed) | NCI2016_02D:A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint. HPO2016_07_04:HP:0011847|MSH2017_2016_08_12:D018212|SNOMEDCT_US_2016_09_01:189891002|SNOMEDCT_US_2016_09_01:57500000|SNOMEDCT_US_2016_09_01:697970009 C4225370 Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency CMS3C | MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY OMIM2016_04_17:616323 C0030482 Paraepithymia Disorder, Paraphilic | Disorders, Paraphilic | Paraphilia | Paraphilia (disorder) | Paraphilia NOS | Paraphilia, NOS | Paraphilias | Paraphilic Disorder | Paraphilic Disorders | Paraphilic Disorders [Disease/Finding] | aberrations sexual | disorders paraphilia | paraepithymia | paraphilia | paraphilia (diagnosis) | paraphilias | parasexuality | sexual deviation | sexual deviations | sexual perversion MSH2017_2016_08_12:Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V) | PSY2004:Sexual urges, fantasies, or behaviors generally involving themes of suffering, humiliation, sexual activity with non-consenting partners, or an orientation toward non-human objects for sexual arousal. ICD10CM_2017:F65|MSH2017_2016_08_12:D010262|SNOMEDCT_US_2016_09_01:231533007|SNOMEDCT_US_2016_09_01:50299009 C1840382 Ureteral anomalies Abnormality of the ureter | Abnormality of the ureters | Ureteral anomalies HPO2016_07_04:An abnormality of the ureter. [HPO:probinson] HPO2016_07_04:HP:0000069|OMIM2016_04_17:MTHU017763 C4225354 Mental retardation, autosomal dominant 35 MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 | MRD35 OMIM2016_04_17:601646|OMIM2016_04_17:616355 C0334583 Pilocytic astrocytoma ASTROCYTOMA, PILOCYTIC, BENIGN | Astrocytoma, Benign | Astrocytoma, Pilocytic | Astrocytomas, Pilocytic | Grade I Astrocytic Neoplasm | Grade I Astrocytic Tumor | Grade I Astrocytoma | Pilocytic Astrocytoma | Pilocytic Astrocytomas | Pilocytic astrocytoma | Pilocytic astrocytoma (morphologic abnormality) | Pilocytic astrocytoma -RETIRED- | Pilocytic astrocytoma [dup] (morphologic abnormality) | Piloid astrocytoma | Piloid astrocytoma (morphologic abnormality) | astrocytoma pilocytic | pilocytic astrocytoma | pilocytic astrocytomas NCI2016_02D:A WHO grade I, relatively circumscribed, slowly growing, often cystic astrocytoma occurring in children and young adults. Histologically it is characterized by a biphasic pattern with compacted bipolar cells associated with Rosenthal fibers and multipolar cells associated with microcysts and eosinophilic bodies/hyaline droplets. (WHO) | NCI2016_CDISC_1602D:A benign neoplasm of the brain or spinal cord arising from astrocytes associated with single or multiple cysts. MSH2017_2016_08_12:D001254|OMIM2016_04_17:MTHU016766|SNOMEDCT_US_2016_09_01:128854008|SNOMEDCT_US_2016_09_01:189915006|SNOMEDCT_US_2016_09_01:253064000|SNOMEDCT_US_2016_09_01:67859002 C0398349 Distal intestinal obstruction syndrome DIOS - Distal intestinal obstruction syndrome | Distal intestinal obstruction syndrome | Distal intestinal obstruction syndrome (disorder) | MIE - Meconium ileus equivalent | Meconium ileus equivalent | Meconium ileus equivalent syndrome HPO2016_07_04:HP:0004401|ICD10CM_2017:E84.19|OMIM2016_04_17:MTHU037358|SNOMEDCT_US_2016_09_01:233662009 C0333689 Tetrasomy Tetrasomies | Tetrasomy | Tetrasomy (morphologic abnormality) | Tetrasomy [Disease/Finding] | tetrasomy MSH2017_2016_08_12:The possession of four chromosomes of any one type in an otherwise diploid cell. MSH2017_2016_08_12:D058670|SNOMEDCT_US_2016_09_01:29996004 C3281191 Epileptic encephalopathy, early infantile, 13 EIEE13 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 OMIM2016_04_17:600702|OMIM2016_04_17:614558 C1291620 Deficiency of bisphosphoglycerate mutase BISPHOSPHOGLYCERATE MUTASE DEFICIENCY | BISPHOSPHOGLYCEROMUTASE DEFICIENCY | BPGM DEFICIENCY | DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE | DPGM DEFICIENCY | Deficiency of bisphosphoglycerate mutase | Deficiency of bisphosphoglycerate mutase (disorder) | Deficiency of bisphosphoglycerate synthase | Deficiency of diphosphoglycerate mutase | Deficiency of glycerate phosphomutase OMIM2016_04_17:222800|OMIM2016_04_17:613896|SNOMEDCT_US_2016_09_01:124678007 C0035358 Retroperitoneal neoplasm Neoplasm of retroperitoneum | Neoplasm of retroperitoneum (disorder) | Neoplasm of the retroperitoneum | Neoplasm of the retroperitoneum (disorder) | Neoplasm of the retroperitoneum [dup] (disorder) | Neoplasm, Retroperitoneal | Neoplasms, Retroperitoneal | RETROPERITONEAL NEOPLASM | Retroperitoneal Neoplasm | Retroperitoneal Neoplasms | Retroperitoneal Neoplasms [Disease/Finding] | Retroperitoneal neoplasm | Tumor of retroperitoneum | Tumor of retroperitoneum (disorder) | Tumour of retroperitoneum | neoplasm of retroperitoneum | neoplasm of retroperitoneum (diagnosis) | retroperitoneal neoplasm MSH2017_2016_08_12:New abnormal growth of tissue in the RETROPERITONEAL SPACE. | NCI2016_02D:A benign or malignant neoplasm that affects the retroperitoneum. MSH2017_2016_08_12:D012186|SNOMEDCT_US_2016_09_01:126872008|SNOMEDCT_US_2016_09_01:254617008|SNOMEDCT_US_2016_09_01:359767009|SNOMEDCT_US_2016_09_01:359770008 C1837407 Ankle contracture Ankle contracture | Ankle contractures | Contractures of the ankles | contracture of ankle | contracture of ankle (diagnosis) HPO2016_07_04:A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle. [HPO:probinson] HPO2016_07_04:HP:0006466|OMIM2016_04_17:MTHU001752|OMIM2016_04_17:MTHU009646|OMIM2016_04_17:MTHU016984 C3808397 Cortical dysplasia, complex, with other brain malformations 1 CDCBM1 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 OMIM2016_04_17:602661|OMIM2016_04_17:614039 C1334670 Mediastinal mixed embryonal carcinoma and teratoma Mediastinal Mixed Embryonal Carcinoma and Teratoma | Mediastinal Teratocarcinoma | Mixed Embryonal Carcinoma and Teratoma of Mediastinum | Mixed Embryonal Carcinoma and Teratoma of the Mediastinum | Teratocarcinoma of Mediastinum | Teratocarcinoma of the Mediastinum | teratocarcinoma of mediastinum | teratocarcinoma of mediastinum (diagnosis) NCI2016_02D:An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum and contains teratoma and embryonal carcinoma components. C1837518 Spinocerebellar ataxia 25 SCA25 | SPINOCEREBELLAR ATAXIA 25 | Spinocerebellar ataxia 25 | Spinocerebellar ataxia type 25 MSH2017_2016_08_12:C537202|OMIM2016_04_17:608703 C0158450 Aseptic necrosis of medial femoral condyle Aseptic necrosis of medial femoral condyle | Aseptic necrosis of medial femoral condyle (disorder) | aseptic necrosis of medial femoral condyle | aseptic necrosis of medial femoral condyle (diagnosis) ICD9CM_2014:733.43|SNOMEDCT_US_2016_09_01:17926002 C0730290 Cone dystrophy Cone dystrophy | Cone dystrophy (diagnosis) | Cone dystrophy (disorder) | cone dystrophy | dystrophy cone HPO2016_07_04:HP:0000548|SNOMEDCT_US_2016_09_01:312917007 C0521770 Asteroid hyalosis ASTEROID HYALOSIS | Asteroid hyalitis | Asteroid hyalitis (disorder) | Asteroid hyalosis | Asteroid hyalosis (disorder) | Asteroid hyalosis [Ambiguous] | Benson's disease | Hyalosis asteroid | asteroid hyalitis | asteroid hyalitis (diagnosis) | asteroid hyalosis | asteroid hyalosis (physical finding) | asteroid hyalosis was observed | hyalitis; asteroid HPO2016_07_04:The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits. [] HPO2016_07_04:HP:0030672|OMIM2016_04_17:MTHU036734|SNOMEDCT_US_2016_09_01:194150002|SNOMEDCT_US_2016_09_01:389993001|SNOMEDCT_US_2016_09_01:71594009|SNOMEDCT_US_2016_09_01:95800001 C0748280 Renal cyst chronic RENAL CYST CHRONIC C1292777 Aggressive natural killer-cell leukemia Aggressive NK cell leukaemia | Aggressive NK cell leukemia | Aggressive NK-Cell Leukemia | Aggressive NK-Cell Leukemia/Lymphoma | Aggressive NK-cell leukaemia | Aggressive NK-cell leukemia | Aggressive NK-cell leukemia (morphologic abnormality) | Aggressive natural killer-cell leukaemia | Aggressive natural killer-cell leukemia | Aggressive natural killer-cell leukemia (morphologic abnormality) | NK Cell Leukemia | NK-Cell Leukemia | NK-cell leukaemia | NK-cell leukemia | Natural Killer Cell Leukemia | Natural killer-cell leukaemia | Natural killer-cell leukemia | aggressive NK-cell leukemia | aggressive NK-cell leukemia (diagnosis) | leukemia aggressive NK-cell NCI2016_02D:A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen. ICD10CM_2017:C94.8|SNOMEDCT_US_2016_09_01:128833001 C1855578 Muscle cramps with exertion Exercise-induced muscle cramping | Exercise-induced muscle cramps | Muscle cramps following exercise | Muscle cramps on exercise | Muscle cramps on exertion | Muscle cramps with exercise | Muscle cramps with exertion HPO2016_07_04:Sudden and involuntary contractions of one or more muscles brought on by physical exertion. [HPO:probinson] HPO2016_07_04:HP:0003710|OMIM2016_04_17:MTHU004169|OMIM2016_04_17:MTHU011944|OMIM2016_04_17:MTHU012622 C4021097 Reduced prothrombin activity Reduced factor II activity | Reduced prothrombin activity HPO2016_07_04:Decreased activity of coagulation factor II, which is also known as prothrombin. [HPO:probinson] HPO2016_07_04:HP:0012201 C0151311 Cranial nerve palsies CRANIAL NERVE PALSY | CRANIAL NERVE PARALYSIS | Cranial Nerve Palsies | Cranial Nerve Palsy | Cranial Nerve Paralysis | Cranial nerve palsies | Cranial nerve palsy | Cranial nerve paralysis | Cranial nerve paresis | Palsies, Cranial Nerve | Palsy, Cranial Nerve | Paralysis of cranial nerve NOS | Paresis cranial nerve | Paresis cranial nerve NOS | cranial nerve palsies | cranial nerve palsy | cranial nerves palsy NCI2016_02D:Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. HPO2016_07_04:HP:0006824|MSH2017_2016_08_12:D003389|OMIM2016_04_17:MTHU005584|OMIM2016_04_17:MTHU009624|SNOMEDCT_US_2016_09_01:73013002 C0016659 Close fracture CLOSED FRACTURES | Closed #bones unspecified | Closed Fracture | Closed Fractures | Closed fracture | Closed fracture of bone | Closed fracture of bone (disorder) | Closed fracture of bones, unspecified | Closed fracture of bones, unspecified (disorder) | Fracture of unspecified bone, closed | Fracture, Closed | Fracture, closed | Fracture, closed (morphologic abnormality) | Fracture, closed, NOS | Fracture-closed | Fractures, Closed | Fractures, Closed [Disease/Finding] | close fracture | closed bone fracture | closed bone fracture (diagnosis) | closed fracture | closed fractures MSH2017_2016_08_12:Fractures in which the break in bone is not accompanied by an external wound. | NCI2016_02D:A traumatic break to the bone in which the continuity of the bone has not broken through the skin. | NCI2016_NICHD_1602D:A traumatic break to the bone in which the continuity of the bone has not broken through the skin. ICD9CM_2014:829.0|MSH2017_2016_08_12:D005596|SNOMEDCT_US_2016_09_01:208740003|SNOMEDCT_US_2016_09_01:20946005|SNOMEDCT_US_2016_09_01:423125000 C4280568 Hardened artery wall Hardened artery wall HPO2016_07_04:HP:0002634 C0034219 Alveolar pyorrhea Alveolar pyorrhea | Alveolar pyorrhea (disorder) | Alveolar pyorrhoea | Chronic suppurative pericementitis | Fauchard's disease | Marginal periodontitis | Marginal periodontitis (disorder) | Marginal periodontitis (disorder) [Ambiguous] | Periodontitis simplex | Pyorrhea | Pyorrhea Alveolaris | Pyorrhea alveolaris | Pyorrhoea | Pyorrhoea alveolaris | Riggs' disease | Simple periodontitis | Simplex periodontitis | alveolar periostitis | alveolar pyorrhea | disease riggs | pyorrhea | pyorrhea alveolaris | pyorrhea alveolaris (diagnosis) | pyorrhoea | pyorrhoea alveolaris | riggs' disease ICD10CM_2017:K05.3|MSH2017_2016_08_12:D010510|SNOMEDCT_US_2016_09_01:12033006|SNOMEDCT_US_2016_09_01:196368005|SNOMEDCT_US_2016_09_01:252283005 C3810350 Bone marrow failure syndrome 2 BMFS2 | BONE MARROW FAILURE SYNDROME 2 OMIM2016_04_17:615667|OMIM2016_04_17:615715 C1258104 Diffuse scleroderma Diffuse Cutaneous Systemic Sclerosis | Diffuse Scleroderma | Diffuse Systemic Scleroses | Diffuse Systemic Sclerosis | Diffuse cutaneous scleroderma | Diffuse cutaneous systemic sclerosis | Diffuse scleroderma | Diffuse systemic sclerosis | PSS - Progressive systemic sclerosis | Progressive Scleroderma | Progressive Systemic Sclerosis | Progressive systemic sclerosis | Progressive systemic sclerosis (disorder) | SCLERODERMA, DIFFUSE | Scleroderma, Diffuse | Scleroderma, Diffuse [Disease/Finding] | Scleroderma, Progressive | Scleroderma, Sudden Onset | Scleroderma;diffuse | Sclerodermas, Sudden Onset | Scleroses, Diffuse Systemic | Sclerosis, Diffuse Systemic | Sclerosis, Progressive Systemic | Sudden Onset Scleroderma | Sudden Onset Sclerodermas | Systemic Scleroses, Diffuse | Systemic Sclerosis, Diffuse | Systemic Sclerosis, Progressive | Systemic sclerosis, diffuse | Systemic sclerosis, diffuse (disorder) | dSSc | dcSSc | diffuse scleroderma | diffuse sclerosis systemic | diffuse systemic sclerosis | progressive scleroderma | progressive systemic sclerosis | progressive systemic sclerosis (diagnosis) MSH2017_2016_08_12:A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability. | NCI2016_02D:A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. | NCI2016_NICHD_1602D:A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. MSH2017_2016_08_12:D045743|SNOMEDCT_US_2016_09_01:128460000|SNOMEDCT_US_2016_09_01:444133002 C1261504 Congenital absence of both testes Absence of testes | Anorchia | Anorchidism | Anorchism | Bilateral congenital aplasia of testicles | Congenital absence of both testes | Congenital absence of both testes (disorder) | Congenital absent testes | Congenital absent testes (disorder) | Congenital anorchia syndrome | Empty scrotum | Male agonadism | Testicular agenesis, bilateral | anorchia | anorchidism | anorchism | anorchism (diagnosis) HPO2016_07_04:An abnormality of XY sexual development characterized by the absence of both testes at birth. [] {comment="HPO:probinson"} HPO2016_07_04:HP:0030869|MSH2017_2016_08_12:C537770|SNOMEDCT_US_2016_09_01:237805006|SNOMEDCT_US_2016_09_01:371015003|SNOMEDCT_US_2016_09_01:7570002 C1527320 Vertigo, aural Auditory Vertigo | Auditory Vertigos | Aural Vertigo | Aural vertigo | Otogenic Vertigo | Otogenic Vertigos | Otogenic vertigo | Otogenic vertigo (disorder) | Vertigo, Auditory | Vertigo, Aural | Vertigo, Otogenic | Vertigo;aural | Vertigo;otogenic | Vertigos, Auditory | Vertigos, Otogenic | auditory; vertigo | aural vertigo | aural vertigo (diagnosis) | aural; vertigo | otogenic vertigo | otogenic vertigo (diagnosis) | otogenic; vertigo | spinning dizziness caused by noise | spinning dizziness caused by noise (symptom) | vertigo; auditory | vertigo; aural | vertigo; otogenic ICD10CM_2017:H81.31|ICD10CM_2017:H81.39|MSH2017_2016_08_12:D008575|SNOMEDCT_US_2016_09_01:13445001|SNOMEDCT_US_2016_09_01:194358003 C3494976 Migrating partial seizures in infancy MMPSI | MPSI | Malignant Migrating Partial Seizures in Infancy | Migrating Partial Seizures in Infancy | Migrating partial seizures in infancy | Migrating partial seizures in infancy (disorder) NCI2016_02D:A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay. SNOMEDCT_US_2016_09_01:432001000124109 C2909036 Twin twin transfusion Cross Transfusion, Intrauterine | Cross-Transfusion, Intrauterine | Cross-Transfusions, Intrauterine | FFTS - Fetofetal transfusion syndrome | Fetal Transfusion Syndrome | Fetal Transfusion Syndromes | Fetal blood loss from fetal hemorrhage into co-twin | Fetal haemorrhage into co-twin | Fetal hemorrhage into co-twin | Fetal twin to twin transfusion | Fetofetal Transfusion | Fetofetal Transfusion Syndrome | Fetofetal Transfusion Syndromes | Fetofetal Transfusion [Disease/Finding] | Fetofetal Transfusions | Fetofetal transfusion | Fetofetal transfusion syndrome | Fetus-to-fetus placental transfusion syndrome | Fetus-to-fetus placental transfusion syndrome, unspecified trimester | Intrauterine Cross Transfusion | Intrauterine Cross-Transfusion | Intrauterine Cross-Transfusions | Placental Transfusion Syndrome | Stuck Twin Syndrome | Syndrome, Fetal Transfusion | Syndrome, Fetofetal Transfusion | Syndrome, Twin Transfusion | Syndrome, Twin-to-Twin Transfusion | Syndromes, Fetal Transfusion | Syndromes, Fetofetal Transfusion | Syndromes, Twin Transfusion | Syndromes, Twin-to-Twin Transfusion | TTTS | TTTS - Twin to twin transfusion syndrome | TWIN TWIN TRANSFUSION | Transfusion Syndrome, Fetal | Transfusion Syndrome, Fetofetal | Transfusion Syndrome, Twin | Transfusion Syndrome, Twin-to-Twin | Transfusion Syndromes, Fetal | Transfusion Syndromes, Fetofetal | Transfusion Syndromes, Twin | Transfusion Syndromes, Twin-to-Twin | Transfusion, Fetofetal | Transfusion, Twin | Transfusions, Fetofetal | Transfusions, Twin | Twin Transfusion | Twin Transfusion Syndrome | Twin Transfusion Syndromes | Twin Transfusions | Twin Twin Transfusion Syndrome | Twin to Twin Transfusion Syndrome | Twin to twin transfusion | Twin to twin transfusion (disorder) | Twin-Twin Transfusion Syndrome | Twin-to-Twin Transfusion Syndrome | Twin-to-Twin Transfusion Syndromes | Twin-to-twin blood transfer | Twin-to-twin blood transfer (disorder) | Twin-twin transfusion syndrome | fetal conditions hematologic twin to twin transfusion | fetal twin-twin transfusion | fetal twin-twin transfusion (diagnosis) | fetofetal transfusion | fetus-to-fetus placental transfusion syndrome (diagnosis) | syndrome transfusion twin twin | syndrome transfusion twin-twin | twin to twin transfusion | twin to twin transfusion (diagnosis) | twin transfusion | twin transfusion syndrome | twin transfusions | twin twin transfusion | twin twin transfusion syndrome | twin-twin transfusion syndrome MSH2017_2016_08_12:Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8) | NCI2016_02D:A condition which occurs in monozygotic twins in which one of the fetuses supplies the majority of the cardiac output to its co-twin through its umbilical artery. The recipient twin has only rudimentary organs and structure and is not viable. | NCI2016_NICHD_1602D:A disorder that results from monozygotic twins unequally sharing blood flow through their common placenta. It is characterized by placental vascular communications, and one twin that is Designated as the donor and the other as the recipient. There is polyhydramnios in the recipient twin and oligohydramnios in the donor twin. ICD10CM_2017:O43.02|ICD10CM_2017:O43.029|MSH2017_2016_08_12:D005330|SNOMEDCT_US_2016_09_01:13404009|SNOMEDCT_US_2016_09_01:237299001 C2936694 Swyer syndrome 46,XY Complete Gonadal Dysgenesis | Complete Gonadal Dysgenesis, 46, XY | Pure Gonadal Dysgenesis 46,XY | Pure Gonadal Dysgenesis, 46, XY | Pure gonadal dysgenesis 46,XY | Pure gonadal dysgenesis 46,XY (disorder) | Swyer Syndrome | Swyer syndrome | Syndrome, Swyer | XY Pure Gonadal Dysgenesis MSH2017_2016_08_12:D006061|SNOMEDCT_US_2016_09_01:95218005 C0029051 Oophoritis Inflammation of ovary | OOPHORITIS | OVARITIS | OVARY, INFLAMMATION | Oophoritides | Oophoritis | Oophoritis (disorder) | Oophoritis [Disease/Finding] | Oophoritis unspecified | Oophoritis unspecified (disorder) | Oophoritis, NOS | Oophoritis, unspecified | Ovary inflammation | inflammation ovaries | inflammation ovary | inflammation; ovary | oophoritis | oophoritis (diagnosis) | ovaritis | ovary inflammation | ovary; inflammation MSH2017_2016_08_12:Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix. ICD10CM_2017:N70.92|MSH2017_2016_08_12:D009869|SNOMEDCT_US_2016_09_01:155968004|SNOMEDCT_US_2016_09_01:198148002|SNOMEDCT_US_2016_09_01:266648001|SNOMEDCT_US_2016_09_01:76047005 C1866500 Low-to-normal blood pressure Low-to-normal blood pressure HPO2016_07_04:HP:0002632|OMIM2016_04_17:MTHU005839 C0279565 Invasive lobular breast carcinoma Classic Invasive Lobular Carcinoma | Infiltrating Lobular Adenocarcinoma | Infiltrating Lobular Breast Carcinoma | Infiltrating Lobular Carcinoma of Breast | Infiltrating Lobular Carcinoma of the Breast | Invasive Lobular Adenocarcinoma | Invasive Lobular Breast Carcinoma | Invasive Lobular Carcinoma | Invasive Lobular Carcinoma of Breast | Invasive Lobular Carcinoma of the Breast | Invasive Lobular Carcinoma, Classic Type | Invasive lobular breast carcinoma | Lobular breast carcinoma invasive | carcinoma; infiltrating lobular, unspecified site | infiltrating; lobular carcinoma, unspecified site | invasive lobular breast carcinoma | lobular invasive breast carcinoma NCI2016_02D:An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures. C1519099 Chromosome 1 ring Chromosome 1 ring | Ring Chromosome 1 | Ring chromosome 1 MSH2017_2016_08_12:C535361 C0917817 Neurofibromatosis 3 Mixed central and peripheral neurofibramatosis | Mixed central and peripheral neurofibromatosis | NF 3 | Neurofibramatosis 3 | Neurofibramatosis 3 (disorder) | Neurofibromatosis 3 | Neurofibromatosis 3s | Neurofibromatosis Type 3 | Neurofibromatosis Type 3s | Neurofibromatosis type 3 | Neurofibromatosis type 3 (disorder) | Neurofibromatosis, type 3 | Type 3, Neurofibromatosis MSH2017_2016_08_12:D017253|SNOMEDCT_US_2016_09_01:254240003|SNOMEDCT_US_2016_09_01:700059003 C0751675 Cerebral primitive neuroectodermal tumor Cerebral Hemisphere PNET | Cerebral Hemisphere Primitive Neuroectodermal Neoplasm | Cerebral Hemisphere Primitive Neuroectodermal Tumor | Cerebral PNET | Cerebral Primitive Neuroectodermal Neoplasm | Cerebral Primitive Neuroectodermal Tumor | PNET of Cerebral Hemispheres | PNET of Cerebrum | PNET of the Cerebral Hemispheres | PNET of the Cerebrum | Primitive Neuroectodermal Neoplasm of Cerebral Hemispheres | Primitive Neuroectodermal Neoplasm of Cerebrum | Primitive Neuroectodermal Neoplasm of the Cerebral Hemispheres | Primitive Neuroectodermal Neoplasm of the Cerebrum | Primitive Neuroectodermal Tumor of Cerebral Hemispheres | Primitive Neuroectodermal Tumor of Cerebrum | Primitive Neuroectodermal Tumor of the Cerebral Hemispheres | Primitive Neuroectodermal Tumor of the Cerebrum NCI2016_02D:A central nervous system primitive neuroectodermal tumor arising from the cerebral hemispheres. MSH2017_2016_08_12:D018242 C1321315 Paraneoplastic retinopathy Paraneoplastic retinopathy | Paraneoplastic retinopathy (disorder) SNOMEDCT_US_2016_09_01:404663008 C1856285 Increased liver glycogen content Increased hepatic glycogen content | Increased liver glycogen content HPO2016_07_04:An increase in the amount of glycogen stored in hepatocytes compared to normal. [HPO:probinson] HPO2016_07_04:HP:0006568|OMIM2016_04_17:MTHU012629 C1443972 Cyst of prostate Cyst of prostate | Prostatic cyst | Prostatic cyst (disorder) | cyst of prostate | cyst; prostate | cysts prostate | prostate cyst | prostate cyst (diagnosis) | prostate; cyst ICD10CM_2017:N42.83|ICD9CM_2014:600.3|SNOMEDCT_US_2016_09_01:409658007 C0403567 Disorders associated with peritoneal dialysis Disorders associated with peritoneal dialysis | Disorders associated with peritoneal dialysis (disorder) | PD - Peritoneal dialysis disorders SNOMEDCT_US_2016_09_01:236553007 C1854686 Uncontrolled eye movements Uncontrolled eye movements HPO2016_07_04:HP:0007738|OMIM2016_04_17:MTHU011098 C1318500 Non-toxic nodular goiter GOITER, NODULAR, NONTOXIC | Nodular goiter (nontoxic) NOS | Non-Toxic Nodular Goiter | Non-toxic nodular goiter | Non-toxic nodular goiter (disorder) | Non-toxic nodular goiter NOS | Non-toxic nodular goiter NOS (disorder) | Non-toxic nodular goiter, NOS | Non-toxic nodular goitre | Non-toxic nodular goitre NOS | Non-toxic nodular goitre, NOS | Nontoxic nodular goiter | Nontoxic nodular goiter NOS | Nontoxic nodular goiter, unspecified | Nontoxic nodular goitre | Nontoxic nodular goitre NOS | Nontoxic nodular goitre, unspecified | Nontoxic nodular thyroid goiter | Nontoxic nodular thyroid goitre | Unspecified nontoxic nodular goiter | Unspecified nontoxic nodular goitre | nodular goiter | nodular goitre | nodular non toxic goiter | nodular nontoxic goiter | non toxic nodular goiter | non-toxic nodular goiter | nontoxic nodular goiter | nontoxic nodular goiter (diagnosis) NCI2016_02D:Sporadic nodular enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy. ICD10CM_2017:E04.9|ICD9CM_2014:241|ICD9CM_2014:241.9|SNOMEDCT_US_2016_09_01:190236006|SNOMEDCT_US_2016_09_01:190238007|SNOMEDCT_US_2016_09_01:267371002|SNOMEDCT_US_2016_09_01:60968001 C0409979 Neonatal systemic lupus erythematosus Neonatal Lupus Erythematosus | Neonatal Systemic lupus erythematosus | Neonatal lupus | Neonatal lupus erythematosus | Neonatal lupus erythematosus (disorder) | Neonatal lupus syndrome | lupus erythematosus neonatal | neonatal lupus | neonatal lupus erythematosus NCI2016_02D:A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. | NCI2016_NICHD_1602D:A disorder caused by placental transfer of maternal autoantibodies, usually anti-Ro (SSA) and/or anti-La (SSB), leading to fetal tissue damage associated with congenital heart block, and reversible manifestations such as skin rash, thrombocytopenia, and hepatitis. MSH2017_2016_08_12:C536397|SNOMEDCT_US_2016_09_01:95609003 C1333645 Frontal sinus schneiderian papilloma Frontal Sinus Schneiderian Papilloma | Schneiderian Papilloma of Frontal Sinus | Schneiderian Papilloma of the Frontal Sinus NCI2016_02D:A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma. C0406236 Erythrodermic atopic dermatitis Erythrodermic atopic dermatitis | Erythrodermic atopic dermatitis (disorder) | Erythrodermic atopic eczema SNOMEDCT_US_2016_09_01:238544008 C0029591 Other disorder of lipoid metabolism nos Other disorder of lipoid metabolism NOS | Other disorder of lipoid metabolism NOS (disorder) | Other disorders lipoid metabol | Other disorders of lipoid metabolism | Other disorders of lipoid metabolism (disorder) | Other lipoid metabol.dis.NOS ICD9CM_2014:272.8|SNOMEDCT_US_2016_09_01:154744007|SNOMEDCT_US_2016_09_01:190798009|SNOMEDCT_US_2016_09_01:190805007 C1865276 Global glomerulosclerosis Global glomerulosclerosis HPO2016_07_04:Complete and diffuse scarring of glomerulus. [Eurenomics:ewuehl] HPO2016_07_04:HP:0004737|OMIM2016_04_17:MTHU005370 C3809655 Charcot-marie-tooth disease, axonal, type 2r CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R | CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R | CMT2R OMIM2016_04_17:614141|OMIM2016_04_17:615490 C0279654 Adenocarcinoma of the rectum, signet ring Rectal Signet Ring Cell Adenocarcinoma | Signet Ring Adenocarcinoma of Rectum | Signet Ring Adenocarcinoma of the Rectum | Signet Ring Cell Adenocarcinoma of Rectum | Signet Ring Cell Adenocarcinoma of the Rectum | adenocarcinoma of the rectum, signet ring | rectal, signet ring adenocarcinoma of the | rectum, signet ring adenocarcinoma of the | signet ring adenocarcinoma of the rectum NCI2016_02D:An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population. C0431890 Hypoplasia of thumb Congenital Malformation of Thumb | Hypoplasia of thumb | Hypoplasia of thumb (disorder) | Hypoplastic thumb | Hypoplastic thumb(s) | Hypoplastic thumbs | Hypoplastic/small thumb | Short thumb | Short thumbs | Small thumbs | Thumb Hypoplasia | Thumb brachydactyly | Thumb hypoplasia | Thumb hypoplastic | Undergrowth of the thumb | Undergrowth of the thumb (disorder) | hypoplasia thumbs | hypoplastic thumb | hypoplastic thumbs | thumb brachydactyly | thumb hypoplasia HPO2016_07_04:Hypoplasia (congenital reduction in size) of the thumb. [HPO:probinson] | NCI2016_02D:A congenital abnormality characterized by hypoplasia or absence of the thumb. It may be associated with other congenital abnormalities. HPO2016_07_04:HP:0009778|MSH2017_2016_08_12:C536903|OMIM2016_04_17:MTHU003486|OMIM2016_04_17:MTHU009427|OMIM2016_04_17:MTHU009571|OMIM2016_04_17:MTHU009585|OMIM2016_04_17:MTHU010007|OMIM2016_04_17:MTHU015439|OMIM2016_04_17:MTHU018174|OMIM2016_04_17:MTHU023263|SNOMEDCT_US_2016_09_01:253935007|SNOMEDCT_US_2016_09_01:253936008 C4280536 Accelerated wrist bone maturation Accelerated wrist bone maturation HPO2016_07_04:HP:0004233 C0264675 Angina pectoris class i Angina, class I | Angina, class I (disorder) | angina pectoris class I | class I angina | class I angina pectoris | class I angina pectoris (diagnosis) SNOMEDCT_US_2016_09_01:61490001 C1848453 Poor motor coordination Poor motor coordination HPO2016_07_04:HP:0002275|OMIM2016_04_17:MTHU008706 C0406310 Papular, squamous and granulomatous eruptions of skin Papular, squamous and granulomatous eruptions of skin | Papular, squamous and granulomatous eruptions of skin (disorder) | Papular, squamous and granulomatous eruptions of skin (navigational concept) SNOMEDCT_US_2016_09_01:238599004 C0154059 Carcinoma in situ of esophagus Ca-in-situ esophagus NOS | Ca-in-situ oesophagus NOS | Cancer in situ of esophagus | Cancer in situ of oesophagus | Carcinoma in situ of esophagus | Carcinoma in situ of esophagus (disorder) | Carcinoma in situ of esophagus NOS | Carcinoma in situ of esophagus NOS (disorder) | Carcinoma in situ of esophagus, NOS | Carcinoma in situ of oesophagus | Carcinoma in situ of oesophagus NOS | Carcinoma in situ of oesophagus, NOS | Esophageal Carcinoma in situ | Esophageal Carcinoma in situ AJCC v7 | Esophageal carcinoma NOS stage 0 | Esophageal carcinoma in situ | Esophageal carcinoma site unspecified stage 0 | Esophageal carcinoma stage 0 | Oesophageal carcinoma NOS stage 0 | Oesophageal carcinoma in situ | Oesophageal carcinoma site unspecified stage 0 | Oesophageal carcinoma stage 0 | Severe Esophageal Dysplasia | Severe Esophageal Dysplasia AJCC v7 | Severe esophageal dysplasia | Severe esophageal dysplasia (disorder) | Severe oesophageal dysplasia | Stage 0 Esophageal Cancer | Stage 0 Esophageal Cancer AJCC v7 | carcinoma in situ of esophagus | carcinoma in situ of esophagus (diagnosis) | esophageal cancer, stage 0 | esophagus cancer, stage 0 | stage 0 esophageal cancer | stage 0 esophageal carcinoma in situ NCI2016_02D:Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.) | NCI2016_NCI-GLOSS_1602D:Abnormal cells are found in the innermost layer of tissue lining the esophagus. These abnormal cells may become cancer and spread into nearby normal tissue. ICD10CM_2017:D00.1|ICD9CM_2014:230.1|SNOMEDCT_US_2016_09_01:189217007|SNOMEDCT_US_2016_09_01:308860001|SNOMEDCT_US_2016_09_01:92585006 C0153415 Malignant neoplasm of lower third of esophagus Ca lower third esophagus | Ca lower third esophagus (disorder) | Ca lower third oesophagus | Ca lower third oesophagus (disorder) | Mal tum lower third esophagus | Mal tum lower third oesophagus | Malig neop low 1/3 esophagus | Malig neop low 1/3 oesophagus | Malignant Lower Third of Esophagus Neoplasm | Malignant Lower Third of Esophagus Tumor | Malignant Lower Third of the Esophagus Neoplasm | Malignant Lower Third of the Esophagus Tumor | Malignant Neoplasm of Distal Third of Esophagus | Malignant Neoplasm of Lower Third of Esophagus | Malignant Neoplasm of the Distal Third of the Esophagus | Malignant Neoplasm of the Lower Third of the Esophagus | Malignant Tumor of Distal Third of Esophagus | Malignant Tumor of Lower Third of Esophagus | Malignant Tumor of the Distal Third of the Esophagus | Malignant Tumor of the Lower Third of the Esophagus | Malignant neoplasm of distal third of esophagus | Malignant neoplasm of lower third of esophagus | Malignant neoplasm of lower third of oesophagus | Malignant tumor of lower third of esophagus | Malignant tumor of lower third of esophagus (disorder) | Malignant tumour of lower third of oesophagus | malignant neoplasm of lower third of esophagus | malignant neoplasm of lower third of esophagus (diagnosis) | malignant tumor of lower third of esophagus NCI2016_02D:A primary or metastatic malignant neoplasm involving the lower third segment of the esophagus. ICD10CM_2017:C15.5|ICD9CM_2014:150.5|SNOMEDCT_US_2016_09_01:154444006|SNOMEDCT_US_2016_09_01:187727005|SNOMEDCT_US_2016_09_01:269524002|SNOMEDCT_US_2016_09_01:93877002 C0158113 Contracture of joint of hand Contracture of hand joint | Contracture of joint of hand | Contracture of joint of hand (disorder) | Contracture of joint, hand | Contracture, hand | Contractures involving the hands | Contractures of the hands | Joint contracture of hand | Joint contracture of the hand | contracture of hand | contracture of hand (diagnosis) HPO2016_07_04:Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. [HPO:sdoelken] HPO2016_07_04:HP:0009473|ICD10CM_2017:M24.54|ICD9CM_2014:718.44|OMIM2016_04_17:MTHU006126|SNOMEDCT_US_2016_09_01:156553000|SNOMEDCT_US_2016_09_01:86414002 C2987260 Esophageal net Esophageal NET | Esophageal Neuroendocrine Tumor | Esophageal Well Differentiated Endocrine Tumor | Esophageal Well Differentiated Endocrine Tumor/Carcinoma NCI2016_02D:A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus. C3151752 Nystagmus 6, congenital, x-linked NYS6 | NYSTAGMUS 6, CONGENITAL, X-LINKED | NYSTAGMUS, 6, CONGENITAL, X-LINKED OMIM2016_04_17:300808|OMIM2016_04_17:300814 C3164374 Abnormality of pulmonary valve Abnormality of pulmonary valve | Abnormality of pulmonary valve (disorder) | Abnormality of the pulmonary valve | Anomaly of the pulmonary valve | pulmonary valve abnormality | pulmonary valve abnormality (diagnosis) HPO2016_07_04:An abnormality of the pulmonary valve. [HPO:probinson] HPO2016_07_04:HP:0001641|SNOMEDCT_US_2016_09_01:448643005 C1334617 Malignant neoplasm of pulmonary vein Malignant Neoplasm of Pulmonary Vein | Malignant Neoplasm of the Pulmonary Vein | Malignant Pulmonary Vein Neoplasm | Malignant Tumor of Pulmonary Vein | Malignant Tumor of the Pulmonary Vein C0012628 Discrete subaortic stenosis Discrete Subaortic Stenoses | Discrete Subaortic Stenosis | Discrete Subaortic Stenosis [Disease/Finding] | Stenoses, Discrete Subaortic | Stenosis, Discrete Subaortic | Subaortic Stenoses, Discrete | Subaortic Stenosis, Discrete MSH2017_2016_08_12:A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. MSH2017_2016_08_12:D021922 C0018946 Hematoma, subdural HAEMORRHAGE SUBDURAL | HEMATOMA SUBDURAL | HEMORRHAGE SUBDURAL | Haematoma subdural | Haemorrhage subdural | Haemorrhage;subdural | Hematoma subdural | Hematoma, Subdural | Hematoma, Subdural [Disease/Finding] | Hematomas, Subdural | Hemorrhage subdural | Hemorrhage, Subdural | Hemorrhage;subdural | Hemorrhages, Subdural | SDH - Subdural haematoma | SDH - Subdural hematoma | SUBDURAL HAEMATOMA | SUBDURAL HEMATOMA | SUBDURAL HEMATONIA | SUBDURAL HEMORRHAGE | Subdural Hematoma | Subdural Hematomas | Subdural Hemorrhage | Subdural Hemorrhages | Subdural bleeding | Subdural haematoma | Subdural haematoma (disorder) | Subdural haematoma, NOS | Subdural haemorrhage | Subdural haemorrhage NOS | Subdural haemorrhage NOS (disorder) | Subdural haemorrhage, NOS | Subdural hematoma | Subdural hematoma (disorder) | Subdural hematoma, NOS | Subdural hematonia | Subdural hemorrhage | Subdural hemorrhage (disorder) | Subdural hemorrhage NOS | Subdural hemorrhage NOS (disorder) | Subdural hemorrhage [dup] (disorder) | Subdural hemorrhage, NOS | Subdural intracranial haematoma | Subdural intracranial haemorrhage | Subdural intracranial hematoma | Subdural intracranial hematoma (disorder) | Subdural intracranial hemorrhage | Subdural intracranial hemorrhage (disorder) | hematoma; subdural | hemorrhage; subdural | sdh | subdural bleeding | subdural haematoma | subdural haemorrhage | subdural hematoma | subdural hematoma (SDH) | subdural hematoma (diagnosis) | subdural hematomas | subdural hemorrhage | subdural hemorrhage (diagnosis) | subdural hemorrhages | subdural; hematoma | subdural; hemorrhage HPO2016_07_04:Hemorrhage occurring between the dura mater and the arachnoid mater. [HPO:sdoelken] | MSH2017_2016_08_12:Accumulation of blood in the SUBDURAL SPACE between the DURA MATER and the arachnoidal layer of the MENINGES. This condition primarily occurs over the surface of a CEREBRAL HEMISPHERE, but may develop in the spinal canal (HEMATOMA, SUBDURAL, SPINAL). Subdural hematoma can be classified as the acute or the chronic form, with immediate or delayed symptom onset, respectively. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status. | NCI2016_02D:A collection of blood between the dura mater and the brain. | NCI2016_02D:Bleeding between the dura mater and the brain, usually secondary to a tear of the bridging vein. | NCI2016_FDA_1602D:Cerebral hemorrhage into the subdural space. See also Stroke Syndrome. | NCI2016_NICHD_1602D:A collection of blood into the space between the dura mater and the brain. | SCTSPA_2016_04_30:Colecci贸n de sangre extravascular en el espacio subdural intracraneal | SCTSPA_2016_04_30:Sangrado hacia el espacio subdural intracraneal | SNOMEDCT_US_2016_09_01:A collection of extravascular blood in the intracranial subdural space | SNOMEDCT_US_2016_09_01:Bleeding into the intracranial subdural space HPO2016_07_04:HP:0100309|ICD9CM_2014:432.1|MSH2017_2016_08_12:D006408|SNOMEDCT_US_2016_09_01:155393009|SNOMEDCT_US_2016_09_01:313305008|SNOMEDCT_US_2016_09_01:35486000|SNOMEDCT_US_2016_09_01:415649003|SNOMEDCT_US_2016_09_01:95453001 C3553748 Adams-oliver syndrome 3 ADAMS-OLIVER SYNDROME 3 | AOS3 OMIM2016_04_17:147183|OMIM2016_04_17:614814 C0269062 Chronic cervicitis Chronic Cervicitis | Chronic cervicitis | Chronic cervicitis (diagnosis) | Chronic cervicitis (disorder) | cervicitis chronic | chronic cervicitis NCI2016_02D:Chronic inflammation of the cervix. SNOMEDCT_US_2016_09_01:198210003|SNOMEDCT_US_2016_09_01:56728002 C0032633 Eczema dyshidrotic Cheiropodopompholyx | Cheiropompholyx | DISHYDROSIS | DYSHIDROSIS | DYSHIDROTIC ECZEMA | DYSHYDROSIS | DYSHYDROTIC ECZEMA | Dyshidria | Dyshidrosis | Dyshidrosis (disorder) | Dyshidrosis NOS | Dyshidrosis NOS (disorder) | Dyshidrosis unspecified | Dyshidrosis unspecified (disorder) | Dyshidrotic Eczema | Dyshidrotic Eczemas | Dyshidrotic dermatitis | Dyshidrotic dermatitis, NOS | Dyshidrotic eczema | Dyshydrotic Eczema | Dyshydrotic Eczemas | Dysidria | Dysidrosis | ECZEMA DYSHIDROTIC | Eczema, Dyshidrotic | Eczema, Dyshidrotic [Disease/Finding] | Eczema, Dyshydrotic | Eczema, Vesicular Palmoplantar | Eczema;dyshidrotic | Eczemas, Dyshidrotic | Eczemas, Dyshydrotic | Eczemas, Vesicular Palmoplantar | POMPHOLYX | Palmoplantar Eczema, Vesicular | Palmoplantar Eczemas, Vesicular | Pompholyx | Pompholyx (finding) | Pompholyx eczema | Pompholyx unspecified | Pompholyx unspecified (disorder) | Vesicular Palmoplantar Eczema | Vesicular Palmoplantar Eczemas | Vesicular eczema of hands and feet | Vesicular eczema of hands and/or feet | Vesicular eczema of hands and/or feet (disorder) | Vesicular eruption of palms and soles | cheiropompholyx | dishydrosis | dyshidrosis | dyshidrosis (diagnosis) | dyshidrotic dermatitis | dyshidrotic eczema | dyshidrotic hand eczema | dyshydrosis | dyshydrotic eczema | dyshydrotic; eczema | eczema dyshidrotic | eczema dyshidrotic (diagnosis) | eczema; dyshydrotic | pompholyx | pompholyx eczema | vesicular eczema of hands and/or feet MSH2017_2016_08_12:A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed) | SCTSPA_2016_04_30:Erupci贸n autolimitada de palmas y plantas | SNOMEDCT_US_2016_09_01:Self -limited vesicular eruption of palms and soles | SNOMEDCT_US_2016_09_01:Self-limited vesicular eruption of palms and soles ICD9CM_2014:705.81|MSH2017_2016_08_12:D011146|SNOMEDCT_US_2016_09_01:156416008|SNOMEDCT_US_2016_09_01:156417004|SNOMEDCT_US_2016_09_01:201198005|SNOMEDCT_US_2016_09_01:201199002|SNOMEDCT_US_2016_09_01:201200004|SNOMEDCT_US_2016_09_01:201202007|SNOMEDCT_US_2016_09_01:25560004|SNOMEDCT_US_2016_09_01:267865000|SNOMEDCT_US_2016_09_01:267866004|SNOMEDCT_US_2016_09_01:274946003|SNOMEDCT_US_2016_09_01:402567004 C2718000 Proteostasis deficiencies Deficiencies, Proteostasis | Deficiency, Proteostasis | Dysfunction, Proteostasis | Dysfunctions, Proteostasis | Proteostasis Deficiencies | Proteostasis Deficiencies [Disease/Finding] | Proteostasis Deficiency | Proteostasis Dysfunction | Proteostasis Dysfunctions MSH2017_2016_08_12:Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins. MSH2017_2016_08_12:D057165 C0155003 Blindness transient BLINDNESS TEMPORARY | BLINDNESS TRANSIENT | Blindness temporary | Blindness transient | Blindness, Transient | Blindness;temporary | Temporary vision loss | Transient Blindness | Transient blindness | Transient blindness (disorder) | Transient blindness, NOS | Transient visual loss | Transient visual loss (disorder) | blindness; transient | loss temporary vision | temporary blindness | temporary vision loss | transient blindness | transient visual loss | transient visual loss (diagnosis) | transient; blindness ICD10CM_2017:H53.12|ICD9CM_2014:368.12|MSH2017_2016_08_12:D001766|SNOMEDCT_US_2016_09_01:36994005|SNOMEDCT_US_2016_09_01:83785004 C4023976 Aplasia/hypoplasia of the middle phalanges of the toes Absent/small middle bones of toe | Absent/underdeveloped middle bones of toe | Aplasia/Hypoplasia of the middle phalanges of the toes HPO2016_07_04:HP:0010194 C4280523 Increased ossification of lower jaw Increased ossification of lower jaw | Increased ossification of mandible HPO2016_07_04:HP:0004472 C0853972 Inflammatory carcinoma of breast stage iv Inflammatory Carcinoma of Breast Stage IV | Inflammatory breast cancer stage IV | Inflammatory carcinoma of breast stage IV | Stage IV Inflammatory Breast Cancer | Stage IV Inflammatory Breast Carcinoma NCI2016_02D:An inflammatory carcinoma of the breast that has spread to other anatomic sites. C0481798 Encounter due to family disruption Divorce | Encounter due to family disruption | Estrangement | Family disruption | [V]Divorce | [V]Estrangement | [V]Family disruption | [V]Family disruption (context-dependent category) | [V]Family disruption (situation) | disruption; family | estrangement | family; disruption ICD9CM_2014:V61.0|SNOMEDCT_US_2016_09_01:316375003 C2936812 Congenital hypertrichosis Congenital hypertrichosis | Congenital hypertrichosis (disorder) | HYPERTRICHOSIS CONGENITAL | Hypertrichosis congenital | Hypertrichosis universalis | congenital hypertrichosis | congenital hypertrichosis (diagnosis) | congenital; hypertrichosis | hypertrichosis; congenital ICD10CM_2017:Q84.2|SNOMEDCT_US_2016_09_01:56797000 C0334548 Juxtacortical chondroma Juxtacortical Chondroma | Juxtacortical chondroma | Juxtacortical chondroma (morphologic abnormality) | Periosteal Chondroma | Periosteal chondroma | juxtacortical chondroma | periosteal chondroma NCI2016_02D:A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification. SNOMEDCT_US_2016_09_01:9266000 C0008513 Chorioretinitis CHORIODORETINITIS | CHORIORETINITIS | Choriodoretinitis | Chorioretinal inflammation | Chorioretinal inflammation, unspecified | Chorioretinitides | Chorioretinitis | Chorioretinitis (disorder) | Chorioretinitis NOS | Chorioretinitis [Disease/Finding] | Chorioretinitis, NOS | Chorioretinitis, unspecified | Choroiditis and retinitis | Inflammation of choroid and retina | Retinitis and chorioretinitis | Retinochoroiditis | Retinochoroiditis NOS | Unspecified chorioretinal inflammation | chorioretinitis | chorioretinitis (diagnosis) | chorioretinitis (physical finding) | retinochoroiditis CSP2006:inflammation of the choroid in which the sensory retina becomes edematous and opaque; inflammatory cells and exudate may burst through the sensory retina to cloud the vitreous body. | HPO2016_07_04:An inflammation of the choroid and retina. [ORCID:0000-0001-5208-3432] | MSH2017_2016_08_12:Inflammation of the choroid in which the sensory retina becomes edematous and opaque. The inflammatory cells and exudate may burst through the sensory retina to cloud the vitreous body. | NCI2016_02D:Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision. | NCI2016_NICHD_1602D:A form of posterior uveitis in which the choroid and retina are inflamed. HPO2016_07_04:HP:0012424|ICD10CM_2017:H30|ICD10CM_2017:H30.9|ICD9CM_2014:363.20|MSH2017_2016_08_12:D002825|SNOMEDCT_US_2016_09_01:193432007|SNOMEDCT_US_2016_09_01:270531006|SNOMEDCT_US_2016_09_01:46627006 C1969092 Nephronophthisis 7 NEPHRONOPHTHISIS 7 | NPHP7 | Nephronophthisis 7 MSH2017_2016_08_12:C566930|OMIM2016_04_17:608539|OMIM2016_04_17:611498 C1299919 Enteric coccidiosis Coccidial enteritis | Coccidiosis | Coccidiosis (& [intestinal]) | Coccidiosis (& [intestinal]) (disorder) | Enteric coccidiosis | Enteric coccidiosis (diagnosis) | Enteric coccidiosis (disorder) | Intestinal coccidiosis | Intestinal coccidiosis (disorder) | Intestinal coccidiosis [Ambiguous] | coccidiosis | protozoal disease coccidiosis enteric CSP2006:protozoan infection found in animals and man; caused by several different genera of Coccidia. ICD10CM_2017:A07.3|ICD9CM_2014:007.2|SNOMEDCT_US_2016_09_01:186125004|SNOMEDCT_US_2016_09_01:266076005|SNOMEDCT_US_2016_09_01:360427001|SNOMEDCT_US_2016_09_01:370518000|SNOMEDCT_US_2016_09_01:73034009 C0238394 Female pseudohermaphroditism Female Pseudohermaphroditism | Female Pseudohermaphroditisms | Female pseudohermaphroditism | Female pseudohermaphroditism (disorder) | Female pseudohermaphroditism NOS | Ferms | PSEUDOHERMAPHRODITISM, FEMALE | Pseudohermaphroditism female | Pseudohermaphroditism syndrome, female | Pseudohermaphroditism, Female | Pseudohermaphroditisms, Female | female pseudohermaphroditism | female pseudohermaphroditism (diagnosis) | ferm | pseudohermaphroditism; female HPO2016_07_04:Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. [HPO:curators] HPO2016_07_04:HP:0010458|ICD10CM_2017:Q56.2|MSH2017_2016_08_12:D058489|SNOMEDCT_US_2016_09_01:8800006 C1836155 Myopathy, myofibrillar, zasp-related MFM, Zasp-related | MFM4 | MYOPATHY, MYOFIBRILLAR, 4 | Myopathy, Myofibrillar, Zasp-Related MSH2017_2016_08_12:C563718|OMIM2016_04_17:605906|OMIM2016_04_17:609452 C1517658 Cervical keratinizing squamous cell carcinoma Cervical Keratinizing Squamous Cell Carcinoma NCI2016_02D:A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present. C0751676 Basal cell cancer Basal Cell Cancer | Basal Cell Cancers | Basal cell skin cancer | Cancer, Basal Cell | Cancers, Basal Cell | Cell Cancer, Basal | Cell Cancers, Basal | SKIN CANCER BASAL CELL | basal cancer cell | basal cell cancer | cancer of the skin, basal cell | skin cancer, basal cell MSH2017_2016_08_12:D018295 C1838359 Diffuse palmoplantar keratoderma, bothnian type Diffuse palmoplantar keratoderma, Bothnian type | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE | PPKB | Palmoplantar keratoderma, Bothnian type MSH2017_2016_08_12:C536173|OMIM2016_04_17:600231|OMIM2016_04_17:600442 C1857301 Dermatoosteolysis kirghizian type DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE | Dermatoosteolysis Kirghizian type | Dermatoosteolysis, Kirghizian Type | KIRGHIZIAN DERMATOOSTEOLYSIS | Kirghizian Dermatoosteolysis MSH2017_2016_08_12:C535373|OMIM2016_04_17:221810 C1416865 Lipa gene CESD | CHOLESTEROL ESTER HYDROLASE | LAL | LIPA | LIPA gene | LIPASE A, LYSOSOMAL ACID | LYSOSOMAL ACID LIPASE | Wolman disease | lipase A, lysosomal acid type | lysosomal acid lipase | sterol esterase OMIM2016_04_17:613497 C3662441 Rolandic seizures with status epilepticus Rolandic seizures with status epilepticus | Status epilepticus in benign Rolandic epilepsy | Status epilepticus in benign Rolandic epilepsy (disorder) SNOMEDCT_US_2016_09_01:291311000119108 C4021632 Facial telangiectasia in butterfly midface distribution Butterfly facial telangiectasia | Facial telangiectasia in butterfly midface distribution HPO2016_07_04:Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution. [HPO:curators] HPO2016_07_04:HP:0005598 C3151107 Retinitis pigmentosa 40 (disorder) RETINITIS PIGMENTOSA 40 | RETINITIS PIGMENTOSA 40 (disorder) | RP40 OMIM2016_04_17:180072|OMIM2016_04_17:613801 C0040997 Trigeminal neuralgia Disease, Fothergill | Epileptiform Neuralgia | Epileptiform Neuralgias | FOTHERGILL DISEASE | Fothergill Disease | Fothergill's neuralgia | Fothergill; neuralgia | Fothergill; trigeminal neuralgia | NEURALGIA TRIGEMINAL | NEURALGIA, TRIGEMINAL | Neuralgia trigeminal | Neuralgia, Epileptiform | Neuralgia, Trifacial | Neuralgia, Trigeminal | Neuralgias, Epileptiform | Neuralgias, Trifacial | Neuralgias, Trigeminal | TIC DOULOUREUX | TN | TN - Trigeminal neuralgia | TRIGEMINAL NEURALGIA | Tic Doloureux | Tic Douleureux | Tic Douloureux | Tic doloreux | Tic douloureux | Trifacial Neuralgia | Trifacial Neuralgias | Trifacial neuralgia | Trifocal neuralgia | Trigeminal Neuralgia | Trigeminal Neuralgia [Disease/Finding] | Trigeminal Neuralgias | Trigeminal neuralgia | Trigeminal neuralgia (diagnosis) | Trigeminal neuralgia (disorder) | Trigeminal neuralgia NOS | Trigeminal neuralgia NOS (disorder) | Trigeminal neuralgia [no drugs here] | Trigeminal neuralgia [no drugs here] (disorder) | Trigeminal neuralgia syndrome | Trigeminal neuralgia, NOS | Trigeminus neuralgia | cranial nerve; neuralgia, fifth or trigeminal | douloureux; tic | fothergill disease | neuralgia; Fothergill | neuralgia; cranial nerve, fifth or trigeminal | neuralgia; trifacial | neuralgia; trigeminal | pain; trigeminal | tic douloureux | tic; douloureux | trifacial; neuralgia | trifocal neuralgia | trigeminal neuralgia | trigeminal neuralgia; Fothergill | trigeminal; neuralgia | trigeminal; pain | trigeminus neuralgia CSP2006:syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the trigeminal nerve. | HPO2016_07_04:A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected. [HPO:sdoelken] | MEDLINEPLUS_20151021:Trigeminal neuralgia (TN) is a type of chronic pain that affects your face. It causes extreme, sudden burning or shock-like pain. It usually affects one side of the face. Any vibration on your face, even from talking, can set it off. The condition may come and go, disappearing for days or even months. But the longer you have it, the less often it goes away.
TN usually affects people over 50, especially women. The cause is probably a blood vessel pressing on the trigeminal nerve, one of the largest nerves in the head. Tumors and multiple sclerosis can also cause TN, but in some cases the cause is unknown.
There is no single test to diagnose TN. It can be hard to diagnose, since many other conditions can cause facial pain. Treatment options include medicines, surgery, and complementary techniques.
NIH: National Institute of Neurological Disorders and Stroke
| MSH2017_2016_08_12:A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187) HPO2016_07_04:HP:0100661|ICD10CM_2017:G50.0|ICD9CM_2014:350.1|MSH2017_2016_08_12:D014277|OMIM2016_04_17:190400|OMIM2016_04_17:MTHU017960|SNOMEDCT_US_2016_09_01:155066002|SNOMEDCT_US_2016_09_01:193090007|SNOMEDCT_US_2016_09_01:31681005|SNOMEDCT_US_2016_09_01:322769008 C0233572 Frenzy Frenzy | Frenzy (finding) | frenzy SNOMEDCT_US_2016_09_01:71038003 C2931228 Vacterl association, x-linked, with or without hydrocephalus VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS | VACTERL-H, X-LINKED | VACTERLX OMIM2016_04_17:314390 C4014294 Desbuquois dysplasia 2 DBQD2 | DESBUQUOIS DYSPLASIA 2 OMIM2016_04_17:608124|OMIM2016_04_17:615777 C1334179 Inflammatory leiomyosarcoma Inflammatory Leiomyosarcoma NCI2016_02D:A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells. C0031941 Pineal gland neoplasm BRAIN TUMOR, PINEAL GLAND | INTRACRANIAL NEOPLASM, PINEAL GLAND | Neoplasm of Pineal Gland | Neoplasm of pineal gland | Neoplasm of pineal gland (diagnosis) | Neoplasm of pineal gland (disorder) | Neoplasm of the Pineal Gland | Neoplasm, Pineal | Neoplasms, Pineal | PINEAL GLAND, TUMOR | Pineal Gland Neoplasm | Pineal Gland Tumor | Pineal Gland Tumors | Pineal Neoplasm | Pineal Neoplasms | Pineal Parenchymal Cell Neoplasm | Pineal Parenchymal Cell Tumor | Pineal Parenchymal Neoplasm | Pineal Parenchymal Tumor | Pineal Parenchymal Tumors | Pineal Tumor | Pineal Tumors | Pineal gland--Tumors | Pineal neoplasm | Pineal neoplasm NOS | Pineal parenchymal cell neoplasm | Pineal parenchymal tumor | Pineal parenchymal tumour | Pineal tumor | Pineal tumour | Pinealoma | Pinealoma (disorder) | Pinealoma (morphologic abnormality) | Pinealoma [Disease/Finding] | Pinealomas | Pineocytic Neoplasm | Pineocytic Tumor | Tumor of Pineal Gland | Tumor of pineal gland | Tumor of the Pineal Gland | Tumor, Pineal | Tumor, Pineal Gland | Tumor, Pineal Parenchymal | Tumors, Pineal | Tumors, Pineal Gland | Tumors, Pineal Parenchymal | Tumour of pineal gland | benign pinealoma | benign pinealoma (diagnosis) | gland pineal tumor | gland pineal tumors | gland pineal tumours | neoplasm of endocrine gland pineal | neoplasm uncertain behavior pinealoma | pineal body neoplasm | pineal gland tumor | pineal gland tumour | pineal region tumor | pineal region tumors | pineal tumor | pineal tumors | pinealoma | pinealoma (diagnosis) CSP2006:new abnormal pineal body tissue that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease. | HPO2016_07_04:A neoplasm of the pineal gland. [HPO:probinson] | MSH2017_2016_08_12:Neoplasms which originate from pineal parenchymal cells that tend to enlarge the gland and be locally invasive. The two major forms are pineocytoma and the more malignant pineoblastoma. Pineocytomas have moderate cellularity and tend to form rosette patterns. Pineoblastomas are highly cellular tumors containing small, poorly differentiated cells. These tumors occasionally seed the neuroaxis or cause obstructive HYDROCEPHALUS or Parinaud's syndrome. GERMINOMA; CARCINOMA, EMBRYONAL; GLIOMA; and other neoplasms may arise in the pineal region with germinoma being the most common pineal region tumor. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2064; Adams et al., Principles of Neurology, 6th ed, p670) | NCI2016_02D:A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.) HPO2016_07_04:HP:0010799|HPO2016_07_04:HP:0030693|HPO2016_07_04:HP:0030694|MSH2017_2016_08_12:D010871|SNOMEDCT_US_2016_09_01:127026004|SNOMEDCT_US_2016_09_01:359619007|SNOMEDCT_US_2016_09_01:47598005 C1336125 Stage ia squamous cell carcinoma of lung Stage IA Squamous Cell Carcinoma of Lung | Stage IA Squamous Cell Carcinoma of the Lung | Stage IA Squamous Cell Lung Carcinoma | Stage IA Squamous Cell Lung Carcinoma AJCC v7 NCI2016_02D:Stage IA includes: (T1a, N0, M0); (T1b, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.) C0206687 Carcinoma, endometrioid Carcinoma, Endometrioid | Carcinoma, Endometrioid [Disease/Finding] | Carcinomas, Endometrioid | ENDOMETRIOID CARCINOMA | Endometrioid Adenocarcinoma | Endometrioid Carcinoma | Endometrioid Carcinoma of Female Reproductive System | Endometrioid Carcinoma of the Female Reproductive System | Endometrioid Carcinomas | Endometrioid carcinoma | Endometrioid carcinoma (morphologic abnormality) | Female Reproductive Endometrioid Carcinoma | carcinoma endometrioid | carcinoma; endometrioid, unspecified site, female | endometrioid adenocarcinoma | endometrioid carcinoma | endometrioid carcinoma (diagnosis) | endometrioid; carcinoma, unspecified site, female MSH2017_2016_08_12:An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues. | NCI2016_02D:An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament. MSH2017_2016_08_12:D018269|SNOMEDCT_US_2016_09_01:30289006 C0028326 Noonan syndrome Familial Turner Syndrome | NOONAN SYNDROME | NOONAN SYNDROME 1 | NS1 | Noonan | Noonan Ehmke Syndrome | Noonan Syndrome | Noonan Syndrome 1 | Noonan Syndrome [Disease/Finding] | Noonan syndrome | Noonan syndrome (disorder) | Noonan's Syndrome | Noonan's syndrome | Noonan's syndrome (diagnosis) | Noonan's syndrome (disorder) | Noonan-Ehmke Syndrome | Noonan-Ehmke syndrome | PSEUDO-TURNER SYNDROME | Pseudo Ullrich Turner Syndrome | Pseudo-Ullrich-Turner Syndrome | Syndrome, Familial Turner | Syndrome, Noonan | Syndrome, Noonan-Ehmke | Syndrome, Pseudo-Ullrich-Turner | Syndrome, Turner-Like | Syndrome, Ullrich-Noonan | Turner Like Syndrome | Turner Phenotype with Normal Karyotype | Turner Syndrome, Familial | Turner phenotype with normal karyotype | Turner phenotype, karyotype normal | Turner syndrome in female with X chromosome | Turner's Phenotype, Karyotype Normal | Turner's phenotype, karyo norm | Turner's phenotype, karyotype normal | Turner's phenotype, karyotype normal (disorder) | Turner-Like Syndrome | Turner-like syndrome | Ullrich Noonan Syndrome | Ullrich-Noonan Syndrome | Ullrich-Noonan syndrome | Ullrich-Turner syndrome | familial Turner syndrome | familial syndrome turners | male turner syndrome | males syndrome turners | noonan syndrome | noonan's syndrome | noonans syndrome | pseudo-Ullrich-Turner syndrome JABL99:A cardiofacial syndrome with a variable phenotype, which may change with age, many characteristics of which overlap those of the Turner syndrome. Short stature and mild mental retardation are the main features of this syndrome. Webbed neck, heart defects, chest deformities, characteristic facial features, and other abnormalities, and occasional hyperpyrexia may be associated. Cardiofaciocutaneous and Noonan syndromes are sometimes considered the same entity. | MSH2017_2016_08_12:A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1. | NCI2016_02D:A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function. | NCI2016_02D:Noonan syndrome caused by mutations in the PTPN11 gene. ICD10CM_2017:Q87.1|MSH2017_2016_08_12:D009634|OMIM2016_04_17:163950|OMIM2016_04_17:176876|SNOMEDCT_US_2016_09_01:205684007|SNOMEDCT_US_2016_09_01:205794007|SNOMEDCT_US_2016_09_01:205824006|SNOMEDCT_US_2016_09_01:88327006 C1837549 Spondylocostal dysostosis, autosomal recessive 2 Autosomal recessive spondylocostal dysostosis | SCDO2 | SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE | SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 | Spondylocostal Dysostosis 2, Autosomal Recessive | Spondylocostal dysostosis, autosomal recessive MSH2017_2016_08_12:C535781|OMIM2016_04_17:605195|OMIM2016_04_17:608681 C1842445 Aitd2 AITD2 | AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2 OMIM2016_04_17:608174 C4021771 Short distal phalanx of toe Hypoplastic distal phalanges of feet | Short distal phalanx of toe | Short outermost bone of toe HPO2016_07_04:Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe. [pmid:19125433] HPO2016_07_04:HP:0001857 C1848913 Tay-sachs disease, juvenile TAY-SACHS DISEASE, JUVENILE | Tay-Sachs Disease, Juvenile MSH2017_2016_08_12:C564782|OMIM2016_04_17:272800|OMIM2016_04_17:606869 C0520541 Hypotensive episode HYPOTENSIVE EPISODE | Hypotensive episode | Hypotensive episode (disorder) | episodes hypotensive | hypotensive episode SNOMEDCT_US_2016_09_01:67763001 C0747752 Polysubstance abuse POLYSUBSTANCE ABUSE | Polysubstance abuse | Polysubstance abuse (disorder) | multisubstance abuse | polysubstance abuse SNOMEDCT_US_2016_09_01:445273005 C1510429 Entrapment neuropathies Compression neuropathy | Compression neuropathy (disorder) | Entrapment Neuropathies | Entrapment Neuropathy | Entrapment neuropathies | Entrapment neuropathy | Entrapment neuropathy, NOS | Entrapment syndrome | Entrapment syndrome, NOS | NERVE ENTRAPMENT SYNDROME | Nerve entrapment syndrome | Nerve entrapment syndromes | Neuropathies, Entrapment | Neuropathy, Entrapment | Peripheral nerve entrapment syndrome | Peripheral nerve entrapment syndrome (disorder) | Trapped nerve | neuropathy; entrapment HPO2016_07_04:Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss. [HPO:probinson] HPO2016_07_04:HP:0012181|MSH2017_2016_08_12:D009408|OMIM2016_04_17:MTHU024118|SNOMEDCT_US_2016_09_01:155085004|SNOMEDCT_US_2016_09_01:45781009 C4021081 Absent nail of hallux Absent big toe nail | Absent nail of big toe | Absent nail of hallux HPO2016_07_04:Absent nail of big toe. [HPO:probinson] HPO2016_07_04:HP:0012555 C0039503 Tendinitis Inflammatory disorder of tendon | TENDINITIS | TENDONITIS | Tendinitides | Tendinitis | Tendinitis (disorder) | Tendinitis NOS | Tendinitis NOS (disorder) | Tendinitis, NOS | Tendon inflamed | Tendonitides | Tendonitis | Tendonitis NOS | Tendonitis, NOS | disease (or disorder); tendon, inflammatory | inflammation; tendon | tendinitis | tendon; disorder, inflammatory | tendon; inflammation | tendonitis | tendonitis (diagnosis) MEDLINEPLUS_20151021:Tendons are flexible bands of tissue that connect muscles to bones. They help your muscles move your bones. Tendinitis is the severe swelling of a tendon.
Tendinitis usually happens after repeated injury to an area such as the wrist or ankle. It causes pain and soreness around a joint. Some common forms of tendinitis are named after the sports that increase their risk. They include tennis elbow, golfer's elbow, pitcher's shoulder, swimmer's shoulder, and jumper's knee.
Doctors diagnose tendinitis with your medical history, a physical exam, and imaging tests. The first step in treatment is to reduce pain and swelling. Rest, wrapping or elevating the affected area, and medicines can help. Ice is helpful for recent, severe injuries. Other treatments include ultrasound, physical therapy, steroid injections, and surgery.
| MSH2017_2016_08_12:Inflammation of TENDONS. It is characterized by the degeneration of tendons accompanied by an inflammatory repair response, fibroblastic proliferation, and formation of granulation tissue. Tendinitis is not a clinical diagnosis and can be confirmed only by histopathological findings. | NCI2016_02D:Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body. ICD10CM_2017:M77.9|MSH2017_2016_08_12:D052256|OMIM2016_04_17:MTHU026377|SNOMEDCT_US_2016_09_01:156665008|SNOMEDCT_US_2016_09_01:202893001|SNOMEDCT_US_2016_09_01:267996008|SNOMEDCT_US_2016_09_01:268091003|SNOMEDCT_US_2016_09_01:312785002|SNOMEDCT_US_2016_09_01:34840004 C0278724 Ds stage iii plasma cell myeloma DS Stage III Multiple Myeloma | DS Stage III Plasma Cell Myeloma | Durie/Salmon Stage III Multiple Myeloma | Durie/Salmon Stage III Plasma Cell Myeloma | Multiple Myeloma Stage III | Stage III Multiple Myeloma | Stage III Plasma Cell Myeloma | multiple myeloma, stage III | plasma cell neoplasm, stage III | stage III multiple myeloma NCI2016_02D:Plasma cell myeloma with one or more of the following: 1. Hemoglobin less than 8.5 g/dL. 2. Serum calcium greater than 12.0 mg/dL. 3. More than three lytic bone lesions. 4. High M protein production as shown by: a. IgG greater than 7.0 g/dL. b. IgA greater than 5.0 g/dL. c. Urinary kappa or lamda greater than 12.0 g/24 hours. Estimated myeloma cell mass: greater than 1.2 trillion (1012)/m2 (high burden). The following subclassification of stages is used: a. Creatinine less than 2.0 mg/dL. b. Creatinine greater than or equal to 2.0 mg/dL. Serum beta-2-microglobulin has been shown to be a reliable marker for prognosis. Since the great majority of symptomatic myeloma patients are classified as stage III by the Durie/Salmon criteria, this staging system has not proven to be very useful for identifying the patients with intermediate and poor prognosis. Note that the newer International Staging System defines stage III quite differently: Beta-2-microglobulin greater than or equal to 5.5 (median survival of 29 months). (PDQ) | NCI2016_NCI-GLOSS_1602D:A relatively large number of cancer cells have spread throughout the body. There may be one or more of the following: 1) a decrease in the number of red blood cells, causing anemia; 2) the amount of calcium in the blood is very high, because the bones are being damaged; 3) more than three bone tumors (plasmacytomas) are found; or 4) high levels of M protein are found in the blood or urine. C4015395 Generalized epilepsy with febrile seizures plus, type 9 GEFS+, TYPE 9 | GEFS+9 | GEFSP9 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 OMIM2016_04_17:601485|OMIM2016_04_17:616172 C1864923 Northern epilepsy syndrome CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT | Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant | EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION | EPMR | Epilepsy progressive with mental retardation | Epilepsy, Progressive, With Mental Retardation | NORTHERN EPILEPSY | Neuronal ceroid lipofuscinosis 8 | Neuronal ceroid lipofuscinosis 8 (disorder) | Northern epilepsy | Northern epilepsy syndrome | Progressive epilepsy with mental retardation MSH2017_2016_08_12:C537952|OMIM2016_04_17:607837|OMIM2016_04_17:610003|SNOMEDCT_US_2016_09_01:703526007 C0346019 Mucoepidermoid carcinoma of skin Mucoepidermal eccrine carcinoma | Mucoepidermoid Carcinoma of Skin | Mucoepidermoid Carcinoma of the Skin | Mucoepidermoid Skin Carcinoma | Mucoepidermoid carcinoma of skin | Mucoepidermoid carcinoma of skin (disorder) | Primary mucoepidermoid carcinoma of skin | mucoepidermoid carcinoma of skin | mucoepidermoid carcinoma of skin (diagnosis) SNOMEDCT_US_2016_09_01:254713002 C1333866 Grade 1 colon adenocarcinoma Grade 1 Colon Adenocarcinoma | Grade I Colon Adenocarcinoma | Well Differentiated Colon Adenocarcinoma NCI2016_02D:A colon adenocarcinoma characterized by the presence of a malignant cellular infiltrate with more than 95% glandular formation. C3551424 Ectd8 ECTD8 | ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE OMIM2016_04_17:602401 C0234512 Prosopagnosia Agnosia for Face | Agnosia for Faces | Agnosia for faces | Agnosia, Facial Recognition | Agnosias, Facial Recognition | FACE BLINDNESS | Face Blindness | Face blindness | Facial Recognition Agnosia | Facial Recognition Agnosias | Facial agnosia | Prosopagnosia | Prosopagnosia (finding) | Prosopagnosia [Disease/Finding] | Prosopagnosias | Recognition Agnosia, Facial | Recognition Agnosias, Facial | prosopagnosia HPO2016_07_04:Inability to recognize faces of familair persons. [HPO:probinson] | MSH2017_2016_08_12:The inability to recognize a familiar face or to learn to recognize new faces. This visual agnosia is most often associated with lesions involving the junctional regions between the temporal and occipital lobes. The majority of cases are associated with bilateral lesions, however unilateral damage to the right occipito-temporal cortex has also been associated with this condition. (From Cortex 1995 Jun;31(2):317-29) | NCI2016_02D:Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury. | PSY2004:A visual agnosia usually due to brain damage and characterized by an inability to recognize familiar faces, and in some cases, one's own face. HPO2016_07_04:HP:0010528|ICD10CM_2017:R48.3|MSH2017_2016_08_12:D020238|OMIM2016_04_17:610382|SNOMEDCT_US_2016_09_01:18358003 C0393735 Headache disorders Cephalgia Syndrome | Cephalgia Syndromes | HEADACHE DISORDER | Headache Disorder | Headache Disorders | Headache Disorders [Disease/Finding] | Headache Syndrome | Headache Syndromes | Headache disorder | Headache disorder (disorder) | Syndrome, Headache | disorders headache | disorders headaches | headache disorders | headache syndrome | headache syndromes | headache syndromes (diagnosis) | headache; syndrome | headaches syndrome | headaches syndromes | syndrome; headache MSH2017_2016_08_12:Various conditions with the symptom of HEADACHE. Headache disorders are classified into major groups, such as PRIMARY HEADACHE DISORDERS (based on characteristics of their headache symptoms) and SECONDARY HEADACHE DISORDERS (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) MSH2017_2016_08_12:D020773|SNOMEDCT_US_2016_09_01:230461009|SNOMEDCT_US_2016_09_01:395602009 C1708957 Mediastinal paraganglioma Mediastinal Paraganglioma NCI2016_02D:A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia in the mediastinum. Clinical signs and symptoms include chest pain, cough, hoarseness, and dysphagia. C3661551 Complex partial epileptic seizure of temporal lobe Complex partial epileptic seizure of temporal lobe | Complex partial seizure of temporal lobe | Partial epileptic seizure of temporal lobe with impairment of consciousness | Partial epileptic seizure of temporal lobe with impairment of consciousness (disorder) | Partial seizures of the temporal lobe with impairment of conciousness | Partial seizures of the temporal lobe with impairment of conciousness (disorder) SNOMEDCT_US_2016_09_01:84191000119107 C3650171 Atherosclerosis of nonautologous bypass graft of extremities with rest pain atherosclerosis of nonautologous bypass graft of extremities with rest pain | atherosclerosis of nonautologous bypass graft of extremities with rest pain (diagnosis) C1845168 Hypophosphatemic rickets, x-linked recessive HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE | Hypophosphatemic Rickets, X Linked Recessive | Hypophosphatemic Rickets, X-Linked Recessive MSH2017_2016_08_12:An X-linked recessive disorder associated with mutations in CLCN5, CHLORIDE CHANNEL 5. MSH2017_2016_08_12:D053098|OMIM2016_04_17:300008|OMIM2016_04_17:300554 C1855580 Exercise-induced muscle fatigue Exercise-induced muscle fatigue HPO2016_07_04:An abnormally increased tendency towards muscle fatigue induced by physical exercise. [HPO:curators] HPO2016_07_04:HP:0009020|OMIM2016_04_17:MTHU011946 C2750786 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY | MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY | Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency | Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency MSH2017_2016_08_12:C567709|OMIM2016_04_17:600536|OMIM2016_04_17:613204 C1836505 Myopia 8 (disorder) MYOPIA 8 | MYOPIA 8 (disorder) | MYP8 | Myopia 8 MSH2017_2016_08_12:C563760|OMIM2016_04_17:609257 C4025086 Irregular metacarpals Irregular long bones of hand | Irregular metacarpals HPO2016_07_04:Irregular morphology of one or more metacarpal bones. [HPO:probinson] HPO2016_07_04:HP:0006160 C0751093 Dystonia, limb Dystonia, Limb | Limb Dystonia | Limb dystonia HPO2016_07_04:A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. [HPO:probinson] HPO2016_07_04:HP:0002451|MSH2017_2016_08_12:D004421|OMIM2016_04_17:MTHU001899 C1135207 Ataxia as late effect of cerebrovascular disease Ataxia as late effect of cerebrovascular disease | Other late effects of cerebrovascular disease, ataxia | ataxia as late effect of cerebrovascular disease | ataxia as late effect of cerebrovascular disease (diagnosis) | late CVD effects: ataxia ICD9CM_2014:438.84 C0267556 Osmotic diarrhea Osmotic diarrhea | Osmotic diarrhea (disorder) | Osmotic diarrhoea | Permeability diarrhea | Permeability diarrhoea | osmotic diarrhea SNOMEDCT_US_2016_09_01:2946003 C1408507 Supranuclear ophthalmoplegia Supranuclear ophthalmoplegia | ophthalmoplegia; supranuclear | supranuclear; ophthalmoplegia HPO2016_07_04:A vertical gaze palsy with inability to direct the gaze of the eyes downwards. [HPO:probinson, pmid:20629667] HPO2016_07_04:HP:0000623|OMIM2016_04_17:MTHU012787 C1857627 Chorioretinal dystrophy Chorioretinal dystrophy HPO2016_07_04:HP:0001135|OMIM2016_04_17:MTHU013755 C4273726 Congenital dysplasia of cardiac valve Congenital dysplasia of cardiac valve | Congenital dysplasia of cardiac valve (disorder) | Congenital valvular dysplasia SNOMEDCT_US_2016_09_01:A rare entity usually diagnosed by echocardiography. It may be limited to one of the four valves but can also involve the two atrioventricular valves and the two semilunar valves. May be the hallmark of genetic anomalies. Chromosomal anomalies should be searched when polyvalvular dysplasia is found in a fetus, namely trisomy 18 and trisomy 13. Triscuspid valve dysplasia can be the only cardiac finding in trisomy 21 and a karyotype analysis should be performed in all fetuses exhibiting this anomaly. In the absence of chromosomal anomalies, polyvalvular dysplasia can be observed in Noonan syndrome. Thickening of the different cardiac valves can be observed in various storage diseases such as mucopolysaccharidoses. In these later conditions, it develops after the neonatal period and is frequently associated with extracardiac symptoms suggestive of the diagnosis. SNOMEDCT_US_2016_09_01:718128009 C0149645 Cervical myelopathy CERVICAL MYELOPATHY | Cervical myelopathy | Cervical myelopathy (disorder) | Myelopathy cervical | cervical myelopathy HPO2016_07_04:HP:0002318|OMIM2016_04_17:MTHU011163|SNOMEDCT_US_2016_09_01:202664003 C0002949 Aneurysm, dissecting ANEURYSM DISSECTING | ANEURYSM, DISSECTING | Aneurysm, Dissecting | Aneurysm, Dissecting [Disease/Finding] | Aneurysm, dissecting | Aneurysm;dissecting | Aneurysms, Dissecting | Arterial Dissection | Arterial dissection | Arterial dissection (disorder) | Artery NOS dissection | Artery dissection | DA - Dissecting aneurysm | Dissecting Aneurysm | Dissecting Aneurysms | Dissecting aneurysm | Dissecting aneurysm (morphologic abnormality) | Dissecting aneurysm of artery | Dissecting aneurysm of artery (disorder) | Dissecting aneurysm of artery, NOS | Dissection of artery | Dissection of artery (disorder) | aneurysm dissecting | arterial dissection | arterial dissections | arteries dissection | artery dissecting aneurysm | artery dissection | artery; dissection | dissecting aneurysm | dissecting aneurysms | dissection arterial | dissection of artery | dissection of artery (diagnosis) | dissection; artery HPO2016_07_04:A separation (dissection) of the layers of an artery. [HPO:probinson] | MSH2017_2016_08_12:An aneurysm caused by a tear in the TUNICA INTIMA of a blood vessel leading to interstitial HEMORRHAGE, and splitting (dissecting) of the vessel wall, often involving the AORTA. Dissection between the tunica intima and TUNICA MEDIA causes luminal occlusion. Dissection at the media, or between the media and the outer ADVENTITIA causes aneurismal dilation. | NCI2016_02D:A tear within the wall of the artery. HPO2016_07_04:HP:0005294|MSH2017_2016_08_12:D000784|SNOMEDCT_US_2016_09_01:233992003|SNOMEDCT_US_2016_09_01:26845001|SNOMEDCT_US_2016_09_01:710864009|SNOMEDCT_US_2016_09_01:9406001 C2717756 Corneal endothelial cell damage Corneal Endothelial Cell Damage | Corneal Endothelial Cell Loss | Corneal Endothelial Cell Loss [Disease/Finding] | Corneal endothelial cell loss | Endothelial Cell Loss, Corneal MSH2017_2016_08_12:Loss of CORNEAL ENDOTHELIUM usually following intraocular surgery (e.g., cataract surgery) or due to FUCHS' ENDOTHELIAL DYSTROPHY; ANGLE-CLOSURE GLAUCOMA; IRITIS; or aging. MSH2017_2016_08_12:D055954 C0857379 Auricular malformation Abnormal form of ears | Abnormality of the pinna | Abnormally shaped ears | Auricular malformation | Deformed auricles | Deformed ears | Dysplastic ears | Malformation of auricle | Malformed auricles | Malformed ear | Malformed ears | Malformed external ears | Minor malformation of the auricles | Poorly defined conchae | malformed ear HPO2016_07_04:An abnormality of the pinna, which is also referred to as the auricle or external ear. [HPO:probinson] HPO2016_07_04:HP:0000377|OMIM2016_04_17:MTHU000261|OMIM2016_04_17:MTHU004832|OMIM2016_04_17:MTHU007970|OMIM2016_04_17:MTHU013944|OMIM2016_04_17:MTHU015650|OMIM2016_04_17:MTHU017280|OMIM2016_04_17:MTHU018861 C4072877 Scalp folds Scalp folds | Scalp furrows HPO2016_07_04:HP:0010541 C4025749 Abnormality of the spleen Abnormality of the spleen HPO2016_07_04:An abnormality of the spleen. [HPO:probinson] HPO2016_07_04:HP:0001743 C1456781 Benign melanocytic nevus Benign Melanocytic Nevus | Benign Melanocytic Nevus of Skin | Benign Melanocytic Nevus of the Skin | Benign Melanocytic Skin Nevus | Benign Mole | Benign Nevus of Skin | Benign Nevus of the Skin | Benign Skin Nevus | Benign melanocytic naevus | Benign melanocytic naevus (morphologic abnormality) | Benign melanocytic naevus of skin | Benign melanocytic naevus of skin (disorder) | Benign melanocytic nevus | Benign melanocytic nevus of skin | Benign melanoma | Benign naevus of skin | Benign nevus of skin | Mole - benign | Mole;benign | NEVUS BENIGN | Naevus - benign | Naevus;benign | Neoplasm benign;naevus;skin | Nevus - benign | benign melanoma | benign melanoma of skin | benign mole | benign naevus | benign nevi | benign nevus | benign skin melanoma | benign skin naevus | benign skin nevus | melanocytic naevus | melanocytic nevus | mole | moles | naevus | nevus | skin mole NCI2016_02D:A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus. SNOMEDCT_US_2016_09_01:109265005|SNOMEDCT_US_2016_09_01:154613008|SNOMEDCT_US_2016_09_01:189051001|SNOMEDCT_US_2016_09_01:189086004|SNOMEDCT_US_2016_09_01:21119008|SNOMEDCT_US_2016_09_01:247457003|SNOMEDCT_US_2016_09_01:253037001|SNOMEDCT_US_2016_09_01:254801004|SNOMEDCT_US_2016_09_01:269639005|SNOMEDCT_US_2016_09_01:400010006 C0018989 Hemiparesis HEMIPARESIS | Hemipareses | Hemiparesis | Hemiparesis (disorder) | Hemiparesis (weakness on one side) | Unilateral paresis | Unilateral paresis (finding) | Unilateral paresis (situation) | Weakness of one side of body | body one side weakness | hemipareses | hemiparesis | hemiparesis (physical finding) | hemiparesis was seen | paresis of one side of body | paresis unilateral HPO2016_07_04:Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. [HPO:probinson, UKB:tklockgether] | NCI2016_02D:Weakness or incomplete paralysis of either the left or right side of the body. | NCI2016_NICHD_1602D:Weakness or incomplete paralysis of either the left or right side of the body. HPO2016_07_04:HP:0001269|MSH2017_2016_08_12:D010291|OMIM2016_04_17:MTHU000543|SNOMEDCT_US_2016_09_01:127377003|SNOMEDCT_US_2016_09_01:155029008|SNOMEDCT_US_2016_09_01:192941004|SNOMEDCT_US_2016_09_01:20022000 C2675187 Microcephaly, primary autosomal recessive, 7 (disorder) MCPH7 | MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE | MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder) | Microcephaly, Primary Autosomal Recessive, 7 MSH2017_2016_08_12:C567198|OMIM2016_04_17:181590|OMIM2016_04_17:612703 C1855986 Hydroxylysinuria HYDROXYLYSINURIA | Hydroxylysinuria MSH2017_2016_08_12:C565502|OMIM2016_04_17:236900 C1334362 Large cell acanthoma Large Cell Acanthoma C1274865 Scleroderma-like secondary cutaneous sclerosis Pseudoscleroderma | Scleroderma-like secondary cutaneous sclerosis | Scleroderma-like secondary cutaneous sclerosis (disorder) HPO2016_07_04:HP:0100324|OMIM2016_04_17:MTHU010022|SNOMEDCT_US_2016_09_01:403524003 C0702159 Constitutional aplastic anemia Aplastic anemia, constitutional | Congenital aplastic anaemia | Congenital aplastic anemia | Constitut.aplastic anaemia NOS | Constitut.aplastic anemia NOS | Constitutional aplastic anaem. | Constitutional aplastic anaemia | Constitutional aplastic anaemia (disorder) | Constitutional aplastic anaemia NOS | Constitutional aplastic anaemia, NOS | Constitutional aplastic anemia | Constitutional aplastic anemia (disorder) | Constitutional aplastic anemia NOS | Constitutional aplastic anemia NOS (disorder) | Constitutional aplastic anemia [dup] (disorder) | Constitutional aplastic anemia, NOS | Hypoplastic anaemia - familial | Hypoplastic anemia - familial | anemia; aplastic, congenital | anemia; aplastic, constitutional | aplastic; anemia, congenital | aplastic; anemia, constitutional | congenital aplastic anemia CSP2006:familial or idiopathic form, usually fatal; Fanconi's anemia presents before age 10, marked by microcephaly, skin discolorations, and sexual and mental retardation. ICD10CM_2017:D61.0|ICD9CM_2014:284.0|SNOMEDCT_US_2016_09_01:154808006|SNOMEDCT_US_2016_09_01:191235004|SNOMEDCT_US_2016_09_01:191242004|SNOMEDCT_US_2016_09_01:267523003|SNOMEDCT_US_2016_09_01:28975000 C0279706 Lymphoepithelial cancer of thymus Lymphoepithelial Cancer of Thymus | Lymphoepithelial Cancer of the Thymus | Lymphoepithelial Thymus Cancer | Lymphoepithelial malignant thymoma | Lymphoepithelioma-like Carcinoma of Thymus | Lymphoepithelioma-like Carcinoma of the Thymus | Lymphoepithelioma-like Thymic Carcinoma | Lymphoepithelioma-like Thymus Carcinoma | Malignant Lymphoepithelial Thymoma | Thymic Lymphoepithelioma-Like Carcinoma NCI2016_02D:A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection. C2702698 Forgetting names forgetting names | forgetting names (symptom) C1335981 Small cell undifferentiated hepatoblastoma Small Cell Undifferentiated Hepatoblastoma NCI2016_02D:A hepatoblastoma composed exclusively of noncohesive sheets of small undifferentiated cells. C0678202 Granulomatous enteritis ENTERITIS, REGIONAL | Enteritis - regional | Enteritis, Granulomatous | Enteritis, Regional | Enteritis;regional | Granulomatous Enteritis | Granulomatous enteritis | Granulomatous enteritis (disorder) | REGIONAL ENTERITIS | Regional Enteritis | Regional enteritis | Regional enteritis (disorder) | Regional enteritis NOS | Regional enteritis NOS (disorder) | Regional enteritis of unspecified site | bowel; regional enteritis | granulomatous enteritis | regional enteritis | regional enteritis (diagnosis) NCI2016_NCI-GLOSS_1602D:A condition in which the gastrointestinal tract is inflamed over a long period of time. Regional enteritis usually affects the small intestine and colon. Symptoms include fever, diarrhea, stomach cramps, vomiting, and weight loss. Regional enteritis increases the risk of colorectal cancer and small intestine cancer. It is a type of inflammatory bowel disease (IBD). ICD10CM_2017:K50.90|ICD9CM_2014:555|ICD9CM_2014:555.9|MSH2017_2016_08_12:D003424|SNOMEDCT_US_2016_09_01:155760003|SNOMEDCT_US_2016_09_01:155763001|SNOMEDCT_US_2016_09_01:196984001|SNOMEDCT_US_2016_09_01:266517004|SNOMEDCT_US_2016_09_01:278522007 C4025279 Respiratory failure requiring assisted ventilation Respiratory failure requiring assisted ventilation HPO2016_07_04:HP:0004887 C0263334 Aquagenic urticaria Aquagenic angio-edema-urticaria | Aquagenic angio-oedema-urticaria | Aquagenic angioedema-urticaria | Aquagenic urticaria | Aquagenic urticaria (disorder) | URTICARIA, AQUAGENIC | Urticaria aquagenic | Urticaria, Aquagenic | aquagenic urticaria MSH2017_2016_08_12:C562481|OMIM2016_04_17:191850|SNOMEDCT_US_2016_09_01:89870006 C0008096 Children exceptional Child, Exceptional | Children, Exceptional | Exceptional Child | Exceptional Children | Exceptional children | Feral children | children exceptional | exceptional children | feral children MSH2017_2016_08_12:A child whose needs, abilities, or other characteristics vary so much from the average in mental, physical, or social areas that a greater than usual level of services is needed to facilitate the child's maximum potential development. MSH2017_2016_08_12:D002671 C1843187 Hoarse voice due to vocal cord paresis Hoarse voice due to vocal cord paresis HPO2016_07_04:HP:0001604|OMIM2016_04_17:MTHU002854 C0522624 Subcutaneous panniculitis-like t-cell lymphoma SPTCL | Subcutaneous Panniculitis-Like T-Cell Lymphoma | Subcutaneous Panniculitis-Like T-Cell Lymphoma (Alpha/Beta Type) | Subcutaneous Panniculitis-Like T-Cell Lymphoma, Alpha/Beta Type | Subcutaneous panniculitic T-cell lymphoma | Subcutaneous panniculitic T-cell lymphoma (morphologic abnormality) | Subcutaneous panniculitic cutaneous T-cell lymphoma | Subcutaneous panniculitic cutaneous T-cell lymphoma (disorder) | Subcutaneous panniculitis-like T-cell lymphoma | lymphoma mature t-cell subcutaneous panniculitis-like | subcutaneous panniculitis-like T-cell lymphoma | subcutaneous panniculitis-like T-cell lymphoma (diagnosis) NCI2016_02D:A cytotoxic primary cutaneous T-cell lymphoma. Recent studies suggest there are at least two groups of subcutaneous panniculitis-like T-cell lymphomas, each with distinct histologic features, immunophenotypic profile, and prognosis. One group has an alpha/beta, CD8 positive phenotype, involves only subcutaneous tissues, and usually has an indolent clinical course. The second group has a gamma/delta phenotype, is CD8 negative, often co-expresses CD56, is not confined to the subcutaneous tissues, and usually has a poor prognosis. In the recent WHO-EORTC classification, the term subcutaneous panniculitis-like T-cell lymphoma is reserved for cases with an alpha/beta, CD8 positive phenotype. Cases with a gamma/delta phenotype are included in the group of cutaneous gamma/delta T-cell lymphomas. ICD10CM_2017:C86.3|MSH2017_2016_08_12:C537503|SNOMEDCT_US_2016_09_01:103682005|SNOMEDCT_US_2016_09_01:404133000 C1295585 Decreased vibratory sense Decreased vibration sense | Decreased vibratory sense | Decreased vibratory sense (biological function) | Decreased vibratory sense (biological function) (finding) | Decreased vibratory sense (finding) | Decreased vibratory sense -RETIRED- | Diminished vibratory sense | Impaired vibratory sensation | Impaired vibratory sense | VIBRATORY SENSATION DECREASED | VIBRATORY SENSITIVITY DECREASE | decreased vibratory sensation | decreased vibratory sensation (physical finding) | sensation vibration decrease | vibratory sensation decreased HPO2016_07_04:A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. [HPO:probinson] HPO2016_07_04:HP:0002495|OMIM2016_04_17:MTHU006559|OMIM2016_04_17:MTHU012963|OMIM2016_04_17:MTHU026058|SNOMEDCT_US_2016_09_01:124747002|SNOMEDCT_US_2016_09_01:130980003 C4083050 Agenesis of teeth Agenesis of teeth | Tooth agenesis HPO2016_07_04:HP:0009804|OMIM2016_04_17:MTHU018983 C2748531 Perifollicular fibrosis Perifollicular fibrosis | Perifollicular fibrosis (finding) HPO2016_07_04:Presence of excess fibrous connective tissue surrounding hair follicules. [] HPO2016_07_04:HP:0030054|OMIM2016_04_17:MTHU024871 C1838664 Enlargement of the ankles Enlargement of the ankles HPO2016_07_04:HP:0003029|OMIM2016_04_17:MTHU006651 C2678476 Cardiomyopathy, dilated, 1y CARDIOMYOPATHY, DILATED, 1Y | CMD1Y | Cardiomyopathy, Dilated, 1y MSH2017_2016_08_12:C567507|OMIM2016_04_17:191010|OMIM2016_04_17:611878 C2752071 Heterotopia, periventricular, associated with chromosome 5q deletion CHROMOSOME 5q14.3 DELETION SYNDROME, DISTAL | HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5q DELETION | Heterotopia, Periventricular, Associated With Chromosome 5q Deletion | PERIVENTRICULAR NODULAR HETEROTOPIA 5 | PVNH5 | Periventricular Nodular Heterotopia 5 MSH2017_2016_08_12:C567876|OMIM2016_04_17:612881 C0086227 Enterobiasis ENTEROBIASIS | Enterobiases | Enterobiasis | Enterobiasis (disorder) | Enterobiasis - threadworm | Enterobiasis [Disease/Finding] | Enterobiasis threadworm | Enterobiosis | Enterobius vermicularis Infection | Enterobius vermicularis Infections | Enterobius vermicularis infection | Enterobius vermicularis; infestation | INFECTION, PINWORM | INFECTION, SEATWORM | Infection by Enterobius vermicularis | Infection by Enterobius vermicularis (disorder) | Infection by Enterobius vermicularis (disorder) [Ambiguous] | Infection caused by Enterobius vermicularis | Infection caused by Enterobius vermicularis (disorder) | Infection, Enterobius vermicularis | Infection, Oxyuris vermicularis | Infections, Enterobius vermicularis | Infections, Oxyuris vermicularis | Oxyuris vermicularis Infection | Oxyuris vermicularis Infections | Oxyuris vermicularis infection | Oxyuris vermicularis infection (disorder) | Oxyuris vermicularis; infestation | Pinworm | Pinworm disease | Pinworm infection | Pinworm infection (disorder) | Pinworm infestation | Pinworms | Seatworm infection | THREADWORM | Threadworm | Threadworm infection | Threadworms | Threadworms - enterobiasis | disease (or disorder); pinworm | enterobiasis | enterobiasis (diagnosis) | infestation; Enterobius vermicularis | infestation; Oxyuris vermicularis | pinworm disease | pinworm infection | pinworm; disease | pinworms | threadworm; infection | threadworms MEDLINEPLUS_20151021:Pinworms are small parasites that can live in the colon and rectum. You get them when you swallow their eggs. The eggs hatch inside your intestines. While you sleep, the female pinworms leave the intestines through the anus and lay eggs on nearby skin.
Pinworms spread easily. When people who are infected touch their anus, the eggs attach to their fingertips. They can spread the eggs to others directly through their hands, or through contaminated clothing, bedding, food, or other articles. The eggs can live on household surfaces for up to 2 weeks.
The infection is more common in children. Many people have no symptoms at all. Some people feel itching around the anus or vagina. The itching may become intense, interfere with sleep, and make you irritable.
Your health care provider can diagnose pinworm infection by finding the eggs. A common way to collect the eggs is with a sticky piece of clear tape. Mild infections may not need treatment. If you do need medicine, everyone in the household should take it.
To prevent becoming infected or reinfected with pinworms,
NIH: National Institute of Allergy and Infectious Diseases
| MSH2017_2016_08_12:Infection with nematodes of the genus ENTEROBIUS; E. vermicularis, the pinworm of man, causes a crawling sensation and pruritus. This condition results in scratching the area, occasionally causing scarification. ICD10CM_2017:B80|ICD9CM_2014:127.4|MSH2017_2016_08_12:D017229|SNOMEDCT_US_2016_09_01:154412007|SNOMEDCT_US_2016_09_01:187178006|SNOMEDCT_US_2016_09_01:19722001|SNOMEDCT_US_2016_09_01:266162007|SNOMEDCT_US_2016_09_01:266221005|SNOMEDCT_US_2016_09_01:360417007|SNOMEDCT_US_2016_09_01:360419005 C3661860 Rasmussen syndrome, intractable Rasmussen syndrome, intractable | Rasmussen syndrome, refractory | Rasmussen syndrome, refractory (disorder) SNOMEDCT_US_2016_09_01:435341000124104 C1290708 Osteomyelitis of mandible Mandibular osteomyelitis | Osteomyelitis of mandible | Osteomyelitis of mandible (disorder) | Osteomyelitis, especially of the mandible | mandible osteomyelitis | mandibular osteomyelitis | mandibular osteomyelitis (diagnosis) | osteomyelitis mandible | osteomyelitis of mandible | osteomyelitis of mandible (diagnosis) HPO2016_07_04:HP:0007626|OMIM2016_04_17:MTHU016432|SNOMEDCT_US_2016_09_01:109695005 C0311221 Polyarticular juvenile rheumatoid arthritis Polyarticular juvenile rheumatoid arthritis | Polyarticular juvenile rheumatoid arthritis (disorder) | Polyarticular juvenile rheumatoid arthritis (disorder) [Ambiguous] | Polyarticular juvenile rheumatoid arthritis, NOS | juvenile idiopathic arthritis, polyarticular | polyarticular juvenile idiopathic arthritis | polyarticular juvenile idiopathic arthritis (diagnosis) SNOMEDCT_US_2016_09_01:201798003|SNOMEDCT_US_2016_09_01:445479007|SNOMEDCT_US_2016_09_01:86119004 C4280565 Delayed maturation of end part of long bone Delayed maturation of end part of long bone HPO2016_07_04:HP:0002663 C0018926 Hematemesis EMESIS BLOODY | Emesis bloody | HAEMATEMESIS | HEMATEMESIS | Haematemesis | Haematemesis (disorder) | Haematemesis/vomiting blood | Hematemeses | Hematemesis | Hematemesis (disorder) | Hematemesis [Disease/Finding] | Hematemesis/vomiting blood | VOMITING BLOOD | Vomiting blood | Vomiting of blood | Vomiting;blood | Vomitting blood | blood; vomiting | gastrointestinal disorder hematemesis | haematemesis | hematemesis | hematemesis (diagnosis) | hematemesis (symptom) | hematemesis was observed | hematemesis was observed (physical finding) | vomiting blood | vomiting blood (hematemesis) | vomiting of blood | vomiting out blood | vomiting; blood HPO2016_07_04:The vomiting of blood. [HPO:probinson] | MSH2017_2016_08_12:Vomiting of blood that is either fresh bright red, or older "coffee-ground" in character. It generally indicates bleeding of the UPPER GASTROINTESTINAL TRACT. | NCI2016_02D:Vomiting blood. HPO2016_07_04:HP:0002248|ICD10CM_2017:K92.0|ICD9CM_2014:578.0|MSH2017_2016_08_12:D006396|OMIM2016_04_17:MTHU037167|SNOMEDCT_US_2016_09_01:155838009|SNOMEDCT_US_2016_09_01:249498003|SNOMEDCT_US_2016_09_01:8765009 C4020898 Overactive bladder syndrome Overactive bladder syndrome HPO2016_07_04:HP:0000012 C0411268 Trichomoniasis, intestinal Intestinal infection by Trichomonas | Intestinal trichomoniasis | Intestinal trichomoniasis (disorder) | Trichomonas hominis infection | Trichomoniasis intestinal | Trichomoniasis, intestinal | intestinal trichomoniasis | intestinal trichomoniasis (diagnosis) | intestinal; trichomoniasis | trichomoniasis; intestinal ICD10CM_2017:A07.8|ICD9CM_2014:007.3|SNOMEDCT_US_2016_09_01:32298001|SNOMEDCT_US_2016_09_01:67915005 C1276064 Atopic dermatitis aggravated by type 1 immune reaction Atopic dermatitis aggravated by type 1 immune reaction | Atopic dermatitis aggravated by type 1 immune reaction (disorder) | Atopic eczema aggravated by type 1 immune reaction SNOMEDCT_US_2016_09_01:402188000 C1969220 Depletion of components of the alternative complement pathway Depletion of components of the alternative complement pathway HPO2016_07_04:HP:0005389|OMIM2016_04_17:MTHU020166 C3888007 Hermansky-pudlak syndrome 6 HERMANSKY-PUDLAK SYNDROME 6 | HPS6 OMIM2016_04_17:607522|OMIM2016_04_17:614075 C1848590 Vascular hyalinosis VASCULAR HYALINOSIS | Vascular Hyalinosis MSH2017_2016_08_12:C564750|OMIM2016_04_17:277175 C1168239 Asymmetric ears Asymmetric ears | Asymmetry of the ears HPO2016_07_04:An asymmetriy, i.e., difference in size, shape or position between the left and right ear. [HPO:probinson] HPO2016_07_04:HP:0010722|OMIM2016_04_17:MTHU002675 C1855845 Patchy osteosclerosis Patchy increase of bone mineral density | Patchy osteosclerosis | Uneven increase in bone density HPO2016_07_04:Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:curators] HPO2016_07_04:HP:0005686|OMIM2016_04_17:MTHU012219 C0027338 Biting nail Biting, Nail | Nail Biting | Nail biting | Nail biting (finding) | Nail-biting | Onychophagia | Onychophagy | biting nail | biting nails | demonstrated behavior mannerisms biting nails | demonstrates nail biting | demonstrates nail biting (physical finding) | nail bite | nail biting | nail biting (symptom) | nail biting was observed | nail-biting | onychophagia HPO2016_07_04:Habitual biting of one's own fingernails. [HPO:probinson] | MSH2017_2016_08_12:Common form of habitual body manipulation which is an expression of tension. | MSHNOR2016:Vanlig vanemessig manipulering av kroppen som er et uttrykk for spenning. HPO2016_07_04:HP:0012170|ICD10CM_2017:F98.8|MSH2017_2016_08_12:D009259|SNOMEDCT_US_2016_09_01:154941005|SNOMEDCT_US_2016_09_01:268780003|SNOMEDCT_US_2016_09_01:37298006 C0027830 Neurofibroma NEUROFIBROMA, BENIGN | Neurofibroma | Neurofibroma (WHO Grade I) | Neurofibroma (disorder) | Neurofibroma (morphologic abnormality) | Neurofibroma NOS | Neurofibroma [Disease/Finding] | Neurofibroma, NOS | Neurofibroma, no ICD-O subtype | Neurofibroma, no ICD-O subtype (morphologic abnormality) | Neurofibroma, no International Classification of Diseases for Oncology subtype | Neurofibroma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) | Neurofibromas | [M]Neurofibroma NOS | [M]Neurofibroma NOS (morphologic abnormality) | [M]Neurofibromas | neurofibroma | neurofibromas CSP2006:moderately firm, benign, encapsulated tumor resulting from proliferation of Schwann cells and fibroblasts that includes portions of nerve fibers; tumors usually develop along peripheral or cranial nerves and are a central feature of neurofibromatosis 1, where they may occur intracranially or involve spinal roots. pathologic features include fusiform enlargement of the involved nerve. | MSH2017_2016_08_12:A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016) | NCI2016_02D:An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors. | NCI2016_CDISC_1602D:An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths, composed of perineurial-like fibroblasts and Schwann cells. | NCI2016_NCI-GLOSS_1602D:A benign tumor that develops from the cells and tissues that cover nerves. MSH2017_2016_08_12:D009455|OMIM2016_04_17:MTHU014989|OMIM2016_04_17:MTHU036347|SNOMEDCT_US_2016_09_01:115242003|SNOMEDCT_US_2016_09_01:134214003|SNOMEDCT_US_2016_09_01:189947001|SNOMEDCT_US_2016_09_01:404029005|SNOMEDCT_US_2016_09_01:89084002 C0022354 Jaundice, obstructive CHOLESTATIC JAUNDICE | Cholestatic Jaundice | Cholestatic icterus | Cholestatic jaundice | Cholestatic jaundice syndrome | Cholestatic jaundice syndrome (disorder) | Cholestatic jaundice syndrome, NOS | Cholestatic jaundice, NOS | JAUNDICE CHOLESTATIC | JAUNDICE OBSTRUCTIVE | JAUNDICE, CHOLESTATIC | JAUNDICE, OBSTRUCTIVE | JAUNDICE, REGURGITATION | Jaundice cholestatic | Jaundice, Cholestatic | Jaundice, Mechanical | Jaundice, Obstructive | Jaundice, Obstructive [Disease/Finding] | Jaundice, obstructive | Jaundice;obstructive | Mechanical Jaundice | Obstructive Jaundice | Obstructive hyperbilirubinaemia | Obstructive hyperbilirubinemia | Obstructive hyperbilirubinemia (disorder) | Obstructive jaundice | Obstructive jaundice NOS | Obstructive jaundice NOS (disorder) | cholestatic icterus | cholestatic jaundice | jaundice cholestatic | jaundice obstructive | jaundice; obstructive | jaundice; regurgitation | obstructive jaundice | obstructive; jaundice | regurgitation; jaundice MSH2017_2016_08_12:Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS. | NCI2016_02D:A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system. MSH2017_2016_08_12:D041781|OMIM2016_04_17:MTHU023470|SNOMEDCT_US_2016_09_01:155832005|SNOMEDCT_US_2016_09_01:197452009|SNOMEDCT_US_2016_09_01:266545005|SNOMEDCT_US_2016_09_01:44018007|SNOMEDCT_US_2016_09_01:59848001 C1959632 Plasma cell neoplasm Neoplasm, Plasma Cell | Neoplasms, Plasma Cell | Neoplasms, Plasma Cell [Disease/Finding] | PLASMA CELL TUMOR, MALIGNANT | Plasma Cell Dyscrasia | Plasma Cell Neoplasm | Plasma Cell Neoplasms | Plasma Cell Tumor | Plasma cell neoplasm | Plasma cell neoplasm (disorder) | Plasma cell neoplasm (morphologic abnormality) | Plasma cell neoplasm (morphology) | Plasma cell neoplasms | Plasmacytic Neoplasm | Plasmacytic Tumor | Plasmacytic Tumour | plasma cell neoplasm | plasma cell tumor CSP2006:new abnormal plasma cells that grow by excessive cellular division and proliferation more rapidly than normal and continue to grow after the stimuli that initiated the new growth cease. | MSH2017_2016_08_12:Neoplasms associated with a proliferation of a single clone of PLASMA CELLS and characterized by the secretion of PARAPROTEINS. | NCI2016_02D:A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance. | NCI2016_CDISC_1602D:A malignant neoplasm composed of plasma cells. | NCI2016_NCI-GLOSS_1602D:A tumor that begins in plasma cells (white blood cells that produce antibodies). Multiple myeloma, monoclonal gammopathy of undetermined significance (MGUS), and plasmacytoma are types of plasma cell tumors. MSH2017_2016_08_12:D054219|SNOMEDCT_US_2016_09_01:127580003|SNOMEDCT_US_2016_09_01:415111003 C2752040 Hemolytic uremic syndrome, atypical, susceptibility to, 2 AHUS, SUSCEPTIBILITY TO, 2 | AHUS2 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 OMIM2016_04_17:120920|OMIM2016_04_17:612922 C0345408 Hereditary clubbing ACROPACHY, HEREDITARY | Acropachies, Hereditary | Acropachy | Acropachy, Hereditary | CLUBBING OF DIGITS | Clubbing of Digits | DIGITAL CLUBBING, ISOLATED CONGENITAL | Digital Clubbing, Isolated Congenital | Hereditary Acropachies | Hereditary Acropachy | Hereditary acropachy | Hereditary clubbing | Hereditary clubbing (disorder) | Hippocratic fingers | acropachy | hereditary clubbing MSH2017_2016_08_12:D010004|OMIM2016_04_17:119900|OMIM2016_04_17:601688|SNOMEDCT_US_2016_09_01:239055005 C0019077 Hemopneumothorax HEMOPNEUMOTHORAX | Haemopneumothorax | Hemopneumothorax | Hemopneumothorax (disorder) | Hemopneumothorax [Disease/Finding] | Pneumohaemothorax | Pneumohemothorax | haemopneumothorax | hemopneumothorax | pneumohemothorax | pneumohemothorax (diagnosis) MSH2017_2016_08_12:Collection of air and blood in the pleural cavity. ICD10CM_2017:J94.2|MSH2017_2016_08_12:D006468|OMIM2016_04_17:MTHU038542|SNOMEDCT_US_2016_09_01:16632002 C1867487 Short-limb dwarfism identifiable during childhood Childhood onset short-limb short stature | Short-limb dwarfism identifiable during childhood HPO2016_07_04:HP:0011405|OMIM2016_04_17:MTHU015874 C0152095 Patau syndrome 13 trisomies | 13 trisomy | Bartholin-Patau syndrome | Chromosomal imbalance syndrome, pair 13, trisomy | Chromosome 13 trisomy | Chromosome 13 trisomy syndrome | Complete Trisomy 13 Syndrome | Complete trisomy 13 syndrome | Complete trisomy 13 syndrome (disorder) | D1 Trisomy | D1 trisomy syndrome | D1 trisomy syndrome | D>1< trisomy syndrome | Patau | Patau Syndrome | Patau syndrome | Patau's Syndrome | Patau's syndrome | Patau's syndrome NOS | Patau's syndrome NOS (disorder) | Patau's syndrome, unspecified | Trisomy 13 | Trisomy 13 NOS | Trisomy 13 syndrome | Trisomy 13, unspecified | chromosome 13 trisomy syndrome | chromosome; 13, trisomy | patau syndrome | patau's syndrome | syndrome patau | syndrome; trisomy, 13 | trisomy 13 | trisomy 13 (diagnosis) | trisomy 13 syndrome | trisomy syndrome 13 | trisomy; 13 | trisomy; syndrome, 13 JABL99:The presence of an additional (third) chromosome on an otherwise diploid chromosome 13 with variable abnormalities, most characteristic of which are microcephaly, microphthalmia, hypertelorism, cleft lip or palate, polydactyly, and cardiovascular, genitourinary, and neurological abnormalities. It is one of the most frequent causes of perinatal deaths. | NCI2016_02D:A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities. ICD10CM_2017:Q91.7|ICD9CM_2014:758.1|MSH2017_2016_08_12:C536305|SNOMEDCT_US_2016_09_01:156995003|SNOMEDCT_US_2016_09_01:157021007|SNOMEDCT_US_2016_09_01:205622008|SNOMEDCT_US_2016_09_01:21111006|SNOMEDCT_US_2016_09_01:254267009|SNOMEDCT_US_2016_09_01:268344000|SNOMEDCT_US_2016_09_01:268357008 C0158328 Trigger finger Digit, Trigger | Digits, Trigger | Entrapment, Flexor Tendon | Entrapments, Flexor Tendon | Finger snapping | Finger, Snapping | Fingers, Snapping | Flexor Tendon Entrapment | Flexor Tendon Entrapments | Snapping Finger | Snapping Fingers | Snapping finger | TRIGGER FINGER | Tendon Entrapment, Flexor | Tendon Entrapments, Flexor | Trigger Digit | Trigger Digits | Trigger Finger Disorder | Trigger Finger Disorder [Disease/Finding] | Trigger finger | Trigger finger (disorder) | finger trigger | finger triggered | finger; snapping | fingers trigger | snap finger | snapping finger | snapping; finger | trigger finger | trigger finger (physical finding) MSH2017_2016_08_12:A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58). | NCI2016_02D:A painful hand deformity affecting the fingers. It is due to damage of the finger flexor tendons, causing the finger to remain in a locked position. ICD10CM_2017:M65.3|MSH2017_2016_08_12:D052582|SNOMEDCT_US_2016_09_01:156671002|SNOMEDCT_US_2016_09_01:268095007|SNOMEDCT_US_2016_09_01:448251000124102 C0013911 Emaciation EMACIATION | Emaciated | Emaciated (disorder) | Emaciated (finding) | Emaciated build | Emaciation | Emaciation [Disease/Finding] | Emaciation, NOS | Emaciations | emaciate | emaciated | emaciation MSH2017_2016_08_12:Clinical manifestation of excessive LEANNESS usually caused by disease or a lack of nutrition (MALNUTRITION). MSH2017_2016_08_12:D004614|SNOMEDCT_US_2016_09_01:371597004|SNOMEDCT_US_2016_09_01:86475008 C1704321 Nephrotic syndrome, minimal change Idiopathic nephrotic syndrome | MCNS - Minimal change nephrotic syndrome | Minimal Change Nephrotic Syndrome | Minimal change nephrotic syndrome | Nephrotic Syndrome with Lesion of Minimal Change Glomerulonephritis | Nephrotic Syndrome, Minimal Change | Nephrotic syndrome with lesion of minimal change glomerular disease | Nephrotic syndrome with lesion of minimal change glomerulitis | Nephrotic syndrome with lesion of minimal change glomerulonephritis | Nephrotic syndrome with lesion of minimal change nephrotic syndrome | idiopathic nephrotic syndrome NCI2016_02D:A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the glomerular capillaries and the effacement of the surrounding epithelial cell foot processes worsening protein leakage. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure. ICD9CM_2014:581.3|MSH2017_2016_08_12:D009402|SNOMEDCT_US_2016_09_01:44785005 C1301937 Talipes TALIPES | Talipedes | Talipes | Talipes (disorder) | Talipes, NOS | Talipes, unspecified | Talipes, unspecified (disorder) | feet talipes | talipes | talipes (physical finding) HPO2016_07_04:A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. [HPO:sdoelken] | MSH2017_2016_08_12:Deformity in which the foot is misaligned with respect to the TALUS in the ANKLE JOINT. While mostly congenital, as in CLUBFOOT, acquired deformities are included. Acquired talipedes are often associated with other foot deformities such as SYNDACTYLY and POLYDACTYLY. HPO2016_07_04:HP:0001883|ICD9CM_2014:754.70|MSH2017_2016_08_12:D000070558|OMIM2016_04_17:MTHU011732|SNOMEDCT_US_2016_09_01:15169008|SNOMEDCT_US_2016_09_01:205089003|SNOMEDCT_US_2016_09_01:268247009|SNOMEDCT_US_2016_09_01:33163000|SNOMEDCT_US_2016_09_01:398309008 C1112256 Peripheral sensorimotor neuropathy Mixed polyneuropathy | Peripheral sensorimotor neuropathy | Sensorimotor neuropathy | Sensorimotor peripheral neuropathy HPO2016_07_04:HP:0007141|OMIM2016_04_17:MTHU020668|OMIM2016_04_17:MTHU025809|OMIM2016_04_17:MTHU035590 C2931282 Skeletal dysplasia, san diego type Skeletal dysplasia, San Diego type MSH2017_2016_08_12:C536670 C0151744 Myocardial ischemia Cardiac ischaemia | Cardiac ischemia | Disease, Ischemic Heart | Disease;ischaemic heart | Diseases, Ischemic Heart | HEART, ISCHEMIC DISEASE | Heart Disease, Ischemic | Heart Diseases, Ischemic | IHD | IHD - Ischaemic heart disease | IHD - Ischemic heart disease | ISCHEMIA MYOCARDIAL | ISCHEMIC HEART DISEASE | ISCHEMIC HEART DISEASES | Ischaemia myocardial | Ischaemic heart disease | Ischaemic heart disease (disorder) | Ischaemic heart disease NOS | Ischaemic heart disease NOS (disorder) | Ischaemic heart disease, NOS | Ischaemic heart diseases | Ischemia myocardial | Ischemia, Myocardial | Ischemias, Myocardial | Ischemic Heart Disease | Ischemic Heart Diseases | Ischemic Heart Diseases and Syndromes | Ischemic heart disease | Ischemic heart disease (disorder) | Ischemic heart disease NOS | Ischemic heart disease NOS (disorder) | Ischemic heart disease or syndrome | Ischemic heart disease, NOS | Ischemic heart diseases | Ischemic heart diseases (I20-I25) | MYOCARDIAL ISCHAEMIA | MYOCARDIAL ISCHEMIA | Myocardial Ischemia | Myocardial Ischemia [Disease/Finding] | Myocardial Ischemias | Myocardial ischaemia | Myocardial ischaemia (disorder) | Myocardial ischaemia, NOS | Myocardial ischemia | Myocardial ischemia (disorder) | Myocardial ischemia, NOS | cardiac ischaemia | cardiac ischemia | ihd | ischaemic heart disease | ischemia; heart | ischemia; myocardial | ischemic heart disease | ischemic heart disease (diagnosis) | myocardial ischaemia | myocardial ischemia | myocardial ischemia (diagnosis) | myocardial ischemia/hypoxia | myocardium; ischemic CSP2006:blood deficiency in the myocardium caused by a constriction or obstruction of its blood vessels; frequently occurs in conjunction with hypoxia, which is reduction in oxygen supply. | MSH2017_2016_08_12:A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION). | NCI2016_02D:A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries, to obstruction by a thrombus, or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction). ICD10CM_2017:I20-I25|ICD9CM_2014:410-414.99|MSH2017_2016_08_12:D017202|OMIM2016_04_17:MTHU037875|OMIM2016_04_17:MTHU038308|SNOMEDCT_US_2016_09_01:155303000|SNOMEDCT_US_2016_09_01:155322009|SNOMEDCT_US_2016_09_01:194795001|SNOMEDCT_US_2016_09_01:194878003|SNOMEDCT_US_2016_09_01:195540001|SNOMEDCT_US_2016_09_01:233822007|SNOMEDCT_US_2016_09_01:2610009|SNOMEDCT_US_2016_09_01:271430002|SNOMEDCT_US_2016_09_01:32598000|SNOMEDCT_US_2016_09_01:414545008|SNOMEDCT_US_2016_09_01:414795007|SNOMEDCT_US_2016_09_01:41702007 C0002894 Refractory anaemia with excess blasts Anemia, Refractory, with Excess of Blasts | Anemia, Refractory, with Excess of Blasts [Disease/Finding] | Leukemia, Smoldering | Leukemia, Smouldering | Leukemias, Smoldering | RAEB | RAEB - Refractory anaemia with excess blasts | RAEB - Refractory anaemia with excess of blasts | RAEB - Refractory anemia with excess blasts | RAEB - Refractory anemia with excess of blasts | RAEB NOS | RAEB-Refrac anaem+exces blasts | RAEM | Refr anaem with excess blasts | Refractory Anemia with Excess Blasts | Refractory Anemia with Excess of Blasts | Refractory Anemia with an Excess of Blasts | Refractory anaemia with an excess of blasts | Refractory anaemia with excess blasts | Refractory anaemia with excess blasts (clinical) | Refractory anaemia with excess of blasts | Refractory anaemia with excess of blasts -RETIRED- | Refractory anemia with an excess of blasts | Refractory anemia with excess blasts | Refractory anemia with excess blasts (RAEB) | Refractory anemia with excess blasts (clinical) | Refractory anemia with excess blasts (disorder) | Refractory anemia with excess blasts (morphologic abnormality) | Refractory anemia with excess of blasts | Refractory anemia with excess of blasts (disorder) | Refractory anemia with excess of blasts (morphologic abnormality) | Refractory anemia with excess of blasts -RETIRED- | Refractory anemia with excess of blasts [RAEB] | Refractory anemia with excess of blasts, unspecified | Smoldering Leukemia | Smoldering Leukemias | Smouldering Leukemia | Smouldering leukaemia | Smouldering leukemia | [M] Refractory anaemia with excess of blasts | [M] Refractory anemia with excess of blasts | [M]Refractory anaemia with excess of blasts | [M]Refractory anemia with excess of blasts | anemia refractory with excess blasts | anemia; refractory, with excess of blasts [RAEB] | raeb | refractory anemia with excess blasts | refractory anemia with excess blasts (RAEB) | refractory anemia with excess blasts (diagnosis) | refractory; anemia, with excess of blasts [RAEB] | smoldering leukemia MSH2017_2016_08_12:Chronic refractory anemia with granulocytopenia, and/or thrombocytopenia. Myeloblasts and progranulocytes constitute 5 to 40 percent of the nucleated marrow cells. | NCI2016_02D:A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: RAEB-1 and RAEB-2. Cases with significant bone marrow reticulin fibrosis are called RAEB with fibrosis. ICD10CM_2017:D46.2|ICD10CM_2017:D46.20|MSH2017_2016_08_12:D000754|SNOMEDCT_US_2016_09_01:109999001|SNOMEDCT_US_2016_09_01:128847002|SNOMEDCT_US_2016_09_01:16956001|SNOMEDCT_US_2016_09_01:189511007|SNOMEDCT_US_2016_09_01:398623004 C0392708 Ineffective erythropoiesis Defective erythropoiesis | Ineffective erythropoiesis | Ineffective erythropoiesis (finding) SCTSPA_2016_04_30:Destrucci贸n aumentada de precursores eritroc铆ticos | SNOMEDCT_US_2016_09_01:Increased destruction of erythrocyte precursors HPO2016_07_04:HP:0010972|OMIM2016_04_17:MTHU024108|SNOMEDCT_US_2016_09_01:70730006 C0029878 Otitis externa Externa, Otitis | External Ear Inflammation | External Otitides | External Otitis | External ear inflammation | Inflammation ear external | Inflammation external ear &/or otitis externa NOS | Inflammation external ear &/or otitis externa NOS (disorder) | Inflammation of External Auditory Canal | Inflammation of the External Auditory Canal | OE - Otitis externa | OTITIS EXTERNA | Otitides, External | Otitis Externa | Otitis Externa [Disease/Finding] | Otitis externa | Otitis externa (disorder) | Otitis externa NOS | Otitis externa NOS (disorder) | Otitis externa, NOS | Otitis externa, unspecified | Otitis external | Otitis, External | Unspecified otitis externa | Unspecified otitis externa, unspecified ear | ear; inflammation, external | externa otitis | externa; otitis | external auditory canal; inflammation | external ear inflammation (physical finding) | external otitis | inflammation; ear, external | inflammation; external auditory canal | otitis externa | otitis externa (diagnosis) | otitis external | otitis; externa MSH2017_2016_08_12:Inflammation of the OUTER EAR including the external EAR CANAL, cartilages of the auricle (EAR CARTILAGE), and the TYMPANIC MEMBRANE. | NCI2016_02D:Inflammation of the anatomical structures of the outer ear and ear canal, which is most often caused by an infectious process. Symptoms include erythema, edema, and pain. | NCI2016_CTCAE_1602D:A disorder characterized by inflammation, swelling and redness to the outer ear and ear canal. | NCI2016_NICHD_1602D:Inflammation of the outer ear and/or ear canal. ICD10CM_2017:H60|ICD10CM_2017:H60.9|ICD10CM_2017:H60.90|MSH2017_2016_08_12:D010032|SNOMEDCT_US_2016_09_01:155209003|SNOMEDCT_US_2016_09_01:155215003|SNOMEDCT_US_2016_09_01:194224008|SNOMEDCT_US_2016_09_01:267667005|SNOMEDCT_US_2016_09_01:267751009|SNOMEDCT_US_2016_09_01:3135009 C0037646 Psychiatric somatic therapy Psychiatric Somatic Therapies | Psychiatric Somatic Therapy | Psychiatric somatotherapy | Psychiatric somatotherapy (procedure) | Psychiatric somatotherapy, NOS | Somatic Therapies, Psychiatric | Somatic Therapy, Psychiatric | Therapies, Psychiatric Somatic | Therapy, Psychiatric Somatic | psychiatric somatic therapy MSH2017_2016_08_12:The biologic treatment of mental disorders (e.g., ELECTROCONVULSIVE THERAPY), in contrast with psychotherapy. (Stone, American Psychiatric Glossary, 1988, p159) ICD9CM_2014:94.2|MSH2017_2016_08_12:D013000|SNOMEDCT_US_2016_09_01:89560003 C0395947 Autoimmune disorder ear inner Autoimmune disorder of inner ear | Autoimmune disorder of inner ear (disorder) | Autoimmune labyrinthitis | autoimmune disorder ear inner | autoimmune disorder of inner ear | autoimmune inner ear disorder SNOMEDCT_US_2016_09_01:232308006 C0349702 Corneal scar CICATRIX CORNEAL | CORNEAL SCARRING | Cicatrix corneal | Corneal Scar | Corneal Scars | Corneal scar | Corneal scar (disorder) | Corneal scar NOS | Corneal scar, NOS | Corneal scarring | SCAR CORNEAL | Scar corneal | Scar, Corneal | Scars, Corneal | cornea; cicatrix | cornea; scar | corneal cicatrix | corneal scar | corneal scar (diagnosis) | corneal scarred | corneal scarring | corneal scars | scar; cornea HPO2016_07_04:HP:0000559|MSH2017_2016_08_12:D065306|OMIM2016_04_17:MTHU010011|SNOMEDCT_US_2016_09_01:64634000|SNOMEDCT_US_2016_09_01:95726001 C0700095 Central neuroblastoma Central neuroblastoma | NB - Neuroblastoma | Neuroblastoma | central neuroblastoma | neuroblastoma SNOMEDCT_US_2016_09_01:87364003 C4024927 Peripheral hypomyelination Peripheral hypomyelination HPO2016_07_04:Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system. [HPO:probinson] HPO2016_07_04:HP:0007182 C3899662 Childhood fibrillary astrocytoma Childhood Fibrillary Astrocytoma NCI2016_02D:A fibrillary astrocytoma that occurs during childhood. C4025635 Argininuria Argininuria | High urine arginine levels HPO2016_07_04:A increased concentration of arginine in the urine. [HPO:probinson, pmid:18901181, pmid:20240447] HPO2016_07_04:HP:0003268 C1850544 Hypernatremic dehydration Hypernatremic Dehydration | Hypernatremic dehydration | Hypernatremic dehydration (disorder) NCI2016_02D:Dehydration resulting from abnormally high levels of sodium in the blood. Infants and individuals that are intubated are at highest risk. HPO2016_07_04:HP:0004906|OMIM2016_04_17:MTHU010709|SNOMEDCT_US_2016_09_01:427784006 C0034362 Q fever Abattoir fever | BALKAN GRIPPE | BRONCHOPNEUMONIA, HIBERNO-VERNAL | Balkan grippe | Balkan influenza | Balkan; influenza | Coxiella burnetii Fever | Coxiella burnetii Fevers | Coxiella burnetii infection | Coxiella burnetii; infection | DERRICK-BURNET DISEASE | FEVER, NINE MILE | Fever, Coxiella burnetii | Fever, Q | Fever, Query | Fevers, Coxiella burnetii | Fevers, Q | Fevers, Query | Infection due to Coxiella burnetii | Infection due to Coxiella burnetii (disorder) | Nine Mile fever | Nine-mile fever | Q FEVER | Q Fever | Q Fever [Disease/Finding] | Q Fevers | Q fever | Q fever (disorder) | Q fever (disorder) [Ambiguous] | Q-fever | Q-fever (diagnosis) | Q; fever | Query Fever | Query Fevers | Query fever | fever q | fever query | fever; Q | fever; nine Mile | infection; Coxiella burnetii | influenza; Balkan | nine Mile; fever | q fever | q-fever | query fever CSP2006:acute infectious disease caused by Coxiella burnetii; characterized by a sudden onset of fever,headache, malaise, and weakness; in humans, it is commonly contracted by inhalation of infected dusts derived from infected domestic animals. | MSH2017_2016_08_12:An acute infectious disease caused by COXIELLA BURNETII. It is characterized by a sudden onset of FEVER; HEADACHE; malaise; and weakness. In humans, it is commonly contracted by inhalation of infected dusts derived from infected domestic animals (ANIMALS, DOMESTIC). | NCI2016_02D:A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness. ICD10CM_2017:A78|ICD9CM_2014:083.0|MSH2017_2016_08_12:D011778|SNOMEDCT_US_2016_09_01:154375001|SNOMEDCT_US_2016_09_01:186788009|SNOMEDCT_US_2016_09_01:260588007|SNOMEDCT_US_2016_09_01:266205000|SNOMEDCT_US_2016_09_01:86012006 C1290344 Nonspecific interstitial pneumonia NSIP | Nonspecific Interstitial Pneumonia | Nonspecific interstitial pneumonia | Nonspecific interstitial pneumonia (disorder) | interstitial pneumonia nonspecific | interstitial pneumonia nonspecific (diagnosis) NCI2016_02D:Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia. SNOMEDCT_US_2016_09_01:129452008 C1843632 Leprosy, susceptibility to, 2 LEPROSY, SUSCEPTIBILITY TO, 2 | LPRS2 OMIM2016_04_17:607572 C1334614 Prolactin-producing pituitary gland carcinoma Malignant Pituitary Gland Prolactinoma | Malignant Pituitary Prolactinoma | Malignant Prolactin Producing Neoplasm of Pituitary | Malignant Prolactin Producing Neoplasm of Pituitary Gland | Malignant Prolactin Producing Neoplasm of the Pituitary | Malignant Prolactin Producing Neoplasm of the Pituitary Gland | Malignant Prolactin Producing Pituitary Gland Neoplasm | Malignant Prolactin Producing Pituitary Gland Tumor | Malignant Prolactin Producing Pituitary Neoplasm | Malignant Prolactin Producing Pituitary Tumor | Malignant Prolactin Producing Tumor | Malignant Prolactin Producing Tumor of Pituitary | Malignant Prolactin Producing Tumor of Pituitary Gland | Malignant Prolactin Producing Tumor of the Pituitary | Malignant Prolactin Producing Tumor of the Pituitary Gland | Malignant Prolactin Secreting Neoplasm of Pituitary | Malignant Prolactin Secreting Neoplasm of Pituitary Gland | Malignant Prolactin Secreting Neoplasm of the Pituitary | Malignant Prolactin Secreting Neoplasm of the Pituitary Gland | Malignant Prolactin Secreting Pituitary Gland Neoplasm | Malignant Prolactin Secreting Pituitary Gland Tumor | Malignant Prolactin Secreting Pituitary Neoplasm | Malignant Prolactin Secreting Pituitary Tumor | Malignant Prolactin Secreting Tumor of Pituitary | Malignant Prolactin Secreting Tumor of Pituitary Gland | Malignant Prolactin Secreting Tumor of the Pituitary | Malignant Prolactin Secreting Tumor of the Pituitary Gland | Malignant Prolactinoma | Malignant Prolactinoma of Pituitary | Malignant Prolactinoma of Pituitary Gland | Malignant Prolactinoma of the Pituitary | Malignant Prolactinoma of the Pituitary Gland | PRL Producing Pituitary Gland Carcinoma | Prolactin Producing Pituitary Gland Carcinoma | Prolactin-Producing Pituitary Gland Carcinoma NCI2016_02D:A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin. C1833219 Charcot-marie-tooth disease, axonal, type 2b (disorder) Autosomal dominant Charcot-Marie-Tooth disease type 2B | Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder) | CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2B | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) | CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B | CMT 2B | CMT2B | Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2B | Charcot-Marie-Tooth Neuropathy, Type 2B | Charcot-Marie-Tooth disease Type 2B | Charcot-Marie-Tooth disease Type 2B (diagnosis) | Charcot-Marie-Tooth disease, Type 2B | Charcot-Marie-Tooth disease, axonal, Type 2B | Charcot-Marie-Tooth disease, neuronal, Type 2B | HEREDITARY MOTOR AND SENSORY NEUROPATHY IIB | HMSN IIB | HMSN2B | Hereditary Motor And Sensory Neuropathy IIB | Hereditary motor and sensory neuropathy 2 B (HMSN 2 B) | Peripheral sensory neuropathy, autosomal dominant (PSN) SNOMEDCT_US_2016_09_01:A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood. MSH2017_2016_08_12:C537989|OMIM2016_04_17:600882|OMIM2016_04_17:602298|SNOMEDCT_US_2016_09_01:717008005 C0269174 Fallopian tube; polyp Polyp of fallopian tube | Polyp of fallopian tube (disorder) | fallopian tube; polyp | oviduct; polyp | polyp of fallopian tube | polyp of fallopian tube (diagnosis) | polyp; fallopian tube | polyp; oviduct SNOMEDCT_US_2016_09_01:45823004 C1868678 Thanatophoric dysplasia, type i (disorder) LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE | Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type | PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE | Platyspondylic Lethal Skeletal Dysplasia, San Diego Type | TD | TD1 | THANATOPHORIC DWARFISM | THANATOPHORIC DYSPLASIA | THANATOPHORIC DYSPLASIA, TYPE I | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | Thanatophoric Dysplasia, Type I MSH2017_2016_08_12:C566844|OMIM2016_04_17:134934|OMIM2016_04_17:187600 C0153458 Pancreas head cancer malignant Ca head of pancreas | Ca head of pancreas (disorder) | Cancer of head of pancreas | Malignant neoplasm of head of pancreas | Malignant tumor of head of pancreas | Malignant tumor of head of pancreas (disorder) | Malignant tumour of head of pancreas | PANCREAS HEAD CANCER MALIGNANT | malignant neoplasm of head of pancreas | malignant neoplasm of head of pancreas (diagnosis) | pancreatic neoplasm malignant head ICD10CM_2017:C25.0|ICD9CM_2014:157.0|SNOMEDCT_US_2016_09_01:154476001|SNOMEDCT_US_2016_09_01:269553001|SNOMEDCT_US_2016_09_01:363419009|SNOMEDCT_US_2016_09_01:93823001 C0023788 Whipple disease Disease, Whipple | Disease, Whipple's | GRANULOMATOSIS, LIPOPHAGIC, INTESTINAL | INTESTINAL LIPODYSTROPHY | Intestinal Lipodystrophy | Intestinal Whipple's disease | Intestinal lipodystrophy | LIPODYSTROPHY, INTESTINAL | Lipodystrophy, Intestinal | SPRUE, NONTROPICAL, SECONDARY | WD - Whipple's disease | WHIPPLES DISEASE | Whipple Disease | Whipple Disease [Disease/Finding] | Whipple disease | Whipple's Disease | Whipple's disease | Whipple's disease (diagnosis) | Whipple's disease (disorder) | Whipples Disease | Whipples disease | disease whipple | disease whipple's | intestinal lipodystrophy | intestinal; lipodystrophy | lipodystrophy; intestinal | whipple disease | whipple's disease | whipples disease MSH2017_2016_08_12:A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS. | NCI2016_02D:A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system. ICD10CM_2017:K90.81|ICD9CM_2014:040.2|MSH2017_2016_08_12:D008061|SNOMEDCT_US_2016_09_01:41545003 C0157143 Oligohydramnios, antepartum condition or complication Oligohydramnios, antepartum | Oligohydramnios, antepartum condition or complication ICD9CM_2014:658.03 C1836076 Amyotrophic lateral sclerosis, chmp2b-related ALS17 | ALS17 (diagnosis) | AMYOTROPHIC LATERAL SCLEROSIS 17 | AMYOTROPHIC LATERAL SCLEROSIS, CHMP2B-RELATED | Amyotrophic Lateral Sclerosis, Chmp2B-Related | amyotrophic lateral sclerosis als17 MSH2017_2016_08_12:C563708|OMIM2016_04_17:609512|OMIM2016_04_17:614696 C0234000 Circumstantial infidelity Circumstantial infidelity | Circumstantial infidelity (finding) SNOMEDCT_US_2016_09_01:84403003 C0263523 Micronychia (disorder) Claw small | Hypoplastic nail | Hypoplastic nails | Micronychia | Micronychia (disorder) | Micronychia, NOS | NAIL HYPOPLASIA | Nail hypoplasia | Nail small | Small nail | Small nails | Ungual hypoplasia | hypoplasia of nails | hypoplasia of nails (physical finding) | hypoplasia; nail | nail; hypoplasia HPO2016_07_04:A nail that is diminished in length and width, i.e., underdeveloped nail. [HPO:probinson, pmid:19125433] HPO2016_07_04:HP:0001792|OMIM2016_04_17:MTHU000569|OMIM2016_04_17:MTHU003747|OMIM2016_04_17:MTHU012780|OMIM2016_04_17:MTHU024724|OMIM2016_04_17:MTHU040638|SNOMEDCT_US_2016_09_01:11375002 C0043264 Wrist injury Injuries, Wrist | Injury of wrist | Injury of wrist (disorder) | Injury, Wrist | Injury;wrist | Unspecified injury of wrist | Unspecified injury of wrist (disorder) | WRIST INJURY | Wrist Injuries | Wrist Injuries [Disease/Finding] | Wrist Injuries and Disorders | Wrist Injury | Wrist injury | Wrist injury (disorder) | injuries wrist | injury of wrist | injury of wrist (diagnosis) | injury wrist | injury; wrist | wound; wrist | wrist injuries | wrist injury | wrist; injury | wrist; wound MEDLINEPLUS_20151021:Your wrist is made up of eight small bones known as carpals. They support a tube that runs through your wrist. That tube, called the carpal tunnel, has tendons and a nerve inside. It is covered by a ligament, which holds it in place.
Wrist pain is common. Repetitive motion can damage your wrist. Everyday activities like typing, racquet sports or sewing can cause pain, or even carpal tunnel syndrome. Wrist pain with bruising and swelling can be a sign of injury. The signs of a possible fracture include misshapen joints and inability to move your wrist. Some wrist fractures are a result of osteoporosis.
Other common causes of pain are
| MSH2017_2016_08_12:Injuries to the wrist or the wrist joint. MSH2017_2016_08_12:D014954|SNOMEDCT_US_2016_09_01:125598003|SNOMEDCT_US_2016_09_01:212427008|SNOMEDCT_US_2016_09_01:309771003|SNOMEDCT_US_2016_09_01:393614004 C1854838 Progressive neurologic deterioration Neurodegeneration, progressive | Neurologic deterioration | Neurologic deterioration, progressive | Progressive mental deterioration | Progressive neurodegeneration | Progressive neurologic deterioration HPO2016_07_04:HP:0002344|OMIM2016_04_17:MTHU002586|OMIM2016_04_17:MTHU008286|OMIM2016_04_17:MTHU010928|OMIM2016_04_17:MTHU011232|OMIM2016_04_17:MTHU042211|OMIM2016_04_17:MTHU042783 C0029307 Oroya fever Carrion's disease | Cat Scratch Fever | Cat Scratch Fevers | Cat scratch fever | Fever, Cat Scratch | Fever, Oroya | Fevers, Cat Scratch | Infection by Bartonella bacilliformis | Infection by Bartonella bacilliformis (disorder) | Infection caused by Bartonella bacilliformis | Infection caused by Bartonella bacilliformis (disorder) | Oroya Fever | Oroya fever | Oroya fever (diagnosis) | Oroya fever (disorder) | Oroya; fever | Scratch Fever, Cat | Scratch Fevers, Cat | fever; Oroya ICD10CM_2017:A44.0|MSH2017_2016_08_12:D001474|SNOMEDCT_US_2016_09_01:17116008|SNOMEDCT_US_2016_09_01:186824002|SNOMEDCT_US_2016_09_01:240453002|SNOMEDCT_US_2016_09_01:262461007 C4023171 Horizontal groove on chin Chin with horizontal crease | Chin with horizontal furrow | Chin with horizontal groove | Chin with horizontal sulcus | Horizontal chin skin cleft | Horizontal groove on chin | Horizontal menton crease HPO2016_07_04:Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest. [pmid:19125436] HPO2016_07_04:HP:0011823|OMIM2016_04_17:MTHU015207 C3280970 Porencephaly 2 POREN2 | PORENCEPHALY 2 OMIM2016_04_17:120090|OMIM2016_04_17:614483 C4025010 Coat hanger sign of ribs Coat hanger sign of ribs HPO2016_07_04:An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger). [HPO:probinson, pmid:12712270, pmid:21607596] HPO2016_07_04:HP:0006665 C1835389 Increased intramuscular fat Increased intramuscular fat HPO2016_07_04:An abnormal increase in the amount of intramuscular fat tissue. [HPO:curators] HPO2016_07_04:HP:0008985|OMIM2016_04_17:MTHU017406 C1112459 Non-resectable hepatocellular carcinoma Hepatocellular carcinoma non-resectable | Liver cell carcinoma non-resectable | Non-Resectable Hepatocellular Carcinoma NCI2016_02D:A hepatocellular carcinoma that is not amenable to surgical resection. C0152054 Therapeutic touch Healing Touch | Therapeutic Touch | Therapeutic tactile stimulation | Therapeutic touch | Therapeutic touch (regime/therapy) | Therapeutic touch each 15 minutes | Theraputic touch | Theraputic touch (regime/therapy) | Touch | Touch (regime/therapy) | Touch, Therapeutic | healing touch | therapeutic touch | touch healing ALT2009:Directing an intentional process of energy exchange with a client to facilitate and/or promote his or her healing process. Any practitioner using this code must document appropriate training and/or certification. Service is billed in 15-minute increments. | MSH2017_2016_08_12:Placing of the hands of the healer upon the person to be cured with the intent of spiritual energetic healing. | NCI2016_02D:An energy (biofield) therapy that encompasses a group of non-invasive techniques that utilize the hands to clear, energize, and balance the human and environmental energy fields. Healing Touch interventions may be used to restore, energize, and balance an energy field disturbance. (HTA) | NCI2016_NCI-GLOSS_1602D:A form of complementary and alternative medicine based on the belief that vital energy flows through the human body. This energy is said to be balanced or made stronger by practitioners who pass their hands over, or gently touch, a patient's body. Healing touch is being studied in patients receiving cancer therapy, to find out if it can improve quality of life, boost the immune system, or reduce side effects. Healing touch is a type of energy therapy. | NIC2005:Attuning to the universal healing field, seeking to act as an instrument for healing influence, and using the natural sensitivity of the hands to gently focus and direct the intervention process | NIC2005:Providing comfort and communication through purposeful tactile contact MSH2017_2016_08_12:D019124|SNOMEDCT_US_2016_09_01:386475005|SNOMEDCT_US_2016_09_01:386476006 C1622345 Meretoja syndrome AMYLOID CRANIAL NEUROPATHY WITH LATTICE CORNEAL DYSTROPHY | AMYLOIDOSIS DUE TO MUTANT GELSOLIN | AMYLOIDOSIS V | AMYLOIDOSIS, FINNISH TYPE | AMYLOIDOSIS, MERETOJA TYPE | Amyloid cranial neuropathy with lattice corneal dystrophy | Amyloidosis 5 | Amyloidosis V | Amyloidosis due to mutant gelsolin | Amyloidosis, Finnish Type | Amyloidosis, Meretoja Type | Finnish type amyloidosis | Lattice corneal dystrophy associated with familial systemic amyloidosis | Lattice dystrophy of the cornea with hereditary generalized amyloidosis | Meretoja syndrome | Meretoja syndrome (disorder) | Meretoja type amyloidosis | Meretoja's syndrome MSH2017_2016_08_12:C537459|OMIM2016_04_17:105120|OMIM2016_04_17:137350|SNOMEDCT_US_2016_09_01:1192004|SNOMEDCT_US_2016_09_01:361199007|SNOMEDCT_US_2016_09_01:419398009|SNOMEDCT_US_2016_09_01:71041007 C3281236 Dystonia 21 DYSTONIA 21 | DYT21 OMIM2016_04_17:614588 C0340375 Subaortic stenosis Aortic Stenoses, Subvalvular | Aortic Stenosis, Subvalvular | Aortic Stenosis, Subvalvular [Disease/Finding] | Aortic Subvalvular Stenoses | Aortic Subvalvular Stenosis | Stenoses, Aortic Subvalvular | Stenoses, Subvalvular Aortic | Stenosis, Aortic Subvalvular | Stenosis, Subvalvular Aortic | Subaortic stenosis | Subaortic stenosis (disorder) | Subvalvar stenosis | Subvalvular Aortic Stenoses | Subvalvular Aortic Stenosis | Subvalvular Stenoses, Aortic | Subvalvular Stenosis, Aortic | Subvalvular aorta constricted | Subvalvular aortic stenosis | Subvalvular stenosis | stenosis; subaortic | subaortic stenosis | subaortic; stenosis | subvalvular stenosis HPO2016_07_04:A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. [HPO:probinson] | MSH2017_2016_08_12:A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. | NCI2016_02D:An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects. HPO2016_07_04:HP:0001682|MSH2017_2016_08_12:D001020|OMIM2016_04_17:MTHU017461|OMIM2016_04_17:MTHU034038|SNOMEDCT_US_2016_09_01:204368006|SNOMEDCT_US_2016_09_01:250915007 C1846816 Congenital disorder of glycosylation, type iiid CDG IID | CDG IId | CDG2D | CDGIID | CDGIId | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId | Congenital Disorder Of Glycosylation, Type IIID MSH2017_2016_08_12:C564625|OMIM2016_04_17:137060|OMIM2016_04_17:607091 C4280480 Increased size of frontal sinus Increased size of frontal sinus HPO2016_07_04:HP:0005478 C2751294 Glaucoma 1, open angle, o GLAUCOMA 1, OPEN ANGLE, O | GLC1O | Glaucoma 1, Open Angle, O | Glc1o | Primary Open Angle Glaucoma-1O MSH2017_2016_08_12:C567753|OMIM2016_04_17:162662|OMIM2016_04_17:613100 C0431456 Congenital cysts post.segment Congenital cysts of the posterior segment | Congenital cysts of the posterior segment (disorder) | Congenital cysts post.segment | congenital anomalies cyst of posterior segment | congenital cysts of posterior segment | congenital cysts of posterior segment (diagnosis) SNOMEDCT_US_2016_09_01:204177009 C1522378 Leukemia, large granular lymphocytic Aggressive NK Cell Leukemia | Aggressive Natural Killer Cell Leukemia | LGL (large granular lymphocyte) leukemia | LGL Leukemia | LGL Leukemias | LGL leukemia | LGLL - Large granular lymphocytic leukaemia | LGLL - Large granular lymphocytic leukemia | Large Granular Lymphocyte Leukemia | Large granular lymphocytic leukaemia | Large granular lymphocytic leukemia | Large granular lymphocytic leukemia (disorder) | Large granular lymphocytosis | Leukemia, LGL | Leukemia, Large Granular Lymphocytic | Leukemia, Large Granular Lymphocytic [Disease/Finding] | Leukemia, Lymphocytic, Large Granular | Leukemias, LGL | Lymphoproliferative Disease of Granular Lymphocytes | Lymphoproliferative Disease of Large Granular Lymphocytes | large granular lymphocytic granuloma | large granular lymphocytic granuloma (diagnosis) | large granular lymphocytosis | leukemia lymphocytic chronic large granular lymphocytic MSH2017_2016_08_12:A spectrum of disorders characterized by clonal expansions of the peripheral blood LYMPHOCYTE populations known as large granular lymphocytes which contain abundant cytoplasm and azurophilic granules. Subtypes develop from either CD3-negative NATURAL KILLER CELLS or CD3-positive T-CELLS. The clinical course of both subtypes can vary from spontaneous regression to progressive, malignant disease. MSH2017_2016_08_12:D054066|SNOMEDCT_US_2016_09_01:128819001|SNOMEDCT_US_2016_09_01:277569004 C3495498 Cardiomyopathy, familial hypertrophic, 1 (disorder) CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 | CMH | CMH1 | Cardiomyopathy, Familial Hypertrophic, 1 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) MSH2017_2016_08_12:C566005|OMIM2016_04_17:160760|OMIM2016_04_17:192600 C0038565 Subphrenic abscess ABSCESS, SUBDIAPHRAGMATIC | ABSCESS, SUBPHRENIC | Abscess, Subdiaphragmatic | Abscess, Subphrenic | Abscess;subphrenic | Abscesses, Subdiaphragmatic | Abscesses, Subphrenic | SUBPHRENIC ABSCESS | Subdiaphragmatic Abscess | Subdiaphragmatic Abscesses | Subdiaphragmatic abscess | Subdiaphragmatic abscess (disorder) | Subphrenic Abscess | Subphrenic Abscess [Disease/Finding] | Subphrenic Abscesses | Subphrenic abscess | abscess; subphrenic | subdiaphragmatic abscess | subdiaphragmatic abscess (diagnosis) | subphrenic abscess | subphrenic abscess (diagnosis) | subphrenic; abscess MSH2017_2016_08_12:Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections. ICD10CM_2017:K65.1|MSH2017_2016_08_12:D013369|SNOMEDCT_US_2016_09_01:52478002 C1334655 Mediastinal germ cell tumor Germ Cell Neoplasm of Mediastinum | Germ Cell Neoplasm of the Mediastinum | Germ Cell Tumor of Mediastinum | Germ Cell Tumor of the Mediastinum | Mediastinal Germ Cell Neoplasm | Mediastinal Germ Cell Tumor NCI2016_02D:A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor. C2025988 Cellulitis of upper eyelid Cellulitis of upper eyelid | cellulitis of upper eyelid | cellulitis of upper eyelid (physical finding) HPO2016_07_04:HP:0012724 C1970253 Phosphoserine aminotransferase deficiency PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY | PSAT DEFICIENCY | PSAT Deficiency | PSATD | Phosphoserine Aminotransferase Deficiency MSH2017_2016_08_12:C567032|OMIM2016_04_17:610992 C1844809 Thick nasal alae Ala nasi, thick | Thick alae nasi | Thick nasal alae | Thickened ala nasi | Thickening of the alae nasi HPO2016_07_04:Increase in bulk of the ala nasi. [pmid:19152422] HPO2016_07_04:HP:0009928|OMIM2016_04_17:MTHU007937|OMIM2016_04_17:MTHU046339|OMIM2016_04_17:MTHU051744 C0393614 Isolated vocal tremor Isolated vocal tremor | Isolated vocal tremor (finding) SNOMEDCT_US_2016_09_01:230341002 C1861544 Lower lip pits Lower lip pit | Lower lip pits HPO2016_07_04:Depression located on the vermilion of the lower lip, usually paramedian. [HPO:sdoelken, pmid:19125428] HPO2016_07_04:HP:0000196|OMIM2016_04_17:MTHU018924 C0342642 Autosomal dominant hypophosphatemic rickets ADHR | Autosomal dominant hypophosphataemic rickets | Autosomal dominant hypophosphatemic rickets | Autosomal dominant hypophosphatemic rickets (disorder) | HYPOPHOSPHATEMIA, AUTOSOMAL DOMINANT | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT | Hypophosphatemia, Autosomal Dominant | Hypophosphatemic Rickets, Autosomal Dominant | VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT | Vitamin D-Resistant Rickets, Autosomal Dominant MSH2017_2016_08_12:C562791|OMIM2016_04_17:193100|OMIM2016_04_17:605380|SNOMEDCT_US_2016_09_01:237889002 C1290429 Neoplasm of blood vessel of perineum Neoplasm of blood vessel of perineum | Neoplasm of blood vessel of perineum (disorder) SNOMEDCT_US_2016_09_01:126761005 C1968556 Encephalopathy, neonatal severe, due to mecp2 mutations ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION | ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS | Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations | MECP2-related severe neonatal encephalopathy | Mecp2-Related Severe Neonatal Encephalopathy | Methyl-cytosine phosphate guanine binding protein 2 related severe neonatal encephalopathy | Methyl-cytosine phosphate guanine binding protein 2 related severe neonatal encephalopathy (disorder) MSH2017_2016_08_12:C566878|OMIM2016_04_17:300005|OMIM2016_04_17:300673|SNOMEDCT_US_2016_09_01:711487002 C0020451 Mild hyperemesis gravid. nos Hyperemesis gravidarum, mild | Mild hyperemesis gravid. NOS | Mild hyperemesis gravidarum | Mild hyperemesis gravidarum (disorder) | Mild hyperemesis gravidarum NOS | Mild hyperemesis gravidarum NOS (disorder) | Mild hyperemesis in pregnancy | mild hyperemesis gravidarum | mild hyperemesis gravidarum (diagnosis) ICD10CM_2017:O21.0|ICD9CM_2014:643.0|SNOMEDCT_US_2016_09_01:156114004|SNOMEDCT_US_2016_09_01:19569008|SNOMEDCT_US_2016_09_01:199020006|SNOMEDCT_US_2016_09_01:199024002 C1850573 Slender build Asthenic habitus | Slender build HPO2016_07_04:Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. [HPO:probinson] HPO2016_07_04:HP:0001533|OMIM2016_04_17:MTHU010735|OMIM2016_04_17:MTHU015308 C1865384 Amyotrophy, monomelic AMYOTROPHY, MONOMELIC | Amyotrophy, monomelic | HIRAYAMA DISEASE | Hirayama disease | Monomelic amyotrophy | SPINAL MUSCULAR ATROPHY, JUVENILE, NONPROGRESSIVE | Spinal Muscular Atrophy, Juvenile, Nonprogressive | Spinal muscular atrophy juvenile nonprogressive MSH2017_2016_08_12:C538253|OMIM2016_04_17:602440 C0338486 Accompaniments migraine Acephalalgic migraine | Acephalgic migraine | Migraine Aura without Headache | Migraine accompaniment | Migraine aura without headache | Migraine aura without headache (disorder) | Typical Aura without Headache | Typical aura without headache | accompaniments migraine | acephalgic migraine | acephalgic migraines | migraine aura without headache | migraine aura without headache (diagnosis) MSH2017_2016_08_12:D020325|SNOMEDCT_US_2016_09_01:230465000 C1970112 Aplasia cutis congenita over the scalp vertex Absent cutis congenita of vertex | Aplasia cutis congenita of vertex | Aplasia cutis congenita over the scalp vertex HPO2016_07_04:A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline. [HPO:curators] HPO2016_07_04:HP:0004471|OMIM2016_04_17:MTHU021199 C0206654 Leiomyomatosis Intravascul.leiomyomatosis | Intravascular leiomyomatosis | Intravenous leiomyomatosis | LEIOMYOMATOSIS | Leiomyomatoses | Leiomyomatosis | Leiomyomatosis (morphologic abnormality) | Leiomyomatosis NOS | Leiomyomatosis [Disease/Finding] | Leiomyomatosis, NOS | Leiomyomatosis, no ICD-O subtype | Leiomyomatosis, no ICD-O subtype (morphologic abnormality) | Leiomyomatosis, no International Classification of Diseases for Oncology subtype | Leiomyomatosis, no International Classification of Diseases for Oncology subtype (morphologic abnormality) | [M]Intravascul.leiomyomatosis | [M]Intravascular leiomyomatosis | [M]Intravascular leiomyomatosis (morphologic abnormality) | leiomyomatosis MSH2017_2016_08_12:The state of having multiple leiomyomas throughout the body. (Stedman, 25th ed) | NCI2016_02D:A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body. MSH2017_2016_08_12:D018231|SNOMEDCT_US_2016_09_01:189789002|SNOMEDCT_US_2016_09_01:75210008 C1846349 Impaired reabsorption of chloride Impaired reabsorption of chloride HPO2016_07_04:HP:0005579|OMIM2016_04_17:MTHU003376 C3150968 Microphthalmia, isolated, with coloboma 6 MCOPCB6 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 OMIM2016_04_17:601147|OMIM2016_04_17:606522|OMIM2016_04_17:613703 C0276588 Aids neuropathy AIDS NEUROPATHY | AIDS NEUROPATHY POLYNEUROPATHY | AIDS neuropathy | AIDS polyneuropathy | AIDS with polyneuropathy | AIDS with polyneuropathy (disorder) | acquired immunodeficiency syndrome (AIDS) polyneuropathy | acquired immunodeficiency syndrome (AIDS) polyneuropathy (diagnosis) | aid neuropathy | neuropathy aids SNOMEDCT_US_2016_09_01:68766007 C0034902 Pure red-cell aplasia APLASIA PURE RED CELL | APLASIA, PURE RED CELL | Aplasia pure red cell | Aplasia, Erythrocyte | Aplasia, Pure Red-Cell | Aplasia, pure red cell | Aplasias, Erythrocyte | Aplasias, Pure Red-Cell | Erythrocyte Aplasia | Erythrocyte Aplasias | Primary red cell aplasia | Pure Red Cell Aplasia | Pure Red-Cell Aplasia | Pure Red-Cell Aplasias | Pure red cell anaemia | Pure red cell anaemia, NOS | Pure red cell anemia | Pure red cell anemia, NOS | Pure red cell aplasia | Pure red cell aplasia (disorder) | Pure red cell aplasia, NOS | Red Cell Aplasia | Red Cell Aplasia, Pure | Red cell aplasia | Red cell aplasia NOS | Red cell hypoplasia | Red-Cell Aplasia, Pure | Red-Cell Aplasia, Pure [Disease/Finding] | Red-Cell Aplasias, Pure | anemia; pure red cell | aplasia cells pure red | aplasia; red cell | aplasia; red cell, primary | pure red cell anemia | pure red cell aplasia | pure red cell; anemia | pure red cell; aplasia | red cell aplasia | red cell; aplasia | red cell; aplasia, primary HPO2016_07_04:A type of anemia resuting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction. [HPO:probinson] | MSH2017_2016_08_12:Suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. HPO2016_07_04:HP:0012410|MSH2017_2016_08_12:D012010|SNOMEDCT_US_2016_09_01:191252000|SNOMEDCT_US_2016_09_01:191253005|SNOMEDCT_US_2016_09_01:50715003 C0265766 Congenital atresia of trachea Atresia of trachea | Atresia of trachea (disorder) | Congenital Atresia of Trachea | Congenital Tracheal Atresia | Congenital atresia of trachea | Congenital atresia of trachea (disorder) | Tracheal Atresia | Tracheal atresia | atresia of trachea | atresia of trachea (diagnosis) | atresia; trachea | trachea; atresia | tracheal atresia HPO2016_07_04:A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking. [HPO:probinson, pmid:9776081] | NCI2016_02D:A rare, fatal congenital malformation in which the trachea is severely underdeveloped. HPO2016_07_04:HP:0100682|ICD10CM_2017:Q32.1|OMIM2016_04_17:MTHU033240|SNOMEDCT_US_2016_09_01:204548001|SNOMEDCT_US_2016_09_01:53189005 C0855176 Bladder adenocarcinoma stage i Bladder Adenocarcinoma Stage I | Bladder adenocarcinoma stage I | Stage I Bladder Adenocarcinoma | Stage I Bladder Adenocarcinoma AJCC v6 | Stage I Bladder Adenocarcinoma AJCC v7 NCI2016_02D:Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) C1839730 Prieto x-linked mental retardation syndrome MENTAL RETARDATION, X-LINKED, SYNDROMIC 2 | MENTAL RETARDATION, X-LINKED, WITH DYSMORPHISM AND CEREBRAL ATROPHY | MRXS2 | Mental Retardation, X-Linked, With Dysmorphism And Cerebral Atrophy | Mental retardation, X-linked with dysmorphism and cerebral atrophy | Mental retardation, X-linked, syndromic 2 | PRIETO X-LINKED MENTAL RETARDATION SYNDROME | PRS | Prieto X-linked mental retardation syndrome | Prieto syndrome | Prieto syndrome (PRS) | X-linked dysmorphic syndrome with mental retardation | X-linked mental retardation syndrome 2 | X-linked mental retardation syndrome 2 (MRXS2) | mental retardation-dysmorphism-cerebral atrophy syndrome JABL99:Mental retardation syndrome with facial abnormalities, subcortical cerebral atrophy, defective tooth development, skin dimples at the lower back, lower limb defects, clinodactyly, luxation of the patella, and eye abnormalities. MSH2017_2016_08_12:C535274|OMIM2016_04_17:309610 C0678213 Complete hydatidiform mole CHM | CHM - Complete hydatidiform mole | Classical Hydatidiform Mole | Complete Hydatid Mole | Complete Hydatidiform Mole | Complete Hydatidiform Moles | Complete Molar Pregnancy | Complete Mole | Complete hydatidiform mole | Complete hydatidiform mole (disorder) | HYDATIDIFORM MOLE, COMPLETE | Hydatidiform Mole, Complete | Hydatidiform Moles, Complete | MOLE, VESICULAR | Mole, Complete Hydatidiform | Moles, Complete Hydatidiform | Vesicular mole | Vesicular mole NOS | complete hydatidiform mole | complete; hydatidiform mole | hydatidiform mole; complete | mole; hydatidiform, complete | vesicular mole MSH2017_2016_08_12:Derived from the fertilization of an anuclear ovum by one or sometimes two haploid sperm. Its molar chromosomes derive entirely from the paternal origin. It has no identifiable embryonic or fetal tissue. The chorionic villi have generalized swelling and diffuse trophoblastic hyperplasia. Most complete moles (>90%) have a 46,XX karyotype and the rest 46,XY karyotype. | NCI2016_02D:A gestational trophoblastic disorder in which there is no embryo or normal placental tissue and the chorionic villi are hydropic.(NICHD) | NCI2016_NICHD_1602D:A placental disorder where the majority of the chorionic villi are hydropic. ICD10CM_2017:O01.0|ICD10CM_2017:O01.9|MSH2017_2016_08_12:D006828|OMIM2016_04_17:231090|SNOMEDCT_US_2016_09_01:237249000|SNOMEDCT_US_2016_09_01:48430004 C2751870 Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUAL APPEARANCE | Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance MSH2017_2016_08_12:C567849|OMIM2016_04_17:612947 C0431370 Atrophy of corpus callosum Atrophic corpus callosum | Atrophy of corpus callosum | Atrophy of corpus callosum (disorder) | Atrophy of the corpus callosum | Atrophy/Degeneration of the corpus callosum | Corpus callosum atrophy HPO2016_07_04:The presence of atrophy (wasting) of the corpus callosum. [HPO:sdoelken] HPO2016_07_04:HP:0007371|OMIM2016_04_17:MTHU001675|OMIM2016_04_17:MTHU012347|SNOMEDCT_US_2016_09_01:253142006 C2702818 Compression arthralgia of left shoulder region compression arthralgia of left shoulder region | compression arthralgia of left shoulder region (diagnosis) C0456013 Acrocyanosis; newborn Acrocyanosis neonatal | Neonatal Acrocyanosis | Neonatal acrocyanosis | Neonatal acrocyanosis (disorder) | Neonatal acrocyanosis (finding) | Perinatal acrocyanosis | acrocyanosis; newborn | newborn; acrocyanosis NCI2016_02D:Transient cyanotic discoloration of the hands and feet, especially fingers and toes, in a newborn. SNOMEDCT_US_2016_09_01:206324006 C3538905 Nci ctep sdc wilms tumor sub-category terminology NCI CTEP SDC Wilms Tumor Sub-Category Terminology | NCI CTEP Simple Disease Classification Wilms Tumor Sub-Category Terminology | Wilms Tumor NCI2016_02D:Wilms Tumor is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology. C0796074 Mohr-tranebjaerg syndrome DDP | DDS | DEAFNESS SYNDROME, PROGRESSIVE, WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCY | DEAFNESS-DYSTONIA-OPTIC ATROPHY SYNDROME | DYSTONIA-DEAFNESS SYNDROME | Deafness (DFN-1) dystonia, mental deficiency and blindness | Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency | Deafness dystonia syndrome | Deafness-Dystonia Syndrome | Deafness-Dystonia-Optic Neuronopathy Syndrome | Deafness-dystonia syndrome | Deafness-dystonia-optic atrophy syndrome | Deafness-dystonia-optic neuronopathy syndrome | Deafness-dystonia-optic neuronopathy syndrome (disorder) | Dystonia-Deafness Syndrome | MOHR-TRANEBJAERG SYNDROME | MTS | Mohr-Tranebjaerg syndrome | Mohr-Tranebjaerg syndrome (MTS) | X-linked recessive deafness syndrome | dystonia-deafness syndrome JABL99:A syndrome of deafness, visual impairment leading to blindness, dystonia, multiple fractures, and mental retardation without other clinical manifestations. | JABL99:Neural deafness, dystonia, and possible mental impairment. MSH2017_2016_08_12:C535808|OMIM2016_04_17:300356|OMIM2016_04_17:304700|SNOMEDCT_US_2016_09_01:702423009 C0857576 Abnormality of thyroid physiology Abnormal thyroid function | Abnormality of thyroid physiology | Thyroid function abnormal HPO2016_07_04:An abnormal functionality of the thyroid gland. [HPO:probinson] HPO2016_07_04:HP:0002926 C0269663 Hyperemesis gravidarum, starting before the end of the 22nd week of gestation, with metabolic disturbance, such as dehydration Hyperemesis gravidarum before end of 22 week gestation with dehydration | Hyperemesis gravidarum before end of 22 week gestation with dehydration (disorder) | Hyperemesis gravidarum, starting before the end of the 22nd week of gestation, with metabolic disturbance, such as dehydration SNOMEDCT_US_2016_09_01:87621000 C0473546 Vibratory angio-edema Angioedema, vibratory | VIBRATORY ANGIOEDEMA | Vibratory angio-edema | Vibratory angio-oedema | Vibratory angioedema | Vibratory angioedema (disorder) MSH2017_2016_08_12:C536347|OMIM2016_04_17:125630|SNOMEDCT_US_2016_09_01:238694002 C0158317 Patellar tendinitis, unspecified knee Patellar ligament desmitis | Patellar tendinitis | Patellar tendinitis, unspecified knee | Patellar tendonitis | Patellar tendonitis (disorder) | patella; tendinitis | patellar tendinitis | patellar tendinitis (diagnosis) | patellar tendonitis | tendinitis; patella ICD10CM_2017:M76.5|ICD10CM_2017:M76.50|ICD9CM_2014:726.64|SNOMEDCT_US_2016_09_01:156662006|SNOMEDCT_US_2016_09_01:268089006|SNOMEDCT_US_2016_09_01:37785001 C1260959 Drusen Drusen | Drusen (disorder) | Drusen (morphologic abnormality) | Drusen -RETIRED- | Drusen [Ambiguous] | drusen | drusen (diagnosis) | drusens HPO2016_07_04:Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. [DDD:gblack] HPO2016_07_04:HP:0011510|SNOMEDCT_US_2016_09_01:123154009|SNOMEDCT_US_2016_09_01:18695008|SNOMEDCT_US_2016_09_01:193390001 C1859092 Choroid plexus calcification and mental retardation CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION | Choroid Plexus Calcification and Mental Retardation | Choroid plexus calcification with mental retardation | Choroido-cerebral calcification syndrome with retardation MSH2017_2016_08_12:C535357|OMIM2016_04_17:215480 C0025261 Memory disorders Cognitive Retention Disorder | Cognitive Retention Disorders | Memory Disorder | Memory Disorders | Memory Disorders [Disease/Finding] | Memory disorders | Retention Disorder, Cognitive | Retention Disorders, Cognitive | disorder memory | disorder; memory | disorders memory | memory disorder | memory disorders | memory; disorder CSP2006:disturbances in registering, retaining, or recalling a mental impression; e.g., amnesia or fugue. | MSH2017_2016_08_12:Disturbances in registering an impression, in the retention of an acquired impression, or in the recall of an impression. Memory impairments are associated with DEMENTIA; CRANIOCEREBRAL TRAUMA; ENCEPHALITIS; ALCOHOLISM (see also ALCOHOL AMNESTIC DISORDER); SCHIZOPHRENIA; and other conditions. MSH2017_2016_08_12:D008569 C0014599 Epithelial hyperplasia Epithelial hyperplasia | Epithelial hyperplasia (disorder) | Epithelial hyperplasia (morphologic abnormality) | epithelial hyperplasia | epithelial; hyperplasia | hyperplasia; epithelial SNOMEDCT_US_2016_09_01:201321002|SNOMEDCT_US_2016_09_01:31390008 C1412036 Anal squamous cell carcinoma Anal Squamous Cell Carcinoma | Anal squamous cell carcinoma | Epidermoid Anal Carcinoma | Epidermoid Carcinoma of Anus | Epidermoid Carcinoma of the Anus | Sq cell Ca anus | Squamous Cell Anal Carcinoma | Squamous Cell Carcinoma of Anus | Squamous Cell Carcinoma of the Anus | Squamous cell carcinoma - anus | Squamous cell carcinoma of the anus | anal cancer, epidermoid carcinoma | anal cancer, squamous cell carcinoma | anus cancer, epidermoid carcinoma | anus cancer, squamous cell carcinoma | epidermoid carcinoma of the anus | squamous cell carcinoma of anus | squamous cell carcinoma of anus (diagnosis) | squamous cell carcinoma of the anus NCI2016_02D:A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC. SNOMEDCT_US_2016_09_01:255084004 C0268413 Adult hypophosphatasia (disorder) Adult hypophosphatasia | Adult hypophosphatasia (disorder) | HYPOPHOSPHATASIA, ADULT | HYPOPHOSPHATASIA, MILD | Hypophosphatasia, Adult | Hypophosphatasia, Mild | Hypophosphatasia, adult type MSH2017_2016_08_12:C562647|OMIM2016_04_17:146300|OMIM2016_04_17:171760|SNOMEDCT_US_2016_09_01:20756002 C1833340 Synostotic posterior plagiocephaly Craniosynostoses, Lambdoidal | Craniosynostosis, Lambdoidal | Craniosynostosis, lambdoid | Lambdoid Synostoses | Lambdoid Synostosis | Lambdoid craniosynostosis | Lambdoid suture craniosynostosis | Lambdoid suture synostosis | Lambdoidal Craniosynostoses | Lambdoidal Craniosynostosis | Lambdoidal craniosynostosis | Parieto-occipital craniosynostosis | Parieto-occipital craniosynostosis (disorder) | Plagiocephaly, Synostotic Posterior | Posterior Plagiocephaly, Synostotic | Synostoses, Lambdoid | Synostosis, Lambdoid | Synostotic Posterior Plagiocephaly HPO2016_07_04:A kind of craniosynostosis affecting the lambdoidal suture. [HPO:probinson] | MSH2017_2016_08_12:Premature fusion of one of the lambdoid sutures. HPO2016_07_04:HP:0004443|MSH2017_2016_08_12:D003398|OMIM2016_04_17:MTHU022184|OMIM2016_04_17:MTHU051326|SNOMEDCT_US_2016_09_01:109417006 C0393695 Early childhood epilepsy, myoclonic Early Childhood Epilepsy, Myoclonic | Early Childhood, Myoclonic Epilepsy | Epilepsy, Early Childhood, Myoclonic | Epilepsy, Myoclonic, Early Childhood | Myoclonic Epilepsy, Early Childhood | Myoclonic epilepsy of early childhood | Myoclonic epilepsy of early childhood (disorder) MSH2017_2016_08_12:D004831|SNOMEDCT_US_2016_09_01:230412007 C1710418 Thyroid gland teratoma Thyroid Gland Teratoma NCI2016_02D:A mature or immature multicystic germ cell tumor involving or being in direct continuity with the thyroid gland. Microscopically, many tissue types and growth patterns may be seen. According to the presence of mature or immature tissue elements, these lesions are graded from I to IV. The prognosis depends on the age of the patient, the tumor size at presentation, and the histologic grade. C3542024 Aortic valve disease 2 AORTIC VALVE DISEASE 2 | AOVD2 | BICUSPID AORTIC VALVE OMIM2016_04_17:602931|OMIM2016_04_17:614823 C1864853 Increased vertebral height Increased vertebral height | Tall vertebral bodies HPO2016_07_04:Increased top to bottom height of vertebral bodies. [HPO:probinson] HPO2016_07_04:HP:0004570|OMIM2016_04_17:MTHU000186|OMIM2016_04_17:MTHU011796 C3806746 Mental retardation, x-linked 99 MENTAL RETARDATION, X-LINKED 99 | MRX99 OMIM2016_04_17:300072|OMIM2016_04_17:300919 C2931070 Schofer beetz bohl syndrome Nephrogenic diabetes insipidus and intracranial calcification syndrome | Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder) | Schofer Beetz Bohl syndrome SNOMEDCT_US_2016_09_01:This syndrome has characteristics of nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. It has been described in two siblings. MSH2017_2016_08_12:C535949|SNOMEDCT_US_2016_09_01:716200002 C0018199 Granuloma, plasma cell Granuloma, Plasma Cell | Granuloma, Plasma Cell [Disease/Finding] | Granulomas, Plasma Cell | Plasma Cell Granuloma | Plasma Cell Granulomas | Plasma cell granuloma | Plasma cell granuloma (morphologic abnormality) | Plasma cell pseudotumor | Plasma cell pseudotumour | plasma cell granuloma MSH2017_2016_08_12:A slow-growing benign pseudotumor in which plasma cells greatly outnumber the inflammatory cells. MSH2017_2016_08_12:D006104|SNOMEDCT_US_2016_09_01:21971004 C0016537 Forearm injury FOREARM INJURY | Forearm Injuries | Forearm Injuries [Disease/Finding] | Forearm Injury | Forearm injury | Injuries, Forearm | Injury of forearm | Injury of forearm (disorder) | Injury, Forearm | Unspecified injury of forearm | forearm injuries | forearm injury | injury of forearm | injury of forearm (diagnosis) | of forearm injury MSH2017_2016_08_12:Injuries to the part of the upper limb of the body between the wrist and elbow. ICD10CM_2017:S59.91|MSH2017_2016_08_12:D005543|SNOMEDCT_US_2016_09_01:125597008 C1845118 Short stature, idiopathic, x-linked ISS | SHORT STATURE, IDIOPATHIC, X-LINKED | Short Stature, Idiopathic, X-Linked MSH2017_2016_08_12:C564479|OMIM2016_04_17:300582|OMIM2016_04_17:312865 C3554499 Microcephaly 10, primary, autosomal recessive MCPH10 | MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE OMIM2016_04_17:615095 C0023370 Aortic occlusion distal chronic AORTIC BIFURCATION SYNDROME, ACUTE | AORTIC BIFURCATION SYNDROME, CHRONIC | AORTIC OCCLUSION DISTAL CHRONIC | Aortic bifurcation embolus | Aortic bifurcation embolus (disorder) | Aortic bifurcation syndrome | Aortic bifurcation syndrome (disorder) | Aortic bifurcation syndrome (disorder) [Ambiguous] | Aortic bifurcation thrombosis syndrome | Aortoiliac obstruction | Chronic aorto-iliac occlusion syndrome | EMBOLISM, AORTIC BIFURCATION | EMBOLISM, AORTIC, SADDLE | LERICHE SYNDROME | Leriche | Leriche Syndrome | Leriche Syndrome [Disease/Finding] | Leriche syndrome | Leriche syndrome (diagnosis) | Leriche's Syndrome | Leriche's syndrome | Leriche's syndrome (disorder) | Leriches Syndrome | Saddle embolus | Saddle embolus (morphologic abnormality) | Saddle embolus of abdominal aorta | Saddle embolus of aorta | Saddle embolus of aorta syndrome | Syndrome, Leriche | Syndrome, Leriche's | aorta; bifurcation, syndrome | aorta; embolism, bifurcation | aorta; embolism, saddle | aorta; saddle embolus | aorta; thrombosis, bifurcation | aortic bifurcation; syndrome | bifurcation; aortic, syndrome | embolism; aortic, bifurcation | embolism; aortic, saddle | leriche syndrome | leriche's syndrome | leriches syndrome | saddle embolus of abdominal aorta | saddle embolus of abdominal aorta (diagnosis) | saddle embolus; aorta | syndrome leriche | syndrome; aortic bifurcation | thrombosis; aortic, bifurcation MSH2017_2016_08_12:A condition caused by occlusion of terminal aorta, the primary branches of the ABDOMINAL AORTA, as in aortoiliac obstruction. Leriche syndrome usually occurs in males and is characterized by IMPOTENCE, absence of a pulse in the femoral arteries, weakness and numbness in the lower back, buttocks, hips, and lower limbs. | NCI2016_02D:An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention. ICD10CM_2017:I74.01|ICD10CM_2017:I74.09|ICD9CM_2014:444.01|MSH2017_2016_08_12:D007925|SNOMEDCT_US_2016_09_01:195316005|SNOMEDCT_US_2016_09_01:233972005|SNOMEDCT_US_2016_09_01:307816004|SNOMEDCT_US_2016_09_01:37778000|SNOMEDCT_US_2016_09_01:56336009 C3164914 Cystic dermoid choristoma of skin of back Cystic dermoid choristoma of skin of back | Cystic dermoid choristoma of skin of back (disorder) | Dermoid cyst of skin of back SNOMEDCT_US_2016_09_01:448671004 C4275068 Chronic diarrhea due to glucoamylase deficiency Chronic diarrhea due to glucoamylase deficiency | Chronic diarrhea due to glucoamylase deficiency (disorder) | Chronic diarrhoea due to glucoamylase deficiency | Maltase glucoamylase deficiency SNOMEDCT_US_2016_09_01:This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhoea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet. | SNOMEDCT_US_2016_09_01:This syndrome is characterized by chronic diarrhea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet. SNOMEDCT_US_2016_09_01:716277000 C0340293 Anterior myocardial infarction AMI | Anterior MI | Anterior Wall Myocardial Infarction | Anterior Wall Myocardial Infarction [Disease/Finding] | Anterior myocard.infarct NOS | Anterior myocardial infarction | Anterior myocardial infarction NOS | Anterior myocardial infarction NOS (disorder) | MYOCARDIAL INFARCTION (ANTERIOR WALL) | MYOCARDIAL INFARCTION ANTERIOR | Myocardial Infarction, Anterior Wall | ami | anterior heart attack | anterior infarction | anterior mi | anterior myocardial infarction | anterior myocardial infarction (AMI) MSH2017_2016_08_12:MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction. MSH2017_2016_08_12:D056988|SNOMEDCT_US_2016_09_01:194799007 C0751877 Hereditary central nervous system demyelinating diseases Central Nervous System Demyelinating Diseases, Hereditary | Central Nervous System Demyelinating Hereditary Diseases | Central Nervous System Hereditary Demyelinating Diseases | Demyelinating Central Nervous System Diseases, Hereditary | Demyelinating Diseases, Central Nervous System, Hereditary | Hereditary Central Nervous System Demyelinating Diseases | Hereditary Central Nervous System Demyelinating Diseases [Disease/Finding] | Hereditary Demyelinating Diseases, Central Nervous System MSH2017_2016_08_12:Inherited conditions characterized by a loss of MYELIN in the central nervous system. MSH2017_2016_08_12:D020279 C1963280 Vitreous hemorrhage adverse event Vitreous Hemorrhage Adverse Event | Vitreous hemorrhage C1849095 Cochlear degeneration Cochlear degeneration | Progressive cochlear degeneration HPO2016_07_04:Degeneration of the cochlea. [HPO:probinson] HPO2016_07_04:HP:0005102|OMIM2016_04_17:MTHU009351 C4021739 Abnormality of the acetabulum Abnormality of the acetabulum | Abnormality of the hipbone socket | Acetabular abnormality HPO2016_07_04:An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. [HPO:probinson] HPO2016_07_04:HP:0003170 C1444074 Granulomatous inflammatory morphology Granulomatous inflammatory morphology | Granulomatous inflammatory morphology (morphologic abnormality) SNOMEDCT_US_2016_09_01:409775006 C0015974 Periodic fever Fever, periodic | Periodic fever | fever; periodic | fevers periodic | periodic fever | periodic; fever C1863872 Upper eyelid coloboma Cleft upper eyelid | Coloboma of the upper eyelid | Full thickness defect of the upper eyelid | Notched upper eyelid | Upper eyelid coloboma | Upper eyelid colobomas HPO2016_07_04:A short discontinuity of the margin of the upper eyelid. [HPO:probinson] HPO2016_07_04:HP:0000636|OMIM2016_04_17:MTHU005106|OMIM2016_04_17:MTHU012610 C4255098 Cleft tongue Cleft tongue | Forked tongue | Snake tongue HPO2016_07_04:HP:0010297 C0043459 Zellweger syndrome CEREBROHEPATORENAL SYNDROME | CHR | Cerebro Hepato Renal Syndrome | Cerebro-Hepato-Renal Syndrome | Cerebrohepatorenal Syndrome | Cerebrohepatorenal syndrome | PBD1A | PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | ZS | ZWS | Zellweger | Zellweger Disease | Zellweger Syndrome | Zellweger Syndrome [Disease/Finding] | Zellweger syndrome | Zellweger syndrome (diagnosis) | Zellweger syndrome (disorder) | Zellweger's Syndrome | Zellweger's syndrome | cerebrohepatorenal syndrome | cerebrohepatorenal syndrome (Zellweger syndrome) | congenital iron overload | syndrome zellweger | zellweger disease | zellweger syndrome | zellweger's syndrome | zellwegers syndrome CSP2006:autosomal recessive peroxisomal disorder, also known as Zellweger syndrome, that typically presents in the neonatal period and is usually fatal; clinical features include hypotonia, dysmorphic skull and facial bones, visual compromise, multifocal seizures, hepatomegaly, biliary dysgenesis, and swallowing difficulties; pathologically, there are migration deficits of the neocortex and degeneration of white matter tracts; Zellweger-like syndrome refers to conditions that phenotypically resemble neonatal Zellweger syndrome, but occur in childhood or adulthood. | MSH2017_2016_08_12:An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis. | NCI2016_02D:A rare group of autosomal recessive inherited disorders characterized by the reduction or absence of peroxisomes in the tissues. Signs and symptoms include increased levels of iron and copper in the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and hypotonia. ICD10CM_2017:E71.510|MSH2017_2016_08_12:D015211|OMIM2016_04_17:214100|OMIM2016_04_17:602136|SNOMEDCT_US_2016_09_01:88469006 C0033626 Protein deficiency Deficiencies, Protein | Deficiency, Protein | Protein Deficiencies | Protein Deficiency | Protein Deficiency [Disease/Finding] | Protein deficiency | deficiencies protein | deficiency protein | deficiency; protein | protein deficiencies | protein deficiency | protein; deficiency CSP2006:nutritional condition produced by a deficiency of proteins in the diet; growth, immune response, repair, and production of enzymes and hormones are all impaired in severe protein deficiency; protein deficiency may also arise in the face of adequate protein intake if the dietary protein is inadequate in one or more aminoacids. | MSH2017_2016_08_12:A nutritional condition produced by a deficiency of proteins in the diet, characterized by adaptive enzyme changes in the liver, increase in amino acid synthetases, and diminution of urea formation, thus conserving nitrogen and reducing its loss in the urine. Growth, immune response, repair, and production of enzymes and hormones are all impaired in severe protein deficiency. Protein deficiency may also arise in the face of adequate protein intake if the protein is of poor quality (i.e., the content of one or more amino acids is inadequate and thus becomes the limiting factor in protein utilization). (From Merck Manual, 16th ed; Harrison's Principles of Internal Medicine, 12th ed, p406) MSH2017_2016_08_12:D011488 C0032578 Polyploidy Polyploid | Polyploidies | Polyploids | Polyploidy | Polyploidy (morphologic abnormality) | Polyploidy [Disease/Finding] | Polyploidy syndrome | Polyploidy syndrome (diagnosis) | Polyploidy syndrome (disorder) | Polyploidy syndrome, NOS | chromosomal anomalies polyploidy syndrome | polyploid | polyploidy CSP2006:having more than two full sets of homologous chromosomes. | MSH2017_2016_08_12:The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc. | NCI2016_02D:A numerical chromosomal abnormality characterized by the presence of more than two sets of chromosomes. MSH2017_2016_08_12:D011123|SNOMEDCT_US_2016_09_01:205669003|SNOMEDCT_US_2016_09_01:48099008|SNOMEDCT_US_2016_09_01:72991005 C0859036 Glomerulonephritis diffuse Diffuse Glomerulonephritis | Glomerulonephritis diffuse NCI2016_02D:Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure. C0220982 Ketoacidosis KETO ACIDOSIS | KETOACIDOSIS | Ketoacidosis | Ketoacidosis (disorder) | Ketoacidosis, NOS | keto acidosis | ketoacidosis HPO2016_07_04:Acidosis resulting from accumulation of ketone bodies. [HPO:probinson] HPO2016_07_04:HP:0001993|OMIM2016_04_17:MTHU012088|SNOMEDCT_US_2016_09_01:56051008 C2700593 Cystic dermoid choristoma Cystic dermoid choristoma | Cystic dermoid choristoma (disorder) | Cystic dermoid choristoma (morphologic abnormality) SNOMEDCT_US_2016_09_01:416529009|SNOMEDCT_US_2016_09_01:441459009 C4023720 Cystic lesions of the pinnae Cystic lesions of the pinnae HPO2016_07_04:HP:0010723 C3899666 Childhood ependymoblastoma Childhood Ependymoblastoma NCI2016_02D:An ependymoblastoma that occurs during childhood. C1333630 Foramen magnum meningioma Foramen Magnum Meningioma | Meningioma of Foramen Magnum | Meningioma of the Foramen Magnum | meningioma of foramen magnum | meningioma of foramen magnum (diagnosis) NCI2016_02D:A meningioma that affects the foramen magnum. C1260881 Allergic bronchitis ALLERGIC BRONCHITIS | Allergic bronchitis | Allergic bronchitis (disorder) | Allergic bronchitis, NOS | Bronchitis, allergic | Bronchitis;allergic | Feline allergic bronchitis | Feline allergic bronchitis (disorder) | Feline asthma | allergic bronchitis | allergic bronchitis (diagnosis) | bronchitis allergic SNOMEDCT_US_2016_09_01:21341004|SNOMEDCT_US_2016_09_01:278517007|SNOMEDCT_US_2016_09_01:405720007|SNOMEDCT_US_2016_09_01:87641005 C1865639 Gracile bone dysplasia GCLEB | GRACILE BONE DYSPLASIA | Gracile bone dysplasia | HABRODYSPLASIA | Habrodysplasia | OSTEOCRANIOSPLENIC SYNDROME | OSTEOCRANIOSTENOSIS | Osteocraniosplenic syndrome | Osteocraniostenosis | SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES | Skeletal dysplasia, lethal, with gracile bones MSH2017_2016_08_12:C537291|OMIM2016_04_17:602361|OMIM2016_04_17:615292 C0011057 Hearing loss, sudden Hearing Loss, Sudden | Hearing Loss, Sudden [Disease/Finding] | Sudden Hearing Loss | Sudden hearing loss | Sudden hearing loss (disorder) | Sudden hearing loss (finding) | Sudden hearing loss NOS | Sudden hearing loss, NOS | Sudden hearing loss, unspecif. | Sudden hearing loss, unspecified | Sudden idiopathic hearing loss | Unspecified sudden hearing loss | Unspecified sudden hearing loss (disorder) | Unspecified sudden hearing loss (finding) | hearing loss sudden | sudden hear loss | sudden hearing loss | sudden loss of hearing | sudden loss of hearing (symptom) MSH2017_2016_08_12:Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning. ICD10CM_2017:H91.2|ICD9CM_2014:388.2|MSH2017_2016_08_12:D003639|SNOMEDCT_US_2016_09_01:155247008|SNOMEDCT_US_2016_09_01:194391007|SNOMEDCT_US_2016_09_01:79471008 C0153252 Systemic candidiasis CANDIDIASIS DISSEMINATED | Candidiasis, systemic | Candidiasis;systemic | Disseminated Candidiasis | Disseminated candida | Disseminated candidiasis | Disseminated candidiasis (disorder) | Disseminated candidosis | Invasive candidiasis | Systemic candida | Systemic candida infections | Systemic candidiasis | Systemic moniliasis | candida systemic | candidas systemic | candidiasis systemic | candidiasis; disseminated | candidiasis; systemic | disseminated candidiasis | disseminated; candidiasis | systemic candida | systemic candidiasis | systemic candidiasis (diagnosis) | systemic; candidiasis NCI2016_02D:A fungal infection by any of the Candida species in two or more non-contiguous sterile body compartments. | NCI2016_NICHD_1602D:A fungal infection by any of the Candida species in two or more non-contiguous sterile body compartments. ICD10CM_2017:B37.7|ICD9CM_2014:112.5|MSH2017_2016_08_12:C536777|OMIM2016_04_17:MTHU037777|SNOMEDCT_US_2016_09_01:70572005 C4225218 Autoinflammatory syndrome, familial, behcet-like AISBL | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE OMIM2016_04_17:191163|OMIM2016_04_17:616744 C0235896 Infiltrate of lung Infiltrate of lung | Infiltrate of lung (finding) | LUNG INFILTRATION | Lung Infiltrate | Lung infiltrates | Lung infiltration | Lung infiltration NOS | PULMONARY INFILTRATE | PULMONARY INFILTRATION | Pulmonary Infiltrate | Pulmonary infiltrate | Pulmonary infiltrate NOS | Pulmonary infiltrates | Pulmonary infiltration | Pulmonary infiltration NOS | Pulmonic infiltration | infiltrate; lung | infiltrates pulmonary | infiltration lung | infiltration lungs | lung infiltration | lung; infiltrate | pulmonary infiltrate | pulmonary infiltration NCI2016_02D:A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma. HPO2016_07_04:HP:0002113|ICD10CM_2017:R91.8|OMIM2016_04_17:MTHU002867 C0240803 Primary cerebral lymphoma Brain lymphoma | CEREBRAL LYMPHOMA PRIMARY | Cerebral Lymphoma | Cerebral lymphoma | PRIMARY LYMPHOMA OF BRAIN | Primary Cerebral Lymphoma | Primary Lymphoma of Cerebrum | Primary Lymphoma of the Cerebrum | Primary Lymphoma, Brain | Primary cerebral lymphoma | Primary cerebral lymphoma (diagnosis) | Primary cerebral lymphoma (disorder) | brain lymphoma | brain lymphoma primary | brain lymphomas | cerebral lymphoma | lymphoma brain | malignant lymphoma of brain | malignant lymphoma of brain (diagnosis) | malignant neoplasm lymphoma of brain primary | neoplasm - brain cerebrum, malignant primary lymphoma | primary brain lymphoma | primary cerebral lymphoma | primary malignant lymphoma of brain | primary malignant lymphoma of brain (diagnosis) NCI2016_02D:A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion. SNOMEDCT_US_2016_09_01:276836002 C3696376 3-methylglutaconic aciduria 3-@METHYLGLUTACONIC ACIDURIA | 3-Methylglutaconic Aciduria | 3-Methylglutaconic aciduria | 3-Methylglutaconic aciduria (disorder) | 3-methylglutaconic aciduria | 3-methylglutaconic aciduria (diagnosis) | 3mga (3-Methylglutaconic Aciduria) NCI2016_02D:A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine. HPO2016_07_04:HP:0003535|ICD10CM_2017:E71.111|MSH2017_2016_08_12:C579867|OMIM2016_04_17:590050|OMIM2016_04_17:MTHU039712|SNOMEDCT_US_2016_09_01:237950009 C0021607 Organic insomnia, unspecified Insomnia disorder related to known organic factor | Insomnia disorder related to known organic factor (disorder) | Organic insomnia | Organic insomnia, unspecified | organic insomnia | organic insomnia (diagnosis) ICD9CM_2014:327.00|SNOMEDCT_US_2016_09_01:81608000 C2073625 X-ray of chest: pleural effusion X-ray chest pleural effusion | pleural effusion | x-ray of chest: pleural effusion | x-ray of chest: pleural effusion (procedure) C0264774 Mitral and aortic incompetence Mitral + aortic regurgitation | Mitral and aortic incompetence | Mitral and aortic incompetence (disorder) | Mitral and aortic insuffic. | Mitral and aortic insufficiency | Mitral and aortic regurgitation | Mitral and aortic valve regurgitation | Mitral valve insufficiency and aortic valve insufficiency | insufficiency of mitral valve and aortic valve | insufficiency of mitral valve and aortic valve (diagnosis) ICD9CM_2014:396.3|SNOMEDCT_US_2016_09_01:194736003 C0475021 Colonic haematoma Colonic haematoma | Colonic hematoma | Colonic hematoma (disorder) SNOMEDCT_US_2016_09_01:262870003 C0271760 Goiter, lingual Goiter, Lingual | Goiters, Lingual | Lingual Goiter | Lingual Goiter [Disease/Finding] | Lingual Goiters | Lingual goiter | Lingual goiter (disorder) | Lingual goitre MSH2017_2016_08_12:Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms. MSH2017_2016_08_12:D047268|SNOMEDCT_US_2016_09_01:75667007 C1856872 Sloping shoulders Down-sloping shoulders | Rounded shoulders | Rounded, sloping shoulders | Sloping shoulders HPO2016_07_04:Low set, steeply sloping shoulders. [HPO:probinson] HPO2016_07_04:HP:0200021|OMIM2016_04_17:MTHU013065 C0406502 Hereditary benign telangiectasia (disorder) HBT | Hereditary benign telangiectasia | Hereditary benign telangiectasia (disorder) | TELANGIECTASIA, HEREDITARY BENIGN | Telangiectasia, Hereditary Benign MSH2017_2016_08_12:C562908|OMIM2016_04_17:187260|SNOMEDCT_US_2016_09_01:238764001 C0751670 Machado-joseph disease type iii Machado Joseph Disease Type III | Machado-Joseph Disease Type III | Type III Machado Joseph Disease | Type III Machado-Joseph Disease MSH2017_2016_08_12:D017827 C2750995 Cardiomyopathy, dilated, 1dd CARDIOMYOPATHY, DILATED, 1DD | CMD1DD | Cardiomyopathy, Dilated, 1DD MSH2017_2016_08_12:C567725|OMIM2016_04_17:613171|OMIM2016_04_17:613172 C4020713 Penile melanosis Penile melanosis HPO2016_07_04:HP:0030258 C0474444 Corneal stromal edema Corneal stromal edema | Corneal stromal edema (disorder) | Corneal stromal edema (finding) | Corneal stromal oedema | Edema, Stromal | Stromal Corneal Edema | Stromal Edema | Stromal edema | corneal stromal edema | corneal stromal edema (physical finding) HPO2016_07_04:Abnormal accumulation of fluid and swelling of the stroma of cornea. [HPO:probinson] | NCI2016_02D:Fluid from the aqueous humor enters the corneal stroma and causes swelling. | NCI2016_FDA_1602D:Fluid from the aqueous humor enters the corneal stroma and causes swelling. HPO2016_07_04:HP:0012040|OMIM2016_04_17:MTHU024205|SNOMEDCT_US_2016_09_01:248505003|SNOMEDCT_US_2016_09_01:373430008 C1848533 Ataxia with vitamin e deficiency ATAXIA, FRIEDREICH-LIKE, WITH SELECTIVE VITAMIN E DEFICIENCY | AVED | Ataxia with isolated vitamin E deficiency | Ataxia with vitamin E deficiency | Ataxia with vitamin E deficiency (disorder) | Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency | FRIEDREICH-LIKE ATAXIA | Familial Isolated Vitamin E Deficiency | Familial isolated deficiency of vitamin E | Familial isolated vitamin E deficiency | Friedreich Ataxia Phenotype with Selective Vitamin E Deficiency | Friedreich ataxia phenotype with selective vitamin E deficiency | Friedreich-Like Ataxia | Friedreich-like ataxia | Friedreich-like ataxia with selective vitamin E deficiency | VED | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF | Vitamin E, Familial Isolated Deficiency of MSH2017_2016_08_12:C535393|OMIM2016_04_17:277460|SNOMEDCT_US_2016_09_01:702442008 C3151461 Lis4 LIS4 | LISSENCEPHALY 4 | LISSENCEPHALY 4, WITH MICROCEPHALY OMIM2016_04_17:609449|OMIM2016_04_17:614019 C2931279 Hoepffner dreyer reimers syndrome Hoepffner dreyer reimers syndrome | Peptide growth factors deficiency | Peptidic growth factors deficiency MSH2017_2016_08_12:C536656 C1852767 Hereditary macular coloboma AGENESIS OF MACULA | Agenesis of macula | COLOBOMA OF MACULA | Coloboma of macula | Hereditary macular coloboma | Macular coloboma HPO2016_07_04:A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. [DDD:gblack] HPO2016_07_04:HP:0001116|MSH2017_2016_08_12:C535968|OMIM2016_04_17:120300|OMIM2016_04_17:MTHU013748 C3494880 Convulsions in the newborn, non-refractory Convulsions in the newborn, non-refractory | Fits in the newborn, non-refractory | Neonatal convulsions, non-refractory | Neonatal seizures, non-intractable | Neonatal seizures, non-refractory | Seizures in the newborn, non-refractory | Seizures in the newborn, non-refractory (disorder) SNOMEDCT_US_2016_09_01:430871000124109 C3809899 Episodic pain syndrome, familial, 3 EPISODIC PAIN SYNDROME, FAMILIAL, 3 | Episodic Pain Syndrome, Familial, 3 | FEPS3 NCI2016_02D:A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age. OMIM2016_04_17:604385|OMIM2016_04_17:615552 C3809513 Aortic aneurysm, familial thoracic 8 AAT8 | AORTIC ANEURYSM, FAMILIAL THORACIC 8 OMIM2016_04_17:176894|OMIM2016_04_17:615436 C4280546 False denticles False denticles | False pulp stones HPO2016_07_04:HP:0003771 C1840013 Elevated 8-dehydrocholesterol Elevated 8-dehydrocholesterol HPO2016_07_04:HP:0003462|OMIM2016_04_17:MTHU007477 C1857226 Dk phocomelia syndrome DK PHOCOMELIA SYNDROME | DK Phocomelia Syndrome | PHOCOMELIA, THROMBOCYTOPENIA, ENCEPHALOCELE, UROGENITAL MALFORMATIONS | Phocomelia, Thrombocytopenia, Encephalocele, Urogenital Malformations | VON VOSS-CHERSTVOY SYNDROME | Von Voss-Cherstvoy Syndrome MSH2017_2016_08_12:C565618|OMIM2016_04_17:223340 C4025001 Short chordae tendineae of the tricuspid valve Short chordae tendineae of the tricuspid valve HPO2016_07_04:Abnormally short chordae tendineae of the tricuspid valve. [HPO:probinson] HPO2016_07_04:HP:0006692 C3281192 Infantile cerebellar-retinal degeneration ICRD | INFANTILE CEREBELLAR-RETINAL DEGENERATION OMIM2016_04_17:100850|OMIM2016_04_17:614559 C0751779 Action myoclonus-renal failure syndrome ACTION MYOCLONUS-RENAL FAILURE SYNDROME | AMRF | Action Myoclonus Renal Failure Syndrome | Action Myoclonus-Renal Failure Syndrome | EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE | EPM4 | MYOCLONUS-NEPHROPATHY SYNDROME | Myoclonus Nephropathy Syndrome | Myoclonus-Nephropathy Syndrome | Myoclonus-Nephropathy Syndromes | Syndrome, Myoclonus-Nephropathy | Syndromes, Myoclonus-Nephropathy MSH2017_2016_08_12:D020191|OMIM2016_04_17:254900|OMIM2016_04_17:602257 C1857130 Hypoplastic mandible condyle Hypoplastic mandible condyle HPO2016_07_04:HP:0000347|OMIM2016_04_17:MTHU013319 C0011993 Vipoma Diarrheogenic Islet Cell Tumor | Diarrheogenic Tumor | Diarrheogenic Tumors | Pancreatic VIPoma | Pancreatic VIPomas | Tumor, Diarrheogenic | Tumor, VIP-Secreting (VIPoma) | Tumors, Diarrheogenic | Tumors, VIP-Secreting (VIPoma) | VIP Producing Neoplasm | VIP Secreting Tumor (VIPoma) | VIP producing adenoma | VIP secreting adenoma | VIP- Secreting Neoplasm | VIP- Secreting Tumor | VIP-Producing NET | VIP-Producing Neuroendocrine Tumor | VIP-Secreting Tumor (VIPoma) | VIP-Secreting Tumors (VIPoma) | VIP-oma - Vasoactive intestinal peptide-secreting tumor | VIP-oma - Vasoactive intestinal peptide-secreting tumour | VIPOMA | VIPoma | VIPoma, Pancreatic | VIPomas, Pancreatic | Vasoactive Intestinal Peptide (VIP) Tumor | Vasoactive Intestinal Peptide Producing Neoplasm | Vasoactive Intestinal Peptide Producing Tumor | Vasoactive Intestinal Peptide Secreting Neoplasm | Vasoactive Intestinal Peptide-Producing Tumor | Vasoactive intestinal peptide-secreting tumor | Vasoactive intestinal peptide-secreting tumor (disorder) | Vasoactive intestinal peptide-secreting tumour | Vipoma | Vipoma (morphologic abnormality) | Vipoma [Disease/Finding] | Vipomas | [M] Vipoma | adenoma, pancreatic alpha-D islet cell | islet cell, alpha-D, pancreatic adenoma | pancreatic alpha-D islet cell adenoma | vasoactive intestinal peptide producing adenoma | vasoactive intestinal peptide secreting adenoma | vipoma | vipomas MSH2017_2016_08_12:A tumor that secretes VASOACTIVE INTESTINAL PEPTIDE, a neuropeptide that causes VASODILATION; relaxation of smooth muscles; watery DIARRHEA; HYPOKALEMIA; and HYPOCHLORHYDRIA. Vipomas, derived from the pancreatic ISLET CELLS, generally are malignant and can secrete other hormones. In most cases, Vipomas are located in the PANCREAS but can be found in extrapancreatic sites. | NCI2016_02D:An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances. MSH2017_2016_08_12:D003969|SNOMEDCT_US_2016_09_01:253005002|SNOMEDCT_US_2016_09_01:447643008 C0266456 Meningoencephalocele Encephalomeningocele | MENINGOENCEPHALOCELE | Meningoencephalocele | Meningoencephalocele (disorder) | encephalomeningocele | meningoencephalocele | meningoencephalocele (diagnosis) NCI2016_02D:A congenital neural tube closure defect resulting in the protrusion of the brain and meninges through a skull opening. | NCI2016_CDISC_1602D:Herniation of brain and meninges through a cranial opening. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) HPO2016_07_04:HP:0006888|SNOMEDCT_US_2016_09_01:204024002|SNOMEDCT_US_2016_09_01:52330001 C4025814 Abnormality of the metaphyses Abnormality of the metaphyses | Abnormality of the wide portion of a long bone HPO2016_07_04:An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. [HPO:probinson] HPO2016_07_04:HP:0000944 C1832942 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (disorder) JP/HHT SYNDROME | JPHHT Syndrome | JPHT | JPS/HHT | JPSHHT | JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME | JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) | Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia Syndrome | Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia | POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION | Polyposis, Generalized Juvenile, with Pulmonary Arteriovenous Malformation | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI | Telangiectasia, Hereditary Hemorrhagic, with Juvenile Polyposis Coli | juvenile polyposis / hemorrhagic telangiectasia syndrome | juvenile polyposis / hemorrhagic telangiectasia syndrome (diagnosis) MSH2017_2016_08_12:C563412|OMIM2016_04_17:175050|OMIM2016_04_17:600993 C0011616 Contact dermatitis CD - Contact dermatitis | CONTACT DEMATITIS | CONTACT DERMATITIS | Contact Dermatitides | Contact Dermatitis | Contact Eczema | Contact Sensitivities | Contact Sensitivity | Contact dematitis | Contact dermatitis | Contact dermatitis (disorder) | Contact dermatitis NOS | Contact dermatitis NOS (disorder) | Contact dermatitis syndrome | Contact dermatitis, NOS | Contact dermatitis/eczema | Contact eczema | DERMATITIS CONTACT | DERMATITIS VENENATA | DERMATITIS, CONTACT | Dermatitides, Contact | Dermatitis - contact | Dermatitis Venenata | Dermatitis contact | Dermatitis venenata | Dermatitis, Contact | Dermatitis, Contact [Disease/Finding] | Dermatitis, contact NOS | Dermatitis, venenata NOS | Dermatitis;contact | Eczema - contact | Eczema, Contact | Sensitivities, Contact | Sensitivity, Contact | Unspecified contact dermatitis | Unspecified contact dermatitis, unspecified cause | contact dermatitis | contact dermatitis (diagnosis) | contact eczema | contact sensitivity | contact; dermatitis | contact; eczema | dermatitis venenata | dermatitis venenata (diagnosis) | dermatitis; contact | eczema; contact CSP2006:type of acute or chronic skin reaction in which sensitivity is manifested by reactivity to materials or substances coming in contact with the skin; may involve allergic or non-allergic mechanisms. | MSH2017_2016_08_12:A type of acute or chronic skin reaction in which sensitivity is manifested by reactivity to materials or substances coming in contact with the skin. It may involve allergic or non-allergic mechanisms. | NCI2016_02D:An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen.(NICHD) | NCI2016_NICHD_1602D:An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen. | SCTSPA_2016_04_30:Patr贸n polim贸rfico de reacci贸n inflamatoria de la piel en respuesta al contacto con irritantes o al茅rgenos externos. | SNOMEDCT_US_2016_09_01:A polymorphic pattern of inflammatory reaction of the skin in response to contact with external irritants or allergens. ICD10CM_2017:L25|ICD10CM_2017:L25.9|MSH2017_2016_08_12:D003877|SNOMEDCT_US_2016_09_01:156338009|SNOMEDCT_US_2016_09_01:156348006|SNOMEDCT_US_2016_09_01:200780008|SNOMEDCT_US_2016_09_01:200883000|SNOMEDCT_US_2016_09_01:200889001|SNOMEDCT_US_2016_09_01:267842005|SNOMEDCT_US_2016_09_01:267846008|SNOMEDCT_US_2016_09_01:40275004 C4021884 Bilateral choanal atresia/stenosis Bilateral choanal atresia/stenosis HPO2016_07_04:HP:0200138 C3554344 Phosphohydroxylysinuria PHLU | PHOSPHOHYDROXYLYSINURIA OMIM2016_04_17:615011 C0276148 Non arthropod borne viral diseases of the central nervous system Non-arthrop CNS viral dis NOS | Non-arthropod-borne viral disease of the central nervous system | Non-arthropod-borne viral disease of the central nervous system (disorder) | Non-arthropod-borne viral disease of the central nervous system, NOS | Non-arthropod-borne viral diseases of CNS NOS | Non-arthropod-borne viral diseases of the central nervous system | Non-arthropod-borne viral diseases of the central nervous system NOS | Non-arthropod-borne viral diseases of the central nervous system NOS (disorder) | Nonarthropod-borne viral CNS infection | Unspecified non-arthropod-borne viral diseases of central nervous system | non-arthropod-borne viral disease of CNS | non-arthropod-borne viral disease of central nervous system | non-arthropod-borne viral disease of central nervous system (diagnosis) ICD9CM_2014:049.9|SNOMEDCT_US_2016_09_01:186503001|SNOMEDCT_US_2016_09_01:266098001|SNOMEDCT_US_2016_09_01:46322009 C0003952 Ascaridiasis Ascaridiases | Ascaridiasis | Ascaridiasis [Disease/Finding] | Ascaridiosis | Infection by Ascaridia | Infection by Ascaridia (disorder) | Infection by Ascaridia, NOS | Infection caused by Ascaridia | Infection caused by Ascaridia (disorder) MSH2017_2016_08_12:Infection with nematodes of the genus ASCARIDIA. This condition usually occurs in fowl, often manifesting diarrhea. MSH2017_2016_08_12:D001198|SNOMEDCT_US_2016_09_01:2435008|SNOMEDCT_US_2016_09_01:76160002 C1412397 Ancr gene ANCR | ANCR gene | ANGELMAN SYNDROME CHROMOSOME REGION | Angelman syndrome chromosome region OMIM2016_04_17:105830 C0265894 Aneurysm; aorta, congenital Congenital aneurysm of aorta | Congenital aneurysm of aorta (diagnosis) | Congenital aneurysm of aorta (disorder) | aneurysm; aorta, congenital | aorta; aneurysm, congenital | congenital anomaly of circulatory system aorta aneurysm ICD10CM_2017:Q25.43|SNOMEDCT_US_2016_09_01:16972009|SNOMEDCT_US_2016_09_01:204440006|SNOMEDCT_US_2016_09_01:268186001 C0041107 Trisomy Chromosomal Triplication | Chromosomal Triplications | Trisomies | Trisomy | Trisomy (morphologic abnormality) | Trisomy [Disease/Finding] | accessory; chromosome | syndrome; trisomy | trisomies | trisomy | trisomy (diagnosis) | trisomy; syndrome CHV2011_02:The condition of having three copies of a given chromosome or chromosome segment in a cell rather than the normal number of two | CSP2006:presence of an extra chromosome of one type in an otherwise diploid cell. | MSH2017_2016_08_12:The possession of a third chromosome of any one type in an otherwise diploid cell. | NCI2016_02D:A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. | NCI2016_NCI-GLOSS_1602D:The presence of an extra chromosome, resulting in a total of three copies of that chromosome instead of the normal 2 copies (e.g., trisomy 21, or Down syndrome). MSH2017_2016_08_12:D014314|SNOMEDCT_US_2016_09_01:78989007 C0018805 Heart injuries Heart Injuries | Heart Injuries [Disease/Finding] | Heart Injury | Heart injury | Heart injury NOS | Injuries, Heart | Injury of heart | Injury of heart (disorder) | Injury of heart, NOS | Injury of heart, unspecified | Injury, Heart | heart injuries | heart injury | heart injury (diagnosis) | heart; injury | injury heart | injury; heart MSH2017_2016_08_12:General or unspecified injuries to the heart. ICD10CM_2017:S26|MSH2017_2016_08_12:D006335|SNOMEDCT_US_2016_09_01:157333008|SNOMEDCT_US_2016_09_01:269341001|SNOMEDCT_US_2016_09_01:86175003 C0011581 Depressive disorder -- Depression | DEPRESSIVE DISORDER NOS | DEPRESSIVE DISORDERS | DEPRESSIVE NEUROSIS | Depression | Depressive Disorder | Depressive Disorder [Disease/Finding] | Depressive Disorders | Depressive Neuroses | Depressive Neurosis | Depressive disorder | Depressive disorder (disorder) | Depressive disorder NOS | Depressive disorder, NOS | Depressive disorders | Depressive illness | Depressive neurosis | Disorder, Depressive | Disorder;depressive | Disorders, Depressive | Mood disorder of depressed type | Mood disorder of depressed type (disorder) | Mood disorder with depressive feature | Neuroses, Depressive | Neurosis, Depressive | Neurosis, depressive | [X]Depressive disorder NOS | depression | depression (diagnosis) | depression nos | depression; behavioral disorder | depressive disorder | depressive illness | depressive neurosis | depressive; disorder | depressive; neurosis | disorder; depressive | neurosis; depressive HPO2016_07_04:A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure. [HPO:curators] | MSH2017_2016_08_12:An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent. HPO2016_07_04:HP:0000716|ICD10CM_2017:F32.9|ICD10CM_2017:F34.1|MSH2017_2016_08_12:D003866|SNOMEDCT_US_2016_09_01:192372006|SNOMEDCT_US_2016_09_01:21061000119107|SNOMEDCT_US_2016_09_01:35489007|SNOMEDCT_US_2016_09_01:78667006 C0278622 Adult neurofibrosarcoma Adult MPNST | Adult Malignant Neoplasm of Peripheral Nerve Sheath | Adult Malignant Neoplasm of the Peripheral Nerve Sheath | Adult Malignant Neurilemmoma | Adult Malignant Peripheral Nerve Sheath Neoplasm | Adult Malignant Peripheral Nerve Sheath Tumor | Adult Malignant Schwannoma | Adult Malignant Tumor of Peripheral Nerve Sheath | Adult Malignant Tumor of the Peripheral Nerve Sheath | adult neurofibrosarcoma | malignant neurolemma, adult | malignant schwannoma, adult | neurofibrosarcoma, adult | neurogenic sarcoma, adult | neurolemma, malignant, adult | sarcoma, neurofibro-, adult | sarcoma, neurogenic, adult | schwannoma, malignant, adult NCI2016_02D:A malignant peripheral nerve sheath tumor occurring during adulthood. C1853100 Cerebrooculofacioskeletal syndrome 4 CEREBROOCULOFACIOSKELETAL SYNDROME 4 | COFS4 | Cerebrooculofacioskeletal Syndrome 4 MSH2017_2016_08_12:C565184|OMIM2016_04_17:126380|OMIM2016_04_17:610758 C0334607 Psammomatous meningioma Meningioma, Psammomatous | Meningiomas, Psammomatous | Psammoma | Psammomatous Meningioma | Psammomatous Meningiomas | Psammomatous meningioma | Psammomatous meningioma (morphologic abnormality) | meningioma psammomatous | meningioma; psammomatous | psammoma | psammomas | psammomatous; meningioma NCI2016_02D:A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells. MSH2017_2016_08_12:D008579|SNOMEDCT_US_2016_09_01:38431002 C1832587 Polyposis syndrome, hereditary mixed, 1 CHROMOSOME 15q13-q14 DUPLICATION SYNDROME, 40-KB | COLORECTAL ADENOMA AND CARCINOMA 1 | CRAC1 | Colorectal Adenoma and Carcinoma 1 | HMPS1 | POLYPOSIS SYNDROME, HEREDITARY MIXED, 1 | Polyposis Syndrome, Hereditary Mixed, 1 MSH2017_2016_08_12:C563365|OMIM2016_04_17:601228 C0235081 Tremor, limb EXTREMITY TREMOR | Involuntary shaking of limb | Limb Tremor | Limb Tremors | Limb tremor | TREMOR LIMB | Tremor limb | Tremor of limbs | Tremor, Limb | Tremors, Limb HPO2016_07_04:HP:0200085|MSH2017_2016_08_12:D014202|OMIM2016_04_17:MTHU019556|OMIM2016_04_17:MTHU020788 C0042900 Vitiligo Blotchy loss of skin color | Hypopigmentation of skin | VITILIGO | Vitiligo | Vitiligo (disorder) | Vitiligo [Disease/Finding] | vitiligo | vitiligo (physical finding) CHV2011_02:A condition in which the skin turns white due to the loss of melanocytes | CSP2006:usually progressive, chronic pigmentary anomaly of the skin manifested by depigmented white patches that may be surrounded by a hyperpigmented border. | MEDLINEPLUS_20151021:Vitiligo causes white patches on your skin. It can also affect your eyes, mouth, and nose. It occurs when the cells that give your skin its color are destroyed. No one knows what destroys them. It is more common in people with autoimmune diseases, and it might run in families. It usually starts before age 40.
The white patches are more common where your skin is exposed to the sun. In some cases, the patches spread. Vitiligo can cause your hair to gray early. If you have dark skin, you may lose color inside your mouth.
Using sunscreen will help protect your skin, and cosmetics can cover up the patches. Treatments for vitiligo include medicines, light therapy, and surgery. Not every treatment is right for everyone. Many have side effects. Some take a long time. Some do not always work.
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
| MSH2017_2016_08_12:A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached. | NCI2016_02D:Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.(NICHD) | NCI2016_NICHD_1602D:Generalized well circumscribed patches of leukoderma that is generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes. HPO2016_07_04:HP:0001045|ICD10CM_2017:L80|ICD9CM_2014:709.01|MSH2017_2016_08_12:D014820|OMIM2016_04_17:MTHU012246|SNOMEDCT_US_2016_09_01:156437000|SNOMEDCT_US_2016_09_01:56727007 C4022018 Telangiectasia of the skin Telangiectasia of the skin | Teleangiectasia of the skin HPO2016_07_04:Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. [HPO:probinson] HPO2016_07_04:HP:0100585 C0206613 Paramyxoviridae infections DISEASES DUE TO PARAMYXOVIRIDAE | DISEASES DUE TO PARAMYXOVIRUS | Disease caused by Paramyxoviridae | Disease caused by Paramyxoviridae (disorder) | Disease due to Paramyxoviridae | Disease due to Paramyxoviridae (disorder) | Disease due to Paramyxovirus | Disease due to Paramyxovirus (disorder) | Disease due to Paramyxovirus, NOS | Disease due to paramyxovirus | Infection, Paramyxoviridae | Infections, Paramyxoviridae | Paramyxoviridae Infection | Paramyxoviridae Infections | Paramyxoviridae Infections [Disease/Finding] | Paramyxoviridae disease | Paramyxovirus infection | Paramyxovirus infection, NOS CSP2006:infection by members of the Paramyxoviridae family of spherical viruses, of the order Mononegavirales, somewhat larger than the orthomyxoviruses, and containing single stranded RNA. | MSH2017_2016_08_12:Infections with viruses of the family PARAMYXOVIRIDAE. This includes MORBILLIVIRUS INFECTIONS; RESPIROVIRUS INFECTIONS; PNEUMOVIRUS INFECTIONS; HENIPAVIRUS INFECTIONS; AVULAVIRUS INFECTIONS; and RUBULAVIRUS INFECTIONS. | MSHFRE2016:Infections par des virus de la famille des Paramyxoviridae. Elles incluent les infections par les morbillivirus, les respirovirus, les pneumovirus et les rubulavirus. MSH2017_2016_08_12:D018184|SNOMEDCT_US_2016_09_01:105631009|SNOMEDCT_US_2016_09_01:84118005 C0744333 Gastrointestinal polyps GASTROINTESTINAL POLYP | GI Polyp | Gastrointestinal Polyp | Gastrointestinal Tract Polyp | Gastrointestinal polyps | gastrointestinal polyp | gastrointestinal polyps NCI2016_02D:A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps. HPO2016_07_04:HP:0200008|OMIM2016_04_17:MTHU031335 C4014261 Spinocerebellar ataxia, autosomal recessive 16 SCAR16 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 OMIM2016_04_17:607207|OMIM2016_04_17:615768 C1862157 Proportionate shortening of all digits Proportionate shortening of all digits HPO2016_07_04:HP:0006165|OMIM2016_04_17:MTHU019289 C0344531 Embryotoxon Embryotoxon | Embryotoxon (disorder) | embryotoxon HPO2016_07_04:HP:0000627|SNOMEDCT_US_2016_09_01:253228006 C3280441 Vesicoureteral reflux 6 VESICOURETERAL REFLUX 6 | VUR6 OMIM2016_04_17:614319 C1858051 North american indian childhood cirrhosis NAIC | NAIC - North American Indian childhood cirrhosis | NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS | North American Indian Childhood Cirrhosis | North American Indian childhood cirrhosis | North American Indian childhood cirrhosis (disorder) SNOMEDCT_US_2016_09_01:Severe autosomal recessive intrahepatic cholestasis described in aboriginal children from northwestern Quebec. First manifestation as neonatal jaundice, progresses to periportal fibrosis and cirrhosis. MSH2017_2016_08_12:C565737|OMIM2016_04_17:604901|OMIM2016_04_17:607456|SNOMEDCT_US_2016_09_01:699189004 C1848934 Spondylocarpotarsal synostosis syndrome Congenital Scoliosis with Unilateral Unsegmented Bar | Congenital Synspondylism | Congenital scoliosis with unilateral unsegmented bar | Congenital synspondylism | SCOLIOSIS, CONGENITAL, WITH UNILATERAL UNSEGMENTED BAR | SCT | SCT Syndrome | SPONDYLOCARPOTARSAL SYNDROME | SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | SYNSPONDYLISM, CONGENITAL | Scoliosis, congenital, with unilateral unsegmented bar | Spondylocarpotarsal Syndrome | Spondylocarpotarsal synostosis | Spondylocarpotarsal synostosis syndrome | Spondylocarpotarsal synostosis syndrome (disorder) | Synspondylism, congenital | VERTEBRAL FUSION WITH CARPAL COALITION | Vertebral fusion with carpal coalition MSH2017_2016_08_12:C535780|OMIM2016_04_17:272460|OMIM2016_04_17:603381|SNOMEDCT_US_2016_09_01:702351004 C1859316 Cataract-alopecia-sclerodactyly syndrome CASS | CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME | Cataract, alopecia, sclerodactyly | Cataract, alopecia, sclerodactyly syndrome | Cataract-Alopecia-Sclerodactyly Syndrome | PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 2 | PPKCA, WALLIS TYPE | PPKCA2 MSH2017_2016_08_12:C535336|OMIM2016_04_17:212360 C1834345 Periosteal thickening of long tubular bones Periosteal thickening of long tubular bones HPO2016_07_04:Thickening of the periosteum of long bone. [HPO:probinson] HPO2016_07_04:HP:0006465|OMIM2016_04_17:MTHU016805 C0152099 Postcholecystectomy syndrome POSTCHOLECYSTECTOMY SYNDROME | Post Cholecystectomy Syndrome | Post cholecystectomy syndrome | Post-Cholecystectomy Syndrome | Post-Cholecystectomy Syndromes | Post-cholecystectomy syndrome | Postcholecystectomy Syndrome | Postcholecystectomy Syndrome [Disease/Finding] | Postcholecystectomy Syndromes | Postcholecystectomy syndrome | Postcholecystectomy syndrome (disorder) | Syndrome, Post-Cholecystectomy | Syndrome, Postcholecystectomy | Syndromes, Post-Cholecystectomy | Syndromes, Postcholecystectomy | post cholecystectomy | post cholecystectomy syndrome | post cholecystectomy syndrome (diagnosis) | post-cholecystectomy syndrome | postcholecystectomy syndrome | postcholecystectomy syndrome (diagnosis) | postcholecystectomy; syndrome | syndrome; postcholecystectomy MSH2017_2016_08_12:Abdominal symptoms after removal of the GALLBLADDER. The common postoperative symptoms are often the same as those present before the operation, such as COLIC, bloating, NAUSEA, and VOMITING. There is pain on palpation of the right upper quadrant and sometimes JAUNDICE. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal. ICD10CM_2017:K91.5|ICD9CM_2014:576.0|MSH2017_2016_08_12:D017562|SNOMEDCT_US_2016_09_01:90782003 C0012691 Dislocations DISLOCATED JOINT | DISLOCATION | DISLOCATIONS | Dislocated | Dislocated Joint | Dislocated joint | Dislocated joints | Dislocation | Dislocation (morphologic abnormality) | Dislocation of joint | Dislocation of joint (disorder) | Dislocation, Joint | Dislocation, NOS | Dislocation/subluxation | Dislocations | Dislocations [Disease/Finding] | Dislocations, Joint | Injury;dislocation;musculoske | JOINT DISLOCATION | Joint Dislocation | Joint Dislocations | Joint dislocation | Joint dislocations | Joint luxation | LUXATED | Recurrent joint dislocations | dislocated joint | dislocated joints | dislocation | dislocation of joint | dislocation of joint (diagnosis) | dislocations | joint dislocation | joint dislocations | joint luxation HPO2016_07_04:Displacement or malalignment of joints. [HPO:curators] | MEDLINEPLUS_20151021:Dislocations are joint injuries that force the ends of your bones out of position. The cause is often a fall or a blow, sometimes from playing a contact sport. You can dislocate your ankles, knees, shoulders, hips, elbows and jaw. You can also dislocate your finger and toe joints. Dislocated joints often are swollen, very painful and visibly out of place. You may not be able to move it.
A dislocated joint is an emergency. If you have one, seek medical attention. Treatment depends on which joint you dislocate and the severity of the injury. It might include manipulations to reposition your bones, medicine, a splint or sling, and rehabilitation. When properly repositioned, a joint will usually function and move normally again in a few weeks. Once you dislocate a shoulder or kneecap, you are more likely to dislocate it again. Wearing protective gear during sports may help prevent dislocations.
| MSH2017_2016_08_12:Displacement of bones from their normal positions at a joint. | NCI2016_02D:A displacement of a part (especially a bone) from its normal position.(WordNet) | NCI2016_CDISC_1602D:A displacement of a bone from its normal position in the joint. HPO2016_07_04:HP:0001373|ICD9CM_2014:830-839.99|MSH2017_2016_08_12:D004204|OMIM2016_04_17:MTHU002159|OMIM2016_04_17:MTHU009281|OMIM2016_04_17:MTHU026194|OMIM2016_04_17:MTHU033465|SNOMEDCT_US_2016_09_01:108367008|SNOMEDCT_US_2016_09_01:157257005|SNOMEDCT_US_2016_09_01:269324003|SNOMEDCT_US_2016_09_01:87642003 C1846434 Hypoplastic scapulae Hypoplastic scapula | Hypoplastic scapulae | Scapular hypoplasia | Short scapulae | Small scapula | Small scapulae | Small shoulder blade HPO2016_07_04:Underdeveloped scapula. [HPO:probinson] HPO2016_07_04:HP:0000882|OMIM2016_04_17:MTHU003183|OMIM2016_04_17:MTHU003434|OMIM2016_04_17:MTHU011305|OMIM2016_04_17:MTHU015663 C4020971 Abnormality of lower limb joint Abnormality of lower limb joint | Abnormality of the joints of the lower limbs HPO2016_07_04:HP:0100491 C1568249 Usher syndrome, type ii USH2D | USHER SYNDROME, TYPE IID | Usher Syndrome, Type II | Usher Syndrome, Type IId MSH2017_2016_08_12:D052245|OMIM2016_04_17:607928|OMIM2016_04_17:611383 C0342871 Acyl-coa oxidase deficiency Acyl-CoA oxidase deficiency | Acyl-CoA oxidase deficiency (disorder) | Acyl-coenzyme A oxidase deficiency | Acyl-coenzyme A oxidase deficiency (disorder) | Pseudo-neonatal adrenoleucodystrophy SNOMEDCT_US_2016_09_01:238069004 C3161650 Primary immunoglobulin a nephropathy (disorder) Focal glomerulonephritis | Primary IgA nephropathy | Primary IgA nephropathy (diagnosis) | Primary IgA nephropathy (disorder) | Primary immunoglobulin A nephropathy | Primary immunoglobulin A nephropathy (disorder) | primary IgA nephritis | primary IgA nephritis (diagnosis) SNOMEDCT_US_2016_09_01:68779003 C0270841 Simple partial seizures evolving to complex partial seizures, then to generalized tonic-clonic seizures Simp part seiz evolv complex part seizure evolv to gen seiz | Simp part seiz evolv complex part seizure evolv to gen seiz (disorder) | Simp part seiz evolv complex part seizure evolv to gen seiz (finding) | Simple partial seizure evolving to complex partial seizure evolving to generalised seizure | Simple partial seizure evolving to complex partial seizure evolving to generalized seizure | Simple partial seizure evolving to generalised seizure | Simple partial seizure evolving to generalized seizure | Simple partial seizure evolving to generalized seizure (disorder) | Simple partial seizures evolving to complex partial seizures, then to generalized tonic-clonic seizures SNOMEDCT_US_2016_09_01:61484000 C0012819 Diverticular disease of colon COLON NOS DIVERTICULAR DISEASE | COLON NOS DIVERTICULOSIS | COLON, DIVERTICULOSIS | COLONIC DIVERTICULAR DISEASE | Colonic Diverticulosis | Colonic diverticula | Colonic diverticulosis | Diverticular Disease of Colon | Diverticular disease of colon | Diverticular disease of colon (disorder) | Diverticular disease of colon NOS | Diverticular disease of the colon | Diverticulosis of Colon | Diverticulosis of colon | Diverticulosis of the colon | Diverticulosis, Colonic | Diverticulosis, Colonic [Disease/Finding] | colon disease diverticular | colon diverticular disease | colon diverticulosis | colonic diverticulosis | colonic diverticulosis (diagnosis) | diverticular disease colon | diverticulosis colon | diverticulosis of colon CSP2006:presence of multiple herniations of the mucosa and submucosa of the colon through the circular muscle layer. | HPO2016_07_04:The presence of multiple diverticula of the colon. [HPO:probinson] | MSH2017_2016_08_12:A pathological condition characterized by the presence of a number of COLONIC DIVERTICULA in the COLON. Its pathogenesis is multifactorial, including colon aging, motor dysfunction, increases in intraluminal pressure, and lack of dietary fibers. HPO2016_07_04:HP:0002253|ICD10CM_2017:K57.30|MSH2017_2016_08_12:D043963|OMIM2016_04_17:MTHU016734|SNOMEDCT_US_2016_09_01:398050005|SNOMEDCT_US_2016_09_01:68047000 C1527258 Infantile paralysis INFANTILE PARALYSIS | Infantile Paralysis | Infantile paralysis | Infantile paralysis (disorder) | Infantile paralysis, NOS | Infantile paralytic paralysis | Infantile paralytic paralysis (disorder) | Paralysis (Infantile) | Paralysis, Infantile | infantile paralysis | infantile; paralysis | paralysis; infantile MSH2017_2016_08_12:D011051|SNOMEDCT_US_2016_09_01:170852008|SNOMEDCT_US_2016_09_01:186475007|SNOMEDCT_US_2016_09_01:3408007|SNOMEDCT_US_2016_09_01:397928009|SNOMEDCT_US_2016_09_01:54839009 C3810365 Central visual impairment Central Visual Impairment | Central visual impairment | Central visual impairment (disorder) | Cerebral Visual Impairment | Cerebral visual impairment NCI2016_02D:Visual impairment due to central nervous system dysfunction. | NCI2016_NICHD_1602D:Visual impairment due to central nervous system dysfunction. OMIM2016_04_17:MTHU045018|OMIM2016_04_17:MTHU045688|SNOMEDCT_US_2016_09_01:432141000124105 C1963282 Wolff-parkinson-white syndrome adverse event Wolff-Parkinson-White Syndrome | Wolff-Parkinson-White Syndrome Adverse Event C1334577 Malignant eccrine neoplasm Malignant Eccrine Neoplasm | Malignant Eccrine Neoplasm of Skin | Malignant Eccrine Neoplasm of the Skin | Malignant Eccrine Skin Neoplasm | Malignant Eccrine Skin Tumor | Malignant Eccrine Tumor | Malignant Eccrine Tumor of Skin | Malignant Eccrine Tumor of the Skin C2931795 Chromosome 11, deletion 11p Chromosome 11, deletion 11p | Deletion 11p | Loss of Chromosome 11p | Monosomy 11p | del(11p) MSH2017_2016_08_12:C538293 C2750474 Spondyloarthropathy, susceptibility to, 3 SPDA3 | SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 3 OMIM2016_04_17:613238 C0432209 Dyssegmental dysplasia, rolland-desbuquois type ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, ROLLAND-DESBUQUOIS TYPE | Anisospondylic camptomicromelic dwarfism, Rolland-Desbuquois type | DDRD | DYSSEGMENTAL DWARFISM, ROLLAND-DESBUQUOIS TYPE | DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE | Dyssegmental dwarfism, Rolland-Desbuquois type | Dyssegmental dysplasia - Rolland-Desbuquois type | Dyssegmental dysplasia, Rolland-Desbuquois type | Rolland-Debuqois syndrome | Rolland-Debuqois syndrome (disorder) MSH2017_2016_08_12:C537999|OMIM2016_04_17:224400|SNOMEDCT_US_2016_09_01:95243004 C1861194 Thrombasthenia-thrombocytopenia, hereditary BDPLT17 | BLEEDING DISORDER, PLATELET-TYPE, 17 | THROMBASTHENIA-THROMBOCYTOPENIA, HEREDITARY | Thrombasthenia-Thrombocytopenia, Hereditary MSH2017_2016_08_12:C566060|OMIM2016_04_17:187900|OMIM2016_04_17:604383 C0268120 Adenine phosphoribosyltransferase deficiency ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY | APRT DEFICIENCY | APRT Deficiency | APRT deficiency | APRTD | Adenine Phosphoribosyltransferase Deficiency | Adenine phosphoribosyl transferase deficiency | Adenine phosphoribosyltransferase deficiency | Adenine phosphoribosyltransferase deficiency (disorder) | Deficiency of AMP pyrophorylase | Deficiency of adenine phosphoribosyltransferase | Deficiency of adenine phosphoribosyltransferase (disorder) | Deficiency of transphosphoribosidase NCI2016_02D:An inherited condition caused by mutations in the APRT gene that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones. MSH2017_2016_08_12:C538228|OMIM2016_04_17:102600|OMIM2016_04_17:614723|SNOMEDCT_US_2016_09_01:11852004|SNOMEDCT_US_2016_09_01:124274002 C3863028 Left trigeminal neuralgia Left trigeminal neuralgia | Left trigeminal neuralgia (disorder) | left trigeminal neuralgia | left trigeminal neuralgia (diagnosis) | trigeminal neuralgia left SNOMEDCT_US_2016_09_01:12242071000119103 C1723764 Chronic prostatitis with chronic pelvic pain syndrome Chronic Prostatitis with Chronic Pelvic Pain Syndrome | Chronic prostatitis - chronic pelvic pain syndrome | Chronic prostatitis - chronic pelvic pain syndrome (disorder) | prostatitis chronic - chronic pelvic pain syndrome | prostatitis chronic - chronic pelvic pain syndrome (diagnosis) MSH2017_2016_08_12:D011472|SNOMEDCT_US_2016_09_01:426135001 C1842381 Deafness, autosomal recessive 38 DEAFNESS, AUTOSOMAL RECESSIVE 38 | DFNB38 | Deafness, Autosomal Recessive 38 MSH2017_2016_08_12:C564273|OMIM2016_04_17:608219 C0266345 Congenital urethral valve Congenital urethral valve | Congenital urethral valve (disorder) | Urethral valve | Urethral valve formation | Urethral valve formation (disorder) | Urethral valve formation (disorder) [Ambiguous] | Urethral valves | urethra; valve | urethral valve | urethral valves | valve; urethra HPO2016_07_04:The presence of an abnormal membrane obstructing the urethra. [HPO:probinson] HPO2016_07_04:HP:0010481|OMIM2016_04_17:MTHU019489|SNOMEDCT_US_2016_09_01:297163001|SNOMEDCT_US_2016_09_01:77094006 C2987139 Pancreatic well differentiated ductal adenocarcinoma Pancreatic Well Differentiated Ductal Adenocarcinoma | Pancreatic Well-Differentiated Ductal Adenocarcinoma NCI2016_02D:A pancreatic ductal adenocarcinoma characterized by the presence of duct-like structures and medium-sized malignant glandular structures. C4015080 Microcephaly 13, primary, autosomal recessive MCPH13 | MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE OMIM2016_04_17:616051 C4072848 Hypermineralization of skull base HyperMineralization of skull base HPO2016_07_04:HP:0002694 C3810451 Increased corneal thickness Increased corneal thickness HPO2016_07_04:A increased anteroposterior thickness of the cornea. [HPO:probinson] HPO2016_07_04:HP:0011487|OMIM2016_04_17:MTHU042986 C0025427 Mercury poisoning Hydrargyria | Hydrargyrism | Hydrargyrosis | MERCURIALISM | Mercurialism | Mercury Poisoning | Mercury Poisoning [Disease/Finding] | Mercury Poisonings | Mercury causing toxic effect | Mercury compound poisoning | Mercury compound poisoning (disorder) | Mercury or mercury compound causing toxic effect | Mercury poisoning | Mercury poisoning syndrome | Poisoning by compounds of mercury | Poisoning, Mercury | Poisonings, Mercury | Toxic effect of mercury AND/OR its compounds | Toxic effect of mercury AND/OR its compounds (disorder) | Toxic effect of mercury and its compounds | Toxic effect of mercury and its compounds, NOS | Toxic effects of mercury and its compounds | Toxic effects of mercury and its compounds NOS | hydrargyrism | mercurialism | mercury poison | mercury poisoning | mercury poisons | poisoning by mercury | poisoning by mercury (diagnosis) | poisoning mercury CSP2006:acute or chronic disease produced by exposure to mercury or toxic mercury compounds. | MSH2017_2016_08_12:Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of MERCURY or MERCURY COMPOUNDS. ICD10CM_2017:T56.1|ICD10CM_2017:T56.1X|ICD10CM_2017:T56.1X1|ICD9CM_2014:985.0|MSH2017_2016_08_12:D008630|SNOMEDCT_US_2016_09_01:212520008|SNOMEDCT_US_2016_09_01:212844002|SNOMEDCT_US_2016_09_01:85180002 C1332917 Cervical carcinosarcoma Cervical Carcinosarcoma | Cervical Malignant Mixed Mesodermal (Mullerian) Tumor | Cervical Malignant Mixed Mesodermal (M眉llerian) Tumor NCI2016_02D:An aggressive malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant epithelial elements and malignant mesenchymal elements. C0278196 Seizure, startle, partial Seizure, startle, partial | Startle partial seizure | Startle partial seizure (finding) SNOMEDCT_US_2016_09_01:53482009 C2931139 Nondystrophic myotonia Nondystrophic myotonia MSH2017_2016_08_12:C536245 C3251797 Midborderline leprosy BB - Borderline leprosy | Midborderline leprosy | Midborderline leprosy (disorder) | Type BB leprosy SNOMEDCT_US_2016_09_01:400154003|SNOMEDCT_US_2016_09_01:50521002 C0393665 Multiple sclerosis, chronic progressive Chronic Progressive Multiple Sclerosis | Chronic progressive multiple sclerosis | Chronic progressive multiple sclerosis (disorder) | Multiple Sclerosis, Chronic Progressive | Multiple Sclerosis, Chronic Progressive [Disease/Finding] | Multiple sclerosis (MS) chronic/progressive MSH2017_2016_08_12:A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914) MSH2017_2016_08_12:D020528|SNOMEDCT_US_2016_09_01:230373008 C3150619 Neuronopathy, distal hereditary motor, type iic DHMN2C | HMN IIC | HMN2C | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC | NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC OMIM2016_04_17:613376 C0007177 Cardiac tamponade CARDIAC TAMPONADE | Cardiac Tamponade | Cardiac Tamponade [Disease/Finding] | Cardiac Tamponades | Cardiac tamponade | Cardiac tamponade (disorder) | HEART TAMPONADE | HEART, TAMPONADE | PERICARDIAL TAMPONADE | Pericardial Tamponade | Pericardial Tamponades | Pericardial tamponade | Rose's tamponade | TAMPONADE CARDIAC | Tamponade cardiac | Tamponade, Cardiac | Tamponade, Pericardial | Tamponade, cardiac | Tamponades, Cardiac | Tamponades, Pericardial | cardiac tamponade | cardiac tamponade (diagnosis) | heart tamponade | pericardial tamponade | tamponade cardiac | tamponade; cardiac CSP2006:compression of heart from pericardial effusion or hemopericardium. | MSH2017_2016_08_12:Compression of the heart by accumulated fluid (PERICARDIAL EFFUSION) or blood (HEMOPERICARDIUM) in the PERICARDIUM surrounding the heart. The affected cardiac functions and CARDIAC OUTPUT can range from minimal to total hemodynamic collapse. | NCI2016_02D:Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion. | NCI2016_CTCAE_1602D:A disorder characterized by an increase in intrapericardial pressure due to the collection of blood or fluid in the pericardium. | NCI2016_FDA_1602D:Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion. | NCI2016_NICHD_1602D:Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium. ICD10CM_2017:I31.4|ICD9CM_2014:423.3|MSH2017_2016_08_12:D002305|SNOMEDCT_US_2016_09_01:155341007|SNOMEDCT_US_2016_09_01:194975004|SNOMEDCT_US_2016_09_01:266295005|SNOMEDCT_US_2016_09_01:35304003 C0339510 Vitelliform macular dystrophy BEST MACULAR DYSTROPHY | BMD | Best | Best Disease | Best Macular Dystrophy | Best Vitelliform Macular Dystrophy | Best's Disease | Best's disease | Best's disease (diagnosis) | Disease, Best | Disease, Best's | Dystrophies, Vitelliform Macular | Dystrophy, Best Macular | Dystrophy, Vitelliform Macular | MACULAR DEGENERATION, POLYMORPHIC VITELLINE | MACULAR DYSTROPHY, VITELLIFORM, 2 | Macular Degeneration, Polymorphic Vitelline | Macular Dystrophies, Vitelliform | Macular Dystrophy, Best | Macular Dystrophy, Vitelliform | VMD2 | Vitelliform Dystrophy | Vitelliform Macular Dystrophies | Vitelliform Macular Dystrophy | Vitelliform Macular Dystrophy [Disease/Finding] | Vitelliform dystrophy | Vitelliform dystrophy (disorder) | Vitelliform macular dystrophy | best's disease | vitelliform dystrophy | vitelliform dystrophy (diagnosis) | vitelliform macular dystrophy MSH2017_2016_08_12:Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel. | MSHNOR2016:Autosomalt dominant arvelig makulasykdom hos barn, med opphopning av fettsalter (LIPOFUSCIN) i netthinnens pigmentepitel (NETTHINNEPIGMENTEPITEL). Affiserte personer utvikler progressivt sentralt synstap og skjeve synsbilder (SYNSFORSTYRRELSER). | NCI2016_02D:A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision. It may be of early onset, autosomal dominant inherited and caused by mutations in the BEST1 gene (BEST disease) or late onset, caused by mutations in the PRPH2 gene. HPO2016_07_04:HP:0007677|MSH2017_2016_08_12:D057826|OMIM2016_04_17:153700|OMIM2016_04_17:607854|SNOMEDCT_US_2016_09_01:90036004 C0006287 Bronchopulmonary dysplasia BPD | BPD - Bronchopulmonary dysplasia | BRONCHOPULMONARY DYSPLASIA | Bronchopulmonary Dysplasia | Bronchopulmonary Dysplasia [Disease/Finding] | Bronchopulmonary dysplasia | Bronchopulmonary dysplasia of newborn | Bronchopulmonary dysplasia of newborn (disorder) | Chronic lung disease of prematurity | Dysplasia, Bronchopulmonary | Perinatal bronchopulmonary dysplasia | Ventilator lung in newborn | bronchopulmonary dysplasia | bronchopulmonary dysplasia (BPD) | bronchopulmonary dysplasia of fetus or newborn | bronchopulmonary dysplasia of fetus or newborn (diagnosis) | bronchopulmonary; dysplasia | chronic lung disease of babies | dysplasia; bronchopulmonary | ventilator lung; newborn CSP2006:chronic lung disease of infants, possibly related to oxygen toxicity or barotrauma, characterized by bronchiolar metaplasia and interstitial fibrosis. | MSH2017_2016_08_12:A chronic lung disease developed after OXYGEN INHALATION THERAPY or mechanical ventilation (VENTILATION, MECHANICAL) usually occurring in certain premature infants (INFANT, PREMATURE) or newborn infants with respiratory distress syndrome (RESPIRATORY DISTRESS SYNDROME, NEWBORN). Histologically, it is characterized by the unusual abnormalities of the bronchioles, such as METAPLASIA, decrease in alveolar number, and formation of CYSTS. | NCI2016_02D:Chronic lung disease requiring treatment with oxygen for at least 28 days and with a spectrum of severity from mild to severe, that predominantly affects premature infants. While the radiologic pattern is typical in the closer to term patient, the pattern in the small preterm infant is very non-discrete and variable.(NICHD) | NCI2016_NICHD_1602D:A chronic lung disorder associated with pulmonary maldevelopment, scarring, and/or inflammation that develops in preterm neonates. The condition is defined based on treatment with supplemental oxygen for at least 28 days adjusted for the degree of prematurity. ICD10CM_2017:P27.8|MSH2017_2016_08_12:D001997|SNOMEDCT_US_2016_09_01:67569000 C0796028 Ataxia, fatal x-linked, with deafness and loss of vision ARTS | ARTS SYNDROME | ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION | Arts syndrome | Ataxia, Fatal X-Linked, with Deafness and Loss of Vision | Ataxia-Deafness-Optic Atrophy, Lethal | Fatal x-linked ataxia with deafness and loss of vision | Fatal x-linked ataxia with deafness and loss of vision (disorder) | Lethal ataxia-deafness-optic atrophy | MENTAL RETARDATION, X-LINKED, SYNDROMIC 18 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | MRXS18 | MRXSARTS | X-linked fatal ataxia with deafness and loss of vision JABL99:A disorder marked by an early onset floppiness, ataxia, liability to infection, deafness, blindness, tetraplegia and areflexia. MSH2017_2016_08_12:C535388|OMIM2016_04_17:301835|OMIM2016_04_17:311850|SNOMEDCT_US_2016_09_01:702441001 C1302853 Squamous cell carcinoma - category Squamous cell carcinoma | Squamous cell carcinoma - category | Squamous cell carcinoma - category (morphologic abnormality) SNOMEDCT_US_2016_09_01:400155002 C2217037 Stage iiia colon cancer Stage IIIA Colon Cancer | Stage IIIA Colon Cancer AJCC v7 | colon cancer stage IIIa | malignant neoplasm of large intestine stage IIIa | malignant neoplasm of large intestine stage IIIa (diagnosis) | malignant tumor of large intestine stage IIIa NCI2016_02D:Stage IIIA includes: (T1-T2, N1/N1c, M0); (T1, N2a, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. N1: Metastasis in 1-3 regional lymph nodes. N1c: Tumor deposit(s) in the subserosa, mesentery, or nonperitonealized pericolic or perirectal tissues without regional lymph node metastasis. N2a: Metastasis in 4-6 regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.) C3279664 Emberger syndrome Deafness - lymphoedema - leukemia syndrome | EMBERGER SYNDROME | Emberger syndrome | Emberger syndrome (disorder) | LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA OMIM2016_04_17:137295|OMIM2016_04_17:614038|SNOMEDCT_US_2016_09_01:700057001 C1833541 Caroli disease isolated CAROLI DISEASE, ISOLATED | Caroli Disease, Isolated | Caroli disease isolated | Congenital polycystic dilatation of intrahepatic bile ducts | Cystic dilatation of the intrahepatic biliary tree MSH2017_2016_08_12:C531647|OMIM2016_04_17:600643 C1335307 Lymphoma of pancreas Lymphoma of Pancreas | Lymphoma of the Pancreas | Pancreatic Lymphoma | malignant lymphoma of pancreatic lymph nodes | malignant lymphoma of pancreatic lymph nodes (diagnosis) | pancreatic lymphoma NCI2016_02D:A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas. C3661744 Simple partial seizure with motor dysfunction, non-intractable Simple partial seizure with motor dysfunction, non-intractable | Simple partial seizure with motor dysfunction, non-refractory | Simple partial seizure with motor dysfunction, non-refractory (disorder) SNOMEDCT_US_2016_09_01:436611000124103 C1860711 Pitted dental enamel Dental enamel pits | Dental enamel pitting | Pitted dental enamel | Pitting of tooth enamel | TOOTH ENAMEL PITTING | Tooth enamel pits HPO2016_07_04:The presence of small depressions in the dental enamel. [HPO:curators] HPO2016_07_04:HP:0009722|OMIM2016_04_17:MTHU015151 C1290611 Chronic digestive system disorder Chronic digestive system disorder | Chronic digestive system disorder (disorder) | Chronic disease of digestive system | Chronic disorder of digestive system SNOMEDCT_US_2016_09_01:128284006 C0004998 Benign neoplasm of skin BENIGN SKIN NEOPLASM | Benign Cutaneous Neoplasm | Benign Cutaneous Tumor | Benign Neoplasm of Skin | Benign Neoplasm of the Skin | Benign Skin Neoplasm | Benign Skin Tumor | Benign Tumor of Skin | Benign Tumor of the Skin | Benign neoplasm of skin | Benign neoplasm of skin (disorder) | Benign neoplasm of skin NOS | Benign neoplasm of skin NOS (disorder) | Benign neoplasm of skin, NOS | Benign neoplasm of skin, site unspecified | Benign skin neoplasm NOS | Benign tumor of skin | Benign tumour of skin | Cutaneous neoplasms benign | Neoplasm benign;skin | SKIN BENIGN NEOPLASM | Skin Neoplasms, Benign | Skin benign neoplasm | Skin neoplasms benign | benign neoplasm of skin | benign neoplasm of skin (diagnosis) | benign neoplasm of the skin | benign of skin tumors | benign skin neoplasm | benign skin tumor | benign skin tumors | benign tumor of skin NCI2016_02D:Abnormal growth of the cells that comprise the tissues of the skin, without any evidence of malignancy. ICD9CM_2014:216|ICD9CM_2014:216.9|SNOMEDCT_US_2016_09_01:189051001|SNOMEDCT_US_2016_09_01:189101008|SNOMEDCT_US_2016_09_01:92384009 C0085693 Acute appendicitis nos (disorder) APPENDICITIS ACUTE | APPENDICITIS, ACUTE | Acute Appendicitis | Acute appendicitis | Acute appendicitis (disorder) | Acute appendicitis NOS | Acute appendicitis NOS (disorder) | Acute appendicitis, NOS | Acute appendicitis, unspecified | Acute appendicitis; not otherwise specified | Appendicitis;acute | Unspecified acute appendicitis | acute appendicitis | acute appendicitis (diagnosis) | acute inflamed appendicitis | acute inflamed appendicitis (diagnosis) | acute; appendicitis | appendicitis acute | appendicitis; acute | inflamed acute appendicitis ICD10CM_2017:K35|ICD10CM_2017:K35.80|ICD9CM_2014:540|SNOMEDCT_US_2016_09_01:155732000|SNOMEDCT_US_2016_09_01:196784009|SNOMEDCT_US_2016_09_01:85189001 C0346811 Malignant dermal neoplasm Malignant Dermal Neoplasm | Malignant Dermis Neoplasm | Malignant Dermis Tumor | Malignant Neoplasm of Dermis | Malignant Neoplasm of the Dermis | Malignant Tumor of Dermis | Malignant Tumor of the Dermis | Malignant tumor of dermis | Malignant tumor of dermis (disorder) | Malignant tumour of dermis | malignant neoplasm of dermis | malignant neoplasm of dermis (diagnosis) | skin neoplasm malignant dermis SNOMEDCT_US_2016_09_01:255096006 C0023467 Leukemia, myelocytic, acute ACUTE MYELOBLASTIC LEUKEMIA | ACUTE MYELOGENOUS LEUKEMIA | AML | AML (acute myelogenous leukemia) | AML - Acute Myeloid Leukemia | AML - Acute myeloblastic leukaemia | AML - Acute myeloblastic leukemia | AML - Acute myeloid leukaemia | AML - Acute myeloid leukemia | AML, NOS | ANLL | Acute Granulocytic Leukemia | Acute Megakaryocytic Leukemia | Acute Myeloblastic Leukemia | Acute Myeloblastic Leukemias | Acute Myelocytic Leukemia | Acute Myelocytic Leukemias | Acute Myelogenous Leukemia | Acute Myelogenous Leukemias | Acute Myeloid Leukemia | Acute Myeloid Leukemia NOS | Acute Myeloid Leukemia Not Otherwise Categorized | Acute Myeloid Leukemia Not Otherwise Specified | Acute Myeloid Leukemia, NOS | Acute Myeloid Leukemias | Acute Nonlymphoblastic Leukemia | Acute Nonlymphoblastic Leukemias | Acute Nonlymphocytic Leukemia | Acute Nonlymphocytic Leukemias | Acute granulocytic leukaemia | Acute granulocytic leukemia | Acute megakaryocytic leukemia | Acute myeloblastic leukaemia | Acute myeloblastic leukemia | Acute myeloblastic leukemia (disorder) | Acute myeloblastic leukemia NOS | Acute myelocytic leukaemia | Acute myelocytic leukemia | Acute myelogenous leukaemia | Acute myelogenous leukemia | Acute myeloid leukaemia | Acute myeloid leukaemia - category | Acute myeloid leukaemia NOS | Acute myeloid leukaemia, disease | Acute myeloid leukaemia, no ICD-O subtype | Acute myeloid leukemia | Acute myeloid leukemia - category | Acute myeloid leukemia - category (morphologic abnormality) | Acute myeloid leukemia NOS | Acute myeloid leukemia, NOS | Acute myeloid leukemia, disease | Acute myeloid leukemia, disease (disorder) | Acute myeloid leukemia, no ICD-O subtype | Acute myeloid leukemia, no ICD-O subtype (morphologic abnormality) | Acute myeloid leukemia, no International Classification of Diseases for Oncology subtype | Acute myeloid leukemia, no International Classification of Diseases for Oncology subtype (morphologic abnormality) | Acute non-lymphocytic leukaemia | Acute non-lymphocytic leukemia | Hematopoeitic - Acute Myleogenous Leukemia (AML) | LEUKEMIA ACUTE MYELOBLASTIC | LEUKEMIA ACUTE MYELOGENOUS | LEUKEMIA MYELOBLASTIC ACUTE | LEUKEMIA, ACUTE MYELOGENOUS | LEUKEMIA, ACUTE MYELOID | LEUKEMIA, GRANULOCYTIC, ACUTE | LEUKEMIA, MYELOBLASTIC, ACUTE | LEUKEMIA, MYELOCYTIC, ACUTE | LEUKEMIA, MYELOGENOUS, ACUTE | LEUKEMIA, MYELOID, ACUTE | Leukaemia myeloblastic acute | Leukaemia;acute myeloid | Leukaemias acute myeloid | Leukemia myeloblastic acute | Leukemia, Acute Myeloblastic | Leukemia, Acute Myelocytic | Leukemia, Acute Myelogenous | Leukemia, Acute Myeloid | Leukemia, Acute Nonlymphoblastic | Leukemia, Acute Nonlymphocytic | Leukemia, Myeloblastic, Acute | Leukemia, Myelocytic, Acute | Leukemia, Myelogenous, Acute | Leukemia, Myeloid, Acute | Leukemia, Myeloid, Acute [Disease/Finding] | Leukemia, Nonlymphoblastic, Acute | Leukemia, Nonlymphocytic, Acute | Leukemia, acute myeloid | Leukemias acute myeloid | Leukemias, Acute Myeloblastic | Leukemias, Acute Myelocytic | Leukemias, Acute Myelogenous | Leukemias, Acute Myeloid | Leukemias, Acute Nonlymphoblastic | Leukemias, Acute Nonlymphocytic | Myeloblastic Leukemia, Acute | Myeloblastic Leukemias, Acute | Myelocytic Leukemia, Acute | Myelocytic Leukemias, Acute | Myelogenous Leukemia, Acute | Myelogenous Leukemias, Acute | Myeloid Leukemia, Acute | Myeloid Leukemias, Acute | Myeloid leukaemia, acute | Myeloid leukemia, acute | Non-lymphoblastic leukaemia acute | Non-lymphoblastic leukemia acute | Nonlymphoblastic Leukemia, Acute | Nonlymphoblastic Leukemias, Acute | Nonlymphocytic Leukemia, Acute | Nonlymphocytic Leukemias, Acute | [M]Acute myeloid leukaemia | [M]Acute myeloid leukaemia (disorder) | [M]Acute myeloid leukemia | acute granulocytic leukemia | acute leukemias non lymphoblastic | acute myeloblastic leukemia | acute myeloblastic leukemia (diagnosis) | acute myelocytic leukaemia | acute myelocytic leukemia | acute myelogenous leukaemia | acute myelogenous leukemia | acute myelogenous leukemia (AML) | acute myelogenous leukemia (diagnosis) | acute myeloid leukaemia | acute myeloid leukemia | acute myeloid leukemias | acute non-lymphoblastic leukemia | acute non-lymphocytic leukemia | acute nonlymphoblastic leukemia | acute nonlymphocytic leukemia | acute nonlymphocytic leukemia (ANLL) | aml | anll | granulocytic; leukemia, acute | leukemia acute myeloblastic | leukemia, acute myeloid | leukemia, acute nonlymphocytic | leukemia; granulocytic, acute | leukemia; myelocytic, acute | leukemia; myeloid, acute | myelocytic; leukemia, acute | myeloid; leukemia, acute | non-lymphoblastic leukemia acute CSP2006:acute leukemia arising from myeloid tissue in which the granular, polymorphonuclear leukocytes and their precursors predominate. | CSP2006:leukemia commonly occurring after alkylating agent treatment; manifestations include pancytopenia, megaloblastic bone marrow, and nucleated red cells in peripheral marrow; patients usually have chromosomal abnormalities in marrow cells. | HPO2016_07_04:A form of leukemia characterized by overproduction of an early myeloid cell. [HPO:probinson] | MEDLINEPLUS_20151021:Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, however, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In acute myeloid leukemia (AML), there are too many of a specific type of white blood cell called a myeloblast.
AML is the most common type of acute leukemia in adults. This type of cancer usually gets worse quickly if it is not treated. Possible risk factors include smoking, previous chemotherapy treatment, and exposure to radiation.
Symptoms of AML include:
Tests that examine the blood and bone marrow diagnose AML. Treatments include chemotherapy, other drugs, radiation therapy, stem cell transplants, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. Once the leukemia is in remission, you need additional treatment to make sure that it does not come back.
NIH: National Cancer Institute
| MSH2017_2016_08_12:Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES. | NCI2016_02D:A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues. The classification of acute myeloid leukemias (AMLs) encompasses four major categories: 1) AML with recurrent genetic abnormalities; 2) AML with multilineage dysplasia; 3) Therapy-related AML; 4) AML not otherwise categorized. The required bone marrow or peripheral blood blast percentage for the diagnosis of AML is 20% (WHO classification). | NCI2016_02D:Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme. | NCI2016_NCI-GLOSS_1602D:An aggressive (fast-growing) disease in which too many myeloblasts (immature white blood cells that are not lymphoblasts) are found in the bone marrow and blood. | NCI2016_NICHD_1602D:A rapidly progressive cancer of the blood and bone marrow consisting of the proliferation of abnormal myeloblasts, which are immature, dysfunctional white blood cells. HPO2016_07_04:HP:0004808|HPO2016_07_04:HP:0006733|ICD10CM_2017:C92.0|ICD10CM_2017:C92.00|ICD9CM_2014:205.0|MSH2017_2016_08_12:D015470|OMIM2016_04_17:164920|OMIM2016_04_17:601626|OMIM2016_04_17:MTHU007776|OMIM2016_04_17:MTHU010293|OMIM2016_04_17:MTHU020408|OMIM2016_04_17:MTHU020414|OMIM2016_04_17:MTHU034946|SNOMEDCT_US_2016_09_01:154591002|SNOMEDCT_US_2016_09_01:17788007|SNOMEDCT_US_2016_09_01:277600006|SNOMEDCT_US_2016_09_01:413443009|SNOMEDCT_US_2016_09_01:91861009 C0334348 Papillary hidradenoma Hidradenoma Papilliferum | Hidradenoma papilliferum | Papillary Hidradenoma | Papillary hidradenoma | Papillary hidradenoma (disorder) | Papillary hidradenoma (morphologic abnormality) | Papillary hydradenoma | [M]Papillary hydradenoma | [M]Papillary hydradenoma (morphologic abnormality) | hidradenoma papilliferum | hidradenoma; papillary | hydradenomas papillary | papillary hidradenoma | papillary; hidradenoma NCI2016_02D:A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative. SNOMEDCT_US_2016_09_01:134157002|SNOMEDCT_US_2016_09_01:307597000|SNOMEDCT_US_2016_09_01:89791006 C4025624 Endopolyploidy on chromosome studies of bone marrow Endopolyploidy on chromosome studies of bone marrow HPO2016_07_04:An increase in the number of chromosome sets per cell in bone marrow cells. [HPO:probinson] HPO2016_07_04:HP:0003352 C1387532 Chronic hemolytic anemia Anemia, chronic hemolytic | Chronic haemolytic anaemia | Chronic hemolytic anemia | Chronic hemolytic anemia (disorder) | Hemolytic anemia, chronic | anemia; hemolytic, chronic | hemolytic anemia, chronic | hemolytic; anemia, chronic HPO2016_07_04:An chronic form of hemolytic anemia. [HPO:probinson] HPO2016_07_04:HP:0004870|OMIM2016_04_17:MTHU009750|OMIM2016_04_17:MTHU014205|OMIM2016_04_17:MTHU041671|SNOMEDCT_US_2016_09_01:707480001 C0346151 Infiltrating carcinoma of breast with fibrotic stroma Infiltrating Carcinoma of Breast with Fibrotic Stroma | Infiltrating Carcinoma of the Breast with Fibrotic Stroma | Scirrhous Breast Carcinoma | Scirrhous Carcinoma of Breast | Scirrhous Carcinoma of the Breast | Scirrhous carcinoma of breast | Scirrhous carcinoma of breast (disorder) | breast malignant carcinoma scirrhous | scirrhous carcinoma of breast | scirrhous carcinoma of breast (diagnosis) NCI2016_02D:An infiltrating ductal breast carcinoma associated with stromal fibrosis. SNOMEDCT_US_2016_09_01:254839007 C2711736 Refractory generalised nonconvulsive epilepsy Refractory generalised nonconvulsive epilepsy | Refractory generalized nonconvulsive epilepsy | Refractory generalized nonconvulsive epilepsy (disorder) SNOMEDCT_US_2016_09_01:441678004 C4023169 Moyamoya phenomenon Moyamoya phenomenon HPO2016_07_04:A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. [HPO:probinson] HPO2016_07_04:HP:0011834 C1860808 Triosephosphate isomerase deficiency TPID | TRIOSEPHOSPHATE ISOMERASE DEFICIENCY | Triosephosphate Isomerase Deficiency MSH2017_2016_08_12:C566029|OMIM2016_04_17:190450|OMIM2016_04_17:615512 C0233477 Dysphoric mood DYSPHORIA | Dysphoria | Dysphoric mood | Dysphoric mood (finding) | dysphoria | dysphoric mood | dysphoric mood (physical finding) | mood dysphoric SNOMEDCT_US_2016_09_01:30819006 C0005944 Metabolic bone disorder Bone Disease, Metabolic | Bone Diseases, Metabolic | Bone Diseases, Metabolic [Disease/Finding] | Bone metabolism disorder | Bone metabolism disorders | Bones--Metabolism--Disorders | Disease, Metabolic Bone | Diseases, Metabolic Bone | MBD | METABOLIC BONE DISEASE | Metabolic Bone Disease | Metabolic Bone Diseases | Metabolic Bone Disorder | Metabolic bone disease | Metabolic bone disease (disorder) | Metabolic bone disease, NOS | Metabolic bone disorders | Metabolic disorder of bone | bone disorders metabolic | bone metabolism disorder | metabolic bone disease | metabolic bone disease (diagnosis) | metabolic bone diseases | metabolic bone disorder | metabolic bone disorders CSP2006:condition in which there is a deviation from or interruption of the normal metabolic pathways of bone. | MSH2017_2016_08_12:Diseases that affect the METABOLIC PROCESSES of BONE TISSUE. | NCI2016_02D:A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease. MSH2017_2016_08_12:D001851|SNOMEDCT_US_2016_09_01:50279003 C0855101 Metastatic small lymphocytic lymphoma B-Cell Small Lymphocytic Lymphoma Stage IV | B-cell small lymphocytic lymphoma stage IV | Metastatic Small Lymphocytic Lymphoma | Small Lymphocytic Lymphoma Stage IV | Small lymphocyte B lymphoma (Lukes-Collins Classification) stage IV | Stage IV B-Cell Small Lymphocytic Lymphoma | Stage IV Small Lymphocytic Lymphoma | metastatic small lymphocytic lymphoma | small lymphocytic lymphoma, metastatic | small lymphocytic lymphoma, stage IV | stage IV small lymphocytic lymphoma NCI2016_02D:Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid. C3839633 Cyst of uterine adnexa Cyst of uterine adnexa | Cyst of uterine adnexa (disorder) SNOMEDCT_US_2016_09_01:97171000119100 C1519487 Squamous cell breast carcinoma, spindle cell variant Squamous Cell Breast Carcinoma, Spindle Cell Variant NCI2016_02D:A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells. C0234378 Static tremor Postural tremor | Static Tremor | Static Tremors | Static tremor | Static tremor (finding) | Tremor, Static | Tremor, postural | Tremor, static | Tremors, Static | postural tremor | postural tremors | static tremor | static tremors HPO2016_07_04:A type of tremors that is triggered by holding a limb in a fixed position. [HPO:probinson] HPO2016_07_04:HP:0002174|MSH2017_2016_08_12:D014202|OMIM2016_04_17:MTHU000773|OMIM2016_04_17:MTHU040276|SNOMEDCT_US_2016_09_01:56610005 C1835865 Cone-rod dystrophy 11 CONE-ROD DYSTROPHY 11 | CORD11 | Cone-Rod Dystrophy 11 MSH2017_2016_08_12:C563671|OMIM2016_04_17:610362|OMIM2016_04_17:610381 C4280413 Congenital malformed nails Congenital malformed nails HPO2016_07_04:HP:0008394 C2717956 Euglenozoa infections Euglenozoa Infection | Euglenozoa Infections | Euglenozoa Infections [Disease/Finding] | Infection, Euglenozoa | Infections, Euglenozoa MSH2017_2016_08_12:Infections with the protozoa of the phylum EUGLENOZOA. MSH2017_2016_08_12:D056986 C1839615 Myopathy, x-linked, with excessive autophagy (disorder) MEAX | MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY | MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (disorder) | Myopathy, X-Linked, with Excessive Autophagy | XMEA MSH2017_2016_08_12:C564093|OMIM2016_04_17:300913|OMIM2016_04_17:310440 C0948643 Uric acid concentration in urine above normal Elevated urine uric acid | High urine uric acid level | Hyperuricosuria | Uric acid concentration in urine above normal | Uric acid concentration in urine above normal (finding) | Uric acid level in urine elevated HPO2016_07_04:An abnormally high level of uric acid in the urine. [HPO:probinson] HPO2016_07_04:HP:0003149|OMIM2016_04_17:MTHU008390 C0431362 Lobar holoprosencephaly Cingulosynapsis | Holoprosencephalies, Lobar | Holoprosencephaly, Lobar | Lobar Holoprosencephalies | Lobar Holoprosencephaly | Lobar holoprosencephaly | Lobar holoprosencephaly (disorder) | Olfactory aplasia HPO2016_07_04:A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. [gc:hpe] HPO2016_07_04:HP:0006870|MSH2017_2016_08_12:D016142|OMIM2016_04_17:MTHU008170|SNOMEDCT_US_2016_09_01:253136007 C0155116 Descemet's membrane fold Descemet Membrane Folds | Descemet membrane fold | Descemet's fold | Descemet's membrane fold | Descemet's membrane fold (finding) | Descemet's membrane; fold | Folds in Descemet's membrane | Folds in Descemet's membrane (disorder) | Folds in descemet's membrane | fold; Descemet's membrane | folds in descemet's membrane (diagnosis) | folds of Descemet's membrane | folds of Descemet's membrane (physical finding) HPO2016_07_04:Presence of folds in the Descement membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descement membrane folds are generally a manifestation of inflammation or edema of the cornea. [HPO:probinson] HPO2016_07_04:HP:0012039|ICD10CM_2017:H18.32|ICD9CM_2014:371.32|SNOMEDCT_US_2016_09_01:193821003|SNOMEDCT_US_2016_09_01:74563005 C0013126 Drive Drive | Drive (observable entity) | Drives | Intrinsic drive | drive | drive [mental process] | drives MSH2017_2016_08_12:A state of internal activity of an organism that is a necessary condition before a given stimulus will elicit a class of responses; e.g., a certain level of hunger (drive) must be present before food will elicit an eating response. MSH2017_2016_08_12:D004328|SNOMEDCT_US_2016_09_01:247750002 C3277753 Deep-set nails Deep-set nails | nails deep-set | nails deep-set (physical finding) HPO2016_07_04:Deeply placed nails. [HPO:probinson] HPO2016_07_04:HP:0001814|OMIM2016_04_17:MTHU031594 C4049867 Giant cell lesion of small bones GCLSB | Giant Cell Lesion of Small Bones | Giant Cell Reparative Granuloma NCI2016_02D:A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure. C0349253 Vomiting associated with other psychological disturbances Vomiting associated with other psychological disturbances | Vomiting associated with other psychological disturbances (disorder) | Vomiting associated with other psychological disturbances (finding) SNOMEDCT_US_2016_09_01:192450008 C0334454 Dermatofibrosarcoma protuberans, myxoid DFSP, Myxoid | DFSPs, Myxoid | Dermatofibrosarcoma Protuberan, Myxoid | Dermatofibrosarcoma Protuberans, Myxoid | Myxoid DFSP | Myxoid DFSPs | Myxoid Dermatofibrosarcoma Protuberan | Myxoid Dermatofibrosarcoma Protuberans | Myxoid dermatofibrosarcoma | Myxoid dermatofibrosarcoma (disorder) | Myxoid dermatofibrosarcoma protuberans | Myxoid dermatofibrosarcoma protuberans (diagnosis) | Myxoid dermatofibrosarcoma protuberans (disorder) | Myxoid malignant fibrous histiocytoma | Protuberan, Myxoid Dermatofibrosarcoma | Protuberans, Myxoid Dermatofibrosarcoma | soft tissue dermatofibrosarcoma protuberans myxoid NCI2016_02D:A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of extensive myxoid stroma formation and a storiform growth pattern. MSH2017_2016_08_12:D018223|SNOMEDCT_US_2016_09_01:253042009 C4280378 Thickening of the scalp Thickening of the scalp HPO2016_07_04:HP:0010541 C0040038 Thromboembolism Embolism and thrombosis of unspecified site | Other venous embolism and thrombosis of unspecified site | THROMBOEMBOLIC DISEASE | THROMBOEMBOLISM | Thromboembolic Event | Thromboembolic disease | Thromboembolic disorder | Thromboembolic disorder (disorder) | Thromboembolic event | Thromboembolic events | Thromboembolism | Thromboembolism - lesion | Thromboembolism - lesion (disorder) | Thromboembolism NOS | Thromboembolism [Disease/Finding] | Thromboembolisms | Thromboembolus | Thromboembolus (morphologic abnormality) | disease thromboembolic | diseases thromboembolic | embolism; thrombus | events thromboembolic | thromboembolic disease | thromboembolic disease (diagnosis) | thromboembolic disorder | thromboembolic event | thromboembolic; disorder | thromboembolism | thromboembolisms | thromboembolus | thrombus; embolism CSP2006:obstruction of a blood vessel with thrombotic material carried by the blood stream from the site of origin to plug another vessel. | HPO2016_07_04:The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. [HPO:probinson] | MSH2017_2016_08_12:Obstruction of a blood vessel (embolism) by a blood clot (THROMBUS) in the blood stream. | NCI2016_02D:Occlusion of the lumen of a vessel by a thrombus that has migrated from a distal site via the blood stream. | NCI2016_CTCAE_1602D:A disorder characterized by occlusion of a vessel by a thrombus that has migrated from a distal site via the blood stream. | NCI2016_NICHD_1602D:Occlusion of the lumen of a vessel by a thrombus. HPO2016_07_04:HP:0001907|ICD9CM_2014:453.9|MSH2017_2016_08_12:D013923|OMIM2016_04_17:MTHU008847|OMIM2016_04_17:MTHU010071|SNOMEDCT_US_2016_09_01:134356002|SNOMEDCT_US_2016_09_01:13713005|SNOMEDCT_US_2016_09_01:371039008 C4024825 Peripheral traction retinal detachment Peripheral traction retinal detachment HPO2016_07_04:HP:0007643 C0525043 Attachment disorder reactive Attachment Disorder, Reactive | Attachment Disorders, Reactive | Disorder, Reactive Attachment | Disorders, Reactive Attachment | Reactive Attachment Disorder | Reactive Attachment Disorder [Disease/Finding] | Reactive Attachment Disorders | Reactive attachment disorder | Reactive attachment disorder (disorder) | Reactive attachment disorder, NOS | attachment disorder reactive | attachment reactive disorder | attachments disorder reactive | disorder; reactive attachment | reactive attachment disorder | reactive attachment disorder (diagnosis) | reactive attachment disorders MSH2017_2016_08_12:Markedly disturbed and developmentally inappropriate social relatedness that begins before age 5 and is associated with grossly pathological child care. The child may persistently fail to initiate and respond to social interactions in a developmentally appropriate way (inhibited type) or there may be a pattern of diffuse attachments with nondiscriminate sociability (disinhibited type). (From DSM-V) MSH2017_2016_08_12:D019962|SNOMEDCT_US_2016_09_01:41526007 C0476214 Post syndrome viral C/O - postviral syndrome | C/O - postviral syndrome (context-dependent category) | Complaining of postviral syndrome | Complaining of postviral syndrome (finding) | Post viral syndrome | Postviral (asthenic) syndrome | Postviral asthenic syndrome | Postviral debility | Postviral syndr.(asthenic) | Postviral syndrome | [D]Postviral (asthenic) syndrome | [D]Postviral (asthenic) syndrome (context-dependent category) | [D]Postviral (asthenic) syndrome (situation) | [D]Postviral debility | [D]Postviral syndr.(asthenic) | post syndrome viral | post viral syndrome | postviral syndrome | postviral syndromes | postviral; syndrome | syndrome post viral | syndrome; postviral SNOMEDCT_US_2016_09_01:139128004|SNOMEDCT_US_2016_09_01:158172003|SNOMEDCT_US_2016_09_01:161871003|SNOMEDCT_US_2016_09_01:206770002|SNOMEDCT_US_2016_09_01:267161007|SNOMEDCT_US_2016_09_01:272038003 C0265999 Congenital; clubnail Congenital clubnail | Congenital clubnail (disorder) | congenital clubnail | congenital clubnail (diagnosis) | congenital; clubnail ICD10CM_2017:Q84.6|SNOMEDCT_US_2016_09_01:64596006 C1334813 Mucoepidermoid breast carcinoma Mucoepidermoid Breast Carcinoma | Mucoepidermoid Carcinoma of Breast | Mucoepidermoid Carcinoma of the Breast NCI2016_02D:A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare. C1260326 Dendritic cell sarcoma, interdigitating Dendritic Cell Sarcoma, Interdigitating | Dendritic Cell Sarcoma, Interdigitating [Disease/Finding] | Interdigitating Cell Sarcoma | Interdigitating Cell Sarcoma/Tumor | Interdigitating Cell Sarcomas | Interdigitating Dendritic Cell Sarcoma | Interdigitating Dendritic Cell Sarcoma/Tumor | Interdigitating cell sarcoma | Interdigitating dendritic cell sarcoma | Interdigitating dendritic cell sarcoma (morphologic abnormality) | Sarcoma, Interdigitating Cell | Sarcomas, Interdigitating Cell | dendritic cell sarcoma | interdigitating dendritic cell sarcoma | interdigitating dendritic cell sarcoma (diagnosis) MSH2017_2016_08_12:A rare sarcoma of INTERDIGITATING CELLS found in the lymph nodes and non-lymphoid organs. They exhibit a variable immunophenotype and lack Birbeck granules. | NCI2016_02D:A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008) ICD10CM_2017:C96.4|MSH2017_2016_08_12:D054739|SNOMEDCT_US_2016_09_01:128815007 C1841679 Hand foot uterus syndrome HAND-FOOT-GENITAL SYNDROME | HAND-FOOT-UTERUS SYNDROME | HFG | HFG Syndrome | HFU | HFU Syndrome | Hand foot genital syndrome | Hand foot uterus syndrome | Hand-Foot-Genital Syndrome | Hand-Foot-Uterus Syndrome | Hand-foot-genital syndrome | Hand-foot-genital syndrome (disorder) | Hand-foot-uterus syndrome MSH2017_2016_08_12:C535627|OMIM2016_04_17:140000|OMIM2016_04_17:142959|SNOMEDCT_US_2016_09_01:702425002 C0008340 Choledochal cyst BILE DUCT CYSTS | BILE DUCT, COMMON, CYSTIC DILATATION | Bile Duct Cyst | Bile Duct Cysts | CHOLEDOCHAL CYSTS | CHOLEDOCHOCELE | CHOLEDOCHUS, CYST | Choledochal Cyst | Choledochal Cyst [Disease/Finding] | Choledochal Cyst, Congenital | Choledochal Cysts | Choledochal Cysts, Congenital | Choledochal cyst | Choledochocele | Choledochocele (disorder) | Choledochoceles | Choledochocoele | Choledochocyst | Congenital Choledochal Cyst | Congenital Choledochal Cysts | Congenital biliary duct cyst | Congenital choledochal cyst | Congenital choledochal cyst (disorder) | Congenital common duct cyst | Congenital cystic dilatation of common bile duct | Cyst of the ductus choledochus | Cyst, Bile Duct | Cyst, Choledochal | Cyst, Congenital Choledochal | Cystic dilatation of common bile duct | Cystic dilatation of common bile duct (disorder) | Cysts, Bile Duct | Cysts, Choledochal | Cysts, Congenital Choledochal | Duct Cyst, Bile | Duct Cysts, Bile | choledochal cyst | choledochal cyst (diagnosis) | choledochal cysts | choledochocele | choledochocoele | choledochocyst | choledochus cyst | choledochus; cyst | congenital choledochal cyst | congenital choledochal cyst (diagnosis) | cyst choledochal | cyst; choledochus MSH2017_2016_08_12:A congenital anatomic malformation of a bile duct, including cystic dilatation of the extrahepatic bile duct or the large intrahepatic bile duct. Classification is based on the site and type of dilatation. Type I is most common. | NCI2016_02D:Cystic dilatation of the hepatic duct or bile duct. HPO2016_07_04:HP:0100890|ICD10CM_2017:Q44.4|MSH2017_2016_08_12:D015529|OMIM2016_04_17:603003|SNOMEDCT_US_2016_09_01:30533003|SNOMEDCT_US_2016_09_01:397868007|SNOMEDCT_US_2016_09_01:398197009|SNOMEDCT_US_2016_09_01:440471007 C0745136 Hypertensive emergency HYPERTENSIVE EMERGENCY | Hypertensive emergency | Hypertensive emergency (disorder) | emergencies hypertensive | emergency hypertensive | hypertensive emergency ICD10CM_2017:I16.1|SNOMEDCT_US_2016_09_01:132721000119104 C0344262 Anterior lenticonus Anterior lenticonus | Anterior lenticonus (disorder) | anterior lenticonus cataract | anterior lenticonus cataract (diagnosis) | cataract lenticonus anterior HPO2016_07_04:A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. [DDD:gblack] HPO2016_07_04:HP:0011501|OMIM2016_04_17:MTHU031642|SNOMEDCT_US_2016_09_01:95480008 C0004610 Bacteremia BACTEREMIA | Bacteraemia | Bacteraemia NOS | Bacteraemia, unspecified | Bacteremia | Bacteremia (disorder) | Bacteremia (finding) | Bacteremia NOS | Bacteremia NOS (disorder) | Bacteremia NOS (finding) | Bacteremia [Disease/Finding] | Bacteremia, NOS | Bacteremia, unspecified | Bacteremias | Unspecified bacteraemia | Unspecified bacteremia | [D]Unspecified bacteraemia | [D]Unspecified bacteraemia (situation) | [D]Unspecified bacteremia | [D]Unspecified bacteremia (context-dependent category) | [D]Unspecified bacteremia (situation) | bacteraemia | bacteremia | bacteremia (diagnosis) | bacteremias | bacteria in the blood | blood poisoning MSH2017_2016_08_12:The presence of viable bacteria circulating in the blood. Fever, chills, tachycardia, and tachypnea are common acute manifestations of bacteremia. The majority of cases are seen in already hospitalized patients, most of whom have underlying diseases or procedures which render their bloodstreams susceptible to invasion. | NCI2016_02D:A laboratory test result that indicates the presence of bacteria in the blood. | NCI2016_NICHD_1602D:The presence of bacteria in the blood. ICD10CM_2017:R78.81|ICD9CM_2014:790.7|MSH2017_2016_08_12:D016470|SNOMEDCT_US_2016_09_01:10001005|SNOMEDCT_US_2016_09_01:158561001|SNOMEDCT_US_2016_09_01:207294007|SNOMEDCT_US_2016_09_01:311773008|SNOMEDCT_US_2016_09_01:5758002 C0339273 Corneal dystrophy, lattice type 3 AMYLOID CORNEAL DYSTROPHY, JAPANESE TYPE | AMYLOIDOSIS, CORNEAL | Amyloid corneal dystrophy, Japanese type | Amyloid of cornea | Amyloidosis, corneal | CDGDL | CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE | CORNEAL DYSTROPHY, LATTICE TYPE III | Corneal Dystrophy, Lattice Type III | Corneal amyloidosis | Corneal dystrophy, Lattice type 3 | Corneal dystrophy, gelatinous drop-like | GDLD | GELATINOUS DROP-LIKE CORNEAL DYSTROPHY | Gelatinous drop-like corneal dystrophy | LATTICE CORNEAL DYSTROPHY, TYPE III | Lattice Corneal Dystrophy, Type III | Lattice corneal dystrophy Type III | Lattice corneal dystrophy Type III (disorder) | Lattice corneal dystrophy type3 | Primary familial amyloidosis of the cornea | corneal dystrophy lattice - type iii | lattice corneal dystrophy - type III | lattice corneal dystrophy - type III (diagnosis) MSH2017_2016_08_12:C535480|OMIM2016_04_17:137290|OMIM2016_04_17:204870|SNOMEDCT_US_2016_09_01:418946006 C0153396 Malignant tumor of anterior wall of nasopharynx Malig neop ant wall nasoph NOS | Malig neop ant wall nasopharyn | Malig tum ant wall nasopharynx | Malignant neoplasm of anterior wall of nasopharynx | Malignant neoplasm of anterior wall of nasopharynx NOS | Malignant neoplasm of anterior wall of nasopharynx NOS (disorder) | Malignant tumor of anterior wall of nasopharynx | Malignant tumor of anterior wall of nasopharynx (disorder) | Malignant tumour of anterior wall of nasopharynx | malignant neoplasm of anterior wall of nasopharynx | malignant neoplasm of anterior wall of nasopharynx (diagnosis) | malignant tumor of anterior wall of nasopharynx ICD10CM_2017:C11.3|ICD9CM_2014:147.3|SNOMEDCT_US_2016_09_01:187700006|SNOMEDCT_US_2016_09_01:187704002 C1275968 Senile asteatotic eczema Senile asteatotic eczema | Senile asteatotic eczema (disorder) SNOMEDCT_US_2016_09_01:400051008 C3178945 Central nervous system phaeohyphomycosis Central Nervous System Phaeohyphomycosis | Cerebral Phaeohyphomycoses | Cerebral Phaeohyphomycosis | Cerebral Phaeohyphomycosis [Disease/Finding] | Phaeohyphomycoses, Cerebral | Phaeohyphomycosis, Central Nervous System | Phaeohyphomycosis, Cerebral MSH2017_2016_08_12:CNS infections caused by neurotropic dematiaceous fungi that contain melanin in their cell walls. The infections often result in BRAIN ABSCESS; ENCEPHALITIS; and MENINGITIS in patients who are often immunocompetent. The common causative fungi include members Cladophialophora bantiana, Exophiala dermatitidis, Rhinocladiella mackenziei, and Ochroconis gallopavum. R. mackenziei infection is seen almost exclusively in patients from the MIDDLE EAST. MSH2017_2016_08_12:D060425 C1963709 Abetalipoproteinemia Abetalipoproteinemia | Abetalipoproteinemia (lab finding) OMIM2016_04_17:MTHU014871 C0003860 Arteritis ARTERITIS | Arterial Inflammation | Arterial inflammations | Arteritides | Arteritis | Arteritis (disorder) | Arteritis NOS | Arteritis [Disease/Finding] | Arteritis unspecified | Arteritis unspecified (disorder) | Arteritis, NOS | Arteritis, unspecified | Artery/capillary disease NOS | INFLAMMATORY ARTERY REACTION | Inflammation of artery | Inflammation, Arterial | Inflammatory arterial reaction | Inflammatory artery reaction | arteritis | arteritis (diagnosis) | artery inflammation CSP2006:inflammation of an artery. | HPO2016_07_04:Arterial inflammation. [HPO:probinson] | MSH2017_2016_08_12:INFLAMMATION of any ARTERIES. | NCI2016_02D:An inflammatory process affecting an artery. | NCI2016_NICHD_1602D:Inflammation of an artery. HPO2016_07_04:HP:0012089|ICD10CM_2017:I77.6|ICD9CM_2014:447.6|MSH2017_2016_08_12:D001167|SNOMEDCT_US_2016_09_01:195368003|SNOMEDCT_US_2016_09_01:266265002|SNOMEDCT_US_2016_09_01:266325003|SNOMEDCT_US_2016_09_01:52089001 C1290011 Disorder of integument Disorder of integument | Disorder of integument (disorder) | disorder of integument (diagnosis) SNOMEDCT_US_2016_09_01:128598002 C0018194 Giant cell granuloma Giant Cell Granuloma | Giant Cell Granulomas | Giant cell granuloma | Giant cell granuloma (morphologic abnormality) | Giant cell granuloma NOS | Giant cell granuloma, NOS | Granuloma, Giant Cell | Granuloma, Giant Cell [Disease/Finding] | Granulomas, Giant Cell | cell giant granuloma | giant cell granuloma | giant cell; granuloma | granuloma; giant cell MSH2017_2016_08_12:A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw. ICD10CM_2017:M27.1|MSH2017_2016_08_12:D006101|SNOMEDCT_US_2016_09_01:43917008 C2750079 Exudative vitreoretinopathy 5 EVR5 | EXUDATIVE VITREORETINOPATHY 5 | Exudative Vitreoretinopathy 5 MSH2017_2016_08_12:C567648|OMIM2016_04_17:613138|OMIM2016_04_17:613310 C0013895 Elimination disorders Disorder, Elimination | Disorders, Elimination | ELIMINATION DISORDERS | Elimination Disorder | Elimination Disorders | Elimination Disorders [Disease/Finding] | Elimination disorder | Elimination disorder (disorder) | Elimination disorder, NOS | disorder; elimination | disturbance; elimination | elimination disorder | elimination disorder (diagnosis) | elimination disorders | elimination; disorder | other psychiatric disorders elimination MSH2017_2016_08_12:Excretory-related psychiatric disorders usually diagnosed in infancy or childhood. MSH2017_2016_08_12:D019960|SNOMEDCT_US_2016_09_01:1164009 C1832229 Rieger syndrome 2 (disorder) AXENFELD-RIEGER SYNDROME, TYPE 2 | Axenfeld-Rieger Syndrome, Type 2 | Axenfeld-Rieger syndrome Type 2 | Axenfeld-Rieger syndrome Type 2 (diagnosis) | Axenfeld-Rieger syndrome type 2 | RIEG2 | RIEGER SYNDROME, TYPE 2 | Rieger Syndrome, Type 2 | Rieger syndrome 2 | Rieger syndrome 2 (disorder) | Rieger syndrome type 2 MSH2017_2016_08_12:C535680|OMIM2016_04_17:601499 C0564774 Dysmenorrhea - non-psychogen Dysmenorrhea - non-psychogen | Dysmenorrhea - non-psychogenic | Dysmenorrhea - non-psychogenic (disorder) | Dysmenorrhea -non psychogenic | Dysmenorrhea-non psych | Dysmenorrhoea - non-psychogen | Dysmenorrhoea - non-psychogenic | Dysmenorrhoea -non psychogenic | Dysmenorrhoea-non psych SNOMEDCT_US_2016_09_01:156025005|SNOMEDCT_US_2016_09_01:266667002|SNOMEDCT_US_2016_09_01:286993001 C0341486 Cystadenoma of pancreas Cystadenoma of Pancreas | Cystadenoma of pancreas | Cystadenoma of pancreas (disorder) | Cystadenoma of the Pancreas | Pancreatic Cystadenoma NCI2016_02D:A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. SNOMEDCT_US_2016_09_01:235967003 C4024054 Duplication of the proximal phalanx of the hallux Duplication of the innermost bone of big toe | Duplication of the proximal phalanx of the hallux HPO2016_07_04:Partial or complete duplication of the proximal phalanx of big toe. [HPO:sdoelken] HPO2016_07_04:HP:0010093 C0014557 Epilepsy, post-traumatic Disorder, Post-Traumatic Seizure | Disorders, Post-Traumatic Seizure | EPILEPSY POSTTRAUMATIC | Epilepsies, Post-Traumatic | Epilepsies, Traumatic | Epilepsy, Post Traumatic | Epilepsy, Post-Traumatic | Epilepsy, Post-Traumatic [Disease/Finding] | Epilepsy, Traumatic | PTE - Post-traumatic epilepsy | Post Traumatic Seizure Disorder | Post-Traumatic Epilepsies | Post-Traumatic Epilepsy | Post-Traumatic Seizure Disorder | Post-Traumatic Seizure Disorders | Post-traumatic epilepsy | Post-traumatic epilepsy (disorder) | Post-traumatic seizure disorder | Seizure Disorder, Post Traumatic | Seizure Disorder, Post-Traumatic | Seizure Disorders, Post-Traumatic | Traumatic Epilepsies | Traumatic Epilepsy | Traumatic epilepsy | Traumatic epilepsy (disorder) | epilepsy following trauma | epilepsy; traumatic | post traumatic epilepsy | post-traumatic epilepsy | posttraumatic epilepsy | traumatic epilepsy | traumatic; epileptic MSH2017_2016_08_12:Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6) MSH2017_2016_08_12:D004834|SNOMEDCT_US_2016_09_01:157437008|SNOMEDCT_US_2016_09_01:75023009 C0154697 Cerebral palsy, quadriplegic, infantile Cerebral Palsy, Quadriplegic, Infantile | Cerebral palsy &/or congenital quadriplegia | Cerebral palsy &/or congenital quadriplegia (disorder) | Congenital quadriplegia | Congenital quadriplegia (disorder) | Congenital tetraplegia | Infantile Cerebral Palsy, Quadriplegic | Infantile cerebral palsy, quadriplegic | Quadriplegic Infantile Cerebral Palsy | Quadriplegic infantile cerebral palsy | Tetraplegia - congenital | Tetraplegic infantile cerebral palsy | congenital; quadriplegia ICD9CM_2014:343.2|MSH2017_2016_08_12:D002547|SNOMEDCT_US_2016_09_01:192953000|SNOMEDCT_US_2016_09_01:275468009 C0033931 Psychophysiologic disorders Psychophysiologic Disorder | Psychophysiologic Disorders | Psychophysiologic Disorders [Disease/Finding] | Psychophysiologic disorder | Psychophysiologic disorder (finding) | Psychophysiologic disorder NOS | Psychophysiologic disorder, NOS | Psychophysiological Disorder | Psychophysiological Disorders | Psychosomatic Disorder | Psychosomatic Disorders | Psychosomatic disease | Psychosomatic disorder | Psychosomatic disorder (diagnosis) | Psychosomatic disorder NOS | Psychosomatic disorder NOS (disorder) | Psychosomatic disorder, NOS | disease psychosomatics | diseases psychosomatic | dysfunction; psychophysiological | illness psychosomatic | illnesses psychosomatic | psychiatric diagnosis or condition psychosomatic disorder | psychophysiologic disorder | psychophysiologic disorders | psychophysiological disorder | psychophysiological disorders | psychophysiological dysfunction | psychosomatic disease | psychosomatic disorder | psychosomatic disorders | psychosomatic illness CSP2006:characterized by physical symptoms and demonstrable structural or physiological changes in which emotional factors are believed to play a major etiologic role. | MSH2017_2016_08_12:A group of disorders characterized by physical symptoms that are affected by emotional factors and involve a single organ system, usually under AUTONOMIC NERVOUS SYSTEM control. (American Psychiatric Glossary, 1988) ICD10CM_2017:F45.9|MSH2017_2016_08_12:D011602|SNOMEDCT_US_2016_09_01:191985004|SNOMEDCT_US_2016_09_01:37057007 C4021803 Abnormality of the eyelid Abnormality of the eyelid | Abnormality of the eyelids HPO2016_07_04:An abnormality of the eyelids. [HPO:probinson] HPO2016_07_04:HP:0000492 C0452160 Lumbago; sciatica Lumbago with sciatica | Lumbago with sciatica (disorder) | Lumbago with sciatica (finding) | lumbago with sciatica (diagnosis) | lumbago; sciatica | sciatica; lumbago ICD10CM_2017:M54.4|SNOMEDCT_US_2016_09_01:202794004 C4040739 3-methylglutaconic aciduria type iv with sensorineural deafness, encephalopathy and leigh-like syndrome 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) | MEGDEL syndrome SNOMEDCT_US_2016_09_01:A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease. SNOMEDCT_US_2016_09_01:711409002 C0346451 Neoplasm of lower limb Neoplasm of lower limb | Neoplasm of lower limb (disorder) | Tumor of lower limb | Tumour of lower limb | neoplasm of lower limb (diagnosis) SNOMEDCT_US_2016_09_01:126655004 C0010414 Infection by cryptococcus neoformans (Cryptococcosis [& European]) or (torula) or (Busse Buschkes disease) | (Cryptococcosis [& European]) or (torula) or (Busse Buschkes disease) (disorder) | Busse - Buschke's disease | Busse-Buschke (etiology) | Busse-Buschke (manifestation) | Busse-Buschke disease | Busse-Buschke's disease | C.neoformans infection | CRYPTOCOCCOSIS | CRYPTOCOCCUS | Cryptococcoses | Cryptococcosis | Cryptococcosis (disorder) | Cryptococcosis NOS | Cryptococcosis NOS (disorder) | Cryptococcosis [Disease/Finding] | Cryptococcosis, NOS | Cryptococcosis, unspecified | Cryptococcus neoformans | Cryptococcus neoformans infection | Cryptococcus neoformans; infection | European Blastomycosis | European blastomycosis | European cryptococcosis | Infection by Cryptococcus neoformans | Infection due to Cryptococcus | TORULOSIS | Torula | Torula histolytica; infection | Toruloses | Torulosis | [X]Cryptococcosis, unspecified | [X]Cryptococcosis, unspecified (disorder) | cryptococcoses | cryptococcosis | cryptococcosis (diagnosis) | cryptococcus infection neoformans | cryptococcus neoformans | infection; Blastomyces, blastomycotic, European | infection; Cryptococcus neoformans | infection; Torula histolytica | torula | torulosis CSP2006:infection with a fungus of the species Cryptococcus neoformans. | MSH2017_2016_08_12:Infection with a fungus of the species CRYPTOCOCCUS NEOFORMANS. | NCI2016_02D:An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004 ICD10CM_2017:B45|ICD10CM_2017:B45.9|ICD9CM_2014:117.5|MSH2017_2016_08_12:D003453|SNOMEDCT_US_2016_09_01:187090005|SNOMEDCT_US_2016_09_01:187097008|SNOMEDCT_US_2016_09_01:187494009|SNOMEDCT_US_2016_09_01:20850004|SNOMEDCT_US_2016_09_01:42386007 C4024881 Few cafe-au-lait spots Few cafe-au-lait spots HPO2016_07_04:The presence of two to five cafe-au-lait macules. [DDD:cmoss] HPO2016_07_04:HP:0007429 C2363814 Femur-fibula-ulna complex Femur-fibula-ulna complex C0221289 Benign neoplasm of synovium Benign Neoplasm of Synovium | Benign Neoplasm of the Synovium | Benign Synovial Neoplasm | Benign Synovial Tumor | Benign Synovioma | Benign Tumor of Synovium | Benign Tumor of the Synovium | Benign synovioma | SYNOVIOMA, BENIGN | Synovioma, benign | Synovioma, benign (morphologic abnormality) NCI2016_02D:A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath. | NCI2016_CDISC_1602D:A benign neoplasm arising from the synovial membrane. SNOMEDCT_US_2016_09_01:5178002 C1858517 Spinal muscular atrophy with respiratory distress 1 Autosomal Recessive Distal Spinal Muscular Atrophy 1 | Autosomal recessive distal spinal muscular atrophy 1 | DHMN6 | DSMA1 | Dhmn6 | Diaphragmatic Spinal Muscular Atrophy | Diaphragmatic spinal muscular atrophy | Distal Hereditary Motor Neuronopathy Type Vi | Distal Spinal Muscular Atrophy Type 1 | Distal hereditary motor neuronopathy type VI | Distal spinal muscular atrophy type 1 | Dsma1 | HMN VI | HMN6 | Hmn6 | Hmnvi | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI | NEURONOPATHY, SEVERE INFANTILE AXONAL, WITH RESPIRATORY FAILURE | Neuronopathy, Distal Hereditary Motor, Type VI | Neuronopathy, Severe Infantile Axonal, With Respiratory Failure | SEVERE INFANTILE AXONAL NEUROPATHY WITH RESPIRATORY FAILURE | SIANRF | SMARD1 | SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 | SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 | Severe Infantile Axonal Neuropathy With Respiratory Failure | Severe infantile axonal neuropathy with respiratory failure | Sianrf | Smard1 | Spinal Muscular Atrophy with Respiratory Distress | Spinal Muscular Atrophy with Respiratory Distress Type 1 | Spinal Muscular Atrophy, Diaphragmatic | Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 | Spinal muscular atrophy with respiratory distress | Spinal muscular atrophy with respiratory distress 1 | Spinal muscular atrophy with respiratory distress type 1 | Spinal muscular atrophy with respiratory distress type 1 (disorder) MSH2017_2016_08_12:C536880|OMIM2016_04_17:604320|SNOMEDCT_US_2016_09_01:711483003 C2675862 Pyloric stenosis, infantile hypertrophic, 5 IHPS5 | PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 5 | Pyloric Stenosis, Infantile Hypertrophic, 5 MSH2017_2016_08_12:C567283|OMIM2016_04_17:612525 C0266060 Anterior open bite AOB - Anterior openbite | Anterior open bite | Anterior open bite (disorder) | Anterior openbite | Open anterior bite | Openbite, anterior | anterior open bite | anterior open bite (diagnosis) | open anterior bite HPO2016_07_04:HP:0200095|ICD10CM_2017:M26.220|OMIM2016_04_17:MTHU036676|OMIM2016_04_17:MTHU038236|OMIM2016_04_17:MTHU038567|SNOMEDCT_US_2016_09_01:67289000 C1970235 Mycobacterium tuberculosis, susceptibility to, 2 MTBS2 | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 OMIM2016_04_17:611046 C4024201 Low-output congestive heart failure Low-output congestive heart failure HPO2016_07_04:A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes. [HPO:curators] HPO2016_07_04:HP:0009805 C0917981 Progressive muscular atrophy Atrophies, Progressive Muscular | Atrophy, Progressive Muscular | Cruveilhier | Duchenne-Aran | Duchenne-Aran muscular atrophy | Duchenne-Aran muscular atrophy (diagnosis) | Duchenne-Aran; atrophy | Muscular Atrophies, Progressive | Muscular Atrophy, Progressive | Myelopathic Muscular Atrophy, Progressive | PMA - Progressive muscular atrophy | Progressive Muscular Atrophies | Progressive Muscular Atrophy | Progressive Myelopathic Muscular Atrophy | Progressive muscular atrophy | Progressive muscular atrophy (disorder) | Pure progressive muscular atrophy | atrophy; Duchenne-Aran | atrophy; muscle, Duchenne-Aran | muscle; atrophy, Duchenne-Aran | progressive muscular atrophy | progressive muscular atrophy (Duchenne-Aran) | progressive muscular atrophy (diagnosis) NCI2016_02D:A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation. ICD9CM_2014:335.21|MSH2017_2016_08_12:D009134|SNOMEDCT_US_2016_09_01:88923002 C0007121 Bronchogenic carcinoma BC - Bronchogenic carcinoma | BRONCHIAL CARCINOMA | Bronchi--Cancer | Bronchial Carcinoma | Bronchial Carcinomas | Bronchial carcinoma | Bronchiogenic Carcinoma | Bronchogenic Carcinoma | Bronchogenic Carcinomas | Bronchogenic Lung Carcinoma | Bronchogenic carcinoma | Bronchus carcinoma | CA - Cancer of bronchus | CA - Carcinoma of bronchus | CARCINOMA BRONCHIOGENIC | CARCINOMA, BRONCHIAL, MALIGNANT | Ca bronchus | Cancer of bronchus | Carcinoma bronchiogenic | Carcinoma of bronchus | Carcinoma of bronchus (diagnosis) | Carcinoma, Bronchial | Carcinoma, Bronchogenic | Carcinoma, Bronchogenic [Disease/Finding] | Carcinoma;bronchus | Carcinomas, Bronchial | Carcinomas, Bronchogenic | LUNG CANCER BRONCHOGENIC CARCINOMA | LUNG CANCER, BRONCHOGENIC CARCINOMA | LUNG, CARCINOMA, BRONCHOGENIC | Primary bronchial cancer | bronchial cancer | bronchial carcinoma | bronchiogenic carcinoma | bronchogenic carcinoma | bronchogenic lung carcinoma | bronchus cancer | bronchus carcinoma | cancer bronchus | carcinoma of bronchus | carcinoma of the bronchus | malignant neoplasm bronchus | malignant neoplasm of bronchus carcinoma CSP2006:group of carcinomas of the lung, arising from the epithelium of the bronchial tree. | MSH2017_2016_08_12:Malignant neoplasm arising from the epithelium of the BRONCHI. It represents a large group of epithelial lung malignancies which can be divided into two clinical groups: SMALL CELL LUNG CANCER and NON-SMALL-CELL LUNG CARCINOMA. | NCI2016_02D:A lung carcinoma arising from the bronchial epithelium. | NCI2016_CDISC_1602D:A malignant neoplasia of the lung, arising from bronchial epithelium. | NCI2016_NCI-GLOSS_1602D:Cancer that begins in the tissue that lines or covers the airways of the lungs, including small cell and non-small cell lung cancer. MSH2017_2016_08_12:D002283|SNOMEDCT_US_2016_09_01:154485001|SNOMEDCT_US_2016_09_01:254622008|SNOMEDCT_US_2016_09_01:269561006|SNOMEDCT_US_2016_09_01:363493006 C0855188 Bladder squamous cell carcinoma stage i Bladder Squamous Cell Carcinoma Stage I | Bladder squamous cell carcinoma stage I | Squamous cell bladder carcinoma stage I | Squamous cell carcinoma of the bladder stage I | Stage I Squamous Cell Carcinoma of Bladder | Stage I Squamous Cell Carcinoma of the Bladder | Stage I Squamous Cell Carcinoma of the Bladder AJCC v6 | Stage I Squamous Cell Carcinoma of the Bladder AJCC v7 NCI2016_02D:Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) C1968958 Subependymal nodules Subependymal nodules HPO2016_07_04:Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter. [HPO:curators] HPO2016_07_04:HP:0009716|OMIM2016_04_17:MTHU020889 C2752048 Gabrielli syndrome GABRIELLI SYNDROME | Gabrielli syndrome | OFD11 | OFDS XI | ORAL-FACIAL-DIGITAL SYNDROME WITH SKELETAL ANOMALIES | ORAL-FACIAL-DIGITAL SYNDROME, TYPE XI | OROFACIODIGITAL SYNDROME XI | Oral-Facial-Digital Syndrome with Skeletal Anomalies | Oral-Facial-Digital Syndrome, Type XI | Oral-facial-digital syndrome 11 | Orofaciodigital syndrome 11 | Orofaciodigital syndrome XI MSH2017_2016_08_12:C557821|OMIM2016_04_17:612913 C0024305 Lymphoma, non-hodgkin Diffuse Small Cleaved Cell Lymphoma | Diffuse Small Cleaved-Cell Lymphoma | Diffuse non-Hodgkin's small cleaved cell (diffuse) lymphoma | LYMPHOMA NON HODGKIN | LYMPHOMA, NON HODGKIN | LYMPHOMA, NON-HODGKIN | LYMPHOMA, NON-HODGKIN, FAMILIAL | Lymphoma (non-Hodgkin's) | Lymphoma, Atypical Diffuse Small Lymphoid | Lymphoma, Non Hodgkin | Lymphoma, Non Hodgkin's | Lymphoma, Non Hodgkins | Lymphoma, Non-Hodgkin | Lymphoma, Non-Hodgkin [Disease/Finding] | Lymphoma, Non-Hodgkin's | Lymphoma, Non-Hodgkin, Familial | Lymphoma, Non-Hodgkins | Lymphoma, Nonhodgkin | Lymphoma, Nonhodgkin's | Lymphoma, Nonhodgkins | Lymphoma, Small Cleaved Cell, Diffuse | Lymphoma, Small Cleaved-Cell, Diffuse | Lymphoma;non Hodgkins | MALIGNANT LYMPHOMA NON HODGKINS TYPE | Mal lymphoma, non-Hodg type | Malg lymph,smal cleav,difus | Malignant lymphoma, cleaved cell [obs] | Malignant lymphoma, diffuse, small cleaved cell | Malignant lymphoma, non-Hodgkin | Malignant lymphoma, non-Hodgkin's | Malignant lymphoma, non-Hodgkin's NOS | Malignant lymphoma, non-Hodgkin's type | Malignant lymphoma, non-Hodgkin's, NOS | Malignant lymphoma, small cell, noncleaved, diffuse [obs] | Malignant lymphoma, small cleaved cell [obs] | Malignant lymphoma, small cleaved cell, diffuse | Malignant lymphoma, small cleaved cell, diffuse -RETIRED- | Malignant lymphoma, small cleaved cell, diffuse [obs] | Malignant lymphoma, undifferentiated cell type [obs] | Malignant lymphoma, undifferentiated cell, non-Burkitt [obs] | NHL | NHL - Non-Hodgkin's lymphoma | NHL, NOS | NON HODGKINS LYMPHOMA | NON-HODGKIN LYMPHOMA | NON-HODGKIN'S LYMPHOMA | NONHODGKINS LYMPHOMA | Non Hodgkin Lymphoma | Non Hodgkin's Lymphoma | Non-Hod lympha, unspec type | Non-Hodgkin Lymphoma | Non-Hodgkin lymphoma | Non-Hodgkin lymphoma (category) | Non-Hodgkin lymphoma - category | Non-Hodgkin lymphoma - category (morphologic abnormality) | Non-Hodgkin lymphoma NOS | Non-Hodgkin lymphoma, NOS | Non-Hodgkin lymphoma, no ICD-O subtype | Non-Hodgkin lymphoma, no ICD-O subtype (morphologic abnormality) | Non-Hodgkin lymphoma, no International Classification of Diseases for Oncology subtype | Non-Hodgkin lymphoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) | Non-Hodgkin's Lymphoma | Non-Hodgkin's Lymphoma (NHL) | Non-Hodgkin's lymphoma | Non-Hodgkin's lymphoma (clinical) | Non-Hodgkin's lymphoma (disorder) | Non-Hodgkin's lymphoma - disorder | Non-Hodgkin's lymphoma NOS | Non-Hodgkin's lymphoma, NOS | Non-Hodgkin's lymphoma, unspecified type | Non-Hodgkin`s lymphoma | Non-Hodgkins Lymphoma | Non-Hodgkins lymphoma | Nonhodgkin's Lymphoma | Nonhodgkins Lymphoma | Small Cleaved Cell Lymphoma, Diffuse | Small Cleaved-Cell Lymphoma, Diffuse | Small cleaved cell (diffuse) non-Hodgkin's lymphoma | [M]Mal lymphoma, non-Hodg type | [M]Malg lymph,smal cleav,difus | [M]Malignant lymphoma, non-Hodgkin's type | [M]Malignant lymphoma, small cleaved cell, diffuse | [M]Malignant lymphoma, small cleaved cell, diffuse (morphologic abnormality) | [M]Non-Hodgkin's lymphoma | [X]Non-Hod lympha, unspec type | [X]Non-Hodgkin's lymphoma, unspecified type | [X]Non-Hodgkin's lymphoma, unspecified type (disorder) | diffuse; lymphoma, small cell, cleaved | lymphoma, non-Hodgkin's | lymphoma; diffuse, small cell, cleaved | lymphoma; non-Hodgkin's | lymphoma; small cell, cleaved (diffuse) | nhl | non hodgkin lymphoma | non hodgkin's lymphoma | non hodgkin's lymphoma (NHL) | non hodgkins lymphoma | non-Hodgkin lymphoma | non-Hodgkin's lymphoma | non-Hodgkin's lymphoma (diagnosis) | non-Hodgkin's; lymphoma | non-hodgkin lymphoma | non-hodgkin's lymphoma | non-hodgkins lymphoma | nonHodgkin's lymphoma | nonhodgkin lymphoma | nonhodgkin's lymphoma | nonhodgkins lymphoma | small cell; lymphoma, cleaved (diffuse) CSP2006:characterized by malignant lymphomas; clinically similar to Hodgkin's disease, except that the lymphomas seen in this disease are initially more widespread; most common manifestation is painless enlargement of one or more peripheral lymph nodes. | HPO2016_07_04:A typer of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells. [HPO:probinson] | MSH2017_2016_08_12:Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease. | NCI2016_02D:Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage. | NCI2016_NCI-GLOSS_1602D:Any of a large group of cancers of lymphocytes (white blood cells). NHLs can occur at any age and are often marked by lymph nodes that are larger than normal, fever, and weight loss. There are many different types of NHL. These types can be divided into aggressive (fast-growing) and indolent (slow-growing) types, and they can be formed from either B-cells or T-cells. B-cell NHLs include Burkitt lymphoma, chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL), diffuse large B-cell lymphoma, follicular lymphoma, immunoblastic large cell lymphoma, precursor B-lymphoblastic lymphoma, and mantle cell lymphoma. T-cell NHLs include mycosis fungoides, anaplastic large cell lymphoma, and precursor T-lymphoblastic lymphoma. Lymphomas that occur after bone marrow or stem cell transplantation are usually B-cell NHLs. Prognosis and treatment depend on the stage and type of disease. | NCI2016_NICHD_1602D:A malignant neoplasm of the lymphatic system that is comprised of abnormal lymphocytes in the absence of Reed-Sternberg cells. HPO2016_07_04:HP:0012539|ICD10CM_2017:C85.9|MSH2017_2016_08_12:D008228|OMIM2016_04_17:170280|OMIM2016_04_17:191170|OMIM2016_04_17:605027|OMIM2016_04_17:MTHU014311|SNOMEDCT_US_2016_09_01:118601006|SNOMEDCT_US_2016_09_01:128929007|SNOMEDCT_US_2016_09_01:134176000|SNOMEDCT_US_2016_09_01:154583006|SNOMEDCT_US_2016_09_01:188675007|SNOMEDCT_US_2016_09_01:190168009|SNOMEDCT_US_2016_09_01:1929004|SNOMEDCT_US_2016_09_01:269628007|SNOMEDCT_US_2016_09_01:271385002|SNOMEDCT_US_2016_09_01:63086004 C1854021 Cataract, central saccular, with sutural opacities CATARACT 25 | CATARACT, CENTRAL POUCH-LIKE, WITH SUTURAL OPACITIES | CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES | CCSSO | CTRCT25 | Cataract, Central Pouch-Like, With Sutural Opacities | Cataract, Central Saccular, With Sutural Opacities MSH2017_2016_08_12:C565301|OMIM2016_04_17:605728 C4072863 Dull foveal reflex Dull foveal reflex HPO2016_07_04:HP:0007750 C0265985 Mongolian spot Blue Sacral Spot | Blue Spot, Mongolian | Blue nevus | Blue sacral spot | Mongolian Blue Spot | Mongolian Macula | Mongolian Spot | Mongolian Spot [Disease/Finding] | Mongolian blue spot | Mongolian macula | Mongolian spot | Mongolian spot (disorder) | Mongolian spots | Mongolian spots (physical finding) | Mongolian spots were observed | Spot, Mongolian | Spots - mongolian | blue mongolian spots | mongolian blue spot | mongolian spot | mongolian spots HPO2016_07_04:Congenital deep dermal melanosis in the sacral area. [DDD:cmoss] | MSH2017_2016_08_12:A bluish-gray to gray-brown benign, melanocytic nevus found usually in the LUMBOSACRAL REGION of dark-skinned people, especially those of East Asian ancestry. It is usually congenital or appears shortly after birth, and disappears in childhood. | NCI2016_02D:A congenital mark on the skin near the base of the spine, consisting of scattered ectopic melanocytes in the dermis, that enlarges for a short time after birth and disappears during childhood. HPO2016_07_04:HP:0011369|HPO2016_07_04:HP:0100814|MSH2017_2016_08_12:D049328|SNOMEDCT_US_2016_09_01:157017000|SNOMEDCT_US_2016_09_01:268355000|SNOMEDCT_US_2016_09_01:40467008 C0155090 Keratitis; sclerosing Keratitis sclerosing | Sclerokeratitis | Sclerokeratitis (disorder) | Sclerosing keratitis | Sclerosing keratitis (disorder) | keratitis; sclerosing | sclerokeratitis | sclerokeratitis (diagnosis) | sclerosing; keratitis ICD10CM_2017:H16.33|ICD9CM_2014:370.54|SNOMEDCT_US_2016_09_01:194143001|SNOMEDCT_US_2016_09_01:27886001|SNOMEDCT_US_2016_09_01:417290008 C0036980 Shock, cardiogenic CARDIOGENIC SHOCK | Cardiac shock syndrome | Cardiogenic Shock | Cardiogenic shock | Cardiogenic shock (disorder) | Cardiovascular shock | Heart shock | Power failure syndrome | SHOCK CARDIOGENIC | Shock cardiogenic | Shock, Cardiogenic | Shock, Cardiogenic [Disease/Finding] | Shock, cardiogenic | [D]Cardiogenic shock | [D]Cardiogenic shock (context-dependent category) | [D]Cardiogenic shock (situation) | [D]Heart shock | cardiocirculatory collapse | cardiogenic shock | cardiogenic shock (diagnosis) | cardiogenic; shock | heart shock | heart shocking | shock cardiogenic | shock heart | shock; cardiogenic CSP2006:shock reulting from the failure of the heart to maintain adequate output. | HPO2016_07_04:Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume. [pmid:24188221] | MSH2017_2016_08_12:Shock resulting from diminution of cardiac output in heart disease. | NCI2016_02D:Shock resulting from primary failure of the heart in its pumping function, as in myocardial infarction, severe cardiomyopathy, or mechanical obstruction or compression of the heart. | NCI2016_FDA_1602D:Shock resulting from primary failure of the heart in its pumping function, as in myocardial infarction, severe cardiomyopathy, or mechanical obstruction or compression of the heart. HPO2016_07_04:HP:0030149|ICD10CM_2017:R57.0|ICD9CM_2014:785.51|MSH2017_2016_08_12:D012770|SNOMEDCT_US_2016_09_01:158355003|SNOMEDCT_US_2016_09_01:207027002|SNOMEDCT_US_2016_09_01:89138009 C0158599 Preauricular cyst PREAURICULAR CYST | Preauricular cyst | Preauricular cyst (disorder) | cyst; preauricular | cysts preauricular | preauricular cyst | preauricular cyst (diagnosis) | preauricular; cyst ICD9CM_2014:744.47|SNOMEDCT_US_2016_09_01:18820007 C0009451 Communicating hydrocephalus Communicating Hydrocephalus | Communicating hydrocephalus | Communicating hydrocephalus (disorder) | Communicating hydrocephalus (disorder) [Ambiguous] | HYDROCEPHALUS COMMUNICATING | HYDROCEPHALUS, COMMUNICATING | HYDROCEPHALY COMMUNICATIVE | Hydrocephalus, Communicating | Hydrocephalus, communicating | Hydrocephaly communicative | Non-Obstructive Hydrocephalus | communicating hydrocephalus | communicating; hydrocephalus | hydrocephalus; communicating | increased pressure communicating hydrocephalus | increased pressure communicating hydrocephalus (diagnosis) HPO2016_07_04:A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space. [eMedicine:1135286, HPO:probinson] | NCI2016_02D:An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations. | NCI2016_NICHD_1602D:An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations. HPO2016_07_04:HP:0001334|ICD10CM_2017:G91.0|ICD9CM_2014:331.3|MSH2017_2016_08_12:D006849|OMIM2016_04_17:MTHU037622|OMIM2016_04_17:MTHU043680|SNOMEDCT_US_2016_09_01:271569006|SNOMEDCT_US_2016_09_01:59013007 C0024031 Low back pain Ache, Low Back | Aches, Low Back | BACK PAIN LOWER BACK | BACK PAIN LUMBAR | BACK PAIN, LOWER | Back Ache, Low | Back Aches, Low | Back Pain, Low | Back Pain, Lower | Back Pains, Low | Back Pains, Lower | Backache, Low | Backaches, Low | LBP - Low back pain | LBP - low back pain | LOW BACK PAIN | LUMBAGO | LUMBAR PAIN | Low Back Ache | Low Back Aches | Low Back Pain | Low Back Pain [Disease/Finding] | Low Back Pains | Low Backache | Low Backaches | Low back ache | Low back derangement syndrome | Low back pain | Low back pain (disorder) | Low back pain (finding) | Low back syndrome | Lower Back Pain | Lower Back Pains | Lower back pain | Lumbago | Lumbago (disorder) | Lumbago (disorder) [Ambiguous] | Lumbago NOS | Lumbago syndrome | Lumbalgia | Lumbar pain | Nonspecific pain in the lumbar region | Pain, Low Back | Pain, Lower Back | Pain;back low | Pain;back;lumbar | Pains, Low Back | Pains, Lower Back | back; pain, low | backache lower | backache; low | dorsopathy low back pain | lbp | low back pain | low back pain (diagnosis) | low back pain (symptom) | low back pains | low back; pain | low backache | low; backache | lower back pain | lower back pains | lower backache | lower backache (diagnosis) | lumbago | lumbago (diagnosis) | lumbalgia | lumbar back pain | lumbar pain | lumbar pains | pain; back, low | pain; low back | syndrome; low back AOT2003:see:http://www.nlm.nih.gov/mesh/MBrowser.html | HPO2016_07_04:An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. [] | MSH2017_2016_08_12:Acute or chronic pain in the lumbar or sacral regions, which may be associated with musculo-ligamentous SPRAINS AND STRAINS; INTERVERTEBRAL DISK DISPLACEMENT; and other conditions. | NCI2016_02D:A sensation of discomfort emanating from the lower back. HPO2016_07_04:HP:0003419|ICD10CM_2017:M54.5|ICD9CM_2014:724.2|MSH2017_2016_08_12:D017116|OMIM2016_04_17:MTHU037149|OMIM2016_04_17:MTHU038365|SNOMEDCT_US_2016_09_01:139421003|SNOMEDCT_US_2016_09_01:156648004|SNOMEDCT_US_2016_09_01:156651006|SNOMEDCT_US_2016_09_01:202793005|SNOMEDCT_US_2016_09_01:267169009|SNOMEDCT_US_2016_09_01:268083007|SNOMEDCT_US_2016_09_01:279039007|SNOMEDCT_US_2016_09_01:40709005 C0406358 Recurr focal palmar peel Desquamation en aires | Periodic palmar peeling | Recurr focal palmar peel | Recurrent focal palmar peeling | Recurrent focal palmar peeling (disorder) | Summer keratolysis | [D]Periodic palmar peeling | [D]Recurr focal palmar peel | [D]Recurrent focal palmar peeling | [D]Recurrent focal palmar peeling (context-dependent category) | [D]Recurrent focal palmar peeling (situation) SNOMEDCT_US_2016_09_01:206911002|SNOMEDCT_US_2016_09_01:238644003|SNOMEDCT_US_2016_09_01:312360009 C1283400 Butyrylcholinesterase deficiency Acylcholine acylhydrolase deficiency | BUTYRYLCHOLINESTERASE DEFICIENCY | Butyrylcholinesterase deficiency | Deficiency of butyrylcholine esterase | Deficiency of butyrylcholine esterase (disorder) | Pseudocholinesterase E1 deficiency MSH2017_2016_08_12:C537417|OMIM2016_04_17:177400|SNOMEDCT_US_2016_09_01:124415006|SNOMEDCT_US_2016_09_01:191397007|SNOMEDCT_US_2016_09_01:360589003 C0431289 Encephalocele, frontal Encephalocele, Frontal | Encephaloceles, Frontal | Frontal Encephalocele | Frontal Encephaloceles | Frontal encephalocele | Frontal encephalocele (disorder) | encephalocele frontal | encephalocele; frontal | frontal encephalocele | frontal encephalocele (diagnosis) | frontal; encephalocele HPO2016_07_04:HP:0007330|ICD10CM_2017:Q01.0|MSH2017_2016_08_12:D004677|OMIM2016_04_17:MTHU037938|SNOMEDCT_US_2016_09_01:204025001|SNOMEDCT_US_2016_09_01:253103006 C1335690 Rectal squamous carcinoma Rectal Squamous Carcinoma | Rectal Squamous Cell Carcinoma | Squamous Carcinoma of Rectum | Squamous Carcinoma of the Rectum | Squamous Cell Carcinoma of Rectum | Squamous Cell Carcinoma of the Rectum | Squamous cell carcinoma of rectum | squamous cell carcinoma of rectum | squamous cell carcinoma of rectum (diagnosis) NCI2016_02D:A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate. C0241880 Endometriosis of pelvis ENDOMETRIOSIS, PELVIC | Endometriosis of pelvis | Endometriosis of pelvis (disorder) | Endometriosis of pelvis, NOS | Pelvic endometriosis | Pelvic endometriosis, NOS | endometriosis pelvic | pelvic endometriosis SNOMEDCT_US_2016_09_01:26681001 C1336478 Stage i renal pelvis and ureter cancer Stage I Renal Pelvis and Ureter Cancer | Stage I Renal Pelvis and Ureter Carcinoma | Stage I Renal Pelvis and Ureter Carcinoma AJCC v7 | stage I transitional cell cancer of the renal pelvis and ureter NCI2016_02D:Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.) | NCI2016_NCI-GLOSS_1602D:Cancer has spread through the lining of the renal pelvis and/or ureter, into the layer of connective tissue. C0235259 Subcapsular cataract CATARACT SUBCAPSULAR | Cataract subcapsular | Subcapsular cataract | Subcapsular cataract (disorder) | Subcapsular cataract, NOS | Subcapsular cataracts | Subcapsular lenticular cataracts | Subcapsular opacities | cataract subcapsular | cataracts subcapsular | subcapsular cataract | subcapsular cataract (diagnosis) HPO2016_07_04:A cataract that affects the region of the lens directly beneath the capsule of the lens. [HPO:probinson] HPO2016_07_04:HP:0000523|OMIM2016_04_17:MTHU005721|OMIM2016_04_17:MTHU006254|OMIM2016_04_17:MTHU008982|SNOMEDCT_US_2016_09_01:95723009 C3151431 Atrial fibrillation, familial, 9 ATFB9 | ATRIAL FIBRILLATION, FAMILIAL, 9 | atrial fibrillation familial 9 | atrial fibrillation familial 9 (diagnosis) OMIM2016_04_17:600681|OMIM2016_04_17:613980 C0339166 Gonococcal conjunctivitis Conjunctivitis Gonococcal | Conjunctivitis gonococcal neonatal | GONOCOCCAL CONJUNCTIVITIS | Gonococcal Conjunctivitis | Gonococcal Ophthalmia Neonatorum | Gonococcal conjunctivitis | Gonococcal conjunctivitis (disorder) | Gonococcal conjunctivitis (neonatorum) | Gonococcal conjunctivitis neonatorum | Gonococcal conjunctivitis neonatorum (disorder) | Gonococcal neonatal conjunctivitis | Gonococcal ophthalmia | Gonococcal ophthalmia neonatorum | Neisseria gonorrheae neonatal conjunctivitis | Neisseria gonorrhoeae neonatal conjunctivitis | Neonatal gonococcal conjunctivitis | Neonatorum gonococcal conjunctivitis | Ophthalmia Neonatorum | Opthalmia neonatorum caused by Neisseria | conjunctivitis gonococcal | gonococcal conjunctivitis | gonococcal conjunctivitis (diagnosis) | gonococcal conjunctivitis neonatorum (diagnosis) | gonococcal ophthalmia | neonatorum; ophthalmia, gonococcal (etiology) | neonatorum; ophthalmia, gonococcal (manifestation) | ophthalmia; neonatorum, gonococcal (etiology) | ophthalmia; neonatorum, gonococcal (manifestation) MSH2017_2016_08_12:Acute conjunctival inflammation in the newborn, usually caused by maternal gonococcal infection. The causative agent is NEISSERIA GONORRHOEAE. The baby's eyes are contaminated during passage through the birth canal. | NCI2016_02D:Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery. | NCI2016_NICHD_1602D:Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery. ICD10CM_2017:A54.31|ICD9CM_2014:098.40|MSH2017_2016_08_12:D009878|SNOMEDCT_US_2016_09_01:231858009|SNOMEDCT_US_2016_09_01:28438004 C1838437 Venous malformations, multiple cutaneous and mucosal Mucocutaneous Venous Malformations | Mucocutaneous venous malformations | Multiple Cutaneous and Mucosal Venous Malformations | Multiple cutaneous and mucosal venous malformation | Multiple venous malformation of skin and mucous membrane | Multiple venous malformation of skin and mucous membrane (disorder) | VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL | VMCM | VMCM1 | Venous Malformations, Multiple Cutaneous and Mucosal | Vmcm1 MSH2017_2016_08_12:C563977|OMIM2016_04_17:600195|OMIM2016_04_17:600221|SNOMEDCT_US_2016_09_01:699301008 C0015300 Exophthalmos Anterior bulging of the globe | Anterior bulging of the globe of eye | Bulging eye | Bulging eyes | EXOPHTHALMOS | Exophthalmia | Exophthalmos | Exophthalmos (disorder) | Exophthalmos NOS | Exophthalmos [Disease/Finding] | Exophthalmos, NOS | Exophthalmos, unspecified | Exophthalmus | Eye bulging | Eye displaced forwards | Eyeballs bulging out | OCULAR PROPTOSIS | Ocular proptosis | PROPTOSIS | Prolapsed globe | Proptoses | Proptosis | Proptosis, NOS | Unspecified exophthalmos | bulging eye | bulging eyes | exophthalmia | exophthalmos | exophthalmos (diagnosis) | eyes bulging out | eyes bulging out (symptom) | eyes bulging out as symptom | proptosis | proptosis (physical finding) CSP2006:protrusion of one or both eyeballs; can be congenital and familial, or due to pathology, such as a retroorbital tumor (usually unilateral) or thyroid disease (usually bilateral). | HPO2016_07_04:An eye that is protruding anterior to the plane of the face to a greater extent than is typical. [HPO:sdoelken, pmid:19125427] | MSH2017_2016_08_12:Abnormal protrusion of both eyes; may be caused by endocrine gland malfunction, malignancy, injury, or paralysis of the extrinsic muscles of the eye. | NCI2016_02D:Abnormal protrusion of one or both eyes from the socket; causes include hyperthyroidism (particularly Graves disease); bleeding behind the eye; infection, inflammation, or tumors of the orbit; and vascular disorders. | NCI2016_02D:The anterior displacement of the eye within the orbit, giving a bulging appearance. | NCI2016_NICHD_1602D:The anterior displacement of the eye within the orbit. HPO2016_07_04:HP:0000520|ICD10CM_2017:H05.20|ICD9CM_2014:376.30|MSH2017_2016_08_12:D005094|OMIM2016_04_17:MTHU001173|OMIM2016_04_17:MTHU004615|OMIM2016_04_17:MTHU005786|OMIM2016_04_17:MTHU014889|OMIM2016_04_17:MTHU016288|OMIM2016_04_17:MTHU019358|SNOMEDCT_US_2016_09_01:155200004|SNOMEDCT_US_2016_09_01:18265008|SNOMEDCT_US_2016_09_01:267746003 C0687149 Pure gonadal dysgenesis Pure gonadal dysgenesis | Pure gonadal dysgenesis (disorder) | Pure gonadal dysgenesis, NOS | dysgenesis; gonadal, pure | gonadal; dysgenesis, pure | pure gonadal dysgenesis | pure gonadal dysgenesis (diagnosis) HPO2016_07_04:HP:0000133|ICD10CM_2017:Q99.1|OMIM2016_04_17:MTHU036762|SNOMEDCT_US_2016_09_01:204896005|SNOMEDCT_US_2016_09_01:52572004|SNOMEDCT_US_2016_09_01:95219002 C0343267 Hand reflex sympathetic dystrophy Algodystrophy of hand | Algodystrophy of hand (disorder) | HAND REFLEX SYMPATHETIC DYSTROPHY | Reflex sympathetic dystrophy (RSD), hand | Reflex sympathetic dystrophy of hand | complex regional pain syndrome type I of the hand | complex regional pain syndrome type I of the hand (diagnosis) SNOMEDCT_US_2016_09_01:203493003 C1456145 Dental caries on smooth surface Dental caries of smooth surface | Dental caries on smooth surface ICD10CM_2017:K02.6|ICD9CM_2014:521.07 C0342870 Bifunctional peroxisomal enzyme deficiency 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY | 17-beta-hydroxysteroid dehydrogenase 4, deficiency of | Bifunctional peroxisomal enzyme deficiency | Bifunctional peroxisomal enzyme deficiency (disorder) | D-BIFUNCTIONAL PROTEIN DEFICIENCY | D-Bifunctional Enzyme Deficiency | D-Bifunctional Protein Deficiency | DBP DEFICIENCY | Multifunctional Enzyme Deficiency | PBFE DEFICIENCY | PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY | Peroxisomal Multifunctional Enzyme (MFE2) Deficiency | Peroxisomal Multifunctional Enzyme Deficiency | Peroxisomal bifunctional enzyme complex deficiency | Peroxisomal bifunctional enzyme deficiency | Pseudo-Zellweger Syndrome NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutation in the HSD17B4 gene. It is characterized by neurodegeneration that begins in infancy, hypotonia, and seizures. The majority of the affected individuals lack developmental skills. MSH2017_2016_08_12:C537286|OMIM2016_04_17:261515|OMIM2016_04_17:601860|SNOMEDCT_US_2016_09_01:238068007 C0495499 Congenital absence, atresia and stricture of auditory canal (external) Atresia or stricture of auditory canal | Atresia or stricture of external auditory canal | Congenital absence, atresia and stricture of auditory canal (external) ICD10CM_2017:Q16.1 C0521480 Phytophotodermatitis, nos Dermatitis bullosa et striata pratensis | Dermatitis bullosa striata pratensis | Meadow dermatitis | Meadow grass dermatitis | Phytophlyctodermatitis | Phytophotodermatitis | Phytophotodermatitis (disorder) | Phytophotodermatitis caused by topical exposure to furocoumarin | Phytophotodermatitis caused by topical exposure to furocoumarin (disorder) | Phytophotodermatitis due to topical exposure to furocoumarin | Phytophotodermatitis due to topical exposure to furocoumarin (disorder) | Phytophotodermatitis, NOS | Plant photodermatitis | dermatitis bullosa striata pratensis | dermatitis bullosa striata pratensis (diagnosis) | phytophotodermatitis | phytophotodermatitis (diagnosis) SNOMEDCT_US_2016_09_01:238521005|SNOMEDCT_US_2016_09_01:44483004|SNOMEDCT_US_2016_09_01:95349002 C3241937 Nonalcoholic steatohepatitis NASH - Nonalcoholic Steatohepatitis | NASH - Nonalcoholic steatohepatitis | Non-alcoholic steatohepatitis | Nonalcoholic Steatohepatitides | Nonalcoholic Steatohepatitis | Nonalcoholic steatohepatitis | Nonalcoholic steatohepatitis (NASH) | Nonalcoholic steatohepatitis (disorder) | Steatohepatitides, Nonalcoholic | Steatohepatitis, Nonalcoholic | Steatohepatitis, non-alcoholic | nonalcoholic steatohepatitis | nonalcoholic steatohepatitis (diagnosis) NCI2016_02D:Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure. ICD10CM_2017:K75.81|MSH2017_2016_08_12:D065626|SNOMEDCT_US_2016_09_01:442685003 C1533040 Primary acquired melanosis of conjunctiva without atypia Primary acquired melanosis of conjunctiva without atypia | Primary acquired melanosis of conjunctiva without atypia (disorder) SNOMEDCT_US_2016_09_01:415175000 C3553660 Sotos syndrome 2 SOTOS SYNDROME 2 | SOTOS2 OMIM2016_04_17:164005|OMIM2016_04_17:614753 C0037301 Skin wrinkling Cutaneous wrinkling | Premature skin wrinkling | Rugosity of skin | SKIN WRINKLING | Skin Wrinkling | Skin Wrinklings | Skin wrinkled | Skin wrinkling | Wrinkled appearance | Wrinkled skin | Wrinkled skin (finding) | Wrinkles | Wrinkling | Wrinkling of skin | Wrinkling, Skin | rhytide | rhytides | skin wrinkle | skin wrinkles | skin wrinkling | wrinkle | wrinkle skin | wrinkled | wrinkled skin | wrinkled skin (physical finding) | wrinkles | wrinkling HPO2016_07_04:The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. [HPO:probinson] HPO2016_07_04:HP:0100678|MSH2017_2016_08_12:D015595|OMIM2016_04_17:MTHU052352|SNOMEDCT_US_2016_09_01:247434009 C0409787 Villonod.synovitis-upper arm Villonod.synovitis-upper arm | Villonodular synovitis involving upper arm | Villonodular synovitis of the upper arm | Villonodular synovitis of the upper arm (disorder) | Villonodular synovitis, upper arm ICD9CM_2014:719.22|SNOMEDCT_US_2016_09_01:202425008 C1853396 Primary lateral sclerosis juvenile Juvenile Primary Lateral Sclerosis | PLS, JUVENILE | PLSJ | PRIMARY LATERAL SCLEROSIS, JUVENILE | Primary Lateral Sclerosis, Juvenile | Primary lateral sclerosis juvenile MSH2017_2016_08_12:C536416|OMIM2016_04_17:606352|OMIM2016_04_17:606353 C3554462 Mitochondrial dna depletion syndrome 11 MITOCHONDRIAL DNA DEPLETION SYNDROME 11 | MTDPS11 OMIM2016_04_17:615076|OMIM2016_04_17:615084 C4023209 Dexamethasone-suppresible primary hyperaldosteronism Dexamethasone-suppresible primary hyperaldosteronism HPO2016_07_04:A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone. [DDD:spark, HPO:probinson] HPO2016_07_04:HP:0011739 C1834405 Nail dysplasia Dysplastic nails | Nail dysplasia | Onychodysplasia HPO2016_07_04:The presence of developmental dysplasia of the nail. [HPO:probinson] HPO2016_07_04:HP:0002164|OMIM2016_04_17:MTHU001763|OMIM2016_04_17:MTHU005092|OMIM2016_04_17:MTHU013231 C1858626 Renal bicarbonate wasting Bicarbonate-wasting renal tubular acidosis | Renal bicarbonate wasting HPO2016_07_04:HP:0004910|OMIM2016_04_17:MTHU004891 C1332341 Asymmetric motor neuropathy Asymmetric Motor Neuropathy C1861106 Thyrotropin releasing hormone resistance, generalized THYROTROPIN-RELEASING HORMONE RESISTANCE, GENERALIZED | Thyrotropin-Releasing Hormone Resistance, Generalized MSH2017_2016_08_12:C566049|OMIM2016_04_17:188545 C1864068 Diabetes mellitus, insulin-dependent, 17 DIABETES MELLITUS, INSULIN-DEPENDENT, 17 | Diabetes Mellitus, Insulin-Dependent, 17 | IDDM17 | INSULIN-DEPENDENT DIABETES MELLITUS 17 | Insulin-Dependent Diabetes Mellitus 17 MSH2017_2016_08_12:C566395|OMIM2016_04_17:603266 C0271060 Pseudocyst; retina Pseudocyst of retina | Pseudocyst of retina (disorder) | pseudocyst; retina | retina; pseudocyst | retinal pseudocyst | retinal pseudocyst (diagnosis) ICD10CM_2017:H33.19|SNOMEDCT_US_2016_09_01:193335008|SNOMEDCT_US_2016_09_01:67638006 C0206609 Flaviviridae infections Disease caused by Flaviviridae | Disease caused by Flaviviridae (disorder) | Disease due to Flaviviridae | Disease due to Flaviviridae (disorder) | Flaviviridae Infection | Flaviviridae Infections | Flaviviridae Infections [Disease/Finding] | Infection, Flaviviridae | Infections, Flaviviridae MSH2017_2016_08_12:Infections with viruses of the family FLAVIVIRIDAE. | MSHFRE2016:Infections virales dues aux virus de la famille des Flaviviridae MSH2017_2016_08_12:D018178|SNOMEDCT_US_2016_09_01:414014001 C0085313 Blastocystis infection Blastocystis Infection | Blastocystis Infections | Blastocystis Infections [Disease/Finding] | Blastocystis hominis infection | Blastocystis hominis infection (disorder) | Blastocystis infection | Blastocystis infections | Infection, Blastocystis | Infections, Blastocystis MSH2017_2016_08_12:Infections with organisms of the genus BLASTOCYSTIS. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in AIDS patients and other immunosuppressed patients (IMMUNOCOMPROMISED HOST). Symptoms include ABDOMINAL PAIN; DIARRHEA; CONSTIPATION; VOMITING; and FATIGUE. MSH2017_2016_08_12:D016776|SNOMEDCT_US_2016_09_01:421204004 C1836876 Pierson syndrome MICROCORIA-CONGENITAL NEPHROTIC SYNDROME | Microcoria and congenital nephrotic syndrome | Microcoria-Congenital Nephrotic Syndrome | PIERSON SYNDROME | Pierson syndrome MSH2017_2016_08_12:C537185|OMIM2016_04_17:150325|OMIM2016_04_17:609049 C0751738 Lysosomal storage diseases, nervous system Lysosomal Enzyme Disorders, Nervous System | Lysosomal Storage Diseases, Nervous System | Lysosomal Storage Diseases, Nervous System [Disease/Finding] | Nervous System Lysosomal Enzyme Disorders | Nervous System Lysosomal Storage Diseases MSH2017_2016_08_12:A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes. MSH2017_2016_08_12:D020140 C0008476 Chondromatosis, synovial Chondromatoses, Synovial | Chondromatosis, Synovial | Chondromatosis, Synovial [Disease/Finding] | Chondrometaplasia, Synovial | Chondrometaplasias, Synovial | Henderson Jones Syndrome | Henderson-Jones Syndrome | Primary synovial chondromatosis | Primary synovial chondromatosis (morphologic abnormality) | Reichel Syndrome | Reichel's Syndrome | Reichels Syndrome | Syndrome, Henderson-Jones | Syndrome, Reichel's | Synovial Chondromatoses | Synovial Chondromatosis | Synovial Chondrometaplasia | Synovial Chondrometaplasias | Synovial chondromatosis | Synovial chondromatosis (disorder) | synovial chondromatosis | synovial chondromatosis of joint | synovial chondromatosis of joint (diagnosis) | synovial chondrometaplasia MSH2017_2016_08_12:Rare, benign, chronic, progressive metaplasia in which cartilage is formed in the synovial membranes of joints, tendon sheaths, or bursae. Some of the metaplastic foci can become detached producing loose bodies. When the loose bodies undergo secondary calcification, the condition is called synovial osteochondromatosis. | NCI2016_02D:An uncommon, benign cartilaginous neoplasm usually occurring in adults. The nodular tumor arises from the synovial membranes of joints. It is characterized by the presence of chondrocytes, nuclear pleomorphism, and hyaline cartilage differentiation. Clinical presentation may include joint pain, swelling, and limited range of motion. MSH2017_2016_08_12:D015838|SNOMEDCT_US_2016_09_01:133850008|SNOMEDCT_US_2016_09_01:240207006|SNOMEDCT_US_2016_09_01:66467005 C3494534 Late effects of cerebrovascular accident Late effects of cerebrovascular accident | Late effects of cerebrovascular accident (disorder) | Sequela of cerebrovascular accident | Sequela of cerebrovascular accident (disorder) SNOMEDCT_US_2016_09_01:1131000119105 C4228933 Limited jaw mobility Decrease in jaw mobility | Decrease in jaw movement | Decrease in mandibular mobility | Decrease in mandibular movement | Limited jaw mobility | Limited jaw movement | Limited mandibular mobility HPO2016_07_04:HP:0000211|OMIM2016_04_17:MTHU051580 C1377844 Cystadenofibroma; mucinous, unspecified site Mucinous Cystadenofibroma | Mucinous cystadenofibroma | cystadenofibroma; mucinous, unspecified site | mucinous; cystadenofibroma, unspecified site NCI2016_02D:A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma. SNOMEDCT_US_2016_09_01:10705005 C0271905 Methemoglobinemia, acquired Acquired Methemoglobinemia | Acquired methaemoglobinaemia | Acquired methemoglobinemia | Acquired methemoglobinemia (disorder) | Acquired methemoglobinemia (disorder) [Ambiguous] | Acquired methemoglobinemia [dup] (disorder) | Methemoglobinemia, acquired | acquired; methemoglobinemia | methemoglobinemia; acquired NCI2016_02D:Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene) and nitrate-rich foods. SNOMEDCT_US_2016_09_01:191392001|SNOMEDCT_US_2016_09_01:295315008|SNOMEDCT_US_2016_09_01:8565007 C0004608 Background retinopathy Background retinopathy | Background retinopathy (disorder) | Background retinopathy unspec. | Background retinopathy, NOS | Background retinopathy, unspecified | Retinopathy background | Unspecified background retinopathy | Unspecified background retinopathy (disorder) | background retinopathy ICD10CM_2017:H35.00|ICD9CM_2014:362.10|SNOMEDCT_US_2016_09_01:193355009|SNOMEDCT_US_2016_09_01:31411005|SNOMEDCT_US_2016_09_01:42873008 C2673218 Brain tumor polyposis syndrome 2 (disorder) BRAIN TUMOR-POLYPOSIS SYNDROME 2 | BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder) | BTPS2 | Brain Tumor-Polyposis Syndrome 2 MSH2017_2016_08_12:C566778|OMIM2016_04_17:175100|OMIM2016_04_17:611731 C0346378 Ciliary body medulloepithelioma Ciliary Body Medulloepithelioma | Malignant medulloepithelioma of ciliary body | Malignant medulloepithelioma of ciliary body (disorder) | Medulloepithelioma of Ciliary Body | Medulloepithelioma of ciliary body | Medulloepithelioma of ciliary body (disorder) | Medulloepithelioma of the Ciliary Body | malignant medulloepithelioma of ciliary body | malignant medulloepithelioma of ciliary body (diagnosis) NCI2016_02D:A medulloepithelioma arising from the ciliary body of the uvea. SNOMEDCT_US_2016_09_01:255014005|SNOMEDCT_US_2016_09_01:416901002 C4280886 Disorder of left lower extremity Disorder of left lower extremity | Disorder of left lower extremity (disorder) SNOMEDCT_US_2016_09_01:451431000124104 C1837616 Primary ciliary dyskinesia, 4 CILD4 | CILIARY DYSKINESIA, PRIMARY, 4 | CILIARY DYSKINESIA, PRIMARY, 4, WITH OR WITHOUT SITUS INVERSUS | Ciliary Dyskinesia, Primary, 4 | Ciliary Dyskinesia, Primary, 4, with or without Situs Inversus | Primary ciliary dyskinesia, 4 MSH2017_2016_08_12:C535279|OMIM2016_04_17:608646 C1838568 Sacral defect and anterior sacral meningocele SACRAL DEFECT WITH ANTERIOR MENINGOCELE | SDAM | Sacral Defect with Anterior Meningocele | Sacral defect and anterior sacral meningocele | Sacral defect anterior meningocele MSH2017_2016_08_12:C537221|OMIM2016_04_17:600145 C0457013 Weyers acrofacial dysostosis ACRODENTAL DYSOSTOSIS OF WEYERS | Acrodental dysostosis of Weyers | Acrofacial dysostosis of Weyers | CURRY-HALL SYNDROME | Curry Hall syndrome | Curry-Hall syndrome | Curry-Hall syndrome (disorder) | WAD | WEYERS ACRODENTAL DYSOSTOSIS | WEYERS ACROFACIAL DYSOSTOSIS | Weyers acrodental dysostosis | Weyers acrofacial dysostosis MSH2017_2016_08_12:C536695|OMIM2016_04_17:193530|OMIM2016_04_17:604831|OMIM2016_04_17:607261|SNOMEDCT_US_2016_09_01:277807007 C0597124 Obstructive asymmetric septal hypertrophy Obstructive Asymmetric Septal Hypertrophy | Obstructive asymmetric septal hypertrophy | obstructive asymmetric septal hypertrophy MSH2017_2016_08_12:D024741 C2677650 Decreased mitochondrial complex i activity Decreased activity of mitochondrial complex I | Decreased mitochondrial complex I activity HPO2016_07_04:A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. [HPO:probinson] HPO2016_07_04:HP:0011923|OMIM2016_04_17:MTHU022593 C0338508 Optic atrophy, autosomal dominant Atrophies, Juvenile Optic | Atrophies, Kjer-Type Optic | Atrophy, Juvenile Optic | Atrophy, Kjer's Optic | Atrophy, Kjer-Type Optic | Autosomal Dominant Optic Atrophy | Autosomal Dominant Optic Atrophy Kjer Type | Autosomal dominant optic atrophy | Autosomal dominant optic atrophy Kjer type | Autosomal dominant optic atrophy classic form | Autosomal dominant optic atrophy classic form (disorder) | Dominant Optic Atrophies | Dominant Optic Atrophy | Dominant hereditary optic atrophy | Dominant hereditary optic atrophy (diagnosis) | Dominant hereditary optic atrophy (disorder) | Juvenile Optic Atrophies | Juvenile Optic Atrophy | KJER-TYPE OPTIC ATROPHY | Kjer Optic Atrophy | Kjer Type Optic Atrophy | Kjer optic atrophy | Kjer's Optic Atrophy | Kjer-Type Optic Atrophies | Kjer-Type Optic Atrophy | Kjers Optic Atrophy | OAK | OPA1 | OPTIC ATROPHY 1 | OPTIC ATROPHY, JUVENILE | OPTIC ATROPHY, KJER TYPE | Optic Atrophies, Dominant | Optic Atrophies, Juvenile | Optic Atrophies, Kjer-Type | Optic Atrophy 1 | Optic Atrophy 1s | Optic Atrophy Type 1 | Optic Atrophy, Autosomal Dominant | Optic Atrophy, Autosomal Dominant [Disease/Finding] | Optic Atrophy, Dominant | Optic Atrophy, Hereditary, Autosomal Dominant | Optic Atrophy, Juvenile | Optic Atrophy, Kjer Type | Optic Atrophy, Kjer's | Optic Atrophy, Kjer-Type | Optic atrophy type 1 | Optic atrophy, dominant hereditary | optic atrophy hereditary dominant MSH2017_2016_08_12:Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria. | NCI2016_02D:An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss. | SNOMEDCT_US_2016_09_01:One of the most common forms of hereditary optic neuropathy characterised by progressive bilateral visual loss during the first decade of life associated with optic disc pallor, visual field and colour vision defects. Later onset is possible. Visual impairment is usually moderate but may range from mild to severe. In about 20% of cases, extra-ocular signs are present, such as sensorineural hearing loss or other more severe neurological signs. Transmission is autosomal dominant with a penetrance of 50%. | SNOMEDCT_US_2016_09_01:One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life associated with optic disc pallor, visual field and color vision defects. Later onset is possible. Visual impairment is usually moderate but may range from mild to severe. In about 20% of cases, extra-ocular signs are present, such as sensorineural hearing loss or other more severe neurological signs. Transmission is autosomal dominant with a penetrance of 50%. MSH2017_2016_08_12:D029241|OMIM2016_04_17:165500|OMIM2016_04_17:605290|SNOMEDCT_US_2016_09_01:2065009|SNOMEDCT_US_2016_09_01:717336005 C4225305 Leukodystrophy, hypomyelinating, 11 HLD11 | LEUKODYSTROPHY, HYPOMYELINATING, 11 OMIM2016_04_17:610060|OMIM2016_04_17:616494 C0006840 Candidiasis CANDIDIASIS | Candida NOS | Candida infection | Candida infections | Candidal infection NOS | Candidiases | Candidiasis | Candidiasis (disorder) | Candidiasis NOS | Candidiasis NOS (disorder) | Candidiasis [Disease/Finding] | Candidiasis of unspecified site | Candidiasis, NOS | Candidiasis, unspecified | Candidosis | Candidosis, NOS | Infection by Candida species | MONILIASIS | MONILIASIS MONILIA | Monilia NOS | Monilia infection | Monilial infection | Moniliases | Moniliasis | Moniliasis NOS | Moniliasis monilia | Moniliasis, NOS | Muguet | Thrush | [X]Candidiasis, unspecified | [X]Candidiasis, unspecified (disorder) | candida infection | candida infections | candida; infection | candidal infection | candidal infections | candidiases | candidiasis | candidiasis (diagnosis) | candidosis | infection; candidal | infection; monilia | monilia infection | monilia; infection | monilial infection | moniliasis | muguet | thrush CSP2006:infection with a fungus of the genus Candida; usually a superficial infection of the moist areas of the body and is generally caused by Candida albicans; includes chronic mucocutaneous candidiasis, cutaneous candidiasis, oral candidiasis (thrush), and monilial vaginitis. | MSH2017_2016_08_12:Infection with a fungus of the genus CANDIDA. It is usually a superficial infection of the moist areas of the body and is generally caused by CANDIDA ALBICANS. (Dorland, 27th ed) | NCI2016_NCI-GLOSS_1602D:A condition in which Candida albicans, a type of yeast, grows out of control in moist skin areas of the body. It is usually a result of a weakened immune system, but can be a side effect of chemotherapy or treatment with antibiotics. Thrush usually affects the mouth (oral thrush); however, rarely, it spreads throughout the entire body. ICD10CM_2017:B37|ICD10CM_2017:B37.9|ICD9CM_2014:112|ICD9CM_2014:112.9|MSH2017_2016_08_12:D002177|OMIM2016_04_17:MTHU042170|OMIM2016_04_17:MTHU047818|SNOMEDCT_US_2016_09_01:154403005|SNOMEDCT_US_2016_09_01:187005005|SNOMEDCT_US_2016_09_01:187024008|SNOMEDCT_US_2016_09_01:187478002|SNOMEDCT_US_2016_09_01:78048006 C1112530 Leukoplakia and other disturbances of oral epithelium, including tongue Leukoplakia and other disturbances of oral epithelium, including tongue | Leukoplakia of oral mucosa, incl tongue | Leukoplakia of oral mucosa, including tongue | erythroplakia; oral epithelium and tongue | leukoplakia; buccal cavity | leukoplakia; oral epithelium | oral epithelium; leukoplakia ICD10CM_2017:K13.2|ICD10CM_2017:K13.21|ICD9CM_2014:528.6 C1857333 Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia | Congenital profound sensorineural deafness and oligodontia | DEAFNESS-OLIGODONTIA SYNDROME | Deafness and oligodontia syndrome | Deafness and oligodontia syndrome (disorder) | Deafness oligodontia syndrome | Deafness-Oligodontia Syndrome SNOMEDCT_US_2016_09_01:Rare syndrome with manifestation of sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Transmission appears to be autosomal recessive. MSH2017_2016_08_12:C538049|OMIM2016_04_17:221740|SNOMEDCT_US_2016_09_01:715527006 C1520093 Vulvar proximal-type epithelioid sarcoma Vulvar Proximal-Type Epithelioid Sarcoma NCI2016_02D:An epithelioid sarcoma of the proximal type involving the vulva. C4280269 Noncancerous mole Noncancerous mole HPO2016_07_04:HP:0000995 C1861373 Y-shaped metacarpals Y-shaped long bone of hand | Y-shaped metacarpals HPO2016_07_04:Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly. [HPO:curators] HPO2016_07_04:HP:0006042|OMIM2016_04_17:MTHU015422 C0149697 Foot injury wound nos FOOT INJURY | FOOT INJURY WOUND NOS | Foot Injuries | Foot Injuries [Disease/Finding] | Foot Injury | Foot injury | Foot injury (disorder) | Foot--Wounds and injuries | Injuries, Foot | Injury of foot | Injury of foot (disorder) | Injury, Foot | Injury;foot/feet | disorders foot injuries | foot injuries | foot injury | foot/feet injury | foot; injury | foot; wound | injuries foot | injury foot | injury of foot | injury of foot (diagnosis) | injury; foot | of foot injury | wound of foot | wound of foot (physical finding) | wound; foot MSH2017_2016_08_12:General or unspecified injuries involving the foot. MSH2017_2016_08_12:D018409|SNOMEDCT_US_2016_09_01:125604000|SNOMEDCT_US_2016_09_01:390014004 C4020968 Abnormal localization of kidney Abnormal localisation of kidneys | Abnormal localization of kidney HPO2016_07_04:An abnormal site of the kidney. [HPO:probinson] HPO2016_07_04:HP:0100542 C1862941 Amyotrophic lateral sclerosis, sporadic AMYOTROPHIC LATERAL SCLEROSIS, SPORADIC | Amyotrophic Lateral Sclerosis, Sporadic MSH2017_2016_08_12:C531617|OMIM2016_04_17:105400 C4025040 Abnormality of the femoral metaphysis Abnormality of the femoral metaphysis HPO2016_07_04:An anomaly of the femoral metaphysis. [HPO:probinson] HPO2016_07_04:HP:0006489 C0271576 Immunoglobulinemia with isolated somatotropin deficiency Fleischer syndrome | Growth hormone deficiency with hypogammaglobulinaemia | Growth hormone deficiency with hypogammaglobulinemia | Immunoglobulinaemia with isolated somatotropin deficiency | Immunoglobulinemia with isolated somatotropin deficiency | Immunoglobulinemia with isolated somatotropin deficiency (disorder) | immunoglobulinemia with isolated somatotropin deficiency (diagnosis) SNOMEDCT_US_2016_09_01:7990002 C2931219 Dysmorphic facial features and multiple structural abnormalities Dysmorphic facial features and multiple structural abnormalities | Dysmorphism multiple structural anomalies | Thakker Donnai syndrome MSH2017_2016_08_12:C536503 C1859443 Severe osteoporosis Osteoporosis, severe | Severe generalized osteoporosis | Severe osteoporosis | Severe, generalized osteoporosis HPO2016_07_04:Severe degree of osteoporosis. [HPO:curators] HPO2016_07_04:HP:0005897|OMIM2016_04_17:MTHU010371|OMIM2016_04_17:MTHU014153|OMIM2016_04_17:MTHU030554 C1708788 Lung typical carcinoid tumor Lung Typical Carcinoid Tumor NCI2016_02D:A carcinoid tumor of the lung characterized by the absence of necrosis and the presence of less than 2 mitoses per 10 high power fields. C3889474 Bardet-biedl syndrome 16 BARDET-BIEDL SYNDROME 16 | BBS16 OMIM2016_04_17:613524|OMIM2016_04_17:615993 C1998254 Myoclonus of tensor tympani muscle Myoclonus of tensor tympani muscle | Myoclonus of tensor tympani muscle (disorder) | Myoclonus tensor tympani muscle | Tensor tympani myoclonus SNOMEDCT_US_2016_09_01:427789001 C2931828 Keratoderma and spastic paralysis Keratoderma and spastic paralysis | Powell Venencie Gordon syndrome | Punctate keratoderma and spastic paralysis MSH2017_2016_08_12:C538358 C1704429 Hypoalphalipoproteinemia, familial ALPHA LIPOPROTEIN DEFICIENCY | FHA | Familial HDL deficiency | Familial High Density Lipoprotein Deficiency Disease | Familial High-Density Lipoprotein Deficiency Disease | Familial Hypoalphalipoproteinemia | Familial Hypoalphalipoproteinemias | Familial alpha Lipoprotein Deficiency Disease | Familial alpha-Lipoprotein Deficiency Disease | Familial high density lipoprotein deficiency | Familial high density lipoprotein syndrome | Familial hypoalphalipoproteinaemia | Familial hypoalphalipoproteinemia | Familial hypoalphalipoproteinemia (disorder) | HDL CHOLESTEROL, LOW SERUM | HDL Lipoprotein Deficiency Disease | HDLC | HYPOALPHALIPOPROTEINEMIA, FAMILIAL | HYPOALPHALIPOPROTEINEMIA, PRIMARY | High Density Lipoprotein Deficiency Disease, Familial | High-Density Lipoprotein Deficiency Disease, Familial | Hypoalphalipoproteinemia, Familial | Hypoalphalipoproteinemia, Primary | Hypoalphalipoproteinemias, Familial | Hypoalphalipoproteinemias, Primary | LIPOPROTEIN DEFICIENCY, ALPHA, HIGH-DENSITY | Lipoprotein Deficiency Disease, HDL, Familial | Primary Hypoalphalipoproteinemias | alpha Lipoprotein Deficiency Disease, Familial | alpha-Lipoprotein Deficiency Disease, Familial MSH2017_2016_08_12:D052456|OMIM2016_04_17:107680|OMIM2016_04_17:604091|SNOMEDCT_US_2016_09_01:15346004 C0854110 Insulin resistant diabetes DIABETES MELLITUS NOS INSULIN RESISTANT | DIABETES MELLITUS, INSULIN-RESISTANT | Diabetes mellitus, insulin-resistant | Insulin resistant diabetes | Insulin resistant diabetes mellitus | Insulin-resistant diabetes | Insulin-resistant diabetes mellitus | diabetes insulin resistant | diabetes resistant insulin | insulin resistant diabetes HPO2016_07_04:A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels. [HPO:probinson, pmid:7706500] HPO2016_07_04:HP:0000831|OMIM2016_04_17:147670|OMIM2016_04_17:MTHU002022|OMIM2016_04_17:MTHU009476|OMIM2016_04_17:MTHU009666|OMIM2016_04_17:MTHU010099|OMIM2016_04_17:MTHU034767 C1394691 Bowel diverticula Bowel diverticula | bowel; diverticulum | diverticulum; bowel HPO2016_07_04:HP:0005222|OMIM2016_04_17:MTHU018442 C3714262 Adnfle - autosomal dominant nocturnal frontal lobe epilepsy, non-refractory ADNFLE - Autosomal dominant nocturnal frontal lobe epilepsy, non-refractory | Autosomal dominant nocturnal frontal lobe epilepsy, non-intractable | Autosomal dominant nocturnal frontal lobe epilepsy, non-refractory | Autosomal dominant nocturnal frontal lobe epilepsy, non-refractory (disorder) SNOMEDCT_US_2016_09_01:442161000124105 C1969062 Cataract, congenital nuclear, autosomal recessive 3 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 | CATCN3 | Cataract, Congenital Nuclear, Autosomal Recessive 3 MSH2017_2016_08_12:C566923|OMIM2016_04_17:611544 C0855628 Stage i nodular sclerosis hodgkin's disease above the diaphragm Hodgkin's disease nodular sclerosis stage I supradiaphragmatic | Stage I Nodular Sclerosis Hodgkin's Disease above the Diaphragm | Stage I Nodular Sclerosis Hodgkin's Lymphoma above the Diaphragm | Stage I Supradiaphragmatic Nodular Sclerosis Classical Hodgkin Lymphoma | Stage I Supradiaphragmatic Nodular Sclerosis Hodgkin Lymphoma | Stage I Supradiaphragmatic Nodular Sclerosis Hodgkin's Disease | Stage I Supradiaphragmatic Nodular Sclerosis Hodgkin's Lymphoma C1839458 Dysfunctional alternative complement pathway Dysfunctional alternative complement pathway HPO2016_07_04:HP:0005423|OMIM2016_04_17:MTHU007011 C0155109 Idiopathic corneal edema Idiopathic corneal edema | Idiopathic corneal edema (disorder) | Idiopathic corneal edema [dup] (disorder) | Idiopathic corneal oedema | idiopathic corneal edema | idiopathic corneal edema (diagnosis) ICD10CM_2017:H18.22|ICD9CM_2014:371.21|SNOMEDCT_US_2016_09_01:1794009|SNOMEDCT_US_2016_09_01:193813009 C1532253 Sedentary lifestyle Lifestyle, Sedentary | Lifestyles, Sedentary | Sedentary Lifestyle | Sedentary Lifestyles | Sedentary life style | Sedentary lifestyle | Sedentary lifestyle (finding) | sedentary | sedentary life style | sedentary lifestyle | sedentary lifestyle (history) MSH2017_2016_08_12:Usual level of physical activity that is less than 30 minutes of moderate-intensity activity on most days of the week. | MSHNOR2016:Livsstil med mindre enn 30 minutt fysisk aktivitet per dag. | NANDA-I_2015-2017:Reports a habit of life that is characterized by a low physical activity level. | NCI2016_02D:A type of lifestyle that lacks physical exercise, characterized by sitting, reading, watching television or using a computer for much of the day without vigorous physical exertion. MSH2017_2016_08_12:D057185|SNOMEDCT_US_2016_09_01:415510005 C0010709 Cyst CYST | CYST NOS | CYSTS | Cyst | Cyst (disorder) | Cyst (morphologic abnormality) | Cyst (morphologic abnormality) [Ambiguous] | Cyst - morphology | Cyst -RETIRED- | Cyst NOS | Cyst, NOS | Cysts | Cysts [Disease/Finding] | cyst | cysts MSH2017_2016_08_12:Any fluid-filled closed cavity or sac that is lined by an EPITHELIUM. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues. | NCI2016_02D:A sac-like closed membranous structure that may be empty or contain fluid or amorphous material. | NCI2016_CDISC_1602D:A sac-like closed pocket of tissue that may be empty or may be filled with fluid, gas, semisolid, or amorphous material. It typically has an outer epithelial-lined capsule. | NCI2016_NCI-GLOSS_1602D:A sac or capsule in the body. It may be filled with fluid or other material. MSH2017_2016_08_12:D003560|SNOMEDCT_US_2016_09_01:12494005|SNOMEDCT_US_2016_09_01:133846001|SNOMEDCT_US_2016_09_01:264515009|SNOMEDCT_US_2016_09_01:367643001|SNOMEDCT_US_2016_09_01:441457006 C1511934 Differentiating neuroblastoma Differentiating Neuroblastoma NCI2016_02D:A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells. C1334809 Mucinous adenocarcinoma of stomach Mucinous Adenocarcinoma of Stomach | Mucinous Adenocarcinoma of the Stomach | Mucinous Gastric Adenocarcinoma | Mucinous Stomach Adenocarcinoma | Mucinous adenocarcinoma gastric | mucinous adenocarcinoma of stomach | mucinous adenocarcinoma of stomach (diagnosis) NCI2016_02D:A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools. C0027821 Syndrome effort Asthenia, Neurocirculatory | Asthenias, Neurocirculatory | CARDIAC NEUROSIS | Cardiac Neuroses | Cardiac Neurosis | Cardiac neurosis | Cardiac neurosis (disorder) | Cardioneurosis | Cardiovascular disorder, psychogenic | Cardiovascular malfunction arising from mental factors | Cardiovascular neurosis | Cerebrocardiac neurosis | Cerebrocardiac neurosis (disorder) | Cerebrocardiac syndrome | DA COSTA SYNDROME | Da Costa's syndrome | EFFORT SYNDROME | Effort Syndrome | Effort syndrome | FUNCTIONAL CARDIOVASCULAR DISEASE | HEART, NERVOUS | Irritable heart syndrome | Krishaber's disease | NEUROCIRCULATORY ASTHENIA | NEUROSIS CARDIOVASCULAR | Neurocirculatory Asthenia | Neurocirculatory Asthenia [Disease/Finding] | Neurocirculatory Asthenias | Neurocirculatory asthenia | Neurocirculatory asthenia (disorder) | Neurocirculatory asthenia (finding) | Neuroses, Cardiac | Neurosis cardiovascular | Neurosis, Cardiac | Neurosis, cerebrocardiac | Neurosis;cardiac | SYNDROME EFFORT | Syndrome effort | Syndrome, Effort | [X]Cardiac neurosis | [X]Da Costa's syndrome | [X]Neurocirculatory asthenia | cardiac neuroses | cardiac neurosis | cardiac neurosis (diagnosis) | cardioneurosis | cardiovascular neurosis | costas da syndrome | da costa syndrome | da costa's syndrome | effort syndrome | nervous heart | neurocirculatory asthenia MSH2017_2016_08_12:A clinical syndrome characterized by palpitation, SHORTNESS OF BREATH, labored breathing, subjective complaints of effort and discomfort, all following slight PHYSICAL EXERTION. Other symptoms may be DIZZINESS, tremulousness, SWEATING, and INSOMNIA. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder. ICD9CM_2014:306.2|MSH2017_2016_08_12:D009449|OMIM2016_04_17:604715|SNOMEDCT_US_2016_09_01:154922007|SNOMEDCT_US_2016_09_01:191960008|SNOMEDCT_US_2016_09_01:191961007|SNOMEDCT_US_2016_09_01:191962000|SNOMEDCT_US_2016_09_01:191963005|SNOMEDCT_US_2016_09_01:192434000|SNOMEDCT_US_2016_09_01:46219009|SNOMEDCT_US_2016_09_01:72994002 C0154742 Other median nerve lesions Other lesion of median nerve | Other lesions of median nerve | Other lesions of median nerve, unspecified upper limb | Other lesions/median nerve | Other median nerve lesions | Other median nerve lesions (disorder) | [X]Other lesions of median nerve | [X]Other lesions of median nerve (disorder) | [X]Other lesions/median nerve ICD10CM_2017:G56.1|ICD10CM_2017:G56.10|ICD9CM_2014:354.1|SNOMEDCT_US_2016_09_01:193127001|SNOMEDCT_US_2016_09_01:194512000 C1844375 Gynecomastia, familial GYNECOMASTIA, FAMILIAL | Gynecomastia, Familial MSH2017_2016_08_12:C564416|OMIM2016_04_17:306500 C1836038 Poor head control Poor head control HPO2016_07_04:Difficulty to maintain correct position of the head while standing or sitting. [HPO:probinson] HPO2016_07_04:HP:0002421|OMIM2016_04_17:MTHU000695 C0000786 Spontaneous abortion ABORTION SPONTANEOUS | ABORTION, SPONTANEOUS | Abortion (Spontaneous) | Abortion - spontaneous | Abortion spontaneous | Abortion spontaneous NOS | Abortion, Spontaneous | Abortion, Spontaneous [Disease/Finding] | Abortion, spontaneous | Abortion;spontaneous | Abortions spontaneous | Abortions, Spontaneous | Abortions.spontaneous | MISCARRIAGE | Miscarriage | Miscarriage (disorder) | Miscarriage NOS | Miscarriage of pregnancy | Miscarriage, NOS | Miscarriages | SPONTANEOUS ABORTION | Spontaneous Abortion | Spontaneous Abortions | Spontaneous abortion | Spontaneous abortion (disorder) | Spontaneous abortion NOS | Spontaneous abortion NOS (disorder) | Spontaneous abortion unsp.NOS | Spontaneous abortion unspecif. | Spontaneous abortion unspecified | Spontaneous abortion unspecified (disorder) | Spontaneous abortion, NOS | Spontaneous abortion, fetus | Unspecified spontaneous abortion NOS | Unspecified spontaneous abortion NOS (disorder) | Vaginal expulsion of fetus | Vaginal expulsion of foetus | Vaginal expulsion of product of conception | abortion spontaneous | abortion; spontaneous | abortion; spontaneous, fetus | abortions spontaneous | miscarriage | miscarriage of pregnancy | miscarriage pregnancy | miscarriages | miscarriages pregnancy | pregnancy miscarriage | spontaneous abortion | spontaneous abortion (diagnosis) | spontaneous abortions | spontaneous; abortion | spontaneous; abortion, fetus CSP2006:the natural premature expulsion from the uterus of the products of conception, the embryo, or non-viable fetus. | HPO2016_07_04:A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy. [HPO:probinson] | MEDLINEPLUS_20151021:A miscarriage is the loss of pregnancy from natural causes before the 20th week of pregnancy. Most miscarriages occur very early in the pregnancy, often before a woman even knows she is pregnant. There are many different causes for a miscarriage. In most cases, there is nothing you can do to prevent a miscarriage.
Factors that may contribute to miscarriage include
Signs of a miscarriage can include vaginal spotting or bleeding, abdominal pain or cramping, and fluid or tissue passing from the vagina. Although vaginal bleeding is a common symptom of miscarriage, many women have spotting early in their pregnancy but do not miscarry. But if you are pregnant and have bleeding or spotting, contact your health care provider immediately.
Women who miscarry early in their pregnancy usually do not need any treatment. In some cases, you may need a procedure called a dilatation and curettage (D&C) to remove tissue remaining in the uterus.
Co | MSH2017_2016_08_12:Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference. | NCI2016_02D:Fetal loss at less than 20 weeks of gestation.(NICHD) | NCI2016_FDA_1602D:Loss of the products of conception from the uterus before the fetus is viable; spontaneous abortion. | NCI2016_NICHD_1602D:Fetal loss at less than 20 weeks of gestation. HPO2016_07_04:HP:0005268|ICD10CM_2017:O03|ICD10CM_2017:O03.9|ICD9CM_2014:634|MSH2017_2016_08_12:D000022|SNOMEDCT_US_2016_09_01:156071003|SNOMEDCT_US_2016_09_01:156074006|SNOMEDCT_US_2016_09_01:17369002|SNOMEDCT_US_2016_09_01:198631006|SNOMEDCT_US_2016_09_01:198643007|SNOMEDCT_US_2016_09_01:198689000|SNOMEDCT_US_2016_09_01:267294003 C0012706 Depressive disorder nec in snomedct Depressive disorder NEC | Depressive disorder NEC (disorder) | Depressive disorder NEC in SNOMEDCT SNOMEDCT_US_2016_09_01:192078003 C1328407 Hip dysplasia ACETABULAR DYSPLASIA | Acetabular Dysplasia | Acetabular dysplasia | Dysplastic acetabulae | Hip Dysplasia | Hip dysplasia | dysplasia; hip | hip; dysplasia HPO2016_07_04:The presence of developmental dysplasia of the acetabular part of hip bone. [HPO:probinson] HPO2016_07_04:HP:0008807|MSH2017_2016_08_12:D006617|OMIM2016_04_17:142700|OMIM2016_04_17:MTHU011155|OMIM2016_04_17:MTHU011174|OMIM2016_04_17:MTHU020237 C0006091 Brachial plexus lesion BRACHIAL PLEXUS LESION | Brachial plexus lesion | Brachial plexus lesion, NOS | Brachial plexus lesions | Brachial plexus lesions NOS | Brachial plexus lesions NOS (disorder) | Lesion;brachial plexus | brachial plexus lesion | brachial plexus lesions | brachial plexus; lesion | lesion of brachial plexus | lesion; brachial plexus | plexus brachialis; lesion ICD9CM_2014:353.0|SNOMEDCT_US_2016_09_01:193109004|SNOMEDCT_US_2016_09_01:3548001 C0269108 Endometriosis, parametrium Endometriosis of parametrium | Endometriosis of parametrium (disorder) | Endometriosis, parametrium | endometriosis of parametrium | endometriosis of parametrium (diagnosis) SNOMEDCT_US_2016_09_01:84305006 C0012979 Canine disease Canine Disease | Canine Diseases | Disease, Canine | Disease, Dog | Diseases, Canine | Diseases, Dog | Dog Disease | Dog Diseases | Dogs--Diseases | canine disease | canine diseases | canines diseases | disease canine | disease dog | disease dogs | diseases dog | diseases dogs | dog disease | dog diseases MSH2017_2016_08_12:Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used. MSH2017_2016_08_12:D004283 C0393756 Hangover from alcohol Alcoholic hangover | Hangover | Hangover (alcohol) | Hangover (finding) | Hangover alcoholic | Hangover effect | Hangover from alcohol | Hangover, alcohol | alcohol hangover | hangover | hangover (alcohol) | hangover effect | hangovers SNOMEDCT_US_2016_09_01:191880005|SNOMEDCT_US_2016_09_01:32553006 C3809199 Precocious puberty, central, 2 CPPB2 | PRECOCIOUS PUBERTY, CENTRAL, 2 OMIM2016_04_17:603856|OMIM2016_04_17:615346 C0162790 Harassment sexual Harassment (Sexual) | Harassment, Sexual | Harassment;sexual | Harassments, Sexual | Harrassment, Sexual | Harrassments, Sexual | Sexual Harassment | Sexual Harassments | Sexual Harrassment | Sexual Harrassments | Sexual harassment | Sexual harassment (finding) | Sexual harassment, NOS | harassment sexual | sexual harassment | sexual harrassment MSH2017_2016_08_12:A form of discrimination in the workplace which violates the Civil Rights Act of 1964. Offensive sexual conduct may include unwelcome advances, comments, touching, questions about marital status and sex practices, etc. Both men and women may be aggressors or victims. (Slee and Slee, Health Care Terms, 2d ed, p.404). While civil rights legislation deals with sexual harassment in the workplace, the behavior is not restricted to this; it may take place outside the work environment: in schools and colleges, athletics, and other social milieus and activities. | PSY2004:Physical or psychological sexual threats or attempts to willfully subject a person to involuntary sexual activity usually for the purpose of social control. MSH2017_2016_08_12:D017406|SNOMEDCT_US_2016_09_01:56441002 C0006625 Cachexia CACHECTIC | CACHEXIA | Cachectic | Cachexia | Cachexia (disorder) | Cachexia (disorder) [Ambiguous] | Cachexia (finding) | Cachexia NOS | Cachexia [Disease/Finding] | Cachexia, NOS | General body deterioration | Wasting | Wasting syndrome | [D]Cachexia | [D]Cachexia (context-dependent category) | [D]Cachexia (situation) | [D]Cachexia NOS | [D]Cachexia NOS (context-dependent category) | [D]Cachexia NOS (situation) | cachectic | cachectic (physical finding) | cachexia CSP2006:state of general ill health characterized by malnutrition, weakness, and emaciation; occurs during the course of a chronic disease. | HPO2016_07_04:Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. [HPO:probinson] | MSH2017_2016_08_12:General ill health, malnutrition, and weight loss, usually associated with chronic disease. | NCI2016_02D:A loss of body mass, fatigue, and weakness; it is often associated with chronic disease. | NCI2016_NCI-GLOSS_1602D:The loss of body weight and muscle mass frequently seen in patients with cancer, AIDS, or other diseases. HPO2016_07_04:HP:0004326|ICD10CM_2017:R64|ICD9CM_2014:799.4|MSH2017_2016_08_12:D002100|OMIM2016_04_17:MTHU037107|SNOMEDCT_US_2016_09_01:158737005|SNOMEDCT_US_2016_09_01:207558009|SNOMEDCT_US_2016_09_01:207560006|SNOMEDCT_US_2016_09_01:238108007|SNOMEDCT_US_2016_09_01:285384003|SNOMEDCT_US_2016_09_01:28928000 C0023241 Legionnaires' disease (Legionella) or (Legionnaire's disease) | (Legionella) or (Legionnaire's disease) (disorder) | Disease, Legionnaire | Disease, Legionnaires' | Disease;Legionnaires | Infection by Legionella pneumophilia | Infection by Legionella pneumophilia (disorder) | Infection caused by Legionella pneumophilia | Infection caused by Legionella pneumophilia (disorder) | Infection, Legionella pneumophila | Infections, Legionella pneumophila | LEGIONELLA PNEUMONIA | LEGIONNAIRE DISEASE | Legionella | Legionella pneumonia | Legionella pneumonia (disorder) | Legionella pneumonia, NOS | Legionella pneumophila Infection | Legionella pneumophila Infections | Legionella pneumophila infection | Legionella pneumophila; infection | Legionella pneumophila; infection, pneumonia (manifestation) | Legionellal pneumonia | Legionnaire Disease | Legionnaire disease | Legionnaire's Disease | Legionnaire's disease | Legionnaire's disease (diagnosis) | Legionnaire's disease (disorder) | Legionnaire's disease [Ambiguous] | Legionnaires Disease | Legionnaires disease | Legionnaires' Disease | Legionnaires' Disease [Disease/Finding] | Legionnaires' disease | Pneumonia due to Legionnaires' disease | Pneumonia legionella | disease (or disorder); legionnaire's | disease legionnaire's | disease legionnaires's | diseases legionnaire's | diseases legionnaires | infection; Legionella pneumophila | infection; Legionella pneumophila, pneumonia (manifestation) | legionella pneumonia | legionnaire disease | legionnaire's disease | legionnaire's; disease | legionnaires disease | legionnaires' disease | pneumonia legionella | pneumophila Infection, Legionella | pneumophila Infections, Legionella MEDLINEPLUS_20151021:
Legionnaires' disease is a type of pneumonia caused by bacteria. You usually get it by breathing in mist from water that contains the bacteria. The mist may come from hot tubs, showers, or air-conditioning units for large buildings. The bacteria don't spread from person to person.
Symptoms of Legionnaires' disease include high fever, chills, a cough, and sometimes muscle aches and headaches. Other types of pneumonia have similar symptoms. You will probably need a chest x-ray to diagnose the pneumonia. Lab tests can detect the specific bacteria that cause Legionnaires' disease.
Most people exposed to the bacteria do not become sick. You are more likely to get sick if you
Legionnaires' disease is serious and can be life-threatening. However, most people recover with antibiotic treatment.
Centers for Disease Control and Prevention
| MSH2017_2016_08_12:An acute, sometimes fatal, pneumonia-like bacterial infection characterized by high fever, malaise, muscle aches, respiratory disorders and headache. It is named for an outbreak at the 1976 Philadelphia convention of the American Legion. ICD10CM_2017:A48.1|ICD9CM_2014:482.84|MSH2017_2016_08_12:D007877|SNOMEDCT_US_2016_09_01:154315008|SNOMEDCT_US_2016_09_01:195889001|SNOMEDCT_US_2016_09_01:266186009|SNOMEDCT_US_2016_09_01:269574000|SNOMEDCT_US_2016_09_01:312403005|SNOMEDCT_US_2016_09_01:74881002 C0027538 Lipoidica necrobiosis nld Lipoidica necrobiosis | NLD - Necrobiosis lipoidica | Necrobiosis Lipoidica | Necrobiosis Lipoidica [Disease/Finding] | Necrobiosis lipoidica | Necrobiosis lipoidica (disorder) | Necrobiosis lipoidica, NOS | lipoidica necrobiosis nld | lipoidica; necrobiosis | necrobiosis lipoidica | necrobiosis lipoidica (diagnosis) | necrobiosis; lipoidica MSH2017_2016_08_12:A degenerative disease of the dermal connective tissue characterized by the development of erythematous papules or nodules in the pretibial area. The papules form plaques covered with telangiectatic vessels. More than half of the affected patients have diabetes. | NCI2016_02D:An uncommon inflammatory skin condition, often associated with diabetes mellitus, that is characterized by the formation of multiple shiny atrophic lesions thought to be due to collagen degeneration with a granulomatous response, thickening of blood vessel walls, and fat deposition. The lesions are usually found on the leg. MSH2017_2016_08_12:D009335|SNOMEDCT_US_2016_09_01:156394009|SNOMEDCT_US_2016_09_01:201317009|SNOMEDCT_US_2016_09_01:201319007|SNOMEDCT_US_2016_09_01:9418005 C1333860 Grade 2 colorectal adenocarcinoma Grade 2 Colorectal Adenocarcinoma | Grade II Colorectal Adenocarcinoma | Low Grade Colorectal Adenocarcinoma | Moderately Differentiated Colorectal Adenocarcinoma NCI2016_02D:A colorectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with 50-95% glandular formation. C1853949 Myasthenia, familial infantile, 1 Congenital Myasthenic Syndrome Type Ia1 | MYASTHENIA, FAMILIAL INFANTILE, 1 | Myasthenia, Familial Infantile, 1 MSH2017_2016_08_12:C565289 C0027436 Nasociliary neuralgia Nasociliary neuralgia | Nasociliary neuralgia (disorder) SNOMEDCT_US_2016_09_01:31490007 C0751422 Hereditary autoinflammatory diseases Autoinflammation Disease, Hereditary | Autoinflammation Diseases, Hereditary | Autoinflammatory Disease, Hereditary | Autoinflammatory Diseases, Hereditary | Disease, Hereditary Autoinflammation | Disease, Hereditary Autoinflammatory | Disease, Reimann Periodic | Disease, Siegal-Cattan-Mamou | Diseases, Hereditary Autoinflammation | Diseases, Hereditary Autoinflammatory | Diseases, Reimann Periodic | Fever, Hereditary Recurrent | Fevers, Hereditary Recurrent | Hereditary Autoinflammation Disease | Hereditary Autoinflammation Diseases | Hereditary Autoinflammatory Disease | Hereditary Autoinflammatory Diseases | Hereditary Autoinflammatory Diseases [Disease/Finding] | Hereditary Periodic Fever Syndromes | Hereditary Recurrent Fever | Hereditary Recurrent Fevers | Hereditary periodic fever | Hereditary periodic fever (disorder) | Periodic Disease, Reimann | Periodic Diseases, Reimann | Recurrent Fever, Hereditary | Recurrent Fevers, Hereditary | Reimann Periodic Disease | Reimann Periodic Diseases | Siegal Cattan Mamou Disease | Siegal-Cattan-Mamou Disease MSH2017_2016_08_12:Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES. MSH2017_2016_08_12:D056660|SNOMEDCT_US_2016_09_01:402790006 C0006666 Calciphylaxes Calciphylaxes | Calciphylaxis | Calciphylaxis (disorder) | Calciphylaxis [Disease/Finding] | Calciphylaxis, Idiopathic | Idiopathic Calciphylaxis | calciphylaxes | calciphylaxis | calciphylaxis (diagnosis) MSH2017_2016_08_12:Condition of induced systemic hypersensitivity in which tissues respond to appropriate challenging agents with a sudden local calcification. | NCI2016_02D:A rare syndrome characterized by vascular calcification and skin necrosis. It seen in patients with end stage renal disease. | NCI2016_NICHD_1602D:A syndrome of vascular calcification and thrombosis with cutaneous necrosis that is usually associated with severe chronic kidney disease. MSH2017_2016_08_12:D002115|SNOMEDCT_US_2016_09_01:237900002 C4280507 Episodic rapid heart beat Episodic rapid heart beat HPO2016_07_04:HP:0004763 C0742078 Mass lesion of brain BRAIN MASS | Brain Mass | Brain mass | CEREBRAL MASS | Mass lesion of brain | Mass lesion of brain (finding) | Space-occupying lesion of brain | brain mass | cerebral mass | cerebral masses NCI2016_02D:A benign or malignant solid pathologic process involving the brain and/or the meninges. SNOMEDCT_US_2016_09_01:422840005 C3280428 Alpha-methylacyl-coa racemase deficiency ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY | AMACR | AMACR DEFICIENCY | AMACR deficiency | AMACRD | Alpha-Methylacyl-CoA Racemase Deficiency | Alpha-methylacyl-CoA racemase deficiency disorder | Alpha-methylacyl-CoA racemase deficiency disorder (disorder) NCI2016_02D:A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. MSH2017_2016_08_12:C565768|OMIM2016_04_17:604489|OMIM2016_04_17:614307|SNOMEDCT_US_2016_09_01:700463002 C0265287 Acromicric dysplasia ACMICD | ACROMICRIC DYSPLASIA | Acromicric Dysplasia | Acromicric dysplasia | Acromicric dysplasia (disorder) | Acromicric skeletal dysplasia | acromicric dysplasia MSH2017_2016_08_12:C535662|OMIM2016_04_17:102370|OMIM2016_04_17:134797|SNOMEDCT_US_2016_09_01:254090007 C0234022 Anorgasmia ANORGASMIA | Anorgasmia | Frigidity proper | Inability to orgasm | Orgasm incapacity | Orgasm incapacity (finding) | anorgasmia | anorgasmia (diagnosis) | inability orgasm | inability to orgasm NCI2016_02D:Inability to achieve orgasm. | NCI2016_CTCAE_1602D:A disorder characterized by an inability to achieve orgasm. SNOMEDCT_US_2016_09_01:62607004 C0751202 Cystathionine beta-synthase deficiency disease CBS DEFICIENCY | CBS Deficiencies | CBS Deficiency | CBS deficiency | CYSTATHIONINE BETA-SYNTHASE DEFICIENCY | Cystathionine Beta Synthase Deficiency | Cystathionine beta Synthase Deficiency Disease | Cystathionine beta-Synthase Deficiency Disease | Cystathionine beta-synthase deficiency | Cystathionine beta-synthase deficiency (disorder) | Deficiencies, CBS | Deficiency Disease, Cystathionine beta Synthase | Deficiency Disease, Cystathionine beta-Synthase | Deficiency of beta-thionase | Deficiency of cystathionine beta-synthase | Deficiency of cystathionine beta-synthase (disorder) | Deficiency of methylcysteine synthase | Deficiency of serine sulfhydrase | Deficiency of serine sulphydrase | Deficiency, CBS | HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY | HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE MSH2017_2016_08_12:D006712|OMIM2016_04_17:236200|OMIM2016_04_17:MTHU012430|SNOMEDCT_US_2016_09_01:124623001|SNOMEDCT_US_2016_09_01:24308003 C4014492 Epileptic encephalopathy, early infantile, 23 EIEE23 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 OMIM2016_04_17:615730|OMIM2016_04_17:615859 C4280587 Toe curvature Toe curvature HPO2016_07_04:HP:0001863 C0748310 Renal failure non oliguric RENAL FAILURE NON OLIGURIC C1283620 Sucrase-isomaltase deficiency, congenital CSID | Congenital Sucrase-Isomaltase Deficiency | Congenital Sucrose Intolerance | Congenital Sucrose-Isomaltose Malabsorption | Congenital sucrose intolerance | Congenital sucrose malabsorption | Congenital sucrose-isomaltase intolerance | Congenital sucrose-isomaltase malabsorption | DISACCHARIDE INTOLERANCE I | Deficiency of isomaltase | Deficiency of isomaltase (disorder) | Deficiency of oligo-1,6-glucosidase | Deficiency of oligo-1,6-glucosidase (disorder) | Deficiency of oligo-1,6-glucosidase (disorder) [Ambiguous] | Deficiency of sucrase-isomaltase | Deficiency of sucrase-isomaltase (disorder) | Disaccharide Intolerance I | Disaccharide intolerance I | Disaccharide intolerance syndrome, type I | Disaccharide intolerance, 1 | Intestinal sucrase-a-dextrinase deficiency | SI DEFICIENCY | SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL | SUCROSE INTOLERANCE, CONGENITAL | SUCROSE-ISOMALTOSE MALABSORPTION, CONGENITAL | Si Deficiency | Sucrase-Isomaltase Deficiency | Sucrase-alpha-dextrinase deficiency | Sucrase-isomaltase deficiency | Sucrase-isomaltase deficiency (disorder) | Sucrase-isomaltase deficiency, congenital | Sucrose Intolerance, Congenital | Sucrose intolerance congenital | Sucrose-Isomaltose Malabsorption, Congenital | Sucrose-isomaltase malabsorption, congenital | congenital sucrose isomaltose malabsorption | deficiency of isomaltase | isomaltase deficiency | sucrase alpha dextrinase deficiency | sucrase isomaltase deficiency | sucrase-isomaltase deficiency CSP2006:characterized by the deficiency or absence of the enzymes sucrase and isomaltase existing at, and usually before birth; this enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugar (ie, sucrose) and certain products of starch digestion (dextrins); only evident soon after birth when sucrose or starches, such as found in modified milk formulas with sucrose or polycose, are ingested by an affected infant, breast-fed infants or those on lactose-only formula manifest no symptoms until such time as sucrose (found in fruit juices, solid foods, and/or some medications) is introduced into the diet. ICD10CM_2017:E74.31|MSH2017_2016_08_12:C538139|OMIM2016_04_17:222900|OMIM2016_04_17:609845|SNOMEDCT_US_2016_09_01:124457000|SNOMEDCT_US_2016_09_01:360843001|SNOMEDCT_US_2016_09_01:360854006|SNOMEDCT_US_2016_09_01:78373000 C0677483 Carcinoma of the testis CARCINOMA TESTES | Carcinoma testes | Carcinoma testis | Carcinoma;testis | TESTICULAR CARCINOMA | Testicular Ca | carcinoma of testis | carcinoma of testis (diagnosis) | carcinoma of the testis | carcinoma testes | carcinoma testicular | carcinoma testis | testicular carcinoma SNOMEDCT_US_2016_09_01:154532006|SNOMEDCT_US_2016_09_01:269603004 C0334660 Angioendotheliomatosis Angioendotheliomatosis | Angioendotheliomatosis (diagnosis) | Angioendotheliomatosis (disorder) | Angioendotheliomatosis -RETIRED- | Angiotropic Large Cell Lymphoma | Angiotropic Lymphoma | Angiotropic lymphoma | Intravascular B-Cell Lymphoma | Intravascular B-cell lymphoma | Intravascular Large B-Cell Lymphoma | Intravascular large B-cell lymphoma | Intravascular large B-cell lymphoma (morphologic abnormality) | Intravascular lymphomatosis | Malignant Angioendotheliomatosis | Malignant angioendotheliomatosis | [M] Angioendotheliomatosis | [M]Angioendotheliomatosis | [M]Angioendotheliomatosis (disorder) | [M]Angioendotheliomatosis (morphologic abnormality) | angioendotheliomatosis | intravascular lymphomatosis | malignant neoplasm lymphoma b-cell high grade diffuse angioendotheliomatosis NCI2016_02D:A rare extranodal B-cell non-Hodgkin lymphoma, characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries. This is an extremely aggressive lymphoma which responds poorly to chemotherapy. (WHO, 2001) -- 2003 ICD10CM_2017:C83.8|SNOMEDCT_US_2016_09_01:17158006|SNOMEDCT_US_2016_09_01:190013007|SNOMEDCT_US_2016_09_01:190076008|SNOMEDCT_US_2016_09_01:255102004|SNOMEDCT_US_2016_09_01:399648005|SNOMEDCT_US_2016_09_01:46732000 C0085810 Anguilluliases Anguilluliases | Anguilluliasis MSH2017_2016_08_12:D013322 C1631597 Ventricular tachycardia, catecholaminergic polymorphic, 1 (disorder) Bidirectional Tachycardia Induced By Catecholamines | CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA | CPVT1 | Catecholamine-induced polymorphic ventricular tachycardia | Catecholaminergic Polymorphic Ventricular Tachycardia | Catecholaminergic Polymorphic Ventricular Tachycardia by ECG Finding | Catecholaminergic Polymorphic Ventricular Tachycardia by EKG Finding | Catecholaminergic polymorphic ventricular tachycardia | Catecholaminergic polymorphic ventricular tachycardia (disorder) | Polymorphic catecholergic ventricular tachycardia | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY | VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC | VTSIP | Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 NCI2016_02D:An electrocardiographic finding of ventricular tachycardia that is associated with syncope and/or cardiac arrest triggered by emotion or exercise in patients whose baseline ECG is normal. (ACC) | NCI2016_CDISC_1602D:Ventricular Tachycardia associated with syncope and/or cardiac arrest triggered by emotion or exercise in patients whose baseline ECG is normal. MSH2017_2016_08_12:C536334|OMIM2016_04_17:180902|OMIM2016_04_17:604772|SNOMEDCT_US_2016_09_01:419671004 C2748568 Immune dysfunction with t-cell inactivation due to calcium entry defect 1 IMD9 | IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1 | IMMUNODEFICIENCY 9 | Immune dysfunction with T-cell inactivation due to calcium entry defect 1 MSH2017_2016_08_12:C557826|OMIM2016_04_17:610277|OMIM2016_04_17:612782 C0743320 Dysphagia solid DYSPHAGIA SOLID C2931524 Seemanova-lesny syndrome Microcephalus microcornea syndrome of Seemanova type | Microcephalus microcornea syndrome of Seemanova type (disorder) | Microcephaly microcornea syndrome Seemanova type | Seemanova Lesny syndrome | Seemanova-Lesny syndrome | X-linked microcephaly-microphthalmia-microcornea-cataract-hypogenitalism-mental retardation-spasticity syndrome JABL99:Microcephaly, microphthalmia, cataract, mental deficiency, spasticity hypogenitalism, and growth retardation are the principal clinical features. | SNOMEDCT_US_2016_09_01:Extremely rare syndrome with features of microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. This syndrome is transmitted as an X-linked trait. MSH2017_2016_08_12:C537536|MSH2017_2016_08_12:C537539|SNOMEDCT_US_2016_09_01:715464002 C0029459 Osteoporosis, senile Age related osteoporosis | Involutional osteoporosis | OSTEOPOROSIS, INVOLUTIONAL | Osteoporoses, Senile | Osteoporosis senile | Osteoporosis, Involutional | Osteoporosis, Senile | Senile Osteoporoses | Senile Osteoporosis | Senile osteoporosis | Senile osteoporosis (disorder) | Type II osteoporosis | osteoporosis senile | osteoporosis; senile | senile osteoporosis | senile osteoporosis (diagnosis) | senile; osteoporosis | type ii osteoporosis ICD9CM_2014:733.01|MSH2017_2016_08_12:D010024|OMIM2016_04_17:166710|SNOMEDCT_US_2016_09_01:18040001 C0861832 Recurrent duodenal carcinoma Duodenal carcinoma recurrent | Recurrent Duodenal Carcinoma NCI2016_02D:The reemergence of duodenal carcinoma after a period of remission. C3489396 Hypogonadism, isolated hypogonadotropic HYPOGONADISM, ISOLATED HYPOGONADOTROPIC | Hypogonadism, Isolated Hypogonadotropic | Isolated Hypogonadotropic Hypogonadism | Isolated hypogonadotropic hypogonadism NCI2016_02D:Hypogonadotropic hypogonadism not associated with a deficiency of other pituitary hormones. HPO2016_07_04:HP:0000044|MSH2017_2016_08_12:D007006|OMIM2016_04_17:146110|OMIM2016_04_17:MTHU048548 C0748397 Reynolds syndrome PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | Primary biliary cirrhosis co-occurrent with systemic scleroderma | Primary biliary cirrhosis co-occurrent with systemic scleroderma (disorder) | REYNOLD SYNDROME | REYNOLDS SYNDROME | Reynold's syndrome | Reynolds syndrome | reynold syndrome | reynolds syndrome SNOMEDCT_US_2016_09_01:An autoimmune disorder characterised by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive. | SNOMEDCT_US_2016_09_01:An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive. OMIM2016_04_17:613471|SNOMEDCT_US_2016_09_01:715401008 C0340552 High altitude pulmonary hypertension HAPH | HIGH ALTITUDE PULMONARY HYPERTENSION | High altitude pulmonary hypertension | High altitude pulmonary hypertension (disorder) | PULMONARY EDEMA OF MOUNTAINEERS, SUSCEPTIBILITY TO | Pulmonary hypertension due to chronic exposure to high altitude MSH2017_2016_08_12:C535833|OMIM2016_04_17:178400|SNOMEDCT_US_2016_09_01:233954004 C0457179 Desmoplastic infantile astrocytoma DIA | Desmoplastic Astrocytoma of Infancy | Desmoplastic Infantile Astrocytoma | Desmoplastic infantile astrocytoma | Desmoplastic infantile astrocytoma (morphologic abnormality) NCI2016_02D:A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) SNOMEDCT_US_2016_09_01:128787000 C0271689 Insulin receptor, defect in INSULIN RECEPTOR, DEFECT IN | Insulin Receptor, Defect in | Insulin receptor defect | Insulin receptor defect (disorder) | Insulin receptor defect, NOS MSH2017_2016_08_12:C562709|OMIM2016_04_17:246200|SNOMEDCT_US_2016_09_01:10680005 C0751615 Arachnoid intracranial cyst ARACHNOID CYSTS, INTRACRANIAL | Arachnoid Cyst, Intracranial | Arachnoid Cysts, Intracranial | Cyst, Intracranial Arachnoid | Cysts, Intracranial Arachnoid | Intracranial Arachnoid Cyst | Intracranial Arachnoid Cysts | arachnoid intracranial cyst | intracranial arachnoid cyst | intracranial arachnoid cysts MSH2017_2016_08_12:D016080|OMIM2016_04_17:207790 C1844680 Deafness-hypogonadism syndrome DEAFNESS-HYPOGONADISM SYNDROME | DHS | Deafness-Hypogonadism Syndrome MSH2017_2016_08_12:C564435|OMIM2016_04_17:304350 C1849435 Bicarbonate-wasting rta Bicarbonate-wasting RTA | RENAL TUBULAR ACIDOSIS III | RTA, BICARBONATE-WASTING TYPE | RTA, DISLOCATION TYPE | RTA, bicarbonate-wasting type | RTA, dislocation type | Renal Tubular Acidosis III | Renal tubular acidosis, distal, type 3 MSH2017_2016_08_12:C537759|OMIM2016_04_17:267200 C4020787 Subcoronal hypospadias Subcoronal hypospadias HPO2016_07_04:HP:0008743 C0740372 Gastrointestinal lymphoma Digestive System Lymphoma | GASTROINTESTINAL LYMPHOMA | Gastrointestinal Lymphoma | Gastrointestinal lymphoma | Lymphoma of gastrointestinal tract | Lymphoma of gastrointestinal tract (diagnosis) | Lymphoma of gastrointestinal tract (disorder) | Primary Digestive System Lymphoma | Primary Gastrointestinal Lymphoma | gastrointestinal lymphoma | lymphoma gastrointestinal NCI2016_02D:A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site. SNOMEDCT_US_2016_09_01:449072004 C1836933 Low-set nipples Low-set nipples HPO2016_07_04:Placement of the nipples at a lower than normal location. [HPO:probinson] HPO2016_07_04:HP:0002562|OMIM2016_04_17:MTHU001434 C4025175 Congenital alopecia totalis Congenital alopecia totalis HPO2016_07_04:Loss of all scalp hair with congenital onset. [HPO:probinson] HPO2016_07_04:HP:0005597 C3542426 Inferior myocardial infarction by ecg finding INFERIOR WALL MYOCARDIAL INFARCTION | Inferior MI | Inferior Myocardial Infarction by ECG Finding | Inferior Myocardial Infarction by EKG Finding | Inferior Wall Myocardial Infarction NCI2016_02D:An electrocardiographic finding of pathologic Q waves in leads III, aVF and often II, which is suggestive of myocardial infarction of the inferior wall of the left ventricle. (CDISC) | NCI2016_CDISC_1602D:An electrocardiographic finding of pathologic Q waves in leads III, aVF and often II, which is suggestive of myocardial infarction of the inferior wall of the left ventricle. C0206369 Splenosis Splenoses | Splenosis | Splenosis (disorder) | Splenosis [Disease/Finding] | splenosis MSH2017_2016_08_12:The spontaneous transplantation of splenic tissue to unusual sites after open splenic trauma, e.g., after automobile accidents, gunshot or stab wounds. The splenic pulp implants appear as red-blue nodules on the peritoneum, omentum, and mesentery, morphologically similar to multifocal pelvic endometriosis. (Segen, Dictionary of Modern Medicine, 1992) MSH2017_2016_08_12:D017890|SNOMEDCT_US_2016_09_01:38831007 C1858142 Ichthyosis, lamellar, 3 ICHTHYOSIS CONGENITA III | ICHTHYOSIS, LAMELLAR, 3 | Ichthyosis Congenita III | Ichthyosis congenita 3 | Ichthyosis lamellar 3 | Ichthyosis, Lamellar, 3 | Lamellar ichthyosis, type 3 | Type 3 lamellar ichthyosis MSH2017_2016_08_12:C537265|OMIM2016_04_17:604777 C0016867 Furunculosis FORUNCULOSIS | FURUNCULOSIS | Forunculosis | Furunculoses | Furunculosis | Furunculosis (morphologic abnormality) | Furunculosis NOS | Furunculosis [Disease/Finding] | forunculosis | furunculosis | furunculosis (diagnosis) MSH2017_2016_08_12:A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of STAPHYLOCOCCUS. In salmonid fish (SALMONIDS), the pathogen is AEROMONAS SALMONICIDA. | NCI2016_02D:A skin condition that is characterized by recurring furuncles, lesions primarily caused by staphylococcus aureus infection of the hair follicles and surrounding skin. Furunculosis occurs more frequently in persons with immune systems disorders than in the general population. ICD10CM_2017:L02.92|MSH2017_2016_08_12:D005667|SNOMEDCT_US_2016_09_01:112650006 C0035078 Kidney failure ESRD | FAILURE KIDNEY | Failure kidney | Failure, Kidney | Failure, Renal | Failure;renal;NOS | Failures, Kidney | Failures, Renal | KIDNEY FAILURE | Kidney Failure | Kidney Failure [Disease/Finding] | Kidney Failures | Kidney failure | RENAL FAILURE | RENAL FAILURE NOS | RF - Renal failure | Renal Failure | Renal Failure Syndrome | Renal Failures | Renal Insufficiency | Renal failure | Renal failure (disorder) | Renal failure NOS | Renal failure syndrome | Renal failure syndrome (disorder) | Renal failure syndrome, NOS | Renal failure unspecified | Renal failure unspecified (disorder) | Renal failure, unspecified | Renal insufficiency | Renal insufficiency syndrome | Renal insufficiency syndrome, NOS | Unspecified kidney failure | Unspecified renal failure | failure; renal | kidney failure | kidney; failure | renal failure | renal failure (diagnosis) | renal failure not otherwise specified | renal failure syndrome | renal; failure | syndrome renal failure CSP2006:inability of a kidney to excrete metabolites at normal plasma levels under conditions of normal loading or inability to retain electrolytes under conditions of normal intake. | MEDLINEPLUS_20151021:Healthy kidneys clean your blood by removing excess fluid, minerals, and wastes. They also make hormones that keep your bones strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful wastes can build up in your body. Your blood pressure may rise. Your body may retain excess fluid and not make enough red blood cells. This is called kidney failure.
If your kidneys fail, you need treatment to replace the work they normally do. The treatment options are dialysis or a kidney transplant. Each treatment has benefits and drawbacks. No matter which treatment you choose, you'll need to make some changes in your life, including how you eat and plan your activities. But with the help of healthcare providers, family, and friends, most people with kidney failure can lead full and active lives.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
| MSH2017_2016_08_12:A severe irreversible decline in the ability of kidneys to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. | NCI2016_02D:An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. | NCI2016_NCI-GLOSS_1602D:A condition in which the kidneys stop working and are not able to remove waste and extra water from the blood or keep body chemicals in balance. Acute or severe renal failure happens suddenly (for example, after an injury) and may be treated and cured. Chronic renal failure develops over many years, may be caused by conditions like high blood pressure or diabetes, and cannot be cured. Chronic renal failure may lead to total and long-lasting renal failure, called end-stage renal disease (ESRD). A person in ESRD needs dialysis (the process of cleaning the blood by passing it through a membrane or filter) or a kidney transplant. | NCI2016_NICHD_1602D:An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. HPO2016_07_04:HP:0000083|ICD10CM_2017:N19|ICD9CM_2014:586|MSH2017_2016_08_12:D051437|OMIM2016_04_17:MTHU000623|SNOMEDCT_US_2016_09_01:156092003|SNOMEDCT_US_2016_09_01:197656003|SNOMEDCT_US_2016_09_01:198524000|SNOMEDCT_US_2016_09_01:266553002|SNOMEDCT_US_2016_09_01:266616000|SNOMEDCT_US_2016_09_01:42399005 C2675059 Macrocytic anemia, refractory Macrocytic anemia, refractory | Refractory macrocytic anemia HPO2016_07_04:HP:0004861|OMIM2016_04_17:MTHU024105 C0853240 Mobius ii syndrome Congenital bilateral facial palsy | Congenital bilateral facial weakness | Congenital facial diplegia | Congenital paralysis of 6th and 12th cranial nerves | Facial Diplegia, Congenital | Mobius II syndrome | Mobius' II syndrome | Moebius II syndrome HPO2016_07_04:Facial diplegia (that is, bilateral facial palsy) with congenital onset. [HPO:curators] HPO2016_07_04:HP:0007188|MSH2017_2016_08_12:C531747 C1332903 Cerebellar vermis medulloblastoma Cerebellar Vermis Medulloblastoma | Medulloblastoma of Cerebellar Vermis | Medulloblastoma of the Cerebellar Vermis | Vermis Medulloblastoma NCI2016_02D:A medulloblastoma arising from the vermis of the cerebellum. C1861975 Cafe au lait spots, multiple CAFE-AU-LAIT SPOTS, MULTIPLE | Cafe au lait spots, multiple | Cafe-au-Lait Spots, Multiple | Multiple cafe-au-lait spots HPO2016_07_04:The presence of six or more cafe-au-lait spots. [DDD:cmoss] HPO2016_07_04:HP:0007565|MSH2017_2016_08_12:C537421|OMIM2016_04_17:114030|OMIM2016_04_17:MTHU014988 C1856016 Hydrolethalus syndrome 1 HLS1 | HYDROLETHALUS SYNDROME 1 | Hydrolethalus Syndrome 1 MSH2017_2016_08_12:C565504|OMIM2016_04_17:236680 C4021296 Flexion contracture of the 2nd toe Flexion contracture of the 2nd toe | Joint contractures of the 2nd toe HPO2016_07_04:One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively. [HPO:probinson] HPO2016_07_04:HP:0010327 C0332715 Articular fracture Fracture, Intra-Articular | Fracture, Intraarticular | Fracture, articular | Fracture, intra-articular | Fracture, intra-articular (morphologic abnormality) | Fractures, Intra-Articular | Fractures, Intraarticular | Intra Articular Fractures | Intra-Articular Fracture | Intra-Articular Fractures | Intra-Articular Fractures [Disease/Finding] | Intra-articular fracture | Intraarticular Fracture | Intraarticular Fractures | articular fracture | fractures intra articular | intra-articular fracture MSH2017_2016_08_12:Fractures of the articular surface of a bone. MSH2017_2016_08_12:D057072|SNOMEDCT_US_2016_09_01:51035001 C0271693 Acquired generalized lipodystrophy Acquired generalised lipodystrophy | Acquired generalized lipodystrophy | Acquired generalized lipodystrophy (disorder) | Acquired lipodystrophic diabetes | Acquired total lipoatrophy SNOMEDCT_US_2016_09_01:86907008 C0154141 Thyrotoxicosis with toxic single thyroid nodule Nodule - thyroid, toxic | Thyroid nodule (toxic) | Thyrotoxicosis due to uninodular goiter | Thyrotoxicosis due to uninodular goitre | Thyrotoxicosis with toxic single thyroid nodule | Thyrotoxicosis with toxic single thyroid nodule with thyrotoxic crisis or storm | Toxic thyroid nodule | Toxic thyroid nodule (disorder) | Toxic uninodular goiter | Toxic uninodular goiter (disorder) | Toxic uninodular goiter NOS | Toxic uninodular goiter NOS (disorder) | Toxic uninodular goiter with thyrotoxic crisis | Toxic uninodular goiter with thyrotoxic crisis (disorder) | Toxic uninodular goiter with thyrotoxic storm | Toxic uninodular goitre | Toxic uninodular goitre (disorder) | Toxic uninodular goitre NOS | Toxic uninodular goitre with thyrotoxic crisis | Toxic uninodular goitre with thyrotoxic storm | Toxic uninodular thyroid goiter | Toxic uninodular thyroid goitre | Uninodular goiter, toxic or with hyperthyroidism | goiter; thyrotoxicosis, uninodular | single; thyroid nodule, thyrotoxicosis | struma; toxic, uninodular | struma; uninodular, toxic or with hyperthyroidism | thyrotoxicosis; goiter, uninodular | thyrotoxicosis; single thyroid nodule | toxic nodule thyroid | toxic thyroid nodule | toxic unilateral goiter with thyrotoxic crisis or storm | toxic unilateral goiter with thyrotoxic crisis or storm (diagnosis) | toxic; goiter, uninodular | uninodular; goiter, toxic or with hyperthyroidism HPO2016_07_04:HP:0011786|ICD10CM_2017:E05.1|ICD10CM_2017:E05.11|ICD9CM_2014:242.1|SNOMEDCT_US_2016_09_01:154655004|SNOMEDCT_US_2016_09_01:154657007|SNOMEDCT_US_2016_09_01:190246008|SNOMEDCT_US_2016_09_01:237502000|SNOMEDCT_US_2016_09_01:267464006|SNOMEDCT_US_2016_09_01:69329005|SNOMEDCT_US_2016_09_01:73869005 C2673187 Erythrocytosis, familial, 4 ECYT4 | ERYTHROCYTOSIS, FAMILIAL, 4 | Erythrocytosis, Familial, 4 MSH2017_2016_08_12:C567086|OMIM2016_04_17:603349|OMIM2016_04_17:611783 C0339284 Polymorphous corneal dystrophy CHED1, FORMERLY | CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 | CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT, FORMERLY | Corneal Dystrophy, Hereditary Polymorphous Posterior | Corneal Dystrophy, Posterior Polymorphous, 1 | MAUMENEE CORNEAL DYSTROPHY | POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY | PPCD | PPCD1 | Polymorphous corneal dystrophy | Polymorphous corneal dystrophy (disorder) | Polymorphous posterior corneal dystrophy | Posterior Polymorphous Corneal Dystrophy | Posterior polymorphous corneal dystrophy | Posterior polymorphous corneal dystrophy (diagnosis) | Posterior polymorphous corneal dystrophy (disorder) | corneal dystrophy posterior polymorphous HPO2016_07_04:This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma. [HPO:probinson] HPO2016_07_04:HP:0007915|MSH2017_2016_08_12:C562745|OMIM2016_04_17:122000|OMIM2016_04_17:616441|SNOMEDCT_US_2016_09_01:29504002 C0265301 Sclerosteosis CORTICAL HYPEROSTOSIS WITH SYNDACTYLY | Cortical hyperostosis with syndactyly | SCLEROSTEOSIS 1 | SOST | SOST1 | Sclerosteosis | Sclerosteosis (disorder) MSH2017_2016_08_12:C537525|OMIM2016_04_17:269500|OMIM2016_04_17:605740|SNOMEDCT_US_2016_09_01:17568006 C0015630 Fantasies Fantasies | Fantasy | fantasies | fantasy MSH2017_2016_08_12:An imagined sequence of events or mental images, e.g., daydreams. MSH2017_2016_08_12:D005201 C0748300 Renal failure chronic contrast induced RENAL FAILURE CHRONIC CONTRAST INDUCED C1834079 Nystagmus 2, congenital, autosomal dominant (disorder) NYS2 | NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT | NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT (disorder) | NYSTAGMUS, CONGENITAL MOTOR, 2 | Nystagmus 2, congenital, autosomal dominant | Nystagmus congenital, motor 2 | Nystagmus, Congenital Motor, 2 MSH2017_2016_08_12:C537854|OMIM2016_04_17:164100 C1332992 Childhood ovarian teratoma Childhood Ovarian Teratoma | Childhood Teratoma of Ovary | Childhood Teratoma of the Ovary | Pediatric Ovarian Teratoma | Pediatric Teratoma of Ovary | Pediatric Teratoma of the Ovary NCI2016_02D:A mature or immature teratoma that arises from the ovary and occurs in children. C0004245 Atrioventricular block A-V block | ATRIOVENTRICULAR BLOCK | ATRIOVENTRICULAR BLOCK (NOS) | AV BLOCK | AV BLOCK (NOS) | AV Block | AV Blocks | AV block | AV block (NOS) | AV block, NOS | AVB - Atrioventricular block | Atrioventricular Block | Atrioventricular Block [Disease/Finding] | Atrioventricular Block by ECG Finding | Atrioventricular Block by EKG Finding | Atrioventricular Blocks | Atrioventricular Conduction Block | Atrioventricular Conduction Blocks | Atrioventricular block | Atrioventricular block (NOS) | Atrioventricular block (disorder) | Atrioventricular block NOS | Atrioventricular block NOS (disorder) | Atrioventricular block unspec. | Atrioventricular block unspecified | Atrioventricular block unspecified (disorder) | Atrioventricular block, NOS | Atrioventricular block, unspecified | Atrioventricular heart block | Block, AV | Block;atrioventricular | Blocks, AV | Conduction Block, Atrioventricular | Conduction Blocks, Atrioventricular | HEART BLOCK ATRIOVENTRICULAR | HEART BLOCK AV | Heart block AV | Heart block atrioventricular | Unspecified atrioventricular block | atrioventricular block | atrioventricular block (diagnosis) | atrioventricular blocks | atrioventricular heart block | atrioventricular; block | av block | av heart block | block; atrioventricular HPO2016_07_04:Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. [HPO:probinson] | MSH2017_2016_08_12:Impaired impulse conduction from HEART ATRIA to HEART VENTRICLES. AV block can mean delayed or completely blocked impulse conduction. | NCI2016_02D:An electrocardiographic finding of delayed or blocked cardiac electrical impulse conduction from the atria to the ventricles at the level of the atrioventricular node. HPO2016_07_04:HP:0001678|ICD10CM_2017:I44.3|ICD10CM_2017:I44.30|ICD9CM_2014:426.10|MSH2017_2016_08_12:D054537|OMIM2016_04_17:MTHU007163|SNOMEDCT_US_2016_09_01:195040005|SNOMEDCT_US_2016_09_01:195043007|SNOMEDCT_US_2016_09_01:233917008|SNOMEDCT_US_2016_09_01:58547007 C0003507 Aortic valve stenosis AORTIC STENOSIS | AORTIC VALVE STENOSIS | AORTIC VALVULAR STENOSIS | AS - Aortic stenosis | Aortic (valve) stenosis | Aortic Stenosis | Aortic Valve Stenoses | Aortic Valve Stenosis | Aortic Valve Stenosis [Disease/Finding] | Aortic stenosis | Aortic stenosis (disorder) | Aortic valve stenosis | Aortic valve stenosis (disorder) | Aortic valve stenosis, NOS | Aortic valve--Stenosis | Narrowing of aortic valve | STENOSIS AORTIC VALVE | Stenosed aortic valve | Stenoses, Aortic | Stenoses, Aortic Valve | Stenosis aortic valve | Stenosis of aorta | Stenosis of aortic valve | Stenosis, Aortic | Stenosis, Aortic Valve | Stenosis;aortic | Valve Stenoses, Aortic | Valve Stenosis, Aortic | Valvular aortic stenosis | aorta stenosis | aorta; stenosis, valve | aortic stenosis | aortic valve stenosis | aortic valve; stenosis | aortic valve; stricture | aortic valvular stenosis | aortic valvular stenosis (diagnosis) | as | stenose aortic | stenosis - aortic | stenosis aorta | stenosis aortic | stenosis; aortic valve CSP2006:constriction in the opening of the aortic valve or of the supravalvular or subvalvular regions. | HPO2016_07_04:The presence of a stenosis (narrowing) of the aortic valve. [HPO:probinson] | MSH2017_2016_08_12:A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. | NCI2016_02D:Narrowing of the orifice of the aortic valve. | NCI2016_FDA_1602D:Narrowing of the orifice of the aortic valve or of the supravalvular or subvalvular regions. HPO2016_07_04:HP:0001650|ICD10CM_2017:Q25.1|MSH2017_2016_08_12:D001024|OMIM2016_04_17:614823|OMIM2016_04_17:MTHU001441|OMIM2016_04_17:MTHU002342|OMIM2016_04_17:MTHU014954|OMIM2016_04_17:MTHU040396|SNOMEDCT_US_2016_09_01:390722003|SNOMEDCT_US_2016_09_01:60573004 C3805765 Quadriceps aplasia Absent quads | Quadriceps aplasia HPO2016_07_04:Absence of the quadriceps muscle. [HPO:curators] HPO2016_07_04:HP:0009788|OMIM2016_04_17:MTHU041372 C3809414 Cortical dysplasia, complex, with other brain malformations 3 CDCBM3 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 OMIM2016_04_17:602591|OMIM2016_04_17:615411 C2930953 Halal setton wang syndrome Halal Setton Wang syndrome | Hidrotic ectodermal dysplasia Halal type MSH2017_2016_08_12:C535621 C0152266 Mixed cellularity hodgkin lymphoma Classical Hodgkin lymphoma, mixed cellularity | Hodgkin disease, mixed cellularity | Hodgkin lymphoma, mixed cellularity | Hodgkin lymphoma, mixed cellularity (morphologic abnormality) | Hodgkin mixed cellularity lymphoma | Hodgkin's Disease Mixed Cellularity | Hodgkin's Lymphoma Mixed Cellularity | Hodgkin's disease mixed cellularity | Hodgkin's disease mixed cellularity stage unspecified | Hodgkin's disease with mixed cellularity | Hodgkin's disease, mixed cellularity | Hodgkin's disease, mixed cellularity (clinical) | Hodgkin's disease, mixed cellularity (disorder) | Hodgkin's disease, mixed cellularity NOS | Hodgkin's disease, mixed cellularity NOS (disorder) | Hodgkin's disease, mixed cellularity of unspecified site | Hodgkin's disease, mixed cellularity of unspecified site (disorder) | Hodgkin's disease, mixed cellularity, NOS | Hodgkin's mix cell-unspec site | Hodgkin's mixed cellular. NOS | Hodgkin; mixed cellularity | MCCHL | MCHL | Mixed Cellularity Classical Hodgkin Lymphoma | Mixed Cellularity Hodgkin Lymphoma | Mixed Cellularity Hodgkin's Disease | Mixed Cellularity Hodgkin's Lymphoma | Mixed cellularity Hodgkin lymphoma | Mixed cellularity classical Hodgkin lymphoma | [M]Hodgkin's disease, mixed cellularity | disease; Hodgkin's, mixed cellularity | mixed cellularity Hodgkin's disease | mixed cellularity Hodgkin's disease (diagnosis) NCI2016_02D:A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008) ICD10CM_2017:C81.2|ICD9CM_2014:201.6|MSH2017_2016_08_12:D006689|SNOMEDCT_US_2016_09_01:118609008|SNOMEDCT_US_2016_09_01:188574000|SNOMEDCT_US_2016_09_01:188583005|SNOMEDCT_US_2016_09_01:41529000 C4020772 Hypoplastic palate Hypoplastic palate HPO2016_07_04:HP:0010290 C1306341 Mental handicap MH - Mental handicap | Mental disability | Mental disability NOS | Mental handicap | Mental handicap (finding) | Mental handicap NOS | Mental impairment | Mental impairment NOS | Mental subnormality | Mental subnormality NOS | [X] (Unspecified mental retardation) or (mental deficiency [& subnormality] NOS) | [X] (Unspecified mental retardation) or (mental deficiency [& subnormality] NOS) (disorder) | [X]Mental deficiency NOS | [X]Mental subnormality NOS | disabilities mental | handicap mental | handicap; mental | handicapped mental | handicapped; mental | handicaps mental | mental disability | mental disability (history) | mental handicap | mental subnormality | mental; handicap | mental; handicapped ICD10CM_2017:F79|OMIM2016_04_17:MTHU023467|SNOMEDCT_US_2016_09_01:1855002|SNOMEDCT_US_2016_09_01:192557008|SNOMEDCT_US_2016_09_01:31748000|SNOMEDCT_US_2016_09_01:47437004 C1282968 Von willebrand disease, type 2a Hereditary von Willebrand disease type 2A | Hereditary von Willebrand disease type 2A (disorder) | Type 2A von Willebrand Disease | Type IIA von Willebrand Disease | VON WILLEBRAND DISEASE, TYPE 2A | VWD2A | von Willebrand Disease, Type 2A | von Willebrand Disease, Type IIA | von Willebrand disease type 2A | von Willebrand disease type 2A (disorder) | von Willebrand disease type 2A [Ambiguous] | von Willebrand disease, type IIA | von Willebrand disease, type IIA (disorder) | von Willebrand's disease type 2a | von Willebrand's disease type 2a (diagnosis) MSH2017_2016_08_12:D056728|OMIM2016_04_17:613160|OMIM2016_04_17:613554|SNOMEDCT_US_2016_09_01:128109005|SNOMEDCT_US_2016_09_01:359711001|SNOMEDCT_US_2016_09_01:359714009|SNOMEDCT_US_2016_09_01:87397002 C0393572 Disorders presenting primarily with chorea Disorder presenting primarily with chorea | Disorder presenting primarily with chorea (disorder) | Disorders presenting primarily with chorea | Disorders presenting primarily with chorea (disorder) SNOMEDCT_US_2016_09_01:230298007 C0396023 Chronic adenoiditis Chronic adenoiditis | Chronic adenoiditis (disorder) | chronic adenoiditis | chronic adenoiditis (diagnosis) ICD10CM_2017:J35.02|ICD9CM_2014:474.01|SNOMEDCT_US_2016_09_01:195794009|SNOMEDCT_US_2016_09_01:232420002 C0242707 Ventricular dysfunction, right Dysfunction, Right Ventricular | Dysfunctions, Right Ventricular | Right Ventricular Dysfunction | Right Ventricular Dysfunctions | Right ventricular dysfunction | Ventricular Dysfunction, Right | Ventricular Dysfunction, Right [Disease/Finding] | Ventricular Dysfunctions, Right MSH2017_2016_08_12:A condition in which the RIGHT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE or MYOCARDIAL INFARCTION, and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the right ventricular wall. | NCI2016_02D:Impairment of the right ventricular function associated with low ejection fraction and decreased motility of the right ventricular wall. | NCI2016_CTCAE_1602D:A disorder characterized by impairment of right ventricular function associated with low ejection fraction and a decrease in motility of the right ventricular wall. | NCI2016_NICHD_1602D:Impairment of the right ventricle to either fill or eject adequately. MSH2017_2016_08_12:D018497 C4280487 Enlargement of facial bones Enlargement of facial bones | Enlargement of facial skeleton HPO2016_07_04:HP:0005465 C0855179 Stage iv bladder adenocarcinoma Bladder adenocarcinoma stage IV | Stage IV Bladder Adenocarcinoma | Stage IV Bladder Adenocarcinoma AJCC v7 NCI2016_02D:Stage IV includes: (T4b, N0, M0); (Any T, N1-3, M0); (Any T, Any N, M1). T4b: Tumor invades pelvic wall, abdominal wall. N0: No regional lymph node metastasis. N1: Single regional lymph node metastasis in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node). N2: Multiple regional lymph node metastases in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node metastasis). N3: Metastasis to the common iliac lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.) C1859910 Albinism-microcephaly digital anomalies syndrome ALBINISM-MICROCEPHALY-DIGITAL ANOMALIES SYNDROME | Albinism-Microcephaly digital anomalies syndrome | Albinism-Microcephaly-Digital Anomalies Syndrome | MICROCEPHALY-ALBINISM-DIGITAL ANOMALIES SYNDROME | Microcephaly albinism digital anomalies syndrome | Microcephaly-Albinism-Digital Anomalies Syndrome MSH2017_2016_08_12:C537322|OMIM2016_04_17:203340 C4225385 Lethal congenital contracture syndrome 8 LCCS8 | LETHAL CONGENITAL CONTRACTURE SYNDROME 8 OMIM2016_04_17:616287 C4048826 Mud fever Cane Cutter Fever | Cane-Cutter Fever | Fever, Mud | Fever, Rice-Field | Fevers, Cane-Cutter | Mud Fever | Rice Field Fever | Rice-Field Fever MSH2017_2016_08_12:Infections with bacteria LEPTOSPIRA INTERROGANS. MSH2017_2016_08_12:D007922 C0153349 Malignant neoplasm of tongue CA - Cancer of tongue | Cancer of Tongue | Cancer of the Tongue | Cancer of tongue | Cancer, Tongue | Cancers, Tongue | Malig neop tongue NOS | Malignant Neoplasm of Tongue | Malignant Neoplasm of the Tongue | Malignant Tongue Neoplasm | Malignant Tongue Tumor | Malignant Tumor of Tongue | Malignant Tumor of the Tongue | Malignant neoplasm of tongue | Malignant neoplasm of tongue NOS | Malignant neoplasm of tongue NOS (disorder) | Malignant neoplasm of tongue, NOS | Malignant neoplasm of tongue, unspecified | Malignant tongue cancer | Malignant tongue neoplasm | Malignant tumor of tongue | Malignant tumor of tongue (disorder) | Malignant tumour of tongue | Neoplasm malig;tongue | TONGUE CANCER | TONGUE CANCER MALIGNANT | Tongue Cancer | Tongue Cancers | Tongue Neoplasm Malignant Stage Unspecified | Tongue Neoplasm, Malignant | Tongue neoplasm malignant stage unspecified | Tongue--Cancer | cancer of the tongue | cancer of tongue | cancer tongue | malignant neoplasm of the tongue | malignant neoplasm of tongue | malignant neoplasm of tongue (diagnosis) | malignant tongue cancer | malignant tongue neoplasm | malignant tumor of tongue | of tongue cancer | tongue cancer | tongue cancers NCI2016_02D:A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas. ICD10CM_2017:C02.9|ICD9CM_2014:141|ICD9CM_2014:141.9|MSH2017_2016_08_12:D014062|SNOMEDCT_US_2016_09_01:187646004|SNOMEDCT_US_2016_09_01:363375006|SNOMEDCT_US_2016_09_01:94101009 C4014738 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 | MPPH2 OMIM2016_04_17:611223|OMIM2016_04_17:615937 C4021432 Triangular shaped proximal phalanx of the 2nd finger Triangular proximal index finger phalanx | Triangular shaped innermost bone of index finger | Triangular shaped proximal phalanx of the 2nd finger HPO2016_07_04:Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. [HPO:curators] HPO2016_07_04:HP:0009587 C1840380 Persistent cavum septum pellucidum Cavum septum pellucidum | Large cavum septi pellucidi | Persistent cavum septum pellucidum | Widened cavum septum pellucidum HPO2016_07_04:If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. [HPO:curators] HPO2016_07_04:HP:0002389|OMIM2016_04_17:MTHU011849|OMIM2016_04_17:MTHU017761|OMIM2016_04_17:MTHU019029 C1853116 Spinocerebellar ataxia, autosomal recessive 8 (disorder) ARCA1 | ATAXIA, RECESSIVE, OF BEAUCE | Ataxia, Recessive, of Beauce | CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, TYPE 1 | Cerebellar Ataxia, Autosomal Recessive, Type 1 | SCAR8 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) | Spinocerebellar Ataxia, Autosomal Recessive 8 MSH2017_2016_08_12:C565188|OMIM2016_04_17:608441|OMIM2016_04_17:610743 C1864584 Frontal balding (male pattern baldness) Frontal balding | Frontal balding (male pattern baldness) | frontal male pattern baldness | frontal male pattern baldness (physical finding) HPO2016_07_04:Absence of hair in the anterior midline and/or parietal areas. [pmid:19125436] HPO2016_07_04:HP:0002292|OMIM2016_04_17:MTHU005270 C0206641 Osteochondromatosis Ecchondrosis | Multiple Osteochondromas | Osteochondromatoses | Osteochondromatosis | Osteochondromatosis (disorder) | Osteochondromatosis (morphologic abnormality) | Osteochondromatosis NOS | Osteochondromatosis [Disease/Finding] | Osteochondromatosis, NOS | [M]Osteochondromatosis NOS | [M]Osteochondromatosis NOS (morphologic abnormality) | ecchondrosis | osteochondromatosis MSH2017_2016_08_12:A condition marked by the presence of multiple osteochondromas. (Dorland, 27th ed) | NCI2016_02D:An autosomal dominant neoplastic chondrogenic process affecting multiple sites. It is caused by mutations in the EXT1 or EXT2 genes. Grossly and microscopically, the lesions resemble an osteochondroma. MSH2017_2016_08_12:D018216|SNOMEDCT_US_2016_09_01:134170006|SNOMEDCT_US_2016_09_01:302860009|SNOMEDCT_US_2016_09_01:66467005 C0266815 Cow milk allergy Allergy to cow's milk | Cow milk allergy | Cow's milk allergy | Cow's milk protein sensitivity | Cow's milk protein sensitivity (disorder) | Milk allergy | allergy cow's milk | cow's milk allergy HPO2016_07_04:Hypersensitivity in form of an adverse immune reaction against cow milk protein. [HPO:sdoelken] HPO2016_07_04:HP:0100327|OMIM2016_04_17:MTHU022911|SNOMEDCT_US_2016_09_01:15911003|SNOMEDCT_US_2016_09_01:197021003 C1710111 Small intestinal squamous cell carcinoma Small Intestinal Squamous Cell Carcinoma NCI2016_02D:A carcinoma that arises from the small intestine. It is composed of malignant squamous cells. C3812646 Drug induced cutaneous vasculitis Drug Induced Cutaneous Vasculitis | Drug Induced Vasculitis NCI2016_02D:A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations.(NICHD) | NCI2016_NICHD_1602D:A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations. C4025596 Abnormality of connective tissue Abnormality of connective tissue HPO2016_07_04:Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). [HPO:curators] HPO2016_07_04:HP:0003549 C2930984 Malignant hyperthermia susceptibility type 5 Malignant hyperpyrexia susceptibility type 5 | Malignant hyperthermia susceptibility type 5 MSH2017_2016_08_12:C535698 C0026229 Mite infestation Acariasis | Acariasis (disorder) | Acariasis NOS | Acariasis NOS (disorder) | Acariasis, unspecified | Acarine dermatitis | Acarine dermatosis | Acarinosis | Dermatosis caused by mites | Dermatosis caused by mites (disorder) | Dermatosis due to mites | Dermatosis due to mites (disorder) | Infestation (by);mites | Infestation by Acarina | Infestation by Acarina (disorder) | Infestation by Acarina (disorder) [Ambiguous] | Infestation by Acarina, NOS | Infestation by mites NOS | Infestation, Mite | Infestations, Mite | Mite Infestation | Mite Infestations | Mite Infestations [Disease/Finding] | Mite infestation | Mite infestation, NOS | acariasis | acariasis (diagnosis) | dermatitis; acarine | infestation by mites | infestation by mites (diagnosis) | infestation; mites | mite infestation | mite infestations MSH2017_2016_08_12:Infestations with arthropods of the subclass ACARI, superorder Acariformes. ICD10CM_2017:B88.0|ICD10CM_2017:B88.9|ICD9CM_2014:133|ICD9CM_2014:133.9|MSH2017_2016_08_12:D008924|SNOMEDCT_US_2016_09_01:154422001|SNOMEDCT_US_2016_09_01:187214007|SNOMEDCT_US_2016_09_01:187217000|SNOMEDCT_US_2016_09_01:240885009|SNOMEDCT_US_2016_09_01:266224002|SNOMEDCT_US_2016_09_01:78166003 C0242217 Calcium pyrophosphate dihydrate deposition Calcium Pyrophosphate Dihydrate Deposition MSH2017_2016_08_12:D002805 C0206636 Chondromatosis Cartilage analog of fibromatosis | Cartilage analogue of fibromatosis | Chondromatoses | Chondromatosis | Chondromatosis (disorder) | Chondromatosis (morphologic abnormality) | Chondromatosis NOS | Chondromatosis [Disease/Finding] | Chondromatosis, NOS | [M]Chondromatosis NOS | chondromatosis MSH2017_2016_08_12:Multiple formation of chondromas. (Dorland, 27th ed) | NCI2016_02D:A multifocal benign neoplasm arising from bone or soft tissue. It is characterized by the presence of chondrocytes and is composed of hyaline cartilage. MSH2017_2016_08_12:D018210|SNOMEDCT_US_2016_09_01:302861008|SNOMEDCT_US_2016_09_01:83944004 C0746206 Lung lul pulmonary infiltrate LUNG LUL PULMONARY INFILTRATE C0694549 Community acquired pneumonia Community acquired pneumonia | Community acquired pneumonia (disorder) | Community-Acquired Pneumonia | Community-acquired Pneumonia | PNEUMONIA COMMUNITY ACQUIRED | acquired community pneumonia | community acquired pneumonia | community-acquired pneumonia | community-acquired pneumonia (diagnosis) NCI2016_02D:Pneumonia that is not acquired in a hospital or long-term care facility setting.(NICHD) | NCI2016_NICHD_1602D:Pneumonia that is not acquired in a hospital or long-term care facility setting. SNOMEDCT_US_2016_09_01:385093006 C4021533 Severe sensorineural hearing impairment Severe sensorineural deafness | Severe sensorineural hearing impairment | Severe sensorineural hearing loss HPO2016_07_04:A severe form of sensorineural hearing impairment. [HPO:probinson] HPO2016_07_04:HP:0008625 C0033999 Pterygium PTERYGIUM | Pterygia | Pterygium | Pterygium (disorder) | Pterygium NOS | Pterygium NOS (disorder) | Pterygium [Disease/Finding] | Pterygium of eye | Pterygium, NOS | Pterygium, unspecified | Pterygiums | Surfer's eye | Unspecified pterygium | Unspecified pterygium (disorder) | Unspecified pterygium of eye | Unspecified pterygium of unspecified eye | Web eye | conjunctival pterygium | eye pterygium | eye web | eye webbed | eye webbing | eye webs | eyes webs | pterygium | pterygium (diagnosis) | pterygium (physical finding) | pterygium eye | pterygium nos | pterygiums HPO2016_07_04:Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. [HPO:probinson] | MSH2017_2016_08_12:An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed) HPO2016_07_04:HP:0001059|ICD10CM_2017:H11.0|ICD10CM_2017:H11.00|ICD10CM_2017:H11.009|ICD9CM_2014:372.4|ICD9CM_2014:372.40|MSH2017_2016_08_12:D011625|OMIM2016_04_17:MTHU010687|SNOMEDCT_US_2016_09_01:155165000|SNOMEDCT_US_2016_09_01:193879003|SNOMEDCT_US_2016_09_01:193884009|SNOMEDCT_US_2016_09_01:77489003 C0017650 Globus pharyngeus GLOBUS HYSTERICUS | Globus | Globus Hystericus | Globus hystericus | Globus hystericus (finding) | Globus pharyngeus | Globus syndrome | Idiopathic globus | globus hystericus | globus hystericus (diagnosis) | globus pharyngeus | globus syndrome NCI2016_02D:Persistent or intermittent non-painful sensation of a lump or foreign body in the throat occurring between meals in the absence of dysphagia, odynophagia, evidence of gastroesophageal acid reflux, or histopathogically based esophageal motility disorders.(NICHD) | NCI2016_NICHD_1602D:Persistent or intermittent non-painful sensation of a lump or foreign body in the throat occurring between meals in the absence of dysphagia, odynophagia, evidence of gastroesophageal acid reflux, or histopathologically based esophageal motility disorders. MSH2017_2016_08_12:D003291|SNOMEDCT_US_2016_09_01:154923002|SNOMEDCT_US_2016_09_01:191715001|SNOMEDCT_US_2016_09_01:268772005|SNOMEDCT_US_2016_09_01:44037003 C0877015 Pelvic organ prolapse Organ Prolapse, Pelvic | Organ Prolapses, Pelvic | Pelvic Organ Prolapse | Pelvic Organ Prolapse [Disease/Finding] | Pelvic Organ Prolapses | Prolapse, Pelvic Organ | Prolapse, Urogenital | Prolapses, Pelvic Organ | Prolapses, Urogenital | Urogenital Prolapse | Urogenital Prolapses | Urogenital prolapse MSH2017_2016_08_12:Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, DYSPAREUNIA; URINARY STRESS INCONTINENCE; and FECAL INCONTINENCE. MSH2017_2016_08_12:D056887 C0031090 Periodontal diseases Disease of supporting structures of teeth | Disease of supporting structures of teeth (disorder) | Disease of supporting structures of teeth, NOS | Disease, Periodontal | Diseases, Periodontal | PERIODONTAL DISEASE | Parodontoses | Parodontosis | Periodontal Disease | Periodontal Diseases | Periodontal Diseases [Disease/Finding] | Periodontal Disorder | Periodontal disease | Periodontal disease (disorder) | Periodontal disease, NOS | Periodontal disease, unspecified | Periodontal disorder NOS | disease (or disorder); parodontal | disease (or disorder); periodontal | parodontosis | periodontal disease | periodontal disease (diagnosis) | periodontium disorder CSP2006:condition in which there is a deviation from or interruption of the normal structure or function of the tissues that support, attach, and surround the teeth. | MSH2017_2016_08_12:Pathological processes involving the PERIODONTIUM including the gum (GINGIVA), the alveolar bone (ALVEOLAR PROCESS), the DENTAL CEMENTUM, and the PERIODONTAL LIGAMENT. | NCI2016_02D:An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support. | NCI2016_CTCAE_1602D:A disorder in the gingival tissue around the teeth. HPO2016_07_04:HP:0000704|ICD10CM_2017:K05.6|MSH2017_2016_08_12:D010510|OMIM2016_04_17:MTHU016203|SNOMEDCT_US_2016_09_01:13877006|SNOMEDCT_US_2016_09_01:196354003|SNOMEDCT_US_2016_09_01:2556008 C1833488 Generalized seizures, recurrent Generalized seizures, recurrent | Infrequent generalized seizures HPO2016_07_04:HP:0002197|OMIM2016_04_17:MTHU006377 C1858133 Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive ARCI5 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 | ICHTHYOSIS, LAMELLAR, 3, FORMERLY | ICHTHYOSIS, NONLAMELLAR AND NONERYTHRODERMIC, CONGENITAL, AUTOSOMAL RECESSIVE | Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive | LI3, FORMERLY | NNCI MSH2017_2016_08_12:C565749|OMIM2016_04_17:604777|OMIM2016_04_17:611495 C1861580 Chondrocalcinosis due to apatite crystal deposition CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION | Chondrocalcinosis due to Apatite crystal deposition | FAMILIAL APATITE DISEASE | Familial Apatite disease MSH2017_2016_08_12:C535939|OMIM2016_04_17:118610 C4025696 Paresis of extensor muscles of the big toe Paresis of extensor muscles of the big toe HPO2016_07_04:HP:0002601 C0155724 Occlusion and stenosis of vertebral artery Occlusion and stenosis of vertebral artery ICD10CM_2017:I65.0|ICD9CM_2014:433.2 C0040458 Teeth unerupted Teeth, Unerupted | Tooth unerupted | Tooth unerupted (finding) | Tooth, Unerupted | Tooth, Unerupted [Disease/Finding] | UE - Tooth unerupted | Unerupted Teeth | Unerupted Tooth | Unerupted teeth | Unerupted tooth | teeth unerupted | tooth unerupted | unerupted teeth MSH2017_2016_08_12:A normal developing tooth which has not yet perforated the oral mucosa or one that fails to erupt in the normal sequence or time interval expected for the type of tooth in a given gender, age, or population group. MSH2017_2016_08_12:D014097|OMIM2016_04_17:MTHU016121|SNOMEDCT_US_2016_09_01:278658009|SNOMEDCT_US_2016_09_01:38127003 C1862866 Ankyloblepharon filiforme adnatum and cleft palate AFA | ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE | Ankyloblepharon Filiforme Adnatum and Cleft Palate | Ankyloblepharon filiforme adnatum and cleft palate | Ankyloblepharon filiforme adnatum cleft palate | Congenital filiform fusion of the eyelids with cleft palate and-or cleft lip MSH2017_2016_08_12:C536373|OMIM2016_04_17:106250 C1959620 Dihydropyrimidine dehydrogenase deficiency DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY | DPD DEFICIENCY | DPD Deficiencies | DPD Deficiency | DPD deficiency | DPYD DEFICIENCY | Deficiencies, DPD | Deficiencies, Dihydropyrimidine Dehydrogenase | Deficiency, DPD | Deficiency, Dihydropyrimidine Dehydrogenase | Dehydrogenase Deficiencies, Dihydropyrimidine | Dehydrogenase Deficiency, Dihydropyrimidine | Dihydropyrimidine Dehydrogenase Deficiencies | Dihydropyrimidine Dehydrogenase Deficiency | Dihydropyrimidine Dehydrogenase Deficiency [Disease/Finding] | Dihydropyrimidine dehydrogenase deficiency | Dihydropyrimidine dehydrogenase deficiency (disorder) | Dihydrothymine dehydrogenase deficiency | Dihydrouracil Dehydrogenase Deficiency | Dihydrouracil dehydrogenase (NADP) deficiency | Dihydrouracil dehydrogenase (NADP+) deficiency | Dihydrouracil dehydrogenase (NADP+) deficiency (disorder) | Dihydrouracil dehydrogenase (NADP+) deficiency | Dihydrouracil dehydrogenase (NADP+) deficiency (disorder) | Dihydrouracil dehydrogenase (NADP^+^) deficiency | Dihydrouracil dehydrogenase (NADP^+^) deficiency (disorder) | Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate +) deficiency | Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate +) deficiency (disorder) | Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate +) deficiency | Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate +) deficiency (disorder) | Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency | Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency (disorder) | Familial Pyrimidemia | Familial Pyrimidemias | Familial Pyrimidinemia | Familial Pyrimidinemias | Familial pyrimidinaemia | Familial pyrimidinemia | Hereditary Thymine Uraciluria | Hereditary Thymine-Uraciluria | Hereditary Thymine-Uracilurias | Hereditary thymine-uraciluria | PYRIMIDINEMIA, FAMILIAL | Pyrimidemia, Familial | Pyrimidemias, Familial | Pyrimidinemia, Familial | Pyrimidinemias, Familial | Sensitivity to fluorouracil toxicity | THYMINE-URACILURIA, HEREDITARY | Thymine Uraciluria, Hereditary | Thymine-Uracilurea | Thymine-Uraciluria | Thymine-Uraciluria, Hereditary | Thymine-Uracilurias, Hereditary | dihydropyrimidine dehydrogenase deficiency (diagnosis) MSH2017_2016_08_12:An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. | NCI2016_02D:A rare disorder characterized by an inborn error in pyrimidine metabolism. It results in the deficiency or complete absence of the enzyme dihydropyrimidine dehydrogenase. Individuals with this disorder may develop a severe toxicity reaction if they are exposed to the chemotherapeutic agent 5-fluorouracil. HPO2016_07_04:HP:0003654|MSH2017_2016_08_12:D054067|OMIM2016_04_17:274270|OMIM2016_04_17:612779|SNOMEDCT_US_2016_09_01:238016000|SNOMEDCT_US_2016_09_01:77365006 C2189683 Late cva effects: vision disturbances late CVA effects: vision disturbances | vision disturbances as late effect of cerebrovascular accident | vision disturbances as late effect of cerebrovascular accident (diagnosis) C2749688 Abnormal isoelectric focusing of serum transferrin Abnormal isoelectric focusing of serum transferrin | Abnormal isoelectric focusing of serum transferring | Abnormal transferrin isoelectric focusing HPO2016_07_04:Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded. [HPO:probinson, pmid:22516080] HPO2016_07_04:HP:0003160|OMIM2016_04_17:MTHU026186 C1845499 Mental retardation, x-linked 77 MENTAL RETARDATION, X-LINKED 77 | MRX77 | Mental Retardation, X-Linked 77 MSH2017_2016_08_12:C564511|OMIM2016_04_17:300454 C3805420 Popliteal pterygium Popliteal pterygium HPO2016_07_04:A pterygium (or pterygia) occuring in the popliteal region (the back of the knee). [HPO:probinson] HPO2016_07_04:HP:0009756|OMIM2016_04_17:MTHU041204 C1847879 X-linked dominant X-linked dominant | X-linked dominant inheritance HPO2016_07_04:A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. [HPO:curators] HPO2016_07_04:HP:0001423|OMIM2016_04_17:MTHU003993 C0011633 Dermatomyositis DERMATOMUCOSOMYOSITIS | DERMATOMYOSITIS | DM - Dermatomyositis | Dermatomyositides | Dermatomyositis | Dermatomyositis (disorder) | Dermatomyositis [Disease/Finding] | Dermatopolymyositides | Dermatopolymyositis | Dermatopolymyositis (diagnosis) | Dermatopolymyositis, unspec | Dermatopolymyositis, unspecified | Dermatopolymyositis, unspecified, organ involvement unspecified | POLYMYOSITIS DERMATOMYOSITIS | POLYMYOSITIS/DERMATOMYOSITIS | Polymyositis Dermatomyositis | Polymyositis with skin involvement | Polymyositis-Dermatomyositides | Polymyositis-Dermatomyositis | WAGNER-UNVERRICHT SYNDROME | Wagner-Unverricht syndrome | [X]Dermatopolymyositis, unspec | [X]Dermatopolymyositis, unspecified | [X]Dermatopolymyositis, unspecified (disorder) | dermatomucosomyositis | dermatomyositides | dermatomyositis | dermatomyositis (diagnosis) | dermatopolymyositis | polymyositis; with involvement of skin CHV2011_02:an inflammatory muscle disease accompanied by muscle weakness and skin rash | CSP2006:progressive condition characterized by symmetric proximal muscular weakness with elevated serum levels of muscle enzymes and a skin rash, typically a purplish-red erythema on the face, and edema of the eyelids and periorbital tissue; affected muscle tissue shows degeneration of fibers with a chronic inflammatory reaction; occurs in children and adults, and in the latter may be associated with visceral cancer or other disorders of connective tissue. | MSH2017_2016_08_12:A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6) ICD10CM_2017:M33|ICD10CM_2017:M33.9|ICD10CM_2017:M33.90|ICD9CM_2014:710.3|MSH2017_2016_08_12:D003882|OMIM2016_04_17:MTHU018873|SNOMEDCT_US_2016_09_01:156456005|SNOMEDCT_US_2016_09_01:201445002|SNOMEDCT_US_2016_09_01:201448000|SNOMEDCT_US_2016_09_01:203795006|SNOMEDCT_US_2016_09_01:38826005|SNOMEDCT_US_2016_09_01:396230008 C1290673 Deflection on mandibular opening Deflection on mandibular opening | Deflection on mandibular opening (disorder) | Deviation on wide mandibular opening SNOMEDCT_US_2016_09_01:109640004 C0341253 Brunner gland hyperplasia Brunner gland hyperplasia | Brunner's gland hyperplasia | Brunner's gland hyperplasia (disorder) | Hyperplasia of Brunner glands of duodenum | Hyperplasia of Brunner glands of duodenum (disorder) SNOMEDCT_US_2016_09_01:235700007|SNOMEDCT_US_2016_09_01:413215003 C0012716 Disorder of magnesium metabolism DISORDERS OF MAGNESIUM METABOLISM | Disorder of magnesium met NOS | Disorder of magnesium metabolism | Disorder of magnesium metabolism (disorder) | Disorder of magnesium metabolism NOS | Disorder of magnesium metabolism NOS (disorder) | Disorder of magnesium metabolism, NOS | Disorders of magnesium metabolism | Disorders of magnesium metabolism, unspecified | MAGNESIUM METABOLISM DISORDER | Magnesium metabolism disorder | Magnesium metabolism disorders | disorder of magnesium metabolism | disorders of magnesium metabolism | magnesium disorder | magnesium metabolism disorder | magnesium; metabolic disorder | metabolic disorder; magnesium ICD10CM_2017:E83.4|ICD10CM_2017:E83.40|ICD9CM_2014:275.2|SNOMEDCT_US_2016_09_01:190857007|SNOMEDCT_US_2016_09_01:60853003 C1274759 Acquired pseudoxanthoma elasticum Acquired pseudoxanthoma elasticum | Acquired pseudoxanthoma elasticum (disorder) SNOMEDCT_US_2016_09_01:403401007 C1851419 Madelung-like forearm deformities Madelung-like forearm deformities HPO2016_07_04:HP:0003068|OMIM2016_04_17:MTHU018228 C0477611 Spin osteochondrosis, unsp Osteochondroses, Spinal | Osteochondrosis of Spine | Osteochondrosis of spine | Osteochondrosis, Spinal | Spin osteochondrosis, unsp | Spinal Osteochondroses | Spinal Osteochondrosis | Spinal Osteochondrosis [Disease/Finding] | Spinal osteochondrosis | Spinal osteochondrosis, unspecified | Spine Osteochondroses | Spine Osteochondrosis | Unspecified spinal osteochondrosis | Vertebral osteochondrosis | [X]Spin osteochondrosis, unsp | [X]Spinal osteochondrosis, unspecified | [X]Spinal osteochondrosis, unspecified (disorder) | osteochondrosis; vertebra | spinal osteochondrosis (diagnosis) | vertebra; osteochondrosis MSH2017_2016_08_12:A bone disorder involving ossification centers (EPIPHYSES) of the VERTEBRAL COLUMN. ICD10CM_2017:M42|ICD10CM_2017:M42.9|MSH2017_2016_08_12:D055035|SNOMEDCT_US_2016_09_01:203809000 C1837406 Hypoplasia involving bones of the upper limbs Hypoplasia involving bones of the upper limbs | Short arms | Shortening of the arms | Upper limb undergrowth HPO2016_07_04:Arm shortening because of underdevelopment of one or more bones of the upper extremity. [HPO:probinson] HPO2016_07_04:HP:0009824|OMIM2016_04_17:MTHU001750 C1866854 Spastic paraplegia, epilepsy, and mental retardation SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION | SPEMR | Spastic Paraplegia, Epilepsy, And Mental Retardation | Spastic paraplegia epilepsy mental retardation MSH2017_2016_08_12:C536869|OMIM2016_04_17:182610 C0342100 Infection nipple Infected nipple | Nipple infection | Nipple infection (diagnosis) | Nipple infection (disorder) | disorder of nipple infection | infection nipple | infection; nipple | infections nipple | infections nipples | nipple infection | nipple; infection SNOMEDCT_US_2016_09_01:237462004 C1834929 Congenital microgastria and limb reduction defects Congenital microgastria and limb reduction defects | MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION | MLRD | Microgastria limb reduction defect | Microgastria-limb reduction defects association MSH2017_2016_08_12:C537554|OMIM2016_04_17:156810 C1855348 Marfanoid habitus-microcephaly-glomerulonephritis syndrome MARFANOID HABITUS WITH MICROCEPHALY AND GLOMERULONEPHRITIS | Marfanoid Habitus with Microcephaly and Glomerulonephritis | marfanoid habitus-microcephaly-glomerulonephritis syndrome JABL99:A syndrome marked by marfanoid habitus (tall stature with long and slim limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia) associated with microcephaly and glomerulonephritis. MSH2017_2016_08_12:C565411|OMIM2016_04_17:248760 C0023461 Leukemia, mast-cell Leukemia, Mast Cell | Leukemia, Mast-Cell | Leukemia, Mast-Cell [Disease/Finding] | Leukemias, Mast-Cell | MAST CELL LEUKEMIA | Mast Cell Leukemia | Mast cell leukaemia | Mast cell leukaemia (clinical) | Mast cell leukaemia -RETIRED- | Mast cell leukemia | Mast cell leukemia (clinical) | Mast cell leukemia (disorder) | Mast cell leukemia (morphologic abnormality) | Mast cell leukemia -RETIRED- | Mast cell leukemia NOS | Mast cell leukemia [dup] (disorder) | Mast-Cell Leukemia | Mast-Cell Leukemias | Mastocytic leukaemia | Mastocytic leukemia | Noncutaneous systemic mastocytosis | [M]Mast cell leukaemia | [M]Mast cell leukemia | leukemia; mast cell | mast cell leukaemia | mast cell leukemia | mast cell leukemia (diagnosis) | mast cell; leukemia MSH2017_2016_08_12:A form of systemic mastocytosis (MASTOCYTOSIS, SYSTEMIC) characterized by the presence of large numbers of tissue MAST CELLS in the peripheral blood without skin lesions. It is a high-grade LEUKEMIA disease with bone marrow smear of >20% MAST CELLS, multi-organ failure and a short survival. | NCI2016_02D:A variant of systemic mastocytosis with involvement of the bone marrow (20% or more mast cells) and the peripheral blood (mast cells account for 10% or more of peripheral blood white cells). (WHO, 2001) ICD10CM_2017:C94.3|ICD10CM_2017:C94.30|MSH2017_2016_08_12:D007946|OMIM2016_04_17:164920|SNOMEDCT_US_2016_09_01:110002002|SNOMEDCT_US_2016_09_01:128924002|SNOMEDCT_US_2016_09_01:188755006|SNOMEDCT_US_2016_09_01:70798001 C1304203 Cholinergic dermographism Cholinergic dermographism | Cholinergic dermographism (disorder) SNOMEDCT_US_2016_09_01:402412003 C1518574 Oncocytic breast carcinoma Oncocytic Breast Carcinoma NCI2016_02D:A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population. C3150833 Occult macular dystrophy OCCULT MACULAR DYSTROPHY | OCMD | OMD | Occult macular dystrophy HPO2016_07_04:HP:0030636|OMIM2016_04_17:608581|OMIM2016_04_17:613587 C0023441 Leukemia, experimental Animal Leukemia Model | Animal Leukemia Models | Experimental Leukemia | Experimental Leukemias | Leukemia Model, Animal | Leukemia Models, Animal | Leukemia, Experimental | Leukemia, Experimental [Disease/Finding] | Leukemias, Experimental MSH2017_2016_08_12:Leukemia induced experimentally in animals by exposure to leukemogenic agents, such as VIRUSES; RADIATION; or by TRANSPLANTATION of leukemic tissues. MSH2017_2016_08_12:D007942 C2063326 Cardiomyopathy, right ventricular Cardiomyopathy, esp. right ventricular | Cardiomyopathy, right ventricular | Right ventricular cardiomyopathy | cardiomyopathy right ventricular | right ventricular cardiomyopathy | right ventricular cardiomyopathy (diagnosis) HPO2016_07_04:Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease. [HPO:probinson, pmid:17916581] HPO2016_07_04:HP:0011663|OMIM2016_04_17:MTHU021714 C1034112 Chalazion Chalazion | Genus Chalazion | chalazion NCBI2016_03_21:80250 C1864852 Catshl syndrome CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME | CATSHL SYNDROME | CATSHL syndrome | Camptodactyly, tall stature, and hearing loss syndrome MSH2017_2016_08_12:C537975|OMIM2016_04_17:134934|OMIM2016_04_17:610474 C0001752 African swine fever ASF | African Swine Fever | African Swine Fever [Disease/Finding] | African swine fever | African swine fever (disorder) | Swine Fever, African | Wart Hog Disease | Wart hog disease | Wart-Hog Disease | Wart-Hog Diseases MSH2017_2016_08_12:A sometimes fatal ASFIVIRUS infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros). MSH2017_2016_08_12:D000357|SNOMEDCT_US_2016_09_01:31713007 C1562689 Congenital hereditary endothelial dystrophy CHED-congenital hereditary endothelial dystrophy | Congenital hereditary endothelial dystrophy | Congenital hereditary endothelial dystrophy (disorder) | congenital hereditary endothelial dystrophy (diagnosis) SNOMEDCT_US_2016_09_01:417651000 C1841684 Carpal delayed ossification Carpal delayed ossification | Carpal ossification delay | Delayed carpal bone age | Delayed carpal bone ossification | Delayed carpal ossification | Delayed maturation of carpal bones | Delayed ossification of carpal bones HPO2016_07_04:Ossification of carpal bones occurs later than age-adjusted norms. [HPO:probinson] HPO2016_07_04:HP:0001216|OMIM2016_04_17:MTHU000598|OMIM2016_04_17:MTHU002800|OMIM2016_04_17:MTHU017993|OMIM2016_04_17:MTHU022940|OMIM2016_04_17:MTHU040335 C1535939 Pneumocystis jiroveci pneumonia Interstitial plasma cell pneumonia | PCP | PCP - Pneumocystis carinii pneumonia | PCP - Pneumocystis pneumonia | PJP | PNEUMOCYSTIS CARINII PNEUMONIA | PNEUMOCYSTIS PNEUMONIA | PNEUMONIA, INTERSTITIAL PLASMA CELL | PNEUMONIA, PNEUMOCYSTIS | PNEUMONIA, PNEUMOCYSTIS CARINII | Pneumocystis | Pneumocystis Carinii Pneumonia | Pneumocystis Pneumonia | Pneumocystis Pneumonias | Pneumocystis carinii Pneumonia | Pneumocystis carinii pneumonia | Pneumocystis carinii pneumonia (disorder) | Pneumocystis jiroveci pneumonia | Pneumocystis jiroveci pneumonia (diagnosis) | Pneumocystis jirovecii Pneumonia | Pneumocystis jirovecii pneumonia | Pneumocystis pneumonia | Pneumocystoses | Pneumocystosis | Pneumocystosis (disorder) | Pneumocystosis jiroveci pneumonia | Pneumocystosis jiroveci pneumonia (disorder) | Pneumocystosis jirovecii pneumonia | Pneumocystosis jirovecii pneumonia (disorder) | Pneumocystosis pneumonia | Pneumocystosis, pulmonary | Pneumocytosis | Pneumonia due to Pneumocystis carinii | Pneumonia, Interstitial Plasma Cell | Pneumonia, Pneumocystis | Pneumonia, Pneumocystis [Disease/Finding] | Pneumonia, Pneumocystis carinii | Pneumonias, Pneumocystis | Pneumonias, Pneumocystis carinii | Pulmonary pneumocystosis | Pulmonary pneumocystosis (disorder) | interstitial plasma cell pneumonia | lymphoplasmacytic interstitial pneumonia | pcp | plasma cell interstitial pneumonia | plasma cell interstitial pneumonia (diagnosis) | pneumocystis carinii pneumonia | pneumocystis carinii pneumonia (PCP) | pneumocystis pneumonia | pneumocystosis CSP2006:pulmonary disease in humans occurring in immunodeficient or malnourished patients or infants, characterized by dyspnea, tachypnea, and hypoxemia; Pneumocystis pneumonia is a frequent opportunistic infection in AIDS; also found in other mammals where it is caused by related species of Pneumocystis. | MSH2017_2016_08_12:A pulmonary disease in humans occurring in immunodeficient or malnourished patients or infants, characterized by DYSPNEA, tachypnea, and HYPOXEMIA. Pneumocystis pneumonia is a frequently seen opportunistic infection in AIDS. It is caused by the fungus PNEUMOCYSTIS JIROVECII. The disease is also found in other MAMMALS where it is caused by related species of Pneumocystis. | NCI2016_02D:Pneumonia resulting from infection with Pneumocystis jirovecii, frequently seen in the immunologically compromised, such as persons with AIDS, or steroid-treated individuals, the elderly, or premature or debilitated babies during their first three months. Patients may be only slightly febrile (or even afebrile), but are likely to be extremely weak, dyspneic, and cyanotic. This is a major cause of morbidity among patients with AIDS. ICD10CM_2017:B59|ICD9CM_2014:136.3|MSH2017_2016_08_12:D011020|SNOMEDCT_US_2016_09_01:155557008|SNOMEDCT_US_2016_09_01:415125002|SNOMEDCT_US_2016_09_01:57541005|SNOMEDCT_US_2016_09_01:88860002 C3553831 Microcephaly, short stature, and polymicrogyria with or without seizures MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES | MSSP | PMGYS | POLYMICROGYRIA WITH SEIZURES OMIM2016_04_17:614833 C0023976 Long qt syndrome LONG QT SYNDROME | LQT | Long Q-T syndrome | Long Q-T syndrome (disorder) | Long QT Syndrome | Long QT Syndrome [Disease/Finding] | Long QT syndrome | Long QT syndrome (disorder) | Long QT syndrome, NOS | Prolonged Q-T interval syndrome | Prolonged Q-T interval syndrome, NOS | Ventricular arrhythmia associated with long QT syndrome | long QT syndrome | long QT syndrome (diagnosis) | long q t syndrome | long q-t syndrome | long qt syndrome CSP2006:prolongation of Q-T interval combined with torsades de pointes and manifests as several different forms; may be acquired or congenital; may lead to serious arrhythmia and sudden cardiac death. | MSH2017_2016_08_12:A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME. | NCI2016_02D:A ventricular arrhythmia characterized by a long QT interval, and accompanied by syncopal episodes sometimes leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated with a prolongation of repolarization following depolarization of the cardiac ventricles. The prolongation of the Q-T interval combined with torsades de pointes manifests as several different forms; some may be acquired or congenital; some may lead to serious arrhythmia and sudden cardiac death. | NCI2016_CDISC_1602D:Long QT Syndrome includes prolongation of the corrected QT interval beyond 440 ms for adult males, 460 ms for adult females and 50 ms in the presence of ventricular depolarization abnormalities (i.e., bundle branch blocks or IVCB more than 120 ms. A normal QT interval in a resting ECG with a failure to shorten with an increase in heart rate qualifies as Long QT Syndrome. | NCI2016_NICHD_1602D:A syndrome characterized by a propensity to develop life-threatening arrhythmias usually in the context of a prolonged corrected QT interval. ICD10CM_2017:I45.81|ICD9CM_2014:426.82|MSH2017_2016_08_12:D008133|OMIM2016_04_17:MTHU039019|SNOMEDCT_US_2016_09_01:395649008|SNOMEDCT_US_2016_09_01:9651007 C1532604 Diabetic retinopathy proliferative right eye, stable treated O/E - right eye stable treated proliferative diabetic retinopathy | O/E - right eye stable treated proliferative diabetic retinopathy (context-dependent category) | O/E - right eye stable treated proliferative diabetic retinopathy (disorder) | On examination - right eye stable treated proliferative diabetic retinopathy | On examination - right eye stable treated proliferative diabetic retinopathy (disorder) | diabetic retinopathy proliferative right eye, stable treated | stable treated proliferative diabetic retinopathy of right eye | stable treated proliferative diabetic retinopathy of right eye (diagnosis) SNOMEDCT_US_2016_09_01:414910007 C0155477 Tympanosclerosis involving other combination of structures Tympanosclerosis involving other combination of structures | Tympanosclerosis involving other combination of structures (disorder) | Tympanosclerosis involving other combination of structures -RETIRED- ICD9CM_2014:385.09|SNOMEDCT_US_2016_09_01:111540000 C0156147 Crohn's disease of large bowel (Crohn's colitis) or (Crohn's disease of the large bowel NOS) | (Crohn's colitis) or (Crohn's disease of the large bowel NOS) (disorder) | CC - Crohn's colitis | CROHN'S DISEASE OF THE COLON | CROHNS DISEASE OF COLON | Colitis, Granulomatous | Colitis, granulomatous | Colonic Crohn's disease | Crohn Colitis | Crohn disease of colon | Crohn disease of large bowel | Crohn's Colitis | Crohn's colitis | Crohn's colitis (diagnosis) | Crohn's dis. large bowel NOS | Crohn's disease (colon) | Crohn's disease [regional enteritis] of colon | Crohn's disease of colon | Crohn's disease of colon (diagnosis) | Crohn's disease of colon (disorder) | Crohn's disease of large bowel | Crohn's disease of large bowel (disorder) | Crohn's disease of large intestine | Crohn's disease of the large bowel NOS | Crohn's disease of the large bowel NOS (disorder) | Crohn; large intestine | Crohns disease, colon | Crohns disease, large intestine | GC - Granulomatous colitis | GRANULOMATOUS COLITIS | Granulomatous Colitis | Granulomatous colitis | Granulomatous colitis (disorder) | Regional colitis | Regional enteritis of large intestine | Regional enteritis of the large bowel | Regional enteritis of the large bowel (disorder) | Regional enteritis-large bowel | colitis (granulomatous) | colitis; granulomatous | colitis; regional | colon crohn disease | colon crohn's disease | crohn disease colon | crohn's colitis | crohn's colon disease | crohn's disease colon | crohn's disease of large intestine (diagnosis) | granulomatous colitis | granulomatous; colitis | large intestine; Crohn | large intestine; regional enteritis | regional enteritis; large intestine | regional; colitis ICD10CM_2017:K50.1|ICD9CM_2014:555.1|MSH2017_2016_08_12:D003424|OMIM2016_04_17:MTHU037235|SNOMEDCT_US_2016_09_01:155762006|SNOMEDCT_US_2016_09_01:196981009|SNOMEDCT_US_2016_09_01:196982002|SNOMEDCT_US_2016_09_01:266446008|SNOMEDCT_US_2016_09_01:50440006|SNOMEDCT_US_2016_09_01:7620006 C0282507 Heat stress disorders Disorder, Heat Stress | Disorders, Heat Stress | Heat Stress Disorder | Heat Stress Disorders | Heat Stress Disorders [Disease/Finding] | Heat Stress Syndrome | Heat Stress Syndromes | Stress Disorder, Heat | Stress Disorders, Heat | Stress Syndrome, Heat | Stress Syndromes, Heat | Syndrome, Heat Stress | Syndromes, Heat Stress | heat stress MSH2017_2016_08_12:A group of conditions that develop due to overexposure or overexertion in excessive environmental heat. MSH2017_2016_08_12:D018882 C0155686 Acute myocarditis Acute Myocarditis | Acute myocarditis | Acute myocarditis (disorder) | Acute myocarditis NOS | Acute myocarditis NOS (disorder) | Acute myocarditis, NOS | Acute myocarditis, unspecified | Acute myocarditis, unspecified (disorder) | Acute myocarditis,unspcfd | Myocarditis;acute | [X]Acute myocarditis, unspecified | [X]Acute myocarditis, unspecified (disorder) | [X]Acute myocarditis,unspcfd | acute myocarditis | acute myocarditis (diagnosis) | acute; myocarditis | myocarditis acute NCI2016_02D:The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness. ICD10CM_2017:I40|ICD10CM_2017:I40.9|ICD9CM_2014:422|ICD9CM_2014:422.90|SNOMEDCT_US_2016_09_01:155336004|SNOMEDCT_US_2016_09_01:194953001|SNOMEDCT_US_2016_09_01:194961006|SNOMEDCT_US_2016_09_01:195569005|SNOMEDCT_US_2016_09_01:46701001 C1855861 Glycogen storage disease 0, liver GLYCOGEN STORAGE DISEASE 0, LIVER | GSD 0a | GSD0A | Glycogen Storage Disease 0, Liver | HYPOGLYCEMIA WITH DEFICIENCY OF GLYCOGEN SYNTHETASE IN THE LIVER | Hypoglycemia With Deficiency Of Glycogen Synthetase In The Liver | LIVER GLYCOGEN STORAGE DISEASE 0 | LIVER GLYCOGEN SYNTHASE DEFICIENCY | Liver Glycogen Storage Disease 0 | Liver Glycogen Synthase Deficiency MSH2017_2016_08_12:C565485|OMIM2016_04_17:138571|OMIM2016_04_17:240600 C1833798 Optic nerve aplasia, bilateral OPTIC NERVE APLASIA, BILATERAL | Optic Nerve Aplasia, Bilateral MSH2017_2016_08_12:C563493|OMIM2016_04_17:165550|OMIM2016_04_17:607108 C0151686 Growth retardation Decreased growth | Decreased growth, NOS | GROWTH RETARDATION | GROWTH RETARDED | Growth Retardation | Growth retardation | Growth retardation (disorder) | Growth retardation (morphologic abnormality) | Growth retardation, NOS | Growth retarded | Growth suppression | Growth suppression, NOS | Retardation;growth | Retarded growth | growth retardation | growth suppression | growth; retardation | retardation; growth | retarded growth AIR93:Growth retardation: Decreased rate of growth in the individual or in an affected joint or extremity. An example of the latter is micrognathia in Juvenile Rheumatoid Arthritis. | NCI2016_02D:Stature that is smaller than normal as expected for age. | NCI2016_CTCAE_1602D:A disorder characterized by of stature that is smaller than normal as expected for age. HPO2016_07_04:HP:0001510|OMIM2016_04_17:MTHU000166|OMIM2016_04_17:MTHU008087|SNOMEDCT_US_2016_09_01:444896005|SNOMEDCT_US_2016_09_01:59576002 C2212024 Ovarian endometrioid adenofibroma Ovarian Endometrioid Adenofibroma | endometrioid adenofibroma of ovary | endometrioid adenofibroma of ovary (diagnosis) NCI2016_02D:A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma. C0265989 Congenital scar Congenital scar | Congenital scar (disorder) | Congenital scars | congenital scar | congenital scar (diagnosis) HPO2016_07_04:HP:0001057|SNOMEDCT_US_2016_09_01:205579005|SNOMEDCT_US_2016_09_01:74223008 C0403529 Anti-glomerular basement membrane disease Anti GBM - Antiglomerular basement membrane disease | Anti GBM Disease | Anti Glomerular Basement Membrane Disease | Anti-GBM Disease | Anti-GBM nephritis with pulmonary haemorrhage | Anti-GBM nephritis with pulmonary hemorrhage | Anti-GMB disease | Anti-Glomerular Basement Membrane Disease | Anti-Glomerular Basement Membrane Disease [Disease/Finding] | Anti-glomerular basement membrane antibody glomerulonephritis syndrome | Antiglomerular basement membrane disease | GOODPASTURE SYNDROME | GOODPASTURE'S SYNDROME | Goodpasture | Goodpasture Syndrome | Goodpasture disease | Goodpasture syndrome | Goodpasture's Syndrome | Goodpasture's disease | Goodpasture's disease (disorder) | Goodpasture's syndrome | Goodpasture's syndrome (diagnosis) | Goodpasture's syndrome (disorder) | Goodpastures Syndrome | Haemorrhagic pneumonia AND glomerulonephritis | Haemorrhagic pneumonia and glomerulonephritis | Hemorrhagic pneumonia AND glomerulonephritis | Hemorrhagic pneumonia and glomerulonephritis | Lung Purpura with Glomerulonephritis | Lung Purpura with Nephritis | Lung purpura with nephritis syndrome | PNEUMORENAL SYNDROME | Pulmonary haemorrhage with glomerulonephritis | Pulmonary haemosiderosis with glomerulonephritis | Pulmonary hemorrhage with glomerulonephritis | Pulmonary hemosiderosis with glomerulonephritis | Pulmonary-renal syndrome | SYNDROME GOOD PASTURE | SYNDROME GOOD POSTURES | Syndrome Good pasture | Syndrome Good postures | Syndrome Goodpasture's | Syndrome, Goodpasture | Syndrome, Goodpasture's | anti gbm disease | good pasture syndrome | good pastures syndrome | good posture syndrome | goodpasture syndrome | goodpasture's disease | goodpasture's syndrome | goodpastures syndrome | goodpastures's syndrome | lung purpura with nephritis | pneumorenal syndrome | pulmonary renal syndromes | pulmonary; renal syndrome (Goodpasture) | syndrome; pulmonary-renal (Goodpasture) CSP2006:combination of pulmonary hemorrhage and glomerulonephritis; known also as the lung purpura glomerulonephritis complex; considered by some to be a form of hypersensitivity reaction. | MSH2017_2016_08_12:An autoimmune disease of the KIDNEY and the LUNG. It is characterized by the presence of circulating autoantibodies targeting the epitopes in the non-collagenous domains of COLLAGEN TYPE IV in the basement membranes of kidney glomeruli (KIDNEY GLOMERULUS) and lung alveoli (PULMONARY ALVEOLI), and the subsequent destruction of these basement membranes. Clinical features include pulmonary alveolar hemorrhage and glomerulonephritis. | NCI2016_02D:An autoimmune disorder characterized by pulmonary hemorrhage and glomerulonephritis. It is a hypersensitivity reaction resulting in the formation of antibodies against the pulmonary alveoli and the basement membrane of the glomeruli. | NCI2016_02D:An autoimmune disorder characterized by the production of autoantibodies against type IV collagen of the glomerular basement membrane of the kidney. In the majority of patients the immune reaction also extends to the alveolar capillary membrane of the lungs. The latter cases are referred to as Goodpasture Syndrome. ICD10CM_2017:M31.0|ICD9CM_2014:446.21|MSH2017_2016_08_12:D019867|OMIM2016_04_17:233450|SNOMEDCT_US_2016_09_01:155445002|SNOMEDCT_US_2016_09_01:195351002|SNOMEDCT_US_2016_09_01:236506009|SNOMEDCT_US_2016_09_01:266323005|SNOMEDCT_US_2016_09_01:50581000 C3810214 Elongated superior cerebellar peduncles Elongated superior cerebellar peduncle | Elongated superior cerebellar peduncles HPO2016_07_04:Increased length of the superior cerebellar peduncle. [HPO:probinson] HPO2016_07_04:HP:0011933|OMIM2016_04_17:MTHU044874 C2236802 Nonepileptic seizures nonepileptic seizures | nonepileptic seizures (diagnosis) C2673195 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS | Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures | Autosomal dominant familial haematuria, retinal arteriolar tortuosity, contractures | Autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures | HANAC | HANAC - hereditary angiopathy with nephropathy, aneurysms, and muscle cramps | HANAC syndrome | Hanac | Hanac Syndrome | Hereditary Angiopathy with Nephropathy, Aneurysm, and Muscle Cramps Syndrome | Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps Syndrome | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome (disorder) MSH2017_2016_08_12:C567088|OMIM2016_04_17:120130|OMIM2016_04_17:611773|SNOMEDCT_US_2016_09_01:702428000 C1334956 Neuroepithelial, perineurial, and schwann cell neoplasm Neural Neoplasm | Neural Tumor | Neuroepithelial, Perineurial, and Schwann Cell Neoplasm NCI2016_02D:A morphologic category that includes neoplasms arising from cells that form and support the nervous system. Such neoplasms include neuroepithelial cell neoplasms and neoplasms that arise from the perineural sheaths (perineurial cell neoplasms and Schwann cell neoplasms). --2003 C3551430 Sparse or absent eyebrows Eyebrows sparse or absent | Sparse or absent eyebrows HPO2016_07_04:HP:0100840|OMIM2016_04_17:MTHU038564|OMIM2016_04_17:MTHU046824 C0005940 Bone diseases BONE DISORDER | BONE DISORDER (NOS) | Bone Disease | Bone Diseases | Bone Diseases [Disease/Finding] | Bone Disorders | Bone disease | Bone disease, NOS | Bone disorder | Bone disorder (NOS) | Bone disorder NOS | Bone disorderes NOS | Bone disorders NOS | Bones--Diseases | DISEASES OF THE BONES | DISORDER BONE (NOS) | Disease of bone | Disease of bone (disorder) | Disease of bone, NOS | Disease, Bone | Disease;bone | Diseases of Bones | Diseases, Bone | Disorder bone (NOS) | Disorder of bone | Disorder of bone (disorder) | Disorder of bone, unspecified | Disorder of bone, unspecified (disorder) | OSTEOPATHY | Osteopathia | Osteopathia, NOS | Osteopathy | Osteopathy NOS | Osteopathy NOS (disorder) | Unspecified disorder of bone | bone disease | bone diseases | bone disorder | bone disorder (diagnosis) | bone disorders | bone; disorder | bones disease | bones diseases | bones disorders | disease (or disorder); bone | disease of bone | diseases of the bones | osteopathy | the diseases of bones CSP2006:condition in which there is a deviation from or interruption of the normal structure or function of the bones. | MEDLINEPLUS_20151021:Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D and exercise.
There are many kinds of bone problems:
| MSH2017_2016_08_12:Diseases of BONES. ICD10CM_2017:M89.9|MSH2017_2016_08_12:D001847|SNOMEDCT_US_2016_09_01:156814002|SNOMEDCT_US_2016_09_01:203524000|SNOMEDCT_US_2016_09_01:268126004|SNOMEDCT_US_2016_09_01:274145000|SNOMEDCT_US_2016_09_01:308147009|SNOMEDCT_US_2016_09_01:76069003 C0220704 Shprintzen syndrome 22q11 microdeletion with velocardiofacial syndrome phenotype | 22q11.2 Deletion Syndrome | 22q11.2 deletion syndrome (VCFS) | 22q11.2 deletion syndrome (VCFS) (diagnosis) | 22q11.2DS | CHROMOSOME 22q11.2 DELETION SYNDROME | Chromosome 22q11.2 deletion syndrome | Deletion 22q11.2 Syndrome | Deletion 22q11.2 syndrome | Deletion Syndrome, 22q11.2 | SHPRINTZEN VCF SYNDROME | Sedlackova Syndrome | Sedlackova syndrome | Shprintzen Syndrome | Shprintzen VCF Syndrome | Shprintzen syndrome | Shprintzen syndrome (disorder) | Syndrome, Sedlackova | Syndrome, Shprintzen | Syndrome, VCF | Syndrome, Velo-Cardio-Facial | Syndrome, Velocardiofacial | VCF SYNDROME | VCF Syndrome | VCF-Velocardiofacial syndrome | VCFS | VELOCARDIOFACIAL SYNDROME | Velo Cardio Facial Syndrome | Velo-Cardio-Facial Syndrome | Velo-cardio-facial syndrome | Velocardiofacial Syndrome | Velocardiofacial syndrome | shprintzen syndrome | shprintzens syndrome | syndromes velocardiofacial | velo-cardio-facial syndrome | velocardiofacial syndrome | velocardiofacial syndrome (VCF, VCFS) | velofacial hypoplasia CSP2006:caused by microdeletion on chromosome 22q11.2; associated with multiple congenital anomalies, learning disabilities, behavioral phenotypes including ADHD and anxiety, with schizophrenic risk in adulthood. | JABL99:Typical facies with a prominent nose and retruded mandible, cleft palate, cardiovascular defects, learning disability, retarded mental development, and short stature. Elements of this syndrome are frequently present in the Robin syndrome. ICD10CM_2017:Q93.81|ICD9CM_2014:758.32|MSH2017_2016_08_12:D004062|OMIM2016_04_17:192430|OMIM2016_04_17:602054|SNOMEDCT_US_2016_09_01:205642004|SNOMEDCT_US_2016_09_01:83092002 C0149877 Hypoglycemic encephalopathy ENCEPHALOPATHY, HYPOGLYCEMIC | Encephalopathy, hypoglycemic | Hypoglycaemic encephalopathy | Hypoglycemic encephalopathy | Hypoglycemic encephalopathy (disorder) HPO2016_07_04:Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage. [HPO:probinson] HPO2016_07_04:HP:0006929|OMIM2016_04_17:MTHU012735|SNOMEDCT_US_2016_09_01:64624009 C0221766 Diastasis recti Abdominal diastasis | DIASTASIS RECTI | Diastasis recti | Diastasis recti (disorder) | Diastasis recti abdominis | Diastasis recti abdominis (disorder) | Diastatsis recti | Diastatsis recti of abdomen | Divarication of recti | Divarification of recti | abdomen diastasis recti | diastasis recti | diastasis recti (physical finding) | diastasis recti abdominis | divarication recti | recti diastasis | the abdomen demonstrated diastasis recti HPO2016_07_04:A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). [HPO:probinson] HPO2016_07_04:HP:0001540|OMIM2016_04_17:MTHU006863|SNOMEDCT_US_2016_09_01:249536004|SNOMEDCT_US_2016_09_01:62629000 C0263375 Lichen, ruber moniliforme Lichen ruber moniliformis | Lichen ruber moniliformis (disorder) | Lichen, ruber moniliforme | lichen; planus, moniliformis | lichen; ruber moniliformis | moniliformis; lichen ruber moniliformis | ruber; lichen ruber moniliformis ICD10CM_2017:L44.3|SNOMEDCT_US_2016_09_01:3358001 C3539195 Tremor, hereditary essential, 4 ETM4 | TREMOR, HEREDITARY ESSENTIAL, 4 OMIM2016_04_17:137070|OMIM2016_04_17:614782 C2919052 Alcohol or other drugs dependence AOD dependence | AOD dependency | Alcohol or Other Drugs dependence | Alcohol or Other Drugs dependency | Alcohol or other drugs dependence | alcohol or other drug dependence C0405582 Congenital absence of testes Absence and aplasia of testis | Absent testicle (congenital) | Absent testicle (congenital) (disorder) | Agenesis of testis | Congenital absence of testes | Congenital absence of testis | Congenital absence of testis (disorder) | Testicular agenesis | absence and aplasia of testis | absence and aplasia of testis (diagnosis) | agenesis; testicle | congenital malformations of male genital organs absence and aplasia of testis | testicle; agenesis ICD10CM_2017:Q55.0|MSH2017_2016_08_12:C537770|SNOMEDCT_US_2016_09_01:156969000|SNOMEDCT_US_2016_09_01:274151005|SNOMEDCT_US_2016_09_01:7570002 C0338489 Status migrainus Status Migrainosus | Status Migranosus | Status migrainosus | Status migrainosus (disorder) | Status migrainosus NOS | Status migrainus | migraine; status | migrainosus; status | status migrainosus | status migrainosus (diagnosis) | status migrainus | status; migraine | status; migrainosus NCI2016_02D:An episode of migraine that persists for more than 72 hours. | NCI2016_NICHD_1602D:An episode of migraine that persists for more than 72 hours. ICD10CM_2017:G43.901|MSH2017_2016_08_12:D008881|SNOMEDCT_US_2016_09_01:193038003|SNOMEDCT_US_2016_09_01:230467008 C0014588 Urethral meatus, dorsal (Epispadias) or (anaspadias) | (Epispadias) or (anaspadias) (disorder) | Anaspadias | EPISPADIAS | Epispadia | Epispadias | Epispadias (disorder) | Epispadias [Disease/Finding] | URETHRAL MEATUS, DORSAL | epispadia | epispadias MSH2017_2016_08_12:A birth defect due to malformation of the URETHRA in which the urethral opening is above its normal location. In the male, the malformed urethra generally opens on the top or the side of the PENIS, but the urethra can also be open the entire length of the penis. In the female, the malformed urethral opening is often between the CLITORIS and the labia, or in the ABDOMEN. | NCI2016_02D:A rare congenital abnormality that mostly affects males. In males, it is characterized by the presence of the urethral opening in the dorsal surface of the penis. In females, this abnormality is even rarer and is characterized by the presence of an elongated urethra that has developed too far anteriorly. | NCI2016_NICHD_1602D:A congenital condition in which the urethra fails to develop properly, and the opening of the urethra is located on the dorsum of the penis. ICD10CM_2017:Q64.0|MSH2017_2016_08_12:D004842|SNOMEDCT_US_2016_09_01:156968008|SNOMEDCT_US_2016_09_01:18364005|SNOMEDCT_US_2016_09_01:204887005|SNOMEDCT_US_2016_09_01:204893002|SNOMEDCT_US_2016_09_01:268327004|SNOMEDCT_US_2016_09_01:406476007|SNOMEDCT_US_2016_09_01:408675006 C0152069 Echinococcus multilocularis infection Alveolar hydatid | Alveolar hydatid disease | Echinococcus multilocularis infection | Echinococcus multilocularis infection (disorder) | Echinococcus multilocularis infection, other and multiple sites | Echinococcus multilocularis infection, unspecified | Echinococcus; multilocularis | Multilocular hydatid | Multilocular hydatid (disorder) | echinococcus multilocularis | echinococcus multilocularis (diagnosis) | multilocularis; Echinococcus ICD10CM_2017:B67.6|ICD10CM_2017:B67.7|ICD9CM_2014:122.7|SNOMEDCT_US_2016_09_01:21009004|SNOMEDCT_US_2016_09_01:240816000 C0344044 Ascaris peritoneal granuloma Ascaris peritoneal granuloma | Ascaris peritoneal granuloma (disorder) SNOMEDCT_US_2016_09_01:240865005 C0034220 Pyosalpinx PYOSALPINX | Pyosalpingitis | Pyosalpingitis (disorder) | Pyosalpinx | Pyosalpinx (disorder) | pyosalpingitis | pyosalpinx | pyosalpinx (diagnosis) NCI2016_02D:The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain. SNOMEDCT_US_2016_09_01:155974004|SNOMEDCT_US_2016_09_01:266651008|SNOMEDCT_US_2016_09_01:35263009|SNOMEDCT_US_2016_09_01:397810006|SNOMEDCT_US_2016_09_01:9400007 C2745963 Kashin-beck disease Disease, Kashin-Beck | Kaschin - Beck disease | Kaschin-Beck | Kaschin-Beck dis.-site unspec. | Kaschin-Beck disease | Kaschin-Beck disease (diagnosis) | Kaschin-Beck disease (disorder) | Kaschin-Beck disease (endemic polyarthritis) | Kaschin-Beck disease NOS | Kaschin-Beck disease NOS (disorder) | Kaschin-Beck disease of unspecified site | Kaschin-Beck disease of unspecified site (disorder) | Kaschin-Beck disease, site unspecified | Kaschin-Beck disease, unspecified site | Kaschin-Bek disease | Kascin-Beck disease of unspecified site | Kashin Beck Disease | Kashin-Beck Disease | Kashin-Beck Disease [Disease/Finding] | Kashin-Beck disease | Kashin-Beck disease (disorder) | Kashin-Beck disease NOS | Kashin-Beck disease NOS (disorder) | Kashin-Beck disease of unspecified site | Kashin-Beck disease of unspecified site (disorder) | Kashin-Bek disease | Kashin-Bek disease (disorder) | Kashin-Bek disease [Ambiguous] | Osteoarthritis deformans | Osteoarthrosis deformans | Urov disease MSH2017_2016_08_12:Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology. ICD10CM_2017:M12.1|ICD10CM_2017:M12.10|ICD9CM_2014:716.0|ICD9CM_2014:716.00|MSH2017_2016_08_12:D057767|SNOMEDCT_US_2016_09_01:201919004|SNOMEDCT_US_2016_09_01:201920005|SNOMEDCT_US_2016_09_01:201930001|SNOMEDCT_US_2016_09_01:270505009|SNOMEDCT_US_2016_09_01:37440001 C1522137 Hypertriglyceridemia result High Triglycerides | Hypertriglyceridemia | Hypertriglyceridemia result | Increased plasma triglycerides | Increased serum triglycerides | Increased triglycerides HPO2016_07_04:An abnormal increase in the level of triglycerides in the blood. [HPO:probinson] | NCI2016_02D:A laboratory test result indicating elevated triglyceride concentration in the blood. | NCI2016_CTCAE_1602D:A disorder characterized by laboratory test results that indicate an elevation in the concentration of triglyceride concentration in the blood. | NCI2016_NICHD_1602D:Abnormally high level of triglycerides in the blood. HPO2016_07_04:HP:0002155|OMIM2016_04_17:MTHU002090|OMIM2016_04_17:MTHU003051 C0266604 Congenital aplasia of inner ear Absent inner ear | Aplasia of the inner ear | Aplasia of the labyrinth | Congenital aplasia of inner ear | Congenital aplasia of inner ear (disorder) | Labyrinthine aplasia | Michel deformity | absence; inner ear | aplasia; labyrinth | inner ear; absent | labyrinth; aplasia HPO2016_07_04:Absence of the inner ear due to a developmental defect. [DDD:dfitzpatrick] HPO2016_07_04:HP:0011372|OMIM2016_04_17:MTHU021875|SNOMEDCT_US_2016_09_01:71973003 C0039131 Syphilis congenital Congenit syphilis, unspecfd | Congenital Syphilis | Congenital Treponema pallidum infection | Congenital syphilis | Congenital syphilis (disorder) | Congenital syphilis NOS | Congenital syphilis NOS (disorder) | Congenital syphilis, NOS | Congenital syphilis, unspecified | SYPHILIS CONGENITAL | Syphilis, Congenital | Syphilis, Congenital [Disease/Finding] | Syphilis;congenital | Unspecified congenital syphilis | [X]Congenit syphilis, unspecfd | [X]Congenital syphilis, unspecified | [X]Congenital syphilis, unspecified (disorder) | congenital syphilis | congenital syphilis (diagnosis) | congenital; syphilitic | hereditary; syphilitic | syphilis congenital | syphilis; congenital MSH2017_2016_08_12:Syphilis acquired in utero and manifested by any of several characteristic tooth (Hutchinson's teeth) or bone malformations and by active mucocutaneous syphilis at birth or shortly thereafter. Ocular and neurologic changes may also occur. | NCI2016_02D:A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia. ICD10CM_2017:A50|ICD10CM_2017:A50.9|ICD9CM_2014:090|ICD9CM_2014:090.9|MSH2017_2016_08_12:D013590|SNOMEDCT_US_2016_09_01:154380005|SNOMEDCT_US_2016_09_01:186845009|SNOMEDCT_US_2016_09_01:187352005|SNOMEDCT_US_2016_09_01:35742006 C0406468 Loose anagen hair syndrome Anagen Syndrome, Loose | Anagen Syndromes, Loose | LOOSE ANAGEN HAIR SYNDROME | Loose Anagen Hair Syndrome | Loose Anagen Hair Syndrome [Disease/Finding] | Loose Anagen Syndrome | Loose Anagen Syndromes | Loose anagen hair syndrome | Loose anagen hair syndrome (disorder) | Syndrome, Loose Anagen | Syndromes, Loose Anagen MSH2017_2016_08_12:Benign childhood alopecia that improves spontaneously with aging. It is characterized by anagen hairs (misshapen hair bulbs and absent inner and outer root sheaths), thin, and sparse hairs that pulls out easily. MSH2017_2016_08_12:D058247|OMIM2016_04_17:600628|SNOMEDCT_US_2016_09_01:238735005 C1333867 Grade 1 colorectal adenocarcinoma Grade 1 Colorectal Adenocarcinoma | Grade I Colorectal Adenocarcinoma | Low Grade Colorectal Adenocarcinoma | Well Differentiated Colorectal Adenocarcinoma NCI2016_02D:A colorectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with more than 95% glandular formation. C0393517 Cerebellar ataxia in diseases ec Cerebellar ataxia in diseases EC | Cerebellar ataxia in diseases EC (disorder) | Cerebellar ataxia in diseases classified elsewhere | Cerebellar ataxia-disease EC | cerebellar ataxia in diseases classified elsewhere (diagnosis) ICD10CM_2017:G32.81|ICD9CM_2014:334.4|SNOMEDCT_US_2016_09_01:192874000 C0472792 Hemolytic anemia due to hexokinase deficiency Haemolytic anaemia due to hexokinase deficiency | Hemolytic anemia due to hexokinase deficiency | Hemolytic anemia due to hexokinase deficiency (disorder) | Hexokinase defic.haemol.anaem. SNOMEDCT_US_2016_09_01:191177007 C3662088 Paralytic syndrome of both lower limbs Paralytic syndrome of both lower limbs | Paralytic syndrome of both lower limbs (disorder) SNOMEDCT_US_2016_09_01:609553000 C0232208 Rhythm nodal AV NODE RHYTHMS | AV junctional rhythm | AV junctional rhythm (disorder) | AV node rhythm | AV node rhythm (disorder) | Atrioventricular junctional rhythm | Atrioventricular junctional rhythm (disorder) | JUNCTIONAL RHYTHM | Junctional Rhythm | Junctional Rhythm by ECG Finding | Junctional Rhythm by EKG Finding | Junctional rhythm | Nodal rhythm | RHYTHM NODAL | Rhythm nodal | atrioventricular junctional rhythm (diagnosis) | junctional rhythm | junctional rhythms | nodal rhythm | nodal; rhythm | rhythm; nodal NCI2016_02D:An electrocardiographic finding of a rhythm which originates in the AV junction and results in a normal heart rate. It is characterized by retrograde P waves which may be obscured by or may follow the QRS complexes. The QRS complexes may be narrow or may demonstrate aberration. (CDISC) | NCI2016_CDISC_1602D:An electrocardiographic finding of a rhythm which originates in the AV junction and results in a normal heart rate. It is characterized by retrograde P waves which may be obscured by or may follow the QRS complexes. The QRS complexes may be narrow or may demonstrate aberration. SNOMEDCT_US_2016_09_01:106069006|SNOMEDCT_US_2016_09_01:11849007 C3151226 Immunodeficiency due to ficolin 3 deficiency FCN3 DEFICIENCY | FICOLIN 3 DEFICIENCY | IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY OMIM2016_04_17:604973|OMIM2016_04_17:613860 C0206713 Papilloma, intraductal Duct Adenoma | Duct adenoma | Duct adenoma, NOS | Ductal Papilloma | Ductal papilloma | Intraductal Papilloma | Intraductal Papillomas | Intraductal papilloma | Intraductal papilloma (morphologic abnormality) | Papilloma, Intraductal | Papilloma, Intraductal [Disease/Finding] | Papillomas, Intraductal | duct adenoma | ductal papilloma | ductal papillomas | intraductal papilloma | intraductal papillomas | papilloma intraductal MSH2017_2016_08_12:A small, often impalpable benign papilloma arising in a lactiferous duct and frequently causing bleeding from the nipple. (Stedman, 25th ed) | NCI2016_02D:An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma. | NCI2016_NCI-GLOSS_1602D:A benign (not cancer), wart-like growth in a milk duct of the breast. It is usually found close to the nipple and may cause a discharge from the nipple. It may also cause pain and a lump in the breast that can be felt. It usually affects women aged 35-55 years. Having a single papilloma does not increase the risk of breast cancer. When there are multiple intraductal papillomas, they are usually found farther from the nipple. There may not be a nipple discharge and the papillomas may not be felt. Having multiple intraductal papillomas may increase the risk of breast cancer. MSH2017_2016_08_12:D018300|SNOMEDCT_US_2016_09_01:5244003 C4021642 Abnormality of the achilles tendon Abnormality of the Achilles tendon | Abnormality of the calcaneal tendon HPO2016_07_04:An abnormality of the Achilles tendon. [HPO:probinson] HPO2016_07_04:HP:0005109 C0265336 Senter syndrome KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT | KID SYNDROME, AUTOSOMAL DOMINANT | KID syndrome | KIDS - Keratitis ichthyosis and deafness syndrome | Keratitis ichthyosis and deafness syndrome | Keratitis, Ichthyosis, and Deafness (KID) Syndrome | Keratitis-ichthyosis-deafness syndrome, autosomal dominant | Keratosis-ichthyosis-deafness syndrome | Kid Syndrome, Autosomal Dominant | Senter syndrome | Senter syndrome (disorder) | keratitis-ichthyosis-deafness (KID) syndrome | keratitis-ichthyosis-deafness syndrome | kid syndrome | kids syndrome | syndrome kid JABL99:OMIM differentiates the autosomal dominant (KID syndrome) from MSH2017_2016_08_12:C536168|OMIM2016_04_17:121011|OMIM2016_04_17:148210|SNOMEDCT_US_2016_09_01:2625009 C3537440 Cystinosis, infantile nephropathic CYSTINOSIS, INFANTILE NEPHROPATHIC | Cystinosis, Infantile Nephropathic | Infantile nephropathic cystinosis | Infantile nephropathic cystinosis (disorder) | Infantile nephropathic cystinosis [Ambiguous] MSH2017_2016_08_12:C565655|OMIM2016_04_17:219800|SNOMEDCT_US_2016_09_01:267415003|SNOMEDCT_US_2016_09_01:62332007 C0476403 Electromyogram abnormal Abnormal EMG | Abnormal electromyogram [EMG] | Abnormal electromyography finding | EMG ABNORMAL | EMG abnormal | EMG abnormalities | EMG abnormality | Electromyogram (EMG) abnorm | Electromyogram (EMG) abnormal | Electromyogram (EMG) abnormal (finding) | Electromyogram abnormal | Electromyogram abnormal (finding) | Electromyography abnormal | Nonspecific abnormal EMG | Nonspecific abnormal electromyogram | Nonspecific abnormal electromyogram (EMG) | Nonspecific abnormal electromyogram [EMG] | [D]Electromyogram (EMG) abnorm | [D]Electromyogram (EMG) abnormal | [D]Electromyogram (EMG) abnormal (context-dependent category) | [D]Electromyogram (EMG) abnormal (situation) | abnormal EMG | abnormal electromyogram | abnormal electromyogram (EMG) | abnormal electromyogram (diagnosis) | abnormal emg | abnormal; electromyogram | electromyogram; abnormal | emg abnormal HPO2016_07_04:Abnormal results of investigations using electromyography (EMG). [HPO:probinson, pmid:18751841] HPO2016_07_04:HP:0003457|ICD10CM_2017:R94.131|ICD9CM_2014:794.17|OMIM2016_04_17:MTHU010409|SNOMEDCT_US_2016_09_01:158640000|SNOMEDCT_US_2016_09_01:207450004|SNOMEDCT_US_2016_09_01:274523007 C3887662 Intraspinal neoplasm Intraspinal Neoplasm | Intraspinal Neoplasms | Intraspinal Tumor | Neoplasm of Spinal Canal and Spinal Cord | Neoplasm of the Spinal Canal and Spinal Cord | Neoplasms of Spinal Canal and Spinal Cord | Neoplasms of the Spinal Canal and Spinal Cord | Spinal Canal Tumors | Spinal Canal and Spinal Cord Neoplasm | Spinal Canal and Spinal Cord Tumor | Spinal Neoplasms | Spinal Tumors | Tumor of Spinal Canal and Spinal Cord | Tumor of the Spinal Canal and Spinal Cord | neoplasm spinal | spinal neoplasms NCI2016_02D:A primary or metastatic neoplasm that occurs within the spinal canal including the spinal cord and surrounding paraspinal spaces. C3150986 Epileptic encephalopathy, early infantile, 7 EIEE7 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 OMIM2016_04_17:602235|OMIM2016_04_17:613720 C0457567 Disorder of body wall and cavities Disorder of body wall and cavities | Disorder of body wall and cavities (disorder) | Disorder of body wall and cavities (navigational concept) SNOMEDCT_US_2016_09_01:278441008 C3266026 Autoimmune polyendocrine syndrome type 4 Autoimmune polyendocrine syndrome type 4 | Autoimmune polyendocrine syndrome type 4 (disorder) SNOMEDCT_US_2016_09_01:449730005 C0010823 Cytomegalovirus infections CMV | CMV - Cytomegalovirus infection | CMV INFECTION | CMV Infection | CMV Infections | CMV infection | CYTOMEGALIC INCLUSION DISEASE | CYTOMEGALOVIRUS INFECTION | CYTOMEGALUS VIRUS INFECTION | Cytomagalovirus infection | Cytomegalic Inclusion Disease | Cytomegalic Inclusion Diseases | Cytomegalic inclusion disease | Cytomegaloviral Infection | Cytomegaloviral dis,unspec | Cytomegaloviral disease | Cytomegaloviral disease, unspecified | Cytomegaloviral infections | Cytomegalovirus | Cytomegalovirus Infection | Cytomegalovirus Infections | Cytomegalovirus Infections [Disease/Finding] | Cytomegalovirus disease | Cytomegalovirus infection | Cytomegalovirus infection (disorder) | Cytomegalovirus infection, NOS | Cytomegalovirus infections | Cytomegalus virus infection | Disease due to Cytomegalovirus | Disease, Cytomegalic Inclusion | Diseases, Cytomegalic Inclusion | HCMV Infection | Inclusion Disease | Inclusion Disease, Cytomegalic | Inclusion Diseases | Inclusion Diseases, Cytomegalic | Infection, Cytomegalovirus | Infections, Cytomegalovirus | Salivary Gland Virus Disease | Salivary gland virus disease | [X]Cytomegaloviral dis,unspec | [X]Cytomegaloviral disease, unspecified | [X]Cytomegaloviral disease, unspecified (disorder) | cmv cytomegalovirus infection | cmv infection | cmv infections | cytomegalic inclusion disease | cytomegaloviral disease | cytomegaloviral infection | cytomegaloviral infections | cytomegalovirus | cytomegalovirus disease | cytomegalovirus disease (diagnosis) | cytomegalovirus infection | cytomegalovirus infections | disease (or disorder); inclusion disease (cytomegaloviral) | disease (or disorder); inclusion disease, salivary gland | inclusion disease | inclusion disease; salivary gland | salivary gland; inclusion disease MEDLINEPLUS_20151021:
Cytomegalovirus (CMV) is a virus found around the world. It is related to the viruses that cause chickenpox and infectious mononucleosis (mono). Between 50 percent and 80 percent of adults in the United States have had a CMV infection by age 40. Once CMV is in a person's body, it stays there for life.
CMV is spread through close contact with body fluids. Most people with CMV don't get sick and don't know that they've been infected. But infection with the virus can be serious in babies and people with weak immune systems. If a woman gets CMV when she is pregnant, she can pass it on to her baby. Usually the babies do not have health problems. But some babies can develop lifelong disabilities.
A blood test can tell whether a person has ever been infected with CMV. Most people with CMV don't need treatment. If you have a weakened immune system, your doctor may prescribe antiviral medicine. Good hygiene, including proper hand washing, may help prevent infections.
Centers for Disease Control and Prevention
| MSH2017_2016_08_12:Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults. | NCI2016_02D:A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies. ICD10CM_2017:B25|ICD10CM_2017:B25.9|ICD9CM_2014:078.5|MSH2017_2016_08_12:D003586|SNOMEDCT_US_2016_09_01:154371005|SNOMEDCT_US_2016_09_01:186695007|SNOMEDCT_US_2016_09_01:186699001|SNOMEDCT_US_2016_09_01:187456009|SNOMEDCT_US_2016_09_01:243578002|SNOMEDCT_US_2016_09_01:266203007|SNOMEDCT_US_2016_09_01:28944009 C0031142 Peritoneal diseases DISEASES OF THE PERITONEUM | Disease of peritoneum | Disease of peritoneum (disorder) | Disease of peritoneum, NOS | Diseases of peritoneum | Diseases of the peritoneum | Disorder of peritoneum | Disorder of peritoneum (disorder) | Disorder of peritoneum, unspecified | Peritoneal Disease | Peritoneal Diseases | Peritoneal Diseases [Disease/Finding] | Peritoneal Disorder | Peritoneal Disorders | Peritoneal disorder | Peritoneal disorder NOS | Peritoneal disorders NOS | Peritoneal disorders NOS (disorder) | Peritoneum--Diseases | Unspecified disorder of peritoneum | [X]Diseases of the peritoneum | [X]Diseases of the peritoneum (disorder) | disease (or disorder); peritoneum | disorders of peritoneum | disorders of peritoneum (diagnosis) | disorders peritoneum | peritoneal disease | peritoneal diseases | peritoneal disorder | peritoneum diseases MEDLINEPLUS_20151021:Your peritoneum is the tissue that lines your abdominal wall and covers most of the organs in your abdomen. A liquid, peritoneal fluid, lubricates the surface of this tissue.
Disorders of the peritoneum are not common. They include
Your doctor may use imaging tests or lab tests to analyze the peritoneal fluid to diagnose the problem. Treatment of peritoneal disorders depends on the cause.
| MSH2017_2016_08_12:Pathological processes involving the PERITONEUM. | NCI2016_02D:A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma. ICD10CM_2017:K66.9|ICD9CM_2014:568.9|MSH2017_2016_08_12:D010532|SNOMEDCT_US_2016_09_01:197208003|SNOMEDCT_US_2016_09_01:197547002|SNOMEDCT_US_2016_09_01:66579008 C0263603 Polymorphous light eruption, eczematous type Polymorphous light eruption, eczematous type | Polymorphous light eruption, eczematous type (disorder) SNOMEDCT_US_2016_09_01:84036008 C2367320 Migraine triggered seizures with intractable migraine migraine triggered seizures with intractable migraine | migraine triggered seizures with intractable migraine (diagnosis) C2748535 Hypotrichosis 5 HYPOTRICHOSIS 5 | HYPT5 | Hypotrichosis 5 | MARIE UNNA HEREDITARY HYPOTRICHOSIS 2 | MUHH2 | Marie Unna Hereditary Hypotrichosis 2 MSH2017_2016_08_12:C567554|OMIM2016_04_17:612841 C4025203 Severe t lymphocytopenia Severe T lymphocytopenia HPO2016_07_04:A severe form of T lymphocytopenia in which the count of T cells is very low or absent. [HPO:probinson] HPO2016_07_04:HP:0005379 C0334531 Mesonephric tumor Mesonephric Neoplasm | Mesonephric Tumor | Mesonephric neoplasm | Mesonephric neoplasm (morphologic abnormality) | Mesonephric neoplasm (morphology) | Mesonephric tumor | Mesonephric tumor (morphologic abnormality) | Mesonephric tumour | Mesonephroma | Wolffian Duct Neoplasm | Wolffian Duct Tumor | Wolffian duct tumor | Wolffian duct tumour | [M]Mesonephric tumor | [M]Mesonephric tumor (morphologic abnormality) | [M]Mesonephric tumour | mesonephroma NCI2016_02D:An epithelial neoplasm of the female reproductive system arising from mesonephric remnants. | NCI2016_NCI-GLOSS_1602D:A rare type of tumor, usually of the female genital tract, in which the insides of the cells look clear when viewed under a microscope. SNOMEDCT_US_2016_09_01:127577004|SNOMEDCT_US_2016_09_01:13071008|SNOMEDCT_US_2016_09_01:189859003 C0009952 Febrile convulsions Convulsion febrile | Convulsion, Febrile | Convulsion, Fever | Convulsion, Pyrexial | Convulsions, Febrile | Convulsions, Fever | Convulsions, Pyrexial | Convulsions, febrile | Convulsions;febrile | FEBRILE CONVULSION SEIZURE | FEVER CONVULSIONS | Febrile Convulsion | Febrile Convulsion Seizure | Febrile Convulsion Seizures | Febrile Convulsions | Febrile Fit | Febrile Fits | Febrile Seizure | Febrile Seizures | Febrile convulsion | Febrile convulsion (finding) | Febrile convulsion NOS | Febrile convulsion seizure | Febrile convulsions | Febrile convulsions (finding) | Febrile convulsions (simple), unspecified | Febrile fit | Febrile fits | Febrile seizure | Febrile seizure (from fever) | Febrile seizure NOS | Febrile seizures | Febrile seizures NOS | Fever Convulsion | Fever Convulsions | Fever Seizure | Fever Seizures | Fever convulsions | Fever induced seizures | Fever seizure | Fit, Febrile | Fits, Febrile | Pyrexial Convulsion | Pyrexial Convulsions | Pyrexial Seizure | Pyrexial Seizures | Pyrexial convulsion | Pyrexial fit | Seizure, Febrile | Seizure, Febrile Convulsion | Seizure, Fever | Seizure, Pyrexial | Seizure, febrile | Seizure;febrile | Seizures, Febrile | Seizures, Febrile Convulsion | Seizures, Febrile [Disease/Finding] | Seizures, Fever | Seizures, Pyrexial | Seizures, febrile | Seizures, febrile, in early childhood | Seizures, generalized, associated with fever | [D]Convulsions, febrile | [D]Convulsions, febrile (context-dependent category) | [D]Convulsions, febrile (situation) | [D]Pyrexial convulsion | convulsion febrile | convulsion fever | convulsions febrile seizures | convulsions; febrile | febrile convulsion | febrile convulsion (diagnosis) | febrile convulsions | febrile fit | febrile seizure | febrile seizures | febrile; convulsions | febrile; seizures | fever convulsion | fever convulsions | fever seizure | fever seizures | fevers seizures | seizure febrile | seizure fever | seizure; febrile | seizures fever CSP2006:seizures that occur during a fever; a common condition, affecting 2-5% of children aged 3 months to five years; majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes); complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. | HPO2016_07_04:Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two. [HPO:curators] | MSH2017_2016_08_12:Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784) | NCI2016_02D:A seizure occurring in infants and young children that occurs in the setting of fever. | NCI2016_NICHD_1602D:A seizure occurring in infants and young children that occurs in the setting of fever. HPO2016_07_04:HP:0002373|ICD10CM_2017:R56.0|ICD10CM_2017:R56.00|ICD9CM_2014:780.31|MSH2017_2016_08_12:D003294|OMIM2016_04_17:MTHU000462|OMIM2016_04_17:MTHU000839|OMIM2016_04_17:MTHU004607|OMIM2016_04_17:MTHU047988|SNOMEDCT_US_2016_09_01:140804007|SNOMEDCT_US_2016_09_01:158139003|SNOMEDCT_US_2016_09_01:206733006|SNOMEDCT_US_2016_09_01:269033007|SNOMEDCT_US_2016_09_01:323091004|SNOMEDCT_US_2016_09_01:41497008 C1518731 Ovarian sertoli-leydig cell tumor with retiform elements Ovarian Sertoli-Leydig Cell Tumor with Retiform Elements NCI2016_02D:A Sertoli-Leydig cell tumor characterized by the presence of spaces that resemble rete testis (retiform elements). These spaces form anastomosing patterns and comprise at least ten percent but less than ninety percent of the tumor. When the retiform elements comprise ninety percent or more of the tumor, the term retiform Sertoli-Leydig cell tumor is used. A minority of patients may have an aggressive clinical course. C2751321 Macrocephaly, alopecia, cutis laxa, and scoliosis MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS | MACS SYNDROME | MACS Syndrome | Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis | TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS MSH2017_2016_08_12:C567770|OMIM2016_04_17:610222|OMIM2016_04_17:613075 C1849020 Short metatarsal Hypoplasia of the metatarsal bones | Hypoplastic metatarsals | Short long bone of foot | Short metatarsal | Short metatarsal bone | Short metatarsal bones | Short metatarsals | Shortened metatarsals | Shortening of the metatarsals HPO2016_07_04:Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. [HPO:probinson, pmid:19125433] HPO2016_07_04:HP:0010743|OMIM2016_04_17:MTHU006453|OMIM2016_04_17:MTHU007671|OMIM2016_04_17:MTHU007874|OMIM2016_04_17:MTHU009268|OMIM2016_04_17:MTHU025817|OMIM2016_04_17:MTHU043718 C0810022 Other upper respiratory disease Other upper respiratory disease C0010606 Adenoid cystic carcinoma Adenocarcinoma, cylindroid | Adenocarcinoma, cylindroid type | Adenocystic Carcinoma | Adenocystic Carcinomas | Adenocystic carcinoma | Adenoid Cystic Carcinoma | Adenoid Cystic Carcinomas | Adenoid cystic carcinoma | Adenoid cystic carcinoma (morphologic abnormality) | Bronchial adenoma, cylindroid | Carcinoma, Adenocystic | Carcinoma, Adenoid Cystic | Carcinoma, Adenoid Cystic [Disease/Finding] | Carcinomas, Adenocystic | Carcinomas, Adenoid Cystic | Cylindroid Adenocarcinoma | Cylindroid adenocarcinoma | Cylindroid bronchial adenoma | Cylindroma | Cylindroma (except Cylindroma of skin, M-82000) | Cylindroma (morphologic abnormality) | Cylindroma, NOS (except Cylindroma of skin, M-82000) | Cylindromas | Cystic Carcinoma, Adenoid | Cystic Carcinomas, Adenoid | [M](Adenoid cystic carcinoma) or (cylindroid adenocarcinoma) or (cylindroid bronchial adenoma) or (cylindroma NOS) | [M](Adenoid cystic carcinoma) or (cylindroid adenocarcinoma) or (cylindroid bronchial adenoma) or (cylindroma NOS) (disorder) | [M]Adenoid cystic carcinoma | [M]Cylindroid adenocarcinoma | [M]Cylindroid bronchial adenoma | [M]Cylindroma NOS | adenocystic carcinoma | adenoid cystic cancer | adenoid cystic carcinoma | adenoid cystic carcinoma (diagnosis) | adenoid cystic carcinomas | carcinoma adenoid cystic | cylindroma | cylindromas MSH2017_2016_08_12:Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed) | NCI2016_02D:A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic. | NCI2016_NCI-GLOSS_1602D:A rare type of cancer that usually begins in the salivary glands. MSH2017_2016_08_12:D003528|SNOMEDCT_US_2016_09_01:11671000|SNOMEDCT_US_2016_09_01:189594000|SNOMEDCT_US_2016_09_01:302827006 C1857809 Deafness, autosomal recessive 44 DEAFNESS, AUTOSOMAL RECESSIVE 44 | DFNB44 | Deafness, Autosomal Recessive 44 MSH2017_2016_08_12:C565716|OMIM2016_04_17:610154 C0024141 Lupus erythematosus, systemic DISSEMINATED LUPUS ERYTHEMATOSUS | Disseminated lupus erythematosus | LE SYNDROME | LE syndrome | LE systemic | LUPUS | LUPUS ERYTHEMATOSIS (NOS) | LUPUS ERYTHEMATOSIS DISSEMINATED | LUPUS ERYTHEMATOSUS SYSTEMIC | LUPUS ERYTHEMATOSUS, DISSEMINATED | LUPUS ERYTHEMATOSUS, SYSTEMIC | LUPUS SYNDROME | LUPUS, ERYTHEMATOSUS, SYSTEMIC | Lupus Erythematosus Disseminatus | Lupus Erythematosus, Systemic | Lupus Erythematosus, Systemic [Disease/Finding] | Lupus erythematosis disseminated | Lupus erythematosus systemic | Lupus erythematosus, Systemic | Lupus erythematosus, disseminated | Lupus erythematosus, systemic | Lupus syndrome | SLE | SLE - Lupus Erythematosus, Systemic | SLE - Systemic lupus erythematosus | SLE NOS | SYNDROME DISSEMINATED LUPUS ERYTHEMATOSIS | SYNDROME LUPUS | SYSTEMIC LUPUS ERYTHEMATOSIS | SYSTEMIC LUPUS ERYTHEMATOSUS | SYSTEMIC LUPUS ERYTHEMATOSUS SYND | Syndrome disseminated lupus erythematosis | Syndrome lupus | Systemic Lupus Erythematosus | Systemic lupus erythematos.NOS | Systemic lupus erythematosis | Systemic lupus erythematosus | Systemic lupus erythematosus (SLE) | Systemic lupus erythematosus (disorder) | Systemic lupus erythematosus NOS | Systemic lupus erythematosus NOS (disorder) | Systemic lupus erythematosus synd | Systemic lupus erythematosus, unspecified | disseminated lupus erythematosus | erythematosis lupus systemic | erythematosus; lupus, systemic | le syndrome | les syndrome | lupus | lupus erythematosis | lupus erythematosus disseminatus | lupus syndrome | lupus syndromes | lupus; erythematosus, systemic | sles | syndrome lupus | system; lupus erythematosus | systemic lupus | systemic lupus erythematosus | systemic lupus erythematosus (SLE) | systemic lupus erythematosus (diagnosis) CSP2006:chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes; it is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system; the disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. | HPO2016_07_04:A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. [HPO:probinson] | MSH2017_2016_08_12:A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. | NCI2016_02D:An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. | NCI2016_NCI-GLOSS_1602D:A chronic, inflammatory, connective tissue disease that can affect many organs including the joints, skin, heart, lungs, kidneys, and nervous system. It is marked by many different symptoms; however, not everyone with SLE has all of the symptoms. | NCI2016_NICHD_1602D:An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. HPO2016_07_04:HP:0002725|ICD10CM_2017:M32|ICD10CM_2017:M32.9|ICD9CM_2014:710.0|MSH2017_2016_08_12:D008180|OMIM2016_04_17:152700|OMIM2016_04_17:MTHU016290|SNOMEDCT_US_2016_09_01:156450004|SNOMEDCT_US_2016_09_01:201435004|SNOMEDCT_US_2016_09_01:201439005|SNOMEDCT_US_2016_09_01:55464009 C4023159 Reduced factor ix activity Reduced factor IX activity HPO2016_07_04:Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. [HPO:probinson] HPO2016_07_04:HP:0011858 C0011317 Denial (psychology) Denial | Denial (Psychology) | Denial - mental defence mechanism | Denial - mental defense mechanism | Denial - mental defense mechanism (finding) | Denials (Psychology) | Psychological Denial | denial | denials | rndx denial | rndx denial (diagnosis) CCC2_5:Attempt to reduce anxiety by refusal to accept thoughts, feelings, or facts | MSH2017_2016_08_12:Refusal to admit the truth or reality of a situation or experience. | NCI2016_02D:A psychological defense mechanism that allows a person to avoid the reality of the situation by refusing to acknowledge it. | NCI2016_NCI-GLOSS_1602D:In psychiatry, a state in which a person is unable or unwilling to see the truth or reality about an issue or situation. | PSY2004:Exclusion from conscious awareness of unpleasant realities, which would produce anxiety if acknowledged. MSH2017_2016_08_12:D003717|SNOMEDCT_US_2016_09_01:78222005 C1332192 Adult brain stem neoplasm Adult Brain Stem Neoplasm | Adult Brain Stem Tumor | Adult Brainstem Neoplasm | Adult Brainstem Tumor | Neoplasm of Adult Brain Stem | Neoplasm of Adult Brainstem | Neoplasm of the Adult Brain Stem | Neoplasm of the Adult Brainstem | Tumor of Adult Brain Stem | Tumor of Adult Brainstem | Tumor of the Adult Brain Stem | Tumor of the Adult Brainstem C0340803 Capillary malformation (disorder) CAPILLARY MALFORMATIONS | CAPILLARY MALFORMATIONS, CONGENITAL | CMAL | CMC | Capillary Malformations | Capillary Malformations, Congenital, 1 | Capillary malformation | Capillary malformation (diagnosis) | Capillary malformation (disorder) | Capillary malformations | Congenital anomaly of capillary | PORT-WINE STAIN | anomaly; capillary | capillary; anomaly | congenital anomaly of cardiovascular system capillary malformation MSH2017_2016_08_12:C562760|OMIM2016_04_17:163000|OMIM2016_04_17:MTHU030217|OMIM2016_04_17:MTHU045255|SNOMEDCT_US_2016_09_01:234118009 C4024082 Abnormality of the first metatarsal bone Abnormality of the 1st long bone of foot | Abnormality of the first metatarsal bone HPO2016_07_04:An anomaly of the first metatarsal bone. [HPO:probinson] HPO2016_07_04:HP:0010054 C0040015 Thrombasthenia BDPLT2 | BLEEDING DISORDER, PLATELET-TYPE, 2 | GLANZMANN DISEASE | GLANZMANN THROMBASTHENIA | GLYCOPROTEIN COMPLEX IIb-IIIa, DEFICIENCY OF | GP IIb-IIIa COMPLEX, DEFICIENCY OF | GT | Glanzmann Thrombasthenia | Glanzmann thrombasthenia | Glanzmann thromboasthenia | Glanzmann's disease | Glanzmann's syndrome | Glanzmann's thrombasthenia | Glanzmann's thrombasthenia (disorder) | Glanzmann's thrombosthenin disorder | Glanzmann-Naegeli disorder | Glanzsmann's disease | Glycoprotein IIb/IIIa defect | Glycoprotein IIb/IIIa defect (disorder) | Hereditary haemorrhagic thrombasthenia | Hereditary hemorrhagic thrombasthenia | Hereditary thrombasthenia | Hereditary thromboasthenia | Hereditary thromboasthenia, NOS | PLATELET FIBRINOGEN RECEPTOR, DEFICIENCY OF | PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY | THROMBASTHENIA | THROMBASTHENIA OF GLANZMANN AND NAEGELI | THROMBOASTHENIA | Thrombasthenia | Thrombasthenia [Disease/Finding] | Thrombasthenia of Glanzmann and Naegeli | Thrombasthenia, Glanzmann | Thrombasthenia, NOS | Thrombasthenia, hemorrhagic | Thrombasthenia, hereditary | Thrombasthenias | Thromboasthenia | Thromboasthenia, NOS | Thrombocytasthenia | Thrombosthenin disorder | glanzmann thrombasthenia | glanzmann's disease | glanzmann's thrombasthenia | glanzmanns thrombasthenia | hereditary thromboasthenia | hereditary thromboasthenia (diagnosis) | thrombasthenia | thromboasthenia | thromboasthenia (diagnosis) | thrombocytasthenia | thrombocytasthenia (diagnosis) CSP2006:platelet abnormality characterized by defective clot formation, impaired aggregation, and prolonged bleeding time; other manifestations include nosebleeds, inappropriate bruising, and excessive bleeding. | MSH2017_2016_08_12:A congenital bleeding disorder with prolonged bleeding time, absence of aggregation of platelets in response to most agents, especially ADP, and impaired or absent clot retraction. Platelet membranes are deficient in or have a defect in the glycoprotein IIb-IIIa complex (PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX). | NCI2016_02D:A rare, autosomal recessive inherited and less frequently acquired platelet disorder. It is characterized by deficient or dysfunctional glycoprotein IIb/IIIa complex. It leads to defective platelet aggregation, resulting in bleeding. HPO2016_07_04:HP:0001872|HPO2016_07_04:HP:0001975|ICD10CM_2017:D69.1|MSH2017_2016_08_12:D013915|OMIM2016_04_17:173470|OMIM2016_04_17:273800|OMIM2016_04_17:607759|OMIM2016_04_17:MTHU009114|SNOMEDCT_US_2016_09_01:191310008|SNOMEDCT_US_2016_09_01:30577005|SNOMEDCT_US_2016_09_01:32942005 C0008298 Polyp in nasopharynx Antrochoanal polyp | Antrochoanal polyp (disorder) | Antrochoanal polyp (finding) | Choanal polyp | Choanal polyp (disorder) | Nasal polyp - posterior | Nasal polyp - posterior (disorder) | Nasopharyngeal Polyp | Nasopharyngeal polyp | Nasopharynx Polyp | Polyp in nasopharynx | Polyp in nasopharynx (disorder) | Polyp of Nasopharynx | Polyp of the Nasopharynx | Polyp, choanal | Polyp, nasopharyngeal | antrochoanal polyp | antrochoanal polyps | choanal polyp | choanal; polyp | nasopharyngeal polyp | nasopharyngeal; polyp | polyp; choanal | polyp; nasopharyngeal NCI2016_02D:A benign exophytic growth that arises from the nasopharynx. ICD10CM_2017:J33.0|SNOMEDCT_US_2016_09_01:195753001|SNOMEDCT_US_2016_09_01:249365009|SNOMEDCT_US_2016_09_01:30677002|SNOMEDCT_US_2016_09_01:373605001|SNOMEDCT_US_2016_09_01:373610002 C3151380 Schizophrenia 15 SCHIZOPHRENIA 15 | SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED | SCZD15 OMIM2016_04_17:606230|OMIM2016_04_17:613950 C1858298 Van der woude syndrome 1, modifier of VAN DER WOUDE SYNDROME 1, MODIFIER OF | VWSM OMIM2016_04_17:604547 C0206115 Wagr syndrome 11p Partial Monosomy Syndrome | 11p partial monosomy syndrome | 11p partial monosomy syndrome (diagnosis) | 11p partial monosomy syndrome (disorder) | Aniridia-Wilms tumor association | Aniridia-Wilms tumour association | CHROMOSOME 11p13 DELETION SYNDROME | Chromosome 11p13 Deletion Syndrome | Chromosome 11p13 deletion syndrome | Chromosome 11p13 deletion syndrome (disorder) | Complex, WAGR | Contiguous Gene Syndrome, WAGR | Syndrome, WAGR | WAGR | WAGR (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome | WAGR (Wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome | WAGR Complex | WAGR Complices | WAGR Contiguous Gene Syndrome | WAGR SYNDROME | WAGR Syndrome | WAGR Syndrome [Disease/Finding] | WAGR Syndromes | WAGR syndrome | WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME | Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome | Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome | Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome | Wilms Tumor-Aniridia-Genitourinary Anomalies-MR Syndrome | Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome | Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome | Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome | Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome | Wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome | anomaly of chromosome pair 11p partial monosomy syndrome MSH2017_2016_08_12:A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY. | NCI2016_02D:A very rare congenital condition involving the complex of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. Two or more of the four conditions must be present for an individual to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities. | NCI2016_NCI-GLOSS_1602D:A rare, genetic disorder that is present at birth and has two or more of the following symptoms: Wilms tumor (a type of kidney cancer); little or no iris (the colored part of the eye); defects in the sexual organs and urinary tract (the organs that make urine and pass it from the body); and below average mental ability. This syndrome occurs when part of chromosome 11 is missing. | NCI2016_NICHD_1602D:A condition characterized by proteinuria associated with aniridia, genitourinary anomalies, mental retardation, and a predisposition for Wilms tumor; it is caused by a deletion of the region containing the WT1 and PAX6 genes on chromosome 11. | SNOMEDCT_US_2016_09_01:Syndrome associated with an increased risk of developing Wilms tumor, which can occur at any age, and with total or partial aniridia with possible glaucoma or cataract, genitourinary disorders ranging from sexual ambiguity to ectopia testis, and variable degrees of intellectual deficit. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11, the microdeletion is de novo in most cases, but it may result from an inherited parental translocation. | SNOMEDCT_US_2016_09_01:Syndrome associated with an increased risk of developing Wilms tumour, which can occur at any age, and with total or partial aniridia with possible glaucoma or cataract, genitourinary disorders ranging from sexual ambiguity to ectopia testis, and variable degrees of intellectual deficit. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11, the microdeletion is de novo in most cases, but it may result from an inherited parental translocation. MSH2017_2016_08_12:D017624|OMIM2016_04_17:194072|SNOMEDCT_US_2016_09_01:4135001|SNOMEDCT_US_2016_09_01:715215007 C2706915 Language:-:point in time:^patient:- Language | Language:-:Point in time:^Patient:- | Language:-:Pt:^Patient:- C0259786 Rhabdoid meningioma Meningioma, rhabdoid | Meningioma, rhabdoid (morphologic abnormality) | Rhabdoid Meningioma | Rhabdoid meningioma NCI2016_02D:A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets. SNOMEDCT_US_2016_09_01:399469000 C0270814 Spastic syndrome Crampy | Krampfigkeit | Spastic syndrome | Spastic syndrome (disorder) | Stretches | crampy | spastic syndrome | stretches SNOMEDCT_US_2016_09_01:10932009|SNOMEDCT_US_2016_09_01:386781001 C0263351 Pruritus, senilis Pruritus senile | Pruritus senilis | Pruritus senilis (disorder) | Pruritus, senilis | Senile pruritus | Senile pruritus (disorder) | pruritus senilis | pruritus senilis (diagnosis) | pruritus; senile | senile; pruritus SNOMEDCT_US_2016_09_01:156385003|SNOMEDCT_US_2016_09_01:42570001 C1336313 Stage ii carcinoma of renal pelvis Stage II Carcinoma of Renal Pelvis | Stage II Carcinoma of the Renal Pelvis | Stage II Renal Pelvis Carcinoma | Stage II Renal Pelvis Carcinoma AJCC v6 | Stage II Renal Pelvis Carcinoma AJCC v7 NCI2016_02D:Stage II includes: T2, N0, M0. T2: Tumor invades muscularis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) C0238525 Sarcoma of vulva Sarcoma of vulva | Sarcoma of vulva (disorder) | VULVA, SARCOMA | VULVAR CANCER, SARCOMA | Vulvar Sarcoma | sarcoma of vulva | sarcoma of vulva (diagnosis) | sarcoma vulva | vulva sarcoma | vulvar sarcoma NCI2016_02D:A malignant soft tissue neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma. SNOMEDCT_US_2016_09_01:254897006 C2937222 Ulcerative proctitis Chronic ulcerative proctitis | Chronic ulcerative proctitis (disorder) | IP - Idiopathic proctitis | Idiopathic proctitis | PROCTITIS ULCERATIVE | Proctitis ulcerative | UC - Ulcerative colitis confined to rectum | ULCERATIVE PROCTITIS | Ulcerative (chronic) proctitis | Ulcerative (chronic) proctitis NOS | Ulcerative Proctitis | Ulcerative colitis confined to rectum | Ulcerative proctitis | proctitis ulcerative | proctitis ulceratives | proctitis; ulcerative | ulcerative proctitis | ulcerative proctitis (diagnosis) | ulcerative; proctitis ICD10CM_2017:K51.2|ICD10CM_2017:K51.20|ICD9CM_2014:556.2|SNOMEDCT_US_2016_09_01:52231000 C0153188 Syphilis tertiary Late syphilis | Late syphilis (disorder) | Late syphilis unspecified | Late syphilis unspecified (disorder) | Late syphilis, NOS | Late syphilis, unspecified | Late tertiary syphilis | SYPHILIS TERTIARY | Syphilis (late) | Syphilis, tertiary | Tertiary Syphilis | Tertiary Treponema pallidum infection | Tertiary syphilis | [X]Late syphilis, unspecified | [X]Late syphilis, unspecified (disorder) | late syphilis | late syphilis (diagnosis) | late tertiary syphilis | late; syphilitic | syphilis tertiary | syphilis; late | syphilis; tertiary | tertiary syphilis | tertiary; syphilitic ICD10CM_2017:A52|ICD10CM_2017:A52.3|ICD10CM_2017:A52.9|ICD9CM_2014:097.0|MSH2017_2016_08_12:C536774|SNOMEDCT_US_2016_09_01:186905004|SNOMEDCT_US_2016_09_01:187358009|SNOMEDCT_US_2016_09_01:276200006|SNOMEDCT_US_2016_09_01:72083004 C0270861 Migraines retinal Retinal migraine | Retinal migraine (disorder) | migraine; retinal | migraines retinal | retinal migraine | retinal migraine (diagnosis) | retinal migraine headache | retinal; migraine ICD10CM_2017:G43.1|SNOMEDCT_US_2016_09_01:79267007 C1856507 Bulbar signs Bulbar signs HPO2016_07_04:HP:0002483|OMIM2016_04_17:MTHU012819 C1850994 Foveal hypoplasia with anterior segment anomalies FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES | Foveal Hypoplasia with Anterior Segment Anomalies MSH2017_2016_08_12:C565006 C0546964 Genu recurvatum Back knee | Genu Recurvatum | Genu recurvata | Genu recurvatum | Hyperextension Deformity of Knee | Hyperextension deformity of knee | Hyperextension of Knee Deformity | Knee hyperextension | genu recurvatum | genu recurvatum (physical finding) | genu; recurvatum | knee deformity genu recurvatum | recurvatum; genu HPO2016_07_04:An abnormally increased extension of the knee joint, so that the knee can bend backwards. [HPO:probinson, pmid:9580896] | NCI2016_02D:An abnormal alignment of the knee backwards that is due to a deformity in the knee joint. HPO2016_07_04:HP:0002816|OMIM2016_04_17:MTHU001463|OMIM2016_04_17:MTHU008149 C4014993 Focal segmental glomerulosclerosis 8 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 | FSGS8 | GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 8 OMIM2016_04_17:616027|OMIM2016_04_17:616032 C0149931 Migraine disorders Disorder, Migraine | Disorders, Migraine | HEADACHE MIGRAINE | HEADACHE MIGRAINOUS | HEADACHE, MIGRAINE | Headache, Migraine | Headache;migraine | Headaches, Migraine | MIGRAINE | MIGRAINE HEADACHE | MIGRAINE SYNDROME | MIGRAINES | Migraine | Migraine (disorder) | Migraine Disorder | Migraine Disorders | Migraine Disorders [Disease/Finding] | Migraine Headache | Migraine Headaches | Migraine NOS | Migraine NOS (disorder) | Migraine headache | Migraine headaches | Migraine type headaches | Migraine, NOS | Migraine, unspecified | Migraines | Migrainous headache | disorder migraine | disorders migraine | headache migraines | headache; migraine | migraine | migraine headache | migraine headache (diagnosis) | migraine headaches | migraine nos | migraine syndrome | migraine syndromes | migraine; headache | migraine; syndrome | migraines | syndrome; migraine CSP2006:neural condition characterized by a severe recurrent vascular headache, usually on one side of the head, often accompanied by nausea, vomiting, and photophobia, sometimes preceded by sensory disturbances; triggers include allergic reactions, excess carbohydrates or iodine in the diet, alcohol, bright lights or loud noises. | HPO2016_07_04:Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. [HPO:probinson, pmid:15304572] | MEDLINEPLUS_20151021:If you suffer from migraine headaches, you're not alone. About 12 percent of the U.S. population gets them. Migraines are recurring attacks of moderate to severe pain. The pain is throbbing or pulsing, and is often on one side of the head. During migraines, people are very sensitive to light and sound. They may also become nauseated and vomit.
Migraine is three times more common in women than in men. Some people can tell when they are about to have a migraine because they see flashing lights or zigzag lines or they temporarily lose their vision.
Many things can trigger a migraine. These include
Doctors used to believe migraines were linked to the opening and narrowing of blood vessels in the head. Now they believe the cause is related to genes that control the activity of some brain cells. Medicines can help prevent migraine attacks or help relieve symptoms of attacks when they happen. For many people, treatments to relieve stress can also help.
NIH: National Institute of Neurological Disorders and Stroke
| MSH2017_2016_08_12:A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) | NCI2016_02D:A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity. | NCI2016_NICHD_1602D:A headache disorder characterized by recurrent episodes of moderate to severe pulsating pain, and may be associated with nausea, vomiting, photophobia , phonophobia, and worsening with exertion. HPO2016_07_04:HP:0002076|ICD10CM_2017:G43|ICD10CM_2017:G43.9|ICD10CM_2017:G43.909|ICD9CM_2014:346|ICD9CM_2014:346.9|MSH2017_2016_08_12:D008881|OMIM2016_04_17:157300|OMIM2016_04_17:MTHU000096|OMIM2016_04_17:MTHU000541|SNOMEDCT_US_2016_09_01:155046006|SNOMEDCT_US_2016_09_01:155048007|SNOMEDCT_US_2016_09_01:193041007|SNOMEDCT_US_2016_09_01:267699004|SNOMEDCT_US_2016_09_01:37796009 C0017565 Gingival hemorrhage BLEEDING GINGIVAL | Bleeding gingival | Bleeding gums | Bleeding gums (finding) | Bleeding;gums | GINGIVAL BLEEDING | GINGIVITIS HEMORRHAGIC | GUM HEMORRHAGE | Gingiva Hemorrhage | Gingival Hemorrhage | Gingival Hemorrhage [Disease/Finding] | Gingival Hemorrhages | Gingival bleeding | Gingival haemorrhage | Gingival haemorrhages | Gingival hemorrhage | Gingival hemorrhages | Gingivitis haemorrhagic | Gingivitis hemorrhagic | Gum bleeding | Gum haemorrhage | Gum hemorrhage | HEMORRHAGE GINGIVAL | HEMORRHAGE GUM | Haemorrhage gingival | Haemorrhage gum | Hemorrhage gingival | Hemorrhage gum | Hemorrhage, Gingival | bleed gums | bleeding from the gums | bleeding gingival | bleeding gum | bleeding gums | bleeding gums (symptom) | gingiva; hemorrhage | gingival bleeding | gingival hemorrhage | gingival hemorrhage (physical finding) | gum bleed | gum bleeding | gum; hemorrhage | gums bleeding | hemorrhage; gingiva | hemorrhage; gum HPO2016_07_04:Hemorrhage affecting the gingiva. [HPO:ibailleulforestier] | MSH2017_2016_08_12:The flowing of blood from the marginal gingival area, particularly the sulcus, seen in such conditions as GINGIVITIS, marginal PERIODONTITIS, injury, and ASCORBIC ACID DEFICIENCY. HPO2016_07_04:HP:0000225|MSH2017_2016_08_12:D005884|OMIM2016_04_17:MTHU009112|OMIM2016_04_17:MTHU013056|OMIM2016_04_17:MTHU024486|SNOMEDCT_US_2016_09_01:139282006|SNOMEDCT_US_2016_09_01:162015001|SNOMEDCT_US_2016_09_01:86276007 C0854781 Stage i rectosigmoid cancer Rectosigmoid cancer stage I | Stage I Rectosigmoid Cancer | Stage I Rectosigmoid Cancer AJCC v6 | Stage I Rectosigmoid Cancer AJCC v7 | Stage I Rectosigmoid Carcinoma NCI2016_02D:Stage I includes: (T1, N0, M0); (T2, N0, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) C2676974 Hypoplastic cochlea Hypoplasia of the cochlea | Hypoplastic cochlea | Underdeveloped cochlea HPO2016_07_04:Developmental hypoplasia of the cochlea. [HPO:probinson] HPO2016_07_04:HP:0008586|OMIM2016_04_17:MTHU022472 C0004134 Ataxia ATAXIA | Ataxia | Ataxia (finding) | Ataxia (loss of muscle coordination) | Ataxia NOS | Ataxia [D] | Ataxia [D] (finding) | Ataxia [D] (situation) | Ataxia [Disease/Finding] | Ataxia, NOS | Ataxia, unspecified | Ataxias | Ataxy | Coordination Impairment | Coordination Impairments | Dyssynergia | Impairment, Coordination | Impairments, Coordination | [D]Ataxia | [D]Ataxia (context-dependent category) | [D]Ataxia (situation) | [D]Ataxia NOS | [D]Ataxia NOS (context-dependent category) | [D]Ataxia NOS (situation) | ataxia | ataxia (diagnosis) | dyssynergia | reported ataxia | walk is wobbly or unsteady | walk is wobbly or unsteady (symptom) | walk is wobbly or unsteady as symptom CHV2011_02:unable to coordinate muscle movement | CSP2006:awkwardness in motor behavior associated with loss of afferent information from the moving part or with loss of control mechanism of the cerebellum. | HPO2016_07_04:A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. [HPO:probinson] | MSH2017_2016_08_12:Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions. | NCI2016_02D:Lack of coordination of muscle movements resulting in the impairment or inability to perform voluntary activities. Causes include peripheral nerve disorders, posterior column injuries, cerebral and cerebellar disorders, basal ganglia disorders, and thalamic disorders. | NCI2016_CTCAE_1602D:A disorder characterized by lack of coordination of muscle movements resulting in the impairment or inability to perform voluntary activities. | NCI2016_NCI-GLOSS_1602D:Loss of muscle coordination. | NCI2016_NICHD_1602D:A movement disorder characterized by a lack of coordination of muscle movements resulting in the impaired performance of voluntary activities. | PSY2004:Loss of coordination of voluntary muscular movement. HPO2016_07_04:HP:0010867|ICD10CM_2017:R27.0|MSH2017_2016_08_12:D001259|OMIM2016_04_17:MTHU036349|SNOMEDCT_US_2016_09_01:158202006|SNOMEDCT_US_2016_09_01:20262006|SNOMEDCT_US_2016_09_01:206825002|SNOMEDCT_US_2016_09_01:274241003|SNOMEDCT_US_2016_09_01:39384006 C0231678 Ulnar deviation of the wrist Ulnar deviation of the wrist | Ulnar deviation of the wrist (finding) | Ulnar deviation of the wrists | Ulnar deviation of wrists | Ulnar wrist deviation HPO2016_07_04:HP:0003049|OMIM2016_04_17:MTHU011196|OMIM2016_04_17:MTHU015880|OMIM2016_04_17:MTHU022513|OMIM2016_04_17:MTHU033466|SNOMEDCT_US_2016_09_01:43689004 C0041308 Cardiovascular tuberculoses Cardiovascular Tuberculoses | Cardiovascular Tuberculosis | Tuberculoses, Cardiovascular | Tuberculosis, Cardiovascular | Tuberculosis, Cardiovascular [Disease/Finding] MSH2017_2016_08_12:Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM. MSH2017_2016_08_12:D014381 C1857749 Aneurysm, intracranial berry, 4 (disorder) ANEURYSM, INTRACRANIAL BERRY, 4 | ANEURYSM, INTRACRANIAL BERRY, 4 (disorder) | ANIB4 | Aneurysm, Intracranial Berry, 4 MSH2017_2016_08_12:C565700|OMIM2016_04_17:610213 C2220104 Blister of skin Blister of skin | Blister of skin (finding) | Blister;skin | Blistered skin | Blistering skin | Cutaneous blister | Dermal blister | Skin blister | Skin blistering | Skin blisters | blister skin | blistered skin | blistering skin | blisters skin | skin blister | skin blister (symptom) | skin: a blister [as symptom] HPO2016_07_04:HP:0008066|OMIM2016_04_17:MTHU036507|OMIM2016_04_17:MTHU051940 C0234894 Dermatitis acneiform ACNEIFORM DERMATITIS | Acneiform Dermatitis | Acneiform dermatitis | Dermatitis acneiform | Dermatitis acniform | Rash acneiform NCI2016_02D:Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids). | NCI2016_CTCAE_1602D:A disorder characterized by an eruption of papules and pustules, typically appearing in face, scalp, upper chest and back. C0848866 Carcinoma eye Carcinoma of Eye | Carcinoma of the Eye | Carcinoma;eye | Eye Carcinoma | Ocular Carcinoma | carcinoma eye | carcinoma of eye | carcinoma of eye (diagnosis) | carcinoma of the eye | eye carcinoma C4025731 Abnormal thrombosis Abnormal blood clot | Abnormal thrombosis HPO2016_07_04:Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). [HPO:probinson] HPO2016_07_04:HP:0001977 C0011608 Dermatitis herpetiformis DERMATITIS HERPETIFORMIS | DERMATITIS, HERPETIFORMIS | DH - Dermatitis herpetiformis | DUHRING DISEASE | Dermatitis Herpetiformis | Dermatitis Herpetiformis [Disease/Finding] | Dermatitis herpetiformis | Dermatitis herpetiformis (disorder) | Dermatitis herpetiformis [dup] (disorder) | Dermatitis;herpetiformis | Dermatosis herpetiformis | Disease, Duhring | Disease, Duhring's | Duhring | Duhring Disease | Duhring's Disease | Duhring's disease | Duhring-Brocq disease | Duhrings Disease | dermatitis herpetiformis | dermatitis herpetiformis (diagnosis) | dermatitis; herpetiformis | dermatosis; herpetiformis | disease duhring's | duhring disease | duhring's disease | duhrings disease | herpetiformis dermatitis | herpetiformis; dermatitis | herpetiformis; dermatosis MSH2017_2016_08_12:Rare, chronic, papulo-vesicular disease characterized by an intensely pruritic eruption consisting of various combinations of symmetrical, erythematous, papular, vesicular, or bullous lesions. The disease is strongly associated with the presence of HLA-B8 and HLA-DR3 antigens. A variety of different autoantibodies has been detected in small numbers in patients with dermatitis herpetiformis. | NCI2016_02D:A chronic autoimmune skin disorder characterized by the development of pruritic papulovesicular and bullous lesions in the elbows, knees, buttocks, and back. It is associated with an increased expression of HLA-A1, HLA-B8, and HLA-DR3 antibodies. ICD10CM_2017:L13.0|ICD9CM_2014:694.0|MSH2017_2016_08_12:D003874|OMIM2016_04_17:MTHU037304|SNOMEDCT_US_2016_09_01:111196000|SNOMEDCT_US_2016_09_01:156354007|SNOMEDCT_US_2016_09_01:200899006 C0549253 Bladder dilatation BLADDER DILATATION | Bladder dilatation | Dilatation of the bladder | Megabladder | bladder; dilatation | dilatation; bladder HPO2016_07_04:The presence of a dilated urinary bladder. [HPO:probinson] HPO2016_07_04:HP:0010955|OMIM2016_04_17:MTHU045616 C4020872 Cranial nerve abnormality Cranial nerve abnormality HPO2016_07_04:HP:0001291 C0265493 Cat eye syndrome CAT EYE SYNDROME | CES | CES - Cat eye syndrome | CHROMOSOME 22 PARTIAL TETRASOMY | Cat Eye syndrome | Cat eye syndrome | Cat eye syndrome (disorder) | Cat-Eye Syndrome | Chromosomal imbalance syndrome, pair 6, partial trisomy | Chromosome 22 partial tetrasomy | INV DUP(22)(Q11) | INV DUP(22)(q11) | Partial trisomy 6 syndrome | SCHMID-FRACCARO SYNDROME | Schachenmann's syndrome | Schmid-Fraccaro syndrome | cat eye syndrome | cat eye syndrome (CES) | cats eye syndrome | coloboma-anal atresia syndrome | ocular coloboma-imperforate anus syndrome | schmid fraccaro syndrome | schmid-fraccaro syndrome JABL99:Coloboma of the iris (giving the appearance of a vertical pupil, hence the name "cat eye"), atresia of the anus, preauricular tags or fistulae, congenital cardiovascular abnormalities, urinary tract anomalies, and reduced growth rate. Mental retardation is not a consistent feature and, when present, it is usually mild. | NCI2016_02D:A rare genetic syndrome caused by abnormalities of chromosome 22. It is characterized by anal atresia with fistula formation, coloboma of the iris, down slanting palpebral fissures, and heart and kidney malformations. MSH2017_2016_08_12:C535918|OMIM2016_04_17:115470|SNOMEDCT_US_2016_09_01:26445008 C1970270 Choreoathetosis and congenital hypothyroidism Choreoathetosis And Congenital Hypothyroidism MSH2017_2016_08_12:C567034 C0019080 Hemorrhage BLEEDING | BLEED_NOS PROBLEM | BLOOD LOSS | Bleeding | Bleeding (disorder) | Bleeding (finding) | Bleeding -RETIRED- | Bleeding, NOS | Blood loss | Blood loss of (NOS) | EXTRAVASATION BLOOD | Extravasation blood | Extravasation of blood | HAEMORRHAGE NOS | HEM | HEMORRHAGE | HEMORRHAGE (NOS) | HEMORRHAGE NOS | HEMORRHAGES | Haemorrhage | Haemorrhage NOS | Haemorrhage NOS (disorder) | Haemorrhage, NOS | Haemorrhage, unspecified | Hem | Hemorrhage | Hemorrhage (NOS) | Hemorrhage (morphologic abnormality) | Hemorrhage NOS | Hemorrhage NOS (disorder) | Hemorrhage [Disease/Finding] | Hemorrhage term | Hemorrhage, NOS | Hemorrhage, unspecified | Hemorrhages | bleed | bleeding | bleeding (symptom) | bleeding problem | bleeding problems | bleeds | blood loss | blood; extravasation | extravasation; blood | haemorrhage | haemorrhages | hemorrhage | hemorrhage (diagnosis) | hemorrhages CSP2006:escape of blood from the vessels; bleeding. | MEDLINEPLUS_20151021:Bleeding is the loss of blood. It can happen inside or outside the body. Bleeding can be a reaction to a cut or other wound. It can also result from an injury to internal organs.
There are many situations in which you might bleed. A bruise is bleeding under the skin. Some strokes are caused by bleeding in the brain. Other bleeding, such as gastrointestinal bleeding, coughing up blood, or vaginal bleeding, can be a symptom of a disease.
Normally, when you bleed, your blood forms clots to stop the bleeding. Severe bleeding may require first aid or a trip to the emergency room. If you have a bleeding disorder, your blood does not form clots normally.
| MSH2017_2016_08_12:Bleeding or escape of blood from a vessel. | NCI2016_02D:The flow of blood from a ruptured blood vessel. | NCI2016_CDISC_1602D:The presence of extravascular erythrocytes. | NCI2016_NCI-GLOSS_1602D:In medicine, loss of blood from damaged blood vessels. A hemorrhage may be internal or external, and usually involves a lot of bleeding in a short time. | NCI2016_NICHD_1602D:Loss of blood. ICD10CM_2017:R58|ICD9CM_2014:459.0|MSH2017_2016_08_12:D006470|OMIM2016_04_17:MTHU000443|SNOMEDCT_US_2016_09_01:123106001|SNOMEDCT_US_2016_09_01:131148009|SNOMEDCT_US_2016_09_01:155459009|SNOMEDCT_US_2016_09_01:195511004|SNOMEDCT_US_2016_09_01:303123004|SNOMEDCT_US_2016_09_01:50960005 C3888044 Nephrogenic systemic fibrosis NSF | Nephrogenic Systemic Fibrosis | Nephrogenic systemic fibrosis | Nephrogenic systemic fibrosis (disorder) NCI2016_02D:Fibrosis of the skin, joints and other organs usually associated with gadolinium exposure in the setting of kidney failure. | NCI2016_NICHD_1602D:Fibrosis of the skin, joints and other organs usually associated with gadolinium exposure in the setting of kidney failure. SNOMEDCT_US_2016_09_01:424114000 C1832146 Rarefaction of the metaphyses Metaphyseal rarefaction | Rarefaction of the metaphyses HPO2016_07_04:Reduction in density of metaphyseal bony tissue. [HPO:probinson] HPO2016_07_04:HP:0004980|OMIM2016_04_17:MTHU005924 C3272399 Gastric neuroendocrine tumor Gastric NET | Gastric Neuroendocrine Tumor | Gastric Well Differentiated Endocrine Tumor | Gastric Well Differentiated Endocrine Tumor/Carcinoma NCI2016_02D:A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. C3495439 Inflammatory disorder of breast BREAST DISEASE INFLAMMATORY | Inflammatory breast dis.NOS | Inflammatory breast disease | Inflammatory breast diseases NOS | Inflammatory breast diseases NOS (disorder) | Inflammatory disease of breast | Inflammatory disease of breast (& [mastitis]) | Inflammatory disease of breast (& [mastitis]) (disorder) | Inflammatory disorder of breast | Inflammatory disorder of breast (disorder) | Inflammatory disorders of breast | breast inflammation | inflammatory breast disease | inflammatory disease of breast | inflammatory disorders of breast (diagnosis) ICD10CM_2017:N61|ICD9CM_2014:611.0|SNOMEDCT_US_2016_09_01:155952005|SNOMEDCT_US_2016_09_01:198099006|SNOMEDCT_US_2016_09_01:198110007|SNOMEDCT_US_2016_09_01:266579006|SNOMEDCT_US_2016_09_01:266641007 C0563449 Epispadias, male (disorder) Anaspadias | Epispadias | Epispadias - male | Epispadias, male | Epispadias, male (disorder) | epispadias | epispadias (diagnosis) | penile epispadias | penile epispadias (physical finding) HPO2016_07_04:Displacement of the urethral opening on the dorsal (superior) surface of the penis. [HPO:probinson, pmid:23650202] HPO2016_07_04:HP:0000039|ICD9CM_2014:752.62|OMIM2016_04_17:MTHU037414|SNOMEDCT_US_2016_09_01:18364005|SNOMEDCT_US_2016_09_01:406477003 C3495676 Anorectal malformations ANORECTAL ANOMALIES | Anomalies, Anorectal | Anomaly, Anorectal | Anorectal Anomalies | Anorectal Anomaly | Anorectal Malformation | Anorectal Malformations | Anorectal anomaly | Anorectal anomaly (disorder) | Anorectal anomaly, NOS | Anorectal malformation | Malformation, Anorectal | Malformations, Anorectal | anorectal anomaly | anorectal malformation | anorectal malformations HPO2016_07_04:An abnormality of the anus or rectum. [HPO:probinson] | MSH2017_2016_08_12:Congenital defects in the anus and the rectum often involving the urinary and genital tracts. HPO2016_07_04:HP:0012732|MSH2017_2016_08_12:D000071056|OMIM2016_04_17:107100|OMIM2016_04_17:MTHU032168|SNOMEDCT_US_2016_09_01:33225004 C0037320 Night terrors NIGHT TERRORS | Night Terrors | Night Terrors [Disease/Finding] | Night terror | Night terror disorder | Night terrors | Night terrors (disorder) | Night terrors [Ambiguous] | Pavor Nocturnus | Pavor nocturnus | Pavor nocturnus (disorder) | Sleep Terror | Sleep Terror Disorder | Sleep Terrors | Sleep terror | Sleep terror disorder | Sleep terror disorder (disorder) | Sleep terrors | Sleep terrors [night terrors] | Terror, Sleep | Terrors, Sleep | night terror | night terrors | night terrors sleep | pavor nocturnus | sleep disorder; terrors | sleep terror | sleep terror disorder | sleep terror disorder (diagnosis) | sleep terrors | sleep; terrors | terrors; night | terrors; sleep disorder HPO2016_07_04:Episodes of intense fear, screaming and flailing although affected individuals are still asleep. [] | MSH2017_2016_08_12:A disorder characterized by incomplete arousals from sleep associated with behavior suggesting extreme fright. This condition primarily affects children and young adults and the individual generally has no recall of the event. Episodes tend to occur during stage III or IV. SOMNAMBULISM is frequently associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p391) | NCI2016_02D:A sleep disorder characterized by abrupt awakenings from sleep with a panicky scream, accompanied by signs of autonomic arousal. There is no recall of a nightmare and the person has amnesia for the event in the morning. | NCI2016_02D:Episodes of abrupt awakening associated with screaming, agitation and hyperarousal. | NCI2016_NICHD_1602D:Episodes of abrupt awakening associated with screaming, agitation and hyperarousal. HPO2016_07_04:HP:0030765|ICD10CM_2017:F51.4|MSH2017_2016_08_12:D020184|SNOMEDCT_US_2016_09_01:154928006|SNOMEDCT_US_2016_09_01:192002003|SNOMEDCT_US_2016_09_01:192458001|SNOMEDCT_US_2016_09_01:52417003|SNOMEDCT_US_2016_09_01:89675003 C0238094 Edema, idiopathic Cryptogenic edema | Cryptogenic oedema | EDEMA, IDIOPATHIC | Idiopathic edema | Idiopathic edema (disorder) | Idiopathic oedema | idiopathic edema | idiopathic oedema SNOMEDCT_US_2016_09_01:56977002 C3151568 Nephrotic syndrome, type 4 NEPHROTIC SYNDROME TYPE 4 | NEPHROTIC SYNDROME, TYPE 4 | NPHS4 OMIM2016_04_17:256370|OMIM2016_04_17:607102 C1866182 Penttinen-aula syndrome PENTT | PREMATURE AGING SYNDROME, PENTTINEN TYPE | Penttinen-Aula syndrome | Premature Aging Syndrome, Penttinen Type | Premature aging syndrome Penttinen type MSH2017_2016_08_12:C536653|OMIM2016_04_17:173410|OMIM2016_04_17:601812 C1862892 Hereditary angioedema type ii ANGIOEDEMA, HEREDITARY, TYPE II | Angioedema, Hereditary, Type II | HAE2 | Hereditary Angioedema Type II MSH2017_2016_08_12:D056829|OMIM2016_04_17:106100|OMIM2016_04_17:606860 C2018218 Spicy and hot food syndrome spicy and hot food syndrome | spicy and hot food syndrome (diagnosis) C0686135 Neoplasm of uncertain behavior of the perineum, nos Neoplasm of uncertain behavior of the perineum | Neoplasm of uncertain behavior of the perineum (disorder) | Neoplasm of uncertain behavior of the perineum, NOS | Neoplasm of uncertain behaviour of the perineum | Neoplasm of uncertain behaviour of the perineum, NOS | neoplasm of uncertain behavior of perineum | neoplasm of uncertain behavior of perineum (diagnosis) SNOMEDCT_US_2016_09_01:95131005 C0001618 Tumors of adrenal cortex ADRENOCORTICAL NEOPLASM, UNDETERMINED | Adrenal Cortex Neoplasm | Adrenal Cortex Neoplasms | Adrenal Cortex Neoplasms [Disease/Finding] | Adrenal Cortex Tumor | Adrenal cortex--Tumors | Adrenal cortical tumor | Adrenal cortical tumor NOS | Adrenal cortical tumor, NOS | Adrenal cortical tumors NOS | Adrenal cortical tumour | Adrenal cortical tumour (disorder) | Adrenal cortical tumour NOS | Adrenal cortical tumour, NOS | Adrenal cortical tumours NOS | Adrenocortical Neoplasm | Adrenocortical Tumor | Cortical adrenal neoplasia | Neoplasm of adrenal cortex | Neoplasm of adrenal cortex (disorder) | Neoplasm of the adrenal cortex | Neoplasm, Adrenal Cortex | Neoplasms, Adrenal Cortex | Tumor of adrenal cortex | Tumors of Adrenal Cortex | Tumour of adrenal cortex | [M]Adrenal cortical tumor NOS | [M]Adrenal cortical tumors NOS | [M]Adrenal cortical tumors NOS (disorder) | [M]Adrenal cortical tumour NOS | [M]Adrenal cortical tumours NOS | adrenal cortex neoplasm | adrenal cortex neoplasms | adrenal cortex tumor | adrenal cortex tumors | adrenal cortical; tumor | adrenal; cortical, tumor | adrenal; tumor, cortical | neoplasm of adrenal cortex | neoplasm of adrenal cortex (diagnosis) | tumor of adrenal cortex | tumor; adrenal cortical HPO2016_07_04:The presence of a neoplasm of the adrenal cortex. [HPO:probinson] | MSH2017_2016_08_12:Tumors or cancers of the ADRENAL CORTEX. | NCI2016_02D:A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) | NCI2016_CDISC_1602D:A neoplasm of the adrenal cortex in which the malignancy status has not been established. HPO2016_07_04:HP:0100641|MSH2017_2016_08_12:D000306|SNOMEDCT_US_2016_09_01:127022002|SNOMEDCT_US_2016_09_01:18365006|SNOMEDCT_US_2016_09_01:189645007|SNOMEDCT_US_2016_09_01:189648009 C1277259 Pangastritis Pangastritis | Pangastritis (disorder) | pangastritis SNOMEDCT_US_2016_09_01:135830006 C0694550 Recurrent pneumonia PNEUMONIA RECURRENT | Pneumonia recurrent | Pneumonia, recurrent | Pneumonia, recurrent episodes | Recurrent episodes of pneumonia | Recurrent pneumonia | Recurrent pneumonia (disorder) | recurrent pneumonia HPO2016_07_04:An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. [HPO:probinson, pmid:15750465] HPO2016_07_04:HP:0006532|OMIM2016_04_17:MTHU007930|OMIM2016_04_17:MTHU013212|OMIM2016_04_17:MTHU020368|OMIM2016_04_17:MTHU020584|SNOMEDCT_US_2016_09_01:699014000 C2231284 Non-reassuring dysrhythmia non-reassuring dysrhythmia | non-reassuring dysrhythmia (diagnosis) C0178879 Urinary tract obstruction OBSTRUCTIVE UROPATHY | OBSTRUCTIVE UROPATHY, NOS | Obstructive Uropathy | Obstructive uropathy | Obstructive uropathy NOS | Obstructive uropathy, NOS | Obstructive uropathy, unspecified | URINARY OBSTRUCTION | URINARY TRACT OBSTRUCTION | UROPATHY OBSTRUCTIVE | Urinary (tract) obstruction NOS | Urinary Tract Obstruction | Urinary obstruction | Urinary obstruction unspecif | Urinary obstruction unspecif. | Urinary obstruction unspecified | Urinary obstruction unspecified (disorder) | Urinary obstruction, unspecified | Urinary tract obstruction | Urinary tract obstruction (disorder) | Urinary tract obstruction NOS | Urinary tract obstruction, NOS | Uropathy obstructive | obstruction tract urinary | obstruction urinary | obstruction urinary tract | obstruction; urinary | obstructions tract urinary | obstructive uropathies | obstructive uropathy | obstructive uropathy (diagnosis) | obstructive; uropathy | urinary obstruction | urinary obstruction (diagnosis) | urinary tract obstruction | urinary tract obstruction (diagnosis) | urinary; obstruction | uropathy; obstructive NCI2016_02D:Blockage of the normal flow of contents of the urinary tract. | NCI2016_02D:Uropathy that is caused by an impediment to flow in the urinary tract.(NICHD) | NCI2016_CTCAE_1602D:A disorder characterized by blockage of the normal flow of contents of the urinary tract. | NCI2016_NICHD_1602D:An impediment to the flow of urine along the urinary tract. | NCI2016_NICHD_1602D:Uropathy that is caused by an impediment to flow in the urinary tract. ICD10CM_2017:N13.9|ICD9CM_2014:599.6|ICD9CM_2014:599.60|OMIM2016_04_17:MTHU036561|SNOMEDCT_US_2016_09_01:197936002|SNOMEDCT_US_2016_09_01:266567006|SNOMEDCT_US_2016_09_01:266636004|SNOMEDCT_US_2016_09_01:7163005 C0302314 Xanthoma Deposition, xanthomatous | XANTHELASMA | XANTHOMA | Xanthelasma | Xanthelasma (disorder) | Xanthoma | Xanthoma, NOS | Xanthomas | Xanthomata | Xanthomatous Depositions | Xanthomatous deposition | Xanthomatous deposition (morphologic abnormality) | Xanthomatous deposition, NOS | clinical impressions xanthoma | xanthelasma | xanthelasma (physical finding) | xanthelasmas | xanthoma | xanthoma (physical finding) | xanthomas | xanthomata NCI2016_02D:A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. -- 2003 HPO2016_07_04:HP:0001114|MSH2017_2016_08_12:D014973|OMIM2016_04_17:MTHU002064|OMIM2016_04_17:MTHU010541|OMIM2016_04_17:MTHU012701|OMIM2016_04_17:MTHU014013|SNOMEDCT_US_2016_09_01:155180006|SNOMEDCT_US_2016_09_01:238951005|SNOMEDCT_US_2016_09_01:267737009|SNOMEDCT_US_2016_09_01:63103006|SNOMEDCT_US_2016_09_01:6400008|SNOMEDCT_US_2016_09_01:75594004 C3887658 Pulmonary venoocclusive disease 1, autosomal dominant PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT | PVOD | PVOD1 OMIM2016_04_17:265450 C0027947 Neutropenia Disorder characterized by neutropenia | NEUTROPENIA | NEUTROPHILS DECREASED | Neutropenia | Neutropenia (disorder) | Neutropenia (disorder) [Ambiguous] | Neutropenia (finding) | Neutropenia [Disease/Finding] | Neutropenia, NOS | Neutropenia, unspecified | Neutropenias | Neutropenic disorder | Neutropenic disorder (disorder) | neutropenia | neutropenia (diagnosis) CSP2006:decrease in the number of neutrophilic leukocytes in the blood. | MSH2017_2016_08_12:A decrease in the number of NEUTROPHILS found in the blood. ICD10CM_2017:D70|ICD10CM_2017:D70.9|ICD9CM_2014:288.0|ICD9CM_2014:288.00|MSH2017_2016_08_12:D009503|SNOMEDCT_US_2016_09_01:142928004|SNOMEDCT_US_2016_09_01:191336001|SNOMEDCT_US_2016_09_01:303011007|SNOMEDCT_US_2016_09_01:72885007 C1849088 Spinocerebellar ataxia with dysmorphism SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM | Spinocerebellar Ataxia with Dysmorphism MSH2017_2016_08_12:C564802|OMIM2016_04_17:271270 C1336137 Stage ib adenocarcinoma of lung Stage IB Adenocarcinoma of Lung | Stage IB Adenocarcinoma of the Lung | Stage IB Lung Adenocarcinoma | Stage IB Lung Adenocarcinoma AJCC v7 NCI2016_02D:Stage IB includes: T2a, N0, M0. T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.) C4025815 Short diaphyses Short diaphyses | Short shaft of long bone HPO2016_07_04:HP:0000941 C0878576 Posterior leucoencephalopathy syndrome Leukoencephalopathy Syndrome, Posterior | Leukoencephalopathy Syndromes, Posterior | Posterior Leukoencephalopathy Syndrome | Posterior Leukoencephalopathy Syndrome [Disease/Finding] | Posterior leucoencephalopathy syndrome | Syndrome, Posterior Leukoencephalopathy | Syndromes, Posterior Leukoencephalopathy MSH2017_2016_08_12:A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies). MSH2017_2016_08_12:D054038 C2930927 Kallmann syndrome, type 3, recessive Autosomal Recessive Form of Kallmann Syndrome | Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion) | Kallmann Syndrome 3 | Kallmann Syndrome, Type 3, Recessive | Kallmann syndrome, type 3, recessive MSH2017_2016_08_12:D017436 C1970107 Ataxia, spastic, 1, autosomal dominant ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT | Ataxia, Spastic, 1, Autosomal Dominant | SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT | SPAX1 MSH2017_2016_08_12:C566993|OMIM2016_04_17:108600|OMIM2016_04_17:185880 C3899648 Childhood paranasal sinus carcinoma Childhood Paranasal Sinus Carcinoma NCI2016_02D:A rare carcinoma of the paranasal sinus that occurs during childhood. C4025891 Ambiguous genitalia, female Ambiguous genitalia, female HPO2016_07_04:Ambiguous genitalia in an individual with XX genetic gender. [HPO:probinson] HPO2016_07_04:HP:0000061 C0152276 Granulocytic sarcoma CANCER, GREEN | CHLOROLEUKEMIA | CHLOROMA | CHLOROMYELOMA | CHLOROSARCOMA | Chloroma | Chloroma (disorder) | Chloromas | Extramedullary Myeloid Cell Tumor | Extramedullary Myeloid Tumor | Granulocytic Sarcoma | Granulocytic Sarcomas | Granulocytic sarcoma | Granulocytic sarcoma (disorder) | Myeloid Cell Tumor, Extramedullary | Myeloid Sarcoma | Myeloid Sarcomas | Myeloid sarcoma | Myeloid sarcoma NOS | Myeloid sarcoma NOS (disorder) | Myeloid sarcoma, disease | Myeloid sarcoma, disease (disorder) | Myeloid sarcoma, morphology | Myeloid sarcoma, morphology (morphologic abnormality) | Myelosarcoma | SARCOMA, GRANULOCYTIC, MALIGNANT | SARCOMA, MYELOID, MALIGNANT | Sarcoma, Granulocytic | Sarcoma, Myeloid | Sarcoma, Myeloid [Disease/Finding] | Sarcomas, Granulocytic | Sarcomas, Myeloid | [M]Chloroma | [M]Granulocytic sarcoma | [M]Myeloid sarcoma | chloroma | chloroma (diagnosis) | chloromas | granulocytic sarcoma | granulocytic sarcoma (diagnosis) | granulocytic; sarcoma | leukemia myeloid sarcoma | leukemia myeloid sarcoma chloroma | leukemia myeloid sarcoma granulocytic sarcoma | myeloid sarcoma | myeloid sarcoma (diagnosis) | myeloid; sarcoma | myelosarcoma | sarcoma granulocytic | sarcoma; granulocytic | sarcoma; myeloid MSH2017_2016_08_12:An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA. | NCI2016_02D:A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001) | NCI2016_02D:A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001) | NCI2016_CDISC_1602D:A malignant neoplasm composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. | NCI2016_CDISC_1602D:A malignant neoplasm composed of myeloblasts, neutrophils and neutrophil precursors. | NCI2016_NCI-GLOSS_1602D:A malignant, green-colored tumor of myeloid cells (a type of immature white blood cell). This tumor is usually associated with myelogenous leukemia. ICD10CM_2017:C92.3|ICD10CM_2017:C92.30|ICD9CM_2014:205.3|MSH2017_2016_08_12:D023981|SNOMEDCT_US_2016_09_01:188737002|SNOMEDCT_US_2016_09_01:188738007|SNOMEDCT_US_2016_09_01:188739004|SNOMEDCT_US_2016_09_01:35287006|SNOMEDCT_US_2016_09_01:94719007 C0268506 Albinoidism Albinoidism | Albinoidism (disorder) | Albinoidism, NOS OMIM2016_04_17:MTHU014106|SNOMEDCT_US_2016_09_01:52692001 C0085426 Gram-positive bacterial infections Bacterial Infection, Gram-Positive | Bacterial Infections, Gram Positive | Bacterial Infections, Gram-Positive | Gram Positive Bacterial Infections | Gram-Positive Bacterial Infection | Gram-Positive Bacterial Infections | Gram-Positive Bacterial Infections [Disease/Finding] | Gram-positive bacterial infection | Gram-positive bacterial infections | Infection, Gram-Positive Bacterial | Infections, Gram Positive Bacterial | Infections, Gram-Positive Bacterial | gram-positive bacterial infection | gram-positive bacterial infection (diagnosis) | infectious disease - bacterial gram positive MSH2017_2016_08_12:Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method. MSH2017_2016_08_12:D016908 C3695063 Charcot-marie-tooth disease, type 4b3 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 | CMT4B3 | charcot-marie-tooth disease type 4b3 | charcot-marie-tooth disease type 4b3 (diagnosis) OMIM2016_04_17:603560|OMIM2016_04_17:615284 C4024473 Radial deviation of the 4th finger Radial deviation of the 4th finger | Radial deviation of the ring finger | radial deviation of ring finger | radial deviation of ring finger (physical finding) HPO2016_07_04:Displacement of the 4th finger towards the radial side (i.e., towards the thumb). [HPO:sdoelken] HPO2016_07_04:HP:0009279 C1862314 Basal cell nevi Basal cell nevi | Basal cell nevus HPO2016_07_04:HP:0002671|OMIM2016_04_17:MTHU019342 C4024727 Impaired epinephrine-induced platelet aggregation Impaired epinephrine-induced platelet aggregation HPO2016_07_04:Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. [DDD:wouwehand] HPO2016_07_04:HP:0008148 C0035410 Rhabdomyolysis Necrosis of skeletal muscle | Necrosis of skeletal muscle (finding) | RHABDOMYOLYSIS | Rhabdomyolyses | Rhabdomyolysis | Rhabdomyolysis (disorder) | Rhabdomyolysis (morphologic abnormality) | Rhabdomyolysis [Disease/Finding] | Skeletal muscle necrosis | rhabdomyolysis | rhabdomyolysis (diagnosis) CHV2011_02:a potentially fatal disease that destroys skeletal muscle | HPO2016_07_04:Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. [HPO:probinson] | MSH2017_2016_08_12:Necrosis or disintegration of skeletal muscle often followed by myoglobinuria. | NCI2016_02D:A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma. | NCI2016_NICHD_1602D:A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma. HPO2016_07_04:HP:0003201|ICD10CM_2017:M62.82|ICD9CM_2014:728.88|MSH2017_2016_08_12:D012206|OMIM2016_04_17:MTHU036873|SNOMEDCT_US_2016_09_01:156729009|SNOMEDCT_US_2016_09_01:240131006|SNOMEDCT_US_2016_09_01:268106003|SNOMEDCT_US_2016_09_01:89010004 C3280866 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY | THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) | THMD5 OMIM2016_04_17:606370|OMIM2016_04_17:614458 C2985290 Fetal alcohol spectrum disorders FASD | FASDs | Fetal Alcohol Spectrum Disorder | Fetal Alcohol Spectrum Disorder (disorder) | Fetal Alcohol Spectrum Disorders | Foetal Alcohol Spectrum Disorder MSH2017_2016_08_12:An umbrella term used to describe a pattern of disabilities and abnormalities that result from fetal exposure to ETHANOL during pregnancy. It encompasses a phenotypic range that can vary greatly between individuals, but reliably includes one or more of the following: characteristic facial dysmorphism, FETAL GROWTH RETARDATION, central nervous system abnormalities, cognitive and/or behavioral dysfunction, BIRTH DEFECTS. The level of maternal alcohol consumption does not necessarily correlate directly with disease severity. | NCI2016_02D:A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues. MSH2017_2016_08_12:D063647|SNOMEDCT_US_2016_09_01:609437000 C0403472 Acquired cyst of kidney with neoplastic change Acquired renal cyst with neoplastic change | Acquired renal cyst with neoplastic change (disorder) | acquired cyst of kidney with neoplastic change | acquired cyst of kidney with neoplastic change (diagnosis) SNOMEDCT_US_2016_09_01:236441006 C0152115 Lingual-facial-buccal dyskinesia Dyskinesia, Lingual-Facial-Buccal | Dyskinesia, Linguofacial | Dyskinesia, Oral-facial | Dyskinesia, Orofacial | Dyskinesias, Lingual-Facial-Buccal | Dyskinesias, Linguofacial | Dyskinesias, Oral-facial | Dyskinesias, Orofacial | Lingual Facial Buccal Dyskinesia | Lingual-Facial-Buccal Dyskinesia | Lingual-Facial-Buccal Dyskinesias | Linguofacial Dyskinesia | Linguofacial Dyskinesias | OROFACIAL DYSKINESIA | Oral facial Dyskinesia | Oral-facial Dyskinesia | Oral-facial Dyskinesias | Oro-facial dyskinesia | Orofacial Dyskinesia | Orofacial Dyskinesias | Orofacial dyskinesia | Orofacial dyskinesia (disorder) | Orofacial dyskinesias | Tardive Oral Dyskinesia | Tardive Oral Dyskinesias | dyskinesia; orofacial | orofacial dyskinesia | orofacial dyskinesia (diagnosis) | orofacial; dyskinesia HPO2016_07_04:HP:0002310|ICD10CM_2017:G24.4|ICD9CM_2014:333.82|MSH2017_2016_08_12:D020820|OMIM2016_04_17:MTHU036693|OMIM2016_04_17:MTHU038964|SNOMEDCT_US_2016_09_01:155007009|SNOMEDCT_US_2016_09_01:192861006|SNOMEDCT_US_2016_09_01:267689009|SNOMEDCT_US_2016_09_01:49386006 C1867060 Lacrimal puncta, absence of Absent lacrimal gland puncta | Absent lacrimal openings | Absent lacrimal puncta | Absent lacrimal punctum | Aplasia of lacrimal puncta | LACRIMAL PUNCTA, ABSENCE OF | Lacrimal Puncta, Absence of | Lacrimal puncta aplasia | Lacrimal punctum, absence HPO2016_07_04:No identifiable superior and/or inferior lacrimal punctum. [pmid:19125427] HPO2016_07_04:HP:0001092|MSH2017_2016_08_12:C566703|OMIM2016_04_17:149700|OMIM2016_04_17:MTHU012065|OMIM2016_04_17:MTHU018484|OMIM2016_04_17:MTHU020563|OMIM2016_04_17:MTHU020945 C0013882 Elephantiasis ELEPHANTIASIS | Elephantiases | Elephantiasis | Elephantiasis NOS | Elephantiasis [Disease/Finding] | elephantiases | elephantiasis | lymphostatic elephantiasis | stage III lymphedema MSH2017_2016_08_12:Hypertrophy and thickening of tissues from causes other than filarial infection, the latter being described as ELEPHANTIASIS, FILARIAL. | NCI2016_NCI-GLOSS_1602D:A condition in which tissue or a limb becomes very swollen and thick, and changes color. It is caused by a block in the flow of lymph and a buildup of fluid in tissues. MSH2017_2016_08_12:D004604|SNOMEDCT_US_2016_09_01:155485008|SNOMEDCT_US_2016_09_01:240820001|SNOMEDCT_US_2016_09_01:266334008 C4225168 Mental retardation, autosomal recessive 52 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 | MRT52 OMIM2016_04_17:616887 C2118396 Fetal tachycardia during labor fetal tachycardia during labor | fetal tachycardia during labor (diagnosis) C0002351 Altitude sickness ALTITUDE SICKNESS | ANOXIA, ALTITUDE | Adverse effect;altitude | Alpine sickness | Altitude Sickness | Altitude Sickness [Disease/Finding] | Altitude anoxia | Altitude sickness | Andes disease | Anoxia caused by high altitude | Anoxia caused by high altitude (disorder) | Anoxia due to high altitude | Anoxia due to high altitude (disorder) | Effects of high altitude | Effects of high altitude (disorder) | Effects of high altitude, NOS | HIGH ALTITUTE SICKNESS | Hypobaropathy | Hypobaropathy NOS | Hypobaropathy NOS (disorder) | Illnesses due to high altitude effects | Mountain sickness | Sickness, Altitude | alpine sickness | altitude effects high | altitude sickness | disease (or disorder); alpine | effects of high altitude | effects of; high altitude | high altitude effects | high altitude; effects | high altitute sickness | hypobaric sickness | hypobaropathy | mountain sickness MSH2017_2016_08_12:Multiple symptoms associated with reduced oxygen at high ALTITUDE. ICD10CM_2017:T70.29|MSH2017_2016_08_12:D000532|SNOMEDCT_US_2016_09_01:212950008|SNOMEDCT_US_2016_09_01:42883007|SNOMEDCT_US_2016_09_01:87284002 C4067664 Attention deficit conduct and disruptive behavior disorders Attention deficit conduct and disruptive behavior disorders | Attention-deficit conduct and disruptive behavior disorders C1857038 Ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality EDS X | EDS10 | EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN ABNORMALITY | EHLERS-DANLOS SYNDROME, DYSFIBRONECTINEMIC TYPE | EHLERS-DANLOS SYNDROME, TYPE X | Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality | Ehlers-Danlos Syndrome, Dysfibronectinemic Type | Ehlers-Danlos Syndrome, Type X | FN ABNORMALITY MSH2017_2016_08_12:C565600|OMIM2016_04_17:225310 C0016395 Focal dermal hypoplasia DHOF | Dermal Hypoplasia, Focal | Dermal Hypoplasias, Focal | FDH | FDH - Focal dermal hypoplasia | FOCAL DERMAL HYPOPLASIA | FOCAL DERMAL HYPOPLASIA SYNDROME | FODH | FODH - Focal dermal hypoplasia | Focal Dermal Hypoplasia | Focal Dermal Hypoplasia [Disease/Finding] | Focal Dermal Hypoplasias | Focal dermal hypoplasia | Focal dermal hypoplasia (disorder) | Focal dermal hypoplasia syndrome | Focal facial dermal dysplasia | GOLTZ SYNDROME | GOLTZ-GORLIN SYNDROME | Goltz Gorlin Syndrome | Goltz Gorlin syndrome | Goltz Syndrome | Goltz syndrome | Goltz syndrome (disorder) | Goltz's Syndrome | Goltz's syndrome | Goltz-Gorlin (dermal hypoplasia) syndrome | Goltz-Gorlin Syndrome | Goltz-Gorlin syndrome | Goltz-Peterson-Gorlin-Ravitz syndrome | Goltzs Syndrome | Gorlin Syndrome, Goltz | Hypoplasia, Focal Dermal | Hypoplasias, Focal Dermal | Jessner-Cole syndrome | Liebermann-Cole syndrome | Syndrome, Goltz | Syndrome, Goltz Gorlin | Syndrome, Goltz's | Syndrome, Goltz-Gorlin | dermal focal hypoplasia | ectodermal and mesodermal dysplasia with osseous involvement | focal dermal hypoplasia | focal dermal hypoplasia (FDH) syndrome | focal dermal hypoplasia syndrome | focal; dermal hypoplasia | focal; hypoplasia, dermal | goltz gorlin syndrome | goltz syndrome | goltz-gorlin syndrome | hypoplasia; focal dermal JABL99:Multiple abnormalities with a variable expression consisting mainly of asymmetry of the face, trunk, and extremities; atrophy, telangiectasia, pigmentation disorders, and localized fat deposits in the skin; multiple mucous and perioral papillomas; and skeletal abnormalities involving the extremities. Mild mental deficiency occurs in about 15%. | MSH2017_2016_08_12:A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait. | NCI2016_02D:A genetic multisystem disorder caused by mutations in the PORCN gene. It is characterized by atrophy and hypoplasia of skin, eye defects, face defects, skeletal abnormalities, and limb malformations. MSH2017_2016_08_12:D005489|OMIM2016_04_17:300651|OMIM2016_04_17:305600|SNOMEDCT_US_2016_09_01:205573006|SNOMEDCT_US_2016_09_01:2298005 C1834870 Mirror movements 1 BIMANUAL SYNERGIA | MIRROR MOVEMENTS 1 | MIRROR MOVEMENTS, CONGENITAL | MRMV1 OMIM2016_04_17:120470|OMIM2016_04_17:157600 C0085138 Choroid plexus neoplasms Choroid Plexus Neoplasm | Choroid Plexus Neoplasms | Choroid Plexus Neoplasms [Disease/Finding] | Choroid Plexus Tumor | Choroid Plexus Tumors | Neoplasm of Choroid Plexus | Neoplasm of the Choroid Plexus | Neoplasm, Choroid Plexus | Neoplasms, Choroid Plexus | Tumor of Choroid Plexus | Tumor of choroid plexus | Tumor of choroid plexus (disorder) | Tumor of the Choroid Plexus | Tumour of choroid plexus | choroid plexus tumor MSH2017_2016_08_12:Benign or malignant tumors which arise from the choroid plexus of the ventricles of the brain. Papillomas (see PAPILLOMA, CHOROID PLEXUS) and carcinomas are the most common histologic subtypes, and tend to seed throughout the ventricular and subarachnoid spaces. Clinical features include headaches, ataxia and alterations of consciousness, primarily resulting from associated HYDROCEPHALUS. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072; J Neurosurg 1998 Mar;88(3):521-8) | NCI2016_02D:An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma. | NCI2016_NCI-GLOSS_1602D:A rare type of cancer that occurs in the ventricles of the brain. It usually occurs in children younger than 2 years. MSH2017_2016_08_12:D016545|SNOMEDCT_US_2016_09_01:254942002 C0013371 Shigella infections Dysenteries, Shigella | Dysentery, Shigella | Flexner's dysentery | Flexner; dysentery | GASTROENTERITIS SHIGELLA | Gastroenteritis shigella | Infection by Shigella | Infection by Shigella (disorder) | Infection caused by Shigella | Infection caused by Shigella (disorder) | Japanese dysentery | SHIGA-KRUSE DISEASE | SHIGELLOSES | SHIGELLOSIS | Shigella | Shigella Dysenteries | Shigella Dysentery | Shigella Infections | Shigella dysentery | Shigella gastroenteritis | Shigella infection | Shigella infections | Shigella; dysentery | Shigella; infection | Shigellosis | Shigellosis (disorder) | Shigellosis NOS | Shigellosis NOS (disorder) | Shigellosis, NOS | Shigellosis, unspecified | [X]Shigellosis, unspecified | [X]Shigellosis, unspecified (disorder) | bacillary; dysentery, Shigella | dysentery; Flexner | dysentery; Shigella | dysentery; bacillary, Shigella | infection; Shigella | shigella | shigella dysentery | shigella infection | shigellas | shigellosis | shigellosis (diagnosis) ICD10CM_2017:A03|ICD10CM_2017:A03.9|ICD9CM_2014:004|ICD9CM_2014:004.9|MSH2017_2016_08_12:D004405|SNOMEDCT_US_2016_09_01:111817006|SNOMEDCT_US_2016_09_01:154272001|SNOMEDCT_US_2016_09_01:186108001|SNOMEDCT_US_2016_09_01:187272003|SNOMEDCT_US_2016_09_01:266175007|SNOMEDCT_US_2016_09_01:36188001 C1855335 Hypoplastic bladder Bladder hypoplasia | Hypoplasia of the bladder | Hypoplastic bladder | Underdeveloped bladder HPO2016_07_04:Underdevelopment of the urinary bladder. [HPO:probinson] HPO2016_07_04:HP:0005343|OMIM2016_04_17:MTHU011723|OMIM2016_04_17:MTHU041642 C0086795 Pfaundler-hurler syndrome Disease, Hurler's | Disease;Hurlers | Dysostosis multiplex | Dysostosis multiplex (disorder) | Dysostosis multiplex syndrome | Ellis-Sheldon syndrome | GARGOYLISM | Gargoylism | Gargoylism, Hurler Syndrome | Gargoylisms | HURLER | HURLER SYNDROME | Hurler | Hurler Disease | Hurler Syndrome | Hurler Syndrome Gargoylism | Hurler disease | Hurler disease MPS type 1H | Hurler syndrome | Hurler's Disease | Hurler's Syndrome | Hurler's disease | Hurler's syndrome | Hurler-Pfaundler syndrome | Hurlers disease | Johnie McL syndrome | L-iduronidase deficiency, Hurler type | L-iduronidase deficiency, NOS | Lipochondrodystrophy | MPS 1-H - Mucopolysaccharidosis type I-H | MPS I H | MPS1-H | MUCOPOLYSACCHARIDOSIS TYPE IH | Mucopolysaccharidosis Type IH | Mucopolysaccharidosis Type Ih | Mucopolysaccharidosis Type Ihs | Mucopolysaccharidosis type I severe form | Mucopolysaccharidosis type I-H | Mucopolysaccharidosis type I-H (disorder) | Mucopolysaccharidosis, MPS-I-H | Mucopolysaccharidosis, MPS-I-H (disorder) | Pfaundler-Hurler Syndrome | Pfaundler-Hurler syndrome | Syndrome, Hurler's | Thompson syndrome | Type Ih, Mucopolysaccharidosis | Type Ihs, Mucopolysaccharidosis | chondro-osteodystrophy-corneal | dysostosis; multiplex | dysostotic idiocy-gargoylism-lipochondrodystrophy syndrome | gargoyle syndrome | gargoyle syndrome (diagnosis) | gargoylism | hurler | hurler disease | hurler syndrome | hurler's disease | hurler's syndrome | hurlers | hurlers disease | hurlers syndrome | lipochondrodystrophy | mucopolysaccharidosis type 1H (Hurler) | multiplex; dysostosis | opacities-hepatosplenomegaly mental deficiency syndrome | thompson syndrome | type I-H mucopolysaccharidosis | type I-H mucopolysaccharidosis (diagnosis) NCI2016_02D:An autosomal recessive inherited disorder of mucopolysaccharide metabolism. It is the most severe form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase resulting in the accumulation of mucopolysaccharides in the tissues. HPO2016_07_04:HP:0000943|ICD10CM_2017:E76.01|MSH2017_2016_08_12:D008059|OMIM2016_04_17:252800|OMIM2016_04_17:607014|OMIM2016_04_17:MTHU007185|SNOMEDCT_US_2016_09_01:190936000|SNOMEDCT_US_2016_09_01:190938004|SNOMEDCT_US_2016_09_01:254069004|SNOMEDCT_US_2016_09_01:65327002|SNOMEDCT_US_2016_09_01:75610003 C0035411 Rhabdomyoma Myoma striocellulare | RHABDOMYOMA, BENIGN | Rhabdomyoma | Rhabdomyoma (disorder) | Rhabdomyoma NOS | Rhabdomyoma [Disease/Finding] | Rhabdomyoma, NOS | Rhabdomyoma, no ICD-O subtype | Rhabdomyoma, no ICD-O subtype (morphologic abnormality) | Rhabdomyoma, no International Classification of Diseases for Oncology subtype | Rhabdomyoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) | Rhabdomyomas | Rhabdomyomatous Neoplasm | Rhabdomyomatous neopl.NOS | Rhabdomyomatous neoplasm | Rhabdomyomatous neoplasm (disorder) | Rhabdomyomatous neoplasm NOS | Rhabdomyomatous neoplasms | [M]Rhabdomyoma NOS | [M]Rhabdomyoma NOS (morphologic abnormality) | [M]Rhabdomyomatous neopl.NOS | [M]Rhabdomyomatous neoplasm NOS | [M]Rhabdomyomatous neoplasm NOS (morphologic abnormality) | [M]Rhabdomyomatous neoplasms | [M]Rhabdomyomatous neoplasms (morphologic abnormality) | rhabdomyoma | rhabdomyomas HPO2016_07_04:A benign tumor of striated muscle. [HPO:probinson] | MSH2017_2016_08_12:A benign tumor derived from striated muscle. It is extremely rare, generally occurring in the tongue, neck muscles, larynx, uvula, nasal cavity, axilla, vulva, and heart. These tumors are treated by simple excision. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354) | NCI2016_02D:A benign mesenchymal tumor arising from skeletal or cardiac muscle. | NCI2016_CDISC_1602D:A benign neoplasm arising from skeletal or cardiac muscle, characterized by the presence of rhabdomyoblasts. HPO2016_07_04:HP:0009730|MSH2017_2016_08_12:D012207|SNOMEDCT_US_2016_09_01:134165004|SNOMEDCT_US_2016_09_01:189798004|SNOMEDCT_US_2016_09_01:189800006|SNOMEDCT_US_2016_09_01:302846007|SNOMEDCT_US_2016_09_01:402877008|SNOMEDCT_US_2016_09_01:43375002 C1266090 Hepatoid adenocarcinoma Hepatoid Adenocarcinoma | Hepatoid Carcinoma | Hepatoid adenocarcinoma | Hepatoid adenocarcinoma (morphologic abnormality) | Hepatoid carcinoma NCI2016_02D:An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. SNOMEDCT_US_2016_09_01:128706007 C3898125 Non-secretory multiple myeloma Non-Secretory Multiple Myeloma | Non-Secretory Plasma Cell Myeloma NCI2016_02D:A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine. C3897124 Bclc stage a hepatocellular carcinoma BCLC Stage A Hepatocellular Carcinoma | Barcelona Clinic Liver Cancer Stage A Hepatocellular Carcinoma NCI2016_02D:Early hepatocellular carcinoma. Patients are candidates for radical therapies (resection, liver transplantation, or percutaneous treatments). (HPB (Oxford) 2005; 7(1):35-41) C1862162 Brachydactyly preaxial with hallux varus and thumb abduction BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION | Brachydactyly preaxial with hallux varus and thumb abduction | Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction | CHRISTIAN BRACHYDACTYLY | Christian Brachydactyly | Dominant preaxial brachydactyly with hallux varus and thumb abduction MSH2017_2016_08_12:C537087|OMIM2016_04_17:112450 C4280423 Small condylar neck of mandible Small condylar neck of mandible HPO2016_07_04:HP:0007628 C0033774 Pruritus ITCHING | Irritating sensation | Irritation - sensation | Itch | Itch NOS | Itch of skin | Itch of skin (observable entity) | Itch of skin, NOS | Itching | Itching (finding) | Itching (pruritus) | Itching of skin | Itching of skin (finding) | Itching;skin | Itchy | Itchy skin | PRURITIC DISORDER | PRURITIS | PRURITUS | Pruritic Disorder | Pruritic dermatitis | Pruritic dermatitis, NOS | Pruritic disorder | Pruritic disorders | Pruritic disorders (disorder) | Pruritis | Pruritis (excluding D05 X16) | Pruritus | Pruritus (disorder) | Pruritus (finding) | Pruritus - disorder | Pruritus NOS | Pruritus NOS (disorder) | Pruritus [Ambiguous] | Pruritus [Disease/Finding] | Pruritus [dup] (finding) | Pruritus cutaneous | Pruritus of skin | Pruritus of skin (finding) | Pruritus of skin (finding) [Ambiguous] | Pruritus of skin, NOS | Pruritus, NOS | Pruritus, unspecified | Pruritus;skin | Scratching skin | Skin Pruritus | Unspecified pruritic disorder | [X]Pruritus, unspecified | [X]Pruritus, unspecified (disorder) | itch | itch skin | itching | itching (pruritus) | itching skin | itchy | itchy skin | pruritic dermatitis | pruritis | pruritis of skin | pruritus | pruritus (diagnosis) | pruritus (symptom) | skin itch | skin itching CSP2006:intense itching sensation that produces the urge to rub or scratch the skin to obtain relief. | HPO2016_07_04:Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. [HPO:probinson] | MEDLINEPLUS_20151021:Itching is skin tingling or irritation that makes you want to scratch the itchy area. It's a symptom of many health conditions. Common causes are
To soothe itchy skin, you can try cold compresses, lotions and lukewarm baths. Avoid scratching, wearing irritating fabrics and high heat and humidity. Most itching is not serious. However, if you itch all over, have hives that keep coming back or have itching without an apparent cause, you might require medical attention.
| MSH2017_2016_08_12:An intense itching sensation that produces the urge to rub or scratch the skin to obtain relief. | NCI2016_02D:A skin disorder characterized by an intense itching sensation. | NCI2016_02D:An intense itching sensation. | NCI2016_CTCAE_1602D:A disorder characterized by an intense itching sensation. | NCI2016_NCI-GLOSS_1602D:Itching. Severe itching may be a side effect of some cancer treatments and a symptom of some types of cancers. | NCI2016_NICHD_1602D:An itching sensation. HPO2016_07_04:HP:0000989|ICD10CM_2017:L29|ICD10CM_2017:L29.9|ICD9CM_2014:698.9|MSH2017_2016_08_12:D011537|OMIM2016_04_17:MTHU037280|OMIM2016_04_17:MTHU039444|OMIM2016_04_17:MTHU041455|SNOMEDCT_US_2016_09_01:156380008|SNOMEDCT_US_2016_09_01:183758005|SNOMEDCT_US_2016_09_01:201027005|SNOMEDCT_US_2016_09_01:201371004|SNOMEDCT_US_2016_09_01:267804004|SNOMEDCT_US_2016_09_01:271588004|SNOMEDCT_US_2016_09_01:279333002|SNOMEDCT_US_2016_09_01:32738000|SNOMEDCT_US_2016_09_01:367516003|SNOMEDCT_US_2016_09_01:418290006|SNOMEDCT_US_2016_09_01:418363000|SNOMEDCT_US_2016_09_01:424492005|SNOMEDCT_US_2016_09_01:78934009 C1842937 Aural atresia, congenital AURAL ATRESIA, CONGENITAL | AURAL ATRESIA, CONGENITAL, WITH HYPOSMIA | Aural Atresia, Congenital | CAA | Caa | Congenital aural atresia MSH2017_2016_08_12:C564321|OMIM2016_04_17:607842|OMIM2016_04_17:614427|OMIM2016_04_17:MTHU025415 C0405077 Other preg.vomiting-delivered Other preg.vomiting-delivered | Other pregnancy vomiting - delivered | Other pregnancy vomiting - delivered (disorder) SNOMEDCT_US_2016_09_01:199037004 C3495587 Night blindness, congenital stationary, type 1a CSNB, COMPLETE, X-LINKED | CSNB, Complete, X-Linked | CSNB1A | HEMERALOPIA-MYOPIA | Hemeralopia-myopia | MYOPIA-NIGHT BLINDNESS | Myopia-night blindness | NBM1 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A | NIGHT BLINDNESS, CONGENITAL STATIONARY, WITH MYOPIA | Night Blindness, Congenital Stationary, Type 1A | Night blindness, congenital stationary, with myopia | congenital stationary night blindness - type 1a | congenital stationary night blindness - type 1a (diagnosis) MSH2017_2016_08_12:C536122|OMIM2016_04_17:300278|OMIM2016_04_17:310500 C0746674 Generalized muscle weakness Generalised muscle weakness | Generalized Muscle Weakness | Generalized muscle weakness | Generalized weakness | MUSCLE WEAKNESS GENERALIZED | Muscle weakness (generalized) | Muscle weakness, diffuse | Muscle weakness, generalized | generalized muscle weakness | generalized muscle weakness (symptom) HPO2016_07_04:Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. [HPO:probinson] | NCI2016_02D:A reduction in the strength of muscles in multiple anatomic sites. | NCI2016_CTCAE_1602D:A disorder characterized by a reduction in the strength of muscles in multiple anatomic sites. HPO2016_07_04:HP:0003324|ICD10CM_2017:M62.81|ICD9CM_2014:728.87|OMIM2016_04_17:MTHU001545|OMIM2016_04_17:MTHU003216|OMIM2016_04_17:MTHU010743 C0426747 Anal bleeding ANAL BLEEDING | Anal Hemorrhage | Anal bleeding | Anal haemorrhage | Anal hemorrhage | Anal hemorrhage (disorder) | Bleeding from anus | Bleeding from anus (disorder) | Haemorrhage of anus | Hemorrhage of anus | anal bleed | anal bleeding | anal hemorrhage | anal hemorrhage (diagnosis) | anus bleed | anus bleeding | anus; hemorrhage | bleeding anal | bleeding anus | bleeding from anus | hemorrhage; anus NCI2016_02D:Bleeding originating from the anal area. | NCI2016_CTCAE_1602D:A disorder characterized by bleeding from the anal region. SNOMEDCT_US_2016_09_01:197221005|SNOMEDCT_US_2016_09_01:6072007 C4020843 Abnormal urinary amino-acid findings Abnormal urinary amino-acid findings HPO2016_07_04:HP:0003355 C1855626 Ketoadipicaciduria KETOADIPICACIDURIA | Ketoadipicaciduria MSH2017_2016_08_12:C565453|OMIM2016_04_17:245130 C0014118 Endocarditis ENDOCARDITIDES | ENDOCARDITIS | Endocarditides | Endocarditis | Endocarditis (disorder) | Endocarditis NOS | Endocarditis [Disease/Finding] | Endocarditis, NOS | endocarditis | endocarditis (diagnosis) | inflammation of the heart valve CSP2006:exudative and proliferative inflammatory alterations of the endocardium, characterized by the presence of vegetations on the surface of the endocardium or in the endocardium itself, and most commonly involving a heart valve, but sometimes affecting the inner lining of the cardiac chambers or the endocardium elsewhere; may occur as a primary disorder or as a complication of or in association with another disease. | HPO2016_07_04:An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. [HPO:sdoelken] | MEDLINEPLUS_20151021:Endocarditis, also called infective endocarditis (IE), is an inflammation of the inner lining of the heart. The most common type, bacterial endocarditis, occurs when germs enter your heart. These germs come through your bloodstream from another part of your body, often your mouth. Bacterial endocarditis can damage your heart valves. If untreated, it can be life-threatening. It is rare in healthy hearts.
Risk factors include having
The signs and symptoms of IE can vary from person to person. They also can vary over time in the same person. Symptoms you might notice include fever, shortness of breath, fluid buildup in your arms or legs, tiny red spots on your skin, and weight loss. Your doctor will diagnose IE based on your risk factors, medical history, signs and symptoms, and lab and heart tests.
Early treatment can help you avoid complications. Treatment usually involves high-dose antibiotics. If your heart valve is damaged, you may need surgery.
If you're at risk for IE, brush and floss your teeth regularly, and have regular dental checkups. Germs from a gum infection can enter your bloodstream. If you are at high risk, your doctor might prescribe antibiotics before dental work and certain types of surgery.
NIH: National Heart, Lung, | MSH2017_2016_08_12:Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening. | NCI2016_02D:Inflammation of the endocardium. | NCI2016_NICHD_1602D:Inflammation of the endocardium. HPO2016_07_04:HP:0100584|MSH2017_2016_08_12:D004696|SNOMEDCT_US_2016_09_01:56819008 C4021560 Posterior y-sutural cataract Posterior Y-sutural cataract | Posterior Y-sutural cataracts HPO2016_07_04:A type of sutural cataract in which the opacity follows the posterior Y suture. [HPO:probinson] HPO2016_07_04:HP:0008031 C0154088 Carcinoma in situ of prostate Adenocarcinoma in situ of Prostate | Adenocarcinoma in situ of the Prostate | CIS (Carcinoma in situ) of prostate | CIS - Carcinoma in situ of prostate | Cancer in situ of prostate | Carcinoma in situ of prostate | Carcinoma in situ of prostate (disorder) | Grade 3 PIN | Grade 3 Prostatic Intraepithelial Neoplasia | Grade III PIN | Grade III Prostatic Intraepithelial Neoplasia | PIN III | Prostate Adenocarcinoma in situ | Prostatic intraepithelial neoplasia, grade III | carcinoma in situ of prostate gland | carcinoma in situ of prostate gland (diagnosis) NCI2016_02D:High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities. ICD10CM_2017:D07.5|ICD9CM_2014:233.4|SNOMEDCT_US_2016_09_01:128640002|SNOMEDCT_US_2016_09_01:92691004 C1853102 Cerebrooculofacioskeletal syndrome 2 CEREBROOCULOFACIOSKELETAL SYNDROME 2 | COFS2 | Cerebrooculofacioskeletal Syndrome 2 MSH2017_2016_08_12:C565185|OMIM2016_04_17:610756 C0263390 Papular mucinosis Arndt-Gottron syndrome | Lichen Myxedematosus | Lichen myxedematosus | Lichen myxedematosus (disorder) | Lichen myxoedematosus | Lichenoid myxedema | Lichenoid myxoedema | Mucinosis, Papular | Myxedematosus, Lichen | Papular Mucinosis | Papular mucinosis | Scleromyxedema | Scleromyxedema (disorder) | Scleromyxedema [Disease/Finding] | Scleromyxoedema | lichen myxedematosus | lichen; myxedematosus | myxedematosus; lichen | papular mucinosis | scleromyxedema | scleromyxedema (diagnosis) MSH2017_2016_08_12:A connective tissue disorder characterized by widespread thickening of SKIN with a cobblestone-like appearance. It is caused by proliferation of FIBROBLASTS and deposition of MUCIN in the DERMIS in the absence of thyroid disease. Most scleromyxedema cases are associated with a MONOCLONAL GAMMOPATHY, immunoglobulin IgG-lambda. | NCI2016_02D:A rare chronic and progressive skin disorder characterized by mucin deposition in the skin, resulting in the thickening and hardening of the skin, predominantly in the face, fingers, and extremities. ICD10CM_2017:L98.5|MSH2017_2016_08_12:D053718|SNOMEDCT_US_2016_09_01:111197009|SNOMEDCT_US_2016_09_01:402468007 C4020739 Respiratory complex i deficiency Respiratory complex I deficiency HPO2016_07_04:HP:0011923 C3887640 Astrocytosis Astrocytic cell proliferation | Astrocytosis | Astrogliosis | Increase in astrocyte number | astrocytosis HPO2016_07_04:Proliferation of astrocytes in the area of a lesion of the central nervous system. [HPO:probinson] HPO2016_07_04:HP:0002446|MSH2017_2016_08_12:D005911|OMIM2016_04_17:MTHU006303|OMIM2016_04_17:MTHU016237|SNOMEDCT_US_2016_09_01:81415000 C3806644 Lower limb muscle hypotrophy Lower limb muscle hypotrophy HPO2016_07_04:HP:0008944|OMIM2016_04_17:MTHU042246 C0008924 Cleft lip CL - Cleft lip | CLEFT LIP | Cheiloschisis | Cheiloschisis of upper lip | Cleft Lip | Cleft Lip [Disease/Finding] | Cleft Lips | Cleft lip | Cleft lip (disorder) | Cleft lip NOS | Cleft lip NOS (disorder) | Cleft lip, NOS | Cleft lip, unspecified | Cleft lip, unspecified (disorder) | Cleft of upper lip | Cleft upper lip | Congenital fissure of lip | HARELIP | Hare lip | Harelip | Harelips | LIP CLEFT | Labium leporinum | Lip cleft | Lip, Cleft | Lips, Cleft | cheiloschisis | cleft lip | cleft lip (diagnosis) | cleft lip (physical finding) | cleft; lip | hare lip | harelip | labium leporinum | lip; cleft | lip; fissure, congenital CSP2006:congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences; thought to be caused by faulty migration of the mesoderm in the head region. | HPO2016_07_04:A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. [HPO:probinson] | MSH2017_2016_08_12:Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region. | NCI2016_02D:A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse. | NCI2016_CDISC_1602D:Fissure or split of the upper lip. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) HPO2016_07_04:HP:0000204|ICD10CM_2017:Q36|ICD10CM_2017:Q36.9|ICD9CM_2014:749.1|ICD9CM_2014:749.10|MSH2017_2016_08_12:D002971|OMIM2016_04_17:MTHU036343|SNOMEDCT_US_2016_09_01:156941008|SNOMEDCT_US_2016_09_01:204606000|SNOMEDCT_US_2016_09_01:204609007|SNOMEDCT_US_2016_09_01:80281008 C0040247 Tinea Dermatophytoses | Dermatophytosis | Dermatophytosis-tinea/ringworm | Microsporic tinea | Microsporic tinea NOS | Microsporic tinea, NOS | Ringworm | Ringworm NOS | Ringworm, NOS | TINEA | TINEA INFECTION | Tinea | Tinea Infection | Tinea Infections | Tinea NOS | Tinea [Disease/Finding] | Tinea infection | Tinea infection NOS | Tinea infections | Tinea, NOS | Tineas | infection tinea | ringworm | ringworms | tinea | tinea infection | tinea infections | tinea; microsporic | tineas CSP2006:general term describing various dermatophytoses; specific types include tinea capitis (ringworm of the scalp), tinea favosa (of scalp and skin), tinea pedis (athlete's foot), and tinea unguium (ringworm of the nails). | MEDLINEPLUS_20151021:
Tinea is the name of a group of diseases caused by a fungus. Types of tinea include ringworm, athlete's foot and jock itch. These infections are usually not serious, but they can be uncomfortable. You can get them by touching an infected person, from damp surfaces such as shower floors, or even from a pet.
Symptoms depend on the affected area of the body:
Over-the-counter creams and powders will get rid of many tinea infections, particularly athlete's foot and jock itch. Other cases require prescription medicine.
| MSH2017_2016_08_12:Fungal infection of keratinized tissues such as hair, skin and nails. The main causative fungi include MICROSPORUM; TRICHOPHYTON; and EPIDERMOPHYTON. | NCI2016_02D:A skin infection caused by a fungus. | NCI2016_NICHD_1602D:A skin infection caused by a fungus. ICD10CM_2017:B35.9|MSH2017_2016_08_12:D014005|SNOMEDCT_US_2016_09_01:154394006|SNOMEDCT_US_2016_09_01:186984003|SNOMEDCT_US_2016_09_01:266214005|SNOMEDCT_US_2016_09_01:47382004 C0521497 Injection site disorders INJECTION SITE DISORDERS | Injection site disorder | Injection site disorder (disorder) | Injection site disorder, NOS | injection site disorder (diagnosis) SNOMEDCT_US_2016_09_01:95376002 C4025838 Abnormality of the pharynx Abnormality of the pharynx HPO2016_07_04:An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. [HPO:probinson] HPO2016_07_04:HP:0000600 C1849577 Neck pterygia Neck pterygia | Neck pterygium HPO2016_07_04:Pterygia affecting the neck. [HPO:curators] HPO2016_07_04:HP:0009759|OMIM2016_04_17:MTHU009865 C1843075 Charcot-marie-tooth disease, dominant intermediate d CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D | CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D | CMTDID | Charcot-Marie-Tooth Disease, Dominant Intermediate D | Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D | DI-CMTD MSH2017_2016_08_12:C564333|OMIM2016_04_17:159440|OMIM2016_04_17:607791 C1832845 Usher syndrome, type id USH1D | USHER SYNDROME, TYPE ID | Usher Syndrome, Type ID MSH2017_2016_08_12:C563400|OMIM2016_04_17:601067|OMIM2016_04_17:605516 C1305882 Bone neoplasm, malignant - vertebral column lumbar primary Primary malignant neoplasm of lumbar vertebral column | Primary malignant neoplasm of lumbar vertebral column (disorder) | bone neoplasm, malignant - vertebral column lumbar primary | primary malignant neoplasm of lumbar vertebral column | primary malignant neoplasm of lumbar vertebral column (diagnosis) SNOMEDCT_US_2016_09_01:93878007 C3149566 Deafness, autosomal dominant, without vestibular involvement DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT OMIM2016_04_17:606351|OMIM2016_04_17:609006 C0234028 Hypererotism, male Hypererotism, male | Male hypererotism | Male hypererotism (finding) SNOMEDCT_US_2016_09_01:37083002 C0017551 Gilbert disease (disorder) Arias Type Hyperbilirubinemia | Arias Type Hyperbilirubinemias | Benign unconjugated bilirubinaemia syndrome | Benign unconjugated bilirubinemia syndrome | Cholaemia familiaris simplex | Cholemia familiaris simplex | Chronic intermittent juvenile jaundice | Congenital familial cholaemia | Congenital familial cholemia | Constitutional Liver Dysfunction | Constitutional hepatic dysfunction | Constitutional hepatic dysfunction syndrome | Constitutional hyperbilirubinemia | Disease, Gilbert | Disease, Gilbert's | Disease;Gilberts | Familial Nonhemolytic Jaundice | Familial non-hemolytic jaundice | Familial nonhaemolytic bilirubinaemia | Familial nonhaemolytic jaundice | Familial nonhemolytic bilirubinemia | Familial nonhemolytic jaundice | GILBERT DISEASE | GILBERT SYNDROME | GILBERT'S DISEASE | GILBERT-LEREBOULLET SYNDROME | GILBERTS SYNDROME | Gilbert | Gilbert Disease | Gilbert Disease (disorder) | Gilbert Disease [Disease/Finding] | Gilbert Syndrome | Gilbert syndrome | Gilbert's Disease | Gilbert's Syndrome | Gilbert's disease | Gilbert's syndrome | Gilbert's syndrome (diagnosis) | Gilbert's syndrome (disorder) | Gilbert-Lereboullet Syndrome | Gilbert-Lereboullet syndrome | Gilbert; cholemia | Gilberts Disease | Gilberts Syndrome | Gilberts disease | Gilberts syndrome | HBLRG | HYPERBILIRUBINEMIA I | HYPERBILIRUBINEMIA, ARIAS TYPE | HYPERBILIRUBINEMIA, CHRONIC UNCONJUGATED | HYPERBILIRUBINEMIA, FAMILIAL UNCONJUGATED | HYPERBILIRUBINEMIA, GILBERT TYPE | Hereditary nonhaemolytic jaundice | Hereditary nonhemolytic jaundice | Hyperbilirubinemia 1 | Hyperbilirubinemia 1s | Hyperbilirubinemia I | Hyperbilirubinemia, Arias Type | Hyperbilirubinemia, constitutional | Hyperbilirubinemia, unconjugated, chronic non-hemolytic | Hyperbilirubinemias, Arias Type | Jaundice, congenital nonhemolytic | Low-grade chronic hyperbilirubinaemia syndrome | Low-grade chronic hyperbilirubinemia syndrome | Meulengracht Syndrome | Meulengracht syndrome | Syndrome, Gilbert | Syndrome, Gilbert's | Unconjugated Benign Bilirubinemia | bilirubinemia; familial nonhemolytic | cholemia; Gilbert | cholemia; familial | congenital nonhemolytic jaundice | constitutional hyperbilirubinemia | constitutional hyperbilirubinemia (diagnosis) | constitutional; hyperbilirubinemia | diseases gilbert | familial nonhemolytic jaundice | familial; cholemia | familial; jaundice, nonhemolytic | familial; nonhemolytic jaundice | gilbert disease | gilbert syndrome | gilbert syndromes | gilbert's disease | gilbert's syndrome | gilberts disease | gilberts syndrome | hereditary nonhemolytic jaundice | hyperbilirubinemia; constitutional | jaundice; familial nonhemolytic | jaundice; nonhemolitic congenital familial | meulengracht syndrome | nonhemolitic congenital familial; jaundice | syndrome gilbert's MSH2017_2016_08_12:A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level. | NCI2016_02D:An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice. ICD10CM_2017:E80.4|MSH2017_2016_08_12:D005878|OMIM2016_04_17:143500|OMIM2016_04_17:191740|OMIM2016_04_17:MTHU031877|SNOMEDCT_US_2016_09_01:154770008|SNOMEDCT_US_2016_09_01:267509000|SNOMEDCT_US_2016_09_01:27503000 C0221390 Non-bacterial thrombotic endocarditis Endocarditis, Non-Bacterial Thrombotic | Endocarditis, Non-Infective | Endocarditis, Non-Infective [Disease/Finding] | Marantic Endocarditis | Marantic endocarditis | Non-Bacterial Thrombotic Endocarditis | Non-Infective Endocarditis | Non-bacterial thrombotic endocarditis | Nonbacterial thrombotic endocarditis | Nonbacterial thrombotic endocarditis (disorder) | marantic endocarditis | marantic endocarditis (diagnosis) MSH2017_2016_08_12:D059905|SNOMEDCT_US_2016_09_01:57181007 C0341850 Vulval warts Vulval wart | Vulval warts | Vulval warts (disorder) | vulval warts SNOMEDCT_US_2016_09_01:237109002 C1842464 Nablus mask like facial syndrome CHROMOSOME 8q22.1 DELETION SYNDROME | NABLUS MASK-LIKE FACIAL SYNDROME | NMLFS | Nablus mask-like facial syndrome MSH2017_2016_08_12:C536110|OMIM2016_04_17:608156 C2711099 Chronic pain, psychogenic Chronic pain, psychogenic | Chronic psychogenic pain | Chronic psychogenic pain (disorder) | chronic psychogenic pain (diagnosis) SNOMEDCT_US_2016_09_01:441711008 C0477758 Other specified diseases of urinary system Oth spcf diso/urinary systm | Other specified diseases of urinary system | Other specified diseases of urinary system (disorder) | Other specified disorders of urinary system | Other specified disorders of urinary tract | Urinary system diseases OS | [X]Oth spcf diso/urinary systm | [X]Other specified disorders of urinary system | [X]Other specified disorders of urinary system (disorder) ICD10CM_2017:N39.8|ICD9CM_2014:599.89|SNOMEDCT_US_2016_09_01:197955002|SNOMEDCT_US_2016_09_01:198547004 C0346286 Brain oligodendroglioma Brain Oligodendroglioma | Oligodendroglioma of Brain | Oligodendroglioma of brain | Oligodendroglioma of brain (disorder) | Oligodendroglioma of the Brain | malignant oligodendroglioma of brain | malignant oligodendroglioma of brain (diagnosis) SNOMEDCT_US_2016_09_01:254940005 C0022810 Disease, kyasanur forest Disease, Kyasanur Forest | Forest Disease, Kyasanur | KF - Kyasanur Forest disease | KFD - Kyasanur Forest disease | Kyasanur Forest Disease | Kyasanur Forest Disease [Disease/Finding] | Kyasanur Forest disease | Kyasanur forest disease | Kyasanur forest disease (diagnosis) | Kyasanur forest disease (disorder) MSH2017_2016_08_12:Tick-borne flavivirus infection occurring in the Kyasanur Forest in India. | MSHFRE2016:Infection par un Flavivirus transmis par les tiques et retrouv茅 dans la For锚t de Kyasanur en Inde. ICD10CM_2017:A98.2|ICD9CM_2014:065.2|MSH2017_2016_08_12:D007733|SNOMEDCT_US_2016_09_01:23097003 C1855100 Methylmalonyl-coa epimerase deficiency METHYLMALONIC ACIDURIA III, FORMERLY | METHYLMALONYL-CoA EPIMERASE DEFICIENCY | METHYLMALONYL-CoA RACEMASE DEFICIENCY | Methylmalonyl-CoA Epimerase Deficiency | Methylmalonyl-CoA Racemase Deficiency MSH2017_2016_08_12:C565386|OMIM2016_04_17:251120|OMIM2016_04_17:608419 C0041909 Gastrointestinal bleed upper GASTROINTESTINAL BLEED UPPER | UGI bleed | UPPER GASTROINTESTINAL BLEEDING | Upper GI - gastrointestinal haemorrhage | Upper GI - gastrointestinal hemorrhage | Upper GI bleeding | Upper GI blood loss | Upper GI haemorrhage | Upper GI hemorrhage | Upper Gastrointestinal Hemorrhage | Upper gastrointestinal bleeding | Upper gastrointestinal haemorrhage | Upper gastrointestinal haemorrhage (disorder) | Upper gastrointestinal hemorrhage | Upper gastrointestinal hemorrhage (disorder) | bleed gastrointestinal upper | bleed gi upper | bleed ugi | bleeding gastrointestinal upper | bleeding gi upper | bleeding ugi | bleeds gi upper | bleeds ugi | gi haemorrhage upper | ugi bleed | upper GI bleeding | upper gastrointestinal bleed | upper gastrointestinal bleeding | upper gastrointestinal bleeding (diagnosis) | upper gi bleed | upper gi bleeding | upper gi haemorrhage | upper gi hemorrhage NCI2016_02D:Bleeding originating from the upper gastrointestinal tract (oral cavity, pharynx, esophagus, and stomach). | NCI2016_CTCAE_1602D:A disorder characterized by bleeding from the upper gastrointestinal tract (oral cavity, pharynx, esophagus, and stomach). OMIM2016_04_17:MTHU034257|SNOMEDCT_US_2016_09_01:197474003|SNOMEDCT_US_2016_09_01:37372002 C1321909 Latent virus infection phase Latent virus infection phase | latent virus infection CSP2006:phase during the course of a viral infection during which the pathogens are dormant or have not yet produced symptoms. C0041323 Oral tuberculoses Oral Tuberculoses | Oral Tuberculosis | Oral tuberculosis | Oral tuberculosis (disorder) | Tuberculoses, Oral | Tuberculosis, Oral | Tuberculosis, Oral [Disease/Finding] MSH2017_2016_08_12:Tuberculosis of the mouth, tongue, and salivary glands. MSH2017_2016_08_12:D014393|SNOMEDCT_US_2016_09_01:235067001 C2930923 N-acetylneuraminic acid storage disease N-ACETYLNEURAMINIC ACID STORAGE DISEASE | N-Acetylneuraminic acid storage disease | NANA STORAGE DISEASE | NSD | Nana storage disease MSH2017_2016_08_12:C535525|OMIM2016_04_17:269920 C0154565 Non-organic sleep disorder Non-organic sleep disord.unsp. | Non-organic sleep disorder | Non-organic sleep disorder (disorder) | Non-organic sleep disorder NOS | Non-organic sleep disorder NOS (disorder) | Non-organic sleep disorder, unspecified | Non-organic sleep disorders | Nonorganic sleep dis unsp | Nonorganic sleep disorder, unspecified | Nonorganic sleep disorders | Unspecified non-organic sleep disorder | Unspecified non-organic sleep disorder (disorder) | [X]Nonorganic sleep dis unsp | [X]Nonorganic sleep disorder, unspecified | [X]Nonorganic sleep disorder, unspecified (disorder) | nonorganic origin; sleep disorder | nonorganic sleep disorders | nonorganic sleep disorders (diagnosis) | sleep disorder; nonorganic origin ICD9CM_2014:307.40|SNOMEDCT_US_2016_09_01:191994005|SNOMEDCT_US_2016_09_01:191995006|SNOMEDCT_US_2016_09_01:192010002|SNOMEDCT_US_2016_09_01:192453005|SNOMEDCT_US_2016_09_01:192462007|SNOMEDCT_US_2016_09_01:270487001 C2004491 Cicatrix Cicatrices | Cicatrix | Cicatrix [Disease/Finding] | Fibrous scar | Healing scar | Healing scar (morphologic abnormality) | SCAR | Scar | Scar (disorder) | Scar (morphologic abnormality) | Scar NOS | Scar NOS (disorder) | Scar tissue | Scar, NOS | Scarred | Scarring | Scarring (qualifier value) | Scarring -RETIRED- | Scars | cicatrix | scar | scar (___cm) (see also by location) | scar (diagnosis) | scar (physical finding) CSP2006:lingering mark left on the skin after a surface injury, formed in the process of wound healing; also includes the new, internal tissue formed in the process of repair, as in a scarred kidney. | MSH2017_2016_08_12:The fibrous tissue that replaces normal tissue during the process of WOUND HEALING. | NCI2016_02D:A permanent mark left on the skin in the process of wound healing.(NICHD) | NCI2016_CDISC_1602D:A mark left (usually on the skin) by the healing of injured tissue. | NCI2016_NICHD_1602D:A permanent mark left on the skin in the process of wound healing. ICD10CM_2017:L90.5|MSH2017_2016_08_12:D002921|OMIM2016_04_17:MTHU010020|SNOMEDCT_US_2016_09_01:123121007|SNOMEDCT_US_2016_09_01:12402003|SNOMEDCT_US_2016_09_01:156442008|SNOMEDCT_US_2016_09_01:156443003|SNOMEDCT_US_2016_09_01:201312003|SNOMEDCT_US_2016_09_01:255450007|SNOMEDCT_US_2016_09_01:267822001|SNOMEDCT_US_2016_09_01:267872004|SNOMEDCT_US_2016_09_01:275322007|SNOMEDCT_US_2016_09_01:48677004 C0024138 Lupus erythematosus, discoid CDLE - Chronic discoid lupus erythematosus | Chronic cutaneous lupus erythematosus | Chronic discoid lupus erythematosus | Chronic discoid lupus erythematosus (disorder) | DISCOID LUPUS | DISCOID LUPUS ERYTHEMATOSIS | DLE | DLE - Discoid lupus erythematosus | Discoid Lupus Erythematosus | Discoid lupus | Discoid lupus erythematosis | Discoid lupus erythematosus | Discoid lupus erythematosus (disorder) | Discoid lupus erythematosus (disorder) [Ambiguous] | Discoid lupus erythematous | LE - Discoid lupus erythematosus | LUPUS DISCOID | LUPUS ERYTHEMATOSIS DISCOID | LUPUS ERYTHEMATOSUS DISCOID | LUPUS ERYTHEMATOSUS, DISCOID | Lupus Erythematosus, Chronic Cutaneous | Lupus Erythematosus, Cutaneous, Chronic | Lupus Erythematosus, Discoid | Lupus Erythematosus, Discoid [Disease/Finding] | Lupus discoid | Lupus erythematosis discoid | Lupus erythematosus discoid | Lupus erythematosus discoides | Lupus erythematosus, discoid | discoid lupus | discoid lupus erythematosis | discoid lupus erythematosus | discoid lupus erythematosus (DLE) | discoid; lupus | dle | lupus | lupus discoid | lupus erythematosus discoid | lupus erythematosus discoid (diagnosis) | lupus; discoid CSP2006:chronic form of cutaneous lupus erythematosus in which the skin lesions mimic those of the systemic form but in which systemic signs are rare; characterized by the presence of discoid skin plaques showing varying degrees of edema, erythema, scaliness, follicular plugging, and skin atrophy; lesions are surrounded by an elevated erythematous border; the condition typically involves the face and scalp, but widespread dissemination may occur. | MSH2017_2016_08_12:A chronic form of cutaneous lupus erythematosus (LUPUS ERYTHEMATOSUS, CUTANEOUS) in which the skin lesions mimic those of the systemic form but in which systemic signs are rare. It is characterized by the presence of discoid skin plaques showing varying degrees of edema, erythema, scaliness, follicular plugging, and skin atrophy. Lesions are surrounded by an elevated erythematous border. The condition typically involves the face and scalp, but widespread dissemination may occur. | NCI2016_02D:A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE). | NCI2016_NICHD_1602D:A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE). HPO2016_07_04:HP:0007417|ICD10CM_2017:L93.0|MSH2017_2016_08_12:D008179|SNOMEDCT_US_2016_09_01:13902000|SNOMEDCT_US_2016_09_01:156365002|SNOMEDCT_US_2016_09_01:200938002|SNOMEDCT_US_2016_09_01:238927000 C4072847 Hypercalcification of skull base HyperCalcification of skull base HPO2016_07_04:HP:0002694 C0031207 Personal space Body Buffer Zone | Body Buffer Zones | Buffer Zone, Body | Buffer Zones, Body | Personal Space | Personal Spaces | Personal space | Privacy of Space | Space Privacy | Space, Personal | Spaces, Personal | Zone, Body Buffer | Zones, Body Buffer | personal space MSH2017_2016_08_12:Invisible boundaries surrounding the individual's body which are maintained in relation to others. | PSY2004:Minimal spatial distance preferred by an individual in his/her relations with others. MSH2017_2016_08_12:D010550 C1844887 Catel manzke syndrome CATEL-MANZKE SYNDROME | CATMANS | Catel Manzke syndrome | Catel-Manzke Syndrome | HYPERPHALANGY-CLINODACTYLY OF INDEX FINGER WITH PIERRE ROBIN SYNDROME | Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome | INDEX FINGER ANOMALY WITH PIERRE ROBIN SYNDROME | Index Finger Anomaly With Pierre Robin Syndrome | MICROGNATHIA DIGITAL SYNDROME | PALATODIGITAL SYNDROME, CATEL-MANZKE TYPE | PIERRE ROBIN SYNDROME WITH HYPERPHALANGY AND CLINODACTYLY | Palatodigital syndrome, Catel-Manzke type | Pierre Robin syndrome with hyperphalangy and clinodactyly MSH2017_2016_08_12:C535347|OMIM2016_04_17:616145|OMIM2016_04_17:616146 C4021326 Aplasia/hypoplasia of the distal phalanges of the toes Absent/hypoplastic terminal phalanges of toes | Absent/small outermost bones of toe | Absent/underdeveloped outermost bones of toe | Aplasia/Hypoplasia of the distal phalanges of the toes HPO2016_07_04:Absence or underdevelopment of the distal phalanges of the toes. [HPO:probinson] HPO2016_07_04:HP:0010185 C0040249 White piedra Piedra due to Trichosporon cutaneum | Piedra, White | Piedras, White | Tinea blanca | White Piedra | White Piedras | White piedra | White piedra (disorder) | alba; piedra | blanca; tinea | piedra; alba | tinea blanca | tinea blanca (diagnosis) | tinea; blanca | white piedra ICD10CM_2017:B36.2|ICD9CM_2014:111.2|MSH2017_2016_08_12:D010854|SNOMEDCT_US_2016_09_01:35586003 C0262428 Collagen-vascular disease COLLAGEN VASCULAR DISEASE | COLLAGEN/VASCULAR DISEASE | Collagen (vascular) disease NOS | Collagen-vascular disease | collagen disease vascular | collagen diseases vascular | collagen vascular disease | collagen vascular disease (diagnosis) | collagen vascular diseases | collagen-vascular disease | vascular collagen disease | vascular disease collagen ICD10CM_2017:M35.9 C1336124 Stage ia small cell carcinoma of lung Stage IA Small Cell Carcinoma of Lung | Stage IA Small Cell Carcinoma of the Lung | Stage IA Small Cell Lung Cancer | Stage IA Small Cell Lung Carcinoma | Stage IA Small Cell Lung Carcinoma AJCC v7 NCI2016_02D:Stage IA includes: (T1a, N0, M0); (T1b, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.) C0006262 Bronchial fistula BRONCHIAL FISTULA | Bronchial Fistula | Bronchial Fistula [Disease/Finding] | Bronchial Fistulas | Bronchial fistula | Bronchial fistula (disorder) | Fistula bronchial | Fistula, Bronchial | Fistulas, Bronchial | bronchial fistula (diagnosis) | bronchial; fistula | fistula; bronchial MSH2017_2016_08_12:An abnormal passage or communication between a bronchus and another part of the body. | NCI2016_02D:An abnormal communication between the bronchus and another organ or anatomic site. | NCI2016_CTCAE_1602D:A disorder characterized by an abnormal communication between the bronchus and another organ or anatomic site. MSH2017_2016_08_12:D001983|SNOMEDCT_US_2016_09_01:233791001 C3536827 Glycogenosis with glucoaminophosphaturia Glycogenosis with glucoaminophosphaturia | Glycogenosis with glucoaminophosphaturia (disorder) | Pseudo-phlorizin diabetes | Renal glucose-losing syndrome SNOMEDCT_US_2016_09_01:61598006 C1842083 Abnormality of the ribs Abnormality of the ribs | Rib abnormalities | Rib anomalies | rib abnormalities | rib abnormalities (physical finding) HPO2016_07_04:An anomaly of the rib. [HPO:probinson] HPO2016_07_04:HP:0000772|OMIM2016_04_17:MTHU002216|OMIM2016_04_17:MTHU006154 C0004138 Ataxias, hereditary Ataxia, Hereditary | Ataxia, hereditary | Ataxias, Hereditary | Degeneration, Familial Spinocerebellar | Degeneration, Hereditary Spinocerebellar | Degeneration, Inherited Spinocerebellar | Degenerations, Familial Spinocerebellar | Degenerations, Hereditary Spinocerebellar | Degenerations, Inherited Spinocerebellar | Familial Spinocerebellar Degeneration | Familial Spinocerebellar Degenerations | Hereditary Ataxia | Hereditary Ataxias | Hereditary Spinocerebellar Degeneration | Hereditary Spinocerebellar Degenerations | Hereditary ataxia | Hereditary ataxia NOS | Hereditary ataxia, unspecified | Inherited Spinocerebellar Degeneration | Inherited Spinocerebellar Degenerations | Spinocerebellar Degeneration, Familial | Spinocerebellar Degeneration, Hereditary | Spinocerebellar Degeneration, Inherited | Spinocerebellar Degenerations, Familial | Spinocerebellar Degenerations, Hereditary | Spinocerebellar Degenerations, Inherited | ataxia hereditary | ataxia; hereditary | disease (or disorder); spinocerebellar (hereditary) | hereditary ataxia | hereditary ataxia (diagnosis) | hereditary ataxias | hereditary; ataxia | spinocerebellar; disorder (hereditary) ICD10CM_2017:G11|ICD10CM_2017:G11.9|MSH2017_2016_08_12:D013132|SNOMEDCT_US_2016_09_01:10394003 C1135161 Stage 4s neuroblastoma Neuroblastoma Stage IVS | Neuroblastoma, metastatic | Neuroblastoma, metastatic (morphologic abnormality) | Pepper's Syndrome | Stage 4S Neuroblastoma | Stage 4S neuroblastoma | Stage IVS Neuroblastoma | disseminated neuroblastoma | metastatic neuroblastoma | neuroblastoma, disseminated | neuroblastoma, metastatic | neuroblastoma, stage 4S | neuroblastoma, stage IVS | special neuroblastoma | stage 4S neuroblastoma | stage IVS neuroblastoma NCI2016_02D:Localized primary tumor, as defined for stage 1, 2A, or 2B, with dissemination limited to skin, liver, and/or bone marrow (limited to infants younger than 1 year). Marrow involvement should be minimal (i.e., <10% of total nucleated cells identified as malignant by bone biopsy or by bone marrow aspirate). More extensive bone marrow involvement would be considered stage 4 disease. The results of the MIBG scan, if performed, should be negative for disease in the bone marrow. (cancer.gov) SNOMEDCT_US_2016_09_01:704147007 C0341950 Edema severe PET - Sev pre-eclamptic toxaem | PET - Severe pre-eclamptic toxaemia | PET - Severe pre-eclamptic toxemia | Pre-eclampsia, severe | Pre-eclamptic, severe | Preeclampsia with Severe Features | Preeclampsia, severe | Sev prot hypertension, pregnan | Severe Preeclampsia | Severe edema | Severe oedema | Severe pre-eclampsia | Severe pre-eclampsia (disorder) | Severe pre-eclampsia NOS | Severe pre-eclampsia NOS (disorder) | Severe pre-eclampsia unspecif. | Severe pre-eclampsia unspecified | Severe pre-eclampsia unspecified (disorder) | Severe pre-eclamptic toxaemia | Severe pre-eclamptic toxemia | Severe proteinuric hypertension of pregnancy | Severe proteinuric hypertension of pregnancy (disorder) | edema severe | pre-eclampsia; severe | preeclampsia severe | pregnancy; pre-eclampsia, severe | severe edema | severe pre-eclampsia | severe pre-eclampsia (diagnosis) | severe preeclampsia | severe; pre-eclampsia NCI2016_02D:Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances.(NICHD) | NCI2016_NICHD_1602D:Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. ICD10CM_2017:O14.1|ICD9CM_2014:642.5|SNOMEDCT_US_2016_09_01:156110008|SNOMEDCT_US_2016_09_01:198981000|SNOMEDCT_US_2016_09_01:198982007|SNOMEDCT_US_2016_09_01:198987001|SNOMEDCT_US_2016_09_01:46764007 C0014547 Epilepsies, partial Disorders, Focal Seizure | Disorders, Partial Seizure | Epilepsies, Focal | Epilepsies, Localization-Related | Epilepsies, Partial | Epilepsies, Partial [Disease/Finding] | Epilepsy, Focal | Epilepsy, Localization-Related | Epilepsy, Partial | Epilepsy, focal | Epilepsy, focal NOS | Epilepsy, partial NOS | Focal Epilepsies | Focal Epilepsy | Focal Seizure Disorder | Focal Seizure Disorders | Focal epilepsy | Focal epilepsy, NOS | LOCALIZATION-RELATED EPILEPSIES | Local epilepsy | Localisation related epilepsy | Localisation-related epilepsy | Localisation-related epilepsy (disorder) | Localisation-related epilepsy -RETIRED- | Localization related epilepsy | Localization-Related Epilepsies | Localization-Related Epilepsy | Localization-related epilepsy | Localization-related epilepsy (disorder) | Localization-related epilepsy -RETIRED- | Localization-related epilepsy, NOS | Partial Epilepsies | Partial Epilepsy | Partial Seizure Disorder | Partial Seizure Disorders | Partial epilepsy | SEIZURE DISORDER FOCAL | Seizure Disorder, Focal | Seizure Disorder, Partial | Seizure Disorders, Focal | Seizure Disorders, Partial | epilepsy focal | epilepsy; focal | epilepsy; localization-related | epilepsy; partial | focal epilepsy | focal seizure disorder | focal; epileptic | local epilepsy | partial epilepsy | partial seizure disorder | partial; epileptic MSH2017_2016_08_12:Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317) | NCI2016_02D:A seizure caused by a localized disorder. MSH2017_2016_08_12:D004828|OMIM2016_04_17:MTHU038053|OMIM2016_04_17:MTHU051763|SNOMEDCT_US_2016_09_01:155041001|SNOMEDCT_US_2016_09_01:155044009|SNOMEDCT_US_2016_09_01:193007004|SNOMEDCT_US_2016_09_01:230381009|SNOMEDCT_US_2016_09_01:29753000|SNOMEDCT_US_2016_09_01:67139004 C0271491 Cochlear otosclerosis involving otic capsule Otosclerosis involving otic capsule | Otosclerosis involving otic capsule (disorder) | cochlear otosclerosis involving otic capsule | cochlear otosclerosis involving otic capsule (diagnosis) | cochlear otosclerosis, involving otic capsule ICD10CM_2017:H80.2|SNOMEDCT_US_2016_09_01:23066002 C0085669 Acute leukemia ACUTE LEUKEMIA | Acute Leukemia | Acute leukaemia | Acute leukaemia NOS | Acute leukaemia NOS (disorder) | Acute leukaemia of unspecified cell type | Acute leukaemia, NOS | Acute leukaemia, disease | Acute leukaemia, morphology, including blast cell OR undifferentiated leukaemia | Acute leukemia | Acute leukemia NOS | Acute leukemia NOS (disorder) | Acute leukemia of unspecified cell type | Acute leukemia, NOS | Acute leukemia, disease | Acute leukemia, disease (disorder) | Acute leukemia, morphology, including blast cell OR undifferentiated leukemia | Acute leukemia, morphology, including blast cell OR undifferentiated leukemia (morphologic abnormality) | Acute leukemias | LEUKAEMIA ACUTE | LEUKEMIA ACUTE | Leukaemia acute | Leukaemia of unspecified cell type, acute | Leukemia acute | Leukemia of unspecified cell type, acute | [M]Acute leukaemia NOS | [M]Acute leukemia NOS | acute leukaemia | acute leukaemias | acute leukemia | acute leukemia (diagnosis) | acute leukemias | acute; leukemia | leukemia acute | leukemia, acute | leukemia; acute CSP2006:leukemia in which the involved cell shows little or no differentiation, usually consisting of blast cells; two types are distinguished, acute lymphocytic and acute myelogenous leukemia. | NCI2016_02D:A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). | NCI2016_NCI-GLOSS_1602D:A rapidly progressing cancer that starts in blood-forming tissue such as the bone marrow, and causes large numbers of white blood cells to be produced and enter the blood stream. HPO2016_07_04:HP:0002488|ICD10CM_2017:C95.0|ICD10CM_2017:C95.00|ICD9CM_2014:208.0|OMIM2016_04_17:MTHU017415|SNOMEDCT_US_2016_09_01:154599000|SNOMEDCT_US_2016_09_01:188763007|SNOMEDCT_US_2016_09_01:24072005|SNOMEDCT_US_2016_09_01:91855006 C0917814 Aphasia, expressive APHASIA EXPRESSIVE | Aphasia, Expressive | DYSPHASIA EXPRESSIVE | Expressive Aphasia | Expressive aphasia | Expressive aphasia syndrome | Expressive dysphasia | Expressive dysphasia (finding) | expressive aphasia | expressive dysphasia HPO2016_07_04:HP:0002427|MSH2017_2016_08_12:D001039|OMIM2016_04_17:MTHU023969|SNOMEDCT_US_2016_09_01:229665008|SNOMEDCT_US_2016_09_01:53282007 C0413730 Naproxen adverse reaction Adverse reaction caused by naproxen | Adverse reaction caused by naproxen (disorder) | Adverse reaction to naproxen | Adverse reaction to naproxen (disorder) | Adverse reaction to naproxen (finding) | NAPROXEN ADVERSE REACTION | Naproxen adverse reaction | Naproxen adverse reaction (disorder) SNOMEDCT_US_2016_09_01:218620007|SNOMEDCT_US_2016_09_01:292083005 C0030271 Pancoast syndrome PANCOAST SYNDROME | Pancoast | Pancoast Syndrome | Pancoast Syndrome [Disease/Finding] | Pancoast syndrome | Pancoast's Syndrome | Pancoast's syndrome | Pancoast's syndrome (disorder) | Pancoasts Syndrome | SUPERIOR PULMONARY SULCUS SYNDROME | Superior pulmonary sulcus syndrome | Superior pulmonary sulcus syndrome (disorder) | Superior pulmonary sulcus syndrome (disorder) [Ambiguous] | Syndrome, Pancoast | Syndrome, Pancoast's | pancoast syndrome | pancoast's syndrome | pancoasts syndrome MSH2017_2016_08_12:A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand. | NCI2016_02D:A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent. MSH2017_2016_08_12:D010178|SNOMEDCT_US_2016_09_01:187860004|SNOMEDCT_US_2016_09_01:278065000|SNOMEDCT_US_2016_09_01:80367008 C0235369 Hepatitis granulomatous Granulomatous Hepatitis | Granulomatous hepatitis | Granulomatous hepatitis (disorder) | HEPATITIS GRANULOMATOUS | Hepatitis granulomatous | Hepatitis granulomatous NOS | granulomatous hepatitis | granulomatous hepatitis (diagnosis) | granulomatous; hepatitis | hepatitis granulomatous | hepatitis; granulomatous SNOMEDCT_US_2016_09_01:86514004 C2678311 Thrombocytopenia 3 THC3 | THROMBOCYTOPENIA 3 | THROMBOCYTOPENIA, AUTOSOMAL RECESSIVE, 3 | Thrombocytopenia 3 | Thrombocytopenia, Autosomal Recessive, 3 MSH2017_2016_08_12:C567487|OMIM2016_04_17:273900 C4225669 Chromosome 10q22.3-q23.2 deletion syndrome CHROMOSOME 10q22.3-q23.2 DELETION SYNDROME OMIM2016_04_17:612242 C1868081 Juvenile polyposis coli JUVENILE POLYPOSIS COLI | Juvenile Polyposis Coli MSH2017_2016_08_12:C537702|OMIM2016_04_17:174900 C0152081 Pustular psoriasis PSEUDOPSORIASIS, PUSTULAR | PSORIASIS PUSTULAR | PSORIASIS, PUSTULAR | Psoriasis pustular | Pustular psoriasis | Pustular psoriasis (disorder) | psoriasis pustular | psoriasis; pustular | pustular psoriasis | pustular; psoriasis SNOMEDCT_US_2016_09_01:200901002|SNOMEDCT_US_2016_09_01:200973000 C0034895 Rectovaginal fistula FISTULA, RECTOVAGINAL | Fistula, Rectovaginal | Fistulas, Rectovaginal | RECTOVAGINAL FISTULA | RVF - Rectovaginal fistula | Recto-vaginal fistula | Rectovaginal Fistula | Rectovaginal Fistula [Disease/Finding] | Rectovaginal Fistulas | Rectovaginal fistula | Rectovaginal fistula (disorder) | fistula recto vaginal | fistula rectovaginal | fistula; rectovaginal | fistulas recto vaginal | recto vaginal fistula | recto-vaginal fistula | rectovaginal fistula | rectovaginal fistula (diagnosis) | rectovaginal fistula (physical finding) | rectovaginal fistulas | rectovaginal; fistula | vaginorectal fistula HPO2016_07_04:The presence of a fistula between the vagina and the rectum. [HPO:probinson] | MSH2017_2016_08_12:An abnormal anatomical passage between the RECTUM and the VAGINA. HPO2016_07_04:HP:0000143|ICD10CM_2017:N82.3|MSH2017_2016_08_12:D012006|OMIM2016_04_17:MTHU036423|SNOMEDCT_US_2016_09_01:65619001 C2751686 Lymphoproliferative syndrome, ebv-associated, autosomal, 1 Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 MSH2017_2016_08_12:C567815 C3554686 Immunodeficiency 11 CARD11 IMMUNODEFICIENCY | IMD11 | IMMUNODEFICIENCY 11 OMIM2016_04_17:607210|OMIM2016_04_17:615206 C0040261 Onychomycosis Dermatophytic onychia | Fungal infection of claw | Fungal infection of nail | Fungal infection of nail, NOS | Fungal nail infection | Fungus, Nail | Infection;fungus;nail(s) | NAIL INFECTION FUNGAL | Nail Fungus | Nail fungal infection NOS | OM - Onychomycosis | ONYCHOMYCOSIS | Onychomycoses | Onychomycosis | Onychomycosis (& [tinea of nail]) | Onychomycosis (& [tinea of nail]) (disorder) | Onychomycosis (disorder) | Onychomycosis [Disease/Finding] | Ringworm of nail | Ringworm of nails | Tinea Unguium | Tinea of nail | Tinea of nail - onychomycosis | Tinea unguium | Tinea unguium (disorder) | fungal infection of nail | fungal infection of nail (diagnosis) | fungal nail infection | fungus; infection, nail | infection; fungus, nail | nail tinea | nail; ringworm | onychomycoses | onychomycosis | ringworm; nail | tinea unguium | tinea; unguium | unguium; tinea HPO2016_07_04:A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split. [HPO:probinson] | MSH2017_2016_08_12:A fungal infection of the nail, usually caused by DERMATOPHYTES; YEASTS; or nondermatophyte MOLDS. | NCI2016_02D:Fungal infection of a fingernail or toenail. | NCI2016_NICHD_1602D:Fungal infection of a fingernail or toenail. HPO2016_07_04:HP:0012203|ICD10CM_2017:B35.1|MSH2017_2016_08_12:D014009|OMIM2016_04_17:MTHU041767|SNOMEDCT_US_2016_09_01:154397004|SNOMEDCT_US_2016_09_01:186988000|SNOMEDCT_US_2016_09_01:266149008|SNOMEDCT_US_2016_09_01:266215006|SNOMEDCT_US_2016_09_01:30757001|SNOMEDCT_US_2016_09_01:414941008 C1854063 Cardiomyopathy dilated with woolly hair and keratoderma CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA | CARVAJAL SYNDROME | Cardiomyopathy dilated with Woolly hair and keratoderma | Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma | Carvajal syndrome | DCWHK | Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy | PALMOPLANTAR KERATODERMA WITH LEFT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR | Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair MSH2017_2016_08_12:C535581|OMIM2016_04_17:125647|OMIM2016_04_17:605676 C0265836 Congenital tricuspid valve stenosis Congenital stenosis of tricuspid valve | Congenital stenosis of tricuspid valve (disorder) | Congenital tricuspid stenosis | Congenital tricuspid valve stenosis | TS - Congenital tricuspid stenosis | congenital tricuspid valve stenosis | congenital tricuspid valve stenosis (diagnosis) | deformity; tricuspid (valve), congenital, stenosis | stenosis; tricuspid (valve), congenital | tricuspid (valve); deformity, congenital, stenosis | tricuspid (valve); stenosis, congenital | tricuspid valve stenosis congenital ICD10CM_2017:Q22.4|SNOMEDCT_US_2016_09_01:36233006 C0270952 Muscular dystrophy, oculopharyngeal Dystrophies, Oculopharyngeal Muscular | Dystrophy, Oculopharyngeal Muscular | MUSCULAR DYSTROPHY, OCULOPHARYNGEAL | Muscular Dystrophies, Oculopharyngeal | Muscular Dystrophy, Oculopharyngeal | Muscular Dystrophy, Oculopharyngeal [Disease/Finding] | Muscular dystrophy, oculopharyngeal | OCULOPHARYNGEAL MUSCULAR DYSTROPHY | OPMD | Oculopharyngeal Dystrophy | Oculopharyngeal Muscular Dystrophies | Oculopharyngeal Muscular Dystrophy | Oculopharyngeal dystrophy | Oculopharyngeal muscular dystrophy | Oculopharyngeal muscular dystrophy (disorder) | Progressive Muscular Dystrophy, Oculopharyngeal Type | Progressive muscular dystrophy, oculopharyngeal type | dystrophy; oculopharyngeal | oculopharyngeal muscular dystrophy | oculopharyngeal muscular dystrophy (diagnosis) | oculopharyngeal; dystrophy MSH2017_2016_08_12:An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy. | NCI2016_02D:An autosomal dominant inherited disorder caused by mutations in the PABPN1 gene. It is characterized by late-onset eyelid ptosis and dysphagia. Patients have a positive family history involving at least two generations. ICD10CM_2017:G71.0|MSH2017_2016_08_12:D039141|OMIM2016_04_17:164300|OMIM2016_04_17:602279|SNOMEDCT_US_2016_09_01:77097004 C0268982 Infertility due to incomplete spermatogenic arrest Infertility due to incomplete spermatogenic arrest | Infertility due to incomplete spermatogenic arrest (disorder) | Infertility due to incomplete spermatogenic arrest (finding) SNOMEDCT_US_2016_09_01:72746005 C0005758 Bulla BLISTER | BLISTERS | BULLA | Bleb | Blebs | Blister | Blister (morphologic abnormality) | Blister NOS | Blister NOS (disorder) | Blister [Disease/Finding] | Blister, NOS | Blister: NOS | Blistering | Blistering eruption | Blisters | Bulla | Bullae | Bullous Lesion | Bullous Lesions | Bullous lesions | Lesion, Bullous | Lesions, Bullous | Vesication | Vesications | Vesicle | blister | blister (diagnosis) | bulla | bullae | bullous lesion | bullous lesions | vesication CSP2006:visible accumulations of fluid within or beneath the epidermis. | MSH2017_2016_08_12:Visible accumulations of fluid within or beneath the epidermis. | NCI2016_02D:A large (greater than 5-10 mm) intraepidermal/subepidermal cavity filled with clear, serosanguineous or cloudy fluid. | NCI2016_02D:An intraepidermal/subepidermal cavity filled with clear, serosanguineous or cloudy fluid.(NICHD) | NCI2016_NCI-GLOSS_1602D:A fluid-filled sac in the outer layer of skin. It can be caused by rubbing, heat, or diseases of the skin. | NCI2016_NICHD_1602D:A large (greater than 5 - 10 mm) intraepidermal/subepidermal cavity filled with clear, serosanguineous or turbid fluid. | NCI2016_NICHD_1602D:An intraepidermal/subepidermal cavity filled with clear, serosanguineous or turbid fluid. | SCTSPA_2016_04_30:Lesi贸n sobreelevada, llena de l铆quido, generalmente transl煤cida, mayor de 1 cm de di谩metro | SNOMEDCT_US_2016_09_01:A fluid-filled, raised, often translucent lesion, greater than 1 cm in diameter MSH2017_2016_08_12:D001768|OMIM2016_04_17:MTHU010019|OMIM2016_04_17:MTHU024224|SNOMEDCT_US_2016_09_01:210984001|SNOMEDCT_US_2016_09_01:247464001|SNOMEDCT_US_2016_09_01:271208000|SNOMEDCT_US_2016_09_01:287129000|SNOMEDCT_US_2016_09_01:339008 C1333936 Adenoid cystic carcinoma of hard palate Adenoid Cystic Carcinoma of Hard Palate | Adenoid Cystic Carcinoma of the Hard Palate | Hard Palate Adenoid Cystic Carcinoma NCI2016_02D:An adenoid cystic carcinoma arising from the minor salivary glands in the hard palate. C1414542 Fbn1 gene FBN | FBN1 | FBN1 Gene | FBN1 gene | FIBRILLIN | FIBRILLIN 1 | Fibrillin 1 Gene | MASS | Marfan syndrome | OCTD | SGS | fibrillin 1 NCI2016_02D:This gene is involved in the maintenance of connective tissue. OMIM2016_04_17:134797 C0276015 Gummatous periostitis of yaws Gummatous periostitis of yaws | Gummatous periostitis of yaws (disorder) SNOMEDCT_US_2016_09_01:27684000 C0020461 Hyperkalemia Elevated serum potassium levels | HYPERKALAEMIA | HYPERKALEMIA | HYPERPOTASSAEMIA | HYPERPOTASSEMIA | Hyperkalaemia | Hyperkalaemia (disorder) | Hyperkalaemic syndrome | Hyperkalemia | Hyperkalemia (disorder) | Hyperkalemia [Disease/Finding] | Hyperkalemias | Hyperkalemic disorder | Hyperkalemic syndrome | Hyperpotassaemia | Hyperpotassemia | Hyperpotassemias | K excess | K overload | Potassium [K] excess | Potassium [K] overload | Potassium excess | Potassium overload | Potassium overload (disorder) | Raised serum potassium level | Raised serum potassium level (finding) | Serum potassium concentration increased above normal | excess k | excess potassium | excess; potassium | excessive potassium in the blood | high blood potassium level | hyperkalaemia | hyperkalemia | hyperkalemia (diagnosis) | hyperkalemic; syndrome | hyperpotassemia | overload; potassium | potassium excess | potassium overload | potassium; excess | potassium; overload | syndrome; hyperkalemic CSP2006:abnormally high potassium concentration in the blood, most often due to defective renal excretion; characterized clinically by electrocardiographic abnormalities; in severe cases, weakness and flaccid paralysis may occur. | HPO2016_07_04:An abnormally increased potassium concentration in the blood. [HPO:probinson] | MSH2017_2016_08_12:Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed) | NCI2016_02D:Higher than normal levels of potassium in the circulating blood; associated with kidney failure or sometimes with the use of diuretic drugs. | NCI2016_CTCAE_1602D:A disorder characterized by laboratory test results that indicate an elevation in the concentration of potassium in the blood; associated with kidney failure or sometimes with the use of diuretic drugs. | NCI2016_NICHD_1602D:Abnormally high level of potassium in the blood. HPO2016_07_04:HP:0002153|ICD10CM_2017:E87.5|ICD9CM_2014:276.7|MSH2017_2016_08_12:D006947|OMIM2016_04_17:MTHU036844|SNOMEDCT_US_2016_09_01:14140009|SNOMEDCT_US_2016_09_01:154761005|SNOMEDCT_US_2016_09_01:154764002|SNOMEDCT_US_2016_09_01:166689004|SNOMEDCT_US_2016_09_01:238142003 C1532560 Plasmacytoma - category Plasmacytoma | Plasmacytoma - category | Plasmacytoma - category (morphologic abnormality) SNOMEDCT_US_2016_09_01:415113000 C1513721 Mucoepidermoid thyroid carcinoma Mucoepidermoid Thyroid Carcinoma | Mucoepidermoid Thyroid Gland Carcinoma | Thyroid Gland Mucoepidermoid Carcinoma NCI2016_02D:A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent. C0086666 Preinfarction syndrome Myocardial Preinfarction Syndrome | Myocardial Preinfarction Syndromes | Myocardial preinfarction syndrome | PREINFARCTION SYNDROME | Pre infarction syndrome | Pre-infarction syndrome | Preinfarction Syndrome, Myocardial | Preinfarction Syndromes, Myocardial | Preinfarction angina | Preinfarction syndrome | Preinfarction syndrome (disorder) | Preinfarction syndrome NOS | Preinfarction syndrome NOS (disorder) | Syndrome, Myocardial Preinfarction | Syndromes, Myocardial Preinfarction | preinfarction; syndrome | syndrome; preinfarction ICD10CM_2017:I20.0|MSH2017_2016_08_12:D000789|SNOMEDCT_US_2016_09_01:194814006|SNOMEDCT_US_2016_09_01:194820007|SNOMEDCT_US_2016_09_01:4557003 C0023348 Leprosy, lepromatous Full lepromatous leprosy | HANSEN DISEASE, MALIGNANT FORM | LEPROMATOUS LEPROSY | LEPROSY, LEPROMATOUS | LL - Full lepromatous leprosy | LL leprosy | LL; leprosy | Lepromatous Leprosies | Lepromatous Leprosy | Lepromatous leprosy | Lepromatous leprosy (disorder) | Lepromatous leprosy (type l) | Lepromatous leprosy [type L] | Leprosies, Lepromatous | Leprosy, Lepromatous | Leprosy, Lepromatous [Disease/Finding] | Type L leprosy | Type LL leprosy | lepromatous leprosy | lepromatous leprosy (diagnosis) | lepromatous; leprosy | leprosy; LL | leprosy; lepromatous MSH2017_2016_08_12:A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage. ICD10CM_2017:A30.5|ICD9CM_2014:030.0|MSH2017_2016_08_12:D015440|SNOMEDCT_US_2016_09_01:21560005 C2930828 Malignant fever Fulminating hyperpyrexia | Malignant fever | Pharmacogenic myopathy MSH2017_2016_08_12:C531737 C1335520 Acinar prostate adenocarcinoma, signet ring variant Acinar Prostate Adenocarcinoma, Signet Ring Variant | Prostate Signet Ring Cell Carcinoma | Signet Ring Cell Carcinoma of Prostate | Signet Ring Cell Carcinoma of the Prostate NCI2016_02D:A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells. C1839577 Ophthalmoplegia, external, and myopia (disorder) MYOPIA-OPHTHALMOPLEGIA SYNDROME | Myopia-Ophthalmoplegia Syndrome | OPEM | OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA | OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA (disorder) | Ophthalmoplegia, External, and Myopia MSH2017_2016_08_12:C564087|OMIM2016_04_17:311000 C0393714 Secondary reading epilepsy Secondary reading epilepsy | Secondary reading epilepsy (disorder) SNOMEDCT_US_2016_09_01:230440002 C0278867 Ciliary body and choroid melanoma, small size Small Size Posterior Uveal Melanoma | ciliary body and choroid melanoma, small size | intraocular melanoma ciliary body and choroid, small size | melanoma, intraocular ciliary body and choroid small size | melanoma, posterior uveal, small size | posterior uveal melanoma, small size | small size ciliary body and choroid melanoma | uveal melanoma, posterior, small size C0751617 Semilobar holoprosencephaly Holoprosencephalies, Semilobar | Holoprosencephaly, Semilobar | Semi-lobar holoprosencephaly | Semi-lobar holoprosencephaly (disorder) | Semilobar Holoprosencephalies | Semilobar Holoprosencephaly | Semilobar holoprosencephaly HPO2016_07_04:A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. [gc:hpe] HPO2016_07_04:HP:0002507|MSH2017_2016_08_12:D016142|OMIM2016_04_17:MTHU018450|SNOMEDCT_US_2016_09_01:253138008 C0268274 Gangliosidoses, gm2 Deficiency of beta-N-acetylhexosaminidase isoenzymes | G(M2) Gangliosidoses | GM 2 gangliosidosis | GM 2 gangliosidosis (disorder) | GM2 Gangliosidose | GM2 Gangliosidoses | GM2 Gangliosidosis | GM2 gangliosidosis | GM2 gangliosidosis (disorder) | GM2 gangliosidosis, NOS | GM2 gangliosidosis, unspecified | GM2, Gangliosidoses | GM2; gangliosidosis | GM2 gangliosidosis | GM2 gangliosidosis (disorder) | GM2 gangliosidosis, NOS | GM>2< gangliosidosis | GM>2< gangliosidosis (disorder) | GM>2< gangliosidosis, NOS | Gangliosidose, GM2 | Gangliosidoses GM2 | Gangliosidoses, GM2 | Gangliosidoses, GM2 [Disease/Finding] | Gangliosidosis, GM2 | gangliosidoses gm2 | gangliosidosis; GM2 | gm2 gangliosidosis | gm2 gangliosidosis (diagnosis) MSH2017_2016_08_12:A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. ICD10CM_2017:E75.0|ICD10CM_2017:E75.00|MSH2017_2016_08_12:D020143|SNOMEDCT_US_2016_09_01:33316007 C4072987 Yellow/white lesions of the macula Yellow/white lesions of the macula HPO2016_07_04:HP:0030500 C3553999 Peroxisome biogenesis disorder 10a (zellweger) PBD10A | PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) OMIM2016_04_17:603164|OMIM2016_04_17:614882 C0239842 Tremor of hands HAND TREMOR | Hand tremor | Hand tremors | Tremor of hand | Tremor of hands | Tremors (in hands) | hand tremor | hand tremors | hands tremor | hands tremors | tremor hand | tremor hands | tremor of hands HPO2016_07_04:HP:0002378|OMIM2016_04_17:MTHU009359|OMIM2016_04_17:MTHU042385 C0742090 Cerebral parietal cva CEREBRAL PARIETAL CVA C1866675 Biconvex vertebral bodies Biconvex vertebral bodies HPO2016_07_04:Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates. [HPO:probinson] HPO2016_07_04:HP:0004625|OMIM2016_04_17:MTHU015497 C4024210 Lester's sign Lester's sign HPO2016_07_04:A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape. [HPO:probinson] HPO2016_07_04:HP:0009781 C1835698 Keratitis, hereditary Dominantly inherited keratitis | KERATITIS, HEREDITARY | Keratitis, hereditary MSH2017_2016_08_12:C537022|OMIM2016_04_17:148190 C1854125 Diabetes mellitus, insulin-dependent, 18 DIABETES MELLITUS, INSULIN-DEPENDENT, 18 | Diabetes Mellitus, Insulin-Dependent, 18 | IDDM18 | INSULIN-DEPENDENT DIABETES MELLITUS 18 | Insulin-Dependent Diabetes Mellitus 18 MSH2017_2016_08_12:C565315|OMIM2016_04_17:605598 C0809999 Conditions associated with dizziness or vertigo Conditions associated with dizziness or vertigo C0220987 Hereditary orotic aciduria Hereditary Orotic Aciduria | Hereditary orotic aciduria | Hereditary orotic aciduria (disorder) | Hereditary orotic aciduria, NOS | OROTIC ACIDURIA, HEREDITARY | Orotic aciduria, hereditary NCI2016_02D:An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine. SNOMEDCT_US_2016_09_01:16242007 C1708603 Keratinizing paranasal sinus squamous cell carcinoma Keratinizing Paranasal Sinus Squamous Cell Carcinoma NCI2016_02D:A squamous cell carcinoma that arises from the paranasal sinuses and is characterized by prominent production of keratin. C0730307 Cancer-associated retinopathy Cancer Associated Retinopathy | Cancer associated retinopathy | Cancer-Associated Retinopathies | Cancer-Associated Retinopathy | Carcinoma associated retinopathy | Carcinoma associated retinopathy (disorder) | Carcinoma-associated retinopathy | Carcinoma-associated retinopathy (disorder) | Retinopathies, Cancer-Associated | Retinopathy, Cancer-Associated | cancer associated retinopathy MSH2017_2016_08_12:D059545|SNOMEDCT_US_2016_09_01:312940006 C0002448 Ameloblastoma ADAMANTINOMA | AMELOBLASTOMA | AMELOBLASTOMA, UNDETERMINED | Adamantinoma | Ameloblastoma | Ameloblastoma (morphologic abnormality) | Ameloblastoma NOS | Ameloblastoma [Disease/Finding] | Ameloblastoma, NOS | Ameloblastomas | EPITHELIOMA ADAMANTINUM | [M]Ameloblastoma NOS | [M]Ameloblastoma NOS (morphologic abnormality) | adamantinoma | ameloblastoma MSH2017_2016_08_12:An immature epithelial tumor of the JAW originating from the epithelial rests of Malassez or from other epithelial remnants of the ENAMEL from the developmental period. It is a slowly growing tumor, usually benign, but displays a marked propensity for invasive growth. | NCI2016_02D:The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize. | NCI2016_CDISC_1602D:A odontogenic neoplasm arising from the epithelial component of the embryonic tooth of undetermined malignancy status. MSH2017_2016_08_12:D000564|SNOMEDCT_US_2016_09_01:189902002|SNOMEDCT_US_2016_09_01:20462008 C2609247 Adrenal incidentaloma Adrenal incidentaloma | Adrenal incidentaloma (disorder) | adrenal incidentaloma | adrenal incidentaloma (diagnosis) MSH2017_2016_08_12:C538238|SNOMEDCT_US_2016_09_01:97881000119105 C0744641 Intermittent migraine headaches HEADACHE MIGRAINE INTERMITTENT | Intermittent migraine headaches HPO2016_07_04:HP:0002076|OMIM2016_04_17:MTHU029002 C1257958 Glucose metabolism disorders Disorder of Glucose Metabolism | Disorder of glucose metabolism | Disorder of glucose metabolism (disorder) | Disorder, Glucose Metabolic | Disorder, Glucose Metabolism | Disorders, Glucose Metabolic | Disorders, Glucose Metabolism | Glucose Metabolic Disorder | Glucose Metabolic Disorders | Glucose Metabolism Disorder | Glucose Metabolism Disorders | Glucose Metabolism Disorders [Disease/Finding] | Metabolic Disorder, Glucose | Metabolic Disorders, Glucose | Metabolism Disorder, Glucose | Metabolism Disorders, Glucose | disorders glucose metabolism | disorders of glucose metabolism | disorders of glucose metabolism (diagnosis) | glucose metabolism disorders | metabolic glucose disorders MSH2017_2016_08_12:Pathological conditions in which the BLOOD GLUCOSE cannot be maintained within the normal range, such as in HYPOGLYCEMIA and HYPERGLYCEMIA. Etiology of these disorders varies. Plasma glucose concentration is critical to survival for it is the predominant fuel for the CENTRAL NERVOUS SYSTEM. | NCI2016_02D:A metabolic disorder characterized by abnormal blood glucose levels. MSH2017_2016_08_12:D044882|SNOMEDCT_US_2016_09_01:126877002 C1849094 Spinocerebellar ataxia, autosomal recessive 3 SCABD | SCAR3 | SPINOCEREBELLAR ATAXIA WITH BLINDNESS AND DEAFNESS | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 | Spinocerebellar ataxia with blindness and deafness | Spinocerebellar ataxia, autosomal recessive 3 MSH2017_2016_08_12:C537309|OMIM2016_04_17:271250 C0393718 Catamenial epilepsy Catamenial epilepsy | Menstrual epilepsy | Menstrual epilepsy (disorder) | catamenial epilepsy | epilepsy catamenial | epilepsy menstrual SNOMEDCT_US_2016_09_01:230444006 C0040434 Discoloration tooth DISCOLORATION TOOTH | Discoloration of teeth NOS | Discoloration of tooth | Discoloration tooth | Discoloration, Tooth | Discolorations, Tooth | Discolored teeth | Discolored tooth | Discolouration of tooth | Discolouration tooth | Discoloured tooth | STAIN TOOTH | Stain tooth | Staining of teeth | Staining of teeth NOS | Staining of tooth | Staining of tooth (disorder) | TEETH STAINED | TEETH STAINING | TOOTH DISCOLORATION | TOOTH DISCOLOURATION | Teeth stained | Teeth staining | Teeth--Discoloration | Tooth Discoloration | Tooth Discoloration [Disease/Finding] | Tooth Discolorations | Tooth color abnormal | Tooth discoloration | Tooth discolored | Tooth discolored (finding) | Tooth discolouration | Tooth discoloured | discoloration of teeth | discoloration of teeth (symptom) | discoloration teeth | discoloration; teeth | discolored tooth | of teeth staining | of tooth discolouration | stain teeth | stain tooth | stained teeth | stained tooth | staining teeth | staining tooth | stains teeth | stains tooth | teeth discoloration | teeth discoloration (physical finding) | teeth stain | teeth staining | tooth discolor | tooth discoloration | tooth stain | tooth stain (physical finding) | tooth stain was noted | tooth staining MSH2017_2016_08_12:Any change in the hue, color, or translucency of a tooth due to any cause. Restorative filling materials, drugs (both topical and systemic), pulpal necrosis, or hemorrhage may be responsible. (Jablonski, Dictionary of Dentistry, 1992, p253) | NCI2016_02D:A change in tooth color. Causes may be local or systemic and include tobacco use, foods, dental plaques, caries, restorative filling materials, trauma, medications, infections, hereditary diseases, and nutritional deficiencies. | NCI2016_CTCAE_1602D:A disorder characterized by a change in tooth hue or tint. | NCI2016_NICHD_1602D:Abnormal tooth color. ICD10CM_2017:K03.6|MSH2017_2016_08_12:D014075|OMIM2016_04_17:MTHU013191|OMIM2016_04_17:MTHU037423|SNOMEDCT_US_2016_09_01:155635009|SNOMEDCT_US_2016_09_01:234978004|SNOMEDCT_US_2016_09_01:278679009 C0406357 Skin peeling disorder Skin peeling disorder | Skin peeling disorder (disorder) SNOMEDCT_US_2016_09_01:238643009 C3900199 45,x/46,xy mixed gonadal dysgenesis 45,X/46,XY Mixed Gonadal Dysgenesis NCI2016_02D:A congenital condition characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. 45,X/46,XY mosaic is the most common form of mixed gonadal dysgenesis. C0278675 Stage i renal cell carcinoma Carcinoma kidney stage I | Hypernephroma stage I | Kidney cancer stage I | Kidney carcinoma stage I | Renal Cell Cancer Stage I | Renal Cell Carcinoma, Stage I | Renal cancer stage I | Renal carcinoma stage I | Renal cell carcinoma stage I | Stage I Renal Cell Cancer | Stage I Renal Cell Cancer AJCC v6 | Stage I Renal Cell Cancer AJCC v7 | Stage I Renal Cell Carcinoma | hypernephroma, stage I | kidney cancer, stage I | renal cell cancer, stage I | renal cell carcinoma, stage I | stage I hypernephroma | stage I kidney cancer | stage I renal cell cancer | stage I renal cell carcinoma NCI2016_02D:Stage I includes: T1, N0, M0. T1: Lesions have been divided into T1a and T1b. T1a is defined as tumor 4 cm or less in greatest dimension, limited to the kidney. T1b is defined as tumor greater than 4 cm but not more than 7 cm in greatest dimension, limited to the kidney. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.) | NCI2016_NCI-GLOSS_1602D:The tumor is 7 centimeters or smaller and is found in the kidney only. C1839304 Decreased number of cd4+ t cells Abnormality of CD4+ T cells | Decreased number of CD4+ T cells | Decreased numbers of CD4+ T cells HPO2016_07_04:A decreased count of circulating CD4-positive helper T cells. [HPO:probinson] HPO2016_07_04:HP:0005407|OMIM2016_04_17:MTHU006896|OMIM2016_04_17:MTHU046777 C0349623 Primary melanocytic lesion of meninges CNS Primary Melanocytic Lesions | Central Nervous System Primary Melanocytic Lesions | Primary Melanocytic Lesion of Meninges | Primary Melanocytic Lesions of CNS | Primary Melanocytic Lesions of Central Nervous System | Primary Melanocytic Lesions of the CNS | Primary Melanocytic Lesions of the Central Nervous System | Primary melanocytic lesion of meninges | Primary melanocytic lesion of meninges (diagnosis) | Primary melanocytic lesion of meninges (disorder) | meningeal neoplasm primary melanocytic lesion NCI2016_02D:A benign or malignant, circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes diffuse melanocytosis, leptomeningeal melanoma, and melanocytoma. SNOMEDCT_US_2016_09_01:277523004 C0266241 Congenital absence of bile duct Agenesis of bile duct | BILE DUCTS ABSENCE OF (CONGENITAL) | Bile ducts absence of (congenital) | Congenital absence - bile duct | Congenital absence of bile duct | Congenital absence of bile duct (disorder) | Congenital absence of bile duct or passage | Congenital absence of bile ducts | Congenital absence of common bile duct or passage | bile duct; absent | bile duct; agenesis SNOMEDCT_US_2016_09_01:1287007|SNOMEDCT_US_2016_09_01:204776006 C1518234 Malignant ovarian serous tumor Malignant Ovarian Serous Tumor NCI2016_02D:An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma. C1855772 Absent corpus callosum cataract immunodeficiency Absent corpus callosum cataract immunodeficiency | IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM | VICI SYNDROME | VICIS | Vici syndrome MSH2017_2016_08_12:C535566|OMIM2016_04_17:242840|OMIM2016_04_17:615068 C0730285 Diabetic macular edema Diabetic macular edema | Diabetic macular edema (disorder) | Diabetic macular oedema | diabetes with diabetic retinopathy with macular edema | diabetes with diabetic retinopathy with macular edema (diagnosis) | diabetic macular edema | diabetic macular oedema | edema diabetic macular ICD9CM_2014:362.07|SNOMEDCT_US_2016_09_01:312912001 C1832976 Cone-rod dystrophy 5 CONE-ROD DYSTROPHY 5 | CORD5 | Cone-Rod Dystrophy 5 MSH2017_2016_08_12:C563415|OMIM2016_04_17:600977|OMIM2016_04_17:608921 C0030489 Paraproteinemias Paraimmunoglobulinemia | Paraimmunoglobulinemias | Paraproteinaemia | Paraproteinaemia NOS | Paraproteinemia | Paraproteinemia (disorder) | Paraproteinemia NOS | Paraproteinemia NOS (disorder) | Paraproteinemias | Paraproteinemias [Disease/Finding] | paraproteinaemia | paraproteinemia | paraproteinemias MSH2017_2016_08_12:A group of related diseases characterized by an unbalanced or disproportionate proliferation of immunoglobulin-producing cells, usually from a single clone. These cells frequently secrete a structurally homogeneous immunoglobulin (M-component) and/or an abnormal immunoglobulin. | NCI2016_02D:A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Paraproteinemias may be seen in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases. --2004 MSH2017_2016_08_12:D010265|OMIM2016_04_17:MTHU028348|SNOMEDCT_US_2016_09_01:123061006|SNOMEDCT_US_2016_09_01:190816000|SNOMEDCT_US_2016_09_01:278501001|SNOMEDCT_US_2016_09_01:35601003 C0221069 Anterior spinal artery syndrome ANTERIOR SPINAL ARTERY SYNDROME | Anterior Spinal Artery Syndrome | Anterior Spinal Artery Syndrome [Disease/Finding] | Anterior spinal artery occlusion syndrome | Anterior spinal artery occlusion syndrome (disorder) | Anterior spinal artery syndrome | BECK SYNDROME | Beck's syndrome | Occlusion of anterior spinal artery | Syndrome, Anterior Spinal Artery | Ventral medullary syndrome | anterior spinal artery syndrome | beck syndrome | beck's syndrome | becks syndrome | syndrome; anterior spinal artery MSH2017_2016_08_12:Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50) MSH2017_2016_08_12:D020759|SNOMEDCT_US_2016_09_01:2972007 C0039980 Chest injury CHEST INJURY | Chest Injuries | Chest Injuries and Disorders | Chest Injury | Chest injury | Chest injury (disorder) | Injuries to the thorax | Injuries to the thorax (S20-S29) | Injuries, Chest | Injuries, Thoracic | Injury to chest | Injury, Chest | Injury, Thoracic | Injury-Thoracic | Thoracic Injuries | Thoracic Injuries [Disease/Finding] | Thoracic Injury | Traumatic chest injury NOS | Traumatic injury to chest | Unspecified injury of thorax | [X]Injuries to the thorax | [X]Injuries to the thorax (disorder) | chest disorders injuries | chest injuries | chest injury | chest trauma | chest traumas | injuries chest | injuries thorax | injury of thorax | injury of thorax (diagnosis) | injury thoracic | injury thorax | injury; thorax | thoracic injuries | thoracic injury | thorax injuries | thorax; injury | thorax; wound | trauma chest | wound; thorax CSP2006:damage inflicted on the upper part of the trunk as the direct or indirect result of an external force, with or without disruption of structural continuity. | MEDLINEPLUS_20151021:The chest is the part of the body between your neck and your abdomen. It includes the ribs and breastbone. Inside your chest are several organs, including the heart, lungs, and esophagus. The pleura, a large thin sheet of tissue, lines the inside of the chest cavity.
Chest injuries and disorders include
Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells. This leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage.
A genetic problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one from each parent. If you only have one sickle cell gene, it's called sickle cell trait. About 1 in 12 African Americans has sickle cell trait.
The most common symptoms are pain and problems from anemia. Anemia can make you feel tired or weak. In addition, you might have shortness of breath, dizziness, headaches, or coldness in the hands and feet.
A blood test can show if you have the trait or anemia. Most states test newborn babies as part of their newborn screening programs.
Sickle cell anemia has no widely available cure. Treatments can help relieve symptoms and lessen complications. Researchers are investigating new treatments such as blood and marrow stem cell transplants, gene therapy, and new medicines.
NIH: National Heart, Lung, and Blood Institute
| MSH2017_2016_08_12:A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S. | NCI2016_02D:A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. | NCI2016_NCI-GLOSS_1602D:An inherited disease in which the red blood cells have an abnormal crescent shape, block small blood vessels, and do not last as long as normal red blood cells. Sickle cell anemia is caused by a mutation (change) in one of the genes for hemoglobin (the substance inside red blood cells that binds to oxygen and carries it from the lungs to the tissues). It is most common in people of West and Central African descent. ICD10CM_2017:D57|ICD10CM_2017:D57.1|ICD9CM_2014:282.6|ICD9CM_2014:282.60|MSH2017_2016_08_12:D000755|OMIM2016_04_17:141900|OMIM2016_04_17:603903|SNOMEDCT_US_2016_09_01:127040003|SNOMEDCT_US_2016_09_01:154798006|SNOMEDCT_US_2016_09_01:191194009|SNOMEDCT_US_2016_09_01:191195005|SNOMEDCT_US_2016_09_01:191199004|SNOMEDCT_US_2016_09_01:276267006|SNOMEDCT_US_2016_09_01:417357006|SNOMEDCT_US_2016_09_01:80046004 C0153167 Asymptomatic neurosyphilis Asymptomatic Neurosyphilis | Asymptomatic neurosyphilis | Asymptomatic neurosyphilis (disorder) | Neurosyphilis, Asymptomatic | asymptomatic neurosyphilis | asymptomatic neurosyphilis (diagnosis) | asymptomatic; neurosyphilis | neurosyphilis; asymptomatic ICD10CM_2017:A52.2|ICD9CM_2014:094.3|MSH2017_2016_08_12:D009494|SNOMEDCT_US_2016_09_01:37754005 C0279639 Mucinous adenocarcinoma of the colon Colloid Adenocarcinoma of Colon | Colloid Adenocarcinoma of the Colon | Colloid Colon Adenocarcinoma | Colloidal Adenocarcinoma of Colon | Colloidal Adenocarcinoma of the Colon | Colloidal Colon Adenocarcinoma | Colon Colloid Adenocarcinoma | Colon Colloidal Adenocarcinoma | Colon Mucinous Adenocarcinoma | Colonic Colloid Adenocarcinoma | Colonic Colloidal Adenocarcinoma | Colonic Mucinous Adenocarcinoma | Mucinous Adenocarcinoma of Colon | Mucinous Adenocarcinoma of the Colon | Mucinous Colon Adenocarcinoma | Mucinous adenocarcinoma of colon | adenocarcinoma of the colon, colloid | colloid adenocarcinoma of the colon | colon, mucinous adenocarcinoma of the | mucinous adenocarcinoma of the colon NCI2016_02D:An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion. C1852470 Extrapyramidal muscular rigidity Extrapyramidal muscular rigidity HPO2016_07_04:Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). [HPO:probinson] HPO2016_07_04:HP:0007076|OMIM2016_04_17:MTHU018790 C1858855 Diffuse swelling of cerebral white matter Diffuse swelling of cerebral white matter HPO2016_07_04:HP:0007341|OMIM2016_04_17:MTHU004936 C1835672 Palmoplantar keratoderma with deafness Diffuse palmoplantar keratoderma with deafness | Focal palmoplantar keratoderma with sensorineural deafness | Hereditary palmoplantar keratoderma with deafness | KERATODERMA, PALMOPLANTAR, WITH DEAFNESS | Keratoderma palmoplantar deafness | Keratoderma palmoplantar, with deafness | Keratoderma, Palmoplantar, With Deafness | Palmoplantar Hyperkeratosis-Deafness Syndrome | Palmoplantar Hyperkeratosis-Hearing Loss Syndrome | Palmoplantar Keratoderma with Deafness | Palmoplantar Keratoderma-Deafness Syndrome | Palmoplantar Keratoderma-Hearing Loss Syndrome | Palmoplantar keratoderma and sensorineural deafness | Ppk with Deafness | Ppk-Deafness Syndrome MSH2017_2016_08_12:C536152|OMIM2016_04_17:121011|OMIM2016_04_17:148350|OMIM2016_04_17:590080 C0206683 Papillary and follicular adenocarcinoma Carcinoma, Papillary, Follicular | Carcinoma, Papillary, Follicular [Disease/Finding] | Follicular Variant Thyroid Gland Papillary Carcinoma | Mixed papillary and follicular carcinoma | Papillary + follicular adenoca | Papillary adenocarcinoma - follicular variant | Papillary adenocarcinoma, follicular variant | Papillary and Follicular Adenocarcinoma | Papillary and Follicular Carcinoma | Papillary and follicular adenocarcinoma | Papillary and follicular adenocarcinoma (morphologic abnormality) | Papillary and follicular carcinoma | Papillary carcinoma - follicular variant | Papillary carcinoma, follicular variant | Papillary carcinoma, follicular variant (morphologic abnormality) | Thyroid Gland Papillary and Follicular Carcinoma | adenocarcinoma; follicular with papillary | adenocarcinoma; papillary with follicular | adenocarcinoma; papillary, follicular variant | carcinoma; follicular with papillary | carcinoma; papillary with follicular | carcinoma; papillary, follicular variant | follicular; adenocarcinoma with papillary | follicular; carcinoma, with papillary | papillary; adenocarcinoma with follicular | papillary; adenocarcinoma, follicular variant | papillary; carcinoma, follicular variant | papillary; carcinoma, with follicular MSH2017_2016_08_12:A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271) MSH2017_2016_08_12:D018265|SNOMEDCT_US_2016_09_01:189643000|SNOMEDCT_US_2016_09_01:21968007 C1866785 Spheroid body myopathy Autosomal dominant spheroid body myopathy | MYOPATHY, SPHEROID BODY | Spheroid body myopathy MSH2017_2016_08_12:C000598645|OMIM2016_04_17:182920|OMIM2016_04_17:604103 C4025097 Ventilator dependence with inability to wean Ventilator dependence with inability to wean HPO2016_07_04:HP:0005946 C2930833 Irritable heart IRRITABLE HEART | Irritable heart | SOLDIERS HEART | Soldiers heart MSH2017_2016_08_12:C531763|OMIM2016_04_17:604715 C0016507 Acquired foot deformities Acquired Foot Deformities | Acquired Foot Deformity | Acquired deformity of foot | Acquired deformity of foot (disorder) | Acquired deformity of the foot | Acquired foot deformities | Acquired pes | Acquired pes (disorder) | Deformities, Acquired Foot | Deformity, Acquired Foot | Foot Deformities, Acquired | Foot Deformities, Acquired [Disease/Finding] | Foot Deformity, Acquired | acquired deformity of foot | acquired deformity of foot (diagnosis) MSH2017_2016_08_12:Distortion or disfigurement of the foot, or a part of the foot, acquired through disease or injury after birth. MSH2017_2016_08_12:D005531|SNOMEDCT_US_2016_09_01:111260007|SNOMEDCT_US_2016_09_01:240244006|SNOMEDCT_US_2016_09_01:295051000119105 C0151669 Gamma globulins increased GAMMA GLOBULINS INCREASED | Gamma globulin increased | Gamma globulins increased | Increased antibody level in blood | Increased gamma globulin | gamma globulins increased | increased gamma globulin HPO2016_07_04:An increased level of gamma globulin (immunoglobulin) in the blood. [HPO:probinson] HPO2016_07_04:HP:0010702 C1836451 Muscle atrophy, lower limb, distal Distal lower limb amyotrophy | Distal muscle atrophy, lower limbs | Lower leg amyotrophy | Lower limb degeneration | Muscle atrophy, lower limb, distal HPO2016_07_04:Muscular atrophy of distal leg muscles. [HPO:probinson] HPO2016_07_04:HP:0008944|OMIM2016_04_17:MTHU000978|OMIM2016_04_17:MTHU052528 C1862939 Amyotrophic lateral sclerosis 1 ALS1 | AMYOTROPHIC LATERAL SCLEROSIS 1 | AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL DOMINANT | AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | Amyotrophic Lateral Sclerosis, Autosomal Dominant | Amyotrophic Lateral Sclerosis, Familial | Amyotrophic lateral sclerosis 1 | FALS | Familial amyotrophic lateral sclerosis | amyotrophic lateral sclerosis autosomal dominant | autosomal dominant ALS | autosomal dominant ALS (amyotrophic lateral sclerosis) | autosomal dominant Lou Gehrig's disease | autosomal dominant amyotrophic lateral sclerosis | autosomal dominant amyotrophic lateral sclerosis (diagnosis) MSH2017_2016_08_12:C531617|OMIM2016_04_17:105400|OMIM2016_04_17:147450 C0021359 Infertility Cannot achieve a pregnancy | Difficulty conceiving | INFERTILITY | Infertile | Infertile (finding) | Infertility | Infertility NOS | Infertility [Disease/Finding] | Infertility problem | Infertility, NOS | Not fertile | STERILITY | Sterile | Sterility | Sterility (finding) | Sterility, NOS | Unable (to);conceive | Unable (to);get pregnant | get pregnant unable | inability to conceive | inability to conceive (infertility) | inability to conceive (symptom) | infertile | infertility | infertility (symptom) | sterile | sterility | unable (to) get pregnant | unable to conceive | unable to get pregnant CHV2011_02:Unable to produce children | MEDLINEPLUS_20151021:Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility.
Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found.
There are treatments that are specifically for men or for women. Some involve both partners. Drugs, assisted reproductive technology, and surgery are common treatments. Happily, many couples treated for infertility go on to have babies.
NIH: National Institute of Child Health and Human Development
| MSH2017_2016_08_12:A reduced or absent capacity to reproduce. | NCI2016_02D:Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues. | NCI2016_NCI-GLOSS_1602D:The inability to produce children. HPO2016_07_04:HP:0000789|MSH2017_2016_08_12:D007246|OMIM2016_04_17:MTHU006969|SNOMEDCT_US_2016_09_01:15296000|SNOMEDCT_US_2016_09_01:162186008|SNOMEDCT_US_2016_09_01:289179008|SNOMEDCT_US_2016_09_01:8619003 C3552825 Jerk-locked premyoclonus spikes Jerk-locked premyoclonus spikes HPO2016_07_04:Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG. [HPO:probinson, pmid:1464676] HPO2016_07_04:HP:0001351|OMIM2016_04_17:MTHU039495 C0206661 Gonadoblastoma GBY | GBY - Gonadoblastoma | GONADOBLASTOMA | Gonadoblastoma | Gonadoblastoma (morphologic abnormality) | Gonadoblastoma [Disease/Finding] | Gonadoblastomas | Gonocytoma | gonadoblastoma | gonadoblastomas HPO2016_07_04:The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. [HPO:probinson] | MSH2017_2016_08_12:A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY. | NCI2016_02D:A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype. HPO2016_07_04:HP:0000150|MSH2017_2016_08_12:D018238|OMIM2016_04_17:424500|OMIM2016_04_17:MTHU014910|SNOMEDCT_US_2016_09_01:74751003 C0155804 Maxillary sinusitis acute Acute antritis | Acute antritis (disorder) | Acute maxillary sinusitis | Acute maxillary sinusitis (disorder) | Acute maxillary sinusitis, unspecified | Acute sinusitis, maxillary | MAXILLARY SINUSITIS ACUTE | acute maxillary sinusitis | acute maxillary sinusitis (diagnosis) | acute; antritis | acute; sinusitis, maxillary | antritis; acute | maxillary; sinusitis, acute | sinusitis; acute, maxillary | sinusitis; maxillary, acute ICD10CM_2017:J01.0|ICD10CM_2017:J01.00|ICD9CM_2014:461.0|SNOMEDCT_US_2016_09_01:155499007|SNOMEDCT_US_2016_09_01:18714001|SNOMEDCT_US_2016_09_01:68272006 C0554632 Anogenital human papilloma virus infection Anogenital Human Papilloma Virus Infection | Anogenital Human Papillomavirus Infection | Anogenital human papilloma virus infection | Anogenital human papilloma virus infection (disorder) | Anogenital human papillomavirus infection | Anogenital human papillomavirus infection (disorder) | Genital wart virus infection | HPV - Anogenital human papilloma virus infection | WVI - Genital wart virus infection SNOMEDCT_US_2016_09_01:302812006 C0005639 Bisexual behavior Bisexual | Bisexuality | bisexual behavior | bisexuality MSH2017_2016_08_12:The sexual attraction or relationship between members of both the same and the opposite SEX. | NCI2016_02D:A sexual attraction to members of both sexes.(WordNet) MSH2017_2016_08_12:D001727 C1735901 Recurrent deep vein thrombosis Deep vein thrombosis recurrent | Recurrent deep vein blood clot | Recurrent deep vein thrombosis | Recurrent deep vein thrombosis (disorder) | Recurrent venous thrombosis | Venous thrombosis, recurrent HPO2016_07_04:Repeated episodes of the formation of a blot clot in a deep vein. [HPO:probinson] HPO2016_07_04:HP:0004850|OMIM2016_04_17:MTHU021345|OMIM2016_04_17:MTHU021367|SNOMEDCT_US_2016_09_01:710167004 C0751813 Chronic brain injury Brain Injuries, Chronic | Brain Injury, Chronic | Brain Injury, Chronic [Disease/Finding] | Chronic Brain Injuries | Chronic Brain Injury | Injury, Brain, Chronic | chronic brain injury MSH2017_2016_08_12:Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from DIFFUSE AXONAL INJURY; INTRACRANIAL HEMORRHAGES; BRAIN EDEMA; and other conditions. Clinical features may include DEMENTIA; focal neurologic deficits; PERSISTENT VEGETATIVE STATE; AKINETIC MUTISM; or COMA. MSH2017_2016_08_12:D020208 C4076220 Status epilepticus due to complex partial epileptic seizure Status epilepticus due to complex partial epileptic seizure | Status epilepticus due to complex partial epileptic seizure (disorder) SNOMEDCT_US_2016_09_01:290671000119100 C4021157 Generalized abnormality of skin Generalised abnormality of skin | Generalized abnormality of skin HPO2016_07_04:An abnormality of the skin that is not localized to any one particular region. [DDD:cmoss] HPO2016_07_04:HP:0011354 C2987191 Pancreatic intraductal papillary mucinous neoplasm, gastric-type Gastric foveolar | Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type NCI2016_02D:A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that are similar to gastric foveolar epithelial cells. C4072849 Scapular weakness Scapular weakness HPO2016_07_04:HP:0003691 C1862474 Decreased facial expression Decreased facial expression | Decreased facial expressions HPO2016_07_04:A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. [HPO:probinson] HPO2016_07_04:HP:0000338|HPO2016_07_04:HP:0004673|OMIM2016_04_17:MTHU019420 C0334008 Pachyderma Pachyderma | Pachyderma (morphologic abnormality) | Pachyderma, NOS | Pachydermia | Thickened skin | Thickening of skin | Thickening of skin (disorder) | pachyderma | pachydermia HPO2016_07_04:Laminar thickening of skin. [HPO:sdoelken] HPO2016_07_04:HP:0001072|OMIM2016_04_17:MTHU005063|OMIM2016_04_17:MTHU011883|SNOMEDCT_US_2016_09_01:17417006|SNOMEDCT_US_2016_09_01:267868003|SNOMEDCT_US_2016_09_01:69943009 C1844548 Hypoplastic finger Hypoplastic digits | Hypoplastic finger | Hypoplastic fingers | Hypoplastic/small fingers | Short finger HPO2016_07_04:Abnormally short finger associated with developmental hypoplasia. [HPO:probinson] HPO2016_07_04:HP:0009381|OMIM2016_04_17:MTHU007672|OMIM2016_04_17:MTHU037591 C1853438 Inflammatory bowel disease 5 IBD5 | INFLAMMATORY BOWEL DISEASE 5 | Inflammatory Bowel Disease 5 MSH2017_2016_08_12:C565234|OMIM2016_04_17:606348 C1857811 Deafness, autosomal recessive 49 DEAFNESS, AUTOSOMAL RECESSIVE 49 | DFNB49 | Deafness, Autosomal Recessive 49 MSH2017_2016_08_12:C565717|OMIM2016_04_17:610153|OMIM2016_04_17:610572 C1852271 Auditory neuropathy AUDITORY NEUROPATHY | Auditory dys-synchrony | Auditory neuropathy | Familial auditory neuropathy | Progressive auditory neuropathy | auditory neuropathy | auditory neuropathy (diagnosis) MSH2017_2016_08_12:C538268|OMIM2016_04_17:561000|OMIM2016_04_17:MTHU018711 C1855751 Bulbous nasal tip Bulbous nasal tip HPO2016_07_04:HP:0000414|OMIM2016_04_17:MTHU012111 C1300121 Seizures complicating intracranial haemorrhage Seizures complicating intracranial haemorrhage | Seizures complicating intracranial hemorrhage | Seizures complicating intracranial hemorrhage (disorder) SNOMEDCT_US_2016_09_01:371114002 C1969810 Febrile convulsions, familial, 8 FEB8 | FEBRILE CONVULSIONS, FAMILIAL, 8 | FEBRILE SEIZURES, FAMILIAL, 8 | Febrile Convulsions, Familial, 8 MSH2017_2016_08_12:C566975|OMIM2016_04_17:137164|OMIM2016_04_17:611277 C1848172 Night blindness, congenital stationary, type 2a CSNB, INCOMPLETE, X-LINKED | CSNB, Incomplete, X-Linked | CSNB2 | CSNB2A | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A | Night Blindness, Congenital Stationary, Type 2 | Night Blindness, Congenital Stationary, Type 2A | X-linked congenital stationary night blindness | congenital stationary night blindness - type 2a | congenital stationary night blindness - type 2a (diagnosis) MSH2017_2016_08_12:C536122|OMIM2016_04_17:300071|OMIM2016_04_17:300110 C0795905 Cantu syndrome CANTU SYNDROME | Cantu syndrome | Cantu's syndrome | Cantu's syndrome (disorder) | HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA | Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome | Hypertrichotic osteochondrodysplasia | dwarfism-cerebral atrophy-keratosis follicularis syndrome JABL99:A syndrome of microcephaly, dwarfism, keratosis follicularis, delayed psychomotor development, and absence of hair, eyebrows and eyelashes. MSH2017_2016_08_12:C535572|OMIM2016_04_17:239850|OMIM2016_04_17:601439|SNOMEDCT_US_2016_09_01:239087008 C3280641 Complement component 4b deficiency C4B DEFICIENCY | C4BD | C4b deficiency | COMPLEMENT COMPONENT 4B DEFICIENCY | Complement component 4B deficiency | Decreased serum complement C4b HPO2016_07_04:HP:0045044|OMIM2016_04_17:614379 C3887959 Mental retardation, x-linked 49 MENTAL RETARDATION, X-LINKED 49 | MRX49 OMIM2016_04_17:300114 C1136321 Hiv-associated lipodystrophy syndrome HIV Associated Lipodystrophy | HIV Associated Lipodystrophy Syndrome | HIV Lipodystrophy Syndrome | HIV-Associated Lipodystrophy | HIV-Associated Lipodystrophy Syndrome | HIV-Associated Lipodystrophy Syndrome [Disease/Finding] | HIV-associated lipodystrophy syndrome | Lipodystrophy Syndrome, HIV | Lipodystrophy Syndrome, HIV-Associated | Lipodystrophy, HIV-Associated MSH2017_2016_08_12:Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors. MSH2017_2016_08_12:D039682 C0278818 Adrenocortical carcinoma, recurrent Recurrent Adrenal Cortex Cancer | Recurrent Adrenal Cortex Carcinoma | Recurrent Adrenocortical Carcinoma | Recurrent Carcinoma of Adrenal Cortex | Recurrent Carcinoma of the Adrenal Cortex | Relapsed Adrenal Cortex Carcinoma | Relapsed Adrenocortical Carcinoma | Relapsed Carcinoma of Adrenal Cortex | Relapsed Carcinoma of the Adrenal Cortex | adrenocortical carcinoma, recurrent | carcinoma, adrenocortical recurrent | recurrent adrenocortical cancer | recurrent adrenocortical carcinoma NCI2016_02D:The reemergence of adrenal cortex carcinoma after a period of remission. C4020810 White matter dysmyelination/demyelination White matter dysmyelination/demyelination HPO2016_07_04:HP:0007266 C0796244 Mental retardation, x-linked, with or without seizures, arx-related (disorder) MENTAL RETARDATION, X-LINKED 29 | MENTAL RETARDATION, X-LINKED 32 | MENTAL RETARDATION, X-LINKED 33 | MENTAL RETARDATION, X-LINKED 38 | MENTAL RETARDATION, X-LINKED 43 | MENTAL RETARDATION, X-LINKED 54 | MENTAL RETARDATION, X-LINKED 76 | MENTAL RETARDATION, X-LINKED 87 | MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED | MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) | MRX29 | MRX32 | MRX33 | MRX38 | MRX43 | MRX54 | MRX76 | MRX87 | MRXARX | Mental Retardation, X-Linked 29 | Mental Retardation, X-Linked 32 | Mental Retardation, X-Linked 33 | Mental Retardation, X-Linked 38 | Mental Retardation, X-Linked 43 | Mental Retardation, X-Linked 54 | Mental Retardation, X-Linked 76 | Mental Retardation, X-Linked 87 | Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related | Mrx29 | Mrx32 | Mrx33 | Mrx38 | Mrx43 | Mrx54 | Mrx76 | Mrx87 | X-linked mental retardation 29 | X-linked mental retardation 29 (MRX29, XLMR29) | X-linked mental retardation 32 | X-linked mental retardation 32 (MRX32, XLMR32) | X-linked mental retardation 33 | X-linked mental retardation 33 (MRX33, XLMR33) | X-linked mental retardation 36 | X-linked mental retardation 36 (MRX36, XLMR36) | X-linked mental retardation 38 | X-linked mental retardation 38 (MRX38, XLMR38) JABL99:A nonsyndromic form of mental retardation with inconsistent abnormalities, including delayed motor development and relative microcephaly. | JABL99:Nonsyndromic mental retardation with delayed motor and speech development. | JABL99:Nonsyndromic mental retardation with inconsistent minor abnormalities which include delayed speech, large head, brachycephaly, full lips, short and broad fingers, diabetes mellitus, and long ears. | JABL99:Nonsyndromic mental retardation with macrocephaly as the only constant features. | JABL99:Nonsyndromic mental retardation. MSH2017_2016_08_12:C563150|OMIM2016_04_17:300382|OMIM2016_04_17:300419 C0436596 On examination - apathetic Apathy | Apathy (& O/E) | Apathy (& O/E) (finding) | O/E - apathetic | On examination - apathetic | On examination - apathetic (context-dependent category) | On examination - apathetic (finding) SNOMEDCT_US_2016_09_01:139944009|SNOMEDCT_US_2016_09_01:162719003|SNOMEDCT_US_2016_09_01:269006008 C4021161 Multiple suture craniosynostosis Multiple suture craniosynostosis | Multisutural craniosynostosis HPO2016_07_04:Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified. [DDD:awilkie] HPO2016_07_04:HP:0011324 C0039786 Therapeutic communities Communities, Therapeutic | Community, Therapeutic | Therapeutic Communities | Therapeutic Community | Therapeutic communities | Therapeutic community | Therapeutic community technique | community therapeutic | therapeutic communities | therapeutic community MSH2017_2016_08_12:Psychotherapeutic technique which emphasizes socioenvironmental and interpersonal influences in the resocialization and rehabilitation of the patient. The setting is usually a hospital unit or ward in which professional and nonprofessional staff interact with the patients. | PSY2004:Institutional or residential treatment setting emphasizing social and environmental factors in therapy and management and rehabilitation, usually of psychiatric or drug rehabilitation patients. MSH2017_2016_08_12:D013808 C4024729 Distal tapering of metatarsals Distal tapering of metatarsals HPO2016_07_04:HP:0008133 C3279571 Ectopic posterior pituitary Ectopic Posterior Pituitary | Ectopic posterior pituitary HPO2016_07_04:An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis. [DDD:spark, HPO:probinson] | NCI2016_02D:Atypically located posterior pituitary gland that may be associated with anterior or posterior pituitary hormone deficiencies. HPO2016_07_04:HP:0011755|OMIM2016_04_17:MTHU034852 C0221759 Brachial plexus neuritis BRACHIAL NEURITIS | BRACHIAL NEURITIS NOS | Brachial Neuritides | Brachial Neuritis | Brachial Plexus Neuritides | Brachial Plexus Neuritis | Brachial Plexus Neuritis [Disease/Finding] | Brachial neuritis | Brachial neuritis (disorder) | Brachial neuritis, NOS | Brachial plexus neuritis | Girdle Neuropathies, Shoulder | Girdle Neuropathy, Shoulder | Neuritides, Brachial | Neuritides, Brachial Plexus | Neuritis - brachial | Neuritis, Brachial | Neuritis, Brachial Plexus | Neuropathies, Shoulder Girdle | Neuropathies, Shoulder-Girdle | Neuropathy, Shoulder Girdle | Neuropathy, Shoulder-Girdle | Parsonage Aldren Turner Syndrome | Parsonage Turner Syndrome | Parsonage-Aldren-Turner | Parsonage-Aldren-Turner Syndrome | Parsonage-Aldren-Turner syndrome | Parsonage-Turner Syndrome | Parsonage-Turner syndrome | Shoulder Girdle Neuropathies | Shoulder Girdle Neuropathy | Shoulder girdle syndrome | Shoulder-Girdle Neuropathies | Shoulder-Girdle Neuropathy | Shoulder-girdle syndrome | Syndrome, Parsonage-Aldren-Turner | Syndrome, Parsonage-Turner | amyotrophic neuralgia | brachial neuritis | brachial neuritis (diagnosis) | brachial neuritis plexus | brachial plexus neuritis | neuralgic amyotrophy | neuritis brachial | neuritis brachial nos | parsonage syndrome turners | parsonage turner syndrome | parsonage-aldren-turner syndrome | parsonage-turner syndrome | shoulder girdle syndrome | shoulder-girdle syndrome MSH2017_2016_08_12:A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6) | NCI2016_02D:An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm. ICD10CM_2017:G54.5|MSH2017_2016_08_12:D020968|SNOMEDCT_US_2016_09_01:156642003|SNOMEDCT_US_2016_09_01:26609002|SNOMEDCT_US_2016_09_01:268079007|SNOMEDCT_US_2016_09_01:3548001|SNOMEDCT_US_2016_09_01:72893007 C0014461 Granuloma eosinophilic EOSINOPHILIC GRANULOMA | Eosinophilic Granuloma | Eosinophilic Granuloma [Disease/Finding] | Eosinophilic Granulomas | Eosinophilic Xanthomatous Granuloma | Eosinophilic granuloma | Eosinophilic granuloma (clinical) | Eosinophilic granuloma (morphologic abnormality) | Eosinophilic granuloma -RETIRED- | Eosinophilic xanthomatous granuloma | Granuloma, Eosinophilic | Granulomas, Eosinophilic | Unifocal Langerhans Cell Histiocytosis | eosinophilic granuloma | eosinophilic granuloma (diagnosis) | eosinophilic; granuloma | granuloma eosinophilic | granuloma; eosinophilic | histiocytoses - unifocal eosinophilic granuloma | histiocytoses - unifocal eosinophilic granuloma (diagnosis) | unifocal eosinophilic granuloma CSP2006:most benign clinical form of Langerhans-cell histiocytosis, which involves localized nodular lesions of the gastric mucosa, small intestine, bones, lungs, or skin, with infiltration by eosinophils; the proliferating cell that appears to be responsible for the clinical manifestations is the Langerhans cell. | MSH2017_2016_08_12:The most benign and common form of Langerhans-cell histiocytosis which involves localized nodular lesions predominantly of the bones but also of the gastric mucosa, small intestine, lungs, or skin, with infiltration by EOSINOPHILS. | NCI2016_02D:A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes. ICD10CM_2017:C96.6|ICD10CM_2017:K13.4|MSH2017_2016_08_12:D004803|SNOMEDCT_US_2016_09_01:128810002|SNOMEDCT_US_2016_09_01:129000002|SNOMEDCT_US_2016_09_01:77239009 C1299436 Angina recurrent status post percutaneous transluminal coronary angioplasty Recurrent angina after percutaneous transluminal coronary angioplasty | Recurrent angina status post percutaneous transluminal coronary angioplasty | Recurrent angina status post percutaneous transluminal coronary angioplasty (diagnosis) | Recurrent angina status post percutaneous transluminal coronary angioplasty (disorder) | angina recurrent status post percutaneous transluminal coronary angioplasty SNOMEDCT_US_2016_09_01:371808007 C0154703 Upper extremity paralysis Arm paralysis | EXTREMITY PARALYSIS, UPPER | Monoplegia of upper limb | Monoplegia of upper limb (disorder) | Monoplegia of upper limb affecting unspecified side | Paralysis arm | Paralysis of arms | Paralysis of upper limb | UPPER EXTREMITY PARALYSIS | arm paralysis | arm; paralysis | monoplegia; upper limb | paralysis of arm | paralysis of arm (symptom) | paralysis; arm | upper extremity paralysis | upper limb; monoplegia ICD10CM_2017:G83.2|ICD10CM_2017:G83.20|ICD9CM_2014:344.4|ICD9CM_2014:344.40|SNOMEDCT_US_2016_09_01:41764006 C0279592 T-cell adult acute lymphoblastic leukemia ALL, adult T cell | ALL, adult T-cell | Adult Precursor T-Lymphoblastic Leukemia | Adult T Acute Lymphoblastic Leukemia | Adult T-Cell Acute Lymphoblastic Leukemia | T Cell Adult ALL | T cell acute lymphocytic leukemia, adult | T cell adult ALL | T cell adult acute lymphocytic leukemia | T cell lymphocytic leukemia, acute adult | T-Cell Adult ALL | T-Cell Adult Acute Lymphocytic Leukemia | T-cell acute lymphoblastic leukemia, adult | T-cell acute lymphocytic leukemia, adult | T-cell adult ALL | T-cell adult acute lymphoblastic leukemia | T-cell adult acute lymphocytic leukemia | T-cell lymphoblastic leukemia, acute adult | T-cell lymphocytic leukemia, acute adult | acute lymphoblastic leukemia, adult T-cell | acute lymphocytic leukemia, adult T-cell | adult ALL, T cell | adult ALL, T-cell | adult acute lymphoblastic leukemia, T-cell | adult acute lymphocytic leukemia, T-cell | adult t cell | adult t-cell | leukemia, adult acute lymphocytic T-cell | t-cell adult acute lymphoblastic leukemia NCI2016_02D:An acute T-lymphoblastic leukemia occurring in adults. C1623038 Cirrhosis Cirrhoses | Cirrhosis MSH2017_2016_08_12:D005355 C1969443 Trifunctional protein deficiency with myopathy and neuropathy 3-Hydroxyacyl-CoA Dehydrogenase, Long Chain, Deficiency | Human trifunctional protein deficiency | LCHAD | LCHAD - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | LCHAD DEFICIENCY | LCHAD Deficiency | LCHAD deficiency | LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY | Long chain 3 hydroxyacyl coA dehydrogenase deficiency | Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency | Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | Long-Chain 3-OH Acyl-CoA Dehydrogenase Deficiency | MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY | MTPD | Mitochondrial Trifunctional Protein Deficiency | Mitochondrial trifunctional protein deficiency | Mitochondrial trifunctional protein deficiency (disorder) | TFP | TFP Deficiency | TRIFUNCTIONAL PROTEIN DEFICIENCY | TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY | Trifunctional Protein Deficiency | Trifunctional Protein Deficiency With Myopathy And Neuropathy | Trifunctional enzyme deficiency | Trifunctional protein deficiency | trifunctional protein deficiencies NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symptoms may appear early or later in life and may be triggered by periods of fasting or illnesses. They include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver abnormalities, heart abnormalities, peripheral neuropathy, coma, and sudden death. HPO2016_07_04:HP:0100950|MSH2017_2016_08_12:C566945|OMIM2016_04_17:143450|OMIM2016_04_17:600890|OMIM2016_04_17:609015|OMIM2016_04_17:609016|SNOMEDCT_US_2016_09_01:237999008 C0154671 Degenerative brain disorder Brain degeneration | Brain degeneration (& [cerebral]) | Brain degeneration (& [cerebral]) (disorder) | CEREBRAL DEGENERATION | Cerebral degeneration | Cerebral degeneration (disorder) | Cerebral degeneration -RETIRED- | Cerebral degeneration NOS | Cerebral degeneration NOS (disorder) | Cerebral degeneration, NOS | Cerebral degeneration, unspecified | Cerebral degenerations NOS | Degeneration of cerebrum | Degeneration;cerebral | Degenerative brain disorder | Degenerative brain disorder (disorder) | Neuroaxonal degeneration in the brain | brain degenerative disorders | brain; degeneration | cerebral degeneration | cerebral degeneration (diagnosis) | cerebral degenerations | degeneration; brain CSP2006:result of genetic metabolic defects or damage by exogenous or endogenous toxins; characterized by cerebral cortex atrophy and progressive cerebral demyelination; dementia and mental deterioration are common. HPO2016_07_04:HP:0002059|HPO2016_07_04:HP:0007313|HPO2016_07_04:HP:0012444|ICD9CM_2014:331.9|OMIM2016_04_17:MTHU012552|OMIM2016_04_17:MTHU012889|SNOMEDCT_US_2016_09_01:154994001|SNOMEDCT_US_2016_09_01:154998003|SNOMEDCT_US_2016_09_01:192824002|SNOMEDCT_US_2016_09_01:267579001|SNOMEDCT_US_2016_09_01:267686002|SNOMEDCT_US_2016_09_01:267688001|SNOMEDCT_US_2016_09_01:418143002|SNOMEDCT_US_2016_09_01:52522001|SNOMEDCT_US_2016_09_01:73768007 C0030783 Pellagra NIACIN DEFICIENCYCleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have a cleft lip, a cleft palate, or both.
A cleft lip happens if the tissue that makes up the lip does not join completely before birth. This causes an opening in the upper lip. The opening can be a small slit or a large opening that goes through the lip into the nose. It can be on one or both sides of the lip or, rarely, in the middle of the lip.
Children with a cleft lip also can have a cleft palate. The roof of the mouth is called the "palate." With a cleft palate, the tissue that makes up the roof of the mouth does not join correctly. Babies may have both the front and back parts of the palate open, or they may have only one part open.
Children with a cleft lip or a cleft palate often have problems with feeding and talking. They also might have ear infections, hearing loss, and problems with their teeth.
Often, surgery can close the lip and palate. Cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done before 18 months. Many children have other complications. They may need additional surgeries, dental and orthodontic care, and speech therapy as they get older. With treatment, most children with clefts do well and lead a healthy life.
Centers for Disease Control and Prevention
HPO2016_07_04:HP:0000202|ICD10CM_2017:Q35-Q37|ICD10CM_2017:Q37|ICD10CM_2017:Q37.9|ICD9CM_2014:749|ICD9CM_2014:749.2|ICD9CM_2014:749.20|OMIM2016_04_17:MTHU001582|OMIM2016_04_17:MTHU015010|OMIM2016_04_17:MTHU017694|SNOMEDCT_US_2016_09_01:156939007|SNOMEDCT_US_2016_09_01:156942001|SNOMEDCT_US_2016_09_01:204610002|SNOMEDCT_US_2016_09_01:204611003|SNOMEDCT_US_2016_09_01:204622004|SNOMEDCT_US_2016_09_01:205902007|SNOMEDCT_US_2016_09_01:253983005|SNOMEDCT_US_2016_09_01:304086001|SNOMEDCT_US_2016_09_01:66948001 C2751683 Hirschsprung disease ganglioneuroblastoma Hirschsprung disease ganglioneuroblastoma | NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE | Neuroblastoma with Hirschsprung disease MSH2017_2016_08_12:C538119|OMIM2016_04_17:603851|OMIM2016_04_17:613013 C0022423 Judgement JUDGEMENT | Judgement | Judgement (observable entity) | Judgement, NOS | Judgment | Judgments | judgement | judgements | judgment | judgments CSP2006:process of discovering or asserting an objective or intrinsic relation between two objects or concepts; a faculty or power that enables a person to make judgments; the process of bringing to light and asserting the implicit meaning of a concept; a critical evaluation of a person or situation. | ICF-CY_2008:Mental functions involved in discriminating between and evaluating different options, such as those involved in forming an opinion. | ICF_2008_12_19:Mental functions involved in discriminating between and evaluating different options, such as those involved in forming an opinion. | MSH2017_2016_08_12:The process of discovering or asserting an objective or intrinsic relation between two objects or concepts; a faculty or power that enables a person to make judgments; the process of bringing to light and asserting the implicit meaning of a concept; a critical evaluation of a person or situation. | NCI2016_02D:The act of assessing a situation or event. | PSY2004:Mental act of comparing or evaluating choices within a given set of values frequently with the purpose of choosing a course of action. MSH2017_2016_08_12:D007600|SNOMEDCT_US_2016_09_01:61254005 C1855433 Mandibulofacial dysostosis, treacher collins type, autosomal recessive MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE | Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive | TCS3 | TREACHER COLLINS SYNDROME 3 MSH2017_2016_08_12:C535707|OMIM2016_04_17:248390|OMIM2016_04_17:610060 C0086181 Intravenous drug abuse DRUG ABUSE INTRAVENOUS | DRUG ABUSE, INTRAVENOUS | Drug Abuse, Intravenous | IVDA | Intravenous Drug Abuse | Intravenous drug abuse | intravenous drug abuse | ivda CSP2006:abuse, overuse, or misuse of a drug by its injection into a vein. MSH2017_2016_08_12:D015819 C3809250 Estrogen resistance ESTROGEN INSENSITIVITY | ESTROGEN RESISTANCE | ESTRR OMIM2016_04_17:133430|OMIM2016_04_17:615363 C1306065 Developmental dysplasia of the hip 1 DDH1 | DEVELOPMENTAL DYSPLASIA OF THE HIP 1 OMIM2016_04_17:142700 C0149518 Gastritis, acute Acute Gastritis | Acute gastritis | Acute gastritis (disorder) | GASTRITIS ACUTE | GASTRITIS, ACUTE | Gastritis acute | Gastritis;acute | acute gastritis | acute gastritis (diagnosis) | acute; gastritis | gastritis acute | gastritis; acute ICD10CM_2017:K29.0|ICD9CM_2014:535.0|SNOMEDCT_US_2016_09_01:155712001|SNOMEDCT_US_2016_09_01:25458004|SNOMEDCT_US_2016_09_01:266504002 C0267842 Acute acalculous cholecystitis Acute Acalculous Cholecystitis | Acute acalculous cholecystitis | Acute cholecystitis without calculus | Acute cholecystitis without calculus (disorder) SNOMEDCT_US_2016_09_01:34346002 C1861980 Prenatal cortical hyperostosis, lethal PRENATAL CORTICAL HYPEROSTOSIS, LETHAL (disorder) | Prenatal Cortical Hyperostosis, Lethal MSH2017_2016_08_12:C566184 C3840267 Epilepsy in childbirth Epilepsy in childbirth | Epilepsy in mother complicating childbirth | Epilepsy in mother complicating childbirth (disorder) SNOMEDCT_US_2016_09_01:10750951000119106 C0002896 Sideroblastic anemia ANAEMIA SIDEROBLASTIC | ANEMIA SIDEROBLASTIC | Anaemia sideroblastic | Anemia sideroblastic | Anemia, Sideroblastic | Anemia, Sideroblastic [Disease/Finding] | Anemia, primary sideroblastic | Anemia, sideroachrestic | Anemia, sideroblastic | Anemias, Sideroblastic | Hypersideremic anemia | Primary sideroblastic anaemia | Primary sideroblastic anaemia, NOS | Primary sideroblastic anemia | Primary sideroblastic anemia, NOS | Refractory sideroblastic anaemia | Refractory sideroblastic anaemia, NOS | Refractory sideroblastic anemia | Refractory sideroblastic anemia, NOS | Sideroachrestic anaemia | Sideroachrestic anaemia, NOS | Sideroachrestic anemia | Sideroachrestic anemia, NOS | Sideroblastic Anemia | Sideroblastic Anemias | Sideroblastic anaemia | Sideroblastic anaemia (disorder) | Sideroblastic anaemia NOS | Sideroblastic anaemia, NOS | Sideroblastic anemia | Sideroblastic anemia (disorder) | Sideroblastic anemia NOS | Sideroblastic anemia NOS (disorder) | Sideroblastic anemia, NOS | anemia sideroblastic | anemia; refractory, sideroblastic | anemia; sideroblastic | hypochromic microcytic sideroblastic anemia | primary sideroblastic anemia | primary sideroblastic anemia (diagnosis) | refractory sideroblastic anemia | refractory sideroblastic anemia (diagnosis) | refractory; anemia, sideroblastic | sideroachrestic anemia | sideroachrestic anemia (diagnosis) | sideroblastic anaemia | sideroblastic anemia | sideroblastic anemia (diagnosis) | sideroblastic anemias | sideroblastic; anemia CSP2006:acquired or hereditary anemia marked by sideroblasts: bone marrow cells with large mitochondrial deposits of insoluble iron due to defective heme synthesis, leading to ineffective erythropoiesis. | HPO2016_07_04:A type of sideroblastic anemia that is not responsive to treatment. [HPO:probinson] | HPO2016_07_04:Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). [HPO:probinson] | MSH2017_2016_08_12:Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow. HPO2016_07_04:HP:0001924|HPO2016_07_04:HP:0004864|ICD10CM_2017:D64.3|ICD9CM_2014:285.0|MSH2017_2016_08_12:D000756|OMIM2016_04_17:MTHU037698|OMIM2016_04_17:MTHU038362|SNOMEDCT_US_2016_09_01:154810008|SNOMEDCT_US_2016_09_01:191263002|SNOMEDCT_US_2016_09_01:41841004 C3809092 Adams-oliver syndrome 4 ADAMS-OLIVER SYNDROME 4 | AOS4 OMIM2016_04_17:614789|OMIM2016_04_17:615297 C1848029 Ehlers-danlos syndrome caused by tenascin-x deficiency EDS DUE TO TNX DEFICIENCY | EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY | Ehlers-Danlos syndrome caused by tenascin-X deficiency | Ehlers-Danlos-like syndrome due to tenascin-X deficiency | Ehlers-Danlos-like syndrome due to tenascin-x deficiency | Ehlers-Danlos-like syndrome due to tenascin-x deficiency (diagnosis) | TNX DEFICIENCY MSH2017_2016_08_12:C536193|OMIM2016_04_17:600985|OMIM2016_04_17:606408 C0023479 Acute myelomonocytic leukemia AML M4 | AMML | AMML - Acute myelomonocytic leukaemia | AMML - Acute myelomonocytic leukemia | Acte myelomonocytic leukaem | Acute M4 Myeloid Leukemia | Acute Myelomonocytic Leukemia | Acute Myelomonocytic Leukemia (FAB Type M4) | Acute Myelomonocytic Leukemias | Acute myelomonocytic leukaemia | Acute myelomonocytic leukaemia (clinical) | Acute myelomonocytic leukaemia, FAB M4 | Acute myelomonocytic leukemia | Acute myelomonocytic leukemia (clinical) | Acute myelomonocytic leukemia (morphologic abnormality) | Acute myelomonocytic leukemia NOS | Acute myelomonocytic leukemia, FAB M4 | Acute myelomonocytic leukemia, FAB M4 (disorder) | Acute myelosis | Blastic granulocytic leukemia | Disorder: Acute myelomonocytic leukemia, FAB M4 (disorder) | FAB M4 | Leukemia, Acute Myelomonocytic | Leukemia, Myeloid, Acute, M4 | Leukemia, Myeloid, Naegeli-Type | Leukemia, Myelomonocytic, Acute | Leukemia, Myelomonocytic, Acute [Disease/Finding] | Leukemia, Naegeli-Type Myeloid | Leukemias, Acute Myelomonocytic | M4 - Acute myelomonocytic leukaemia | M4 - Acute myelomonocytic leukemia | Myeloblastic leukemia | Myeloid Leukemia, Acute, M4 | Myeloid Leukemia, Naegeli Type | Myeloid Leukemia, Naegeli-Type | Myelomonocytic Leukemia, Acute | Myelomonocytic Leukemias, Acute | Naegeli-Type Myeloid Leukemia | Naegeli-type monocytic leukaemia | Naegeli-type monocytic leukemia | Naegeli-type monocytic; leukemia | [M]Acte myelomonocytic leukaem | [M]Acute myelomonocytic leukaemia | [M]Acute myelomonocytic leukemia | acute myelomonocytic leukaemia | acute myelomonocytic leukemia | acute myelomonocytic leukemia (diagnosis) | acute; myelosis | blastic; leukemia, granulocytic | granulocytic; leukemia, blastic | leukemia acute myelomonocytic | leukemia; Naegeli-type monocytic | leukemia; blastic, granulocytic | leukemia; granulocytic, blastic | leukemia; myeloblastic | leukemia; myelomonocytic, acute | m4 acute myeloid leukemia | monocytic; leukemia, Naegeli-type | myeloblastic leukemia | myeloblastic; leukemia | myelomonocytic; leukemia, acute | myelosis; acute HPO2016_07_04:A pediatric acute myeloid leukemia involving both myeloid and monocytoid precursors. At least 20% of non-erythroid cells are of monocytic origin. [HPO:probinson, MeSH:D015479] | MSH2017_2016_08_12:A pediatric acute myeloid leukemia involving both myeloid and monocytoid precursors. At least 20% of non-erythroid cells are of monocytic origin. | NCI2016_02D:An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001) HPO2016_07_04:HP:0004820|ICD10CM_2017:C92.5|ICD10CM_2017:C92.50|MSH2017_2016_08_12:D015479|SNOMEDCT_US_2016_09_01:110005000|SNOMEDCT_US_2016_09_01:277601005|SNOMEDCT_US_2016_09_01:30962008 C1855605 Arthrosis, flat face, hypotonia, short neck and macrocephaly Arthrosis, flat face, hypotonia, short neck and macrocephaly | KNIEST-LIKE DYSPLASIA, LETHAL | Kniest like dysplasia lethal | Kniest-Like Dysplasia, Lethal | Lethal Kniest-like dysplasia MSH2017_2016_08_12:C537208|OMIM2016_04_17:245190 C3150819 Retinitis pigmentosa 56 RETINITIS PIGMENTOSA 56 | RP56 OMIM2016_04_17:607056|OMIM2016_04_17:613581 C4023684 Eeg with spike-wave complexes (>3.5 hz) EEG with spike-wave complexes (>3.5 Hz) HPO2016_07_04:The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG). [HPO:probinson] HPO2016_07_04:HP:0010849 C0008354 Cholera (Cholera) or (Vibrio cholerae) | (Cholera) or (Vibrio cholerae) (disorder) | ASIATIC CHOLERA | CHOLERA | Cholera | Cholera (disorder) | Cholera - O1 group Vibrio cholerae | Cholera - Vibrio cholerae | Cholera - Vibrio cholerae (disorder) | Cholera NOS | Cholera NOS (disorder) | Cholera [Disease/Finding] | Cholera due to Vibrio cholerae | Cholera due to Vibrio cholerae (disorder) | Cholera due to vibrio cholerae | Cholera, NOS | Cholera, unspecified | Choleras | Classical cholera | EPIDEMIC CHOLERA | Unspecified cholera | VIBRIO CHOLERA INFECTION | Vibrio cholera gastroenteritis | Vibrio cholerae | Vibrio cholerae 01; cholera | Vibrio cholerae gastroenteritis | Vibrio cholerae infection | [X]Cholera, unspecified | [X]Cholera, unspecified (disorder) | asiatic cholera | cholera | cholera (diagnosis) | cholera due to Vibrio cholerae | cholera due to Vibrio cholerae (diagnosis) | cholera; classical | choleras | classical; cholera | epidemic cholera CSP2006:acute diarrheal disease endemic in India and southeast Asia whose causative agent is Vibrio cholerae; can lead to severe dehydration in a matter of hours unless quickly treated. | MEDLINEPLUS_20151021:Cholera is a bacterial infection that causes diarrhea. The cholera bacterium is usually found in water or food contaminated by feces (poop). Cholera is rare in the US. You may get it if you travel to parts of the world with inadequate water treatment and poor sanitation, and lack of sewage treatment. Outbreaks can also happen after disasters. The disease is not likely to spread directly from one person to another.
Often the infection is mild or without symptoms, but sometimes it can be severe. Severe symptoms include profuse watery diarrhea, vomiting, and leg cramps. In severe cases, rapid loss of body fluids leads to dehydration and shock. Without treatment, death can occur within hours.
Doctors diagnose cholera with a stool sample or rectal swab. Treatment includes replacing fluid and salts and sometimes antibiotics.
Anyone who thinks they may have cholera should seek medical attention immediately. Dehydration can be rapid so fluid replacement is essential.
Centers for Disease Control and Prevention
| MSH2017_2016_08_12:An acute diarrheal disease endemic in India and Southeast Asia whose causative agent is VIBRIO CHOLERAE. This condition can lead to severe dehydration in a matter of hours unless quickly treated. ICD10CM_2017:A00|ICD10CM_2017:A00.0|ICD10CM_2017:A00.9|ICD9CM_2014:001|ICD9CM_2014:001.0|ICD9CM_2014:001.9|MSH2017_2016_08_12:D002771|SNOMEDCT_US_2016_09_01:154269008|SNOMEDCT_US_2016_09_01:186087007|SNOMEDCT_US_2016_09_01:186088002|SNOMEDCT_US_2016_09_01:186089005|SNOMEDCT_US_2016_09_01:187267007|SNOMEDCT_US_2016_09_01:61972007|SNOMEDCT_US_2016_09_01:63650001 C0270398 Schizophrenia paranoid type chronic Chronic paranoid schizophrenia | Chronic paranoid schizophrenia (disorder) | Paranoid type schizophrenia, chronic | Paranoid type schizophrenia, chronic state | SCHIZOPHRENIA PARANOID TYPE CHRONIC | chronic paranoid schizophrenia | chronic paranoid schizophrenia (diagnosis) ICD9CM_2014:295.32|SNOMEDCT_US_2016_09_01:191553009|SNOMEDCT_US_2016_09_01:31658008 C0035302 Retinal artery occlusion OCCLUSION RETINAL ARTERY | Occlusion retinal artery | Occlusion, Retinal Artery | Occlusions, Retinal Artery | RAO - Retinal artery occlusion | RETINAL ARTERY OCCLUSION | Retinal Artery Occlusion | Retinal Artery Occlusion [Disease/Finding] | Retinal Artery Occlusions | Retinal artery occlusion | Retinal artery occlusion (disorder) | artery occlusion retinal | artery; occlusion, artery, retinal | artery; retina, occlusion artery | occlusion; artery, retina | occlusion; retina, artery | retina; occlusion artery | retinal artery occlusion | retinal artery occlusion (diagnosis) | retinal artery occlusion (physical finding) | retinal artery occlusions MSH2017_2016_08_12:Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye. MSH2017_2016_08_12:D015356|SNOMEDCT_US_2016_09_01:232035005 C3501891 Mitochondrial dna depletion myopathy, autosomal recessive Mitochondrial DNA Depletion Myopathy, Autosomal Recessive | Mitochondrial DNA Depletion Syndrome, Myopathic Form MSH2017_2016_08_12:C563698 C1844935 Arthrogryposis, ectodermal dysplasia, cleft lip-palate, and developmental delay ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY | Arthrogryposis, ectodermal dysplasia, cleft lip-palate, and developmental delay | Contractures ectodermal dysplasia cleft lip palate MSH2017_2016_08_12:C535465|OMIM2016_04_17:301815 C1306587 Acute encephalopathy Acute Encephalopathy | Acute encephalopathy | Acute encephalopathy, NOS | ENCEPHALOPATHY ACUTE | Encephalopathy acute NCI2016_02D:A life-threatening disorder characterized by delirium, seizures, and neuromuscular changes. HPO2016_07_04:HP:0006846|OMIM2016_04_17:MTHU004221|SNOMEDCT_US_2016_09_01:2776000|SNOMEDCT_US_2016_09_01:35610006 C3151785 Anemia, x-linked, without thrombocytopenia Anemia, X-Linked, without Thrombocytopenia MSH2017_2016_08_12:C564429 C0852937 Endobronchial lipoma Endobronchial Lipoma | Endobronchial lipoma NCI2016_02D:A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree. C1837830 Ulnar-fibular ray defect and brachydactyly ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY | Ulnar-Fibular Ray Defect and Brachydactyly MSH2017_2016_08_12:C563905|OMIM2016_04_17:608571 C0157705 Acute lymphadenitis, unspecified Acute Lymphadenitis | Acute adenitis | Acute lymphadenitis | Acute lymphadenitis (disorder) | Acute lymphadenitis, unspecified | Lymphadenitis acute | Lymphadenitis;acute | acute lymphadenitis | acute lymphadenitis (diagnosis) | acute; adenitis | acute; lymphadenitis | adenitis; acute | lymphadenitis; acute ICD10CM_2017:L04|ICD10CM_2017:L04.9|ICD9CM_2014:683|SNOMEDCT_US_2016_09_01:156318008|SNOMEDCT_US_2016_09_01:200696002|SNOMEDCT_US_2016_09_01:41174002 C2364010 Nephritis chronic Chronic nephritis | NEPHRITIS CHRONIC | Nephritis - chronic | Nephritis, chronic | chronic nephritis | chronic; nephritis | nephritis; chronic OMIM2016_04_17:MTHU037242|OMIM2016_04_17:MTHU037259|SNOMEDCT_US_2016_09_01:155852006|SNOMEDCT_US_2016_09_01:197612003|SNOMEDCT_US_2016_09_01:266614002 C0795868 Chromosome 18, tetrasomy 18p 18p Isochromosome | 18p Tetrasomy | 18p isochromosome | 18p tetrasomy | Chromosome 18, tetrasomy 18p | ISOCHROMOSOME 18p SYNDROME | Isochromosome 18p | TETRASOMY 18p | Tetrasomy 18p | Tetrasomy 18p (disorder) | Tetrasomy, Short Arm of Chromosome 18 | chromosome 18p tetrasomy syndrome | partial tetrasomy 18p | tetrasomy 18p JABL99:Partial tetrasomy affecting the short arm of chromosome 18 with multiple abnormalities which include craniofacial deformities (small head with prominent forehead, facial asymmetry, deformed ears, and pinched nose) and various genital, renal, digital, and other defects. MSH2017_2016_08_12:C538306|OMIM2016_04_17:614290|SNOMEDCT_US_2016_09_01:698849002 C0036416 Scleritis Inflammation of sclera | Inflammation of the outer white part of the eye | Inflammation of white of eye | SCLERITIS | Scleritides | Scleritis | Scleritis (disorder) | Scleritis NOS | Scleritis [Disease/Finding] | Scleritis, NOS | Scleritis, unspecified | Unspecified scleritis | Unspecified scleritis (disorder) | scleritis | scleritis (diagnosis) | scleritis (physical finding) HPO2016_07_04:Inflammation of the sclera. [HPO:probinson] | MSH2017_2016_08_12:Refers to any inflammation of the sclera including episcleritis, a benign condition affecting only the episclera, which is generally short-lived and easily treated. Classic scleritis, on the other hand, affects deeper tissue and is characterized by higher rates of visual acuity loss and even mortality, particularly in necrotizing form. Its characteristic symptom is severe and general head pain. Scleritis has also been associated with systemic collagen disease. Etiology is unknown but is thought to involve a local immune response. Treatment is difficult and includes administration of anti-inflammatory and immunosuppressive agents such as corticosteroids. Inflammation of the sclera may also be secondary to inflammation of adjacent tissues, such as the conjunctiva. | NCI2016_02D:Inflammation of the sclera. | NCI2016_NICHD_1602D:Inflammation of the sclera. HPO2016_07_04:HP:0100532|ICD10CM_2017:H15.0|ICD10CM_2017:H15.00|ICD9CM_2014:379.00|MSH2017_2016_08_12:D015423|SNOMEDCT_US_2016_09_01:155201000|SNOMEDCT_US_2016_09_01:194139000|SNOMEDCT_US_2016_09_01:194140003|SNOMEDCT_US_2016_09_01:78370002 C0796068 Oculodigitoesophagoduodenal syndrome Brunner Winter syndrome | DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUS OR DUODENUM | Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum | FEINGOLD SYNDROME | FEINGOLD SYNDROME 1 | FGLDS1 | Feingold Syndrome | Feingold syndrome | MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME | MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME | MMT SYNDROME | MMT Syndrome | MODED | Microcephaly and Digital Abnormalities with Normal Intelligence | Microcephaly, Mental Retardation, and Tracheoesophageal Fistula Syndrome | Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula (MMT) Syndrome | Microcephaly-Oculo-Digito-Esophageal-Duodenal (MODED) Syndrome | Microcephaly-mesobrachyphalangy-tracheoesophageal fistula syndrome | Microcephaly-oculo-digito-esophageal-duodenal syndrome | Microcephaly-oculo-digito-esophageal-duodenal syndrome (disorder) | Microcephaly-oculo-digito-oesophageal-duodenal syndrome | OCULODIGITOESOPHAGODUODENAL SYNDROME | ODED | ODED SYNDROME | ODED Syndrome | Oculo-Digito-Esophagoduodental (ODED) Syndrome | Oculo-digito-esophagoduodenal syndrome | Oculo-digito-oesophagoduodenal syndrome | Oculodigitoesophagoduodenal syndrome | digital anomalies-short palpebral fissures-atresia of esophagus or duodenum syndrome | microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome | microcephaly-mesobrachyphalangy-tracheoesophageal fistula syndrome | microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome | microcephaly-oculo-digito-esophageal-duodenal syndrome | oculo-digito-esophagoduodental (ODED) syndrome | oculo-digito-esophagoduodental syndrome | tracheoesophageal fistula-esophageal atresia-multiple congenital anomaly syndrome JABL99:Microcephaly, type A brachydactyly, short stature, duodenal atresia, patent ductus arteriosus, hallux valgus, restricted finger and elbow movement, and syndactyly of the toes. Learning disability occurs in about one-third of the affected infants. Dysplasia of diaphyseal ossification centers is the cause of digital anomalies. | NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the MYNC oncogene. It is characterized by microcephaly, limb abnormalities, esophageal and/or duodenal atresia. MSH2017_2016_08_12:C537734|OMIM2016_04_17:164280|OMIM2016_04_17:164840|SNOMEDCT_US_2016_09_01:702431004 C0751917 Pelizaeus-merzbacher disease, transitional Pelizaeus Merzbacher Disease, Transitional | Pelizaeus-Merzbacher Disease, Transitional | Transitional Pelizaeus Merzbacher Disease | Transitional Pelizaeus-Merzbacher Disease MSH2017_2016_08_12:D020371 C1332198 Adult clear cell sarcoma of soft parts Adult Clear Cell Sarcoma of Soft Parts NCI2016_02D:A clear cell sarcoma of soft parts occurring during adulthood. C1449843 Pseudohypoaldosteronism, type i, autosomal recessive PHA I, AUTOSOMAL RECESSIVE | PHA1B | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE | Pseudohypoaldosteronism Type 1, Autosomal Recessive | Pseudohypoaldosteronism, Type I, Autosomal Recessive MSH2017_2016_08_12:D011546|OMIM2016_04_17:264350|OMIM2016_04_17:600228|OMIM2016_04_17:600760|OMIM2016_04_17:600761 C0546212 Brachioradial summer pruritus Brachioradial summer pruritus | Brachioradial summer pruritus (disorder) | Brachioradial summer pruritus (finding) | Solar pruritus of elbows | Solar pruritus of elbows (disorder) | Solar pruritus of elbows (finding) SNOMEDCT_US_2016_09_01:109251008|SNOMEDCT_US_2016_09_01:109252001 C1511307 Breast ductal adenoma Breast Ductal Adenoma | Ductal Adenoma NCI2016_02D:A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor. C1336263 Ovarian yolk sac tumor stage iii Ovarian Yolk Sac Tumor Stage III | Stage III Ovarian Yolk Sac Tumor | Stage III Ovarian Yolk Sac Tumor AJCC v6 | Stage III Ovarian Yolk Sac Tumor AJCC v7 | Yolk Sac Tumor of Ovary Stage III | Yolk Sac Tumor of the Ovary Stage III NCI2016_02D:Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) C1274233 T-lymphocyte immunodeficiency T-Cell Immunodeficiency | T-lymphocyte immunodeficiency | T-lymphocyte immunodeficiency (diagnosis) | T-lymphocyte immunodeficiency (disorder) | immunodeficiency t-lymphocyte NCI2016_02D:A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. SNOMEDCT_US_2016_09_01:402792003 C0334551 Myxoid chondrosarcoma Myxoid Chondrosarcoma | Myxoid chondrosarcoma | Myxoid chondrosarcoma (morphologic abnormality) | [M] Myxoid chondrosarcoma | [M] Myxoid chondrosarcoma (morphologic abnormality) | myxoid chondrosarcoma NCI2016_02D:A chondrosarcoma characterized by the presence of myxoid changes. SNOMEDCT_US_2016_09_01:189881008|SNOMEDCT_US_2016_09_01:75622000 C0240733 Peroneal muscle weakness Fibularis muscle weakness | PERONEAL MUSCLE WEAKNESS | Peroneal muscle weakness | peroneal muscle weakness HPO2016_07_04:Weakness of the peroneal muscles. [HPO:probinson] HPO2016_07_04:HP:0011727|OMIM2016_04_17:MTHU041534 C4020966 Abnormal vertebral ossification Abnormal bone maturation of vertebra | Abnormal vertebral ossification | Abnormality of ossification/mineralisation of vertebrae HPO2016_07_04:An abnormality of the formation and mineralization of one or more vertebrae. [HPO:probinson] HPO2016_07_04:HP:0100569 C0039082 Syndrome Cluster, Symptom | Clusters, Symptom | Symptom Cluster | Symptom Clusters | Syndrome | Syndrome [Disease/Finding] | Syndrome, NOS | Syndromes | syndrome | syndromes CSP2006:heading term for a set of symptoms, usually three or more, which have a complex etiology and characterize a particular pathological state. | MSH2017_2016_08_12:A characteristic symptom complex. | NCI2016_02D:A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. | NCI2016_NCI-GLOSS_1602D:A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. MSH2017_2016_08_12:D013577|SNOMEDCT_US_2016_09_01:64572001 C0860439 Mottled pigmentation Mottled pigmentation | Mottled skin coloring HPO2016_07_04:Patchy and irregular skin pigmentation. [HPO:probinson] HPO2016_07_04:HP:0001070|OMIM2016_04_17:MTHU002044 C0009442 Common bile duct neoplasms Common Bile Duct Neoplasms | Common Bile Duct Neoplasms [Disease/Finding] | Main bile duct tumor | Neoplasm of common bile duct | Neoplasm of common bile duct (disorder) | neoplasm of common bile duct | neoplasm of common bile duct (diagnosis) MSH2017_2016_08_12:Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI. MSH2017_2016_08_12:D003138|SNOMEDCT_US_2016_09_01:126857009 C4225422 Diamond-blackfan anemia 14 with mandibulofacial dysostosis DBA14 | DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS OMIM2016_04_17:300946 C1859117 Recurrent pulmonary infections Pulmonary infections, recurrent | Recurrent pulmonary infection | Recurrent pulmonary infections | pulmonary infections, recurrent HPO2016_07_04:HP:0006532|OMIM2016_04_17:MTHU013850|OMIM2016_04_17:MTHU030442 C1837760 Prominent eyes Prominent eyes HPO2016_07_04:HP:0000520|OMIM2016_04_17:MTHU002029 C0013374 Dysgammaglobulinemia Dysgammaglobulinaemia | Dysgammaglobulinemia | Dysgammaglobulinemia (disorder) | Dysgammaglobulinemia (finding) | Dysgammaglobulinemia [Disease/Finding] | Dysgammaglobulinemias HPO2016_07_04:Selective deficiency of one or more, but not all, classes of immunoglobulins. [HPO:probinson] | MSH2017_2016_08_12:An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins. HPO2016_07_04:HP:0002961|MSH2017_2016_08_12:D004406|OMIM2016_04_17:MTHU007448|SNOMEDCT_US_2016_09_01:123782009|SNOMEDCT_US_2016_09_01:127389001 C0031024 Suppurative periapical periodontitis Abscess, Apical Alveolar | Abscess, Apical Dentoalveolar | Abscess, Periapical | Abscesses, Apical Alveolar | Abscesses, Apical Dentoalveolar | Abscesses, Periapical | Alveolar Abscess, Apical | Alveolar Abscesses, Apical | Apical Alveolar Abscess | Apical Alveolar Abscesses | Apical Dentoalveolar Abscess | Apical Dentoalveolar Abscesses | Apical abscess | DENTO ALVEOLAR ABSCESS | Dentoalveolar Abscess | Dentoalveolar Abscess, Apical | Dentoalveolar Abscesses, Apical | Dentoalveolar abscess | Periapical Abscess | Periapical Abscess [Disease/Finding] | Periapical Abscesses | Periapical Dental Abscess | Periapical Periodontitides, Suppurative | Periapical Periodontitis, Suppurative | Periapical abscess | Periapical abscess (disorder) | Periapical abscesses | Periapical dental abscess | Periodontitides, Suppurative Periapical | Periodontitis, Apical, Suppurative | Periodontitis, Suppurative Periapical | Suppurative Periapical Periodontitides | Suppurative Periapical Periodontitis | Suppurative apical periodontitis | Tooth root periapical abscess | abscess dentoalveolar | abscess; apical | abscess; dentoalveolar | alveolar abscess | dentoalveolar abscess | dentoalveolar abscess (diagnosis) | dentoalveolar; abscess | periapical abscess | periapical abscess (diagnosis) | periapical alveolar abscess | periapical alveolar abscess (diagnosis) | periapical; abscess MSH2017_2016_08_12:Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed) | NCI2016_02D:Localized collection of pus in the tissues that enclose the root of a tooth. MSH2017_2016_08_12:D010482|OMIM2016_04_17:MTHU015224|SNOMEDCT_US_2016_09_01:109603007|SNOMEDCT_US_2016_09_01:196341005|SNOMEDCT_US_2016_09_01:34597006 C3854388 Hyperferritinaemia Hyperferritinaemia | Hyperferritinemia HPO2016_07_04:HP:0003281 C0153628 Malignant neoplasm of conjunctiva Malignant Conjunctiva Neoplasm | Malignant Conjunctiva Tumor | Malignant Conjunctival Neoplasm | Malignant Conjunctival Tumor | Malignant Neoplasm of Conjunctiva | Malignant Neoplasm of the Conjunctiva | Malignant Tumor of Conjunctiva | Malignant Tumor of the Conjunctiva | Malignant neoplasm of conjunctiva | Malignant tumor of conjunctiva | Malignant tumor of conjunctiva (disorder) | Malignant tumour of conjunctiva | malignant neoplasm of conjunctiva | malignant neoplasm of conjunctiva (diagnosis) | malignant tumor of conjunctiva NCI2016_02D:A malignant growth of cells within the conjunctiva of the eye. ICD10CM_2017:C69.0|ICD9CM_2014:190.3|SNOMEDCT_US_2016_09_01:363463000|SNOMEDCT_US_2016_09_01:93764002 C0234523 Apraxia, ideomotor Apraxia, Classic | Apraxia, Ideokinetic | Apraxia, Ideomotor | Apraxia, Ideomotor [Disease/Finding] | Apraxia, Limb Kinetic | Apraxia, Transcortical | Apraxias, Classic | Apraxias, Ideokinetic | Apraxias, Ideomotor | Apraxias, Limb Kinetic | Apraxias, Transcortical | Classic Apraxia | Classic Apraxias | Classic apraxia | Classic apraxia (finding) | Classic apraxia (finding) [Ambiguous] | Dyspraxia, Ideomotor | Dyspraxias, Ideomotor | Ideokinetic Apraxia | Ideokinetic Apraxias | Ideokinetic apraxia | Ideomotor Apraxia | Ideomotor Apraxias | Ideomotor Dyspraxia | Ideomotor Dyspraxias | Ideomotor apraxia | Ideomotor dyspraxia | Ideomotor dyspraxia (disorder) | Kinetic Apraxia, Limb | Kinetic Apraxias, Limb | Limb Kinetic Apraxia | Limb Kinetic Apraxias | Limb-kinetic apraxia | Limb-kinetic apraxia (finding) | Transcortical Apraxia | Transcortical Apraxias | Transcortical apraxia | Transcortical apraxia (finding) MSH2017_2016_08_12:A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57) MSH2017_2016_08_12:D020240|SNOMEDCT_US_2016_09_01:229706001|SNOMEDCT_US_2016_09_01:333633007|SNOMEDCT_US_2016_09_01:334621009|SNOMEDCT_US_2016_09_01:39746003 C3888002 Pulmonary hypertension, primary, 2 PPH2 | PULMONARY HYPERTENSION, PRIMARY, 2 OMIM2016_04_17:603295|OMIM2016_04_17:615342 C1833339 Anophthalmia plus syndrome ANOPHTHALMIA-PLUS SYNDROME | Anophthalmia plus syndrome | Anophthalmia-Plus Syndrome | FRYNS MICROPHTHALMIA SYNDROME | Fryns Microphthalmia Syndrome | Fryns anophthalmia syndrome | MICROPHTHALMIA WITH FACIAL CLEFTING | Microphthalmia with Facial Clefting MSH2017_2016_08_12:C537767|OMIM2016_04_17:600776 C0268000 Fluid retention Body fluid retention | Body fluid retention (disorder) | FLUID RETENTION | Fluid retention | Fluid retention (disorder) | Fluid retention NOS | Retention of fluid | Retention;fluid | Retentions of Fluids | body fluid retention | fluid retention | fluid; retention | fluids retention | retention of fluid | retention; fluid ICD10CM_2017:R60.9|SNOMEDCT_US_2016_09_01:154760006|SNOMEDCT_US_2016_09_01:190898000|SNOMEDCT_US_2016_09_01:43498006 C0206139 Lichen planus, oral Lichen Planus, Oral | Lichen Planus, Oral [Disease/Finding] | OLP - Oral lichen planus | Oral Lichen Planus | Oral lichen planus | Oral lichen planus (disorder) | lichen oral planus | lichen planus oral | oral lichen planus MSH2017_2016_08_12:Oral lesions accompanying cutaneous lichen planus or often occurring alone. The buccal mucosa, lips, gingivae, floor of the mouth, and palate are usually affected (in a descending order of frequency). Typically, oral lesions consist of radiating white or gray, velvety, threadlike lines, arranged in a reticular pattern, at the intersection of which there may be minute, white, elevated dots or streaks (Wickham's striae). (Jablonski, Illustrated Dictionary of Dentistry) | NCI2016_02D:A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral. MSH2017_2016_08_12:D017676|SNOMEDCT_US_2016_09_01:235049008 C1306214 Acth-secreting pituitary adenoma ACTH Producing Pituitary Adenoma | ACTH Producing Pituitary Gland Adenoma | ACTH Secreting Adenoma of Pituitary | ACTH Secreting Adenoma of the Pituitary | ACTH Secreting Pituitary Adenoma | ACTH producing ('basophilic') adenoma (Cushing's disease) | ACTH secreting adenoma | ACTH-Producing Pituitary Adenoma | ACTH-Producing Pituitary Adenomas | ACTH-Producing Pituitary Gland Adenoma | ACTH-Secreting Adenoma of Pituitary | ACTH-Secreting Adenoma of Pituitary Gland | ACTH-Secreting Adenoma of the Pituitary | ACTH-Secreting Adenoma of the Pituitary Gland | ACTH-Secreting Pituitary Adenoma | ACTH-Secreting Pituitary Adenoma [Disease/Finding] | ACTH-Secreting Pituitary Adenomas | ACTH-producing pituitary adenoma | ACTH-secreting pituitary adenoma | ACTH-secreting pituitary adenoma (diagnosis) | ACTHoma | Adenoma, Corticotroph | Adenomas, Corticotroph | Adrenocorticotropin Producing Adenoma of Pituitary | Adrenocorticotropin Producing Adenoma of Pituitary Gland | Adrenocorticotropin Producing Adenoma of the Pituitary | Adrenocorticotropin Producing Adenoma of the Pituitary Gland | Adrenocorticotropin Producing Pituitary Adenoma | Adrenocorticotropin Producing Pituitary Gland Adenoma | Adrenocorticotropin Secreting Adenoma of Pituitary | Adrenocorticotropin Secreting Adenoma of Pituitary Gland | Adrenocorticotropin Secreting Adenoma of the Pituitary | Adrenocorticotropin Secreting Adenoma of the Pituitary Gland | Adrenocorticotropin Secreting Pituitary Adenoma | Adrenocorticotropin Secreting Pituitary Gland Adenoma | BRAIN TUMOR, ACTH SECRETING PITUITARY ADENOMA | Corticotroph Adenoma | Corticotroph Adenomas | Corticotroph adenoma | Corticotroph adenoma (disorder) | Corticotropin Secreting Adenoma of the Pituitary | Corticotropin Secreting Pituitary Gland Adenoma | Corticotropin-Secreting Adenoma, Pituitary | Corticotropin-Secreting Adenomas, Pituitary | Corticotropin-secreting pituitary adenoma | Corticotropinoma | INTRACRANIAL NEOPLASM, ACTH SECRETING PITUITARY ADENOMA | PITUITARY ADENOMA, ACTH SECRETING | PITUITARY ADENOMA, ACTH-SECRETING | Pituitary ACTH Secreting Adenoma | Pituitary ACTH-Secreting Adenoma | Pituitary Adenoma, ACTH Secreting | Pituitary Adenoma, ACTH-Producing | Pituitary Adenoma, ACTH-Secreting | Pituitary Adenomas, ACTH-Producing | Pituitary Adenomas, ACTH-Secreting | Pituitary Corticotropin Secreting Adenoma | Pituitary Corticotropin-Secreting Adenoma | Pituitary Corticotropin-Secreting Adenomas | Pituitary Gland ACTH-Secreting Adenoma | Pituitary corticotropic cell adenoma | adenoma, ACTH secreting HPO2016_07_04:A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH). [DDD:spark, HPO:probinson] | MSH2017_2016_08_12:A pituitary adenoma which secretes ADRENOCORTICOTROPIN, leading to CUSHING DISEASE. | NCI2016_02D:An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion. HPO2016_07_04:HP:0008291|MSH2017_2016_08_12:D049913|OMIM2016_04_17:219090|OMIM2016_04_17:605555|SNOMEDCT_US_2016_09_01:21109002|SNOMEDCT_US_2016_09_01:254958004 C0233403 Physically well but worried Physically well but worried | Physically well, but worried | Psyche disturbed with normal general body function | Psyche disturbed, general body function normal | Worried well | Worried well (finding) SNOMEDCT_US_2016_09_01:389383001|SNOMEDCT_US_2016_09_01:390114002|SNOMEDCT_US_2016_09_01:390939005|SNOMEDCT_US_2016_09_01:81302005 C1266015 Delta cell carcinoma Delta Cell Carcinoma | Malignant Somatostatinoma | Somatostatin cell tumor, malignant | Somatostatin cell tumour, malignant | Somatostatinoma, malignant | Somatostatinoma, malignant (morphologic abnormality) | malignant somatostatinoma | malignant somatostatinoma (diagnosis) NCI2016_02D:A malignant neuroendocrine tumor arising from delta cells which produce somatostatin. It displays vascular invasion and metastasizes to other anatomic sites. SNOMEDCT_US_2016_09_01:128643000 C4020885 Difficulties with night vision Difficulties with night vision HPO2016_07_04:HP:0000662 C0014054 Biundulant milk fever Biundulant meningoencephalitis | Biundulant milk fever | CEE - Central European encephalitis | Central European Encephalitis | Central European encephalitis | Central European encephalitis (disorder) | Central European tick-borne encephalitis | Central European viral encephalitis | Central European; encephalitis | Central european encephalitis | Czechoslovakian; encephalitis | Diphasic meningoencephalitis | Diphasic milk fever | Encephalitis due to European subtype of tick-borne encephalitis virus | Encephalitis, Central European | TBE - Central European tick-borne encephalitis | Western European tick-borne encephalitis | encephalitis due to European tick-borne encephalitis virus | encephalitis due to European tick-borne encephalitis virus (diagnosis) | encephalitis; Central European | encephalitis; Czechoslovakian ICD10CM_2017:A84.1|ICD9CM_2014:063.2|MSH2017_2016_08_12:D004675|SNOMEDCT_US_2016_09_01:16901001 C3280943 Atrial septal defect 9 ASD9 | ATRIAL SEPTAL DEFECT 9 | atrial septal defect - ASD9 | atrial septal defect - ASD9 (diagnosis) OMIM2016_04_17:601656|OMIM2016_04_17:614475 C1332899 Cerebellar glioblastoma Cerebellar Glioblastoma | Cerebellar Glioblastoma Multiforme | Glioblastoma of Cerebellum | Glioblastoma of the Cerebellum | Grade IV Astrocytic Neoplasm of Cerebellum | Grade IV Astrocytic Neoplasm of the Cerebellum | Grade IV Astrocytic Tumor of Cerebellum | Grade IV Astrocytic Tumor of the Cerebellum | Grade IV Cerebellar Astrocytic Neoplasm | Grade IV Cerebellar Astrocytic Tumor C0743912 Increased ferritin Elevated ferritin | FERRITIN ELEVATED | Ferritin high | Ferritin increased | Increased ferritin | elevated ferritin | ferritin elevated | ferritin high | high ferritin HPO2016_07_04:HP:0003281|OMIM2016_04_17:MTHU012767|OMIM2016_04_17:MTHU023485 C0431112 Anaplastic ganglioglioma Anaplastic Ganglioglioma | Anaplastic ganglioglioma | Anaplastic ganglioglioma (morphologic abnormality) | Ganglioglioma, anaplastic | Ganglioglioma, anaplastic (morphologic abnormality) | anaplastic ganglioglioma | anaplastic ganglioglioma (diagnosis) NCI2016_02D:A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO) SNOMEDCT_US_2016_09_01:128912009|SNOMEDCT_US_2016_09_01:134212004 C0275753 Vitiligo of carate Vitiligo of carate | Vitiligo of pinta | Vitiligo of pinta (disorder) | pinta; vitiligo | vitiligo; pinta SNOMEDCT_US_2016_09_01:56347002 C0264657 Renal sclerosis with hypertension Hypertensive nephrosclerosis | Hypertensive nephrosclerosis (disorder) | NEPHROSCLEROSIS HYPERTENSIVE | Renal sclerosis with hypertension | Renal sclerosis with hypertension (disorder) | hypertension; renal sclerosis | hypertensive nephrosclerosis | hypertensive renal sclerosis | hypertensive renal sclerosis (diagnosis) | nephrosclerosis hypertensive | renal sclerosis; hypertension SNOMEDCT_US_2016_09_01:14973001|SNOMEDCT_US_2016_09_01:473392002 C4054707 Intermediate osteoclastic giant cell-rich tumor of bone Intermediate Osteoclastic Giant Cell-Rich Tumor of Bone | Intermediate Osteoclastic Giant Cell-Rich Tumor of the Bone NCI2016_02D:A benign but locally aggressive giant cell tumor that arises from the bone. C1708717 Localized resectable adult hepatocellular carcinoma Localized Resectable Adult Hepatocellular Carcinoma NCI2016_02D:A localized hepatocellular carcinoma that occurs during adulthood and it is amenable to surgical resection. C0035460 Rhinitis, vasomotor RHINITIS VASOMOTOR | Rhinitides, Vasomotor | Rhinitis, Vasomotor | Rhinitis, Vasomotor [Disease/Finding] | Rhinitis;vasomotor | VASOMOTOR RHINITIS | VMR - Vasomotor rhinitis | Vasomotor Rhinitides | Vasomotor Rhinitis | Vasomotor rhinitis | Vasomotor rhinitis (disorder) | Vasomotor rhinitis, NOS | rhinitis; vasomotor | vasomotor rhinitis | vasomotor rhinitis (diagnosis) | vasomotor; rhinitis MSH2017_2016_08_12:A form of non-allergic rhinitis that is characterized by nasal congestion and posterior pharyngeal drainage. | NCI2016_02D:Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose. ICD10CM_2017:J30.0|MSH2017_2016_08_12:D012223|SNOMEDCT_US_2016_09_01:155537009|SNOMEDCT_US_2016_09_01:266386004|SNOMEDCT_US_2016_09_01:8229003 C0005426 Biliary tract neoplasm BILIARY NEOPLASIA | Biliary Tract Neoplasm | Biliary Tract Neoplasms | Biliary Tract Neoplasms [Disease/Finding] | Biliary neoplasia | Biliary neoplasm | Biliary neoplasm NOS | Biliary tract neoplasm | Biliary tumor | NEOPLASM BILIARY TRACT | Neoplasm biliary tract | Neoplasm of biliary tract | Neoplasm of biliary tract (diagnosis) | Neoplasm of biliary tract (disorder) | Neoplasm, Biliary Tract | Neoplasms, Biliary Tract | Tumor of biliary tract | Tumour of biliary tract | biliary neoplasm | biliary tract neoplasm | biliary tract neoplasms | biliary tumor | extrahepatic bile duct neoplasm - biliary tract | obsolete Biliary tract neoplasm CSP2006:new abnormal biliary tract tissue that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease; includes neoplasms of the bile ducts and the gallbladder. | HPO2016_07_04:A tumor (abnormal growth of tissue) of the biliary system. [HPO:probinson] | HPO2016_07_04:Tumor or cancer originating in the biliary tract. [] | MSH2017_2016_08_12:Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER. HPO2016_07_04:HP:0030152|HPO2016_07_04:HP:0100574|MSH2017_2016_08_12:D001661|SNOMEDCT_US_2016_09_01:126853008 C0263579 Pigmented hairy epidermal nevus of becker Becker Nevus | Becker's Nevus | Becker's naevus | Becker's naevus (disorder) | Becker's nevus | Becker; pigmented hairy nevus | HYPERPIGMENTATION, PROGRESSIVE CRIBRIFORM AND ZOSTERIFORM | Linear Papular Ectodermal-Mesodermal Hamartoma | Linear papular ectodermal-mesodermal hamartoma | Melanosis Neviformis | PCZH | Pigmented Hairy Epidermal Nevus | Pigmented Hairy Nevus of Becker | Pigmented hairy epidermal naevus | Pigmented hairy epidermal nevus | Pigmented hairy epidermal nevus (disorder) | Pigmented hairy epidermal nevus of Becker | Pigmented hairy naevus of Becker | Pigmented hairy nevus of Becker | Progressive Cribriform and Zosteriform Hyperpigmentation | Progressive cribriform and zosteriform hyperpigmentation | pigmented hairy nevus; Becker NCI2016_02D:A benign lesion that is sometimes congenital and consists of an overgrowth of the epidermis and the presence of melanin-containing cells. It is found mostly in males and typically develops during childhood or adolescence, becoming darker and more hairy after puberty. OMIM2016_04_17:614323|SNOMEDCT_US_2016_09_01:201104004|SNOMEDCT_US_2016_09_01:5387003 C2673198 Familial cold autoinflammatory syndrome 2 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 | FCAS2 | Familial Cold Autoinflammatory Syndrome 2 MSH2017_2016_08_12:C567090|OMIM2016_04_17:609648|OMIM2016_04_17:611762 C1835912 Aicardi-goutieres syndrome 4 AGS4 | AICARDI-GOUTIERES SYNDROME 4 | Aicardi-Goutieres Syndrome 4 MSH2017_2016_08_12:C563681|OMIM2016_04_17:606034|OMIM2016_04_17:610333 C3150618 Maturity-onset diabetes of the young, type 11 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 | MODY11 | Maturity-onset diabetes of the young, type 11 | Maturity-onset diabetes of the young, type 11 (disorder) | maturity-onset diabetes of the young - type 11 | maturity-onset diabetes of the young - type 11 (diagnosis) OMIM2016_04_17:191305|OMIM2016_04_17:613375|SNOMEDCT_US_2016_09_01:609578001 C0432283 Osteoglophonic dwarfism Fairbank-Keats syndrome | OGD | OSTEOGLOPHONIC DWARFISM | OSTEOGLOPHONIC DYSPLASIA | Osteoglophonic dwarfism | Osteoglophonic dysplasia | Osteoglophonic dysplasia (disorder) | osteoglophonic dwarfism | osteoglophonic dysplasia JABL99:A rare form of bone dysplasia characterized by distinctive bone lesions, disproportionate dwarfism, and severe craniofacial defect. The affected infants show failure to thrive, craniosynostosis, respiratory problems, rhizomelic dwarfism, multiple metaphyseal defects, anterior beaking of the vertebrae, and other abnormalities. Early psychomotor retardation and feeding difficulty are followed by normal intelligence and nutrition. The term "osteoglophonic" is derived from Greek meaning 'hollowed out' denoting the radiographic appearance of the metaphyses. MSH2017_2016_08_12:C536050|OMIM2016_04_17:136350|OMIM2016_04_17:166250|SNOMEDCT_US_2016_09_01:254144002 C0268187 Alpha, alpha-trehalase deficiency Alpha, alpha-trehalase deficiency | Deficiency of alpha, alpha-trehalase | Deficiency of alpha, alpha-trehalase (disorder) | TREHALASE DEFICIENCY | TREHALOSE INTOLERANCE | Trehalase Deficiency | Trehalase deficiency | Trehalose Intolerance | Trehalose intolerance | alpha, alpha-Trehalase deficiency | alpha, alpha-Trehalase deficiency (disorder) MSH2017_2016_08_12:C562603|OMIM2016_04_17:612119|SNOMEDCT_US_2016_09_01:124468000|SNOMEDCT_US_2016_09_01:84193000 C0154208 Disorder of endocrine ovary DISORDERS OF THE ENDOCRINE OVARIES | DYSFUNCTION OVARIAN | Disorder of endocrine ovary | Disorder of endocrine ovary (disorder) | Disorder of endocrine ovary, NOS | Dysfunction ovarian | Dysfunction;ovarian | Ovarian Dysfunction | Ovarian dysfunction | Ovarian dysfunction NOS | Ovarian dysfunction NOS (disorder) | Ovarian dysfunction, NOS | Ovarian dysfunction, unspecified | Unspecified ovarian dysfunction | dysfunction; ovary | ovarian dysfunction | ovary; functional disturbance ICD10CM_2017:E28|ICD10CM_2017:E28.9|ICD9CM_2014:256|ICD9CM_2014:256.9|SNOMEDCT_US_2016_09_01:154710000|SNOMEDCT_US_2016_09_01:190551003|SNOMEDCT_US_2016_09_01:267485006|SNOMEDCT_US_2016_09_01:37102008 C2678473 Ciliary dyskinesia, primary, 7 (disorder) CILD7 | CILIARY DYSKINESIA, PRIMARY, 7 | CILIARY DYSKINESIA, PRIMARY, 7 (disorder) | CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS | Cild7 | Ciliary Dyskinesia, Primary, 7 | Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus MSH2017_2016_08_12:C567504|OMIM2016_04_17:603339|OMIM2016_04_17:611884 C1866629 Mycobacterium tuberculosis, susceptibility to, x-linked (finding) MTBSX | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED (finding) OMIM2016_04_17:300259 C1846033 Goiter, multinodular 2 GOITER, MULTINODULAR 2 | Goiter, Multinodular 2 | MNG2 MSH2017_2016_08_12:C564546|OMIM2016_04_17:300273 C4021343 Broad hallux phalanx Broad bone of big toe | Broad hallux phalanx | Broad phalanges of the hallux | Wide bone of big toe HPO2016_07_04:An increase in width in one or more phalanges of the big toe. [HPO:probinson] HPO2016_07_04:HP:0010059 C1848201 Subcortical band heterotopia DC SYNDROME | DOUBLE CORTEX SYNDROME | Double Cortex Syndrome | Double cortex syndrome | Heterotopia, Subcortical Band | Heterotopia, Subcortical Laminar | Heterotopias, Subcortical Band | Heterotopias, Subcortical Laminar | SBH | SCLH | SUBCORTICAL BAND HETEROTOPIA | SUBCORTICAL LAMINAR HETEROTOPIA | Subcortical Band Heterotopia | Subcortical Band Heterotopias | Subcortical Laminar Heterotopia | Subcortical band heterotopia | Subcortical laminar heterotopia | Syndrome, Double Cortex NCI2016_02D:A developmental brain abnormality characterized by atypical migration of neurons during cortical development. | NCI2016_NICHD_1602D:A developmental brain abnormality characterized by abnormal migration of neurons during cortical development. MSH2017_2016_08_12:D054221|OMIM2016_04_17:300067|OMIM2016_04_17:601545|OMIM2016_04_17:607432|OMIM2016_04_17:MTHU021696|OMIM2016_04_17:MTHU025316 C4021837 Atypical nevi in non-sun exposed areas Atypical nevi in non-sun exposed areas HPO2016_07_04:HP:0001074 C0013604 Edema Dropsy | Dropsy, NOS | EDEMA | EDEMA (NOS) | EDEMA NOS | EDEMAS | EDEMATOUS | Edema | Edema (NOS) | Edema (finding) | Edema (morphologic abnormality) | Edema (observable entity) | Edema - lesion | Edema - symptom | Edema NOS | Edema NOS (finding) | Edema [Disease/Finding] | Edema, NOS | Edema, unspecified | Edemas | Edematous | Hydrops | Hydrops (morphologic abnormality) | Hydrops, NOS | Interstitial edema | Interstitial oedema | OEDEMA | OEDEMA NOS | Oedema | Oedema - lesion | Oedema - symptom | Oedema NOS | Oedema NOS (finding) | Oedema, NOS | Oedema, unspecified | Oedematous | SWELLING | Waterlogged | [D]Dropsy | [D]Dropsy (context-dependent category) | [D]Dropsy (situation) | [D]Edema | [D]Edema (context-dependent category) | [D]Edema (situation) | [D]Edema NOS | [D]Edema NOS (context-dependent category) | [D]Edema NOS (situation) | [D]Oedema | [D]Oedema (situation) | [D]Oedema NOS | [D]Oedema NOS (situation) | dropsies | dropsy | edema | edema (diagnosis) | edema (physical finding) | edema interstitial | edemas | edematous | excess fluid | hydrops | interstitial edema | interstitial oedema | oedema | oedemas | oedematous | swelling due to excess fluid | watery swelling CSP2006:swelling from excessive accumulation of serous fluid in tissue. | HPO2016_07_04:An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. [HPO:probinson] | MEDLINEPLUS_20151021:Edema means swelling caused by fluid in your body's tissues. It usually occurs in the feet, ankles and legs, but it can involve your entire body.
Causes of edema include
To keep swelling down, your health care provider may recommend keeping your legs raised when sitting, wearing support stockings, limiting how much salt you eat, or taking a medicine called a diuretic - also called a water pill.
| MSH2017_2016_08_12:Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE. | NCI2016_02D:Accumulation of an excessive amount of fluid in cells or intercellular tissues. | NCI2016_CDISC_1602D:Excessive amount of watery fluid in tissues or cavities, generally characterized microscopically as clear spaces separating tissue components. | NCI2016_NCI-GLOSS_1602D:Swelling caused by excess fluid in body tissues. | NCI2016_NICHD_1602D:Accumulation of an excessive amount of fluid in cells or intercellular tissues. | UWDA173:Pathological transudate within one or more tissues. HPO2016_07_04:HP:0000969|ICD10CM_2017:R60.9|ICD9CM_2014:782.3|MSH2017_2016_08_12:D004487|OMIM2016_04_17:MTHU000002|OMIM2016_04_17:MTHU007987|SNOMEDCT_US_2016_09_01:139241006|SNOMEDCT_US_2016_09_01:139250008|SNOMEDCT_US_2016_09_01:155375008|SNOMEDCT_US_2016_09_01:158241008|SNOMEDCT_US_2016_09_01:158244000|SNOMEDCT_US_2016_09_01:158247007|SNOMEDCT_US_2016_09_01:161979002|SNOMEDCT_US_2016_09_01:161988006|SNOMEDCT_US_2016_09_01:206888002|SNOMEDCT_US_2016_09_01:206891002|SNOMEDCT_US_2016_09_01:206894005|SNOMEDCT_US_2016_09_01:20741006|SNOMEDCT_US_2016_09_01:266308000|SNOMEDCT_US_2016_09_01:267038008|SNOMEDCT_US_2016_09_01:423666004|SNOMEDCT_US_2016_09_01:79654002 C1318533 Secondary polycythemia Acquired polycythaemia | Acquired polycythaemia, NOS | Acquired polycythemia | Acquired polycythemia, NOS | POLYCYTHEMIA, SECONDARY | Polycythaemia, secondary | Polycythaemia;secondary | Polycythemia, acquired | Polycythemia, secondary | SECONDARY POLYCYTHEMIA | SECONDARY POLYCYTHEMIAS | Secondary Polycythemia | Secondary erythrocytosis | Secondary erythrocytosis, NOS | Secondary polycythaemia | Secondary polycythaemia (disorder) | Secondary polycythaemia NOS | Secondary polycythaemia, NOS | Secondary polycythemia | Secondary polycythemia (disorder) | Secondary polycythemia NOS | Secondary polycythemia NOS (disorder) | Secondary polycythemia, NOS | acquired polycythemia | acquired polycythemia (diagnosis) | acquired; polycythemia | erythremia; secondary | polycythemia secondary | polycythemia; acquired | polycythemia; secondary | secondary erythrocytosis | secondary polycythaemia | secondary polycythemia | secondary polycythemia (diagnosis) | secondary polycythemia acquired | secondary; erythremia | secondary; polycythemia ICD10CM_2017:D75.1|ICD9CM_2014:289.0|SNOMEDCT_US_2016_09_01:154835002|SNOMEDCT_US_2016_09_01:191374009|SNOMEDCT_US_2016_09_01:44865000 C3280777 Ventricular septal defect 1 VENTRICULAR SEPTAL DEFECT 1 | VSD1 | ventricular septal defect - VSD1 | ventricular septal defect - VSD1 (diagnosis) OMIM2016_04_17:600576|OMIM2016_04_17:614429 C1332995 Childhood pilocytic astrocytoma Childhood Pilocytic Astrocytoma | Pediatric Pilocytic Astrocytoma | Pilocytic Astrocytoma of Childhood NCI2016_02D:A pilocytic astrocytoma that occurs during childhood. C1336379 Stage ivb carcinoma of nasopharynx Stage IVB Carcinoma of Nasopharynx | Stage IVB Carcinoma of the Nasopharynx | Stage IVB Nasopharyngeal Carcinoma | Stage IVB Nasopharyngeal Carcinoma AJCC v7 | Stage IVB Nasopharynx Carcinoma NCI2016_02D:Stage IVB includes: Any T, N3, M0. N3: Nasopharyngeal cancer with metastasis in a lymph node (s) more than 6 cm in greatest dimension and/or to supraclavicular fossa. Supraclavicular zone or fossa is relevant to the staging of nasopharyngeal carcinoma and is the triangular region originally described by Ho. It is defined by three points: (1) the superior margin of the sternal end of the clavicle, (2) the superior margin of the lateral end of the clavicle, (3) the point where the neck meets the shoulder. This would include caudal portions of levels IV and VB. All cases with lymph nodes (whole or part) in the fossa are considered N3b. M0: No distant metastasis. (AJCC 7th ed.) C0155675 Pulmonary arteriovenous fistulas Arteriovenous Fistula of Pulmonary Vessels | Arteriovenous fistula of pulmonary vessels | Arteriovenous fistula of pulmonary vessels (disorder) | FISTULA, ARTERIOVENOUS, PULMONARY | PULMONARY ARTERIOVENOUS FISTULAS | Pulmonary A-V fistula | Pulmonary AV Fistula | Pulmonary Arteriovenous Fistula | Pulmonary Arteriovenous Fistulas | Pulmonary Arteriovenous Malformation | Pulmonary arterio-venous fistula | Pulmonary arteriovenous fistula | Pulmonary arteriovenous fistulas | arteriovenous fistulas pulmonary | fistula; arteriovenous, pulmonary vessels | fistula; pulmonary, arteriovenous | pulmonary arteriovenous fistula | pulmonary arteriovenous fistula (diagnosis) | shunt; arteriovenous, pulmonary NCI2016_02D:A congenital or acquired malformation characterized by abnormal communication between the pulmonary arteries and pulmonary veins in the lungs. HPO2016_07_04:HP:0004952|ICD10CM_2017:I28.0|ICD9CM_2014:417.0|MSH2017_2016_08_12:C562404|OMIM2016_04_17:265140|OMIM2016_04_17:MTHU049104|SNOMEDCT_US_2016_09_01:111289009|SNOMEDCT_US_2016_09_01:204446000 C3806443 Puffy cheeks Puffy cheeks HPO2016_07_04:HP:0000293|OMIM2016_04_17:MTHU042054 C1853925 Spondyloocular syndrome, autosomal recessive Spondyloocular Syndrome, Autosomal Recessive MSH2017_2016_08_12:C565285 C1262477 Weight decreased Decreased body weight | Decreased weight | Decreased;weight | Losing weight | Losing wt | Loss (of);weight | Loss of weight | Loss, Weight | Losses, Weight | Lost weight | Progressive weight loss | Reduction, Weight | Reductions, Weight | WEIGHT DECREASE | WEIGHT LOSS | WEIGHTLOSS | Weight Decrease | Weight Loss | Weight Loss [Disease/Finding] | Weight Losses | Weight Reduction | Weight Reductions | Weight decrease | Weight decreased | Weight decreased (finding) | Weight decreased (observable entity) | Weight decreasing | Weight decreasing (finding) | Weight loss | Weight loss (finding) | Weight loss finding | Weight loss finding (finding) | Weight loss, progressive | Wt loss | decrease weight | decreased weight | decreases weight | lose weight | loses weight | losing weight | loss of weight | loss weight | loss wt | loss; weight | lost weight | reduction weight | weight decrease | weight loss | weight loss (on exam) | weight loss on exam | weight loss on exam (physical finding) | weight reduction | weight; loss | weightloss | wt loss CSP2006:the reduction of overall body mass; may be due to disease, diet, or drugs; can be permanent or temporary, and may involve any tissue. | HPO2016_07_04:Reduction inexisting body weight. [HPO:probinson] | MSH2017_2016_08_12:Decrease in existing BODY WEIGHT. | NCI2016_02D:A reduction in total body weight. | NCI2016_CTCAE_1602D:A finding characterized by a decrease in overall body weight; for pediatrics, less than the baseline growth curve. | NCI2016_NICHD_1602D:A reduction in total body weight. HPO2016_07_04:HP:0001824|HPO2016_07_04:HP:0004325|ICD9CM_2014:783.21|MSH2017_2016_08_12:D015431|OMIM2016_04_17:MTHU004026|OMIM2016_04_17:MTHU005164|OMIM2016_04_17:MTHU012809|SNOMEDCT_US_2016_09_01:139089007|SNOMEDCT_US_2016_09_01:139091004|SNOMEDCT_US_2016_09_01:161832001|SNOMEDCT_US_2016_09_01:262285001|SNOMEDCT_US_2016_09_01:267158006|SNOMEDCT_US_2016_09_01:89362005 C3810320 Epilepsy, familial temporal lobe, 6 EPILEPSY, FAMILIAL TEMPORAL LOBE, 6 | ETL6 OMIM2016_04_17:615697 C0024143 Lupus nephritis (Nephrotic syndrome in systemic lupus erythematosus) or (lupus nephritis) | (Nephrotic syndrome in systemic lupus erythematosus) or (lupus nephritis) (disorder) | GLOMERULONEPHRITIS LUPUS | GLOMERULONEPHRITIS, LUPUS | Glomerulonephritides, Lupus | Glomerulonephritis, Lupus | LUPUS NEPHRITIS | Lupus Glomerulonephritides | Lupus Glomerulonephritis | Lupus Nephritides | Lupus Nephritis | Lupus Nephritis [Disease/Finding] | Lupus nephritis | Lupus nephritis, NOS | NEPHRITIS, LUPUS | Nephritides, Lupus | Nephritis SLE | Nephritis systemic lupus erythematosus | Nephritis, Lupus | Nephrotic syndrome in systemic lupus erythematosus | SLE Nephritis | SLE glomerulonephritis syndrome | SLE glomerulonephritis syndrome (disorder) | SLE glomerulonephritis syndrome, NOS | SLE nephritis | Systemic lupus erythematosus glomerulonephritis syndrome | Systemic lupus erythematosus glomerulonephritis syndrome (disorder) | lupus glomerulonephritis | lupus nephritis | nephritis due to sle | nephritis due to systemic lupus erythematosis | nephritis due to systemic lupus erythematosis (diagnosis) | nephritis lupus | sle nephritis CSP2006:glomerulonephritis associated with systemic lupus erythematosus; classified into four histologic types: mesangial, focal, diffuse, and membranous. | MSH2017_2016_08_12:Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982). | NCI2016_02D:Glomerulonephritis in the context of systemic lupus erythematosus. | NCI2016_NICHD_1602D:Glomerulonephritis in the context of systemic lupus erythematosus. MSH2017_2016_08_12:D008181|SNOMEDCT_US_2016_09_01:197608009|SNOMEDCT_US_2016_09_01:68815009 C1847626 Deafness, autosomal dominant 36 DEAFNESS, AUTOSOMAL DOMINANT 36 | DFNA36 | Deafness, Autosomal Dominant 36 MSH2017_2016_08_12:C564675|OMIM2016_04_17:606705|OMIM2016_04_17:606706 C3888338 Glaucoma 1, open angle, p GLAUCOMA 1, OPEN ANGLE, P | GLC1P OMIM2016_04_17:177700 C4225210 Oocyte maturation defect 2 OOCYTE MATURATION DEFECT 2 | OOMD2 OMIM2016_04_17:616768|OMIM2016_04_17:616780 C0038362 Stomatitis Inflammation of mouth | Inflammation of oral mucosa | Inflammation of the mouth | Inflammatory condition of oral mucous membrane | MUCOSITIS ORAL | Mucositis oral | Oral Mucositis | Oral mucositis | STOMATITIS | Stomatitides | Stomatitis | Stomatitis (disorder) | Stomatitis NOS | Stomatitis NOS (disorder) | Stomatitis [Disease/Finding] | Stomatitis, NOS | oral mucositis | stomatitis | stomatitis (diagnosis) CHV2011_02:inflammation of the mucous tissue of the mouth | CSP2006:inflammation of the oral mucosa due to local or systemic factors. | HPO2016_07_04:Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. [HPO:probinson] | MSH2017_2016_08_12:INFLAMMATION of the soft tissues of the MOUTH, such as MUCOSA; PALATE; GINGIVA; and LIP. | NCI2016_02D:Inflammation of the oral mucosa due to local or systemic factors. | NCI2016_CTCAE_1602D:A disorder characterized by inflammation of the oral mucosal. | NCI2016_NCI-GLOSS_1602D:Inflammation or irritation of the mucous membranes in the mouth. | NCI2016_NICHD_1602D:Inflammation of the oral mucous membranes. HPO2016_07_04:HP:0010280|ICD10CM_2017:K12.1|MSH2017_2016_08_12:D013280|OMIM2016_04_17:MTHU008854|SNOMEDCT_US_2016_09_01:155660009|SNOMEDCT_US_2016_09_01:196527002|SNOMEDCT_US_2016_09_01:61170000|SNOMEDCT_US_2016_09_01:95361005 C1832560 Rippling muscle disease 2 RIPPLING MUSCLE DISEASE 2 | RIPPLING MUSCLE DISEASE 2 (disorder) | RMD2 | Rippling Muscle Disease 2 MSH2017_2016_08_12:C535686|OMIM2016_04_17:601253|OMIM2016_04_17:606072 C2981638 Stage ivb hilar cholangiocarcinoma Stage IVB Hilar Cholangiocarcinoma | Stage IVB Hilar Cholangiocarcinoma AJCC v7 NCI2016_02D:Stage IVB includes: (Any T, N2, M0); (Any T, Any N, M1). N2: MetastasIs to periaortic, pericaval, superior mesenteric artery, and/or celiac artery lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (from AJCC 7th Ed.) C1845366 Mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance MENTAL RETARDATION, X-LINKED 60, FORMERLY | MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE | MRX60, FORMERLY | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance MSH2017_2016_08_12:C537456|OMIM2016_04_17:300127|OMIM2016_04_17:300486 C0206726 Gliosarcoma Glioblastoma sarcoma component | Glioblastoma with Sarcomatous Component | Glioblastoma with a Sarcomatous Component | Glioblastoma with sarcomatous component | Glioblastoma with sarcomatous component (disorder) | Glioma, Sarcomatous | Gliomas, Sarcomatous | Gliosarcoma | Gliosarcoma (morphologic abnormality) | Gliosarcoma [Disease/Finding] | Gliosarcomas | Sarcomatous Glioma | Sarcomatous Gliomas | [M]Gliosarcoma | gliosarcoma | gliosarcoma; unspecified site MSH2017_2016_08_12:Rare mixed tumors of the brain and rarely the spinal cord which contain malignant neuroectodermal (glial) and mesenchymal components, including spindle-shaped fibrosarcoma cells. These tumors are highly aggressive and present primarily in adults as rapidly expanding mass lesions. They may arise in tissue that has been previously irradiated. (From Br J Neurosurg 1995 Apr;9(2):171-8) | NCI2016_02D:A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO). | NCI2016_NCI-GLOSS_1602D:A type of glioma (cancer of the brain that comes from glial, or supportive, cells). MSH2017_2016_08_12:D018316|SNOMEDCT_US_2016_09_01:189909006|SNOMEDCT_US_2016_09_01:189918008|SNOMEDCT_US_2016_09_01:35262004 C0027498 Nausea and vomiting N&V - Nausea and vomiting | N+V - Nausea and vomiting | NAUSEA AND VOMITING | NAUSEA VOMITING | Nausea and Vomiting | Nausea and vomiting | Nausea and vomiting (disorder) | Nausea and vomiting NOS | Nausea and vomiting symptoms | Nausea with vomiting | Nausea with vomiting, unspecified | Nausea/vomiting | Vomiting and Nausea | [D]Nausea and vomiting | [D]Nausea and vomiting (context-dependent category) | [D]Nausea and vomiting (situation) | [D]Nausea and vomiting NOS | [D]Nausea and vomiting NOS (context-dependent category) | [D]Nausea and vomiting NOS (situation) | nausea and vomiting | nausea with vomiting | nausea with vomiting (symptom) | nausea/vomiting | vomiting and nausea MEDLINEPLUS_20151021:Nausea is an uneasy or unsettled feeling in the stomach together with an urge to vomit. Nausea and vomiting, or throwing up, are not diseases. They can be symptoms of many different conditions. These include morning sickness during pregnancy, infections, migraine headaches, motion sickness, food poisoning, cancer chemotherapy or other medicines.
For vomiting in children and adults, avoid solid foods until vomiting has stopped for at least six hours. Then work back to a normal diet. Drink small amounts of clear liquids to avoid dehydration.
Nausea and vomiting are common. Usually, they are not serious. You should see a doctor immediately if you suspect poisoning or if you have
melanoma vaccine
| NCI2016_NCI-GLOSS_1602D:A cancer vaccine prepared from human melanoma cancer cells. It can be used alone or with other therapy in treating melanoma. SNOMEDCT_US_2016_09_01:373869007|SNOMEDCT_US_2016_09_01:428026004 C0232945 Dysmenorrhea, mechanical Dysmenorrhea, mechanical | Dysmenorrhea, obstructive | Mechanical dysmenorrhea | Mechanical dysmenorrhea (disorder) | Mechanical dysmenorrhea (finding) | Mechanical dysmenorrhoea | Obstructive dysmenorrhea | Obstructive dysmenorrhoea SNOMEDCT_US_2016_09_01:5268006 C2349436 Migraine triggered seizures Migraine triggered seizures | Migraine-Triggered Seizure | Migraine-triggered Seizure | Migraine-triggered seizure | migraine triggered seizures | migraine triggered seizures (diagnosis) NCI2016_02D:A seizure triggered by a migraine. | NCI2016_NICHD_1602D:A seizure triggered by a migraine. ICD10CM_2017:G43.1 C0276535 Aids with kaposi's sarcoma AIDS Related Kaposi's Sarcoma | AIDS related Kaposi's sarcoma | AIDS related multiple hemorrhagic sarcoma | AIDS with Kaposi's sarcoma | AIDS with Kaposi's sarcoma (disorder) | AIDS, Kaposi's Sarcoma | AIDS-Related Kaposi Sarcoma | AIDS-Related Kaposi's Sarcoma | AIDS-associated Kaposi's sarcoma | AIDS-related Kaposi sarcoma | AIDS-related Kaposi's sarcoma | Autoimmune Deficiency Syndrome-Related Kaposi Sarcoma | Epidemic Kaposi's Sarcoma | Epidemic Kaposi's sarcoma | HIV dis,resulting Kaposi sarc | HIV disease resulting in Kaposi's sarcoma | HIV disease resulting in Kaposi's sarcoma (disorder) | HIV disease; Kaposi's sarcoma | HIV disease; sarcoma, Kaposi | Kaposi sarcoma associated with AIDS | Kaposi's Sarcoma AIDS Related | Kaposi's Sarcoma Epidemic Type | Kaposi's sarcoma AIDS related | Kaposi's sarcoma associated with AIDS | Kaposi's sarcoma associated with AIDS (diagnosis) | Kaposi's sarcoma associated with AIDS (disorder) | Kaposi's sarcoma associated with acquired immunodeficiency syndrome | Kaposi's sarcoma associated with acquired immunodeficiency syndrome (disorder) | Kaposi's sarcoma epidemic type | Kaposi's sarcoma, AIDS related | Kaposi's sarcoma, epidemic | Kaposi; sarcoma, resulting from HIV disease | acquired immune deficiency syndrome related Kaposi's sarcoma | aids-related kaposi's sarcoma | epidemic Kaposi's sarcoma | malignant neoplasm sarcoma kaposi's associated with aids | multiple hemorrhagic sarcoma, AIDS related | sarcoma, Kaposi's, AIDS related | sarcoma, multiple hemorrhagic, AIDS related | sarcoma; Kaposi, resulting from HIV disease NCI2016_02D:The most aggressive form of Kaposi sarcoma. It presents in patients who are infected with the human immunodeficiency virus. It can affect the skin and internal organs. MSH2017_2016_08_12:C554498|SNOMEDCT_US_2016_09_01:109385007|SNOMEDCT_US_2016_09_01:186722007|SNOMEDCT_US_2016_09_01:420524008|SNOMEDCT_US_2016_09_01:77865003 C1303009 Microcoria, congenital Congenital microcoria | Congenital miosis | Congenital miosis (disorder) | MCOR | MICROCORIA, CONGENITAL | MIOSIS, CONGENITAL | Microcoria, congenital | Miosis, congenital | Pinhole pupils HPO2016_07_04:Abnormal (non-physiological) constriction of the pupil of congenital onset. [HPO:probinson] HPO2016_07_04:HP:0007728|MSH2017_2016_08_12:C537550|OMIM2016_04_17:156600|SNOMEDCT_US_2016_09_01:400962005 C1836122 Sarcoidosis, early-onset EOS | SARCOIDOSIS, EARLY-ONSET | Sarcoidosis, Early-Onset MSH2017_2016_08_12:C563714|OMIM2016_04_17:605956|OMIM2016_04_17:609464 C0152026 Retinal vasculitis RETINAL VASCULITIS | Retinal Vasculitis | Retinal Vasculitis [Disease/Finding] | Retinal vasculitis | Retinal vasculitis (disorder) | Retinal vasculitis NOS | Retinal vasculitis NOS (disorder) | VASCULITIS RETINAL | Vasculitis retinal | Vasculitis, Retinal | retina; vasculitis | retinal vasculitis | retinal vasculitis (diagnosis) | vasculitis; retina MSH2017_2016_08_12:Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS. ICD10CM_2017:H35.06|ICD9CM_2014:362.18|MSH2017_2016_08_12:D031300|SNOMEDCT_US_2016_09_01:193367006|SNOMEDCT_US_2016_09_01:77628002 C0699739 Sensory neuropathy, hereditary Acroosteolyses, Neurogenic | Acroosteolysis, Neurogenic | Congenital Sensory Neuropathies | Congenital Sensory Neuropathy | Hereditary Sensory Neuropathies | Hereditary Sensory Neuropathy | Hereditary sensory neuropathy | Hereditary sensory neuropathy (disorder) | Hereditary sensory neuropathy, NOS | NEUROPATHY, CONGENITAL, SENSORY | Neurogenic Acroosteolyses | Neurogenic Acroosteolysis | Neuropathies, Congenital Sensory | Neuropathies, Hereditary Sensory | Neuropathy, Congenital Sensory | Neuropathy, Hereditary Sensory | Posterior sensory radicular neuropathy | Sensory Neuropathies, Congenital | Sensory Neuropathies, Hereditary | Sensory Neuropathy, Congenital | Sensory Neuropathy, Hereditary | Sensory neuropathy hereditary | hereditary sensory neuropathies | hereditary sensory neuropathy | hereditary sensory neuropathy (diagnosis) | hereditary; neuropathic, sensory | neuropathy; hereditary, sensory | sensory; neuropathic, hereditary CSP2006:group of peripheral nervous system hereditary disorders with varying course, symptoms, neuropathology, and genetics, but characterized by degeneration of peripheral nerves, and clinically by loss of sensation. ICD9CM_2014:356.2|MSH2017_2016_08_12:D009477|SNOMEDCT_US_2016_09_01:11442006|SNOMEDCT_US_2016_09_01:193163001 C1401747 Quadrilateral fever Quadrilateral fever | fever; quadrilateral | quadrilateral; fever ICD10CM_2017:A78 C4225396 Mental retardation, autosomal dominant 32 MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 | MRD32 OMIM2016_04_17:601408|OMIM2016_04_17:616268 C0042514 Tachycardia, ventricular TACHYCARDIA VENTRICULAR | TACHYCARDIA, VENTRICULAR | Tachycardia - ventric. | Tachycardia ventricular | Tachycardia, Ventricular | Tachycardia, Ventricular [Disease/Finding] | Tachycardia, ventricular | Tachycardia;ventricular | Tachycardias, Ventricular | V.tach | VENTRICULAR TACHYARRHYTHMIA | VENTRICULAR TACHYCARDIA | VT | VT - Ventricular tachycardia | Ventricular Tachycardia | Ventricular Tachycardias | Ventricular tachyarrhythmia | Ventricular tachyarrhythmia (disorder) | Ventricular tachycardia | Ventricular tachycardia (Vtach) | Ventricular tachycardia (disorder) | Ventricular tachycardia, NOS | Ventricular techycardia | tachycardia; ventricular | v tach | ventricular tachyarrhythmia | ventricular tachycardia | ventricular tachycardia (V-tach) | ventricular tachycardia (diagnosis) | ventricular; tachycardia | vt MSH2017_2016_08_12:An abnormally rapid ventricular rhythm usually in excess of 150 beats per minute. It is generated within the ventricle below the BUNDLE OF HIS, either as autonomic impulse formation or reentrant impulse conduction. Depending on the etiology, onset of ventricular tachycardia can be paroxysmal (sudden) or nonparoxysmal, its wide QRS complexes can be uniform or polymorphic, and the ventricular beating may be independent of the atrial beating (AV dissociation). | NCI2016_02D:A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC) | NCI2016_CTCAE_1602D:A disorder characterized by a dysrhythmia with a heart rate greater than 100 beats per minute that originates distal to the bundle of His. | NCI2016_FDA_1602D:An abnormally rapid ventricular rhythm with aberrant ventricular excitation, usually in excess of 150 beats per minute. | NCI2016_NICHD_1602D:A tachycardia originating in the ventricles of the heart. HPO2016_07_04:HP:0004756|ICD10CM_2017:I47.2|MSH2017_2016_08_12:D017180|OMIM2016_04_17:MTHU021461|OMIM2016_04_17:MTHU032821|OMIM2016_04_17:MTHU049281|SNOMEDCT_US_2016_09_01:155370003|SNOMEDCT_US_2016_09_01:195075005|SNOMEDCT_US_2016_09_01:25569003|SNOMEDCT_US_2016_09_01:6624005 C0341790 Scrotum tumor Neoplasia of the scrotum | Neoplasm of Scrotum | Neoplasm of scrotum | Neoplasm of scrotum (disorder) | Neoplasm of the Scrotum | Neoplasm of the scrotum | Scrotal Neoplasm | Scrotal Tumor | Scrotal neoplasms | Scrotum tumor | Tumor of Scrotum | Tumor of scrotum | Tumor of the Scrotum | Tumour of scrotum | neoplasm of scrotum | neoplasm of scrotum (diagnosis) | scrotum tumor | tumor scrotum HPO2016_07_04:A tumor (abnormal growth of tissue) of the scrotum. [HPO:probinson] | NCI2016_02D:A benign or malignant neoplasm that affects the scrotum. HPO2016_07_04:HP:0100849|SNOMEDCT_US_2016_09_01:126905005 C1835884 Triangular face Face with broad temples and narrow chin | Triangular face | Triangular facial shape | Triangular facies HPO2016_07_04:Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. [DDD:jclayton-smith, pmid:19125436] HPO2016_07_04:HP:0000325|OMIM2016_04_17:MTHU000229|OMIM2016_04_17:MTHU002598 C4024750 Abnormality of the palpebral fissures Abnormality of the opening between the eyelids | Abnormality of the palpebral fissures | Deformity of the palpebral fissures | Malformation of the palpebral fissures HPO2016_07_04:An anomaly of the space between the medial and lateral canthi of the two open eyelids. [HPO:probinson] HPO2016_07_04:HP:0008050 C0020453 Hyperesthesia Cutaneous hyperesthesia | HYPERAESTHESIA | HYPERESTHESIA | Heightened sensation | Heightened sensation of skin | Heightened sensation of skin (finding) | Hyperaesthesia | Hyperaesthesia (increased sensitivity) | Hyperasthesia | Hyperesthesia | Hyperesthesia (finding) | Hyperesthesia (increased sensitivity) | Hyperesthesia [Disease/Finding] | Hyperesthesias | Hyperesthetic Sensation | Hyperesthetic Sensations | Hypersensitivity - sensation | Increased sensitivity - sensation | Oxyesthesia | Oxyesthesias | Sensation, Hyperesthetic | Sensations, Hyperesthetic | [D]Hyperaesthesia | [D]Hyperaesthesia (situation) | [D]Hyperesthesia | [D]Hyperesthesia (context-dependent category) | [D]Hyperesthesia (situation) | hyperaesthesia | hyperasthesia | hyperesthesia | hyperesthesia as symptom | hyperesthesias | increased sensitivity to touch or pain | increased sensitivity to touch or pain (symptom) | increased sensitivity to touch or pain as symptom MSH2017_2016_08_12:Increased sensitivity to cutaneous stimulation due to a diminished threshold or an increased response to stimuli. | NCI2016_02D:Increased sensitivity to tactile stimulation. | NCI2016_NICHD_1602D:Increased sensitivity to tactile stimulation. HPO2016_07_04:HP:0100963|ICD10CM_2017:R20.3|MSH2017_2016_08_12:D006941|SNOMEDCT_US_2016_09_01:14151009|SNOMEDCT_US_2016_09_01:158225007|SNOMEDCT_US_2016_09_01:206854008|SNOMEDCT_US_2016_09_01:247327006 C0042131 Uterine diseases DISORDER UTERINE (NOS) | Disease of uterus | Disease of uterus (disorder) | Disease of uterus, NOS | Disease or syndrome of uterus | Disease, Uterine | Diseases, Uterine | Disorder of uterus | Disorder of uterus (disorder) | Disorder of uterus NOS | Disorder of uterus NOS (disorder) | Disorder uterine (NOS) | UTERINE DISORDER | UTERINE DISORDER (NOS) | UTERINE DISORDER NOS | Unspecified disorder of uterus | Uterine Disease | Uterine Diseases | Uterine Diseases [Disease/Finding] | Uterine Disorder | Uterine disease | Uterine disease or syndrome | Uterine disease, NOS | Uterine disorder | Uterine disorder (NOS) | Uterine disorder NOS | Uterine disorder, NOS | Uterine disorders NOS | Uterus--Diseases | disease uterus | diseases uterine | diseases uterus | disorders uterine | disorders uterus | nos disorder of uterus | uterine disease | uterine diseases | uterine disorder | uterine disorders | uterine disorders (diagnosis) | uterus | uterus disease | uterus disorder | uterus; disorder CSP2006:deviation from or interruption of the normal structure or function of the uterus. | MEDLINEPLUS_20151021:The uterus, or womb, is the place where a baby grows when a woman is pregnant. The first sign of a problem with the uterus may be bleeding between periods or after sex. Causes can include hormones, thyroid problems, fibroids, polyps, cancer, infection, or pregnancy.
Treatment depends on the cause. Sometimes birth control pills treat hormonal imbalances. If a thyroid problem is the cause, treating it may also stop the bleeding. If you have cancer or hyperplasia, an overgrowth of normal cells in the uterus, you may need surgery.
With two other uterine problems, tissue that normally lines the uterus grows where it is not supposed to. In endometriosis, it grows outside the uterus. In adenomyosis, it grows in the uterus's outside walls. Pain medicine may help. Other treatments include hormones and surgery.
| MSH2017_2016_08_12:Pathological processes involving any part of the UTERUS. | NCI2016_02D:A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma. ICD10CM_2017:N85.9|ICD9CM_2014:621.9|MSH2017_2016_08_12:D014591|SNOMEDCT_US_2016_09_01:12337004|SNOMEDCT_US_2016_09_01:156004005|SNOMEDCT_US_2016_09_01:156009000|SNOMEDCT_US_2016_09_01:198335006|SNOMEDCT_US_2016_09_01:237068005 C0235770 Ovarian cyst malignant Malignant Ovarian Cyst | Malignant ovarian cyst | OVARIAN CYST MALIGNANT | Ovarian cyst malignant NCI2016_02D:A cystic cancerous tumor arising from the ovary. C0079153 Hyperkeratosis, epidermolytic BCIE | BIE | BIE - Bullous ichthyosiform erythroderma | BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA | BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ | BULLOUS ICHTHYOSIFORM ERYTHRODERMA | Bullous Congenital Ichthyosiform Erythroderma | Bullous Erythroderma Ichthyosiforme | Bullous Erythroderma Ichthyosiformes | Bullous Erythroderma Ichthyosiformis Congenita of Brocq | Bullous Ichthyosiform Erythroderma | Bullous Ichthyosiform Erythroderma Congenital | Bullous Ichthyosiform Erythrodermas | Bullous congenital ichthyosiform erythroderma | Bullous ichthyosiform erythroderma | Bullous ichthyosiform erythroderma (disorder) | Congenital Bullous Ichthyosiform Erythroderma | Congenital Ichthyosiform Erythroderma, Bullous | Congenital bullous ichthyosiform erythroderma | Congenital ichthyosiform erythroderma, bullous | Dominant congenital ichthyosiform erythroderma | Dominant ichthyosis vulgaris | EHK | EPIDERMOLYTIC HYPERKERATOSIS | EPIDERMOLYTIC ICHTHYOSIS | Epidermolytic Hyperkeratoses | Epidermolytic Hyperkeratosis | Epidermolytic Ichthyosis | Epidermolytic hyperkeratosis | Epidermolytic palmoplantar hyperkeratosis | Erythroderma Ichthyosiforme, Bullous | Erythroderma Ichthyosiformes, Bullous | Erythroderma, Bullous Ichthyosiform | Erythrodermas, Bullous Ichthyosiform | Hyperkeratoses, Epidermolytic | Hyperkeratosis, Epidermolytic | Hyperkeratosis, Epidermolytic [Disease/Finding] | Hyperkeratosis, epidermolytic | Ichthyosiform Erythroderma, Bullous | Ichthyosiform Erythroderma, Bullous Congenital | Ichthyosiform Erythrodermas, Bullous | Ichthyosiforme, Bullous Erythroderma | Ichthyosiformes, Bullous Erythroderma | congenital bullous ichthyosiform erythroderma (diagnosis) | epidermolytic hyperkeratosis | erythema; ichthyosiforme congenitum bullosum | ichthyosiforme congenitum bullosum; erythema HPO2016_07_04:An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized, erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. [HPO:probinson] | MSH2017_2016_08_12:A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder. | NCI2016_02D:An autosomal dominant inherited skin disorder caused by mutations in the KRT1 and KRT10 genes. It is manifested at birth and is characterized by generalized erythema, skin blisters and skin fragility. HPO2016_07_04:HP:0007475|ICD10CM_2017:Q80.3|MSH2017_2016_08_12:D017488|OMIM2016_04_17:113800|OMIM2016_04_17:139350|OMIM2016_04_17:148080|OMIM2016_04_17:MTHU049753|SNOMEDCT_US_2016_09_01:20512000|SNOMEDCT_US_2016_09_01:239071005|SNOMEDCT_US_2016_09_01:254167000 C0339535 Night blindness, congenital stationary CSNB - Congenital stationary night blindness | Congenital night blindness | Congenital stationary night blindness | Congenital stationary night blindness (disorder) | Night blindness since birth | Night blindness, congenital stationary | Static congenital hemeralopia | congenital stationary night blindness (diagnosis) HPO2016_07_04:A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset. [HPO:probinson] HPO2016_07_04:HP:0007642|MSH2017_2016_08_12:C536122|OMIM2016_04_17:MTHU037806|SNOMEDCT_US_2016_09_01:232061009 C1855523 Leg, absence deformity of, with congenital cataract LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT | Leg, Absence Deformity of, with Congenital Cataract MSH2017_2016_08_12:C565442|OMIM2016_04_17:246000 C1864968 Deafness, autosomal recessive 51 DEAFNESS, AUTOSOMAL RECESSIVE 51 | DFNB51 | Deafness, autosomal recessive 51 MSH2017_2016_08_12:C538202|OMIM2016_04_17:609941 C3540450 Hypogonadotropic hypogonadism 14 with or without anosmia HH14 | HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA OMIM2016_04_17:614858 C0406044 Other pruritic conditions nos Other pruritic conditions NOS | Other pruritic conditions NOS (disorder) SNOMEDCT_US_2016_09_01:201026001|SNOMEDCT_US_2016_09_01:267803005 C1321865 Juvenile astrocytoma Astrocytic Tumors, Childhood | Childhood Astrocytic Neoplasm | Childhood Astrocytic Tumor | Childhood Astrocytic Tumour | Juvenile astrocytoma | Juvenile astrocytoma (morphologic abnormality) | Pediatric Astrocytic Neoplasm | Pediatric Astrocytic Tumor | astrocytoma; juvenile, unspecified site | juvenile; astrocytoma, unspecified site NCI2016_02D:An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location. SNOMEDCT_US_2016_09_01:128854008|SNOMEDCT_US_2016_09_01:253065004|SNOMEDCT_US_2016_09_01:67859002 C0854107 Haemorrhage subcutaneous Bleeding below the skin | Haemorrhage subcutaneous | Hemorrhage subcutaneous | Subcutaneous hemorrhage | hemorrhage subcutaneous | hemorrhage; subcutaneous | subcutaneous hemorrhage | subcutaneous; hemorrhage HPO2016_07_04:This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). [HPO:probinson] HPO2016_07_04:HP:0001933 C0265656 Hallux abductovalgus Congenital Hallux Valgus | Congenital hallux valgus | Congenital hallux valgus (disorder) | Congenital hallux valgus [Ambiguous] | HAV - Hallux abductovalgus | HV - Hallux valgus | Hallux abductovalgus | Hallux valgus | congenital hallux valgus | congenital hallux valgus (diagnosis) | hallux abductovalgus | hallux valgus | hallux; valgus, congenital | valgus; hallux, congenital SNOMEDCT_US_2016_09_01:205345005|SNOMEDCT_US_2016_09_01:53842005 C0221025 Kasabach-merritt syndrome HEMANGIOMA-THROMBOCYTOPENIA SYNDROME | Haemangioma-haemorrhage syndrome | Haemangioma-thrombocytopaenia syndrome | Haemangioma-thrombocytopenia syndrome | Haemangiomatosis with thrombocytopenia | Hemangioma Thrombocytopenia Syndrome | Hemangioma Thrombocytopenia Syndromes | Hemangioma-Hemorrhage Syndrome | Hemangioma-Thrombocytopenia Syndrome | Hemangioma-hemorrhage syndrome | Hemangioma-thrombocytopenia syndrome | Hemangiomatosis with Thrombocytopenia | Hemangiomatosis with thrombocytopenia | KASABACH MERRIT SYNDROME | KASABACH-MERRITT SYNDROME | KMS | Kasabach Merritt Phenomenon | Kasabach Merritt Syndrome | Kasabach Merritt syndrome | Kasabach-Merritt Phenomenon | Kasabach-Merritt Syndrome | Kasabach-Merritt Syndrome [Disease/Finding] | Kasabach-Merritt syndrome | Kasabach-Merritt syndrome (disorder) | Phenomenon, Kasabach-Merritt | Syndrome, Hemangioma Thrombocytopenia | Syndrome, Kasabach-Merritt | Syndrome, Thrombocytopenia-Hemangioma | Syndromes, Hemangioma Thrombocytopenia | Syndromes, Thrombocytopenia-Hemangioma | THROMBOPENIA-HEMANGIOMA SYNDROME | Thrombocytopenia Hemangioma Syndrome | Thrombocytopenia-Hemangioma Syndrome | Thrombocytopenia-Hemangioma Syndromes | Thrombocytopenia-haemangioma syndrome | Thrombocytopenia-hemangioma syndrome | Thrombopenia-Hemangioma Syndrome | kasabach merritt syndrome | kasabach-merritt syndrome MSH2017_2016_08_12:Rapidly growing vascular lesion along the midline axis of the neck, upper trunk, and extremities that is characterized by CONSUMPTION COAGULOPATHY; THROMBOCYTOPENIA; and HEMOLYTIC ANEMIA. It is often associated with infantile Kaposiform HEMANGIOENDOTHELIOMA and other vascular tumors such as tufted ANGIOMA. | NCI2016_02D:A cavernous angiomatosis associated with the destruction of platelets, resulting in thrombocytopenia. MSH2017_2016_08_12:D059885|OMIM2016_04_17:141000|OMIM2016_04_17:MTHU041322|SNOMEDCT_US_2016_09_01:86635005 C0235095 Visual field constriction Concentric narrowing of visual field | Concentric narrowing of visual fields | Constricted visual field | Constricted visual fields | Constriction of peripheral visual field | Depressed visual field | Generalised constriction of visual field | Generalised visual contraction | Generalised visual field constriction | Generalized constriction of visual field | Generalized contraction of visual field | Generalized visual contraction | Generalized visual contraction (finding) | Generalized visual field constriction | Generalized visual field constriction (finding) | Limited peripheral vision | Reduced visual fields | VISUAL FIELD CONSTRICTION | Visual field constriction | Visual field constriction (finding) | Visual fields reduced | constriction; visual field | contraction; visual field | generalized contraction of visual field | generalized contraction of visual field (diagnosis) | visual field constriction (diagnosis) | visual field; constriction | visual field; contraction HPO2016_07_04:HP:0001133|ICD10CM_2017:H53.48|OMIM2016_04_17:MTHU007829|OMIM2016_04_17:MTHU009521|OMIM2016_04_17:MTHU018980|OMIM2016_04_17:MTHU028986|OMIM2016_04_17:MTHU039691|OMIM2016_04_17:MTHU043759|OMIM2016_04_17:MTHU047492|OMIM2016_04_17:MTHU048968|SNOMEDCT_US_2016_09_01:1151008|SNOMEDCT_US_2016_09_01:193678009|SNOMEDCT_US_2016_09_01:267628004 C0334092 Hamartomatous polyp Hamartomatous Polyp | Hamartomatous polyp | Hamartomatous polyp (morphologic abnormality) | Hamartomatous polyposis | Hamartomatous polyps | Peutz-Jeghers' polyp HPO2016_07_04:Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture. [HPO:sdoelken, pmid:17768394] | NCI2016_02D:A polyp characterized by an overgrowth of mature cells and tissues that normally occur in the affected area. HPO2016_07_04:HP:0004390|OMIM2016_04_17:MTHU017022|SNOMEDCT_US_2016_09_01:27391005 C0392571 B.eye-mvi, l eye-low vis.unsp. B.eye-MVI, L eye-low vis.unsp. | Better eye: moderate VI, Lesser eye: low vision unspecified | Better eye: moderate vision impairment; lesser eye: impairment not further specified | Better eye: moderate visual impairment, Lesser eye: low vision unspecified | Better eye: moderate visual impairment, Lesser eye: low vision unspecified (disorder) | Impairment level: better eye: moderate impairment: lesser eye: not further specified | Impairment level: better eye: moderate impairment: lesser eye: not further specified (disorder) | Impairment level: better eye: moderate impairment; lesser eye: not further specified ICD9CM_2014:369.23|SNOMEDCT_US_2016_09_01:193726003|SNOMEDCT_US_2016_09_01:63385005 C0085648 Synovial cyst Cyst - synovial | Cyst, Synovial | Cyst;synovial | Cysts, Synovial | Synovial Cyst | Synovial Cyst [Disease/Finding] | Synovial Cysts | Synovial cyst | Synovial cyst (disorder) | Synovial cyst (morphologic abnormality) | Synovial cyst -RETIRED- | Synovial cyst NOS | Synovial cyst unspecified | Synovial cyst unspecified (disorder) | Synovial cyst, NOS | Synovial cyst, unspecified | Synovial cysts | cyst; synovial | ganglion | ganglion cyst | myxoid cyst | synovial cyst | synovial cyst (diagnosis) | synovial cysts | synovial; cyst CHV2011_02:tumor-like lesions at joints, developed from the SYNOVIAL MEMBRANE of a joint | MSH2017_2016_08_12:Non-neoplastic tumor-like lesions at joints, developed from the SYNOVIAL MEMBRANE of a joint through the JOINT CAPSULE into the periarticular tissues. They are filled with SYNOVIAL FLUID with a smooth and translucent appearance. A synovial cyst can develop from any joint, but most commonly at the back of the knee, where it is known as POPLITEAL CYST. ICD10CM_2017:M71.3|ICD9CM_2014:727.40|MSH2017_2016_08_12:D013581|OMIM2016_04_17:MTHU026376|SNOMEDCT_US_2016_09_01:123250005|SNOMEDCT_US_2016_09_01:156687004|SNOMEDCT_US_2016_09_01:202937001|SNOMEDCT_US_2016_09_01:240205003|SNOMEDCT_US_2016_09_01:270543007|SNOMEDCT_US_2016_09_01:71307009 C3151462 Mental retardation, autosomal recessive 14 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 | MRT14 OMIM2016_04_17:610057|OMIM2016_04_17:614020 C4024168 Thickened ears Thickened ears HPO2016_07_04:Increased thickness of the external ear. [] HPO2016_07_04:HP:0009894 C2931781 Adenosine monophosphate deaminase deficiency Adenosine monophosphate deaminase deficiency | Deficiency of AMP aminase | Deficiency of AMP deaminase | Deficiency of AMP deaminase (disorder) | Deficiency of adenosine monophosphate deaminase | Deficiency of adenosine monophosphate deaminase (disorder) | Deficiency of adenylic acid deaminase | Myoadenylate Deaminase Deficiency, Myopathy due to MSH2017_2016_08_12:C538234|SNOMEDCT_US_2016_09_01:124525004 C2751803 Herpes simplex encephalitis, susceptibility to, 2 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 2 | HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2 | IIAE2 OMIM2016_04_17:603029|OMIM2016_04_17:613002 C0431447 Synophrys Monobrow | Synophris | Synophrys | Synophrys (disorder) | Unibrow HPO2016_07_04:Meeting of the medial eyebrows in the midline. [pmid:19125427] HPO2016_07_04:HP:0000664|OMIM2016_04_17:MTHU000253|SNOMEDCT_US_2016_09_01:253207002 C0280135 Germ cell tumor, mixed, ovarian Mixed Germ Cell Neoplasm of Ovary | Mixed Germ Cell Neoplasm of the Ovary | Mixed Germ Cell Tumor of Ovary | Mixed Germ Cell Tumor of the Ovary | Ovarian Mixed Germ Cell Neoplasm | Ovarian Mixed Germ Cell Tumor | Ovarian germ cell tumor mixed | Ovarian germ cell tumour mixed | germ cell tumor, mixed, ovarian | malignant mixed germ cell tumor of ovary | malignant mixed germ cell tumor of ovary (diagnosis) | mixed germ cell tumor, ovarian | ovarian mixed germ cell tumor NCI2016_02D:An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor. C0040412 Fissured tongue Fissure of tongue | Fissured Tongue | Fissured Tongues | Fissured tongue | Furrowed Tongue | Furrowed Tongues | Furrowed tongue | Grooved tongue | LINGUA PLICATA | Lingua Plicata | Lingua Plicatas | Lingua plicata | Lingual furrow | Lingue plicata | Plicata, Lingua | Plicatas, Lingua | Plicated tongue | Plicated tongue (disorder) | Prominent tongue grooves | SCROTAL TONGUE | Scrotal Tongue | Scrotal Tongues | Scrotal tongue | TONGUE FISSURE | Tongue, Fissured | Tongue, Fissured [Disease/Finding] | Tongue, Furrowed | Tongue, Scrotal | Tongues, Fissured | Tongues, Furrowed | Tongues, Scrotal | fissure tongue | fissure; tongue | fissured tongue | fissures tongue | fissuring tongue | furrowed tongue | furrowed; tongue | lingua plicata | lingua; plicata | plicata; lingua | plicated tongue | plicated tongue (diagnosis) | scrotal tongue | scrotal tongue (physical finding) | scrotum; tongue | tongue fissure | tongue fissured | tongue scrotal | tongue; fissure | tongue; furrowed | tongue; scrotal HPO2016_07_04:Accentuation of the grooves on the dorsal surface of the tongue. [pmid:19125428] | MSH2017_2016_08_12:The occurrence of of breaks or slits in the tissue of the dorsal surface of the TONGUE. HPO2016_07_04:HP:0000221|ICD10CM_2017:K14.5|ICD9CM_2014:529.5|MSH2017_2016_08_12:D014063|OMIM2016_04_17:137400|OMIM2016_04_17:MTHU008216|OMIM2016_04_17:MTHU017231|OMIM2016_04_17:MTHU022678|OMIM2016_04_17:MTHU037688|OMIM2016_04_17:MTHU046701|SNOMEDCT_US_2016_09_01:204627005|SNOMEDCT_US_2016_09_01:52368004 C1849198 Superficial corneal opacities Opacification of the corneal epithelium | Superficial corneal opacities HPO2016_07_04:Lack of transparency of the corneal epithelium. [DDD:gblack] HPO2016_07_04:HP:0007727|OMIM2016_04_17:MTHU009442 C0015670 Child father Father Child Relations | Father Child Relationship | Father and child | Father-Child Relation | Father-Child Relations | Father-Child Relationship | Father-Child Relationships | Relation, Father-Child | Relations, Father-Child | Relationship, Father-Child | Relationships, Father-Child | child father | child fathering | childs father | father-child relations MSH2017_2016_08_12:Interaction between the father and the child. | MSHNOR2016:Interaksjon mellom ein far og eit (eller fleire) barn. | PSY2004:For animals consider ANIMAL PARENTAL BEHAVIOR. MSH2017_2016_08_12:D005219 C0338342 Pnet, cerebellar, childhood, recurrent PNET, cerebellar, childhood, recurrent | PNET, cerebellar, pediatric, recurrent | PNET, childhood cerebellar, recurrent | PNET, childhood infratentorial, recurrent | PNET, infratentorial, childhood, recurrent | PNET, infratentorial, pediatric, recurrent | PNET, pediatric cerebellar, recurrent | PNET, pediatric infratentorial, recurrent | Recurrent Childhood Medulloblastoma | Recurrent Pediatric Medulloblastoma | Relapsed Childhood Medulloblastoma | Relapsed Pediatric Medulloblastoma | childhood cerebellar PNET, recurrent | childhood infratentorial PNET, recurrent | childhood infratentorial primitive neuroectodermal tumor, recurrent | childhood medulloblastoma, recurrent | medulloblastoma, childhood, recurrent | medulloblastoma, pediatric, recurrent | pediatric cerebellar PNET, recurrent | pediatric infratentorial PNET, recurrent | pediatric medulloblastoma, recurrent | recurrent PNET, childhood cerebellar | recurrent PNET, childhood infratentorial | recurrent PNET, infratentorial, childhood | recurrent PNET, infratentorial, pediatric | recurrent PNET, pediatric cerebellar | recurrent PNET, pediatric infratentorial | recurrent cerebellar PNET, childhood | recurrent cerebellar PNET, pediatric | recurrent cerebellar primitive neuroectodermal tumor, childhood | recurrent cerebellar primitive neuroectodermal tumor, pediatric | recurrent cerebellar, childhood, PNET | recurrent cerebellar, pediatric, PNET | recurrent childhood cerebellar PNET | recurrent childhood cerebellar primitive neuroectodermal tumor | recurrent childhood infratentorial PNET | recurrent childhood infratentorial primitive neuroectodermal tumor | recurrent childhood medulloblastoma | recurrent infratentorial PNET, childhood | recurrent infratentorial PNET, pediatric | recurrent infratentorial primitive neuroectodermal tumor, childhood | recurrent infratentorial primitive neuroectodermal tumor, pediatric | recurrent infratentorial, childhood, PNET | recurrent infratentorial, pediatric, PNET | recurrent medulloblastoma, childhood | recurrent medulloblastoma, pediatric | recurrent pediatric cerebellar PNET | recurrent pediatric cerebellar primitive neuroectodermal tumor | recurrent pediatric infratentorial PNET | recurrent pediatric infratentorial primitive neuroectodermal tumor | recurrent pediatric medulloblastoma | recurrent primitive neuroectodermal tumor, childhood cerebellar | recurrent primitive neuroectodermal tumor, childhood infratentorial | recurrent primitive neuroectodermal tumor, pediatric cerebellar | recurrent primitive neuroectodermal tumor, pediatric infratentorial NCI2016_02D:The reemergence of childhood medulloblastoma after a period of remission. C0023643 Lichen disease LICHEN | Lichen | Lichen (disorder) | Lichen NOS | Lichen NOS (disorder) | Lichen condition | Lichen disease | Lichen of skin | Lichen of skin (disorder) | Lichen unspecified | Lichen, NOS | Lichen, unspecified | lichen | lichen (diagnosis) | lichen disease | lichen skin CHV2011_02:skin disease caused by lichen fungus ICD10CM_2017:L28.0|ICD9CM_2014:697|ICD9CM_2014:697.9|SNOMEDCT_US_2016_09_01:156376003|SNOMEDCT_US_2016_09_01:156379005|SNOMEDCT_US_2016_09_01:200998004|SNOMEDCT_US_2016_09_01:201010002|SNOMEDCT_US_2016_09_01:88996004 C0029582 Diseases other respiratory OTHER DISEASES OF RESPIRATORY SYSTEM | Oth diseases resp system | Other disease respiratory system | Other diseases of respiratory system | Other diseases of respiratory system NOS | Other diseases of respiratory system NOS (disorder) | Other diseases of the respiratory system | Other diseases of the respiratory system (J96-J99) | Other resp.system dis.NOS | Other resp.system diseases | Other respiratory disorders | Other respiratory system diseases | Other respiratory system diseases (disorder) | Other respiratory system diseases NOS | Other respiratory system diseases NOS (disorder) | Othr respiratory systm dis NOS | Respiratory disease other | [X]Oth diseases resp system | [X]Other diseases of the respiratory system | [X]Other diseases of the respiratory system (disorder) | diseases other respiratory | diseases other respiratory system | other diseases of the respiratory system | other respiratory disorder | other respiratory disorder (diagnosis) ICD10CM_2017:J96-J99|ICD10CM_2017:J98|ICD9CM_2014:510-519.99|ICD9CM_2014:519|SNOMEDCT_US_2016_09_01:155603009|SNOMEDCT_US_2016_09_01:196057004|SNOMEDCT_US_2016_09_01:196184000|SNOMEDCT_US_2016_09_01:196255004|SNOMEDCT_US_2016_09_01:266373008 C1328971 Displacement of intervertebral disc without myelopathy Discogenic syndrome NOS | Discogenic syndrome, NOS | Displacement of intervertebral disc without myelopathy | Displacement of intervertebral disc without myelopathy (disorder) | Displacement of intervertebral disc, site unspecified without myelopathy | Displacement of intervertebral disc, site unspecified, without myelopathy | discogenic syndrome | discogenic syndrome (diagnosis) ICD9CM_2014:722.2|SNOMEDCT_US_2016_09_01:70218004 C1336699 Telangiectatic glomangioma Telangiectatic Glomangioma NCI2016_02D:A glomus tumor characterized by huge vascular channel formations. C1336811 Transplant-related hepatocellular carcinoma Transplant-Related Hepatocellular Carcinoma NCI2016_02D:A hepatocellular carcinoma that develops following renal transplantation. C0341225 Gastric hamartoma Gastric Hamartoma | Gastric Hamartomatous Polyp | Hamartoma of Stomach | Hamartoma of stomach | Hamartoma of stomach (disorder) | Hamartoma of the Stomach NCI2016_02D:A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations. SNOMEDCT_US_2016_09_01:235685007 C3554575 Maple syrup urine disease, mild variant MAPLE SYRUP URINE DISEASE, MILD VARIANT | MSUDMV OMIM2016_04_17:615135 C0267067 Esophageal aperistalsis Aperistalsis of esophagus | Aperistalsis of esophagus (disorder) | Aperistalsis of oesophagus | Loss of peristalsis of esophagus | Loss of peristalsis of oesophagus | esophageal aperistalsis | esophageal aperistalsis (diagnosis) SNOMEDCT_US_2016_09_01:69686006 C0206642 Parosteal osteosarcoma Juxtacortical Osteogenic Sarcoma | Juxtacortical Osteosarcoma | Juxtacortical Osteosarcomas | Juxtacortical osteogenic sarcoma | Juxtacortical osteosarcoma | Juxtacortical osteosarcoma (disorder) | Juxtacortical osteosarcoma (morphologic abnormality) | Juxtacortical osteosarcoma -RETIRED- | Juxtacortical osteosarcoma [Ambiguous] | Osteosarcoma, Juxtacortical | Osteosarcoma, Juxtacortical [Disease/Finding] | Osteosarcomas, Juxtacortical | Parosteal Osteogenic Sarcoma | Parosteal Osteosarcoma | Parosteal osteosarcoma | Parosteal osteosarcoma (morphologic abnormality) | juxtacortical osteosarcoma | juxtacortical osteosarcoma (diagnosis) | juxtacortical; osteosarcoma | osteosarcoma; juxtacortical | osteosarcoma; parosteal | osteosarcomas periosteal | parosteal osteosarcoma | parosteal; osteosarcoma | periosteal osteosarcoma MSH2017_2016_08_12:A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed) | NCI2016_02D:A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent. MSH2017_2016_08_12:D018217|SNOMEDCT_US_2016_09_01:128918008|SNOMEDCT_US_2016_09_01:189879006|SNOMEDCT_US_2016_09_01:91242000 C1332968 Childhood extraosseous osteosarcoma Childhood Extraosseous Osteosarcoma | Childhood Extraskeletal Osteosarcoma | Pediatric Extraosseous Osteosarcoma | Pediatric Extraskeletal Osteosarcoma NCI2016_02D:An osteosarcoma arising from the soft tissue, and occurring during childhood. C1257806 Chromosomal instability Chromosomal Instabilities | Chromosomal Instability | Chromosomal Instability [Disease/Finding] | Chromosomal instability | Chromosome Instabilities | Chromosome Instability | Instabilities, Chromosomal | Instabilities, Chromosome | Instability, Chromosomal | Instability, Chromosome | chromosomal instability MSH2017_2016_08_12:An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional. | NCI2016_02D:The instability of chromosomes is attributed to the continuous formation of novel chromosome mutations. These mutations form at an elevated rate in comparison to the normal cell population. The increased frequency of structural chromosome aberrations can be caused by an abnormally high incidence of DNA double-strand breaks and translocations. Screening for chromosomal breakage and rearrangement is used as a diagnostic tool in Fanconi anemia. MSH2017_2016_08_12:D043171|OMIM2016_04_17:MTHU020982 C3665439 Mature cataract Cataract, complete | Cataract, mature | Cataract, total | Complete cataract | Mature cataract | Mature cataract (disorder) | Total cataract | Total or mature cataract | cataract mature | mature cataract | mature cataract (physical finding) HPO2016_07_04:A Congenital cataract characterized by an opacity of all the fibers of a lens. [HPO:probinson] HPO2016_07_04:HP:0010700|ICD9CM_2014:366.17|OMIM2016_04_17:MTHU042648|OMIM2016_04_17:MTHU043636|SNOMEDCT_US_2016_09_01:849000 C0344311 Blister Blister | Blistered | Blistering eruption | Blistering eruption (disorder) | Blistering rash | blister | blistered | blistering | blistering eruption | blisters | vesication SNOMEDCT_US_2016_09_01:247464001 C3662073 Vertigo as sequela of cerebrovascular disease Vertigo as sequela of cerebrovascular disease | Vertigo as sequela of cerebrovascular disease (disorder) SNOMEDCT_US_2016_09_01:26021000119107 C0268136 Xeroderma pigmentosum, group b XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B | XP, GROUP B | XP-B | XPB | XPBC | Xeroderma Pigmentosum Group B | Xeroderma Pigmentosum, Complementation Group B | Xeroderma Pigmentosum, Group B | Xeroderma pigmentosum group B | Xeroderma pigmentosum, group B | Xeroderma pigmentosum, group B (disorder) MSH2017_2016_08_12:C562590|OMIM2016_04_17:610651|SNOMEDCT_US_2016_09_01:1073003 C0036202 Sarcoidosis BESNIER-BOECK-SCHAUMANN DISEASE | BOECK SARCOID | Benign Lymphogranulomatosis | Benign Lymphogranulomatosis, Schaumann's | Benign lymphogranulomatosis of Schaumann | Besnier Boeck Disease | Besnier Boeck Schaumann Syndrome | Besnier Boeck disease | Besnier-Boeck | Besnier-Boeck Disease | Besnier-Boeck-Schaumann Syndrome | Besnier-Boeck-Schaumann disease | Besnier-Boeck-Schaumann syndrome | Besnier-Boeck-Schaumann's disease | Besnier; lupus pernio | Boeck Disease | Boeck Sarcoid | Boeck Sarcoid, any site | Boeck's Disease | Boeck's Sarcoid | Boeck's disease | Boeck's sarcoid | Boeck's sarcoidosis | Boeck; disease | Boeck; sarcoid | Boecks Disease | Boecks Sarcoid | Boecks sarcoidosis | Darier-Roussy Sarcoid | Darier-Roussy sarcoid | Darier-Roussy; sarcoid | Disease, Schaumann | HUTCHINSON-BOECK SYNDROME | Hutchinson-Boeck | LYMPHOGRANULOMATOSIS, BENIGN | Lupus pernio of Besnier | Lupus pernio, Besnier | Miliary Lupoid of Boeck | Miliary lupoid of Boeck | SARCOID | SARCOIDOSIS | SCHAUMANN SYNDROME | Sarcoid | Sarcoid NOS | Sarcoid, Boeck's | Sarcoidoses | Sarcoidosis | Sarcoidosis (disorder) | Sarcoidosis NOS | Sarcoidosis [Disease/Finding] | Sarcoidosis, NOS | Sarcoidosis, unspecified | Schaumann Disease | Schaumann Syndrome | Schaumann's Syndrome | Schaumann's Syndromes | Schaumann's disease | Schaumann; benign lymphogranulomatosis | Schaumann; disease or syndrome | Syndrome, Besnier-Boeck-Schaumann | Syndrome, Schaumann | Syndrome, Schaumann's | benign lymphogranulomatosis | benign lymphogranulomatosis (diagnosis) | benign lymphogranulomatosis of Schaumann | benign; lymphogranulomatosis | boeck's disease | boeck's sarcoid | lymphogranulomatosis | lymphogranulomatosis (benign) | lymphogranulomatosis; benign | sarcoid | sarcoid; Boeck | sarcoid; Darier-Roussy | sarcoidosis | sarcoidosis (diagnosis) | sarcoids | schaumann disease | schaumann syndrome | schaumann's disease | syndrome; Schaumann AIR93:WHAT: Sarcoidosis: Sarcoidosis: a disorder of unknown etiology that affects many organ systems with noncaseating epithelioid cell granulomas. It has a special predilection for the lung and lymph tissues. WHY: Sarcoidosis can result in an acute arthritis commonly affecting the ankles and knees and less commonly the proximal interphalangeal joints, wrists, and elbows. The acute arthritis is symmetric and lasts for a few weeks. A less common chronic arthritis is destructive and may have dactylitis and telescoping digits. HOW: Sarcoidosis is a diagnosis of exclusion based on the clinical presentation and histology of biopsy tissue. | CHV2011_02:a disease that produces messes especially in the liver, lungs, skin, and lymph nodes | CSP2006:inflammatory disease characterized by small lumps or granulomas in lymph nodes and other organs. | MEDLINEPLUS_20151021:Sarcoidosis is a disease that leads to inflammation, usually in your lungs, skin, or lymph nodes. It starts as tiny, grain-like lumps, called granulomas. Sarcoidosis can affect any organ in your body.
No one is sure what causes sarcoidosis. It affects men and women of all ages and races. It occurs mostly in people ages 20 to 50, African Americans, especially women, and people of Northern European origin.
Many people have no symptoms. If you have symptoms, they may include
Tests to diagnose sarcoidosis include chest x-rays, lung function tests, and a biopsy. Not everyone who has the disease needs treatment. If you do, prednisone, a type of steroid, is the main treatment.
NIH: National Heart, Lung, and Blood Institute
| MSH2017_2016_08_12:An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands. | NCI2016_02D:An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin. Cardiac involvement is also possible. | NCI2016_NCI-GLOSS_1602D:An inflammatory disease marked by the formation of granulomas (small nodules of immune cells) in the lungs, lymph nodes, and other organs. Sarcoidosis may be acute and go away by itself, or it may be chronic and progressive. | NCI2016_NICHD_1602D:An inflammatory disorder characterized by the formation of non-necrotizing granulomas often associated with multi-nucleated giant cells within affected organs. Virtually all organs may be affected; however, it often affects the lungs, lymph nodes, liver, synovium, skin, heart, and uveal tract. ICD10CM_2017:D86|ICD10CM_2017:D86.9|ICD9CM_2014:135|MSH2017_2016_08_12:D012507|SNOMEDCT_US_2016_09_01:154425004|SNOMEDCT_US_2016_09_01:31541009 C0155691 Myocarditis; toxic Acute toxic disorder of myocardium | Toxic myocarditis | Toxic myocarditis (disorder) | myocarditis; toxic | toxic myocarditis | toxic myocarditis (diagnosis) | toxic; myocarditis ICD9CM_2014:422.93|SNOMEDCT_US_2016_09_01:31993003 C3549779 Menstrual abnormality Menstrual abnormalities | menstrual abnormality HPO2016_07_04:HP:0000140|OMIM2016_04_17:MTHU036810 C2751493 Cerebral amyloid angiopathy, gsn-related CEREBRAL AMYLOID ANGIOPATHY, GSN-RELATED | Cerebral Amyloid Angiopathy, Gsn-Related MSH2017_2016_08_12:C537459|OMIM2016_04_17:105120 C1869114 Weill-marchesani syndrome, autosomal recessive MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL | SPHEROPHAKIA-BRACHYMORPHIA SYNDROME | WEILL-MARCHESANI SYNDROME 1 | WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE | WMS1 | Weill Marchesani Syndrome, Autosomal Recessive | Weill-Marchesani Syndrome, Autosomal Recessive MSH2017_2016_08_12:The autosomal recessive form of Weill-Marchesani syndrome is associated with Fibrillin gene mutations. MSH2017_2016_08_12:D056846|OMIM2016_04_17:277600|OMIM2016_04_17:608990 C0238304 Chronic interstitial nephritis CIN - Chronic interstitial nephritis | CTIN - Chronic tubulo-interstitial nephritis | Chronic T.I.N. | Chronic T.I.N., NOS | Chronic interstitial nephritis | Chronic interstitial nephritis (disorder) | Chronic interstitial nephritis NOS | Chronic interstitial nephritis, NOS | Chronic tubulo-interstitial nephritis | Chronic tubulo-interstitial nephritis, unspecified | Chronic tubulointerstitial nephritis | Chronic tubulointerstitial nephritis, NOS | INTERSTITIAL NEPHRITIS CHRONIC | Interstitial nephritis chronic | NEPHRITIS INTERSTITIAL CHRONIC | NEPHRITIS, INTERSTITIAL, CHRONIC | Nephritis interstitial chronic | chronic interstitial nephritis | chronic tubulo-interstitial nephritis | chronic tubulo-interstitial nephritis (diagnosis) | tubulo-interstitial nephritis chronic HPO2016_07_04:Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. [HPO:probinson] HPO2016_07_04:HP:0004743|ICD10CM_2017:N11|ICD10CM_2017:N11.9|OMIM2016_04_17:MTHU005558|SNOMEDCT_US_2016_09_01:60926001 C0154354 Paranoid type schizophrenia, subchronic Paranoid type schizophrenia, subchronic | Paranoid type schizophrenia, subchronic state ICD9CM_2014:295.31 C0007775 Cerebral atherosclerosis ATHEROSCLEROTIC CEREBROVASCULAR DISEASE | Atheroscleroses, Cerebral | Atherosclerosis cerebral | Atherosclerosis, Cerebral | CEREBRAL ATHEROSCLEROSIS | Cerebral Atheroscleroses | Cerebral Atherosclerosis | Cerebral atherosclerosis | Cerebral atherosclerosis (disorder) | Cerebral vascular atherosclerosis | cerebral atherosclerosis | cerebral atherosclerosis (diagnosis) | disease (or disorder); cerebrovascular, arteriosclerotic ICD10CM_2017:I67.2|ICD9CM_2014:437.0|MSH2017_2016_08_12:D002537|SNOMEDCT_US_2016_09_01:195220007|SNOMEDCT_US_2016_09_01:266258005|SNOMEDCT_US_2016_09_01:55382008 C0033700 Infection proteus Infection, Proteus | Infections, Proteus | Proteus | Proteus Infection | Proteus Infections | Proteus Infections [Disease/Finding] | Proteus infection | Proteus infection (disorder) | Proteus infection NOS | Proteus infection NOS (disorder) | Proteus infections | Proteus; infection | infection proteus | infection; Proteus | proteus infection | proteus infections MSH2017_2016_08_12:Infections with bacteria of the genus PROTEUS. MSH2017_2016_08_12:D011512|SNOMEDCT_US_2016_09_01:186437007|SNOMEDCT_US_2016_09_01:186438002 C0085388 Intracranial tuberculoma Intracranial Tuberculoma | Intracranial Tuberculomas | Tuberculoma of brain | Tuberculoma of brain (disorder) | Tuberculoma of brain (finding) | Tuberculoma of brain, unspecified | Tuberculoma of brain, unspecified examination | Tuberculoma, Intracranial | Tuberculoma, Intracranial [Disease/Finding] | Tuberculomas, Intracranial | brain of tuberculoma | brain tuberculoma | intracranial tuberculoma | intracranial tuberculoma (diagnosis) | tuberculoma of brain MSH2017_2016_08_12:A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with SEIZURES, focal neurologic deficits, and INTRACRANIAL HYPERTENSION. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as OPPORTUNISTIC INFECTIONS, but also occur in immunocompetent individuals. ICD9CM_2014:013.2|ICD9CM_2014:013.20|MSH2017_2016_08_12:D016862|SNOMEDCT_US_2016_09_01:40769007|SNOMEDCT_US_2016_09_01:416265003 C1305740 Overbite Bite, Deep | Bites, Deep | Brachygnathia | Brachygnathism | Brachygnathism (disorder) | Deep Bite | Deep Bites | Deep bite | Deep-Bite | Deep-Bites | Increased overlap of upper and lower incisors | Mandibular distoclusion | OB - Overbite | Overbite | Overbite (observable entity) | Overbite [Disease/Finding] | Overbite unspecified | Overbite unspecified (disorder) | Overbites | Overshot jaw | Parrot mouth | Receding jaw | bird face | brachygnathia | overbite | overbites | overshot jaw HPO2016_07_04:Maxillary teeth cover the mandibular teeth when biting to an increased degree. [HPO:ibailleulforestier] | MSH2017_2016_08_12:A malocclusion in which maxillary incisor and canine teeth project over the mandibular teeth excessively. The overlap is measured perpendicular to the occlusal plane and is also called vertical overlap. When the overlap is measured parallel to the occlusal plane it is referred to as overjet. HPO2016_07_04:HP:0011094|MSH2017_2016_08_12:D057887|OMIM2016_04_17:MTHU024335|SNOMEDCT_US_2016_09_01:155636005|SNOMEDCT_US_2016_09_01:196396004|SNOMEDCT_US_2016_09_01:196402007|SNOMEDCT_US_2016_09_01:251293001|SNOMEDCT_US_2016_09_01:266487009|SNOMEDCT_US_2016_09_01:63783001 C1862693 Pseudoepiphyses of second metacarpal Extra bone on end of second long bone of hand | Pseudoepiphyses of second metacarpal HPO2016_07_04:HP:0006179|OMIM2016_04_17:MTHU019497 C4012146 Desbuquois dysplasia 1 DBQD1 | DESBUQUOIS DYSPLASIA 1 OMIM2016_04_17:251450|OMIM2016_04_17:613165 C0868910 Oligospermia Laboratory finding of Oligozoospermia | Oligospermia | Oligozoospermia | Oligozoospermia (disorder) | Oligozoospermia (finding) | oligospermia | oligozoospermia SNOMEDCT_US_2016_09_01:155926004|SNOMEDCT_US_2016_09_01:88311004 C2011252 Laryngeal giant cell carcinoma Laryngeal Anaplastic Carcinoma | Laryngeal Giant Cell Carcinoma | giant cell carcinoma of larynx | giant cell carcinoma of larynx (diagnosis) NCI2016_02D:A rare undifferentiated carcinoma that arises from the larynx. It is characterized by the presence of multiple bizarre multinucleated giant cells. The prognosis is poor. C0265215 Meckel-gruber syndrome Dysencephalia splanchnocystica | Meckel syndrome | Meckel syndrome (diagnosis) | Meckel-Gruber | Meckel-Gruber Syndrome | Meckel-Gruber syndrome | Meckel-Gruber syndrome (disorder) | dysencephalia splanchnocystica | meckel gruber syndrome | meckel-gruber syndrome NCI2016_02D:A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations. ICD10CM_2017:Q61.9|SNOMEDCT_US_2016_09_01:29076005 C3892050 Deafness, autosomal recessive 102 DEAFNESS, AUTOSOMAL RECESSIVE 102 | DFNB102 OMIM2016_04_17:615974 C1860335 Axillary freckling Axillary freckling | axillary freckles | axillary freckles (physical finding) HPO2016_07_04:The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. [pmid:12186179] HPO2016_07_04:HP:0000997|OMIM2016_04_17:MTHU014990 C1834567 Myoglobinuria, autosomal dominant MYOGLOBINURIA, AUTOSOMAL DOMINANT | Myoglobinuria, Autosomal Dominant MSH2017_2016_08_12:C563546|OMIM2016_04_17:160010 C1857455 Unusual hairline with hair growth on temples extending to lateral eyebrow Extension of hair growth on temples to lateral eyebrow | Unusual hairline with hair growth on temples extending to lateral eyebrow HPO2016_07_04:A pattern of hair growth in which there is hair exnteding from the temples to the lateral eyebrows. [HPO:probinson] HPO2016_07_04:HP:0005325|OMIM2016_04_17:MTHU013624 C0427068 Monoparesis - leg Leg weakness | Monoparesis - leg | Monoparesis - leg (disorder) | Monoparesis - leg (finding) | Weakness of leg | Weakness;leg | leg weakness | legs weakness | monoparesis - leg | weakness in leg | weakness in leg (symptom) | weakness leg HPO2016_07_04:HP:0007340|SNOMEDCT_US_2016_09_01:162238008|SNOMEDCT_US_2016_09_01:249945007 C0035012 Reiter syndrome ARTHRITIS URETHRITICA | ARTHRITIS, IDIOPATHIC BLENNORRHEAL | Disease, Reiter | Disease, Reiter's | Fiessinger Leroy Reiter syndrome | Fiessinger-Leroy-Reiter syndrome | INFECTIOUS UROARTHRITIS | REITER SYNDROME | REITER'S DISEASE | REITER'S SYNDROME | REITERS DISEASE | REITERS SYNDROME | Reiter | Reiter Disease | Reiter Syndrome | Reiter disease | Reiter syndrome | Reiter's Disease | Reiter's Syndrome | Reiter's Syndrome or Reactive Arthritis | Reiter's disease | Reiter's disease (disorder) | Reiter's disease, site unspecified | Reiter's disease, unspecified site | Reiter's or Reactive arthritis | Reiter's syndrome | Reiter's syndrome (diagnosis) | Reiter's syndrome with arthropathy | Reiter's syndrome with arthropathy (diagnosis) | Reiter; triad | Reiters Disease | Reiters disease | Reiters syndrome | Syndrome, Reiter | URETHRO-OCULO-ARTICULAR SYNDROME | Urethrooculoarticular syndrome | arthritis; urethritica | disease reiters | reiter disease | reiter syndrome | reiter's disease | reiter's syndrome | reiters disease | reiters syndrome | syndrome reiter | syndrome reiter's | syndrome; urethro-oculo-articular | triad; Reiter | urethritica; arthritis | urethro-oculo-articular; syndrome | uroarthritis; infectious CSP2006:triad of nongonococcal urethritis followed by conjunctivitis and arthritis. | MSH2017_2016_08_12:Historically characterized by a triad of inflammation involving the eye (CONJUNCTIVITIS), the bone (POST-INFECTIOUS ARTHRITIS), and the urethra (URETHRITIS), it is now thought to be nearly synonymous with reactive arthritis. | NCI2016_02D:A rare, reactive inflammatory disorder seen following bacterial infection. It predominantly affects males aged 20-40. Individuals with HLA-B27 antigen are estimated to have a 50 % increased risk. The disorder is characterized by arthritis, conjunctivitis, uveitis, iritis and ulceration of the oral cavity, genitals and volar surfaces of the hands and feet. The clinical course is self-limited with resolution of clinical disease usually within six months of onset. ICD10CM_2017:M02.3|ICD10CM_2017:M02.30|ICD9CM_2014:099.3|MSH2017_2016_08_12:D016918|SNOMEDCT_US_2016_09_01:154389006|SNOMEDCT_US_2016_09_01:154390002|SNOMEDCT_US_2016_09_01:266212009|SNOMEDCT_US_2016_09_01:67224007 C0278103 Fear of coitus Coitophobia | Cypridophobia | Fear of coitus | Fear of coitus (finding) | Fear of sexual intercourse SNOMEDCT_US_2016_09_01:81147004 C0423224 Sunken eyes Deep set eye | Deep set eyes | Deep-set eyes | Deeply set eye | Eye sunken | Eyes sunken | Ocular depression | SUNKEN EYES | Sunken eye | Sunken eyes | Sunken eyes (finding) | deep set eyes | deep set eyes (physical finding) | eyes sunken | sunken eye | sunken eyes HPO2016_07_04:An eye that is more deeply recessed into the plane of the face than is typical. [pmid:19125427] HPO2016_07_04:HP:0000490|OMIM2016_04_17:MTHU002677|OMIM2016_04_17:MTHU014964|OMIM2016_04_17:MTHU034405|SNOMEDCT_US_2016_09_01:246923005 C0349667 Sarcoma of breast Breast Sarcoma | Breast sarcoma | Sarcoma of Breast | Sarcoma of breast | Sarcoma of breast (disorder) | Sarcoma of the Breast | breast sarcoma | breast sarcomas | sarcoma breast | sarcoma of breast | sarcoma of breast (diagnosis) NCI2016_02D:A malignant soft tissue neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma. SNOMEDCT_US_2016_09_01:278050001 C1862163 Brachydactyly ballard type BRACHYDACTYLY, BALLARD TYPE | BRACHYDACTYLY, COMBINED B AND E TYPES | Brachydactyly Ballard type | Brachydactyly types B and E combined | Brachydactyly, Ballard Type | Brachydactyly, combined B and E types | PITT-WILLIAMS BRACHYDACTYLY | Pitt Williams brachydactyly | Pitt-Williams Brachydactyly MSH2017_2016_08_12:C537094|OMIM2016_04_17:112440 C3897751 Recurrent childhood gliomatosis cerebri Recurrent Childhood Gliomatosis Cerebri NCI2016_02D:The reemergence of gliomatosis cerebri in childhood after a period of remission. C2930844 Hypopituitarism and septooptic 'dysplasia' Hypopituitarism and septooptic 'dysplasia' MSH2017_2016_08_12:C531815 C0795829 8q duplication syndrome 8q duplication syndrome | 8q+ syndrome | Chromosome 8, trisomy 8q | Duplication 8q | Trisomy 8q | chromosome 8q duplication syndrome | chromosome 8q trisomy | dup(8q) syndrome | duplication 8q syndrome | partial trisomy 8q | trisomy 8q JABL99:Duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, mental deficiency, prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips, and skeletal defects. The phenotype varies in relation to the type of duplication. MSH2017_2016_08_12:C538020 C0152107 Dressler syndrome DRESSLER SYNDROME | Dressler | Dressler's syndrome | Dressler's syndrome (diagnosis) | Dresslers syndrome | Myocardial postinfarction syndrome | POSTMYOCARDIAL INFARCTION SYNDROME | Post myocardial infarction syndrome | Post-myocardial infarction syndrome | Postmyocardial infarct syndrom | Postmyocardial infarction pericarditis | Postmyocardial infarction syndrome | Postmyocardial infarction syndrome (disorder) | dressler syndrome | dressler's syndrome | dresslers syndrome | postmyocardial infarct syndrom | postmyocardial infarction; syndrome | syndrome; postmyocardial infarction ICD10CM_2017:I24.1|ICD9CM_2014:411.0|SNOMEDCT_US_2016_09_01:66189004 C3537179 Non-venereal endemic syphilis Bejel | Endemic syphilis | Njovera | Non-venereal endemic syphilis | Non-venereal endemic syphilis (disorder) | Non-venereal endemic syphilis (disorder) [Ambiguous] | Nonvenereal endemic syphilis | Nonvenereal syphilis | SYPHILIS, ENDEMIC | Treponarid | endemic; syphilitic | nonvenereal syphilis | nonvenereal syphilis (diagnosis) | nonvenereal; syphilitic | syphilis nonvenereal | syphilis; endemic | syphilis; nonvenereal ICD10CM_2017:A65|ICD9CM_2014:104.0|SNOMEDCT_US_2016_09_01:271426000|SNOMEDCT_US_2016_09_01:49487001 C0162838 Keratoderma palmoplantar, punctate type 2 Keratoderma Palmoplantar, Punctate Type 2 | POROK2 | POROKERATOSIS 2, PALMAR, PLANTAR, AND DISSEMINATED TYPE | POROKERATOSIS PALMARIS ET PLANTARIS DISSEMINATA | POROKERATOSIS PLANTARIS PALMARIS ET DISSEMINATA | POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED | POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED, 1 | PPPD | PPPD1 | Palmoplantar Porokeratosis | Palmoplantar porokeratosis | Porokeratosis Palmaris et Plantaris Disseminata | Porokeratosis Plantaris Palmaris et Disseminata | Porokeratosis Plantaris, Palmaris, Et Disseminata | Porokeratosis of Mantoux | Porokeratosis of Mantoux (disorder) | Porokeratosis plantaris palmaris et disseminata | Porokeratosis plantaris palmaris et disseminata (disorder) | Porokeratosis, Palmar, Plantar, And Disseminated 1 | Porokeratosis, Palmoplantar | Type 2 Punctate PPK | porokeratosis palmaris et plantaris disseminata | porokeratosis palmaris et plantaris disseminata (diagnosis) SNOMEDCT_US_2016_09_01:A rare form of porokeratosis occurring mainly in adolescence and characterised by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalised. The prevalence is unknown but it is one of the rarest forms of porokeratosis. The disease is more frequently seen in males. The exact aetiology is unknown. A possible locus for PPPD has been found on chromosome 12q24.1-24.2. Usually follows a dominant (autosomal or X-linked) pattern of inheritance. | SNOMEDCT_US_2016_09_01:A rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized. The prevalence is unknown but it is one of the rarest forms of porokeratosis. The disease is more frequently seen in males. The exact etiology is unknown. A possible locus for PPPD has been found on chromosome 12q24.1-24.2. Usually follows a dominant (autosomal or X-linked) pattern of inheritance. MSH2017_2016_08_12:D017499|OMIM2016_04_17:175850|SNOMEDCT_US_2016_09_01:111031005|SNOMEDCT_US_2016_09_01:718218005 C4021454 Triangular epiphysis of the proximal phalanx of the 2nd finger Triangular end part of innermost long bone of index finger | Triangular epiphysis of proximal index finger phalanx | Triangular epiphysis of the proximal phalanx of the 2nd finger HPO2016_07_04:HP:0009534 C1866552 Paragangliomas 2 (disorder) GLOMUS TUMORS, FAMILIAL, 2 | Glomus Tumors, Familial, 2 | PARAGANGLIOMAS 2 | PARAGANGLIOMAS 2 (disorder) | PGL2 | Paragangliomas 2 MSH2017_2016_08_12:C566646|OMIM2016_04_17:601650|OMIM2016_04_17:613019 C1851400 Facial hypertrichosis FACIAL HYPERTRICHOSIS | Facial Hypertrichosis | Facial hypertrichosis | Increased facial hair growth HPO2016_07_04:HP:0002219|MSH2017_2016_08_12:C565029|OMIM2016_04_17:134000|OMIM2016_04_17:MTHU006629 C1290671 Abnormal jaw opening Abnormal jaw opening | Abnormal jaw opening (disorder) SNOMEDCT_US_2016_09_01:109638009 C0346319 Cranial nerve i neoplasms Cranial Nerve I Neoplasms | First Cranial Nerve Neoplasm | First Cranial Nerve Neoplasms | First Cranial Nerve Tumor | Neoplasm of First Cranial Nerve | Neoplasm of Olfactory Nerve | Neoplasm of olfactory nerve | Neoplasm of olfactory nerve (disorder) | Neoplasm of the First Cranial Nerve | Neoplasm of the Olfactory Nerve | Neoplasms, Cranial Nerve I | Neoplasms, Olfactory Nerve | Olfactory Nerve Neoplasm | Olfactory Nerve Neoplasms | Olfactory Nerve Tumor | Olfactory Neural Neoplasm | Olfactory Neural Tumor | Tumor of First Cranial Nerve | Tumor of Olfactory Nerve | Tumor of olfactory tract | Tumor of the First Cranial Nerve | Tumor of the Olfactory Nerve | Tumour of olfactory tract | neoplasm of first cranial nerve | neoplasm of first cranial nerve (diagnosis) NCI2016_02D:Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell. SNOMEDCT_US_2016_09_01:126967000 C0267154 Gastritis eosinophilic Eosinophilic Gastritis | Eosinophilic gastritis | Eosinophilic gastritis (disorder) | Eosinophilic gastritis [Ambiguous] | eosinophilic gastritis | eosinophilic gastritis (diagnosis) | eosinophilic; gastritis | gastritis eosinophilic | gastritis; eosinophilic ICD9CM_2014:535.7|MSH2017_2016_08_12:C535952|SNOMEDCT_US_2016_09_01:196738004|SNOMEDCT_US_2016_09_01:66329006 C1861708 Calcaneal epiphyseal stippling Calcaneal epiphyseal stippling HPO2016_07_04:The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus. [HPO:probinson] HPO2016_07_04:HP:0004695|OMIM2016_04_17:MTHU019022 C0022408 Arthropathy ARTHROPATHY | ARTHROPATHY (NOS) | ARTHROPATHY, NOS | ARTHROSIS | Arthropathies | Arthropathies NOS | Arthropathies NOS (disorder) | Arthropathy | Arthropathy (NOS) | Arthropathy (disorder) | Arthropathy NOS | Arthropathy NOS (disorder) | Arthropathy NOS, of unspecified site | Arthropathy NOS, of unspecified site (disorder) | Arthropathy NOS-site unspecif. | Arthropathy, NOS | Arthropathy, unspecified | Arthropathy, unspecified, site unspecified | Arthroses | Arthrosis | Arthrosis NOS | Arthrosis, NOS | Arthrosis, unspecified | Articular disease | DISEASES OF THE JOINTS | DISORDER JOINT | Disease of joint | Diseases of Joints | Disorder joint | Disorder of joint | Disorder of joint, NOS | Disorder, Joint | Dysfunction;joint | JOINT DISORDER | JOINT DYSFUNCTION | Joint Disease | Joint Diseases | Joint Diseases [Disease/Finding] | Joint Disorder | Joint Disorders | Joint disease | Joint disease, NOS | Joint disord.NOS-site unspecif | Joint disorder | Joint disorder NOS | Joint disorder NOS, of unspecified site | Joint disorder NOS, of unspecified site (disorder) | Joint disorder, unspecified | Joint disorders | Joint disorders NOS | Joint disorders NOS (disorder) | Joint dysfunction | Joints--Diseases | Unspecified arthropathy | Unspecified disorder of joint | Unspecified disorder of joint, site unspecified | Unspecified joint disorder | Unspecified joint disorder, other site | Unspecified joint disorder, site unspecified | [X]Arthrosis | [X]Arthrosis (disorder) | arthropathic | arthropathies | arthropathy | arthropathy (diagnosis) | arthropathy nos | arthrosis | articular disease | disease (or disorder); joint | diseases of joints | diseases of the joints | joint disease | joint diseases | joint disorder | joint disorder (diagnosis) | joint disorders | joint dysfunction | joint; disorder | osteoarthrosis; joint CSP2006:condition in which there is a deviation from or interruption of the normal structure or function of the joints. | MEDLINEPLUS_20151021:A joint is where two or more bones come together, like the knee, hip, elbow, or shoulder. Joints can be damaged by many types of injuries or diseases, including
Treatment of joint problems depends on the cause. If you have a sports injury, treatment often begins with the RICE (Rest, Ice, Compression, and Elevation) method to relieve pain, reduce swelling, and speed healing. Other possible treatments include pain relievers, keeping the injured area from moving, rehabilitation, and sometimes surgery. For arthritis, injuries, or other diseases, you may need joint replacement surgery to remove the damaged joint and put in a new one.
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
| MSH2017_2016_08_12:Diseases involving the JOINTS. | NCI2016_02D:Any disorder of the joints. | NCI2016_NICHD_1602D:A disease or disorder that affects a joint. HPO2016_07_04:HP:0001367|HPO2016_07_04:HP:0003040|ICD10CM_2017:M12.9|ICD10CM_2017:M19.90|ICD10CM_2017:M25.9|ICD9CM_2014:716.9|ICD9CM_2014:716.90|ICD9CM_2014:719.9|ICD9CM_2014:719.90|MSH2017_2016_08_12:D007592|OMIM2016_04_17:MTHU012515|SNOMEDCT_US_2016_09_01:156508002|SNOMEDCT_US_2016_09_01:156514009|SNOMEDCT_US_2016_09_01:156616003|SNOMEDCT_US_2016_09_01:202059001|SNOMEDCT_US_2016_09_01:202061005|SNOMEDCT_US_2016_09_01:202073005|SNOMEDCT_US_2016_09_01:202634006|SNOMEDCT_US_2016_09_01:202635007|SNOMEDCT_US_2016_09_01:202645009|SNOMEDCT_US_2016_09_01:202647001|SNOMEDCT_US_2016_09_01:203747002|SNOMEDCT_US_2016_09_01:267904003|SNOMEDCT_US_2016_09_01:268051001|SNOMEDCT_US_2016_09_01:268056006|SNOMEDCT_US_2016_09_01:268070006|SNOMEDCT_US_2016_09_01:399269003|SNOMEDCT_US_2016_09_01:8316001 C0038437 Female incontinence stress Female Stress Incontinence | Female stress incontinence | Female urinary stress incontinence | Female urinary stress incontinence (finding) | Stress incontinence - female | Stress incontinence - female (finding) | Stress incontinence, female | female incontinence stress | female stress incontinence | female stress incontinence (diagnosis) | stress incontinence female NCI2016_02D:The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause. ICD9CM_2014:625.6|SNOMEDCT_US_2016_09_01:156028007|SNOMEDCT_US_2016_09_01:198408003|SNOMEDCT_US_2016_09_01:266668007|SNOMEDCT_US_2016_09_01:60241006 C0152491 Salmonella osteomyelitis Osteomyelitis salmonella | Salmonella osteomyelitis | Salmonella osteomyelitis (diagnosis) | Salmonella osteomyelitis (disorder) HPO2016_07_04:HP:0005661|ICD10CM_2017:A02.24|ICD9CM_2014:003.24|SNOMEDCT_US_2016_09_01:186099000|SNOMEDCT_US_2016_09_01:6803002 C1850555 De la chapelle dysplasia Atelosteogenesis De La Chapelle Type | DE LA CHAPELLE DYSPLASIA | DLCD | De La Chapelle Dysplasia | McAlister Dysplasia MSH2017_2016_08_12:C535395|OMIM2016_04_17:256050|OMIM2016_04_17:606718 C0018979 Hemianopsia HEMIANOPIA | HEMIANOPIA HEMIANOPSIA | HEMIANOPSIA | Hemianopia | Hemianopia (finding) | Hemianopia NOS | Hemianopia hemianopsia | Hemianopia, NOS | Hemianopias | Hemianopsia | Hemianopsia [Disease/Finding] | Hemianopsia, NOS | Hemianopsias | hemianopia | hemianopsia | hemianopsia (physical finding) | visual fields hemianopsia HPO2016_07_04:Partial or complete loss of vision in one half of the visual field of one or both eyes. [HPO:probinson] | MSH2017_2016_08_12:Partial or complete loss of vision in one half of the visual field(s) of one or both eyes. Subtypes include altitudinal hemianopsia, characterized by a visual defect above or below the horizontal meridian of the visual field. Homonymous hemianopsia refers to a visual defect that affects both eyes equally, and occurs either to the left or right of the midline of the visual field. Binasal hemianopsia consists of loss of vision in the nasal hemifields of both eyes. Bitemporal hemianopsia is the bilateral loss of vision in the temporal fields. Quadrantanopsia refers to loss of vision in one quarter of the visual field in one or both eyes. | NCI2016_02D:Lack of sight in half of the normal field of vision. | NCI2016_NICHD_1602D:Lack of sight in half of the normal field of vision. HPO2016_07_04:HP:0012377|MSH2017_2016_08_12:D006423|OMIM2016_04_17:MTHU029007|SNOMEDCT_US_2016_09_01:155142005|SNOMEDCT_US_2016_09_01:267725007|SNOMEDCT_US_2016_09_01:77674003 C1419325 Opn1lw gene COD5 | OPN1LW | OPN1LW gene | OPSIN 1, LONG-WAVE-SENSITIVE | RCP | RED CONE PIGMENT | cone dystrophy 5 (X-linked) | opsin 1 (cone pigments), long-wave-sensitive OMIM2016_04_17:300822 C0406810 Carney complex Atrial Myxoma with Lentigines | Atrial myxoma with lentigines | Atrial myxoma with lentigines (diagnosis) | Atrial myxoma with lentigines (disorder) | CARNEY COMPLEX | CNC | Carney Complex | Carney Complex [Disease/Finding] | Carney Myxoma Endocrine Complex | Carney Myxoma-Endocrine Complex | Carney Syndrome | Carney complex | Carney complex (diagnosis) | Carney syndrome | Carney's Syndrome | Carney's syndrome | Complex, Carney | Complex, Carney Myxoma-Endocrine | LAMB | LAMB - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome | LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue naevus syndrome | LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome | LAMB Syndrome | LAMB Syndromes | Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome | Lentigines, atrial myxoma, mucocutaneous myoma, blue naevus syndrome | Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome | Myxoma, Spotty Pigmentation, and Endocrine Overactivity | Myxoma-Endocrine Complex, Carney | NAME - Naevi, atrial myxoma, skin myxoma, ephelides syndrome | NAME - Nevi, atrial myxoma, skin myxoma, ephelides syndrome | NAME Syndrome | NAME Syndromes | Naevi, atrial myxoma, skin myxoma, ephelides syndrome | Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome | Nevi, atrial myxoma, skin myxoma, ephelides syndrome | Syndrome, Carney | Syndrome, LAMB | Syndromes, LAMB MSH2017_2016_08_12:Autosomal dominant syndrome characterized by cardiac and cutaneous MYXOMAS; LENTIGINOSIS (spotty pigmentation of the skin), and endocrinopathy and its associated endocrine tumors. The cardiac myxomas may lead to SUDDEN CARDIAC DEATH and other complications in Carney complex patients. The gene coding for the PRKAR1A protein is one of the causative genetic loci (type 1). A second locus is at chromosome 2p16 (type 2). | NCI2016_02D:An autosomal dominant disorder most often caused by mutations in the PRKAR1A gene. It is characterized by the presence of myxomas in the heart and skin, skin hyperpigmentation, increased endocrine activity and schwannomas. | NCI2016_NCI-GLOSS_1602D:A rare, inherited disorder marked by dark spots on the skin and tumors in the heart, endocrine glands, skin, and nerves. There are two types of Carney complex, which are caused by mutations (changes) in different genes. MSH2017_2016_08_12:D056733|OMIM2016_04_17:188830|SNOMEDCT_US_2016_09_01:239132009 C1719788 Episodic ataxia type 1 AEM | AEMK | ATAXIA, EPISODIC, WITH MYOKYMIA | Ataxia, Episodic, with Myokymia | EA1 | EAM | EPISODIC ATAXIA WITH MYOKYMIA | EPISODIC ATAXIA, TYPE 1 | Episodic Ataxia with Myokymia | Episodic Ataxia, Type 1 | Episodic ataxia type 1 | Episodic ataxia type 1 (EA1) | Episodic ataxia type 1 (disorder) | MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA | MYOKYMIA WITH PERIODIC ATAXIA | Myokymia 1 With Or Without Hypomagnesemia | Myokymia with Periodic Ataxia | PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY | Paroxysmal Ataxia with Neuromyotonia, Hereditary MSH2017_2016_08_12:C563278|OMIM2016_04_17:160120|OMIM2016_04_17:176260|SNOMEDCT_US_2016_09_01:421182009 C4022869 Reduced catalase activity Reduced catalase activity HPO2016_07_04:An abnormally decreased amount of catalase activity. [HPO:probinson] HPO2016_07_04:HP:0012517 C0151818 Opisthotonus OPISTHOTONOS | Opisthotonos | Opisthotonus | Opisthotonus (finding) | opisthotonos | opisthotonus HPO2016_07_04:HP:0002179|OMIM2016_04_17:MTHU002588|OMIM2016_04_17:MTHU008396|SNOMEDCT_US_2016_09_01:8652009 C2931376 Hapnes boman skeie syndrome Hapnes Boman Skeie syndrome MSH2017_2016_08_12:C536960 C0158695 Embryonic cyst of cervix, vagina and external female genitalia nos Embr.cyst cerv/vag/ext.fem.gen | Embr.cyst cerv/vag/ext.gen.NOS | Embryonic cyst cervix/vagina/external female genitalia NOS | Embryonic cyst of cervix, vagina and external female genitalia | Embryonic cyst of cervix, vagina and external female genitalia (disorder) | Embryonic cyst of cervix, vagina and external female genitalia NOS | Embryonic cyst of cervix, vagina and external female genitalia NOS (disorder) | Embryonic cyst of cervix, vagina, and external female genitalia | Embryonic cyst of cervix/vagina/external female genitalia ICD9CM_2014:752.41|SNOMEDCT_US_2016_09_01:204855007|SNOMEDCT_US_2016_09_01:204860006 C0878684 Short syndrome LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE | Lipodystrophy, Partial, With Rieger Anomaly, And Short Stature | SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGER ANOMALY, AND TEETHING DELAY | SHORT SYNDROME | SHORT syndrome | short syndrome | syndrome short MSH2017_2016_08_12:C537327|OMIM2016_04_17:171833|OMIM2016_04_17:269880 C1859115 Prominent interphalangeal joints Prominent hinge joints | Prominent interphalangeal joints HPO2016_07_04:HP:0006237|OMIM2016_04_17:MTHU013848 C0455942 Clubbed nail; congenital Congenital clubbed nail | Congenital clubbing | Congenital clubbing (disorder) | clubbed nail; congenital SNOMEDCT_US_2016_09_01:276449002 C0010474 Ulcer, curlings Curling | Curling Ulcer | Curling ulcers | Curling's Ulcer | Curling's ulcer | Curling's ulcers | Curling's ulcers (disorder) | Curlings Ulcer | ULCER, CURLINGS | ULCER, GASTROINTESTINAL, FOLLOWING BURN | Ulcer, Curling | Ulcer, Curling's | curling ulcer | curling ulcers | curling's ulcer | curlings ulcer | curlings ulcers MSH2017_2016_08_12:Acute stress DUODENAL ULCER, usually observed in patients with extensive third-degree burns. MSH2017_2016_08_12:D004381|SNOMEDCT_US_2016_09_01:39755000 C4025674 Flared femoral metaphysis Flared femoral metaphysis | Flared metaphysis of thigh bone HPO2016_07_04:HP:0002834 C1333758 Gallbladder signet ring cell carcinoma Gallbladder Signet Ring Cell Carcinoma | Signet Ring Cell Carcinoma of Gallbladder | Signet Ring Cell Carcinoma of the Gallbladder | signet ring cell carcinoma of gallbladder | signet ring cell carcinoma of gallbladder (diagnosis) NCI2016_02D:An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells. C0023529 Leukomalacia, periventricular Encephalomalacia, Periventricular | Encephalomalacias, Periventricular | Leucomalacia, Periventricular | Leucomalacias, Periventricular | Leukoencephalopathy, periventricular | Leukomalacia, Periventricular | Leukomalacia, Periventricular [Disease/Finding] | Leukomalacias, Periventricular | PVL | PVL - Periventricular leucomalacia | PVL - Periventricular leukomalacia | Periventricular Encephalomalacia | Periventricular Encephalomalacias | Periventricular Leucomalacia | Periventricular Leucomalacias | Periventricular Leukomalacia | Periventricular Leukomalacias | Periventricular leucoencephalopathy | Periventricular leucomalacia | Periventricular leucomalacia (disorder) | Periventricular leukoencephalopathy | Periventricular leukomalacia | Periventricular leukomalacia (disorder) | White matter necrosis | leukomalacia periventricular | periventricular leucomalacia | periventricular leukomalacia | periventricular leukomalacia (diagnosis) | pvl leukomalacia periventricular MSH2017_2016_08_12:Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1) | NCI2016_02D:Necrosis and softening of the white matter around the ventricles in the brain. It is usually seen in preterm infants and caused by lack of blood flow and oxygenation in the periventricular brain parenchyma. | NCI2016_NICHD_1602D:A form of cerebral white matter injury usually seen in preterm infants that is characterized by necrotic degeneration or gliosis of white matter adjacent to the cerebral ventricles, that may evolve into focal cysts. HPO2016_07_04:HP:0006970|ICD10CM_2017:P91.2|ICD9CM_2014:779.7|MSH2017_2016_08_12:D007969|OMIM2016_04_17:MTHU033878|OMIM2016_04_17:MTHU037926|OMIM2016_04_17:MTHU038753|SNOMEDCT_US_2016_09_01:230769007 C0263536 Hypertrophy of nail Claw hypertrophy | Hypertrophy of claw | Hypertrophy of nail | Hypertrophy of nail (disorder) | Nail hypertrophy | Nail overgrowth | OX - Onychauxic | Onychauxis | Onychauxis (disorder) | hypertrophy nails | hypertrophy of nail | hypertrophy of nail (diagnosis) | hypertrophy of nails | hypertrophy; nail | nail hypertrophy | nail; hypertrophy | nails onychauxis | onychauxis | onychauxis (diagnosis) | onychauxis (physical finding) | onychauxis was noted HPO2016_07_04:Thickened nails without deformity. [HPO:probinson] HPO2016_07_04:HP:0012542|OMIM2016_04_17:MTHU010112|SNOMEDCT_US_2016_09_01:156404002|SNOMEDCT_US_2016_09_01:201116005|SNOMEDCT_US_2016_09_01:201122001|SNOMEDCT_US_2016_09_01:30654002|SNOMEDCT_US_2016_09_01:34226009 C0024796 Marfan syndrome MARFAN SYNDROME | MARFAN SYNDROME, TYPE I | MARFAN'S SYNDROME | MFS | MFS1 | Marfan | Marfan Syndrome | Marfan Syndrome [Disease/Finding] | Marfan Syndrome, Type I | Marfan syndrome | Marfan's Syndrome | Marfan's disease | Marfan's syndrome | Marfan's syndrome (diagnosis) | Marfan's syndrome (disorder) | Marfan's syndrome, unspecified | Marfans Syndrome | Marfans syndrome | Syndrome, Marfan | Syndrome, Marfan's | marfan syndrome | marfan's disease | marfan's syndrome | marfans syndrome CHV2011_02:A hereditary disorder of connective tissue characterized by tall stature, elongated extremities, dilatation of the ascending aorta, and pigeon breast. | CSP2006:disorder of connective tissue characterized by tall stature, elongated extremities, subluxation of the lens, dilatation of the ascending aorta, and "pigeon breast"; inherited as an autosomal dominant trait. | MEDLINEPLUS_20151021:Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome.
Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs.
There is no single test to diagnose Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies.
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
| MSH2017_2016_08_12:An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue. | NCI2016_02D:A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. | NCI2016_NICHD_1602D:An autosomal-dominant genetic syndrome caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, pectus excavatum, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. ICD10CM_2017:Q87.4|ICD10CM_2017:Q87.40|ICD9CM_2014:759.82|MSH2017_2016_08_12:D008382|OMIM2016_04_17:134797|OMIM2016_04_17:154700|SNOMEDCT_US_2016_09_01:157024004|SNOMEDCT_US_2016_09_01:157033002|SNOMEDCT_US_2016_09_01:19346006|SNOMEDCT_US_2016_09_01:268359006 C0677776 Hereditary breast and ovarian cancer syndrome Familial Breast and Ovarian Cancer Syndrome | Familial Breast/Ovarian Cancer (BRCA1, BRCA2) | HBOC Syndrome | HBOC Syndromes | Hereditary Breast and Ovarian Cancer | Hereditary Breast and Ovarian Cancer Syndrome | Hereditary Breast and Ovarian Cancer Syndrome [Disease/Finding] | Hereditary Breast/Ovarian Cancer (BRCA1, BRCA2) | Hereditary breast and ovarian cancer syndrome | Hereditary breast and ovarian cancer syndrome (disorder) | Syndrome, HBOC | Syndromes, HBOC | familial breast-ovarian cancer syndrome | familial breast-ovarian cancer syndrome (diagnosis) | hereditary breast/ovarian cancer (BRCA1, BRCA2) MSH2017_2016_08_12:Autosomal dominant HEREDITARY CANCER SYNDROME in which a mutation most often in either BRCA1 or BRCA2 is associated with a significantly increased risk for breast and ovarian cancers. | NCI2016_02D:An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer. | SNOMEDCT_US_2016_09_01:Breast cancer is the most common cancer in women, accounting for 25% of all new cases of cancer. Most cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition. Autosomal dominant alterations in two genes, BRCA1 and BRCA2, are likely to account for most familial cases of early-onset breast and/or ovarian cancer and for 3-4% of all breast cancer. The lifetime risk of developing hereditary breast cancer and/or ovarian cancer can reach 80%. For a given mutation in the susceptibility gene, disease severity and age at onset show great variability within and between breast cancer families, suggesting the involvement of other genetic as well as non-genetic factors. MSH2017_2016_08_12:D061325|SNOMEDCT_US_2016_09_01:718220008 C0027443 Natal teeth Born with teeth | NATAL TEETH | Natal Teeth | Natal Tooth | Natal teeth | Natal tooth | Natal tooth (disorder) | Neonatal teeth | Neonatal tooth | Neonatal tooth (disorder) | TEETH PRESENT AT BIRTH | Teeth Present At Birth | Teeth present at birth | Teeth, Natal | Tooth, Natal | natal teeth | natal tooth | natal tooth (diagnosis) | neonatal teeth | neonatal tooth | neonatal tooth (diagnosis) | neonatal; teeth | teeth; neonatal HPO2016_07_04:Erupted tooth or teeth at birth. [pmid:19125428] | MSH2017_2016_08_12:Predeciduous teeth present at birth. They may be well formed and normal or may represent hornified epithelial structures without roots. They are found on the gingivae over the crest of the ridge and arise from accessory buds of the dental lamina ahead of the deciduous buds or from buds of the accessory dental lamina. (From Jablonski, Dictionary of Dentistry, 1992) HPO2016_07_04:HP:0000695|ICD10CM_2017:K00.6|MSH2017_2016_08_12:D009306|OMIM2016_04_17:187050|OMIM2016_04_17:MTHU004144|OMIM2016_04_17:MTHU005631|SNOMEDCT_US_2016_09_01:21995002|SNOMEDCT_US_2016_09_01:58748004 C1832279 Cold-induced hand cramps Cold-induced hand cramps HPO2016_07_04:HP:0003435|OMIM2016_04_17:MTHU005961 C1837273 Long-chain dicarboxylic aciduria Long-chain dicarboxylic aciduria HPO2016_07_04:HP:0008293|OMIM2016_04_17:MTHU001641 C0022361 Jaw cysts Cyst of jaw | Cyst of jaw (disorder) | Cyst of jaw NOS | Cyst of jaw NOS (disorder) | Cyst of jaw, NOS | Cyst, Jaw | Cysts, Jaw | Jaw Cyst | Jaw Cysts | Jaw Cysts [Disease/Finding] | Jaw cyst | Jaws--Cysts | cyst jaw | cyst jaws | cyst of jaw | cyst of jaw (diagnosis) | cyst; jaw | cysts jaw | jaw cyst | jaw cysts | jaw; cyst MSH2017_2016_08_12:Saccular lesions lined with epithelium and contained within pathologically formed cavities in the jaw; also nonepithelial cysts (pseudocysts) as they apply to the jaw, e.g., traumatic or solitary cyst, static bone cavity, and aneurysmal bone cyst. True jaw cysts are classified as odontogenic or nonodontogenic. ICD10CM_2017:M27.40|MSH2017_2016_08_12:D007570|SNOMEDCT_US_2016_09_01:196458004|SNOMEDCT_US_2016_09_01:43144004 C1275122 Familial multiple trichoepitheliomata BROOKE-FORDYCE TRICHOEPITHELIOMAS | Brooke-Fordyce Trichoepitheliomas | EAC | EPITHELIOMA ADENOIDES CYSTICUM OF BROOKE | EPITHELIOMA, HEREDITARY MULTIPLE BENIGN CYSTIC | Epithelioma adenoides cysticum of Brooke | Epithelioma, hereditary multiple benign cystic | Familial multiple trichoepitheliomata | Familial multiple trichoepitheliomata (disorder) | Hereditary Multiple Benign Cystic Epithelioma | MFT1 | Multiple Familial Trichoepithelioma | TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 | Trichoepithelioma multiple familial | Trichoepithelioma, Multiple Familial, 1 MSH2017_2016_08_12:C536611|OMIM2016_04_17:601606|OMIM2016_04_17:605018|SNOMEDCT_US_2016_09_01:403825008 C4020859 Pyramidal tract disease Pyramidal tract disease HPO2016_07_04:HP:0002062 C4014258 Immunodeficiency, common variable, 11 CVID11 | IL21 DEFICIENCY | IMMUNODEFICIENCY, COMMON VARIABLE, 11 OMIM2016_04_17:615767 C0752301 Parasomnia, rem sleep Parasomnia, REM Sleep | Parasomnias, REM Sleep | REM Sleep Parasomnia | REM Sleep Parasomnias | REM Sleep Parasomnias [Disease/Finding] | Rapid Eye Movement Sleep Parasomnias | Sleep, REM, Parasomnias MSH2017_2016_08_12:Abnormal behavioral or physiologic events that are associated with REM sleep, including REM SLEEP BEHAVIOR DISORDER. MSH2017_2016_08_12:D020923 C3151077 Aortic aneurysm, familial thoracic 7 AAT7 | AORTIC ANEURYSM, FAMILIAL THORACIC 7 | AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM OMIM2016_04_17:600922|OMIM2016_04_17:613780 C4021243 Abnormality of thalamus morphology Abnormal shape of thalamus | Abnormality of thalamus morphology | Abnormality of the thalamus HPO2016_07_04:An abnormality of the thalamus. [HPO:probinson] HPO2016_07_04:HP:0010663 C1290841 Acute disease of nervous system Acute disease of nervous system | Acute nervous system disorder | Acute nervous system disorder (disorder) SNOMEDCT_US_2016_09_01:127341005 C1332947 Anaplastic childhood astrocytoma of brain Anaplastic Childhood Astrocytoma of Brain | Anaplastic Childhood Astrocytoma of the Brain | Anaplastic Childhood Brain Astrocytoma | Anaplastic Pediatric Astrocytoma of Brain | Anaplastic Pediatric Astrocytoma of the Brain | Anaplastic Pediatric Brain Astrocytoma | Childhood Brain Anaplastic Astrocytoma | Grade III Childhood Astrocytic Neoplasm of Brain | Grade III Childhood Astrocytic Neoplasm of the Brain | Grade III Childhood Astrocytic Tumor of Brain | Grade III Childhood Astrocytic Tumor of the Brain | Grade III Childhood Astrocytoma of Brain | Grade III Childhood Astrocytoma of the Brain | Grade III Childhood Brain Astrocytic Neoplasm | Grade III Childhood Brain Astrocytic Tumor | Grade III Childhood Brain Astrocytoma | Grade III Pediatric Astrocytic Neoplasm of Brain | Grade III Pediatric Astrocytic Neoplasm of the Brain | Grade III Pediatric Astrocytic Tumor of Brain | Grade III Pediatric Astrocytic Tumor of the Brain | Grade III Pediatric Astrocytoma of Brain | Grade III Pediatric Astrocytoma of the Brain | Grade III Pediatric Brain Astrocytic Neoplasm | Grade III Pediatric Brain Astrocytic Tumor | Grade III Pediatric Brain Astrocytoma NCI2016_02D:An anaplastic astrocytoma that arises from the brain and occurs during childhood. C3665385 Gumma due to congenital syphilis Congenital syphilis with gumma | Congenital syphilis with gumma (diagnosis) | Congenital syphilis with gumma (disorder) | Congenital syphilitic gumma | Congenital syphilitic gumma (disorder) | Gumma due to congenital syphilis | congenital syphilitic gumma (diagnosis) | gumma; syphilitic, congenital | syphilis congenital with gumma | syphilis; gumma, congenital SNOMEDCT_US_2016_09_01:186841000|SNOMEDCT_US_2016_09_01:87318008 C1839320 Childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness CHOREOATHETOSIS WITH MENTAL RETARDATION, X-LINKED | Childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness | Choreoathetosis With Mental Retardation, X-Linked | Choreoathetosis with mental retardation X- linked | Progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness | SCHIMKE X-LINKED MENTAL RETARDATION SYNDROME | Schimke X-linked mental retardation syndrome MSH2017_2016_08_12:C536630|OMIM2016_04_17:312840 C0025958 Microcephaly MICROCEPHALY | Micrencephaly | Micrencephaly (disorder) | Microcephalic | Microcephalies | Microcephalus | Microcephalus (disorder) | Microcephalus NOS | Microcephalus NOS (disorder) | Microcephaly | Microcephaly (disorder) | Microcephaly [Disease/Finding] | Microencephaly | Nanocephaly | micrencephala | micrencephalon | micrencephaly | microcephali | microcephalic | microcephalies | microcephalus | microcephalus (diagnosis) | microcephaly | microcephaly (diagnosis) | microencephaly CSP2006:abnormal smallness of the brain. | MSH2017_2016_08_12:A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.) | NCI2016_02D:A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex. | PSY2004:Smallness of the head produced by incomplete development of the brain, often associated with below normal mental and cognitive development. ICD10CM_2017:Q02|ICD9CM_2014:742.1|MSH2017_2016_08_12:D008831|SNOMEDCT_US_2016_09_01:156893009|SNOMEDCT_US_2016_09_01:1829003|SNOMEDCT_US_2016_09_01:204030002|SNOMEDCT_US_2016_09_01:204031003 C0221244 Scalp seborrhea DANDRUFF | Dandruff | Dandruff [Disease/Finding] | Pityriasis capitis | Pityriasis capitis (disorder) | Pityriasis sicca | SCALP SEBORRHEA | Scurf | Seborrhea capitis | Seborrhea capitis (disorder) | Seborrhea capitis [dup] (disorder) | Seborrhea sicca | Seborrhea sicca (disorder) | Seborrheic dermatitis (scalp) | Seborrheic dermatitis capitis | Seborrheic dermatitis of scalp | Seborrheic dermatitis of scalp (disorder) | Seborrheic eczema of scalp | Seborrhoea capitis | Seborrhoea capitis (disorder) | Seborrhoea sicca | Seborrhoeic dermatitis capitis | Seborrhoeic dermatitis of scalp | Seborrhoeic dermatitis of scalp (disorder) | Seborrhoeic eczema of scalp | capitis; seborrhea | dandruff | pityriasis capitis | scalp seborrhea | seborrhea capitis | seborrhea capitis (diagnosis) | seborrhea; capitis | seborrhea; sicca | seborrheic dermatitis of scalp | seborrheic dermatitis of scalp (diagnosis) | sicca; seborrhea MSH2017_2016_08_12:Excessive shedding of dry scaly material from the scalp in humans. ICD10CM_2017:L21.0|ICD9CM_2014:690.11|MSH2017_2016_08_12:D063807|OMIM2016_04_17:MTHU019615|SNOMEDCT_US_2016_09_01:156327009|SNOMEDCT_US_2016_09_01:156329007|SNOMEDCT_US_2016_09_01:200763009|SNOMEDCT_US_2016_09_01:200764003|SNOMEDCT_US_2016_09_01:201177005|SNOMEDCT_US_2016_09_01:28431005|SNOMEDCT_US_2016_09_01:400201008|SNOMEDCT_US_2016_09_01:48596006|SNOMEDCT_US_2016_09_01:77592001 C0018193 Granuloma, foreign-body Foreign Body Granuloma | Foreign body granuloma | Foreign body granulomas | Foreign-Body Granuloma | Foreign-Body Granulomas | Granuloma -foreign body | Granuloma, Foreign Body | Granuloma, Foreign-Body | Granuloma, Foreign-Body [Disease/Finding] | Granulomas, Foreign-Body | body foreign granulomas | foreign body giant cell reaction | foreign body granuloma | foreign body; granuloma | giant cell reaction | granuloma foreign body | granuloma; foreign body MSH2017_2016_08_12:Histiocytic, inflammatory response to a foreign body. It consists of modified macrophages with multinucleated giant cells, in this case foreign-body giant cells (GIANT CELLS, FOREIGN-BODY), usually surrounded by lymphocytes. MSH2017_2016_08_12:D015745|OMIM2016_04_17:MTHU017857|SNOMEDCT_US_2016_09_01:156445005|SNOMEDCT_US_2016_09_01:156729009|SNOMEDCT_US_2016_09_01:267873009|SNOMEDCT_US_2016_09_01:268106003|SNOMEDCT_US_2016_09_01:37058002 C1859347 Abnormal subcutaneous fat tissue distribution Abnormal fat tissue distribution below the skin | Abnormal subcutaneous fat tissue distribution HPO2016_07_04:HP:0007552|OMIM2016_04_17:MTHU014068 C3151343 Spinocerebellar ataxia 32 SCA32 | SPINOCEREBELLAR ATAXIA 32 OMIM2016_04_17:613909 C0011876 Diabetic cataract Cataract - diabetic | Cataract diabetic | Diabetic cataract | Diabetic cataract (disorder) | cataract diabetic | cataract; diabetes (manifestation) | diabetes; cataract (manifestation) | diabetic cataract | diabetic cataract (diagnosis) CSP2006:rare, usually bilateral, opacity shaped like a snowflake, affecting the anterior and posterior cortices of young diabetics; sometimes it can be reversed when the blood glucose is brought under control, but in most cases it progresses rapidly to a mature cataract. ICD9CM_2014:366.41|SNOMEDCT_US_2016_09_01:154678005|SNOMEDCT_US_2016_09_01:155129005|SNOMEDCT_US_2016_09_01:267471001|SNOMEDCT_US_2016_09_01:267722005|SNOMEDCT_US_2016_09_01:43959009 C1832390 Van maldergem wetzburger verloes syndrome CEREBROFACIOARTICULAR SYNDROME | Cerebro-facio-articular syndrome | Cerebro-facio-articular syndrome of Van Maldergem | Cerebrofacioarticular syndrome | VAN MALDERGEM SYNDROME 1 | VMLDS1 | Van Maldergem Wetzburger Verloes syndrome | Van Maldergem syndrome MSH2017_2016_08_12:C536530|OMIM2016_04_17:601390|OMIM2016_04_17:603057 C0349621 Pineal area germ cell neoplasm Pineal Area Germ Cell Neoplasm | Pineal Area Germ Cell Tumor | Pineal Germ Cell Neoplasm | Pineal Germ Cell Tumor | Pineal Region Germ Cell Neoplasm | Pineal Region Germ Cell Tumor | Pineal germ cell tumor | Pineal germ cell tumor (diagnosis) | Pineal germ cell tumor (disorder) | Pineal germ cell tumour | neoplasm of endocrine gland pineal germ cell tumor NCI2016_02D:A germ cell tumor that arises in the pineal region. Representative examples include teratoma, germinoma, and choriocarcinoma. SNOMEDCT_US_2016_09_01:277508009 C1851347 Familial mediterranean fever, autosomal dominant FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | FMF autosomal dominant | FMF, AUTOSOMAL DOMINANT | Familial Mediterranean Fever, Autosomal Dominant | familial mediterranean fever autosomal dominant | familial mediterranean fever autosomal dominant (diagnosis) MSH2017_2016_08_12:C565021|OMIM2016_04_17:134610|OMIM2016_04_17:608107 C0221347 Acrocyanosis ACROCYANOSIS | Acrocyanosis | Acrocyanosis (disorder) | Acrocyanosis (finding) | CASSIRER SYNDROME | CROCQ DISEASE | Crocq's disease | acrocyanosis | acrocyanosis (diagnosis) NCI2016_02D:Persistent, symmetric, and painless blue discoloration of the extremities. It is the result of vasospasm in response to cold. The affected areas are cold and sweaty. HPO2016_07_04:HP:0001063|ICD10CM_2017:I73.89|OMIM2016_04_17:MTHU037393|SNOMEDCT_US_2016_09_01:155433006|SNOMEDCT_US_2016_09_01:25003006|SNOMEDCT_US_2016_09_01:266321007 C1336972 Meningioma of optic tract Meningioma of Optic Tract | Meningioma of Visual Pathway | Meningioma of the Optic Tract | Meningioma of the Visual Pathway | Optic Tract Meningioma | Visual Pathway Meningioma NCI2016_02D:A meningioma that affects the visual pathway. C0238909 Cat scratch CAT SCRATCH | Cat scratch | Cat scratch (disorder) | Cat scratch (event) | Cat scratch (finding) | Scratched by cat | cat scratch ICD10CM_2017:W55.03|SNOMEDCT_US_2016_09_01:217719006|SNOMEDCT_US_2016_09_01:367140004 C3553656 Dhmn vb DHMN VB | DHMN5B | DSMAVB | HMN VB | HMN5B | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB | NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VB | SPINAL MUSCULAR ATROPHY, DISTAL, TYPE VB OMIM2016_04_17:614751 C1336891 Urinary bladder inflammatory myofibroblastic tumor Bladder Inflammatory Myofibroblastic Neoplasm | Bladder Inflammatory Myofibroblastic Tumor | Inflammatory Myofibroblastic Neoplasm of Bladder | Inflammatory Myofibroblastic Neoplasm of Urinary Bladder | Inflammatory Myofibroblastic Neoplasm of the Bladder | Inflammatory Myofibroblastic Neoplasm of the Urinary Bladder | Inflammatory Myofibroblastic Tumor of Bladder | Inflammatory Myofibroblastic Tumor of Urinary Bladder | Inflammatory Myofibroblastic Tumor of the Bladder | Inflammatory Myofibroblastic Tumor of the Urinary Bladder | Urinary Bladder Inflammatory Myofibroblastic Neoplasm | Urinary Bladder Inflammatory Myofibroblastic Tumor NCI2016_02D:A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. C0037824 Intelligibilities, speech Intelligibilities, Speech | Intelligibility, Speech | Speech Intelligibilities | Speech Intelligibility MSH2017_2016_08_12:Ability to make speech sounds that are recognizable. MSH2017_2016_08_12:D013065 C3489796 Thyroid hormone resistance, generalized, autosomal recessive GRTH | GTHR | REFETOFF SYNDROME | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE | THYROID HORMONE UNRESPONSIVENESS | Thyroid Hormone Resistance, Generalized, Autosomal Recessive MSH2017_2016_08_12:C567936|OMIM2016_04_17:190160|OMIM2016_04_17:274300 C2676244 Leukodystrophy, hypomyelinating, 6 HABC | HLD6 | LEUKODYSTROPHY, HYPOMYELINATING, 6 | LEUKODYSTROPHY, HYPOMYELINATING, WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM | Leukodystrophy, Hypomyelinating, 6 | Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum MSH2017_2016_08_12:C567314|OMIM2016_04_17:602662|OMIM2016_04_17:612438 C3151355 Megalencephalic leukoencephalopathy with subcortical cysts 2a MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | MLC2A OMIM2016_04_17:611642|OMIM2016_04_17:613925 C0022638 Ketosis High levels of ketone bodies | KETOSIS | Ketoacidoses | Ketoacidosis | Ketosis | Ketosis (disorder) | Ketosis [Disease/Finding] | Ketosis, NOS | ketosis HPO2016_07_04:Presence of elevated levels of ketone bodies in the body. [HPO:probinson] | MSH2017_2016_08_12:A condition characterized by an abnormally elevated concentration of KETONE BODIES in the blood (acetonemia) or urine (acetonuria). It is a sign of DIABETES COMPLICATION, starvation, alcoholism or a mitochondrial metabolic disturbance (e.g., MAPLE SYRUP URINE DISEASE). HPO2016_07_04:HP:0001946|MSH2017_2016_08_12:D007662|OMIM2016_04_17:MTHU011496|SNOMEDCT_US_2016_09_01:2538008 C1855663 Kaufman oculocerebrofacial syndrome BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME | BPIDS | KAUFMAN OCULOCEREBROFACIAL SYNDROME | KOS | Kaufman oculocerebrofacial syndrome MSH2017_2016_08_12:C537013|OMIM2016_04_17:244450|OMIM2016_04_17:608047 C3806275 Deafness and myopia DEAFNESS AND MYOPIA | DFNMYP OMIM2016_04_17:221200|OMIM2016_04_17:609681 C0276932 Schistosoma; intercalatum Infection by Schistosoma Intercalatum | Infection by Schistosoma intercalatum | Infection by Schistosoma intercalatum (disorder) | Infection caused by Schistosoma intercalatum | Infection caused by Schistosoma intercalatum (disorder) | Schistosoma; intercalatum | schistosomiasis due to Schistosoma intercalatum | schistosomiasis due to Schistosoma intercalatum (diagnosis) | schistosomiasis; Schistosoma intercalatum SNOMEDCT_US_2016_09_01:52179003 C0157647 Breast; engorgement, puerperal, postpartum Engorgement of breast associated with childbirth, postpartum | Engorgement of breasts associated with childbirth, postpartum condition or complication | breast; engorgement, puerperal, postpartum ICD9CM_2014:676.24 C0400923 Hepatic vascular disorder Hepatic Vascular Disorder | Hepatic vascular disorders | Liver Vascular Disorder | Vascular disorder of liver | Vascular disorder of liver (disorder) NCI2016_02D:A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma. SNOMEDCT_US_2016_09_01:235878005 C0267841 Acalculous cholecystitis Acalculous Cholecystitis | Acalculous Cholecystitis [Disease/Finding] | Acalculous Gallbladder Inflammation | Acalculous cholecystitis | Cholecystitis without calculus | Cholecystitis without calculus (disorder) | Cholecystitis, Acalculous | Cholecystitis, NOS without calculus | Gallbladder Inflammation, Acalculous | acalculous cholecystitis | acalculous cholecystitis (diagnosis) | cholecystitis acalculous MSH2017_2016_08_12:Inflammation of the GALLBLADDER wall in the absence of GALLSTONES. MSH2017_2016_08_12:D042101|SNOMEDCT_US_2016_09_01:19968009 C1839276 Broad secondary alveolar ridge Broad secondary alveolar ridge | Secondary alveolar ridges HPO2016_07_04:HP:0000216|OMIM2016_04_17:MTHU006810|OMIM2016_04_17:MTHU006869 C0206172 Diabetic foot DIABETIC FOOT | Diabetic Feet | Diabetic Foot | Diabetic Foot [Disease/Finding] | Diabetic foot | Diabetic foot (disorder) | Feet, Diabetic | Foot, Diabetic | diabetic feet | diabetic foot | diabetic foot ulcer | diabetic foot ulcers | diabetics feet MEDLINEPLUS_20151021:If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage your nerves or blood vessels. Nerve damage from diabetes can cause you to lose feeling in your feet. You may not feel a cut, a blister or a sore. Foot injuries such as these can cause ulcers and infections. Serious cases may even lead to amputation. Damage to the blood vessels can also mean that your feet do not get enough blood and oxygen. It is harder for your foot to heal, if you do get a sore or infection.
You can help avoid foot problems. First, control your blood sugar levels. Good foot hygiene is also crucial:
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
| MSH2017_2016_08_12:Common foot problems in persons with DIABETES MELLITUS, caused by any combination of factors such as DIABETIC NEUROPATHIES; PERIPHERAL VASCULAR DISEASES; and INFECTION. With the loss of sensation and poor circulation, injuries and infections often lead to severe foot ulceration, GANGRENE and AMPUTATION. MSH2017_2016_08_12:D017719|SNOMEDCT_US_2016_09_01:280137006 C0020413 Hymenolepiasis Hymenolepiases | Hymenolepiasis | Hymenolepiasis (disorder) | Hymenolepiasis [Disease/Finding] | Hymenolepiosis | Hymenolepis | Hymenolepis Infection | Hymenolepis Infections | Hymenolepis infection | Hymenolepsis infection | Infection, Hymenolepis | Infections, Hymenolepis | hymenolepiasis | hymenolepiasis (diagnosis) MSH2017_2016_08_12:Infection with tapeworms of the genus Hymenolepis. | NCI2016_02D:A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability. ICD10CM_2017:B71.0|ICD9CM_2014:123.6|MSH2017_2016_08_12:D006925|SNOMEDCT_US_2016_09_01:187153007|SNOMEDCT_US_2016_09_01:44917000 C1866029 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA | KLICK SYNDROME | KLICK Syndrome | Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma MSH2017_2016_08_12:C566600|OMIM2016_04_17:601952|OMIM2016_04_17:613386 C1393871 Congenital finger contractures Congenital finger contractures | Congenital finger flexion contractures | contracture; finger, congenital | finger; contracture, congenital HPO2016_07_04:Multiple bent (flexed) finger joints that cannot be straightened actively or passively. [HPO:probinson] HPO2016_07_04:HP:0005879|OMIM2016_04_17:MTHU019427 C1853767 Decreased distal vibration sense Decreased distal vibration sense | Impaired distal vibration sensation HPO2016_07_04:A decrease in the ability to perceive vibration in the distal portions of the limbs. [HPO:probinson] HPO2016_07_04:HP:0006886|OMIM2016_04_17:MTHU004247 C0037859 Spermatocele Cyst of Epididymis | Cyst of epididymis | Cyst of epididymis (disorder) | Cyst of the Epididymis | Cyst, Epididymal | Cyst;epididymal | Cysts, Epididymal | EPIDIDYMAL CYST | EPIDIDYMIS, CYST | Epididymal Cyst | Epididymal Cysts | Epididymal cyst | Epididymal cysts | SPERMATOCELE | Spermatocele | Spermatocele (disorder) | Spermatocele [Disease/Finding] | Spermatocele of epididymis | Spermatocele of epididymis, unspecified | Spermatocele, epididymis | Spermatoceles | cyst epididymal | cyst epididymis | cyst of epididymis | cyst of epididymis (diagnosis) | cyst; epididymis | cysts epididymal | cysts epididymis | epididymal cyst | epididymis cyst | epididymis spermatocele | epididymis spermatocele (___ cm) | epididymis; cyst | spermatocele | spermatocele (diagnosis) | spermatocele (physical finding) | spermatoceles | spermatocoele HPO2016_07_04:A smooth, extratesticular, spherical cyst in the head of the epididymis. [HPO:probinson, pmid:14767330] | MSH2017_2016_08_12:A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions. | NCI2016_02D:A benign cystic dilatation in the head of the epididymis that contains milky or watery fluid and spermatozoa. | NCI2016_CDISC_1602D:A benign cystic dilatation in the epididymis or testis that contains fluid and spermatozoa. HPO2016_07_04:HP:0030424|ICD10CM_2017:N43.4|ICD10CM_2017:N43.40|ICD10CM_2017:N50.3|ICD9CM_2014:608.1|MSH2017_2016_08_12:D013088|OMIM2016_04_17:MTHU015019|OMIM2016_04_17:MTHU018029|SNOMEDCT_US_2016_09_01:155936007|SNOMEDCT_US_2016_09_01:155941004|SNOMEDCT_US_2016_09_01:43077002|SNOMEDCT_US_2016_09_01:49263001 C0155765 Disease of capillaries CAPILLARIES | CAPILLARY DISORDER | Capillary Disorders | Capillary disease | Capillary disease, NOS | Capillary disorder | Capillary disorder NOS | Capillary disorder, NOS | Capillary vascular disease | DISEASES OF THE CAPILLARIES | Disease of capillaries | Disease of capillaries (disorder) | Disease of capillaries NOS | Disease of capillaries NOS (disorder) | Disease of capillaries, NOS | Disease of capillaries, unspecified | Diseases of capillaries | Diseases of capillaries (disorder) | Diseases of capillaries NOS | Disorder of capillaries | Disorder of capillaries (disorder) | Heredit. haemorr.telang | Heredit. hemorr.telang | Microangiopathy | Microangiopathy (disorder) | Microangiopathy NOS | Microangiopathy, NOS | capillary disease | capillary disease (diagnosis) | capillary disorders | disease (or disorder); capillaries | microangiopathy ICD10CM_2017:I78|ICD10CM_2017:I78.9|ICD9CM_2014:448|SNOMEDCT_US_2016_09_01:155446001|SNOMEDCT_US_2016_09_01:155449008|SNOMEDCT_US_2016_09_01:195250004|SNOMEDCT_US_2016_09_01:195380006|SNOMEDCT_US_2016_09_01:195390003|SNOMEDCT_US_2016_09_01:266324004|SNOMEDCT_US_2016_09_01:57223003|SNOMEDCT_US_2016_09_01:58729003 C3714535 Malocclusion, angle class ii Angle Class II | Angle class II occlusion | Angle's class II malocclusion | Angle's class II malocclusion (diagnosis) | Class II malocclusion | Class II, Angle | Malocclusion, Angle Class II | Malocclusion, Angle Class II [Disease/Finding] | Malocclusion, Angle class II | Malocclusion, Angle class II (disorder) | Malocclusion, Angle class II (disorder) [Ambiguous] | Malocclusion, Angle's class II | Posterior occlusion | Posteroclusion | Retrusive occlusion | malocclusion angle's class ii MSH2017_2016_08_12:Malocclusion in which the mandible is posterior to the maxilla as reflected by the relationship of the first permanent molar (distoclusion). ICD10CM_2017:M26.212|ICD9CM_2014:524.22|MSH2017_2016_08_12:D008312|OMIM2016_04_17:MTHU014185|SNOMEDCT_US_2016_09_01:109501002 C4025847 Abnormality of the conjunctiva Abnormality of the conjunctiva HPO2016_07_04:An abnormality of the conjunctiva. [HPO:curators] HPO2016_07_04:HP:0000502 C0334393 Adenocarcinoma with squamous metaplasia ADENOACANTHOMA, MALIGNANT | Adenoacanthoma | Adenocarcinoma with Squamous Metaplasia | Adenocarcinoma with squamous metaplasia | Adenocarcinoma with squamous metaplasia (morphologic abnormality) | adenocarcinoma with squamous metaplasia | adenocarcinoma with squamous metaplasia (diagnosis) NCI2016_02D:An invasive adenocarcinoma characterized by the presence of focal or extensive transformation of malignant glandular cells to squamous epithelial cells. | NCI2016_CDISC_1602D:A malignant neoplasm arising from glandular cells that includes focal or extensive areas of squamous metaplasia. SNOMEDCT_US_2016_09_01:15176003 C0079772 T-cell lymphoma LYMPHOMA T CELL | Lymphoma, T Cell | Lymphoma, T-Cell | Lymphoma, T-Cell [Disease/Finding] | Lymphomas non-Hodgkin's T-cell | Lymphomas, T-Cell | Malignant lymphoma, T-cell type | Non-Hodgkin's T-Cell Lymphoma | T Cell Lymphoma | T cell lymphoma | T-Cell Lymphoma | T-Cell Lymphomas | T-Cell Non-Hodgkin Lymphoma | T-Cell Non-Hodgkin's Lymphoma | T-Cell and NK-Cell Non-Hodgkin Lymphoma | T-Cell and NK-Cell Non-Hodgkin's Lymphoma | T-cell lymphoma | T-cell lymphoma (clinical) | T-cell lymphoma (diagnosis) | T-cell lymphoma (disorder) | T-cell lymphoma NOS | T-cell; lymphoma | cell lymphoma t | cell lymphomas t | cells lymphoma t | lymphoma t cell | lymphoma t-cell | lymphoma; T-cell | malignant neoplasm lymphoma t-cell | t cell lymphoma | t-cell lymphoma HPO2016_07_04:A type of lymphoma that originates in T-cells. [HPO:probinson] | MSH2017_2016_08_12:A group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes. | NCI2016_02D:A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003 | NCI2016_NCI-GLOSS_1602D:A disease in which certain cells of the lymph system (called T lymphocytes) become cancer. HPO2016_07_04:HP:0012190|MSH2017_2016_08_12:D016399|SNOMEDCT_US_2016_09_01:109978004|SNOMEDCT_US_2016_09_01:3172003 C1861833 Cataract, congenital, volkmann type CATARACT 8, MULTIPLE TYPES | CATARACT, CONGENITAL, VOLKMANN TYPE | CCV | CTRCT8 | Cataract congenital Volkmann type | Cataract, Congenital, Volkmann Type MSH2017_2016_08_12:C538285|OMIM2016_04_17:115665 C1332896 Central breast papilloma Central Breast Papilloma | Large Duct Breast Papilloma | Solitary Intraductal Breast Papilloma NCI2016_02D:A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge. C0524672 Positional nystagmus Nystagmus, Positional | Positional Nystagmus | Positional nystagmus | Positional nystagmus (disorder) | Positional nystagmus, NOS | positional nystagmus MSH2017_2016_08_12:D009760|SNOMEDCT_US_2016_09_01:95785004 C0015379 Extravasation of diagnostic and therapeutic materials Extravasation of Diagnostic and Therapeutic Materials | Extravasation of Diagnostic and Therapeutic Materials [Disease/Finding] | Extravasation of Diagnostic, Therapeutic Materials MSH2017_2016_08_12:The escape of diagnostic or therapeutic material from the vessel into which it is introduced into the surrounding tissue or body cavity. MSH2017_2016_08_12:D005119 C0206667 Adrenal cortical adenoma ADENOMA ADRENAL | ADENOMA, ADRENOCORTICAL, BENIGN | ADRENAL ADENOMA | ADRENAL CORTEX, ADENOMA | Adenoma adrenal | Adenoma of Adrenal Cortex | Adenoma of Adrenal Gland | Adenoma of the Adrenal Cortex | Adenoma of the Adrenal Gland | Adenoma, Adrenal Cortical | Adenoma, Adrenocortical | Adenoma;adrenal | Adenomas, Adrenal Cortical | Adenomas, Adrenocortical | Adrenal Adenoma | Adrenal Cortex Adenoma | Adrenal Cortical Adenoma | Adrenal Cortical Adenomas | Adrenal Gland Adenoma | Adrenal adenoma | Adrenal adenoma (disorder) | Adrenal cortic. adenoma NOS | Adrenal cortical adenoma | Adrenal cortical adenoma (disorder) | Adrenal cortical adenoma (morphologic abnormality) | Adrenal cortical adenoma - morphology | Adrenal cortical adenoma - morphology (morphologic abnormality) | Adrenal cortical adenoma NOS | Adrenal cortical adenoma morphology | Adrenal cortical adenoma, NOS | Adrenal cortical adenoma, no ICD-O subtype | Adrenal cortical adenoma, no ICD-O subtype (morphologic abnormality) | Adrenal cortical adenoma, no International Classification of Diseases for Oncology subtype | Adrenal cortical adenoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) | Adrenocortical Adenoma | Adrenocortical Adenoma [Disease/Finding] | Adrenocortical Adenomas | Adrenocortical adenoma | Adrenocortical adenomas | BENIGN ADRENAL ADENOMA | Benign Adenoma of Adrenal Gland | Benign Adenoma of the Adrenal Gland | Benign Adrenal Adenoma | Benign Adrenal Gland Adenoma | Cortical Cell Adenoma | [M]Adrenal cortic. adenoma NOS | [M]Adrenal cortical adenoma NOS | [M]Adrenal cortical adenoma NOS (morphologic abnormality) | adenoma adrenal | adenoma adrenal cortex | adenoma adrenal cortical | adenoma; adrenal | adenomas adrenal | adrenal adenoma | adrenal cortical adenoma | adrenal cortical adenoma (diagnosis) | adrenal; adenoma | adrenocortical adenoma HPO2016_07_04:Adrenocortical adenomas are benign tumors of the adrenal cortex. [HPO:probinson, pmid:17287480] | MSH2017_2016_08_12:A benign neoplasm of the ADRENAL CORTEX. It is characterized by a well-defined nodular lesion, usually less than 2.5 cm. Most adrenocortical adenomas are nonfunctional. The functional ones are yellow and contain LIPIDS. Depending on the cell type or cortical zone involved, they may produce ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. | NCI2016_02D:A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.) | NCI2016_CDISC_1602D:A benign neoplasm arising from any of the adrenal cortical layers. HPO2016_07_04:HP:0008256|MSH2017_2016_08_12:D018246|OMIM2016_04_17:MTHU018337|SNOMEDCT_US_2016_09_01:134348000|SNOMEDCT_US_2016_09_01:18365006|SNOMEDCT_US_2016_09_01:189646008|SNOMEDCT_US_2016_09_01:255036008|SNOMEDCT_US_2016_09_01:302826002 C1840362 Hypertrichosis universalis congenita, ambras type (disorder) AMBRAS SYNDROME | Ambras syndrome | HTC1 | HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE | HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE (disorder) | HYPERTRICHOSIS, CONGENITAL GENERALIZED | Hypertrichosis Universalis Congenita, Ambras Type | Hypertrichosis universalis congenita Ambras type MSH2017_2016_08_12:C536605|OMIM2016_04_17:145701 C0278197 Abdominal seizure Abdominal seizure | Abdominal seizure (finding) | Seizure, abdominal | Seizure, visceral | Visceral seizure | abdominal seizure | abdominal seizures SNOMEDCT_US_2016_09_01:83752007 C1861752 Multicore myopathy, moderate, with hand involvement MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT | Multicore Myopathy, Moderate, with Hand Involvement MSH2017_2016_08_12:C566147|OMIM2016_04_17:117000 C1264040 Von willebrand disease, type 2 Hereditary von Willebrand disease type 2 | Type 2 von Willebrand Disease | Type II von Willebrand Disease | VON WILLEBRAND DISEASE, TYPE 2 | VON WILLEBRAND DISEASE, TYPE II | VWD, TYPE 2 | VWD2 | von Willebrand Disease, Type 2 | von Willebrand Disease, Type 2 [Disease/Finding] | von Willebrand Disease, Type II | von Willebrand disease type 2 | von Willebrand disease type 2 (disorder) | von Willebrand's disease type 2 | von Willebrand's disease type 2 (diagnosis) MSH2017_2016_08_12:A subtype of von Willebrand disease that results from qualitative deficiencies of VON WILLEBRAND FACTOR. The subtype is divided into several variants with each variant having a distinctive pattern of PLATELET-interaction. MSH2017_2016_08_12:D056728|OMIM2016_04_17:613554|SNOMEDCT_US_2016_09_01:128107007 C0392051 Lymphadenopathy suppurative LYMPHADENOPATHY SUPPURATIVE | Lymphadenitis suppurative | Lymphadenopathy suppurative | Suppurative Lymphadenitis | Suppurative lymphadenitis | Suppurative lymphadenopathy | Suppurative lymphadenopathy (diagnosis) | Suppurative lymphadenopathy (disorder) | lymphadenitis; purulent | lymphadenitis; suppurative | lymphadenopathy suppurative | purulent; lymphadenitis | suppurative lymphadenitis | suppurative; lymphadenitis SNOMEDCT_US_2016_09_01:48573006 C0149955 Annular pancreas Annular Pancreas | Annular pancreas | Annular pancreas (disorder) | Anular pancreas | PANCREAS, ANNULAR | Pancreas, annular | annular pancreas | annular pancreas (diagnosis) | annular; pancreas | annulare; pancreas | anular pancreas | pancreas annular | pancreas; annular | pancreas; annulare HPO2016_07_04:A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. [HPO:probinson] | NCI2016_02D:A rare congenital abnormality in which the duodenum is surrounded by a ring of pancreatic tissue. It may result in constriction of the duodenum and feeding intolerance. HPO2016_07_04:HP:0001734|ICD10CM_2017:Q45.1|MSH2017_2016_08_12:C536376|OMIM2016_04_17:167750|OMIM2016_04_17:MTHU009578|SNOMEDCT_US_2016_09_01:40315008 C0017155 Gastritis, hypertrophic Adenopapillomatosis gastrica | Chronic hypertrophic gastritis | Disease, Menetrier | Disease, Menetrier's | GASTRITIS GIANT HYPERTROPHICA hiatal hernia is a condition in which the upper part of the stomach bulges through an opening in the diaphragm. The diaphragm is the muscle wall that separates the stomach from the chest. The diaphragm helps keep acid from coming up into the esophagus. When you have a hiatal hernia, it's easier for the acid to come up. The leaking of acid from the stomach into the esophagus is called gastroesophageal reflux disease (GERD). GERD may cause symptoms such as
Hiatal hernias are common, especially in people over age 50. If you have symptoms, eating small meals, avoiding certain foods, not smoking or drinking alcohol, and losing weight may help. Your doctor may recommend antacids or other medicines. If these don't help, you may need surgery.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
| MSH2017_2016_08_12:STOMACH herniation located at or near the diaphragmatic opening for the ESOPHAGUS, the esophageal hiatus. | NCI2016_02D:Herniation of the upper part of the stomach through the diaphragm. HPO2016_07_04:HP:0002036|MSH2017_2016_08_12:D006551|OMIM2016_04_17:142400|OMIM2016_04_17:MTHU000487|OMIM2016_04_17:MTHU007650|SNOMEDCT_US_2016_09_01:155748004|SNOMEDCT_US_2016_09_01:196901006|SNOMEDCT_US_2016_09_01:196914007|SNOMEDCT_US_2016_09_01:266511003|SNOMEDCT_US_2016_09_01:309811003|SNOMEDCT_US_2016_09_01:84089009 C4025594 Positive regitine blocking test Positive regitine blocking test HPO2016_07_04:A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension. [HPO:probinson] HPO2016_07_04:HP:0003574 C4018871 Abnormality of the respiratory system Abnormality of the respiratory system | Respiratory abnormality HPO2016_07_04:An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. [HPO:probinson] HPO2016_07_04:HP:0002086 C4024918 Recurrent subcortical infarcts Recurrent subcortical infarcts HPO2016_07_04:HP:0007236 C0860239 Catheter infections related Catheter Associated Infections | Catheter Related Infection | Catheter Related Infections | Catheter related infection | Catheter-Associated Infection | Catheter-Associated Infections | Catheter-Related Infection | Catheter-Related Infections | Catheter-Related Infections [Disease/Finding] | Infection associated with catheter | Infection associated with catheter (disorder) | Infection, Catheter-Associated | Infection, Catheter-Related | Infections, Catheter-Associated | Infections, Catheter-Related | catheter infections related | catheter related infection MSH2017_2016_08_12:Infections resulting from the use of catheters. Proper aseptic technique, site of catheter placement, material composition, and virulence of the organism are all factors that can influence possible infection. | NCI2016_02D:An infection that arises secondary to catheter use. | NCI2016_CTCAE_1602D:A disorder characterized by an infectious process that arises secondary to catheter use. MSH2017_2016_08_12:D055499|SNOMEDCT_US_2016_09_01:440653007 C1333155 Conventional angiosarcoma Conventional Angiosarcoma NCI2016_02D:An angiosarcoma characterized by the presence of malignant spindle endothelial cells. C0023012 Language delay Delayed language acquisition | Delayed language development | Delayed;language | Language Delay | Language Delays | Language delay | Language delayed | Language development deficit | Poor language development | delay language | delayed language | language delay | language delayed | language delayed (diagnosis) | language delays HPO2016_07_04:HP:0000750|MSH2017_2016_08_12:D007805|OMIM2016_04_17:MTHU000280|OMIM2016_04_17:MTHU003893|OMIM2016_04_17:MTHU012914|OMIM2016_04_17:MTHU025231|OMIM2016_04_17:MTHU027590 C0432313 Epidermolysis bullosa simplex with hypodontia Epidermolysis bullosa simplex with hypodontia | Epidermolysis bullosa simplex with hypodontia (disorder) | Kallin's syndrome SNOMEDCT_US_2016_09_01:254177003 C1858493 Febrile convulsions, familial, 4 CONVULSIONS, FAMILIAL FEBRILE, 4 | Convulsions, Familial Febrile, 4 | FEB4 | FEBRILE CONVULSIONS, FAMILIAL, 4 | FEBRILE SEIZURES, FAMILIAL, 4 | Febrile Convulsions, Familial, 4 | Seizures, Familial Febrile, 4 MSH2017_2016_08_12:C565788|OMIM2016_04_17:604352 C2981403 Stage iiic colorectal cancer Stage IIIC Colorectal Cancer | Stage IIIC Colorectal Cancer AJCC v7 NCI2016_02D:Stage IIIC includes: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. T4b: Tumor directly invades or is adherent to other organs or structures. N1: Metastasis in 1-3 regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. N2a: Metastasis in 4-6 regional lymph nodes. N2b: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.) C4020953 Abnormality of vertebral epiphysis morphology Abnormal shape of the end part of the vertebra bone | Abnormality of the vertebral epiphyses | Abnormality of vertebral epiphysis morphology HPO2016_07_04:An anomaly of one or more epiphyses of one or more vertebrae. [] HPO2016_07_04:HP:0100734 C4022973 Hypoglycinemia Hypoglycinemia | Low blood glycine levels HPO2016_07_04:An abnormally reduced concentration of glycine in the blood. [HPO:probinson] HPO2016_07_04:HP:0012277 C4024296 Projection of scalp hair onto the lateral cheek Hair growing down to cheek | Projection of scalp hair onto lateral cheek | Projection of scalp hair onto the lateral cheek HPO2016_07_04:An tongue-like extension of hair towards the cheeks. [HPO:curators] HPO2016_07_04:HP:0009554|OMIM2016_04_17:MTHU048589 C0022134 Islet cell adenoma Adenoma, Islet Cell | Adenoma, Islet Cell [Disease/Finding] | Adenomas, Islet Cell | Islet Cell Adenoma | Islet Cell Adenomas | Islet cell adenoma | Islet cell adenoma (disorder) | Islet cell adenoma (morphologic abnormality) | Islet cell adenoma [Ambiguous] | Islet cell tumor, benign | Islet cell tumour, benign | Pancreatic endocrine tumor, benign | Pancreatic endocrine tumour, benign | islet cell adenoma | nesidioblastoma MSH2017_2016_08_12:A benign tumor of the pancreatic ISLET CELLS. Usually it involves the INSULIN-producing PANCREATIC BETA CELLS, as in INSULINOMA, resulting in HYPERINSULINISM. | NCI2016_02D:A benign endocrine neoplasm arising from the pancreas. It is separated from the normal pancreatic tissues by a thin collagenous capsule. It may secrete a hormone (e.g. insulin, gastrin) or it may be non-functional. MSH2017_2016_08_12:D007516|SNOMEDCT_US_2016_09_01:189586007|SNOMEDCT_US_2016_09_01:76345009 C4024703 Impaired collagen-induced platelet aggregation Impaired collagen-induced platelet aggregation HPO2016_07_04:Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. [DDD:kfreson] HPO2016_07_04:HP:0008320 C1844857 Short nasal septum Decreased length of nasal septum | Decreased length of septum of nose | Short nasal septum | Short septum of nose HPO2016_07_04:Reduced superior to inferior length of the nasal septum. [HPO:probinson] HPO2016_07_04:HP:0000420|OMIM2016_04_17:MTHU007991 C0009917 Contracture CONTRACTURE | CONTRACTURE MUSCLE | Contracture | Contracture (morphologic abnormality) | Contracture [Disease/Finding] | Contracture of muscle | Contracture of muscle (disorder) | Contracture of muscle, site unspecified | Contracture of muscle, unspecified site | Contracture, NOS | Contracture;muscle(s) | Contractures | Contractures NOS | MUSCLE CONTRACTURE | Muscle Contracture | Muscle contracture | Muscle contracture (disorder) | contracture | contracture; muscle | contractures | contractures muscle | contractures muscles | muscle contracture | muscle contracture (diagnosis) | muscle; contracture CHV2011_02:An abnormal, often permanent shortening of muscle or scar tissue that results in deformity of a joint of the body | CSP2006:high resistance to passive stretch of a muscle, resulting from fibrosis of the tissue supporting the muscles or the joints, or from disorder of the muscle fibers. | MSH2017_2016_08_12:Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint. | NCI2016_02D:Permanent contraction of a muscle as a result of spasm or paralysis. HPO2016_07_04:HP:0001371|ICD10CM_2017:M62.4|ICD10CM_2017:M62.40|MSH2017_2016_08_12:D003286|OMIM2016_04_17:MTHU002170|SNOMEDCT_US_2016_09_01:156729009|SNOMEDCT_US_2016_09_01:203093007|SNOMEDCT_US_2016_09_01:268106003|SNOMEDCT_US_2016_09_01:55033002|SNOMEDCT_US_2016_09_01:57048009 C0035372 Rett syndrome AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE | Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome | Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use | Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome | Cerebroatrophic Hyperammonemia | Cerebroatrophic Hyperammonemias | Cerebroatrophic hyperammonaemia | Cerebroatrophic hyperammonemia | Hyperammonemia, Cerebroatrophic | Hyperammonemias, Cerebroatrophic | RETT SYNDROME | RTS | RTS - Rett syndrome | RTT | Rett | Rett Disorder | Rett Syndrome | Rett Syndrome [Disease/Finding] | Rett disorder | Rett syndrome | Rett syndrome (RS, RTS) | Rett syndrome (disorder) | Rett's Disorder | Rett's Syndrome | Rett's disorder | Rett's disorder (disorder) | Rett's syndrome | Rett's syndrome (diagnosis) | Retts Syndrome | Retts syndrome | Syndrome, Rett | Syndrome, Rett's | autism-dementia-ataxia-loss of purposeful hand use syndrome | cerebroatrophic hyperammonemia | disorder retts | rett disorder | rett syndrome | rett's disorder | rett's syndrome | retts syndrome | syndrome rett CSP2006:progressive disorder affecting the cerebral cortex of females; present from birth; manifested by autistic behavior, ataxia, dementia, seizures, loss of purposeful usefulness of the hands, cerebral atrophy, and mild hyperammonemia. | JABL99:Progressive encephalopathy occurring almost exclusively in females. The affected children are generally born clinically normal in most but not all cases. Their neurological and mental development begins to stagnate between the ages of 7 and 18 months with slowing down of the growth of head circumference and a rapid deterioration of brain functions marked by autistic behavior, dementia, apraxia of gait, loss of facial expression, deterioration of purposeful use of hands, ataxia, and severe dementia. There is an intermediate period of relative stable mental status, sometimes lasting several decades, which is followed by further neurological degradation, marked mainly by spasticity of the lower limbs and epilepsy. | MEDLINEPLUS_20151021:Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include
Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives.
NIH: National Institute of Child Health and Human Development
| MSH2017_2016_08_12:An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199) | NCI2016_02D:A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances. ICD10CM_2017:F84.2|MSH2017_2016_08_12:D015518|OMIM2016_04_17:300005|OMIM2016_04_17:312750|SNOMEDCT_US_2016_09_01:192583003|SNOMEDCT_US_2016_09_01:68618008 C3280471 Odg3 ODG3 | OVARIAN DYSGENESIS 3 OMIM2016_04_17:608665|OMIM2016_04_17:614324 C1305968 Eccrine dermal cylindroma TURBAN TUMOR' SYNDROME | 'Turban Tumor' Syndrome | ANCELL-SPIEGLER CYLINDROMAS | Ancell-Spiegler cylindromas | CYLINDROMAS, DERMAL ECCRINE | CYLINDROMATOSIS, FAMILIAL | Cylindroma | Cylindroma of Skin | Cylindroma of skin | Cylindroma of the Skin | Cylindromas, Dermal Eccrine | Cylindromatosis, familial | Dermal Cylindroma | Dermal Eccrine Cylindroma | Dermal cylindroma | Eccrine dermal cylindroma | Eccrine dermal cylindroma (disorder) | Eccrine dermal cylindroma of skin | Eccrine dermal cylindroma of skin (disorder) | Familial Trichoepithelioma | Familial cylindromatosis | Spiegler's tumor | Spiegler's tumour | Turban tumor | Turban tumor syndrome | Turban tumors | Turban tumour | [M]Eccrine dermal cylindroma NCI2016_02D:A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative. MSH2017_2016_08_12:C536611|OMIM2016_04_17:132700|OMIM2016_04_17:605018|SNOMEDCT_US_2016_09_01:274903001 C1854380 Nemaline myopathy 5 AMISH NEMALINE MYOPATHY | ANM | Amish Nemaline Myopathy | NEM5 | NEMALINE MYOPATHY 5 | NEMALINE MYOPATHY, AMISH TYPE | Nemaline Myopathy, Amish Type | Nemaline myopathy 5 | Nemaline myopathy, caused by mutation in the troponin t1 gene MSH2017_2016_08_12:C538397|OMIM2016_04_17:191041|OMIM2016_04_17:605355 C4274324 Genetic recurrent myoglobinuria Genetic recurrent myoglobinuria | Genetic recurrent myoglobinuria (disorder) SNOMEDCT_US_2016_09_01:An inborn error of metabolism characterised by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibres. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. | SNOMEDCT_US_2016_09_01:An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. SNOMEDCT_US_2016_09_01:716721003 C1862932 Aneurysm, intracranial berry, 1 (disorder) ANEURYSM, INTRACRANIAL BERRY, 1 | ANEURYSM, INTRACRANIAL BERRY, 1 (disorder) | ANEURYSMAL SUBARACHNOID HEMORRHAGE, FAMILIAL | ANIB1 | Aneurysm, Intracranial Berry, 1 | Aneurysmal Subarachnoid Hemorrhage, Familial MSH2017_2016_08_12:C566284|OMIM2016_04_17:105800 C1708781 Lung sarcomatoid carcinoma Lung Sarcomatoid Carcinoma NCI2016_02D:A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor. C1846609 Epilepsy, partial, with pericentral spikes EPILEPSY, PARTIAL, WITH PERICENTRAL SPIKES | EPPS | Epilepsy, Partial, with Pericentral Spikes | PEPS MSH2017_2016_08_12:C564605|OMIM2016_04_17:607221 C0029002 Onchocerciasis, ocular Blindness, River | Ocular Onchocerciases | Ocular Onchocerciasis | Ocular onchocerciasis | Ocular onchocerciasis (disorder) | Onchocerciases, Ocular | Onchocerciasis, Ocular | Onchocerciasis, Ocular [Disease/Finding] | River Blindness | River blindness | river blindness | river blindness (etiology) | river blindness (manifestation) MSH2017_2016_08_12:Filarial infection of the eyes transmitted from person to person by bites of Onchocerca volvulus-infected black flies. The microfilariae of Onchocerca are thus deposited beneath the skin. They migrate through various tissues including the eye. Those persons infected have impaired vision and up to 20% are blind. The incidence of eye lesions has been reported to be as high as 30% in Central America and parts of Africa. MSH2017_2016_08_12:D015827|SNOMEDCT_US_2016_09_01:240842000 C0259817 Xerosis XEROSIS | Xerosis | xerosis HPO2016_07_04:HP:0000958|OMIM2016_04_17:MTHU002996 C1334743 Metastatic squamous cell breast carcinoma Metastatic Squamous Cell Breast Carcinoma | Metastatic Squamous Cell Carcinoma of Breast | Metastatic Squamous Cell Carcinoma of the Breast NCI2016_02D:A squamous cell carcinoma that arises from the breast parenchyma and has metastasized to other anatomic sites. C1456144 Dental caries pit and fissure Dental caries pit and fissure ICD9CM_2014:521.06 C0268363 Osteogenesis imperfecta type iv (disorder) OI, TYPE IV | OI4 | OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE | OSTEOGENESIS IMPERFECTA, TYPE IV | Osteogenesis Imperfecta Type IV | Osteogenesis Imperfecta, Type IV | Osteogenesis imperfecta type IV | Osteogenesis imperfecta type IV (disorder) | Osteogenesis imperfecta with normal sclerae | Osteogenesis imperfecta with normal sclerae, dominant form | Osteogenesis imperfecta with normal sclerae, dominant form (disorder) | Osteogenesis imperfecta with normal sclerae, dominant form (disorder) [Ambiguous] | Osteogenesis imperfecta, type 4 | Osteogenesis imperfecta, type IV | osteogenesis imperfecta type IV | osteogenesis imperfecta type IV (diagnosis) NCI2016_02D:A type of osteogenesis imperfecta that is characterized by fractures and hearing loss. It is more severe than type I and less severe than types II and III. MSH2017_2016_08_12:C536045|OMIM2016_04_17:120150|OMIM2016_04_17:120160|OMIM2016_04_17:166220|SNOMEDCT_US_2016_09_01:205497004|SNOMEDCT_US_2016_09_01:50937002 C0265280 Spondylometaphyseal dysplasia, kozlowski type Kozlowski spondylometaphyseal dysplasia | Kozlowski spondylometaphyseal dysplasia (disorder) | Kozlowski's spondylometaphyseal dysplasia syndrome | SMD, KOZLOWSKI TYPE | SMD, Kozlowski Type | SMDK | SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE | Spondylometaphyseal dysplasia - Kozlowski type | Spondylometaphyseal dysplasia - Kozlowski type (disorder) | Spondylometaphyseal dysplasia, Kozlowski type MSH2017_2016_08_12:C535797|OMIM2016_04_17:184252|OMIM2016_04_17:605427|SNOMEDCT_US_2016_09_01:111304003|SNOMEDCT_US_2016_09_01:254077000 C3280309 Arthrogryposis, perthes disease, and upward gaze palsy APUG | ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY OMIM2016_04_17:614262 C0029579 Other lung disease nec in icd9cm OTHER LUNG DISEASE NEC in ICD9CM | Other diseases of lung, not elsewhere classified ICD9CM_2014:518.89 C0023452 Leukemia, lymphocytic, acute, l1 ALL, Childhood | ALL, childhood | ALL, pediatric | Childhood ALL | Childhood Acute Lymphoblastic Leukemia | Childhood Acute Lymphocytic Leukemia | Childhood Acute Lymphogenous Leukemia | Childhood Acute Lymphoid Leukemia | Childhood Precursor Lymphoblastic Leukemia | L1 Acute Lymphoblastic Leukemia | L1 Lymphocytic Leukemia | Leukemia, L1 Lymphocytic | Leukemia, Lymphoblastic, Acute, L1 | Leukemia, Lymphocytic, Acute, L1 | Leukemia, acute lymphocytic (ALL), child | Lymphoblastic Leukemia, Acute, Childhood | Lymphoblastic Leukemia, Acute, L1 | Lymphocytic Leukemia, L1 | Pediatric ALL | Pediatric Acute Lymphoblastic Leukemia | Pediatric Acute Lymphocytic Leukemia | Pediatric Acute Lymphocytic Leukemia (ALL) | Pediatric Acute Lymphogenous Leukemia | Pediatric Acute Lymphoid Leukemia | acute lymphoblastic leukemia, childhood | acute lymphoblastic leukemia, pediatric | acute lymphocytic leukemia, childhood | acute lymphocytic leukemia, pediatric | childhood ALL | childhood acute lymphoblastic leukemia | childhood acute lymphocytic leukemia | childhood all | childhood leukemia, acute lymphoblastic | childhood leukemia, acute lymphocytic | leukemia, acute lymphoblastic, childhood | leukemia, acute lymphoblastic, pediatric | leukemia, acute lymphocytic, childhood | leukemia, acute lymphocytic, pediatric | lymphoblastic leukemia, acute, childhood | lymphoblastic leukemia, acute, pediatric | lymphocytic leukemia, acute, childhood | lymphocytic leukemia, acute, pediatric | pediatric ALL | pediatric acute lymphocytic leukemia | pediatric all | pediatric leukemia, acute lymphocytic MSH2017_2016_08_12:When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term. | NCI2016_02D:An acute lymphoblastic leukemia (current term: precursor lymphoblastic leukemia) of B-or T-cell origin which according to the FAB classification is characterized by the presence of more mature-appearing lymphoblasts. | NCI2016_02D:An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias. MSH2017_2016_08_12:D054198 C0003621 Appetite disorders Appetite Disorder | Appetite Disorders | Appetite disorder | Appetite disorder NOS | Appetite disorders | appetite disorder MSH2017_2016_08_12:D001068 C0154694 Spastic hemiplegia Hemiplegia, Spastic | Hemiplegias, Spastic | SPASTIC HEMIPLEGIA | Spastic Hemiplegia | Spastic Hemiplegias | Spastic hemiparesis | Spastic hemiplegia | Spastic hemiplegia (disorder) | Spastic hemiplegia affecting unspecified side | Spastic hemiplegia and hemiparesis affecting unspecified side | Spastic hemiplegia syndrome | Spastic hemiplegia, affecting unspecified side | hemiplegia spastic | hemiplegia; hypertonic | hemiplegia; spastic | hypertonic; hemiplegia | spastic hemiplegia | spastic hemiplegia (diagnosis) | spastic; hemiplegia HPO2016_07_04:Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes. [HPO:probinson] | NCI2016_02D:A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body. | NCI2016_NICHD_1602D:A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body. HPO2016_07_04:HP:0011099|ICD10CM_2017:G81.1|ICD10CM_2017:G81.10|ICD9CM_2014:342.1|ICD9CM_2014:342.10|MSH2017_2016_08_12:D006429|SNOMEDCT_US_2016_09_01:192943001|SNOMEDCT_US_2016_09_01:267589002|SNOMEDCT_US_2016_09_01:79633009 C1565107 Disorder, secondary headache Disorder, Secondary Headache | Disorders, Secondary Headache | Headache Disorder, Secondary | Headache Disorders, Secondary | Headache Disorders, Secondary [Disease/Finding] | Secondary Headache Disorder | Secondary Headache Disorders MSH2017_2016_08_12:Conditions with HEADACHE symptom that can be attributed to a variety of causes including BRAIN VASCULAR DISORDERS; WOUNDS AND INJURIES; INFECTION; drug use or its withdrawal. MSH2017_2016_08_12:D051271 C2106863 Pain due to orthopedic device, implant, or graft pain due to orthopedic device, implant, or graft | pain due to orthopedic device, implant, or graft (diagnosis) C4280529 Excessive growth of skull bones Excessive growth of skull bones | Overgrowth of skull bones HPO2016_07_04:HP:0004437 C0342158 Hypothyroidism, autoimmune Autoimmune hypothyroidism | Autoimmune hypothyroidism (disorder) | Autoimmune myxedema | Autoimmune myxoedema | HYPOTHYROIDISM, AUTOIMMUNE | Hypothyroidism (autoimmune) | Hypothyroidism with positive thyroid antibodies | Hypothyroidism, Autoimmune MSH2017_2016_08_12:C562768|OMIM2016_04_17:140300|OMIM2016_04_17:MTHU002620|SNOMEDCT_US_2016_09_01:190288004|SNOMEDCT_US_2016_09_01:237519003 C0232195 Ventricular rhythm from artificial pacing Ventricular rhythm from artificial pacing | Ventricular rhythm from artificial pacing (finding) SNOMEDCT_US_2016_09_01:61552005 C1839888 Decreased activity of the pyruvate dehydrogenase complex Decreased activity of pyruvate dehydrogenase complex | Decreased activity of the PDH complex | Decreased activity of the pyruvate dehydrogenase complex | Pyruvate dehydrogenase complex deficiency HPO2016_07_04:HP:0002928|OMIM2016_04_17:MTHU033490 C0263885 Atlantoaxial torticollis Atlantoaxial torticollis | Grisel syndrome | Grisel's disease | Grisel's syndrome | Grisel's syndrome (disorder) | Nasopharyngeal torticollis SNOMEDCT_US_2016_09_01:89902003 C0796083 Najjar syndrome CARDIOGENITAL SYNDROME | Cardiogenital syndrome | GENITAL ANOMALY WITH CARDIOMYOPATHY | Genital Anomaly With Cardiomyopathy | NAJJAR SYNDROME | Najjar syndrome | cardiogenital syndrome | genital anomaly-cardiomyopathy syndrome JABL99:Mental retardation with genital anomalies and cardiomyopathy. MSH2017_2016_08_12:C535580|OMIM2016_04_17:212112 C1859273 Dense calcifications in the cerebellar dentate nucleus Dense calcifications in the cerebellar dentate nucleus HPO2016_07_04:HP:0002461|OMIM2016_04_17:MTHU014019 C0344058 Infection by thelazia, nos Conjunctival spirurosis | Infection by Thelazia | Infection by Thelazia (disorder) | Infection by Thelazia, NOS | Infection caused by Thelazia | Infection caused by Thelazia (disorder) | Thelaziasis | Thelaziosis | Verminous ophthalmia | thelaziasis ICD10CM_2017:B83.8|SNOMEDCT_US_2016_09_01:46477004 C4022979 Decreased muscle glycogen content Decreased muscle glycogen content HPO2016_07_04:A decreased amount of glycogen in muscle tissue. [HPO:probinson] HPO2016_07_04:HP:0012270 C3899981 Bclc stage a adult hepatocellular carcinoma BCLC Stage A Adult Hepatocellular Carcinoma | Barcelona Clinic Liver Cancer Stage A Adult Hepatocellular Carcinoma NCI2016_02D:Early hepatocellular carcinoma. Patients are candidates for radical therapies (resection, liver transplantation, or percutaneous treatments). (HPB (Oxford) 2005; 7(1):35-41) C3279601 Reticular pigmentation pattern Reticular pigmentation pattern HPO2016_07_04:HP:0007427|OMIM2016_04_17:MTHU034884 C1852197 Major affective disorder 1 BIPOLAR AFFECTIVE DISORDER | BPAD | MAFD1 | MAJOR AFFECTIVE DISORDER 1 | MANIC-DEPRESSIVE PSYCHOSIS | MANIC-DEPRESSIVE PSYCHOSIS, AUTOSOMAL | MD1 | Major Affective Disorder 1 | Manic-Depressive Psychosis, Autosomal MSH2017_2016_08_12:C565111|OMIM2016_04_17:125480 C0259771 Steatocystoma multiplex Cyst, Multiple Sebaceous | Cysts, Multiple Sebaceous | Hereditary epidermal polycystic disease | Multiple Sebaceous Cyst | Multiple Sebaceous Cysts | Multiplex Steatocystoma | Multiplex Steatocystomas | SEBACEOUS CYSTS, MULTIPLE | STEATOCYSTOMA MULTIPLEX | Sebaceous Cyst, Multiple | Sebaceous Cysts, Multiple | Sebocystomatosis | Steatocystoma Multiplex | Steatocystoma Multiplex [Disease/Finding] | Steatocystoma Multiplices | Steatocystoma multiplex | Steatocystoma multiplex (disorder) | Steatocystoma, Multiplex | Steatocystomas, Multiplex | steatocystoma multiplex | steatocystoma multiplex (diagnosis) | steatocystoma multiplex disorder HPO2016_07_04:Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities). [HPO:probinson, pmid:20631281] | MSH2017_2016_08_12:A disorder characterized by multiple, wide spread cutaneous cysts that often become inflamed and rupture. It is caused by the same mutations in the gene coding for KRT-17 that are causative mutations for Pachyonychia congenita, Type 2. Natal teeth involvement is sometimes associated with steatocystoma multiplex. HPO2016_07_04:HP:0012035|ICD10CM_2017:L72.2|MSH2017_2016_08_12:D062685|OMIM2016_04_17:148069|OMIM2016_04_17:184500|OMIM2016_04_17:MTHU015487|SNOMEDCT_US_2016_09_01:109433009|SNOMEDCT_US_2016_09_01:201323004 C1410262 Epilepsy; stress Stress-induced epilepsy | Stress-induced epilepsy (disorder) | epilepsy; stress | stress; epileptic SNOMEDCT_US_2016_09_01:413101007 C4013035 Brain small vessel disease with or without ocular anomalies BRAIN SMALL VESSEL DISEASE | BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES | BSVD OMIM2016_04_17:120130|OMIM2016_04_17:607595 C0268297 Pseudovaginal perineoscrotal hypospadias 3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) | 5 Alpha Steroid Reductase 2 Deficiency | 5 alpha deficiency reductase | 5 alpha-reductase deficiency | 5 alpha-reductase deficiency (diagnosis) | 5-alpha reductase deficiency | 5-alpha-reductase deficiency | 5-alpha-reductase; deficiency | 5a-reductase deficiency | FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2 | Familial Incomplete Male Pseudohermaphroditism, Type 2 | Familial incomplete male pseudohermaphroditism, type 2 | MALE PSEUDOHERMAPHRODITISM DUE TO 5-ALPHA-REDUCTASE DEFICIENCY | Male Pseudohermaphroditism due to 5-Alpha-Reductase Deficiency | PPSH | PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS | Pseudovaginal Perineoscrotal Hypospadias | Pseudovaginal perineoscrotal hypospadias | Steroid 5-alpha-reductase deficiency | Steroid 5a-reductase deficiency | deficiency; 5-alpha-reductase | ppsh NCI2016_02D:An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism. MSH2017_2016_08_12:C535830|OMIM2016_04_17:264600|OMIM2016_04_17:607306|SNOMEDCT_US_2016_09_01:57514000 C0085543 Epilepsia partialis continua Epilepsia Partialis Continua | Epilepsia Partialis Continua [Disease/Finding] | Epilepsia partialis continua | Epilepsia partialis continua (disorder) | Epilepsia partialis continua [Kozhevnikof] | Epilepsies, Kojevnikov's | Epilepsy, Kojevnikov's | Epilepsy, Kojewnikov's | Focal status epilepticus | Kojevnikov Epilepsy | Kojevnikov epilepsy | Kojevnikov's Epilepsies | Kojevnikov's Epilepsy | Kojevnikov's epilepsy | Kojevnikov's epilepsy (disorder) | Kojewnikoff's syndrome | Kojewnikov Epilepsy | Kojewnikov's Epilepsy | Kojewnikov's epilepsy | Kojewnikow Syndrome | Kojewnikow's Syndrome | Kozhevnikov Syndrome | Kozhevnikov's Syndrome | Motor simple partial status | Syndrome, Kojewnikow | Syndrome, Kojewnikow's | Syndrome, Kozhevnikov | Syndrome, Kozhevnikov's | epilepsia partialis continua | epilepsia partialis continua (diagnosis) | kojevnikov's epilepsy | kojewnikow syndrome HPO2016_07_04:A form of partial status epilepticus with simple motor manifestations that are maintained for over one hour, with clonic activity restricted to one body part and recurring at fairly regular intervals. [UToronto:htrang] | MSH2017_2016_08_12:A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319) HPO2016_07_04:HP:0012847|ICD10CM_2017:G40.1|ICD9CM_2014:345.7|MSH2017_2016_08_12:D017036|OMIM2016_04_17:MTHU037238|SNOMEDCT_US_2016_09_01:193017009|SNOMEDCT_US_2016_09_01:241006|SNOMEDCT_US_2016_09_01:423086004 C1332892 Cns sarcoma CNS Sarcoma | Central Nervous System Sarcoma | Sarcoma of CNS | Sarcoma of Central Nervous System | Sarcoma of the CNS | Sarcoma of the Central Nervous System | sarcoma of central nervous system | sarcoma of central nervous system (diagnosis) C0013446 Acquired ear deformities Acquired Ear Deformities | Acquired Ear Deformity | Acquired anomaly of ear | Acquired anomaly of ear (disorder) | Deformities, Acquired Ear | Deformity, Acquired Ear | Ear Deformities, Acquired | Ear Deformities, Acquired [Disease/Finding] | Ear Deformity, Acquired | Ear deformity acquired MSH2017_2016_08_12:Distortion or disfigurement of the ear caused by disease or injury after birth. MSH2017_2016_08_12:D004426|SNOMEDCT_US_2016_09_01:109907005 C3149276 Chromosome 16p12.1 deletion syndrome, 520-kb CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB OMIM2016_04_17:136570 C2051306 Patellofemoral syndrome of left knee Patellofemoral syndrome of left knee | Patellofemoral syndrome of left knee (disorder) | patellofemoral syndrome of left knee | patellofemoral syndrome of left knee (diagnosis) SNOMEDCT_US_2016_09_01:1075341000119107 C2931225 Thomas syndrome Potter sequence cleft lip and palate cardiopathy syndrome | Potter sequence cleft lip and palate cardiopathy syndrome (disorder) | Thomas syndrome SNOMEDCT_US_2016_09_01:Thomas syndrome has characteristics of renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. MSH2017_2016_08_12:C536514|SNOMEDCT_US_2016_09_01:716740009 C1861848 Paragangliomas 4 CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS | Carotid Body Tumors and Multiple Extraadrenal Pheochromocytomas | PARAGANGLIOMA, FAMILIAL MALIGNANT | PARAGANGLIOMAS 4 | PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL | PGL4 | PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA | PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL | Paraganglioma, Familial Malignant | Paragangliomas 4 | Paragangliomas, Hereditary Extraadrenal | Pheochromocytoma, Extraadrenal, and Cervical Paraganglioma | Pheochromocytoma, Familial Extraadrenal MSH2017_2016_08_12:C565335|OMIM2016_04_17:115310|OMIM2016_04_17:185470 C4280368 Hypotrophic cheekbone Hypotrophic cheekbone | Hypotrophic zygomatic bone HPO2016_07_04:HP:0010669 C0153066 Murray valley encephalitis Australian X disease | Australian X; disease | Australian arboencephalitis | Australian encephalitis | Australian encephalitis (diagnosis) | Australian; X disease | Australian; arboencephalitis | Australian; encephalitis | Encephalitis australia | MVE | MVE - Murray Valley encephalitis | Murray River encephalitis | Murray Valley encephalitis | Murray Valley encephalitis (diagnosis) | Murray Valley-encephalitis | Murray valley encephalitis | Murray valley encephalitis (MVE) | Murray valley encephalitis (disorder) | X disease; Australian | arboencephalitis; Australian | australia encephalitis | disease (or disorder); Australian X | encephalitis; Australian | encephalitis; Murray Valley | murray valley encephalitis | mve ICD10CM_2017:A83.4|ICD9CM_2014:062.4|SNOMEDCT_US_2016_09_01:66454007 C4025049 Distal tapering femur Distal tapering femur | Tapering of outermost end of thighbone HPO2016_07_04:HP:0006408 C1862147 Medially deviated second toe Medially deviated second toe HPO2016_07_04:Medial deviation of the second toe. [HPO:probinson] HPO2016_07_04:HP:0008096|OMIM2016_04_17:MTHU019280 C0740842 Aids related illness AIDS RELATED ILLNESS | AIDS illness related | AIDS illnesses related | AIDS related illness C1516435 Cervical verrucous carcinoma Cervical Verrucous Carcinoma NCI2016_02D:A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present. C0152232 Decapitation DECAPITATION | Decapitation | Decapitation [Disease/Finding] | Decapitations | avulsion; head, complete | decapitation | head; avulsion, complete MSH2017_2016_08_12:Traumatic or experimentally induced separation of the head from the body in an animal or human. | NCI2016_02D:A method of euthanization whereby a subject's head is removed from the body. | NCI2016_CDISC_1602D:A method of euthanasia whereby a subject's head is removed from the body. MSH2017_2016_08_12:D049248 C3489413 Lipomatosis, multiple LIPO | LIPOMA | LIPOMATOSIS, MULTIPLE | Lipomatosis, Multiple MSH2017_2016_08_12:D008067|OMIM2016_04_17:151900 C0028961 Oliguria Decreased Urine Output | Decreased urine output | Decreased urine output (finding) | Decreased urine volume | LOW URINE OUTPUT | OLIGURIA | Oligouria | Oliguria | Oliguria (finding) | Oliguria [Disease/Finding] | Oligurias | Passes too little urine | URINATION DECREASE | URINE OUTPUT DECREASED | URINE PRODUCTION SCANTY | URINE VOLUME DEFICIENT | Urinary output diminished | Urinary production scanty | Urinary volume deficient | Urine output low | Urine production scanty | Urine volume decreased | Urine volume deficient | Urine volume, decreased | VOLUME URINE DECREASED | Volume urine decreased | [D]Oliguria | [D]Oliguria (context-dependent category) | [D]Oliguria (situation) | decrease urination | decreased output urine | decreased urine output | low urine output | oligouria | oliguria | oliguria (diagnosis) | urine output decreased HPO2016_07_04:Low output of urine, clinically classified as an output below 300-500ml/day. [HPO:sdoelken] | MSH2017_2016_08_12:Decreased URINE output that is below the normal range. Oliguria can be defined as urine output of less than or equal to 0.5 or 1 ml/kg/hr depending on the age. | NCI2016_02D:Abnormally low urine output. | NCI2016_NICHD_1602D:Abnormally low urine output. HPO2016_07_04:HP:0100520|MSH2017_2016_08_12:D009846|SNOMEDCT_US_2016_09_01:139461002|SNOMEDCT_US_2016_09_01:158478008|SNOMEDCT_US_2016_09_01:207181002|SNOMEDCT_US_2016_09_01:718403007|SNOMEDCT_US_2016_09_01:83128009 C1864954 Hyperinsulinemia, fasting Fasting hyperinsulinemia | High blood insulin levels while fasting | Hyperinsulinemia, fasting HPO2016_07_04:An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. [HPO:probinson] HPO2016_07_04:HP:0008283|OMIM2016_04_17:MTHU000417 C0280394 Laryngeal verrucous carcinoma, stage i Laryngeal verrucous carcinoma stage I | Stage I Laryngeal Verrucous Carcinoma | Stage I Laryngeal Verrucous Carcinoma AJCC v6 | Stage I Laryngeal Verrucous Carcinoma AJCC v7 | Stage I Larynx Verrucous Carcinoma | Stage I Verrucous Carcinoma of Larynx | Stage I Verrucous Carcinoma of the Larynx | laryngeal verrucous carcinoma, stage I | larynx verrucous carcinoma, stage I | stage I verrucous carcinoma of the larynx | verrucous carcinoma of the larynx, stage I NCI2016_02D:Stage I includes: T1, N0, M0. T1: (Supraglottis) Tumor limited to one subsite of supraglottis with normal vocal cord mobility. (Glottis) Tumor limited to the vocal cord(s) (may involve anterior or posterior commissure) with normal mobility. (Subglottis) Tumor limited to the subglottis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) C1969783 Persistent hyperplastic primary vitreous, autosomal recessive PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE | PHPVAR | Persistent Hyperplastic Primary Vitreous, Autosomal Recessive MSH2017_2016_08_12:C566966|OMIM2016_04_17:221900|OMIM2016_04_17:609875 C0405124 Nuchal cord Cord Entanglements, Fetal | Cord around neck | Cord round neck | Cord round neck (disorder) | Cord, Nuchal | Fetal Cord Entanglement | Fetal Cord Entanglements | Nuchal Cord | Nuchal Cord [Disease/Finding] | Nuchal cord | Umbilical cord around neck | Umbilical cord around neck (disorder) | around cord neck umbilical | cord around neck | cord nuchal | cords nuchal | nuchal cord | nuchal cord at delivery | nuchal cord at delivery (physical finding) | nuchal umbilical cord | nuchal umbilical cord (diagnosis) | nuchal umbilical cord (physical finding) | umbilical cord around neck HPO2016_07_04:A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times. [HPO:probinson] | MSH2017_2016_08_12:A complication of pregnancy in which the UMBILICAL CORD wraps around the fetal neck once or multiple times. In some cases, cord entanglement around fetal neck may not affect pregnancy outcome significantly. In others, the nuchal cord may lead to restricted fetal blood flow, oxygen transport, fetal development, fetal movement, and complicated delivery at birth. | NCI2016_02D:An umbilical cord that has become looped around the fetus's neck from movement in utero.(NICHD) | NCI2016_NICHD_1602D:An umbilical cord that has become looped around the fetus's neck from movement in utero. HPO2016_07_04:HP:0012498|MSH2017_2016_08_12:D053589|SNOMEDCT_US_2016_09_01:302929008|SNOMEDCT_US_2016_09_01:7202005 C0021828 Intestinal atresia Apple Peel Intestinal Atresia | Apple Peel Syndrome | Apple Peel Syndromes | Apple peel syndrome | Apple-Peel Intestinal Atresia | Apple-Peel Intestinal Atresias | Atresia of intestine NOS | Atresia of the Intestine | Atresia, Apple-Peel Intestinal | Atresia, Congenital Intestinal | Atresia, Intestinal | Atresias, Apple-Peel Intestinal | Atresias, Congenital Intestinal | Congenital Intestinal Atresia | Congenital Intestinal Atresias | Congenital intestinal atresia | Intestinal Atresia | Intestinal Atresia [Disease/Finding] | Intestinal Atresia, Apple-Peel | Intestinal Atresia, Congenital | Intestinal Atresias, Apple-Peel | Intestinal Atresias, Congenital | Intestinal atresia | Intestinal atresia NOS | atresia intestine | atresia; bowel | bowel; atresia | intestinal atresia | intestine atresia HPO2016_07_04:An abnormal closure, or atresia of the tubular structure of the intestine. [HPO:probinson] | MSH2017_2016_08_12:Congenital obliteration of the lumen of the intestine, with the ILEUM involved in 50% of the cases and the JEJUNUM and DUODENUM following in frequency. It is the most frequent cause of INTESTINAL OBSTRUCTION in NEWBORNS. (From Stedman, 25th ed) | NCI2016_02D:A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine. HPO2016_07_04:HP:0011100|ICD10CM_2017:Q41.1|MSH2017_2016_08_12:D007409|OMIM2016_04_17:MTHU049018 C2700406 Scoliosis, idiopathic, susceptibility to, 1 (finding) ADOLESCENT IDIOPATHIC SCOLIOSIS | ADOLESCENT ISOLATED SCOLIOSIS | AIS | IS1 | SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding) | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 1 OMIM2016_04_17:181800 C0410226 Congenital myotonic dystrophy Congenital Myotonic Dystrophies | Congenital Myotonic Dystrophy | Congenital myotonic dystrophy | Congenital myotonic dystrophy (disorder) | Dystrophies, Congenital Myotonic | Dystrophy, Congenital Myotonic | Myotonic Dystrophies, Congenital | Myotonic Dystrophy, Congenital NCI2016_02D:Myotonic dystrophy that is present at birth. MSH2017_2016_08_12:D009223|SNOMEDCT_US_2016_09_01:240104008 C0279659 Adenocarcinoma of the extrahepatic bile duct Adenocarcinoma of Extrahepatic Bile Duct | Adenocarcinoma of the Extrahepatic Bile Duct | Extrahepatic Bile Duct Adenocarcinoma | adenocarcinoma of extrahepatic bile duct | adenocarcinoma of extrahepatic bile duct (diagnosis) | adenocarcinoma of the extrahepatic bile duct | bile duct cancer, extrahepatic, adenocarcinoma | extrahepatic bile duct cancer, adenocarcinoma | extrahepatic bile duct, adenocarcinoma of the NCI2016_02D:An adenocarcinoma arising from the epithelium of the extrahepatic bile ducts. Signs and symptoms include abdominal pain, anorexia, jaundice, pruritus, nausea and vomiting, and weight loss. C0472786 Methemoglobin reductase deficiency METHEMOGLOBIN REDUCTASE DEFICIENCY | Methaemoglobin reductase deficiency | Methemoglobin Reductase Deficiency | Methemoglobin reductase deficiency | Methemoglobin reductase deficiency (disorder) | NADH-methemoglobin reductase deficiency disease | NADPH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY | NADPH-Dependent Methemoglobin Reductase Deficiency | NADPH-dependent methemoglobin reductase deficiency | NADPH-reductase deficiency | TPNH-METHEMOGLOBIN REDUCTASE DEFICIENCY | TPNH-Methemoglobin Reductase Deficiency NCI2016_02D:Less than the necessary amount of the enzyme that converts methemoglobin into hemoglobin. MSH2017_2016_08_12:C563171|OMIM2016_04_17:250700|SNOMEDCT_US_2016_09_01:234397008 C0238409 Kidney, pelvis, carcinoma, squamous cell Epidermoid Carcinoma of Kidney Pelvis | Epidermoid Carcinoma of Renal Pelvis | Epidermoid Carcinoma of the Kidney Pelvis | Epidermoid Carcinoma of the Renal Pelvis | KIDNEY, PELVIS, CARCINOMA, SQUAMOUS CELL | Kidney Pelvis Epidermoid Carcinoma | Kidney Pelvis Squamous Cell Carcinoma | RENAL CANCER, PELVIS EPIDERMOID CARCINOMA | RENAL PELVIS EPIDERMOID CARCINOMA | Renal Pelvis Epidermoid Carcinoma | Renal Pelvis Squamous Cell Carcinoma | Squamous Cell Carcinoma of Kidney Pelvis | Squamous Cell Carcinoma of Renal Pelvis | Squamous Cell Carcinoma of the Kidney Pelvis | Squamous Cell Carcinoma of the Renal Pelvis | squamous cell carcinoma of renal pelvis | squamous cell carcinoma of renal pelvis (diagnosis) C0423705 Other specified trigeminal neuralgia Other specified trigeminal neuralgia | Other specified trigeminal neuralgia (disorder) | Trigeminal neuralgia OS SNOMEDCT_US_2016_09_01:193089003 C0029630 Other heart block nos Other heart block | Other heart block (disorder) | Other heart block NOS | Other heart block NOS (disorder) ICD9CM_2014:426.6|SNOMEDCT_US_2016_09_01:195053008|SNOMEDCT_US_2016_09_01:195056000 C0023817 Hyperlipoproteinemia type i BUERGER-GRUETZ SYNDROME | Burger Grutz Syndrome | Burger Grutz syndrome | Burger-Grutz Syndrome | Burger-Grutz Syndromes | Burger-Grutz syndrome | B眉rger-Gr眉tz | CHYLOMICRONEMIA, FAMILIAL | Chylomicronemia, Familial | Chylomicronemias, Familial | Deficiencies, Familial LPL | Deficiencies, LIPD | Deficiencies, Lipase D | Deficiencies, Lipoprotein Lipase | Deficiency, Familial LPL | Deficiency, LIPD | Deficiency, Lipase D | Deficiency, Lipoprotein Lipase | ENDOGENOUS HYPERTRIGLYCERIDEMIA | Endogenous hypertriglyceridaemia | Endogenous hypertriglyceridemia | Essential Familial Hyperlipemia | Essential Familial Hyperlipemias | FAMILIAL HYPERCHYLOMICRONEMIA | Familial Chylomicronemia | Familial Chylomicronemias | Familial Hyperchylomicronemia | Familial Hyperchylomicronemias | Familial Hyperlipemia, Essential | Familial Hyperlipemias, Essential | Familial Hyperlipoproteinemia Type 1 | Familial LPL Deficiencies | Familial LPL Deficiency | Familial LPL deficiency | Familial Lipoprotein Lipase Deficiency | Familial fat-induced hypertriglyceridaemia | Familial fat-induced hypertriglyceridemia | Familial hyperchylomicronaemia | Familial hyperchylomicronemia | Familial hyperchylomicronemia (disorder) | Familial hyperlipoproteinaemia, type I | Familial hyperlipoproteinemia, type I | Familial lipoprotein lipase deficiency | Familial lipoprotein lipase deficiency (disorder) | Familial lipoprotein lipase deficiency (disorder) [Ambiguous] | Familial lipoprotein lipase deficiency with type I phenotype | Familial lipoprotein lipase deficiency with type I phenotype (disorder) | Familial type I hyperlipoproteinaemia | Familial type I hyperlipoproteinemia | Frederickson type I hyperlipidemia | Frederickson type I hyperlipidemia (diagnosis) | Fredrickson type I hyperlipoproteinaemia | Fredrickson type I hyperlipoproteinemia | Fredrickson type I hyperlipoproteinemia (disorder) | Fredrickson type I lipaemia | Fredrickson type I lipemia | Fredrickson type I or V hyperlipoproteinemia | Fredrickson's hyperlipoproteinemia, type I or V | Fredrickson; type I hyperlipoproteinemia | HYPERCHYLOMICRONEMIA, FAMILIAL | HYPERLIPEMIA, ESSENTIAL FAMILIAL | HYPERLIPEMIA, IDIOPATHIC FAMILIAL | HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE | HYPERLIPEMIA, RETENTION | HYPERLIPOPROTEINEMIA TYPE I | HYPERLIPOPROTEINEMIA, TYPE I | HYPERLIPOPROTEINEMIA, TYPE IA | Hepatosplenomegalic lipoidosis | Hypercholesterinaemic xanthomatosis | Hypercholesterinemic xanthomatosis | Hyperchylomicronaemia | Hyperchylomicronemia | Hyperchylomicronemia, Familial | Hyperchylomicronemias, Familial | Hyperlipemia, Essential Familial | Hyperlipemia, Idiopathic, Burger-Grutz Type | Hyperlipemias, Essential Familial | Hyperlipidemia, Group D | Hyperlipidemia, group D | Hyperlipoproteinaemia, type I | Hyperlipoproteinemia Type I | Hyperlipoproteinemia Type I [Disease/Finding] | Hyperlipoproteinemia Type Ia | Hyperlipoproteinemia Type Ias | Hyperlipoproteinemia Type Is | Hyperlipoproteinemia, Frederickson type I | Hyperlipoproteinemia, Type I | Hyperlipoproteinemia, Type Ia | Hyperlipoproteinemia, type I | Hyperlipoproteinemias, Type I | Hyperlipoproteinemias, Type Ia | LIPASE D DEFICIENCY | LIPD DEFICIENCY | LIPD Deficiencies | LIPD Deficiency | LIPOPROTEIN LIPASE DEFICIENCY | LPL DEFICIENCY | LPL Deficiencies, Familial | LPL Deficiency, Familial | Lipase D Deficiencies | Lipase D Deficiency | Lipase Deficiencies, Lipoprotein | Lipoprotein Lipase Deficiencies | Lipoprotein Lipase Deficiency | Lipoprotein Lipase Deficiency, Familial | Mixed hyperglyceridemia | Primary hyperchylomicronaemia | Primary hyperchylomicronemia | Syndrome, Burger-Grutz | Syndromes, Burger-Grutz | Type I Hyperlipoproteinemia | Type I Hyperlipoproteinemias | Type I hyperlipoproteinaemia | Type I hyperlipoproteinemia | Type Ia Hyperlipoproteinemia | Type Ia Hyperlipoproteinemias | burger-grutz syndrome | endogenous hypertriglyceridemia | familial hyperchylomicronemia | familial hyperlipoproteinemia type I | familial lipoprotein lipase deficiency | familial lipoprotein lipase deficiency (diagnosis) | hyperchylomicronemia | hyperchylomicronemia (diagnosis) | hyperglyceridemia; mixed | hyperlipidemia; group D | hyperlipoproteinemia type I | hyperlipoproteinemia type I (diagnosis) | hyperlipoproteinemia type i | hyperlipoproteinemia; Fredrickson type I | mixed; hyperglyceridemia | type i hyperlipoproteinemia CSP2006:rare familial condition characterized by massive chylomicronemia and decreased levels of other lipoproteins; due to deficiency of lipoprotein lipase, an alkaline triglyceride hydrolase which catalyzes an important step in the extrahepatic removal of triglyceride-rich lipoproteins from the blood. | MSH2017_2016_08_12:An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing. | NCI2016_02D:A genetic disorder of lipoprotein metabolism caused by mutations in the LPL and apolipoprotein (apo) C-II genes. It is characterized by increased levels of chylomicrons and triglycerides in the blood. ICD10CM_2017:E78.3|ICD9CM_2014:272.3|MSH2017_2016_08_12:D008072|OMIM2016_04_17:238600|OMIM2016_04_17:609708|OMIM2016_04_17:MTHU047413|SNOMEDCT_US_2016_09_01:190781009|SNOMEDCT_US_2016_09_01:238039006|SNOMEDCT_US_2016_09_01:238086005|SNOMEDCT_US_2016_09_01:267435002|SNOMEDCT_US_2016_09_01:275598004|SNOMEDCT_US_2016_09_01:34171006|SNOMEDCT_US_2016_09_01:403827000 C0744870 Hepatomegaly congestive HEPATOMEGALY CONGESTIVE C0265286 Dyggve-melchior-clausen syndrome DMC | DYGGVE-MELCHIOR-CLAUSEN DISEASE | Dyggve-Melchior-Clausen Disease | Dyggve-Melchior-Clausen Syndrome | Dyggve-Melchior-Clausen dysplasia | Dyggve-Melchior-Clausen syndrome | Dyggve-Melchior-Clausen syndrome (disorder) NCI2016_02D:A rare, autosomal recessive inherited syndrome caused by mutations in the DYM gene. It is characterized by abnormal skeletal development, microcephaly, and intellectual disability. MSH2017_2016_08_12:C535726|OMIM2016_04_17:223800|OMIM2016_04_17:607461|SNOMEDCT_US_2016_09_01:82699004 C0752304 Hypoxic-ischemic encephalopathy Anoxic encephalopathy | Encephalopathies, Hypoxic-Ischemic | Encephalopathies, Ischemic-Hypoxic | Encephalopathy, Hypoxic Ischemic | Encephalopathy, Hypoxic-Ischemic | Encephalopathy, Ischemic-Hypoxic | HIE | Hypoxic Ischemic Encephalopathy | Hypoxic ischaemic brain injury | Hypoxic ischaemic encephalopathy | Hypoxic ischemic brain injury | Hypoxic ischemic encephalopathy | Hypoxic ischemic encephalopathy (disorder) | Hypoxic ischemic encephalopathy [HIE] | Hypoxic ischemic encephalopathy [HIE], unspecified | Hypoxic-Ischemic Encephalopathies | Hypoxic-Ischemic Encephalopathy | Hypoxic-ischaemic encephalopathy | Hypoxic-ischemic encephalopathy | Hypoxic-ischemic encephalopathy (HIE) | Hypoxic-ischemic encephalopathy (disorder) | Hypoxic-ischemic encephalopathy, unspecified | Ischemic Hypoxic Encephalopathy | Ischemic-Hypoxic Encephalopathies | Ischemic-Hypoxic Encephalopathy | encephalopathy hypoxic ischemic | encephalopathy hypoxic-ischemic | hypoxic ischemic brain injury | hypoxic ischemic encephalopathy | hypoxic-ischemic encephalopathy | hypoxic-ischemic encephalopathy (diagnosis) NCI2016_02D:Ischemic brain damage in which the entire brain is deprived of oxygen. It may be fatal or lead to long term disabilities including developmental delays, intellectual disability, and seizures. | NCI2016_NICHD_1602D:Injury to the central nervous system that occurs when there is insufficient delivery of oxygen to all or part of the brain. ICD10CM_2017:P91.6|ICD10CM_2017:P91.60|ICD9CM_2014:768.7|ICD9CM_2014:768.70|MSH2017_2016_08_12:D020925|SNOMEDCT_US_2016_09_01:703300001 C1854335 Epilepsy, nocturnal frontal lobe, type 3 ENFL3 | EPILEPSY, NOCTURNAL FRONTAL LOBE, 3 | Epilepsy, Nocturnal Frontal Lobe, Type 3 MSH2017_2016_08_12:C565334|OMIM2016_04_17:118507|OMIM2016_04_17:605375 C3276324 Fifth metacarpal notched on ulnar side Fifth metacarpal notched on ulnar side | Fifth metacarpal with ulnar notch HPO2016_07_04:Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger). [HPO:probinson] HPO2016_07_04:HP:0005900|OMIM2016_04_17:MTHU030598 C0155415 Acute serous otitis media Acute non-suppurative otitis media - serous | Acute non-suppurative otitis media - serous (disorder) | Acute serous otitis media | Acute serous otitis media (disorder) | Acute serous otitis media (disorder) [Ambiguous] | Acute serous otitis media, unspecified ear | Otitis media serous acute | Otitis media serous acute NOS | acute serous otitis media | acute serous otitis media (diagnosis) | otitis; media, acute, serous | otitis; media, serous, acute ICD10CM_2017:H65.0|ICD10CM_2017:H65.00|ICD9CM_2014:381.01|SNOMEDCT_US_2016_09_01:11957006|SNOMEDCT_US_2016_09_01:194240006 C3838860 Bartter syndrome type 4 Bartter syndrome type 4 | Bartter syndrome type 4 (disorder) | Bartter's syndrome type 4 SNOMEDCT_US_2016_09_01:700112007 C0155503 Vertigo central origin CNS Origin Vertigo | CNS Origin Vertigos | Central Nervous System Origin Vertigo | Central Origin Vertigo | Central Origin Vertigos | Central vestibular vertigo | Origin Vertigo, CNS | Origin Vertigo, Central | Origin Vertigos, CNS | Origin Vertigos, Central | VERTIGO CENTRAL ORIGIN | VERTIGO CNS ORIGIN | Vertigo CNS origin | Vertigo central nervous system origin | Vertigo of central origin | Vertigo of central origin (disorder) | Vertigo of central origin NOS | Vertigo of central origin NOS (disorder) | Vertigo of central origin, unspecified ear | Vertigo, CNS Origin | Vertigo, Central Nervous System Origin | Vertigo, Central Origin | Vertigos, CNS Origin | Vertigos, Central Origin | central origin vertigo | central; vertigo | labrynthitis | vertigo of central origin | vertigo of central origin (diagnosis) | vertigo; central ICD10CM_2017:H81.4|ICD10CM_2017:H81.49|ICD9CM_2014:386.2|MSH2017_2016_08_12:D014717|SNOMEDCT_US_2016_09_01:194362009|SNOMEDCT_US_2016_09_01:20425006|SNOMEDCT_US_2016_09_01:38403006 C1963229 Retinal detachment adverse event Retinal Detachment Adverse Event | Retinal detachment C0220766 Congenital hypoplasia of adrenal gland ADRENAL HYPOPLASIA, CONGENITAL | AHC | Adrenal hypoplasia, congenital | CAH - Congenital adrenal hypoplasia | CYTOMEGALIC ADRENOCORTICAL HYPOPLASIA | Congenital Adrenal Gland Hypoplasia | Congenital Adrenal Hypoplasia | Congenital adrenal gland hypoplasia | Congenital adrenal hypoplasia | Congenital adrenal hypoplasia syndrome | Congenital hypoplasia of adrenal gland | Congenital hypoplasia of adrenal gland (disorder) | Congenital small adrenal gland | congenital adrenal hypoplasia HPO2016_07_04:A type of adrenal hypoplasia with congenital onset. [HPO:probinson] | NCI2016_02D:A rare genetic disorder that affects the adrenal gland. It usually presents in infancy with signs and symptoms of adrenal insufficiency. If it is not recognized and treated promptly, it may be lethal. HPO2016_07_04:HP:0008244|OMIM2016_04_17:300200|OMIM2016_04_17:300473|OMIM2016_04_17:MTHU032718|SNOMEDCT_US_2016_09_01:93235007 C1835009 Mesomelic dysplasia, kantaputra type Kantaputra Gorlin syndrome | MDK | MESOMELIC DYSPLASIA WITH ANKLE, CARPAL, AND TARSAL SYNOSTOSIS | MESOMELIC DYSPLASIA, KANTAPUTRA TYPE | MESOMELIC DYSPLASIA, THAI TYPE | MMDK | Mesomelic dysplasia with ankle, carpal, and tarsal synostosis | Mesomelic dysplasia, Kantaputra type | Mesomelic dysplasia, Thai type MSH2017_2016_08_12:C535547|OMIM2016_04_17:156232 C0265263 Femoral hypoplasia - unusual facies syndrome FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME | FEMORAL-FACIAL SYNDROME | FFS | FHUFS | Femoral Hypoplasia-Unusual Facies Syndrome | Femoral dysgenesis, bilateral-Robin anomaly | Femoral facial syndrome | Femoral hypoplasia - unusual facies syndrome | Femoral hypoplasia - unusual facies syndrome (disorder) | Femoral hypoplasia unusual facies syndrome | Femoral-Facial Syndrome MSH2017_2016_08_12:C537916|OMIM2016_04_17:134780|SNOMEDCT_US_2016_09_01:13280000 C0220748 Cartilage-hair hypoplasia CARTILAGE-HAIR HYPOPLASIA | CHH | Cartilage Hair Hypoplasia | Cartilage Hair Syndrome | Cartilage hair syndrome | Cartilage-hair hypoplasia | Cartilage-hair hypoplasia syndrome | METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPE | McKusick Metaphyseal Chondrodysplasia Syndrome | McKusick's metaphyseal chondrodysplasia syndrome | Metaphyseal Chondrodysplasia, Recessive Type | Metaphyseal chondrodysplasia, McKusick type | Metaphyseal chondrodysplasia, McKusick type (diagnosis) | Metaphyseal chondrodysplasia, McKusick type (disorder) | osteochondrodysplasia metaphyseal dysplasia, mckusick type NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutation in the gene for RNAase RMRP. It is characterized by short-limb dwarfism, presence of fine sparse hair, and T-and B-cell immunodeficiency. MSH2017_2016_08_12:C535916|OMIM2016_04_17:157660|OMIM2016_04_17:250250|SNOMEDCT_US_2016_09_01:234421004|SNOMEDCT_US_2016_09_01:7720002 C1527249 Colorectal cancer COLON RECTAL CANCER | COLORECTAL CANCER | CRC | Cancer, Colorectal | Cancers, Colorectal | Colo-rectal cancer | Colon/rectal cancer | Colorectal Cancer | Colorectal Cancers | Colorectal cancer | Colorectal cancer NOS | colo-rectal cancer | colon rectal cancer | colorectal cancer | colorectal cancer (diagnosis) | colorectal cancers MEDLINEPLUS_20151021:The colon and rectum are part of the large intestine. Colorectal cancer occurs when tumors form in the lining of the large intestine. It is common in both men and women. The risk of developing colorectal cancer rises after age 50. You're also more likely to get it if you have colorectal polyps, a family history of colorectal cancer, ulcerative colitis or Crohn's disease, eat a diet high in fat, or smoke.
Symptoms of colorectal cancer include
Because you may not have symptoms at first, it's important to have screening tests. Everyone over 50 should get screened. Tests include colonoscopy and tests for blood in the stool. Treatments for colorectal cancer include surgery, chemotherapy, radiation, or a combination. Surgery can usually cure it when it is found early.
NIH: National Cancer Institute
MSH2017_2016_08_12:D015179|OMIM2016_04_17:114500|OMIM2016_04_17:172411|OMIM2016_04_17:191170|OMIM2016_04_17:516000|OMIM2016_04_17:516004|OMIM2016_04_17:516020|OMIM2016_04_17:516030|OMIM2016_04_17:516040|OMIM2016_04_17:MTHU036783 C0085920 Brachial neuralgia Brachial Neuralgia | Brachial Neuralgias | Brachial neuralgia | Brachial plexus neuralgia | Brachial plexus neuralgia (disorder) | Neuralgia, Brachial | Neuralgias, Brachial | brachial neuralgia MSH2017_2016_08_12:D020968|SNOMEDCT_US_2016_09_01:76691009 C0263373 Keratosis spinulosus Keratosis spinulosa | Keratosis spinulosus | Lichen spinulosus | Lichen spinulosus (disorder) SNOMEDCT_US_2016_09_01:205588001|SNOMEDCT_US_2016_09_01:4859009 C4022544 Reduced red cell adenosine deaminase activity Reduced red cell adenosine deaminase activity HPO2016_07_04:Decrease in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. [HPO:probinson] HPO2016_07_04:HP:0030273 C1836057 Muscle fiber splitting Fiber splitting | Fibre splitting | Muscle fiber splitting | Muscle fibre splitting HPO2016_07_04:Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. [pmid:6123177] HPO2016_07_04:HP:0003555|OMIM2016_04_17:MTHU000724|OMIM2016_04_17:MTHU042859 C0042345 Varicosity Phlebectasia | Uneven venous ectasia | Uneven venous ectasia (morphologic abnormality) | VARICES | VARICOSE VEIN | VARICOSE VEINS | VARICOSITY | VEIN VARICOSE | VV - Varicose veins | VVs - Varicose veins | Varices | Varices (disorder) | Varices [Ambiguous] | Varicose Vein | Varicose Veins | Varicose Veins [Disease/Finding] | Varicose vein | Varicose veins | Varicose veins NOS | Varicose veins NOS (disorder) | Varicosities | Varicosity | Varix | Varix (morphologic abnormality) | Varix, NOS | Vein varicose | Vein, Varicose | Veins, Varicose | Venous ectasia | Venous ectasia (morphologic abnormality) | Venous varices | Venous varices (disorder) | Venous varicosities | enlarged tortuous blood vessel | phlebectasia | varices | varicose vein | varicose veins | varicose veins (diagnosis) | varicose veins lower extremities | varicosities | varix | venous ectasia CSP2006:dilated tortuous vein, usually in subcutaneous tissues of the leg; incompetency of venous valves is associated. | HPO2016_07_04:Enlarged and tortuous veins. [HPO:probinson] | MEDLINEPLUS_20151021:Varicose veins are swollen, twisted veins that you can see just under the skin. They usually occur in the legs, but also can form in other parts of the body. Hemorrhoids are a type of varicose vein.
Your veins have one-way valves that help keep blood flowing toward your heart. If the valves are weak or damaged, blood can back up and pool in your veins. This causes the veins to swell, which can lead to varicose veins.
Varicose veins are very common. You are more at risk if you are older, a female, obese, don't exercise or have a family history. They can also be more common in pregnancy.
Doctors often diagnose varicose veins from a physical exam. Sometimes you may need additional tests.
Exercising, losing weight, elevating your legs when resting, and not crossing them when sitting can help keep varicose veins from getting worse. Wearing loose clothing and avoiding long periods of standing can also help. If varicose veins are painful or you don't like the way they look, your doctor may recommend procedures to remove them.
NIH: National Heart, Lung, and Blood Institute
| MSH2017_2016_08_12:Enlarged and tortuous VEINS. | NCI2016_02D:A vascular abnormality characterized by the presence of enlarged and tortuous veins, particularly in the legs. | NCI2016_NCI-GLOSS_1602D:A condition in which a vein, most often in the legs, becomes permanently enlarged, twisted, and painful. This may be caused by valves in the vein that don't work properly or by weakness in the vein walls. HPO2016_07_04:HP:0002619|ICD10CM_2017:I83.90|MSH2017_2016_08_12:D014648|OMIM2016_04_17:192200|OMIM2016_04_17:MTHU010058|OMIM2016_04_17:MTHU034647|OMIM2016_04_17:MTHU037165|SNOMEDCT_US_2016_09_01:128060009|SNOMEDCT_US_2016_09_01:12856003|SNOMEDCT_US_2016_09_01:155468006|SNOMEDCT_US_2016_09_01:155482006|SNOMEDCT_US_2016_09_01:234053000|SNOMEDCT_US_2016_09_01:266331000|SNOMEDCT_US_2016_09_01:276504003|SNOMEDCT_US_2016_09_01:399989005 C1304202 Cholinergic angio-oedema Cholinergic angio-oedema | Cholinergic angioedema | Cholinergic angioedema (disorder) SNOMEDCT_US_2016_09_01:402411005 C0405154 Spasm of uterus or cervix uteri Spasm of uterus or cervix uteri | Spasm of uterus or cervix uteri (finding) | Uterine or cervical spasm | Uterine or cervical spasm (disorder) SNOMEDCT_US_2016_09_01:199836007|SNOMEDCT_US_2016_09_01:237317002 C3809672 Mental retardation, autosomal recessive 37 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 | MRT37 OMIM2016_04_17:615493 C0268529 Proline dehydrogenase deficiency HPI | HYPERPROLINEMIA, TYPE I | HYRPRO1 | Hyperprolinaemia type I | Hyperprolinaemia, type I | Hyperprolinemia type I | Hyperprolinemia, type I | PROLINE OXIDASE DEFICIENCY | Proline dehydrogenase deficiency | Proline dehydrogenase deficiency (disorder) | Proline oxidase deficiency | type I hyperprolinemia | type I hyperprolinemia (diagnosis) OMIM2016_04_17:239500|OMIM2016_04_17:606810|SNOMEDCT_US_2016_09_01:61071003 C0241772 Reflex, deep tendon, absent ABSENT DEEP TENDON REFLEXES | Absent deep tendon reflexes | DEEP TENDON REFLEX ABSENCE | DEEP TENDON REFLEXES ABSENT | Deep tendon reflexes absent | Loss of deep tendon reflexes | Reflex, Deep Tendon, Absent HPO2016_07_04:HP:0001284|MSH2017_2016_08_12:D012021|OMIM2016_04_17:MTHU009354|OMIM2016_04_17:MTHU012678 C1836254 Holoprosencephaly 8 HOLOPROSENCEPHALY 8 | HPE8 | Holoprosencephaly 8 MSH2017_2016_08_12:C563723|OMIM2016_04_17:609408 C1285186 Complement component deficiency Complement component deficiency | Complement component deficiency (disorder) | complement component deficiency (diagnosis) SNOMEDCT_US_2016_09_01:363009005 C0085423 Gram-negative bacterial infections Bacterial Infection, Gram-Negative | Bacterial Infections, Gram Negative | Bacterial Infections, Gram-Negative | Bacterial infection with gram-negative bacteria NOS | Disease caused by Gram-negative bacteria | Disease caused by Gram-negative bacteria (disorder) | Disease due to Gram-negative bacteria | Disease due to Gram-negative bacteria (disorder) | Gram Negative Bacterial Infections | Gram-Negative Bacterial Infection | Gram-Negative Bacterial Infections | Gram-Negative Bacterial Infections [Disease/Finding] | Gram-negative bacilli; infection | Gram-negative bacteria infection | Gram-negative bacteria infection (diagnosis) | Gram-negative bacterial infection NOS | Gram-negative bacterial infections | Infection, Gram-Negative Bacterial | Infections, Gram Negative Bacterial | Infections, Gram-Negative Bacterial | infection; gram-negative bacilli MSH2017_2016_08_12:Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method. MSH2017_2016_08_12:D016905|SNOMEDCT_US_2016_09_01:371583007 C0086445 Idiopathic membranous glomerulonephritis Glomerulonephritides, Idiopathic Membranous | Glomerulonephritis, Idiopathic Membranous | Idiopathic Membranous Glomerulonephritides | Idiopathic Membranous Glomerulonephritis | Idiopathic Membranous Nephropathy | Membranous Glomerulonephritides, Idiopathic | Membranous Glomerulonephritis, Idiopathic | Membranous Nephropathy - Idiopathic | Membranous Nephropathy, Idiopathic | Nephropathy, Idiopathic Membranous NCI2016_02D:Membranous nephropathy for which no cause has been identified.(NICHD) | NCI2016_NICHD_1602D:Membranous nephropathy for which no cause has been identified. MSH2017_2016_08_12:D015433 C0024306 Lymphoma, undifferentiated Diffuse non-Hodgkin lymphoma, undifferentiated | Diffuse non-Hodgkin's lymphoma, undifferentiated | Diffuse non-Hodgkin's lymphoma, undifferentiated (disorder) | Lymphoma, Pleomorphic | Lymphoma, Undifferentiated | Lymphomas, Pleomorphic | Lymphomas, Undifferentiated | Pleomorphic Lymphoma | Pleomorphic Lymphomas | Undifferentiated (diffuse) non-Hodgkin's lymphoma | Undifferentiated Lymphoma | Undifferentiated Lymphomas | lymphoma; undifferentiated cell | undifferentiated cell; lymphoma MSH2017_2016_08_12:D008228|SNOMEDCT_US_2016_09_01:109964000 C0023283 Leishmaniasis, cutaneous Cutaneous Leishmaniases | Cutaneous Leishmaniasis | Cutaneous leishmaniasis | Cutaneous leishmaniasis (diagnosis) | Cutaneous leishmaniasis (disorder) | Leishmaniases, Cutaneous | Leishmaniasis, Cutaneous | Leishmaniasis, Cutaneous [Disease/Finding] | Leishmaniasis, cutaneous | cutaneous leishmaniasis | cutaneous; leishmaniasis | leishmaniasis cutaneous | leishmaniasis; cutaneous | leishmaniasis; skin | skin; leishmaniasis MSH2017_2016_08_12:An endemic disease that is characterized by the development of single or multiple localized lesions on exposed areas of skin that typically ulcerate. The disease has been divided into Old and New World forms. Old World leishmaniasis is separated into three distinct types according to epidemiology and clinical manifestations and is caused by species of the L. tropica and L. aethiopica complexes as well as by species of the L. major genus. New World leishmaniasis, also called American leishmaniasis, occurs in South and Central America and is caused by species of the L. mexicana or L. braziliensis complexes. | NCI2016_02D:Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas. ICD10CM_2017:B55.1|MSH2017_2016_08_12:D016773|SNOMEDCT_US_2016_09_01:240637006 C0026034 Microstomia Microstomia | Microstomia (disorder) | Microstomia [Disease/Finding] | Microstomias | Narrow mouth | Small mouth | Small oral aperture | microstomia | microstomia (diagnosis) | microstomia (physical finding) HPO2016_07_04:Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). [pmid:19125428] | MSH2017_2016_08_12:A congenital defect in which the mouth is unusually small. (Dorland, 27th ed) HPO2016_07_04:HP:0000160|ICD10CM_2017:Q18.5|ICD9CM_2014:744.84|MSH2017_2016_08_12:D008865|OMIM2016_04_17:MTHU002016|OMIM2016_04_17:MTHU036377|OMIM2016_04_17:MTHU044941|SNOMEDCT_US_2016_09_01:14582003 C0242379 Malignant neoplasm of lung CA - Lung cancer | Ca lung | Cancer of Lung | Cancer of lung | Cancer of the Lung | Cancer, Lung | Cancer, Pulmonary | Cancers, Lung | Cancers, Pulmonary | LUNG CANCER MALIGNANT | LUNG MALIGNANCY | Lung Cancer | Lung Cancers | Lung cancer | Lung cancer NOS | Lung neoplasm malignant | Lungs--Cancer | MALIGNANT LUNG NEOPLASM | Malignant Lung Neoplasm | Malignant Lung Tumor | Malignant Neoplasm of Lung | Malignant Neoplasm of the Lung | Malignant Tumor of Lung | Malignant Tumor of the Lung | Malignant neoplasm of lung | Malignant neoplasm of lung, NOS | Malignant tumor of lung | Malignant tumor of lung (disorder) | Malignant tumour of lung | Neoplasm malig;lung | Pulmonary Cancer | Pulmonary Cancers | cancer of lung | cancer of the lung | cancer pulmonary | cancers lungs | lung cancer | lung cancer (diagnosis) | lung cancers | lung malignancies | lung malignancy | lung malignant tumors | lung malignant tumours | lungs cancer | malignant lung neoplasm | malignant neoplasm lung | malignant neoplasm of lung | malignant neoplasm of lung (diagnosis) | malignant neosplasm of the lung | malignant tumor of lung | pulmonary cancer MEDLINEPLUS_20151021:Lung cancer is one of the most common cancers in the world. It is a leading cause of cancer death in men and women in the United States. Cigarette smoking causes most lung cancers. The more cigarettes you smoke per day and the earlier you started smoking, the greater your risk of lung cancer. High levels of pollution, radiation and asbestos exposure may also increase risk.
Common symptoms of lung cancer include
Doctors diagnose lung cancer using a physical exam, imaging, and lab tests. Treatment depends on the type, stage, and how advanced it is. Treatments include surgery, chemotherapy, radiation therapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells.
NIH: National Cancer Institute
| NCI2016_02D:A primary or metastatic malignant neoplasm involving the lung. MSH2017_2016_08_12:D008175|SNOMEDCT_US_2016_09_01:363358000|SNOMEDCT_US_2016_09_01:93880001 C0395005 Psychogenic polydipsia PSYCHOGENIC POLYDIPSIA | Polydipsia psychogenic | Polydipsia, Primary | Polydipsia, Psychogenic | Polydipsia, Psychogenic [Disease/Finding] | Polydipsias, Primary | Polydipsias, Psychogenic | Primary Polydipsia | Primary Polydipsias | Primary polydipsia | Psychogenic Polydipsia | Psychogenic Polydipsias | Psychogenic polydipsia | Psychogenic polydipsia (disorder) | compulsive water drinking | polydipsia psychogenic | primary polydipsia | psychogenic polydipsia | psychogenic water drinking | psychogenic water drinking (diagnosis) MSH2017_2016_08_12:A clinical disorder characterized by excessive fluid intake (polydipsia); HYPONATREMIA; and POLYURIA in SCHIZOPHRENIA and other psychiatric disorders. Impaired water metabolism in psychogenic polydipsia can result in WATER INTOXICATION. MSH2017_2016_08_12:D059607|SNOMEDCT_US_2016_09_01:15945005|SNOMEDCT_US_2016_09_01:192018009|SNOMEDCT_US_2016_09_01:82800008 C1406891 Late syphilis of central nervous system nos Late syphilis of central nervous system NOS | late; syphilitic, central nervous system | syphilis; late, central nervous system | syphilis; tertiary, central nervous system | tertiary; syphilitic, central nervous system C0080304 Vascular fistula Fistula, Vascular | Fistulas, Vascular | Vascular Fistula | Vascular Fistula [Disease/Finding] | Vascular Fistulas | vascular fistula MSH2017_2016_08_12:An abnormal passage between two or more BLOOD VESSELS, between ARTERIES; VEINS; or between an artery and a vein. MSH2017_2016_08_12:D016157 C0346210 Vulval intraepithelial neoplasia Dysplasia of vulva | Dysplasia of vulva (disorder) | Dysplasia of vulva, unspec | Dysplasia of vulva, unspecified | High Grade Dysplasia of Vulva | High Grade Dysplasia of the Vulva | High Grade VIN | High Grade Vulva Dysplasia | High Grade Vulvar Dysplasia | High Grade Vulvar Intraepithelial Neoplasia | Intraepithelial Neoplasia of Vulva | Intraepithelial Neoplasia of the Vulva | Squamous Vulvar Intraepithelial Neoplasia | VIN | VIN - Vulval intraepithelial neoplasia | Vulva Intraepithelial Neoplasia | Vulval Intraepithelial Neoplasia | Vulval intraepithelial neoplasia | Vulval intraepithelial neoplasia (VIN) | Vulval intraepithelial neoplasia (VIN) (disorder) | Vulval intraepithelial neoplasia (disorder) | Vulvar Intraepithelial Neoplasia | Vulvar dysplasia | [X]Dysplasia of vulva, unspec | [X]Dysplasia of vulva, unspecified | [X]Dysplasia of vulva, unspecified (disorder) | cancer situ vulvar | carcinoma situ vulva | dysplasia of vulva | dysplasia of vulva (diagnosis) | dysplasia vulvar | dysplasia; vulva | neoplasia; intraepithelial, vulva | vin | vulva; dysplasia | vulva; intraepithelial neoplasia | vulval intraepithelial neoplasia | vulvar cancer in situ | vulvar dysplasia NCI2016_02D:High-grade intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar intraepithelial neoplasia, usual type and vulvar intraepithelial neoplasia, differentiated type. ICD10CM_2017:N90.3|SNOMEDCT_US_2016_09_01:154639006|SNOMEDCT_US_2016_09_01:198391000|SNOMEDCT_US_2016_09_01:198394008|SNOMEDCT_US_2016_09_01:198603002|SNOMEDCT_US_2016_09_01:399382009|SNOMEDCT_US_2016_09_01:399933001|SNOMEDCT_US_2016_09_01:92802003 C4015342 Macular dystrophy, vitelliform, 4 MACULAR DYSTROPHY, VITELLIFORM, 4 | VMD4 OMIM2016_04_17:602870|OMIM2016_04_17:616151 C1868889 Constipation predominant irritable bowel syndrome Constipation predominant irritable bowel syndrome | Irritable bowel syndrome characterised by constipation | Irritable bowel syndrome characterized by constipation | Irritable bowel syndrome characterized by constipation (disorder) SNOMEDCT_US_2016_09_01:440630006 C0947912 Myasthenias Fatigable weakness | Fatigable weakness of limb muscles | Generalized muscle weakness due to defect at the neuromuscular junction | MYASTHENIA | Myasthenia | Myasthenias | Myasthenic weakness | Proximal muscle weakness due to defect at the neuromuscular junction | myasthenia | myasthenias CHV2011_02:abnormal muscular weakness or fatigue | HPO2016_07_04:A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [HPO:probinson] | PSY2004:Anomaly of the muscles, resulting in muscular debility, weakness, lack of tone, fatigue, or exhaustion. HPO2016_07_04:HP:0003473|OMIM2016_04_17:MTHU001512|OMIM2016_04_17:MTHU010953|OMIM2016_04_17:MTHU048176 C1142389 Subicteric Subicteric C0302327 Meningeal sarcoma Meningeal Sarcoma | Meningeal sarcoma | Meningeal sarcoma (disorder) | Meninges Sarcoma | Meningothelial sarcoma | Sarcoma of Meninges | Sarcoma of the Meninges | meningeal sarcoma | sarcoma of meninges | sarcoma of meninges (diagnosis) NCI2016_02D:A rare sarcoma arising from the meninges. SNOMEDCT_US_2016_09_01:277996009|SNOMEDCT_US_2016_09_01:78303004 C2713392 Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase | PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCY | Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency | Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency | Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency | Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency | Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency (disorder) MSH2017_2016_08_12:D009800|OMIM2016_04_17:309000|SNOMEDCT_US_2016_09_01:79385002 C4280367 Abnormal maturation of foot bones Abnormal maturation of foot bones HPO2016_07_04:HP:0010675 C4020868 Elevated heart rate Elevated heart rate HPO2016_07_04:HP:0001649 C0008493 Hydatidiform mole, invasive CHORIOADENOMA DESTRUENS | Choriadenoma (destruens) | Chorioadenoma | Chorioadenoma Destruens | Chorioadenoma destruens | Chorioadenomas | GTT, invasive mole | Hydatidiform Mole, Invasive | Hydatidiform Mole, Invasive [Disease/Finding] | Hydatidiform Moles, Invasive | Hydatidiform mole malignant | IM - Invasive mole | Invasive Gestational Trophoblastic Neoplasm | Invasive Hydatidiform Mole | Invasive Hydatidiform Moles | Invasive Mole | Invasive Moles | Invasive hydatidiform mole | Invasive hydatidiform mole (disorder) | Invasive hydatidiform mole (morphologic abnormality) | Invasive mole | Invasive mole - placenta | Invasive mole, NOS | MOLE, DESTRUCTIVE | MOLE, INVASIVE | MOLE, MALIGNANT | Malignant hydatid mole | Malignant hydatidiform mole | Malignant hydatidiform mole (disorder) | Molar pregnancy with chorioadenoma | Molar pregnancy with chorioadenoma destruens | Molar pregnancy with invasive hydatidiform mole | Molar pregnancy with invasive hydatidiform mole (disorder) | Molar pregnancy with invasive mole | Molar pregnancy with malignant hydatidiform mole | Mole, Invasive | Mole, Invasive Hydatidiform | Mole;malignant | Moles, Invasive | Moles, Invasive Hydatidiform | [M]Chorioadenoma | [M]Chorioadenoma destruens | [M]Invasive hydatidiform mole | chorioadenoma | chorioadenoma destruens | destructive; mole | gestational trophoblastic tumor, invasive mole | hydatidiform mole; invasive | hydatidiform mole; malignant | invasive hydatidiform mole | invasive hydatidiform mole (diagnosis) | invasive mole | invasive; hydatidiform mole | invasive; mole | malignant mole | malignant moles | malignant; hydatidiform mole | malignant; mole, hydatidiform | molar pregnancy, invasive (non-metastatic GTD) | mole; destructive | mole; hydatidiform, invasive | mole; hydatidiform, malignant | mole; invasive | mole; malignant, hydatidiform mole MSH2017_2016_08_12:A uterine tumor derived from persistent gestational TROPHOBLASTS, most likely after a molar pregnancy (HYDATIDIFORM MOLE). Invasive hyadatiform mole develops in about 15% of patients after evacuation of a complete mole and less frequently after other types of gestation. It may perforate the MYOMETRIUM and erode uterine vessels causing hemorrhage. | NCI2016_02D:A complete hydatidiform mole or very rarely a partial mole that invades the myometrium.(NICHD) | NCI2016_NCI-GLOSS_1602D:A type of cancer that grows into the muscular wall of the uterus. It is formed after conception (fertilization of an egg by a sperm). It may spread to other parts of the body, such as the vagina, vulva, and lung. | NCI2016_NICHD_1602D:A complete hydatidiform mole or very rarely a partial mole that invades the myometrium. ICD10CM_2017:D39.2|MSH2017_2016_08_12:D002820|SNOMEDCT_US_2016_09_01:154643005|SNOMEDCT_US_2016_09_01:18799007|SNOMEDCT_US_2016_09_01:189444004|SNOMEDCT_US_2016_09_01:416669000|SNOMEDCT_US_2016_09_01:74153005 C0282687 Hemorrhagic fever, ebola EVD - Ebola virus disease | Ebola | Ebola Hemorrhagic Fever | Ebola Infection | Ebola Virus Disease | Ebola Virus Infection | Ebola disease | Ebola haemorrhagic fever | Ebola hemorrhagic fever | Ebola virus disease | Ebola virus disease (disorder) | Ebola virus disease -RETIRED- | Ebola virus hemorrhagic fever | Ebola virus hemorrhagic fever (diagnosis) | Ebola virus infection | Hemorrhagic Fever, Ebola | Hemorrhagic Fever, Ebola [Disease/Finding] | Infection, Ebola | Infection, Ebola Virus | Viral haemorrhagic fever, Ebola | Viral hemorrhagic fever, Ebola | Virus Infection, Ebola | disease ebola | ebola fever hemorrhagic | ebola haemorrhagic fever | ebola hemorrhagic fever | ebola virus disease | ebola virus infection MEDLINEPLUS_20151021:Ebola hemorrhagic fever is caused by a virus. It is a severe and often fatal disease. It can affect humans and other primates. Researchers believe that the virus first spreads from an infected animal to a human. It can then spread from human to human through direct contact with a patient's blood or secretions.
Symptoms of Ebola may appear anywhere from 2 to 21 days after exposure to the virus. Symptoms usually include
Other symptoms including rash, red eyes, and internal and external bleeding, may also occur.
The early symptoms of Ebola are similar to other, more common, diseases. This makes it difficult to diagnose Ebola in someone who has been infected for only a few days. However, if a person has the early symptoms of Ebola and there is reason to suspect Ebola, the patient should be isolated. It is also important to notify public health professionals. Lab tests can confirm whether the patient has Ebola.
There is no cure for Ebola. Treatment involves supportive care such as fluids, oxygen, and treatment of complications. Some people who get Ebola are able to recover, but many do not.
Centers for Disease Control and Prevention
| MSH2017_2016_08_12:A highly fatal, acute hemorrhagic fever, clinically very similar to MARBURG VIRUS DISEASE, caused by EBOLAVIRUS, first occurring in the Sudan and adjacent northwestern (what was then) Zaire. ICD10CM_2017:A98.4|MSH2017_2016_08_12:D019142|SNOMEDCT_US_2016_09_01:123323003|SNOMEDCT_US_2016_09_01:186746000|SNOMEDCT_US_2016_09_01:37109004 C1859120 Anterior rib punctate calcifications Anterior rib punctate calcifications HPO2016_07_04:Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs. [HPO:probinson] HPO2016_07_04:HP:0006619|OMIM2016_04_17:MTHU013853 C1852759 Papillorenal syndrome CAKUT WITH OR WITHOUT OCULAR ABNORMALITIES | COLOBOMA OF OPTIC NERVE WITH RENAL DISEASE | CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH OR WITHOUT OCULAR ABNORMALITIES | Coloboma of optic nerve with renal disease | Coloboma-Ureteral-Renal Syndrome | OPTIC COLOBOMA, VESICOURETERAL REFLUX, AND RENAL ANOMALIES | OPTIC NERVE COLOBOMA WITH RENAL DISEASE | Optic Nerve Coloboma Renal Syndrome | Optic coloboma, vesicoureteral reflux, and renal anomalies | Optic nerve coloboma with renal disease | PAPILLORENAL SYNDROME | PAPRS | Papillorenal Syndrome | Papillorenal syndrome | RENAL-COLOBOMA SYNDROME | RENAL-COLOBOMA SYNDROME WITH MACULAR ABNORMALITIES | Renal Coloboma Syndrome | Renal coloboma syndrome | Renal coloboma syndrome (disorder) | Renal-Coloboma Syndrome With Macular Abnormalities | Renal-coloboma syndrome NCI2016_02D:A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and urinary tract.(NICHD) | NCI2016_NICHD_1602D:A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and urinary tract. MSH2017_2016_08_12:C537168|OMIM2016_04_17:120330|OMIM2016_04_17:167409|SNOMEDCT_US_2016_09_01:446449009 C0153244 Pinta, mixed lesions Mixed cutaneous pinta lesion | Mixed cutaneous pinta lesion (disorder) | Mixed lesions of pinta | Mixed pinta lesions | Mixed pinta lesions (disorder) | Pinta, mixed lesions | Pinta, mixed lesions (disorder) | mixed lesions of pinta | mixed lesions of pinta (diagnosis) | pinta; lesions, mixed | pinta; lesions, skin, mixed | pinta; skin lesions, mixed ICD10CM_2017:A67.3|ICD9CM_2014:103.3|SNOMEDCT_US_2016_09_01:186975003|SNOMEDCT_US_2016_09_01:240685007|SNOMEDCT_US_2016_09_01:68131004 C0281267 Bilateral breast cancer Bilateral Breast Cancer | Bilateral Breast Carcinoma | bilateral breast cancer | cancer in both breasts NCI2016_02D:Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner. C1838579 Pseudobulbar signs Pseudobulbar signs | Pseudobulbar symptoms HPO2016_07_04:Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. [HPO:sdoelken] HPO2016_07_04:HP:0002200|OMIM2016_04_17:MTHU006592|OMIM2016_04_17:MTHU031656 C0425772 Premature development of the breasts Precocious breast development | Precocious thelarche | Premature Thelarche | Premature breast development | Premature breast development at puberty | Premature development of the breasts | Premature development of the breasts (finding) | Premature thelarche | Premature thelarche (disorder) | precocious breast development | precocious breast development (symptom) | precocious thelarche | precocious; thelarche | premature breast development | premature thelarche | premature thelarche (diagnosis) | premature; thelarche | thelarche; precocious | thelarche; premature HPO2016_07_04:Premature development of the breasts. [HPO:probinson] | NCI2016_02D:Isolated breast development prior to the normal age of pubertal onset in females.(NICHD) | NCI2016_NICHD_1602D:Isolated breast development prior to the normal age of pubertal onset in females. HPO2016_07_04:HP:0010314|ICD10CM_2017:E30.8|OMIM2016_04_17:MTHU036886|SNOMEDCT_US_2016_09_01:102889008|SNOMEDCT_US_2016_09_01:190577006 C1850640 Long eyelashes in irregular rows Long eyelashes in irregular rows HPO2016_07_04:HP:0007740|OMIM2016_04_17:MTHU010798 C4225272 Spastic paraplegia 9b, autosomal recessive SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE | SPG9B OMIM2016_04_17:138250|OMIM2016_04_17:616586 C4023931 Cone-shaped epiphyses of the proximal phalanges of the hand Cone-shaped end part of the innermost hand bones | Cone-shaped epiphyses of the proximal phalanges of the hand HPO2016_07_04:HP:0010270 C4072858 Solitary scalp defect Solitary scalp defect HPO2016_07_04:HP:0007385 C0079136 Cockayne-touraine disease Cockayne Touraine Disease | Cockayne Touraine Type Epidermolysis Bullosa | Cockayne Touraine epidermolysis bullos | Cockayne Touraine epidermolysis bullosa | Cockayne-Touraine Disease | Cockayne-Touraine Type Epidermolysis Bullosa | DDEB (dominant dystrophic epidermolysis bullosa) | Dermolytic bullous dermatosis, dominant | Dominant dystrophic epidermolysis bullosa | Dominant dystrophic epidermolysis bullosa (disorder) | EBDCT | EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE | Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type | Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type | Epidermolysis Bullosa Dystrophica, Dominant | Epidermolysis bullosa dystrophica dominans | Epidermolysis bullosa dystrophica, dominant | Epidermolysis bullosa, Cockayne-Touraine type | Hyperplastic dystrophic epidermolysis bullosa | Hyperplastic epidermolysis bullosa MSH2017_2016_08_12:D016108|OMIM2016_04_17:131750|SNOMEDCT_US_2016_09_01:111389006|SNOMEDCT_US_2016_09_01:21050007 C0860904 Ige deficiency Decreased IgE | IgE decreased | IgE deficiency | Immunoglobulin E decreased | Immunoglobulin E low HPO2016_07_04:An abnormally decreased level of immunoglobulin IgE in blood. [HPO:probinson] HPO2016_07_04:HP:0005479 C3554316 Epileptic encephalopathy, early infantile, 15 EIEE15 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 OMIM2016_04_17:606494|OMIM2016_04_17:615006 C2026059 Central centrifugal scarring alopecia central centrifugal scarring alopecia | central centrifugal scarring alopecia (diagnosis) C1855535 Larsen like syndrome, lethal type LARSEN-LIKE SYNDROME, LETHAL TYPE | Larsen like syndrome, lethal type | Larsen-Like Syndrome, Lethal Type | Larsen-like multiple joint dislocation syndrome MSH2017_2016_08_12:C537872|OMIM2016_04_17:245650 C0025162 Megacolon toxic Acute megacolon | MEGACOLON TOXIC | Megacolon toxic | Megacolon, Toxic | Megacolon, Toxic [Disease/Finding] | Toxic Megacolon | Toxic dilatation of colon | Toxic megacolon | Toxic megacolon (disorder) | megacolon; toxic | toxic megacolon | toxic; megacolon MSH2017_2016_08_12:An acute form of MEGACOLON, severe pathological dilatation of the COLON. It is associated with clinical conditions such as ULCERATIVE COLITIS; CROHN DISEASE; AMEBIC DYSENTERY; or CLOSTRIDIUM ENTEROCOLITIS. ICD10CM_2017:K59.31|MSH2017_2016_08_12:D008532|SNOMEDCT_US_2016_09_01:28536002 C0013426 Dystrophy of vulva Dystrophy of vulva | Dystrophy of vulva (disorder) | Dystrophy of vulva NOS | Dystrophy of vulva NOS (disorder) | Vulvar Dystrophy | dystrophies vulvar | dystrophy of vulva | dystrophy of vulva (diagnosis) | dystrophy vulva | dystrophy vulvar | dystrophy; vulva | vulva dystrophy | vulva; dystrophy | vulvar dystrophy NCI2016_02D:A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness. ICD10CM_2017:N90.4|ICD9CM_2014:624.0|SNOMEDCT_US_2016_09_01:198378001|SNOMEDCT_US_2016_09_01:198381006|SNOMEDCT_US_2016_09_01:51689003 C0410228 Muscle abscess of foot Muscle abscess of foot | Muscle abscess of foot (disorder) | Muscle abscess-foot | Muscle abscess-foot (disorder) SNOMEDCT_US_2016_09_01:203029003 C1335744 Kidney lipoma Kidney Lipoma | Lipoma of Kidney | Lipoma of the Kidney | Renal Lipoma NCI2016_02D:A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain. C1846344 Bartter syndrome, type 3, with hypocalciuria BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA | Bartter Syndrome, Type 3, with Hypocalciuria MSH2017_2016_08_12:C564578|OMIM2016_04_17:602023|OMIM2016_04_17:607364 C3811918 Grn-related frontotemporal dementia Frontotemporal lobar degeneration | GRN-related frontotemporal dementia | GRN-related frontotemporal dementia (disorder) | Hereditary dysphasic disinhibition dementia SNOMEDCT_US_2016_09_01:702426001 C1840238 Midnasal stenosis Midnasal atresia or stenosis | Midnasal stenosis HPO2016_07_04:Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress. [HPO:probinson] HPO2016_07_04:HP:0010644|OMIM2016_04_17:MTHU017682 C3281152 Chromosome 16q22 deletion syndrome CHROMOSOME 16q22 DELETION SYNDROME OMIM2016_04_17:614541 C0457014 Book syndrome BOOK SYNDROME | Book Syndrome | Book's syndrome | Hyperhidrosis, premature cavities and premolar aplasia | Hyperhidrosis, premature cavities and premolar aplasia (finding) | PHC SYNDROME | PHC Syndrome MSH2017_2016_08_12:C562993|OMIM2016_04_17:112300|SNOMEDCT_US_2016_09_01:239045006 C1863613 Deafness, autosomal recessive 14 DEAFNESS, AUTOSOMAL RECESSIVE 14 | DFNB14 | Deafness, Autosomal Recessive 14 MSH2017_2016_08_12:C566344|OMIM2016_04_17:603678 C1865572 Proximally placed thumbs Low implantation of the thumb | Proximal placement of thumb | Proximally placed halluces | Proximally placed thumb | Proximally placed thumbs | proximally placed thumbs | proximally placed thumbs (physical finding) HPO2016_07_04:Proximal mislocalization of the thumb. [HPO:probinson, pmid:19125433] HPO2016_07_04:HP:0009623|OMIM2016_04_17:MTHU004817|OMIM2016_04_17:MTHU005518 C1859468 Bird headed dwarfism montreal type BIRD-HEADED DWARFISM, MONTREAL TYPE | Bird headed dwarfism Montreal type | Bird-Headed Dwarfism, Montreal Type | Bird-headed dwarfism with features of premature senility | MICROCEPHALIC PRIMORDIAL DWARFISM, MONTREAL TYPE MSH2017_2016_08_12:C535448|OMIM2016_04_17:210700 C1367859 Pineal parenchymal tumor of intermediate differentiation Pineal Parenchymal Tumor of Intermediate Differentiation | Pineal parenchymal tumor of intermediate differentiation | Pineal parenchymal tumor of intermediate differentiation (disorder) | Pineal parenchymal tumor of intermediate differentiation (morphologic abnormality) | Pineal parenchymal tumour of intermediate differentiation NCI2016_02D:A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO) | SNOMEDCT_US_2016_09_01:Describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity. | SNOMEDCT_US_2016_09_01:Describes a rare type of pineal parenchymal tumour (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity. SNOMEDCT_US_2016_09_01:31671006|SNOMEDCT_US_2016_09_01:397379005|SNOMEDCT_US_2016_09_01:715904005 C1846573 Hypercalciuria, absorptive, 1 (disorder) HCA1 | HYPERCALCIURIA, ABSORPTIVE, 1 | HYPERCALCIURIA, ABSORPTIVE, 1 (disorder) | Hypercalciuria, Absorptive, 1 MSH2017_2016_08_12:C564600|OMIM2016_04_17:607258 C1855330 Cerebral hypoplasia Cerebral hypoplasia | Small cerebrum | Underdeveloped cerebrum HPO2016_07_04:Underdevelopment of the cerebrum. [HPO:probinson] HPO2016_07_04:HP:0006872|OMIM2016_04_17:MTHU011714 C2931735 Epidermolytic palmoplantar keratoderma vorner type Epidermolytic Palmoplantar Keratoderma Vorner Type | Epidermolytic palmoplantar keratoderma Vorner type MSH2017_2016_08_12:D053546 C2698308 B acute lymphoblastic leukemia with t(v;11q23); mll rearranged B Acute Lymphoblastic Leukemia with t(v;11q23); MLL Rearranged | B-Acute Lymphoblastic Leukemia with t(v;11q23); MLL Rearranged | B-Cell Acute Lymphoblastic Leukemia with t(v;11q23); MLL Rearranged NCI2016_02D:A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the MLL gene at 11q23 and another gene partner resulting in the production of an MLL related fusion protein. It is the most commonly seen leukemia in the pediatric population under the age of one year. The prognosis is unfavorable. C1970841 Mental retardation, x-linked 93 (disorder) MENTAL RETARDATION, X-LINKED 93 | MENTAL RETARDATION, X-LINKED 93 (disorder) | MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY | MRX93 | Mental Retardation, X-Linked 93 | Mental Retardation, X-Linked, With Macrocephaly MSH2017_2016_08_12:C567066|OMIM2016_04_17:300553|OMIM2016_04_17:300659 C0683416 Neurotic derealization Depersonalisation disorder | Depersonalisation neurosis | Depersonalisation syndrome | Depersonalization Disorder | Depersonalization Disorders | Depersonalization disorder | Depersonalization disorder (disorder) | Depersonalization neurosis | Depersonalization syndrome | Disorder, Depersonalization | Disorders, Depersonalization | Neurosis, depersonalization | Neurotic derealization | depersonalisation syndrome | depersonalization disorder | depersonalization disorder (diagnosis) | depersonalization neurosis | depersonalization syndrome | depersonalization; disorder | depersonalization; syndrome | disorder; depersonalization | neurotic derealization | syndrome; depersonalization NCI2016_02D:A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality. ICD9CM_2014:300.6|MSH2017_2016_08_12:D003861|SNOMEDCT_US_2016_09_01:70764005 C0019575 Leech infestation Hirudiniasis | Hirudiniasis - leech infestation | Hirudiniasis, NOS | Leech infestation | Leech infestation (disorder) | Leech infestation NOS | Leech infestation, NOS | Leeches | Leeches, NOS | hirudiniasis | infestation by leeches | infestation by leeches (diagnosis) | infestation; leeches | leech infestation | leeches | leeches; infestation ICD10CM_2017:B88.3|ICD9CM_2014:134.2|SNOMEDCT_US_2016_09_01:154423006|SNOMEDCT_US_2016_09_01:266225001|SNOMEDCT_US_2016_09_01:64351000 C0268603 Acetyl coa: carboxylase deficiency ACACA DEFICIENCY | ACACA Deficiency | ACACAD | ACC deficiency | ACC1 DEFICIENCY | ACETYL-CoA CARBOXYLASE DEFICIENCY | Acetyl-CoA: carboxylase deficiency | Acetyl-CoA: carboxylase deficiency (disorder) | Acetyl-Coa Carboxylase Deficiency | Deficiency of acetyl-CoA carboxylase | Deficiency of acetyl-CoA carboxylase (disorder) MSH2017_2016_08_12:C562678|OMIM2016_04_17:613933|SNOMEDCT_US_2016_09_01:124717004|SNOMEDCT_US_2016_09_01:4920001 C1866636 Charcot-marie-tooth disease, type 4c CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C | CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4C | CMT 4C | CMT4C | Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c | Charcot-Marie-Tooth Neuropathy, Type 4c | Charcot-Marie-Tooth disease type 4C | Charcot-Marie-Tooth disease type 4C (diagnosis) | Charcot-Marie-Tooth disease type 4C (disorder) | Charcot-Marie-Tooth disease, Type 4C | Cmt4c SNOMEDCT_US_2016_09_01:Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis. CMT4C is a relatively frequent form of CMT4: it was first described in Algeria but families have since been reported from Morocco, Mediterranean countries and from Germany, the Netherlands and France. Scoliosis may be the inaugural feature of the disease, with onset usually occurring in childhood. CMT4C is caused by mutations in the SH3TC2 gene (5q32). Transmitted in an autosomal recessive manner. MSH2017_2016_08_12:C535423|OMIM2016_04_17:601596|OMIM2016_04_17:608206|SNOMEDCT_US_2016_09_01:715797002 C3151406 Spermatogenic failure 8 SPERMATOGENIC FAILURE 8 | SPGF8 OMIM2016_04_17:184757|OMIM2016_04_17:613957 C3502401 Congenital heart defects, x linked Congenital Heart Defects, X-Linked MSH2017_2016_08_12:C567444 C1333969 Hepatic leiomyosarcoma Hepatic Leiomyosarcoma | Leiomyosarcoma of Liver | Leiomyosarcoma of the Liver | Liver Leiomyosarcoma | leiomyosarcoma of liver | leiomyosarcoma of liver (diagnosis) NCI2016_02D:An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells. C2931918 Transketolase defect TRANSKETOLASE DEFECT | Transketolase defect MSH2017_2016_08_12:C538669|OMIM2016_04_17:277730 C0079298 Epidermolysis bullosa simplex Bullosa Simplices, Epidermolysis | Epidermolysis Bullosa Simplex | Epidermolysis Bullosa Simplex [Disease/Finding] | Epidermolysis Bullosa Simplices | Epidermolysis bullosa simplex | Epidermolysis bullosa simplex (disorder) | epidermolysis bullosa simplex (diagnosis) | epidermolysis; bullosa, simplex MSH2017_2016_08_12:A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex. | NCI2016_02D:A genetic skin disorder caused by mutations in the KRT5 and KRT14 genes. It is characterized by the formation of blisters and increased fragility of the skin. ICD10CM_2017:Q81.0|MSH2017_2016_08_12:D016110|OMIM2016_04_17:MTHU036723|SNOMEDCT_US_2016_09_01:205585003|SNOMEDCT_US_2016_09_01:67144006 C0266371 Streak ovary Ovarian streak | Streak of ovary | Streak ovaries | Streak ovary | Streak ovary (disorder) | ovarian streak (diagnosis) | ovarian streaks | ovary streaked | ovary; streak | streak ovary | streak; ovary HPO2016_07_04:A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. [HPO:probinson] HPO2016_07_04:HP:0010464|ICD10CM_2017:Q50.32|OMIM2016_04_17:MTHU020704|SNOMEDCT_US_2016_09_01:70550008 C0553982 Impaired left ventricular function Decreased left ventricular function | Impaired left ventricular func | Impaired left ventricular function | Impaired left ventricular function (finding) | LEFT VENTRICULAR FUNCTION DECREASED | Left ventricular impairment HPO2016_07_04:HP:0005162|OMIM2016_04_17:MTHU003612|OMIM2016_04_17:MTHU038632|SNOMEDCT_US_2016_09_01:142256001|SNOMEDCT_US_2016_09_01:165086001|SNOMEDCT_US_2016_09_01:195113008|SNOMEDCT_US_2016_09_01:275514001 C4023068 Increased urinary cortisol level High urine cortisol level | Increased urinary cortisol level HPO2016_07_04:Abnormally increased concentration of cortisol in the urine. [HPO:probinson] HPO2016_07_04:HP:0012030 C0158761 Radioulnar synostosis Fused forearm bones | RADIOULNAR SYNOSTOSIS | Radioulnar Synostosis | Radioulnar synostosis | Radioulnar synostosis (disorder) | radioulnar synostosis | radioulnar synostosis (diagnosis) | radioulnar; synostosis | synostosis radioulnar | synostosis; radioulnar HPO2016_07_04:An abnormal osseous union (fusion) between the radius and the ulna. [HPO:probinson] HPO2016_07_04:HP:0002974|ICD10CM_2017:Q74.0|ICD9CM_2014:755.53|MSH2017_2016_08_12:C562408|OMIM2016_04_17:179300|OMIM2016_04_17:MTHU010006|SNOMEDCT_US_2016_09_01:33313004 C2349426 Ndph NDPH | New Daily Persistent Headache | New daily persistent headache | New daily persistent headache (disorder) | new daily persistent headache | new daily persistent headache (diagnosis) NCI2016_02D:A bilateral, unremitting headache of mild to moderate intensity that occurs daily and may be associated with photophobia, phonophobia, or mild nausea. | NCI2016_NICHD_1602D:A bilateral, unremitting headache of mild to moderate intensity that occurs daily and may be associated with photophobia, phonophobia, or mild nausea. ICD9CM_2014:339.42|SNOMEDCT_US_2016_09_01:121021000119105 C0003125 Anorexia nervosa AN - Anorexia nervosa | ANOREXIA NERVOSA | ANOREXIA, NERVOSA | Anorexia Nervosa | Anorexia Nervosa [Disease/Finding] | Anorexia Nervosas | Anorexia mentalis | Anorexia nervosa | Anorexia nervosa (disorder) | Anorexia nervosa, unspecified | Nervosa, Anorexia | Nervosas, Anorexia | anorexia mentalis | anorexia nervosa | anorexia nervosa (diagnosis) | anorexia; nervosa | nervosa; anorexia CSP2006:syndrome in which the primary features include excessive fear of becoming overweight, body image disturbance, significant weight loss, refusal to maintain minimal normal weight, and amenorrhea; disorder occurs most frequently in adolescent females. | MSH2017_2016_08_12:An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994) | NCI2016_02D:A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea. | NCI2016_NCI-GLOSS_1602D:An eating disorder marked by an intense fear of gaining weight, a refusal to maintain a healthy weight, and a distorted body image. People with anorexia nervosa have an abnormal loss of appetite for food, try to avoid eating, and eat as little as possible. | PSY2004:Syndrome in which the primary features include excessive fear of becoming overweight, body image disturbance, significant weight loss, refusal to maintain minimal normal weight, and amenorrhea. This disorder occurs most frequently in adolescent females. ICD10CM_2017:F50.0|ICD10CM_2017:F50.00|ICD9CM_2014:307.1|MSH2017_2016_08_12:D000856|SNOMEDCT_US_2016_09_01:154926005|SNOMEDCT_US_2016_09_01:192445002|SNOMEDCT_US_2016_09_01:56882008 C0152023 Nephropathy hypercalcemic Hypercalcaemic nephropathy | Hypercalcemic nephropathy | Hypercalcemic nephropathy (disorder) | Hypercalcemic nephropathy syndrome | NEPHROPATHY HYPERCALCEMIC | NEPHROPATHY, HYPERCALCEMIC | Nephropathy hypercalcaemic | Nephropathy hypercalcemic | hypercalcemic nephropathy | hypercalcemic nephropathy (diagnosis) SNOMEDCT_US_2016_09_01:33763006 C0432336 Cutis laxa, recessive, type i Cutis laxa, recessive, type I | Cutis laxa, recessive, type I (disorder) SNOMEDCT_US_2016_09_01:254222002 C3150931 Steep acetabular roof Steep acetabular roof HPO2016_07_04:An exageration of the normal arched form of the acetabular roof such that it takes on a steep appearance. [HPO:probinson] HPO2016_07_04:HP:0010455|OMIM2016_04_17:MTHU030396 C2266639 Absence of eyebrows Absence of eyebrow | Absence of eyebrows | Lack of eyebrow | Missing eyebrow | absence of eyebrow | absence of eyebrow (physical finding) | the eyebrow hair was absent HPO2016_07_04:HP:0100840|OMIM2016_04_17:MTHU024317 C0589603 Disorder following clinical procedure Disorder following clinical procedure | Disorders following clinical procedure | Disorders following clinical procedure (disorder) SNOMEDCT_US_2016_09_01:312087002 C3662855 Partial frontal lobe epilepsy Partial frontal lobe epilepsy | Partial frontal lobe epilepsy (disorder) SNOMEDCT_US_2016_09_01:14401000119109 C3806403 Continuous spike and waves during slow-wave sleep syndrome CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME | CSWS | CSWSS OMIM2016_04_17:245570 C0037356 Smallpox virus Poxvirus variolae | Smallpox | Smallpox Virus | Smallpox Viruses | Smallpox virus | VARIOLA VIRUS | Variola Virus | Variola Virus VAR | Variola virus | Variola virus (living organism) (organism) | Variola virus (living organism) [Ambiguous] | Variola virus (organism) | Variola viruses | poxvirus variolae | small pox virus | smallpox | smallpox virus | variola virus | variola virus VAR CSP2006:species of orthopoxvirus causing infections in humans, virtually extinct in nature. | MSH2017_2016_08_12:A species of ORTHOPOXVIRUS causing infections in humans. No infections have been reported since 1977 and the virus is now believed to be virtually extinct. | NCI2016_02D:An orthopoxvirus that is the causative agent of smallpox. | NCI2016_CDISC_1602D:Any viral organism that can be assigned to the species Variola virus. MSH2017_2016_08_12:D012901|NCBI2016_03_21:10255|SNOMEDCT_US_2016_09_01:243568000|SNOMEDCT_US_2016_09_01:243569008|SNOMEDCT_US_2016_09_01:47376002 C1837329 Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema LACH | LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA | Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema MSH2017_2016_08_12:C563852|OMIM2016_04_17:608809 C0263471 Granulosis rubra nasi GRANULOSIS RUBRA NASI | Granulosis Rubra Nasi | Granulosis rubra nasi | Granulosis rubra nasi (disorder) | granulosis rubra nasi | granulosis rubra nasi (diagnosis) MSH2017_2016_08_12:C562483|OMIM2016_04_17:139000|SNOMEDCT_US_2016_09_01:22818000 C4024678 Punctate vertebral calcifications Punctate vertebral calcifications HPO2016_07_04:The presence of punctiform calcification of the bone of the vertebral bodies. [HPO:probinson] HPO2016_07_04:HP:0008420 C0016059 Fibrosis Desmoplasia | FIBROSIS | Fibroplasia | Fibroplasia, NOS | Fibroses | Fibrosis | Fibrosis (morphologic abnormality) | Fibrosis (qualifier value) | Fibrosis NOS | Fibrosis [Disease/Finding] | Fibrosis, NOS | Fibrous repair | Fibrous replacement | Fibrous thickening | Fibrous tissue formation | desmoplasia | fibroplasia | fibrose | fibroses | fibrosis | fibrosis (formation of excess fibrous connective tissue) CHV2011_02:formation of excess fibrous connective tissue | CSP2006:development of excess fibrous connective tissue in an organ. | MSH2017_2016_08_12:Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. | NCI2016_02D:The formation of fibrous tissue. | NCI2016_CDISC_1602D:Increase in collagen and low numbers of fibrocytes. | NCI2016_FDA_1602D:The formation of fibrous tissue; fibroid or fibrous degeneration. | NCI2016_NCI-GLOSS_1602D:The growth of fibrous tissue. MSH2017_2016_08_12:D005355|OMIM2016_04_17:MTHU024688|SNOMEDCT_US_2016_09_01:112674009|SNOMEDCT_US_2016_09_01:263756000 C0553980 Endomyocardial fibrosis Endocardial fibrosis | Endomyocardial Fibroses | Endomyocardial Fibrosis | Endomyocardial Fibrosis [Disease/Finding] | Endomyocardial fibrosis | Endomyocardial fibrosis (disorder) | Endomyocardial fibrosis -RETIRED- | Endomyocardial sclerosis | FIBROSIS ENDOCARDIAL | FIBROSIS, ENDOMYOCARDIAL | Fibroses, Endomyocardial | Fibrosis endocardial | Fibrosis, Endomyocardial | Sclerosis, endomyocardial | endocardial fibrosis | endocardium; fibrosis | endomyocardial fibrosis | endomyocardial fibrosis (diagnosis) | endomyocardial; fibrosis | fibrosis; endocardium | fibrosis; endomyocardial CSP2006:disease characterized by thickening of the endocardium, and frequently the inner third of the myocardium; left ventricle is most frequently involved. | HPO2016_07_04:The presence of excessive connective tissue in the endocardium. [HPO:probinson] | MSH2017_2016_08_12:A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE). | NCI2016_02D:A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator. HPO2016_07_04:HP:0006685|ICD9CM_2014:425.0|MSH2017_2016_08_12:D004719|OMIM2016_04_17:MTHU002869|OMIM2016_04_17:MTHU050370|SNOMEDCT_US_2016_09_01:111507009|SNOMEDCT_US_2016_09_01:123264005|SNOMEDCT_US_2016_09_01:155351008|SNOMEDCT_US_2016_09_01:266301006|SNOMEDCT_US_2016_09_01:30293000|SNOMEDCT_US_2016_09_01:398716006 C0206686 Adrenocortical carcinoma ADRENAL CARCINOMA | ADRENAL CORTEX CANCER, CARCINOMA | ADRENAL CORTEX, CARCINOMA | Adenocarcinoma, Adrenocortical, Malignant | Adrenal Cortex Adenocarcinoma | Adrenal Cortex Cancer | Adrenal Cortex Carcinoma | Adrenal Cortical Adenocarcinoma | Adrenal Cortical Carcinoma | Adrenal Cortical Carcinomas | Adrenal adenocarcinoma | Adrenal carcinoma | Adrenal carcinoma (disorder) | Adrenal carcinoma NOS | Adrenal cortical adenocarcinoma | Adrenal cortical carcinoma | Adrenal cortical carcinoma (morphologic abnormality) | Adrenal gland carinoma | Adrenocortical Carcinoma | Adrenocortical Carcinoma [Disease/Finding] | Adrenocortical Carcinomas | Adrenocortical carcinoma | Adrenocortical carcinoma, NOS | Adrenocortical carcinomas | CARCINOMA ADRENAL | CARCINOMA, ADRENOCORTICAL, MALIGNANT | Carcinoma adrenal | Carcinoma of Adrenal Cortex | Carcinoma of the Adrenal Cortex | Carcinoma, Adrenal Cortical | Carcinoma, Adrenocortical | Carcinomas, Adrenal Cortical | Carcinomas, Adrenocortical | Cortical Cell Carcinoma | adenocarcinoma adrenal | adenocarcinoma of adrenal gland | adenocarcinoma of adrenal gland (diagnosis) | adenocarcinoma; adrenal cortical | adrenal adenocarcinoma | adrenal carcinoma | adrenal carcinomas | adrenal cortex carcinoma | adrenal cortical carcinoma | adrenal cortical; adenocarcinoma | adrenal cortical; carcinoma | adrenocortical cancer | adrenocortical carcinoma | adrenocortical carcinoma of adrenal gland | adrenocortical carcinoma of adrenal gland (diagnosis) | cancer of the adrenal cortex | carcinoma adrenal | carcinoma of adrenal gland | carcinoma of adrenal gland (diagnosis) | carcinoma, adrenocortical | carcinoma; adrenal cortical HPO2016_07_04:A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone. [HPO:probinson] | MSH2017_2016_08_12:A malignant neoplasm of the ADRENAL CORTEX. Adrenocortical carcinomas are unencapsulated anaplastic (ANAPLASIA) masses sometimes exceeding 20 cm or 200 g. They are more likely to be functional than nonfunctional, and produce ADRENAL CORTEX HORMONES that may result in hypercortisolism (CUSHING SYNDROME); HYPERALDOSTERONISM; and/or VIRILISM. | NCI2016_02D:A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. | NCI2016_CDISC_1602D:A malignant epithelial neoplasm arising from adrenal cortical cells. | NCI2016_NCI-GLOSS_1602D:A rare cancer that forms in the outer layer of tissue of the adrenal gland (a small organ on top of each kidney that makes steroid hormones, adrenaline, and noradrenaline to control heart rate, blood pressure, and other body functions). HPO2016_07_04:HP:0006744|MSH2017_2016_08_12:D018268|OMIM2016_04_17:MTHU016123|OMIM2016_04_17:MTHU017416|SNOMEDCT_US_2016_09_01:2227007|SNOMEDCT_US_2016_09_01:255035007 C0406594 Cytophagic histiocytic panniculitis Cytophagic histiocytic panniculitis | Cytophagic histiocytic panniculitis (disorder) SNOMEDCT_US_2016_09_01:238883003 C2675074 Enlarged peripheral nerves Enlarged peripheral nerve | Enlarged peripheral nerves HPO2016_07_04:Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. [HPO:probinson] HPO2016_07_04:HP:0012645|OMIM2016_04_17:MTHU024119 C1840390 Pseudohypoaldosteronism, type iib PHA2B | PSEUDOHYPOALDOSTERONISM, TYPE IIB | Pseudohypoaldosteronism, Type IIb MSH2017_2016_08_12:C564161|OMIM2016_04_17:601844|OMIM2016_04_17:614491 C4012727 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 | MPPH1 OMIM2016_04_17:603157|OMIM2016_04_17:603387 C0155937 Gingivitis acute Acute gingival inflammation | Acute gingivitis | Acute gingivitis (disorder) | Acute gingivitis NOS | GINGIVITIS ACUTE | acute gingivitis | acute gingivitis (diagnosis) | acute; gingivitis | gingivitis; acute ICD10CM_2017:K05.0|ICD10CM_2017:K05.00|ICD9CM_2014:523.0|SNOMEDCT_US_2016_09_01:155643004|SNOMEDCT_US_2016_09_01:234990002|SNOMEDCT_US_2016_09_01:31642005 C1969607 Kallmann syndrome 2 with selective tooth agenesis Kallmann Syndrome 2 with Selective Tooth Agenesis MSH2017_2016_08_12:C566948 C2750027 Growth hormone deficiency with pituitary anomalies CPHD5 | GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES | Growth Hormone Deficiency With Pituitary Anomalies | PITUITARY HORMONE DEFICIENCY, COMBINED, 5 | Pituitary Hormone Deficiency, Combined, 5 MSH2017_2016_08_12:C567632|OMIM2016_04_17:182230|OMIM2016_04_17:601802 C2677336 Aneurysm, intracranial berry, 8 ANEURYSM, INTRACRANIAL BERRY, 8 | ANIB8 | Aneurysm, Intracranial Berry, 8 MSH2017_2016_08_12:C567405|OMIM2016_04_17:612162 C0271441 Chronic otitis media CHRONIC OTITIS MEDIA | Chronic middle ear infection | Chronic otitis media | Chronic otitis media (disorder) | Chronic otitis media NOS | Chronic otitis media, NOS | OTITIS MEDIA CHRONIC | Otitis media chronic | Otitis media chronic NOS | Otitis media, chronic | Otitis media;chronic | chronic media otitis | chronic otitis media | chronic otitis media (diagnosis) | chronic otitis media nos | otitis media chronic | otitis; media, chronic HPO2016_07_04:Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. [HPO:probinson] HPO2016_07_04:HP:0000389|ICD10CM_2017:H66.9|OMIM2016_04_17:MTHU004672|OMIM2016_04_17:MTHU034418|SNOMEDCT_US_2016_09_01:21186006 C3164472 Left ventricular myocardial noncompaction cardiomyopathy Left ventricular myocardial noncompaction cardiomyopathy | Left ventricular myocardial noncompaction cardiomyopathy (disorder) SNOMEDCT_US_2016_09_01:447935001 C4039473 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria type 5 | 3-methylglutaconic aciduria type 5 (disorder) | Dilated cardiomyopathy with ataxia syndrome SNOMEDCT_US_2016_09_01:711412004 C0267373 Intestinal hemorrhage nos Bleeding;intestine | Intestinal Hemorrhage | Intestinal bleeding | Intestinal bleeding, NOS | Intestinal haemorrhage | Intestinal haemorrhage NOS | Intestinal haemorrhage, NOS | Intestinal haemorrhages | Intestinal hemorrhage | Intestinal hemorrhage (disorder) | Intestinal hemorrhage NOS | Intestinal hemorrhage NOS (disorder) | Intestinal hemorrhage, NOS | Intestinal hemorrhages | bleeding intestine | bleeding intestines | bowel; hemorrhage | hemorrhage; bowel | hemorrhage; intestine | intestinal bleeding | intestinal haemorrhage | intestinal hemorrhage | intestine bleed | intestine bleeding | intestine; hemorrhage HPO2016_07_04:Bleeding from the intestines. [DDD:akelly] HPO2016_07_04:HP:0002584|ICD10CM_2017:K92.2|OMIM2016_04_17:MTHU016101|SNOMEDCT_US_2016_09_01:197473009|SNOMEDCT_US_2016_09_01:70375006|SNOMEDCT_US_2016_09_01:712510007 C1850601 Brainstem abnormalities Abnormal shape of brainstem | Abnormality of brainstem morphology | Abnormality of the brainstem | Brainstem abnormalities HPO2016_07_04:An anomaly of the brainstem. [HPO:probinson] HPO2016_07_04:HP:0002363|OMIM2016_04_17:MTHU010762 C0393684 Cingulate epilepsies Cingulate Epilepsies | Cingulate Epilepsy | Cingulate epilepsy | Cingulate epilepsy (disorder) | Epilepsies, Cingulate | Epilepsy, Cingulate MSH2017_2016_08_12:D017034|SNOMEDCT_US_2016_09_01:230396008 C1514837 Renal cell carcinoma associated with t(x;17)(p11.2;q25) Renal Cell Carcinoma Associated with t(X;17)(p11.2;q25) C0026691 Mucocutaneous lymph node syndrome Acute febrile MCLS | Acute febrile MCLS NOS | Acute febrile mucocutaneous lymph node syndrome | Acute febrile mucocutaneous lymph node syndrome (MCLS) | Acute febrile mucocutaneous lymph node syndrome (disorder) | Acute febrile mucocutaneous lymph node syndrome NOS | Acute febrile mucocutaneous lymph node syndrome NOS (disorder) | Acute febrile mucocutaneous lymph node syndrome [MCLS] | Disease;Kawasaki | Infantile Polyarteritis Nodosa | KAWASAKI DISEASE | KD | Kawasaki | Kawasaki Disease | Kawasaki Syndrome | Kawasaki disease | Kawasaki disease (diagnosis) | Kawasaki syndrome | Kawasaki's disease | Kawasaki's disease (disorder) | Kawasaki's syndrome | Kawasakis mucocutaneous lymph node syndrome | Lymph Node Syndrome, Mucocutaneous | MCLS | MLNS | MUCOCUTANEOUS LYMPH NODE SYNDROME | Mucocutaneous Lymph Node Syndrome | Mucocutaneous Lymph Node Syndrome [Disease/Finding] | Mucocutaneous lymph node syndrome | Mucocutaneous lymph node syndrome [Kawasaki] | kawasaki disease | kawasaki syndrome | kawasaki's disease | kawasaki's syndrome | kawasakis syndrome | mucocutaneous lymph node syndrome | mucocutaneous lymph node; syndrome | syndrome; mucocutaneous lymph node CSP2006:systemic disease primarily of infants and young children, characterized by skin rash, swelling of hands and feet, enlarged cervical lymph nodes, "strawberry tongue", dry and cracked lips, high fevers, and coronary artery disease. | MEDLINEPLUS_20151021:Kawasaki disease is a rare childhood disease. It makes the walls of the blood vessels in the body become inflamed. It can affect any type of blood vessel, including the arteries, veins, and capillaries.
No one knows what causes Kawasaki disease. Symptoms include
Kawasaki disease can't be passed from one child to another. There is no single test. To diagnose it, doctors look at the signs and symptoms. They may also use an echocardiogram or other tests. It is mainly treated with medicines. Rarely, medical procedures and surgery also may be used for children whose coronary arteries are affected.
Kawasaki disease can't be prevented. However, most children who develop the disease fully recover - usually within weeks of getting signs and symptoms. Further problems are rare.
NIH: National Heart, Lung, and Blood Institute
| MSH2017_2016_08_12:An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities. | NCI2016_02D:A vasculitis characterized by inflammation of the arteries, particularly the coronary arteries. The vasculitis may lead to aneurysm formation and possibly, heart attacks. It affects young children who usually present with persistent high fever, redness of the mucous membranes of the mouth, redness of the palms and soles, skin rashes, lymphadenitis, and joint pain and swelling. | NCI2016_NICHD_1602D:Medium-sized vessel vasculitis seen primarily in young children with predilection for the coronary arteries. Diagnosis is based on clinical findings of persistent high fever, changes in lips and oral mucous membranes, erythema and edema of hands/feet and later desquamation, bilateral bulbar conjunctivitis, unilateral cervical adenopathy, polymorphous rash. ICD10CM_2017:M30.3|ICD9CM_2014:446.1|MSH2017_2016_08_12:D009080|OMIM2016_04_17:611775|SNOMEDCT_US_2016_09_01:155444003|SNOMEDCT_US_2016_09_01:195348009|SNOMEDCT_US_2016_09_01:195349001|SNOMEDCT_US_2016_09_01:75053002 C2675211 Episodic ataxia, type 6 (disorder) EA6 | EPISODIC ATAXIA, TYPE 6 | EPISODIC ATAXIA, TYPE 6 (disorder) | Episodic Ataxia, Type 6 MSH2017_2016_08_12:C567207|OMIM2016_04_17:600111|OMIM2016_04_17:612656 C0002736 Amyotrophic lateral sclerosis ALS | ALS (Amyotrophic Lateral Sclerosis) | ALS (amyotrophic lateral sclerosis) | ALS - Amyotrophic lateral sclerosis | AMYOTROPHIC LATERAL SCLEROSIS | Amyotrophic Lateral Sclerosis | Amyotrophic Lateral Sclerosis [Disease/Finding] | Amyotrophic Lateral Sclerosis/Progressive Muscular Atrophy | Amyotrophic lateral sclerosis | Amyotrophic lateral sclerosis (disorder) | Amytrophic lateral sclerosis | Bulbar motor neuron disease | Charcot Disease | Disease, Lou-Gehrigs | Gehrig Disease | Gehrig's Disease | Gehrigs Disease | LOU GEHRIG DISEASE | Lou Gehrig Disease | Lou Gehrig's Disease | Lou Gehrig's disease | Lou Gehrig's disease (ALS) | Lou gehrig's disease | Lou-Gehrigs Disease | Motor Neuron Disease, Amyotrophic Lateral Sclerosis | Motor neuron disease, bulbar | Sclerosis, Amyotrophic Lateral | amyotrophic lateral sclerosis | amyotrophic lateral sclerosis (diagnosis) | amyotrophic laterals sclerosis | amyotrophy; lateral sclerosis | creeping; palsy | lateral sclerosis; amyotrophy | lou gehrig disease | lou gehrig's disease | lou gehrigs disease | palsy; creeping | sclerosis; spinal, lateral (amyotrophic) | spinal; sclerosis, lateral (amyotrophic) CSP2006:progressive degeneration of the neurons that give rise to the corticospinal tract and of the motor cells of the brain stem and spinal cord, resulting in a deficit of upper and lower motor neurons. | MEDLINEPLUS_20151021:Amyotrophic lateral sclerosis (ALS) is a nervous system disease that attacks nerve cells called neurons in your brain and spinal cord. These neurons transmit messages from your brain and spinal cord to your voluntary muscles - the ones you can control, like in your arms and legs. At first, this causes mild muscle problems. Some people notice
Eventually, you lose your strength and cannot move. When muscles in your chest fail, you cannot breathe. A breathing machine can help, but most people with ALS die from respiratory failure.
The disease usually strikes between age 40 and 60. More men than women get it. No one knows what causes ALS. It can run in families, but usually it strikes at random. There is no cure. Medicines can relieve symptoms and, sometimes, prolong survival.
NIH: National Institute of Neurological Disorders and Stroke
| MSH2017_2016_08_12:A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94) | NCI2016_02D:A neurodegenerative disorder characterized by progressive degeneration of the motor neurons of the central nervous system. It results in weakness and atrophy of the muscles which leads to an inability to initiate and control voluntary movements. HPO2016_07_04:HP:0007354|ICD10CM_2017:G12.21|ICD9CM_2014:335.20|MSH2017_2016_08_12:D000690|OMIM2016_04_17:MTHU030638|OMIM2016_04_17:MTHU038375|SNOMEDCT_US_2016_09_01:86044005 C1857005 Cone-shaped epiphyses of phalanges 2 to 5 Cone-shaped end part of digital bones 2 to 5 | Cone-shaped epiphyses of phalanges 2 to 5 HPO2016_07_04:HP:0006035|OMIM2016_04_17:MTHU013179 C1861448 Growth hormone deficiency with wormian bones, cardiac anomaly, and brachycamptodactyly GROWTH HORMONE DEFICIENCY WITH WORMIAN BONES, CARDIAC ANOMALY, AND BRACHYCAMPTODACTYLY | Growth Hormone Deficiency with Wormian Bones, Cardiac Anomaly, and Brachycamptodactyly | STRATTON-PARKER SYNDROME | Stratton-Parker Syndrome MSH2017_2016_08_12:C566105|OMIM2016_04_17:185120 C1138421 Spider veins Spider Vein | Spider Veins | Spider vein | Spider veins | Spider-burst | Vein, Spider | Veins, Spider | Veins, spider | spider vein | spider veins | vein spider HPO2016_07_04:HP:0001009|MSH2017_2016_08_12:D013684|OMIM2016_04_17:MTHU034648 C1517555 Gliomatosis cerebri type i Gliomatosis Cerebri Type I C3151188 Nephronophthisis 9 NEPHRONOPHTHISIS 9 | NPHP9 OMIM2016_04_17:609799|OMIM2016_04_17:613824 C0751746 Amino acid transport disorders, inborn Amino Acid Transport Disorders, Inborn | Amino Acid Transport Disorders, Inborn [Disease/Finding] | Inborn Transport Disorders, Amino Acid | Inherited Amino Acid Transport Disorders | Transport Disorders, Amino Acid, Inborn MSH2017_2016_08_12:Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92) MSH2017_2016_08_12:D020157 C2064167 Gastric signet ring cell carcinoma gastric signet ring cell carcinoma | signet ring cell carcinoma of stomach | signet ring cell carcinoma of stomach (diagnosis) C1863843 Neuronal intranuclear inclusion disease NEURONAL INTRANUCLEAR INCLUSION DISEASE | NIID | Neuronal Intranuclear Inclusion Disease | Neuronal intranuclear inclusion disease | Neuronal intranuclear inclusion disease (disorder) NCI2016_02D:A rare, slowly progressive, multisystem neurodegenerative disorder that usually affects children. It is characterized by the presence of eosinophilic neuronal intranuclear inclusions and neuronal loss. It results in abnormalities of the central, peripheral, and autonomic nervous systems. Patients present with ataxia, extra-pyramidal signs, absent deep tendon reflexes, weakness, muscle wasting, foot deformities, and behavioral or cognitive abnormalities. | SNOMEDCT_US_2016_09_01:A very rare multisystem neurodegenerative disorder characterised by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioural or cognitive difficulties. Most cases are sporadic. | SNOMEDCT_US_2016_09_01:A very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioral or cognitive difficulties. Most cases are sporadic. MSH2017_2016_08_12:C537395|OMIM2016_04_17:603472|SNOMEDCT_US_2016_09_01:715437003 C3495874 Non-epileptic seizure Non-epileptic seizure C1835671 Axonal neuropathy with palmoplantar keratoderma AXONAL NEUROPATHY WITH PALMOPLANTAR KERATODERMA | Axonal neuropathy with palmoplantar keratoderma | CHARCOT-MARIE-TOOTH DISEASE WITH PALMOPLANTAR KERATODERMA AND NAIL DYSTROPHY | Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy | KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY | Keratoderma palmoplantar spastic paralysis | Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy MSH2017_2016_08_12:C536153|OMIM2016_04_17:148360 C0268623 Tyrosinemia, type iii 4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease | 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease | 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE DEFICIENCY | 4-HYDROXYPHENYLPYRUVIC ACID OXIDASE DEFICIENCY | 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease | 4-Hydroxyphenylpyruvate Dioxygenase Deficiency | 4-Hydroxyphenylpyruvate dioxygenase deficiency | 4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder) | 4-Hydroxyphenylpyruvate hydroxylase deficiency | 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency | Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase | Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase | Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase | Deficiency of 4-hydroxyphenylpyruvate dioxygenase | Deficiency of 4-hydroxyphenylpyruvate dioxygenase (disorder) | Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase | Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate | Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate | Hereditary Tyrosinemia, Type III | TYROSINEMIA, TYPE III | TYRSN3 | Type III Tyrosinemia | Type III Tyrosinemias | Tyrosinaemia type 3 | Tyrosinaemia type III | Tyrosinemia type 3 | Tyrosinemia type III | Tyrosinemia type III (disorder) | Tyrosinemia, Type III | Tyrosinemias, Type III | tyrosinemia type III | tyrosinemia type III (diagnosis) MSH2017_2016_08_12:D020176|OMIM2016_04_17:276710|OMIM2016_04_17:609695|SNOMEDCT_US_2016_09_01:124210003|SNOMEDCT_US_2016_09_01:403001|SNOMEDCT_US_2016_09_01:413356003|SNOMEDCT_US_2016_09_01:415764005 C0035457 Rhinitis, allergic, perennial Non-seasonal Allergic Rhinitis | Non-seasonal allergic rhinitis | Nonseasonal allergic rhinitis | Perenial allergic rhinitis | Perennial Allergic Rhinitis | Perennial allergic rhinitis | Perennial allergic rhinitis (disorder) | Rhinitis, Allergic, Nonseasonal | Rhinitis, Allergic, Perennial | Rhinitis, Allergic, Perennial [Disease/Finding] | allergic; rhinitis, nonseasonal | atopic rhinitis | perennial allergic rhinitis | rhinitis; allergic, nonseasonal MSH2017_2016_08_12:Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc. | NCI2016_02D:Allergic rhinitis caused by indoor allergens and lasting year round. ICD10CM_2017:J30.89|MSH2017_2016_08_12:D012221|SNOMEDCT_US_2016_09_01:155537009|SNOMEDCT_US_2016_09_01:266386004|SNOMEDCT_US_2016_09_01:38103000|SNOMEDCT_US_2016_09_01:446096008 C4022676 Decreased female libido Decreased female libido | Decreased female sex drive HPO2016_07_04:Dminished sexual desire in female. [] HPO2016_07_04:HP:0030018 C0025061 Disease of mediastinum DISEASE OF MEDIASTINUM | DISEASES OF THE MEDIASTINUM | Disease of mediastinum | Disease of mediastinum (disorder) | Disease of mediastinum, NOS | Disease, Mediastinal | Diseases, Mediastinal | Disorder of mediastinum | Disorder of mediastinum (disorder) | Mediastinal Disease | Mediastinal Diseases | Mediastinal Diseases [Disease/Finding] | Mediastinal Disorder | Mediastinal Disorders | Mediastinal disease | Mediastinal disorder | Mediastinal disorder NOS | Mediastinal disorders | Mediastinal disorders (diagnosis) | Mediastinum--Diseases | disease (or disorder); mediastinum | mediastinal disease | mediastinum disease | mediastinum; disorder MSH2017_2016_08_12:Disorders of the mediastinum, general or unspecified. | NCI2016_02D:A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma. MSH2017_2016_08_12:D008477|SNOMEDCT_US_2016_09_01:49483002 C0023470 Myeloid leukemia Aleukaemic monocytic leukaemia [obs] | Aleukemic monocytic leukemia [obs] | Granulocytic Leukemia | Granulocytic Leukemias | Granulocytic leukaemia | Granulocytic leukaemia, NOS | Granulocytic leukemia | Granulocytic leukemia (disorder) | Granulocytic leukemia, NOS | LEUKAEMIA GRANULOCYTIC | LEUKAEMIA MYELOGENOUS | LEUKAEMIA MYELOID | LEUKEMIA GRANULOCYTIC | LEUKEMIA MYELOGENOUS | LEUKEMIA MYELOID | LEUKEMIA, GRANULOCYTIC, MALIGNANT | Leukaemia granulocytic | Leukaemia granulocytic NOS | Leukaemia myelogenous | Leukaemia myeloid | Leukemia Granulocytic | Leukemia Myeloid | Leukemia granulocytic | Leukemia granulocytic NOS | Leukemia myelogenous | Leukemia myeloid | Leukemia, Granulocytic | Leukemia, Myelocytic | Leukemia, Myelogenous | Leukemia, Myeloid | Leukemia, Myeloid [Disease/Finding] | Leukemias, Granulocytic | Leukemias, Myelocytic | Leukemias, Myelogenous | Leukemias, Myeloid | Leukemic granulocytic | MYELOID (GRANULOCYTIC) LEUKEMIAS | Myelocytic Leukemia | Myelocytic Leukemias | Myelocytic leukaemia | Myelocytic leukaemia, NOS | Myelocytic leukemia | Myelocytic leukemia, NOS | Myelogenous Leukemia | Myelogenous Leukemias | Myelogenous leukaemia | Myelogenous leukaemia, NOS | Myelogenous leukemia | Myelogenous leukemia, NOS | Myeloid Leukemia | Myeloid Leukemias | Myeloid leukaemia | Myeloid leukaemia (category) | Myeloid leukaemia - category | Myeloid leukaemia NOS | Myeloid leukaemia, NOS | Myeloid leukaemia, unspecified | Myeloid leukaemias | Myeloid leukemia | Myeloid leukemia (category) | Myeloid leukemia (disorder) | Myeloid leukemia - category | Myeloid leukemia - category (morphologic abnormality) | Myeloid leukemia NOS | Myeloid leukemia NOS (disorder) | Myeloid leukemia, NOS | Myeloid leukemia, disease (disorder) | Myeloid leukemia, disease [Ambiguous] | Myeloid leukemia, morphology (morphologic abnormality) | Myeloid leukemia, no ICD-O subtype (morphologic abnormality) | Myeloid leukemia, no International Classification of Diseases for Oncology subtype | Myeloid leukemia, no International Classification of Diseases for Oncology subtype (morphologic abnormality) | Myeloid leukemia, unspecified | Myeloid leukemia, unspecified NOS | Myeloid leukemias | Non-Lymphoblastic Leukemia | Non-Lymphocytic Leukemia | Non-lymphoblastic Leukemia | Non-lymphoblastic leukaemia NOS | Non-lymphoblastic leukemia NOS | Non-lymphocytic Leukemia | Non-lymphocytic leukaemia | Non-lymphocytic leukemia | Unspecified myeloid leukaemia | Unspecified myeloid leukemia | [M]Myeloid leukaemia NOS | [M]Myeloid leukaemias | [M]Myeloid leukemia NOS | [M]Myeloid leukemias | [M]Myeloid leukemias (morphologic abnormality) | granulocytic leukaemia | granulocytic leukemia | granulocytic; leukemia | leukaemia myelogenous | leukemia myelocytic | leukemia myelogenous | leukemia myeloid | leukemia; granulocytic | leukemia; myelocytic | leukemia; myeloid | myelocytic leukaemia | myelocytic leukemia | myelocytic; leukemia | myelogenous leukaemia | myelogenous leukemia | myelogenous leukemia (diagnosis) | myeloid granulocytic leukemia | myeloid leukaemia | myeloid leukemia | myeloid; leukemia | myelosis CSP2006:leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors in the bone marrow and other sites. | HPO2016_07_04:A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow. [HPO:probinson] | MSH2017_2016_08_12:Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (MYELOID PROGENITOR CELLS) in the bone marrow and other sites. | NCI2016_02D:A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia. | NCI2016_CDISC_1602D:A progressive, proliferative disease of blood cells, originating from immature granulocytes. HPO2016_07_04:HP:0012324|ICD10CM_2017:C92|ICD10CM_2017:C92.9|ICD10CM_2017:C92.90|ICD9CM_2014:205|ICD9CM_2014:205.9|MSH2017_2016_08_12:D007951|OMIM2016_04_17:MTHU052357|SNOMEDCT_US_2016_09_01:128934006|SNOMEDCT_US_2016_09_01:154587007|SNOMEDCT_US_2016_09_01:188732008|SNOMEDCT_US_2016_09_01:188743000|SNOMEDCT_US_2016_09_01:190047005|SNOMEDCT_US_2016_09_01:269631008|SNOMEDCT_US_2016_09_01:324170002|SNOMEDCT_US_2016_09_01:37810007|SNOMEDCT_US_2016_09_01:94717009 C1332557 Bladder clear cell adenocarcinoma Bladder Clear Cell Adenocarcinoma | Bladder Mesonephric Adenocarcinoma | Clear Cell Adenocarcinoma of Bladder | Clear Cell Adenocarcinoma of Urinary Bladder | Clear Cell Adenocarcinoma of the Bladder | Clear Cell Adenocarcinoma of the Urinary Bladder | Urinary Bladder Clear Cell Adenocarcinoma | clear cell adenocarcinoma of bladder | clear cell adenocarcinoma of bladder (diagnosis) NCI2016_02D:A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria. C3203359 Rupture Rupture | Rupture (morphologic abnormality) | Rupture [Disease/Finding] | Rupture, NOS | Ruptured | Ruptures | rupture | ruptured | ruptures | rupturing | serious tear | tear | tearing CHV2011_02:tear in organ or tissue | MSH2017_2016_08_12:Forcible or traumatic tear or break of an organ or other soft part of the body. | NCI2016_02D:Forcible tearing or disruption of tissue. | SCTSPA_2016_04_30:P茅rdida de la continuidad de los tejidos, no necesariamente debida a fuerzas externas; puede ser causada por debilidad de los tejidos o presiones internas excesivas | SNOMEDCT_US_2016_09_01:Disruption of continuity of tissue, not necessarily due to external forces; may be due to weakness in the tissue or excessive internal pressures MSH2017_2016_08_12:D012421|SNOMEDCT_US_2016_09_01:125671007|SNOMEDCT_US_2016_09_01:263896005|SNOMEDCT_US_2016_09_01:35933005 C1266138 Benign cystic nephroma Benign Cystic Nephroma | Benign cystic nephroma | Benign cystic nephroma (morphologic abnormality) | Cystic Nephroma | Cystic nephroma NCI2016_02D:A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid. OMIM2016_04_17:MTHU033179|SNOMEDCT_US_2016_09_01:128757006 C0405580 Adrenal cortical hypofunction ADRENAL CORTEX HYPOFUNCTION | ADRENAL CORTEX INSUFFIENCY | ADRENAL CORTICAL INSUFFICIENCY | ADRENAL INSUFFICIENCY CORTICAL | ADRENOCORTICAL INSUFFICIENCY | Adrenal Cortical Hypofunction | Adrenal Cortical Insufficiency | Adrenal Insufficiency | Adrenal cortex hypofunction | Adrenal cortex insufficiency | Adrenal cortex insuffiency | Adrenal cortical hypofunction | Adrenal cortical hypofunction (disorder) | Adrenal cortical hypofunction, NOS | Adrenal cortical hypofunctions | Adrenal cortical insufficiency | Adrenal insufficiency NOS | Adrenocortical Insufficiency | Adrenocortical hypofunction | Adrenocortical hypofunction, NOS | Adrenocortical insufficiency | Adrenocortical insufficiency syndrome | Corticoadrenal insuffic. NOS | Corticoadrenal insufficiency | Corticoadrenal insufficiency NOS | Corticoadrenal insufficiency NOS (disorder) | Corticoadrenal insufficiency, NOS | Hypoadrenocorticism | Hypoadrenocorticism, NOS | INSUFFICIENCY ADRENAL CORTEX | Insufficiency adrenal cortex | adrenal cortex insufficiency | adrenal cortex; deficiency | adrenal cortical hypofunction | adrenal cortical insufficiency | adrenal insufficiencies | adrenal insufficiency | adrenocortical hypofunction | corticoadrenal insufficiency | corticoadrenal insufficiency (diagnosis) | corticoadrenal; deficiency | corticoadrenal; hypofunction | deficiency; corticoadrenal | hypoadrenocorticism | hypofunction; adrenocortical NCI2016_02D:An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency). | NCI2016_CTCAE_1602D:A disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex as in Addison's disease or primary adrenal insufficiency. | NCI2016_NICHD_1602D:Diminished production of glucocorticoids. HPO2016_07_04:HP:0008207|ICD9CM_2014:255.4|OMIM2016_04_17:184757|SNOMEDCT_US_2016_09_01:154707007|SNOMEDCT_US_2016_09_01:190527008|SNOMEDCT_US_2016_09_01:267398003|SNOMEDCT_US_2016_09_01:267483004|SNOMEDCT_US_2016_09_01:386584007|SNOMEDCT_US_2016_09_01:68588005 C1335168 Ovarian mucinous tumor Mucinous Neoplasm of Ovary | Mucinous Neoplasm of the Ovary | Mucinous Tumor of Ovary | Mucinous Tumor of the Ovary | Ovarian Mucinous Neoplasm | Ovarian Mucinous Tumor | [M]Ovarian mucinous tumor | [M]Ovarian mucinous tumour NCI2016_02D:A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. SNOMEDCT_US_2016_09_01:189683008 C0267662 Congenital chloride diarrhea CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE | CHLORIDORRHEA, CONGENITAL | Chloridorrhea, congenital | Congenital chloride diarrhea | Congenital chloridorrhea | Congenital chloridorrhoea | Congenital secretory diarrhea, chloride type | Congenital secretory diarrhea, chloride type (disorder) | Congenital secretory diarrhoea, chloride type | DIAR1 | DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL | Darrow-Gamble disease | Defective Cl-/HCO-3 exchange in ileum AND/OR colon | Defective Cl-/HCO-3 exchange in ileum and colon | Defective Cl-/HCO-3 exchange in ileum AND/OR colon | Defective Cl-/HCO-3 exchange in ileum and colon | Defective Cl^-^/HCO^-^>3< exchange in ileum AND/OR colon | Defective Cl^-^/HCO^-^>3< exchange in ileum and colon | Diarrhea 1, secretory chloride, congenital MSH2017_2016_08_12:C536210|OMIM2016_04_17:126650|OMIM2016_04_17:214700|SNOMEDCT_US_2016_09_01:24412005 C2004521 Vitamin b12 deficiency anemia ANAEMIA B TWELVE DEFICIENCY | ANEMIA B TWELVE DEFICIENCY | ANEMIA B12 DEFICIENCY | ANEMIA COBALAMIN DEFICIENCY | ANEMIA DEFICIENCY VITAMIN B12 | ANEMIA, VITAMIN B12 DEFICIENCY | Anaemia B twelve deficiency | Anaemia B12 deficiency | Anaemia cobalamin deficiency | Anaemia vitamin B12 deficiency | Anaemia;vitamin B12 deficiency | Anemia B twelve deficiency | Anemia B12 deficiency | Anemia cobalamin deficiency | Anemia vitamin B12 deficiency | B12 DEFICIENCY ANEMIA | B12 deficiency anaemia | B12 deficiency anemia | Vit B12 defic anaemia, unsp | Vit B12 defic anemia, unsp | Vitamin B12 deficiency anaemia | Vitamin B12 deficiency anaemia, unspecified | Vitamin B12 deficiency anemia | Vitamin B12 deficiency anemia, unspecified | Vitamin B12 deficiency anaemia | Vitamin B12 deficiency anemia | Vitamin B>12< deficiency anaemia | Vitamin B>12< deficiency anemia | [X]Vit B12 defic anaemia, unsp | [X]Vit B12 defic anemia, unsp | [X]Vitamin B12 deficiency anaemia, unspecified | [X]Vitamin B12 deficiency anaemia, unspecified (disorder) | [X]Vitamin B12 deficiency anemia, unspecified | [X]Vitamin B12 deficiency anemia, unspecified (disorder) | anemia; deficiency vitamin B12 | b12 deficiency anemia | vitamin B12 deficiency anaemia | vitamin B12 deficiency anemia ICD10CM_2017:D51|ICD10CM_2017:D51.9|SNOMEDCT_US_2016_09_01:191140004|SNOMEDCT_US_2016_09_01:191144008|SNOMEDCT_US_2016_09_01:191414003|SNOMEDCT_US_2016_09_01:267555003|SNOMEDCT_US_2016_09_01:49472006 C0162703 Pain sensitivity PAIN SENSITIVITY | Pain Threshold | Pain Thresholds | Pain Tolerance | Pain Tolerance Level | Pain threshold | Pain threshold (observable entity) | Pain tolerance | Pain tolerance (observable entity) | Pain tolerance level | Pain tolerance level (observable entity) | Quality of pain sense | Sensitivity to pain | Threshold, Pain | Thresholds, Pain | pain sensitivity | pain threshold | pain tolerance | pain tolerances | sensitivity pain | sensitivity; pain CSP2006:lowest stimulus intensity that elicits a pain response. | MSH2017_2016_08_12:Amount of stimulation required before the sensation of pain is experienced. | NCI2016_02D:The degree of pain an individual can withstand. (Taber's) | NCI2016_02D:The minimum level of stimulation of a body part that a person will perceive as being noxious or unpleasant. (Taber's) | NCI2016_NCI-GLOSS_1602D:The point at which a person becomes aware of pain. MSH2017_2016_08_12:D017288|SNOMEDCT_US_2016_09_01:225781004|SNOMEDCT_US_2016_09_01:251586001|SNOMEDCT_US_2016_09_01:363835005 C0153259 Meningitis coccidioidal Coccidioidal meningitis | Coccidioidal meningitis (disorder) | Coccidioidomycosis meningitis | Coccidioidomycosis meningitis (diagnosis) | MENINGITIS COCCIDIOIDAL | Meningitis coccidioides | coccidioidal meningitis | coccidioidal meningitis (diagnosis) | coccidioidomycosis primary meningitis ICD10CM_2017:B38.4|ICD9CM_2014:114.2|SNOMEDCT_US_2016_09_01:46303000 C4024979 Ovarian papillary adenocarcinoma Ovarian papillary adenocarcinoma HPO2016_07_04:The presence of a papillary adenocarcinoma of the ovary. [HPO:probinson] HPO2016_07_04:HP:0006774 C1333064 Classical hodgkin's lymphoma CHL | Classical Hodgkin Lymphoma | Classical Hodgkin lymphoma NOS | Classical Hodgkin's Lymphoma | cHL | classical Hodgkin lymphoma NCI2016_02D:A monoclonal B-cell lymphoproliferation in the vast majority of cases. It is characterized by a bimodal age distribution (15-30 years of life and late life). Epstein-Barr virus has been postulated to play a role in the pathogenesis of classical Hodgkin lymphoma. Morphologically, it is characterized by the presence of Reed-Sternberg cells and mononuclear Hodgkin cells. The Reed-Sternberg and mononuclear Hodgkin cells are CD30 positive in nearly all cases and CD15 positive in the majority of cases. Four histologic subtypes have been distinguished: lymphocyte-rich, nodular sclerosis, mixed cellularity, and lymphocyte-depleted classical Hodgkin lymphoma. | NCI2016_NCI-GLOSS_1602D:The most common type of Hodgkin lymphoma, which is a cancer of the immune system. Classical Hodgkin lymphoma is marked by the presence of a type of cell called the Reed-Sternberg cell. ICD10CM_2017:C81.7 C0042928 Vocal cord paralysis Inability to move vocal cords | PARALYSIS VOCAL CORD | Palsies, Vocal Cord | Palsies, Vocal Fold | Palsy, Vocal Cord | Palsy, Vocal Fold | Paralyses, Vocal Cord | Paralysis of vocal cords | Paralysis of vocal cords or larynx, unspecified | Paralysis vocal cord | Paralysis, Vocal Cord | Total Vocal Cord Paralysis | Unspecified paralysis of vocal cords | VCP - Vocal cord palsy | VOCAL CORD PARALYSIS | Vocal Cord Palsies | Vocal Cord Palsy | Vocal Cord Paralyses | Vocal Cord Paralysis | Vocal Cord Paralysis [Disease/Finding] | Vocal Fold Palsies | Vocal Fold Palsy | Vocal cord palsy | Vocal cord palsy (disorder) | Vocal cord paralysis | Vocal cord paralysis syndrome | Vocal fold palsy | cord paralysis vocal | paralysis vocal cord | paralysis; vocal cords | vocal cord palsy | vocal cord paralysis | vocal cord paralysis (diagnosis) | vocal cord; paralysis | vocal cords paralysis | vocal fold palsy HPO2016_07_04:A loss of the ability to move the vocal folds. [HPO:probinson] | MSH2017_2016_08_12:Congenital or acquired paralysis of one or both VOCAL CORDS. This condition is caused by defects in the CENTRAL NERVOUS SYSTEM, the VAGUS NERVE and branches of LARYNGEAL NERVES. Common symptoms are VOICE DISORDERS including HOARSENESS or APHONIA. | NCI2016_02D:Paralysis of the muscles of one or both vocal cords. Signs and symptoms include hoarseness, weak voice, dyspnea, and coughing. Affected individuals are at risk for aspiration pneumonia. | NCI2016_NICHD_1602D:Nerve injury that results in inability to move the vocal cords. HPO2016_07_04:HP:0001605|ICD9CM_2014:478.30|MSH2017_2016_08_12:D014826|OMIM2016_04_17:MTHU014952|OMIM2016_04_17:MTHU025606|SNOMEDCT_US_2016_09_01:155542001|SNOMEDCT_US_2016_09_01:302912005|SNOMEDCT_US_2016_09_01:87424003 C1319466 Barber say syndrome BARBER-SAY SYNDROME | BBRSAY | BSS | Barber Say syndrome | Barber-Say Syndrome | Barber-Say syndrome | Barber-Say syndrome (disorder) | HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA | Hypertrichosis, atrophic skin, ectropion, and macrostomia MSH2017_2016_08_12:C537908|OMIM2016_04_17:209885|OMIM2016_04_17:607556|SNOMEDCT_US_2016_09_01:408537003 C0346013 Fibroepithelioma Basal cell carcinoma, fibroepithelial | Basal cell carcinoma, fibroepithelial (morphologic abnormality) | Basal cell carcinoma, fibroepithelial type | Fibroepithelial Basal Cell Carcinoma | Fibroepithelial basal cell carcinoma | Fibroepithelial basal cell carcinoma, Pinkus type | Fibroepithelioma | Fibroepithelioma of Pinkus | Fibroepithelioma of Pinkus (diagnosis) | Fibroepithelioma of Pinkus (disorder) | Fibroepithelioma of Pinkus type | Fibroepithelioma of pinkus | Pinkus Tumor | Pinkus tumor | Pinkus tumour | Skin Fibroepithelial Basal Cell Carcinoma | fibroepithelioma | fibroepithelioma of pinkus | fibroepithelioma pinkus | pinkus tumor | pinkus tumour | skin neoplasm malignant carcinoma basal cell fibroepithelioma of pinkus NCI2016_02D:A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course. SNOMEDCT_US_2016_09_01:254703005|SNOMEDCT_US_2016_09_01:43369006 C1856718 Fleck retina, familial benign FLECK RETINA, FAMILIAL BENIGN | FRFB | Fleck Retina, Familial Benign MSH2017_2016_08_12:C565564|OMIM2016_04_17:228980|OMIM2016_04_17:601192 C0269133 Urethrovaginal fistula UVF - Urethrovaginal fistula | Urethral fistula to vagina | Urethrovaginal fistula | Urethrovaginal fistula (disorder) | Urethrovaginal fistulae | fistula; urethrovaginal | urethrovaginal fistula | urethrovaginal fistula (diagnosis) | urethrovaginal; fistula HPO2016_07_04:The presence of a fistula between the vagina and the urethra. [HPO:probinson] HPO2016_07_04:HP:0008716|ICD10CM_2017:N82.1|OMIM2016_04_17:MTHU012059|SNOMEDCT_US_2016_09_01:50477003 C4054550 Medullary cystic kidney disease type ii Medullary Cystic Kidney Disease Type II NCI2016_02D:An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein.(NICHD) | NCI2016_NICHD_1602D:An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein. C0272104 Stokvis Autotoxic cyanosis | Enterogenous cyanosis | Stokvis | Stokvis' disease | Stokvis' disease (disorder) | Stokvis-Talma syndrome | cyanosis; enterogenous | enterogenous; cyanosis | van den Bergh's disease SNOMEDCT_US_2016_09_01:191386007|SNOMEDCT_US_2016_09_01:57020009 C3897536 Stage iib rectal cancer Stage IIB Rectal Cancer | Stage IIB Rectal Cancer AJCC v7 NCI2016_02D:Stage IIB includes: T4a, N0, M0. T4a: Tumor penetrates to the surface of the visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.) C0279751 Adenoid cystic carcinoma of salivary gland Adenoid Cystic Carcinoma of Salivary Gland | Adenoid Cystic Carcinoma of the Salivary Gland | Adenoid cystic carcinoma of salivary gland | Adenoid cystic carcinoma of salivary gland (disorder) | Salivary Gland Adenoid Cystic Carcinoma | adenoid cystic carcinoma of salivary gland | adenoid cystic carcinoma of salivary gland (diagnosis) | adenoid cystic carcinoma, salivary gland | cancer of the salivary gland, adenoid cystic carcinoma | carcinoma of the salivary gland, adenoid cystic carcinoma | salivary gland adenoid cystic carcinoma NCI2016_02D:An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver. SNOMEDCT_US_2016_09_01:422833009 C0543541 Hyperglycinuria (disorder) GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS | GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS | Glycinuria with or without Oxalate Nephrolithiasis | Glycinuria with or without Oxalate Urolithiasis | HYPERGLYCINURIA | HYPERGLYCINURIA (disorder) | Hyperglycinuria | IMINOGLYCINURIA TYPE II | Iminoglycinuria Type II | Iminoglycinuria, type II HPO2016_07_04:An increased concentration of glycine in the urine. [HPO:gcarletti, pmid:18901181, pmid:20240447] HPO2016_07_04:HP:0003108|MSH2017_2016_08_12:C563009|OMIM2016_04_17:138500|OMIM2016_04_17:605616|OMIM2016_04_17:608331|OMIM2016_04_17:608893|OMIM2016_04_17:MTHU004229 C1272677 Benign mixed epithelial and stromal tumor of kidney Adult Mesoblastic Nephroma | Benign MEST | Benign Mixed Epithelial Stromal Tumor of the Kidney | Benign mixed epithelial and stromal tumor of kidney | Benign mixed epithelial and stromal tumor of kidney (morphologic abnormality) | Benign mixed epithelial and stromal tumour of kidney | MEST | Mixed Epithelial Stromal Tumor of the Kidney | Mixed epithelial and stromal tumor of kidney | Mixed epithelial and stromal tumour of kidney NCI2016_02D:A rare, benign neoplasm that most often manifests as a multiloculated cystic renal mass. It is characterized by the presence of solid and cystic components. The solid components contain a mixture of epithelial and stromal elements. | NCI2016_02D:A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria. SNOMEDCT_US_2016_09_01:388985009 C1855179 Cataract, anterior polar Anterior polar cataract | Anterior polar cataracts 1 | CAP | CATARACT, ANTERIOR POLAR | CATARACT, ANTERIOR POLAR, 1 | CTAA1 | Cataract anterior polar | Cataract anterior polar dominant | Cataract, Anterior Polar | Cataract, Anterior Polar, 1 | Cataract, anterior polar HPO2016_07_04:A polar cataract that affects the anterior pole of the lens. [HPO:probinson] HPO2016_07_04:HP:0001134|MSH2017_2016_08_12:C538282|OMIM2016_04_17:115650|OMIM2016_04_17:MTHU011542|OMIM2016_04_17:MTHU042643 C0877755 Stiffness of joint, nec, involving other specified sites in mdr Stiffness of joint, NEC, involving other specified sites in MDR | Stiffness of joint, not elsewhere classified, involving other specified sites C0263506 Abscedens capitis perifolliculitis DISSECTING CELLULITIS OF THE SCALP | Dissecting Cellulitis of the Scalp | Dissecting cellulitis of scalp | Dissecting perifolliculitis of scalp | Folliculitis abscedens et suffodiens | Folliculitis, abscedens et suffodiens | PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL | Perifolliculitis Capitis Abscedens Et Suffodiens, Familial | Perifolliculitis capitis abscd | Perifolliculitis capitis abscedens | Perifolliculitis capitis abscedens (disorder) | Perifolliculitis capitis abscedens et suffodiens | Perifolliculitis capitis abscedens et suffodiens (disorder) | Perifolliculitis of scalp | Perifolliculitis of scalp (disorder) | Perifolliculitis of the scalp | Perifolliculitis of the scalp (disorder) | Perifolliculitis of the scalp -RETIRED- | Scalp perifolliculitis | abscedens capitis perifolliculitis | capitis abscedens; perifolliculitis | cellulitis dissecting scalp | folliculitis; abscedens et suffodiens | perifolliculitis capitis abscedens et suffodiens | perifolliculitis capitis abscedens et suffodiens (diagnosis) | perifolliculitis; capitis abscedens ICD10CM_2017:L66.3|MSH2017_2016_08_12:C562486|OMIM2016_04_17:260910|SNOMEDCT_US_2016_09_01:123047001|SNOMEDCT_US_2016_09_01:201181005|SNOMEDCT_US_2016_09_01:201182003|SNOMEDCT_US_2016_09_01:77333008 C0269038 Salpingitis, acute Acute Salpingitis | Acute salpingitis | Acute salpingitis (disorder) | SALPINGITIS, ACUTE | Salpingitis acute NOS | Salpingitis;acute | acute salpingitis | acute salpingitis (diagnosis) | acute; salpingitis | salpingitis acute | salpingitis; acute NCI2016_02D:Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. ICD10CM_2017:N70.01|SNOMEDCT_US_2016_09_01:8912009 C0014170 Endometrial neoplasms ENDOMETRIAL NEOPLASIA | Endometrial Neoplasm | Endometrial Neoplasms | Endometrial Neoplasms [Disease/Finding] | Endometrial Tumor | Endometrial neoplasia | Endometrial neoplasm | Endometrial neoplasm NOS | Endometrium Neoplasm | Endometrium Tumor | NEOPLASM ENDOMETRIUM | Neoplasm endometrium | Neoplasm of Endometrium | Neoplasm of endometrium | Neoplasm of endometrium (disorder) | Neoplasm of the Endometrium | Neoplasm, Endometrial | Neoplasms, Endometrial | Tumor of Endometrium | Tumor of the Endometrium | endometrial neoplasm | endometrial neoplasms | neoplasm of endometrium | neoplasm of endometrium (diagnosis) MSH2017_2016_08_12:Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells. | NCI2016_02D:A benign, borderline, or malignant neoplasm that affects the endometrium. MSH2017_2016_08_12:D016889|SNOMEDCT_US_2016_09_01:123844007 C4015183 Diabetes mellitus, noninsulin-dependent, 5 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5 | NIDDM5 OMIM2016_04_17:612465|OMIM2016_04_17:616087 C4025810 Abnormal palmar dermatoglyphics Abnormal palmar dermatoglyphics HPO2016_07_04:An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. [HPO:probinson] HPO2016_07_04:HP:0001018 C0406409 Aquagenic pruritis Aquagenic pruritis | Aquagenic pruritus | Aquagenic pruritus (disorder) | Water-induced itching SNOMEDCT_US_2016_09_01:201026001|SNOMEDCT_US_2016_09_01:238695001 C1960100 Shellfish poisoning Poisoning, Shellfish | Poisonings, Shellfish | Shellfish -toxic effect | Shellfish Poisoning | Shellfish Poisoning [Disease/Finding] | Shellfish Poisonings | Shellfish poisoning | Shellfish toxic effect | Shellfish toxic effect (disorder) | Toxic effect from eating shellfish | Toxic effect from eating shellfish (disorder) | Toxic effect from eating shellfish, NOS | food toxicity to shellfish | food toxicity to shellfish (diagnosis) | toxicity to shellfish MSH2017_2016_08_12:Poisoning from toxins present in bivalve mollusks that have been ingested. Four distinct types of shellfish poisoning are recognized based on the toxin involved. MSH2017_2016_08_12:D057096|SNOMEDCT_US_2016_09_01:157703004|SNOMEDCT_US_2016_09_01:212864007|SNOMEDCT_US_2016_09_01:367375005|SNOMEDCT_US_2016_09_01:426487006|SNOMEDCT_US_2016_09_01:53069007 C3278509 Spinal fusion Spinal fusion | Vertebral fusion | Vertebral fusions HPO2016_07_04:A developmental defect leading to the union of two adjacent vertebrae. [HPO:probinson] HPO2016_07_04:HP:0002948|OMIM2016_04_17:MTHU018362|OMIM2016_04_17:MTHU036811|OMIM2016_04_17:MTHU037764 C0343802 Chagas' exanthem Chagas' exanthem | Chagas' exanthem (disorder) SNOMEDCT_US_2016_09_01:240656001 C2750815 Marie unna hereditary hypotrichosis 1 HYPOTRICHOSIS 4 | HYPOTRICHOSIS, MARIE UNNA TYPE, 1 | HYPT4 | Hypotrichosis 4 | Hypotrichosis, Marie Unna Type, 1 | MARIE UNNA HEREDITARY HYPOTRICHOSIS 1 | MUHH1 | Marie Unna Hereditary Hypotrichosis 1 MSH2017_2016_08_12:C567718|OMIM2016_04_17:146550|OMIM2016_04_17:602302 C0206231 Bone malalignment Bone Malalignment | Bone Malalignment [Disease/Finding] | Bone Malalignments | Bone Malposition | Bone Malpositions | Bone Misalignment | Bone Misalignments | Malalignment, Bone | Malposition, Bone | Misalignment, Bone MSH2017_2016_08_12:Displacement of bones out of line in relation to joints. It may be congenital or traumatic in origin. MSH2017_2016_08_12:D017760 C1852150 Fingerprints, absence of ADERM | ADERMATOGLYPHIA | Adermatoglyphia | FINGERPRINTS, ABSENCE OF | Fingerprints, Absence of HPO2016_07_04:HP:0007455|MSH2017_2016_08_12:C565010|OMIM2016_04_17:136000|OMIM2016_04_17:612761|OMIM2016_04_17:MTHU018619 C0745074 Hydronephrosis fetus HYDRONEPHROSIS FETUS C0341559 Somatoform autonomic dysfunction gastrointestinal tract psychogenic constipation Psychogenic constipation | Psychogenic constipation (diagnosis) | Psychogenic constipation (disorder) | Psychogenic constipation (finding) | Psychogenic constipation [dup] (finding) | somatoform autonomic dysfunction gastrointestinal tract psychogenic constipation SNOMEDCT_US_2016_09_01:191973007|SNOMEDCT_US_2016_09_01:33011009 C0272137 Tn syndrome GALACTOSYLTRANSFERASE DEFICIENCY | Galactosyltransferase Deficiency | Polyagglutinable erythrocyte syndrome | Polyagglutinable erythrocyte syndrome (disorder) | TN POLYAGGLUTINATION SYNDROME | TN syndrome | TNPS | Tn Syndrome MSH2017_2016_08_12:C562719|OMIM2016_04_17:300622|SNOMEDCT_US_2016_09_01:40387008 C0262401 Carcinoma of ampulla of vater AMPULLA VATER CANCER, CARCINOMA | AMPULLA VATER CARCINOMA | Ampulla of Vater Cancer | Ampulla of Vater Carcinoma | Ampullary Carcinoma | Ampullary carcinoma | CARCINOMA OF AMPULLA OF VATER | Carcinoma ampulla of Vater | Carcinoma of ampulla of Vater | Carcinoma of ampulla of Vater (diagnosis) | Carcinoma of ampulla of Vater (disorder) | ampulla of Vater cancer | ampullary cancer | ampullary carcinoma | carcinoma of ampulla of vater | pancreatic neoplasm malignant carcinoma ampulla of vater NCI2016_02D:A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. | NCI2016_NCI-GLOSS_1602D:Cancer that forms in the ampulla of Vater (an enlargement of the ducts from the liver and pancreas where they join and enter the small intestine). Symptoms include jaundice, abdominal pain, nausea, vomiting, and weight loss. SNOMEDCT_US_2016_09_01:254609000 C3553354 Coenzyme q10 deficiency, primary, 2 COENZYME Q10 DEFICIENCY, PRIMARY, 2 | COQ10D2 OMIM2016_04_17:614651 C0206669 Hepatocellular adenoma ADENOMA LIVER | ADENOMA, HEPATOCELLULAR, BENIGN | Adenoma liver | Adenoma of Liver Cells | Adenoma of liver | Adenoma of liver (disorder) | Adenoma of the Liver Cells | Adenoma, Hepatocellular | Adenoma, Liver Cell | Adenoma, Liver Cell [Disease/Finding] | Adenoma;hepatic | Adenomas, Hepatocellular | Adenomas, Liver Cell | Benign Hepatoma | Benign Hepatomas | Benign hepatoma | HCA | HCA - Hepatocellular adenoma | HEPATOCELLULAR ADENOMA | HEPATOCELLULAR ADENOMAClostridium difficile (C. difficile) is a bacterium that causes diarrhea and more serious intestinal conditions such as colitis. Symptoms include
You might get C. difficile disease if you have an illness that requires prolonged use of antibiotics. Increasingly, the disease can also be spread in the hospital. The elderly are also at risk. Treatment is with antibiotics.
Centers for Disease Control and Prevention
| NCI2016_02D:A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated. | NCI2016_NICHD_1602D:An infection of the large intestine by the bacterium C. difficile. SNOMEDCT_US_2016_09_01:186431008|SNOMEDCT_US_2016_09_01:389981005 C1838161 Aphalangia, partial, with syndactyly and duplication of metatarsal iv APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV | Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV MSH2017_2016_08_12:C563942|OMIM2016_04_17:600384 C2114600 Primary snoring primary snoring | primary snoring (diagnosis) C3552335 Myasthenic syndrome, congenital, 12 CMS12 | CMSTA1 | MYASTHENIC SYNDROME, CONGENITAL, 12 | MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1 OMIM2016_04_17:138292|OMIM2016_04_17:610542 C0023804 Lipomatosis, multiple symmetrical Cephalothoracic Lipodystrophies | Cephalothoracic Lipodystrophy | LIPODYSTROPHY, CEPHALOTHORACIC | LIPOMATOSIS, MULTIPLE SYMMETRIC | LMS - Multiple symmetrical lipomatosis | Lipodystrophies, Cephalothoracic | Lipodystrophy, Cephalothoracic | Lipomatoses, Multiple Symmetric | Lipomatoses, Multiple Symmetrical | Lipomatosis, Multiple Symmetric | Lipomatosis, Multiple Symmetrical | Lipomatosis, Multiple Symmetrical [Disease/Finding] | MSL | Multiple Symmetric Lipomatoses | Multiple Symmetric Lipomatosis | Multiple Symmetrical Lipomatoses | Multiple Symmetrical Lipomatosis | Multiple symmetric lipomatosis | Multiple symmetrical lipomatosis | Multiple symmetrical lipomatosis (disorder) | Symmetric Lipomatoses, Multiple | Symmetric Lipomatosis, Multiple | Symmetrical Lipomatoses, Multiple | Symmetrical Lipomatosis, Multiple MSH2017_2016_08_12:A condition characterized by the growth of unencapsulated masses of ADIPOSE TISSUE symmetrically deposited around the neck, shoulders, or other sites around the body. MSH2017_2016_08_12:D008069|OMIM2016_04_17:151800|SNOMEDCT_US_2016_09_01:238902007|SNOMEDCT_US_2016_09_01:254832003 C2931135 Blepharophimosis syndrome type 1 Blepharophimosis syndrome type 1 | Blepharophimosis, ptosis, epicanthus inversus type 1 | Blepharophimosis, ptosis, epicanthus inversus with ovarian failure MSH2017_2016_08_12:C536233 C1850438 Postural hypotension with compensatory tachycardia Postural hypotension with compensatory tachycardia HPO2016_07_04:HP:0005307|OMIM2016_04_17:MTHU010608 C0342527 Deficiency of testosterone biosynthesis ANDROGEN DEFICIENCY | Androgen deficiency | Androgen deficiency, NOS | Androgen insufficiency | Defect of testicular androgen synthesis | Defective biosynthesis of testicular androgen | Defective biosynthesis of testicular androgen NOS | Defective biosynthesis of testicular androgen, NOS | Deficiency of testosterone biosynthesis | Deficiency of testosterone biosynthesis (disorder) | Deficiency of testosterone biosynthesis, NOS | Hypoandrogenism | Hypoandrogenism (disorder) | Testosterone Biosynthesis Deficiency | androgen deficiency HPO2016_07_04:Insufficient amount of androgenic activity. [HPO:probinson] | NCI2016_02D:Inadequate production of circulating testosterone. HPO2016_07_04:HP:0008226|ICD10CM_2017:E29.1|SNOMEDCT_US_2016_09_01:38825009 C0742115 Cerebritis CEREBRITIS | Cerebritis | cerebritis C3554439 Alazami syndrome ALAZAMI SYNDROME | ALAZS | FACIAL DYSMORPHISM, INTELLECTUAL DISABILITY, AND PRIMORDIAL DWARFISM OMIM2016_04_17:612026|OMIM2016_04_17:615071 C1854465 Tuberous sclerosis 1 (disorder) TSC1 | TUBEROUS SCLEROSIS 1 | TUBEROUS SCLEROSIS 1 (disorder) | Tuberous Sclerosis 1 NCI2016_02D:Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene). MSH2017_2016_08_12:C565346|OMIM2016_04_17:191100|OMIM2016_04_17:605284 C4020691 Partial/complete duplication of the phalanges of the hallux Partial/complete duplication of the phalanges of the hallux HPO2016_07_04:HP:0010066 C0238590 Acrogeria ACROGERIA | Acrogeria | Acrogeria (disorder) | Gottron's syndrome SNOMEDCT_US_2016_09_01:238872007 C0270837 Automatism epileptic AUTOMATISM EPILEPTIC | Absence, automatism | Automatism absence | Automatism epileptic | Automatism petit mal | Automatism, epileptic | Complex partial seizure with automatisms | Complex partial seizure with automatisms (disorder) | Complex partial seizures with automatisms | Complex partial seizures with automatisms (finding) | Epileptic automatism | Epileptic automatism (disorder) | Epileptic complex partial seizures with automatisms | Petit mal, automatism | automatism; epileptic | epileptic; automatism SNOMEDCT_US_2016_09_01:193004006|SNOMEDCT_US_2016_09_01:246543009|SNOMEDCT_US_2016_09_01:73714002 C0413239 Drug-aggravated angio-edema-urticaria Drug-aggravated angio-edema-urticaria | Drug-aggravated angio-oedema-urticaria | Drug-aggravated angioedema-urticaria | Drug-aggravated angioedema-urticaria (disorder) | Drug-induced angio-edema-urticaria | Drug-induced angio-oedema-urticaria | Drug-induced angioedema-urticaria | Pharmacological-aggravated urticaria SNOMEDCT_US_2016_09_01:241958006 C0020627 Hypopharyngeal neoplasms Hypopharyngeal Neoplasm | Hypopharyngeal Neoplasms | Hypopharyngeal Neoplasms [Disease/Finding] | Hypopharyngeal Tumor | Hypopharyngeal neoplasm | Neoplasm of Hypopharynx | Neoplasm of hypopharynx | Neoplasm of hypopharynx (disorder) | Neoplasm of the Hypopharynx | Neoplasm, Hypopharyngeal | Neoplasms, Hypopharyngeal | Tumor of Hypopharynx | Tumor of hypopharynx | Tumor of laryngopharynx | Tumor of the Hypopharynx | Tumour of hypopharynx | Tumour of laryngopharynx | neoplasm of hypopharynx | neoplasm of hypopharynx (diagnosis) MSH2017_2016_08_12:Tumors or cancer of the HYPOPHARYNX. | NCI2016_02D:A benign or malignant neoplasm that affects the hypopharynx. MSH2017_2016_08_12:D007012|SNOMEDCT_US_2016_09_01:126686005 C3810090 L-ferritin deficiency L-FERRITIN DEFICIENCY | LFTD OMIM2016_04_17:615604 C1856203 Microdontia of primary teeth Decreased width of baby teeth | Decreased width of deciduous teeth | Decreased width of milk teeth | Decreased width of primary tooth | Microdontia of deciduous teeth | Microdontia of primary teeth | Small deciduous teeth | microdontia of primary teeth | microdontia of primary teeth (diagnosis) | microdontia of primary teeth (physical finding) | microdontia primary teeth | teeth anomaly microdontia primary teeth HPO2016_07_04:Decreased size of the primary teeth. [HPO:ibailleulforestier] HPO2016_07_04:HP:0006347|OMIM2016_04_17:MTHU012541|OMIM2016_04_17:MTHU045337 C0007020 Carbon monoxide poisoning CARBON MONOXIDE POISONING | CO Poisoning | CO poisoning | Carbon Monoxide Poisoning | Carbon Monoxide Poisoning [Disease/Finding] | Carbon Monoxide Poisonings | Carbon monoxide poisoning | Carbon monoxide poisoning syndrome | Monoxide Poisoning, Carbon | Monoxide Poisonings, Carbon | Poisoning, Carbon Monoxide | Poisonings, Carbon Monoxide | carbon monoxide poison | carbon monoxide poisoning | carbon monoxide toxicity | poisoning by carbon monoxide | poisoning by carbon monoxide (diagnosis) CSP2006:toxic asphyxiation due to the displacement of oxygen from oxyhemoglobin by carbon monoxide. | MEDLINEPLUS_20151021:Carbon monoxide (CO) is a gas that has no odor or color. But it is very dangerous. It can cause sudden illness and death. CO is found in combustion fumes, such as those made by cars and trucks, lanterns, stoves, gas ranges and heating systems. CO from these fumes can build up in places that don't have a good flow of fresh air. You can be poisoned by breathing them in. The most common symptoms of CO poisoning are
It is often hard to tell if someone has CO poisoning, because the symptoms may be like those of other illnesses. People who are sleeping or intoxicated can die from CO poisoning before they have symptoms. A CO detector can warn you if you have high levels of CO in your home.
Centers for Disease Control and Prevention
| MSH2017_2016_08_12:Toxic asphyxiation due to the displacement of oxygen from oxyhemoglobin by carbon monoxide. MSH2017_2016_08_12:D002249|SNOMEDCT_US_2016_09_01:17383000 C0030793 Pelvis tumor Neoplasm of pelvis | Neoplasm of pelvis (disorder) | Neoplasm, Pelvic | Neoplasm, Pelvis | Neoplasms of Pelvis | Neoplasms, Pelvic | Neoplasms, Pelvis | PELVIS TUMOR | Pelvic Neoplasm | Pelvic Neoplasms | Pelvic Neoplasms [Disease/Finding] | Pelvic neoplasm | Pelvic neoplasm NOS | Pelvic tumor | Pelvic tumour | Pelvis Neoplasm | Pelvis Neoplasms | Pelvis--Tumors | Tumor of pelvis | Tumour of pelvis | neoplasm of pelvis (diagnosis) | pelvi tumors | pelvic neoplasm | pelvic neoplasms | pelvic tumor | pelvic tumors | pelvic tumour | pelvis neoplasm | pelvis tumors | tumor of pelvis CSP2006:new abnormal tissue of the pelvic region that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease. | MSH2017_2016_08_12:Tumors or cancer of the pelvic region. MSH2017_2016_08_12:D010386|SNOMEDCT_US_2016_09_01:126644004 C0854835 Angioimmunoblastic t-cell lymphoma stage i Angioimmunoblastic T-Cell Lymphoma Stage I | Angioimmunoblastic T-cell lymphoma stage I | Stage I Angioimmunoblastic T-cell Lymphoma NCI2016_02D:Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).- 2003 C4225214 Woolly hair, autosomal recessive 3 ARWH3 | WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 OMIM2016_04_17:616646|OMIM2016_04_17:616760 C3810067 Congenital disorder of glycosylation, type ix CDG Ix | CDG1X | CDGIx | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix OMIM2016_04_17:615597 C0020522 Delayed hypersensitivity CELL MEDIATED IMMUNOLOGICAL REACTION | CELL-MEDIATED IMMUNOLOGICAL REACT | Cell mediated immune reaction | Cell mediated immunological reaction | Cell-mediated immune reaction | Cell-mediated immune reaction (disorder) | Cell-mediated immunological react | Cell-mediated immunological reaction | DTH | Delayed Hypersensitivities | Delayed Hypersensitivity | Delayed Hypersensitivity Reaction | Delayed hypersensitivity | Delayed hypersensitivity reaction | Delayed type hypersensitivity | Delayed-Type Hypersensitivity | Delayed-Type Hypersensitivity Response | Gell and Coombs reaction type IV | Hypersensitivities, Delayed | Hypersensitivities, Tuberculin-Type | Hypersensitivities, Type IV | Hypersensitivity reaction type IV | Hypersensitivity, Delayed | Hypersensitivity, Delayed [Disease/Finding] | Hypersensitivity, Tuberculin Type | Hypersensitivity, Tuberculin-Type | Hypersensitivity, Type IV | Tuberculin Type Hypersensitivity | Tuberculin-Type Hypersensitivities | Tuberculin-Type Hypersensitivity | Type 4 Hypersensitivity Reaction | Type 4 hypersensitivity reaction | Type IV Hypersensitivities | Type IV Hypersensitivity | Type IV Hypersensitivity Reaction | Type IV hypersensitivity reaction | cell mediated hypersensitivity | delayed hypersensitivity | delayed hypersensitivity reaction | delayed hypersensitivity reactions | delayed hypersensitivity response | delayed type hypersensitivity | delayed-type hypersensitivity | delayed-type hypersensitivity response | hypersensitivity iv type | hypersensitivity type iv | tuberculin type hypersensitivity | type IV hypersensitivity | type iv hypersensitivity CSP2006:increased reactivity to specific antigens mediated not by antibodies but by cells. | GO2016_05_01:An inflammatory response driven by T cell recognition of processed soluble or cell-associated antigens leading to cytokine release and leukocyte activation. [GOC:add, ISBN:0781735149] | MSH2017_2016_08_12:An increased reactivity to specific antigens mediated not by antibodies but by cells. | NCI2016_02D:Delayed hypersensitivity reaction (DTH) - type IV reaction, an inflammatory response that develops 24 to 72 hours after exposure to an antigen that the immune system recognizes as foreign. DTH is mediated by T cells rather than by antibodies. Th1 cells produce interferon gamma, interleukin (IL)-2, and tumor necrosis factor-beta and promote a cell-mediated immune response. | NCI2016_NCI-GLOSS_1602D:An inflammatory response that develops 24 to 72 hours after exposure to an antigen that the immune system recognizes as foreign. This type of immune response involves mainly T cells rather than antibodies (which are made by B cells). | NCI2016_NICHD_1602D:A hypersensitivity reaction triggered by sensitized T lymphocytes encountering antigens. These reactions usually develop 18 to 24 hours after exposure. MSH2017_2016_08_12:D006968|SNOMEDCT_US_2016_09_01:28031001 C1710173 Squamous cell lung carcinoma, basaloid variant Squamous Cell Lung Carcinoma, Basaloid Variant NCI2016_02D:A morphologic variant of squamous cell lung carcinoma characterized by nuclear palisading. C0334500 Giant fibroadenoma Giant fibroadenoma | Giant fibroadenoma (disorder) | Giant fibroadenoma (morphologic abnormality) | Giant intracanalicular fibroadenoma | [M] Giant fibroadenoma | [M]Giant fibroadenoma SNOMEDCT_US_2016_09_01:189827005|SNOMEDCT_US_2016_09_01:34882000 C0175754 Agenesis of corpus callosum ACC | ACC - Agenesis of corpus callosum | Absence of Corpus Callosum | Absence of corpus callosum | Absence of the corpus callosum | Absent corpus callosum | Ageneses, Corpus Callosum | Agenesis corpus callosum | Agenesis of Corpus Callosum | Agenesis of Corpus Callosum [Disease/Finding] | Agenesis of corpus callosum | Agenesis of corpus callosum (disorder) | Agenesis of the corpus callosum | Agenesis, Corpus Callosum | CORPUS CALLOSUM AGENESIS | CORPUS CALLOSUM, AGENESIS | CORPUS CALLOSUM, AGENESIS OF | Callosal agenesis | Congenital absence of corpus callosum | Corpus Callosum Absence | Corpus Callosum Absences | Corpus Callosum Ageneses | Corpus Callosum Agenesis | Corpus Callosum Dysgeneses | Corpus Callosum Dysgenesis | Corpus Callosum Hypogeneses | Corpus Callosum Hypogenesis | Corpus Callosum, Agenesis Of | Corpus callosum agenesis | Dysgeneses, Corpus Callosum | Dysgenesis, Corpus Callosum | Dysplastic or absent corpus callosum | Hypogeneses, Corpus Callosum | Hypogenesis of corpus callosum | Hypogenesis, Corpus Callosum | absence; corpus callosum | agenesis callosum corpus | agenesis corpus callosum | agenesis of corpus callosum | agenesis of corpus callosum (diagnosis) | agenesis; corpus callosum | corpus callosum agenesis | corpus callosum; absent | corpus callosum; agenesis HPO2016_07_04:Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. [HPO:curators] | MSH2017_2016_08_12:Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity. | NCI2016_02D:A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment. HPO2016_07_04:HP:0001274|ICD10CM_2017:Q04.0|MSH2017_2016_08_12:D061085|OMIM2016_04_17:217990|OMIM2016_04_17:MTHU000061|OMIM2016_04_17:MTHU001604|OMIM2016_04_17:MTHU004110|OMIM2016_04_17:MTHU005338|OMIM2016_04_17:MTHU007063|OMIM2016_04_17:MTHU012138|OMIM2016_04_17:MTHU022910|OMIM2016_04_17:MTHU031863|OMIM2016_04_17:MTHU051057|SNOMEDCT_US_2016_09_01:5102002 C4020889 Cornela disease Cornela disease HPO2016_07_04:HP:0000481 C0027664 Neoplasms, muscle tissue Muscle Tissue Neoplasm | Muscle Tissue Neoplasms | Neoplasm, Muscle Tissue | Neoplasms, Muscle Tissue | Neoplasms, Muscle Tissue [Disease/Finding] MSH2017_2016_08_12:Neoplasms composed of muscle tissue: skeletal, cardiac, or smooth. The concept does not refer to neoplasms located in muscles. MSH2017_2016_08_12:D009379 C0151594 Hemorrhagic diarrhea BLOODY DIARRHEA | Bloody diarrhea | Bloody diarrhea (finding) | Bloody diarrhoea | DIARRHEA BLOODY | DIARRHEA, BLOODY | DIARRHOEA BLOODY | Diarrhea bloody | Diarrhea hemorrhagic | Diarrhea, bloody | Diarrhoea bloody | Diarrhoea haemorrhagic | Haemorrhagic diarrhoea | Hemorrhagic diarrhea | Hemorrhagic diarrhea (disorder) | bloody diarrhea | bloody diarrhea (symptom) | bloody diarrhoea OMIM2016_04_17:MTHU014613|OMIM2016_04_17:MTHU035653|SNOMEDCT_US_2016_09_01:95545007 C0001403 Addison disease ADDISON DISEASE | ADDISON'S DISEASE | ADRENAL INSUFFICIENCY (ADDISON'S DISEASE) | ADRENOCORTICAL INSUFFICIENCY, PRIMARY FAILURE | Addison Disease | Addison Disease [Disease/Finding] | Addison disease | Addison's Disease | Addison's disease | Addison's disease (disorder) | Addison's disease NOS | Addison's disease [Ambiguous] | Addison's disease, NOS | Addison's disease, NOS (disorder) | Addison; disease or syndrome | Addisons Disease | Addisons disease | Adrenal Insufficiency, Primary | Adrenal insufficiency (Addison disease) | Adrenocortical Insufficiencies, Primary | Adrenocortical Insufficiency, Primary | Chronic Primary Adrenal Insufficiency | DISEASE ADDISON'S | Disease Addison's | Disease, Addison | Disease;Addisons | Hypoadrenalism, Primary | Hypoadrenalisms, Primary | Hypocortisolism | Insufficiencies, Primary Adrenocortical | Insufficiency, Primary Adrenocortical | Primary Adrenal Insufficiency | Primary Adrenocortical Insufficiencies | Primary Adrenocortical Insufficiency | Primary Hypoadrenalism | Primary adrenal deficiency | Primary adrenal insufficiency | Primary adrenocortical failure | Primary adrenocortical insufficiency | Primary adrenocortical insufficiency (disorder) | Primary hypoadrenalism | addison disease | addison's disease | adrenal cortex; deficiency, primary | adrenal cortex; hypofunction, primary | adrenal; insufficiency, primary | corticoadrenal; deficiency, primary | deficiency; adrenocortical, primary | deficiency; corticoadrenal, primary | disease (or disorder); bronzed skin (Addison) (bronze disease) | hypoadrenocorticism; primary | insufficiency; adrenal, primary | insufficiency; suprarenal, primary | primary adrenal insufficiency | primary adrenal insufficiency (diagnosis) | primary; hypoadrenocorticism | suprarenal; insufficiency, primary | syndrome; Addison CSP2006:disease characterized by hypotension, weight loss, anorexia, weakness, and sometimes a bronze-like melanotic hyperpigmentation of the skin; due to tuberculosis or autoimmune induced disease (hypofunction) of the adrenal glands that results in deficiency of aldosterone and cortisol. | HPO2016_07_04:Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. [HPO:probinson] | MEDLINEPLUS_20151021:Your adrenal glands are just above your kidneys. The outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make enough of these hormones.
A problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, damaging your adrenal glands. Other causes include infections and cancer.
Symptoms include
Lab tests can confirm that you have Addison disease. If you don't treat it, it can be fatal. You will need to take hormone pills for the rest of your life. If you have Addison disease, you should carry an emergency ID. It should say that you have the disease, list your medicines and say how much you need in an emergency.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
| MSH2017_2016_08_12:An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES. | NCI2016_02D:A long-standing and persistent diminished production of adrenocortical hormones due to a disorder originating within the adrenal glands. HPO2016_07_04:HP:0008207|ICD10CM_2017:E27.1|MSH2017_2016_08_12:D000224|OMIM2016_04_17:240200|OMIM2016_04_17:300371|OMIM2016_04_17:MTHU006714|OMIM2016_04_17:MTHU008541|OMIM2016_04_17:MTHU012235|SNOMEDCT_US_2016_09_01:111562000|SNOMEDCT_US_2016_09_01:154707007|SNOMEDCT_US_2016_09_01:267483004|SNOMEDCT_US_2016_09_01:363732003|SNOMEDCT_US_2016_09_01:367376006|SNOMEDCT_US_2016_09_01:373662000|SNOMEDCT_US_2016_09_01:68588005 C4025822 Abnormality of the parathyroid gland Abnormality of the parathyroid gland HPO2016_07_04:An abnormality of the parathyroid gland. [HPO:curators] HPO2016_07_04:HP:0000828 C4225240 Deafness, autosomal dominant 68 DEAFNESS, AUTOSOMAL DOMINANT 68 | DFNA68 OMIM2016_04_17:616707 C0004135 Ataxia telangiectasia AT | AT, COMPLEMENTATION GROUP A | AT, COMPLEMENTATION GROUP C | AT, COMPLEMENTATION GROUP D | AT, COMPLEMENTATION GROUP E | AT1 | ATA | ATAXIA, TELANGIECTASIA | ATAXIA-TELANGIECTASIA | ATC | ATD | ATE | ATM | Ataxia Telangiectasia | Ataxia Telangiectasia Syndrome | Ataxia Telangiectasia [Disease/Finding] | Ataxia telangiectasia | Ataxia telangiectasia syndrome | Ataxia-Telangiectasia | Ataxia-telangiectasia | Ataxia-telangiectasia syndrome | Ataxia-telangiectasia syndrome (disorder) | LOUIS-BAR SYNDROME | Louis Bar Syndrome | Louis Bar syndrome | Louis-Bar | Louis-Bar Syndrome | Louis-Bar disease | Louis-Bar syndrome | Syndrome, Ataxia Telangiectasia | Syndrome, Louis-Bar | TELANGIECTASIA, CEREBELLO-OCULOCUTANEOUS | Telangiectasia, Cerebello-Oculocutaneous | ataxia telangiectasia | ataxia telangiectasia (ATM) | ataxia telangiectasia (Louis-Bar disease) | ataxia telangiectasia (diagnosis) | ataxia-telangiectasia | ataxia; telangiectasia | louis bar syndrome | louis-bar syndrome | telangiectasia; ataxia CSP2006:inherited disease characterized by onset in early childhood of progressive cerebellar ataxia, oculocutaneous telangiectasis, and severe sinopulmonary infections. | MEDLINEPLUS_20151021:Ataxia-telangiectasia (AT) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include
People with AT have an increased risk of developing diabetes and cancers, particularly lymphoma and leukemia. Although it affects the brain, people with AT usually have normal or above normal intelligence.
AT has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamin therapy.
NIH: National Institute of Neurological Disorders and Stroke
| MSH2017_2016_08_12:An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23). | NCI2016_02D:Rare hereditary disease characterized by extreme sensitivity to ionizing radiation or radiomimetic drugs because of a defect in DNA repair. AT heterozygosity is estimated to occur in more than 2% of the U.S. population; heterozygotes exhibit increased radiation sensitivity and are at increased risk for several types of cancer. The normal version of the gene that is defective in AT appears to activate the p53-dependent response to DNA damage. | NCI2016_NCI-GLOSS_1602D:A rare, inherited, progressive, degenerative disease of childhood that causes loss of muscle control, a weakened immune system, and an increased risk of cancer. MSH2017_2016_08_12:D001260|OMIM2016_04_17:208900|OMIM2016_04_17:607585|SNOMEDCT_US_2016_09_01:68504005 C1849366 Naris, slit-like Naris, slit-like | Slit-like nostrils | slit-like nostrils | slit-like nostrils (physical finding) HPO2016_07_04:HP:0009933 C4025170 Osteoporosis of vertebrae Osteoporosis of vertebrae HPO2016_07_04:Osteoporosis affecting predominantly the vertebrae. [HPO:curators] HPO2016_07_04:HP:0005625 C0003466 Anus, imperforate ANAL ATRESIA | ANAL IMPERFORATION | ANUS IMPERFORATE | ANUS, IMPERFORATE | Anal Atresia | Anal Atresias | Anal atresia | Anal atresia (disorder) | Anus imperforate | Anus, Imperforate | Anus, Imperforate [Disease/Finding] | Aproctia | Atresia ani | Atresia of anus | Atresia, Anal | Atresia;anal | Atresias, Anal | Congenital anal atresia | Congenital atresia of anus | Congenital atresia of anus (disorder) | Congenital atresia of anus (disorder) [Ambiguous] | Congenital imperforate anus | Congenital or infantile occlusion of anus | IMPERFORATE ANUS | Imperforate Anus | Imperforate anus | Imperforate anus (disorder) | Imperforate anus NOS | Imperforate anus NOS (disorder) | anal atresia | anus atresia | anus imperforate | anus imperforated | anus; atresia | anus; imperforate | atresia ani | atresia; anus | imperforate anu | imperforate anus | imperforate anus (diagnosis) | imperforate anus (physical finding) | imperforate; anus | the anus was imperforate HPO2016_07_04:Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. [HPO:probinson] | MSH2017_2016_08_12:A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME. | NCI2016_02D:A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities. | NCI2016_CDISC_1602D:Absence or closure of the anal opening. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) HPO2016_07_04:HP:0002023|ICD10CM_2017:Q42.3|MSH2017_2016_08_12:D001006|OMIM2016_04_17:207500|OMIM2016_04_17:301800|OMIM2016_04_17:MTHU001447|OMIM2016_04_17:MTHU005779|SNOMEDCT_US_2016_09_01:14118000|SNOMEDCT_US_2016_09_01:156956004|SNOMEDCT_US_2016_09_01:204712000|SNOMEDCT_US_2016_09_01:204731006|SNOMEDCT_US_2016_09_01:204733009 C1850447 Rectilinear' profiles ultrastructurally Rectilinear' profiles ultrastructurally | Rectilinear intracellular accumulation of autofluorescent lipopigment storage material | Rectilinear profiles ultrastructurally HPO2016_07_04:An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern. [HPO:probinson] HPO2016_07_04:HP:0003226|OMIM2016_04_17:MTHU010615 C1846389 Cortical dysplasia of taylor with balloon cells CDTBC | CORTICAL DYSPLASIA OF TAYLOR WITH BALLOON CELLS | Cortical Dysplasia of Taylor with Balloon Cells | FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIB | Focal Cortical Dysplasia of Taylor, Type IIb MSH2017_2016_08_12:C537067|OMIM2016_04_17:607341 C1839792 Mental retardation, x-linked, syndromic 12 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12 | MRXS12 | Mental Retardation, X-Linked, Syndromic 12 MSH2017_2016_08_12:C564106|OMIM2016_04_17:309545 C4022845 Decreased t3/t4 ratio Decreased T3/T4 ratio HPO2016_07_04:A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal. [HPO:probinson] HPO2016_07_04:HP:0012560 C0393673 Benign atypical partial epilepsy in childhood Benign atypical partial epilepsy in childhood | Benign atypical partial epilepsy in childhood (disorder) SNOMEDCT_US_2016_09_01:230384001 C4083212 Alopecia, male pattern Alopecia, Male Pattern | Androgenetic alopecia | Androgenic alopecia | BALDNESS, MALE PATTERN | Baldness, Male Pattern | Common baldness | Hereditary alopecia | MPB | Male Pattern Alopecia | Male Pattern Baldness | Male pattern alopecia | Male pattern alopecia (disorder) | Male pattern baldness | Pattern baldness | alopecia androgenetic | alopecia androgenic | androgenetic alopecia | androgenic alopecia | baldness male pattern | baldness; male-pattern | male pattern alopecia | male pattern baldness | male pattern baldness (physical finding) | pattern baldness HPO2016_07_04:HP:0002292|MSH2017_2016_08_12:D000505|OMIM2016_04_17:109200|SNOMEDCT_US_2016_09_01:87872006 C0151785 Disease of mucous membrane DISEASES OF THE MUCOUS MEMBRANES | Disease of mucosa | Disease of mucosa, NOS | Disease of mucous membrane | Disease of mucous membrane (disorder) | Disease of mucous membrane, NOS | Disorder of mucous membrane | Disorder of mucous membrane (disorder) | MEMBRANE MUCOUS DISORDER (NOS) | MUCOUS MEMBRANE | MUCOUS MEMBRANE DISORDER | MUCOUS MEMBRANE DISORDER (NOS) | Membrane mucous disorder (NOS) | Mucosal disease | Mucosal disease, NOS | Mucous membrane disorder | Mucous membrane disorder (NOS) | Mucous membrane disorder NOS | Mucous membrane disorder, NOS | diseases mucosal | disorders membrane mucous | membrane mucous | mucosa disease | mucosal disease SNOMEDCT_US_2016_09_01:95351003 C0340319 Myocardial infarction posterior MYOCARDIAL INFARCTION POSTERIOR | Posterior myocard.infarct NOS | Posterior myocardial infarction | Posterior myocardial infarction NOS | Posterior myocardial infarction NOS (disorder) | infarction myocardial posterior | posterior myocardial infarction SNOMEDCT_US_2016_09_01:194800006 C1848954 Generalized dystonia Generalised dystonia | Generalized dystonia | Generalized dystonia (disorder) HPO2016_07_04:A type of dystonia that affects all or most of the body. [HPO:probinson] HPO2016_07_04:HP:0007325|OMIM2016_04_17:MTHU009196|SNOMEDCT_US_2016_09_01:425492002 C3662006 Paralytic syndrome of one limb Paralytic syndrome of one limb | Paralytic syndrome of one limb (disorder) SNOMEDCT_US_2016_09_01:609609004 C0085397 Pasteurellaceae infections Infection, Pasteurellaceae | Infections, Pasteurellaceae | Pasteurellaceae Infection | Pasteurellaceae Infections | Pasteurellaceae Infections [Disease/Finding] MSH2017_2016_08_12:Infections with bacteria of the family PASTEURELLACEAE. MSH2017_2016_08_12:D016871 C0036920 Sezary syndrome CTCL / Sezary syndrome | Cutaneous T-cell lymphoma/Sezary syndrome | Erythroderma, Sezary | Lymphoma, Sezary's | RETICULOSIS SYNDROME, SEZARY | SEZARY SYNDROME | Sezary Erythroderma | Sezary Lymphoma | Sezary Syndrome | Sezary Syndrome [Disease/Finding] | Sezary syndrome | Sezary syndrome (diagnosis) | Sezary's Disease | Sezary's Lymphoma | Sezary's disease | Sezary's disease (morphologic abnormality) | Sezary's disease NOS | Sezary's disease NOS (disorder) | Sezary's disease of unspecified site | Sezary's disease of unspecified site (disorder) | Sezary's disease-unspec. site | Sezary's syndrome | Sezarys Lymphoma | Syndrome, Sezary | S茅zary | S茅zary Syndrome | S茅zary disease | S茅zary disease, unspecified site | S茅zary's disease | S茅zary's disease (clinical) | S茅zary's disease (disorder) | S茅zary's disease (morphologic abnormality) | S茅zary's disease NOS | S茅zary's disease NOS (disorder) | S茅zary's disease of unspecified site | S茅zary's disease of unspecified site (disorder) | S茅zary's syndrome | S茅zary; reticulosis | [M]Sezary's disease | [M]S茅zary's disease | reticulosis; S茅zary | sezary syndrome | sezary's disease | sezary's syndrome MSH2017_2016_08_12:A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells). | NCI2016_02D:A generalized peripheral (mature) T-cell neoplasm characterized by the presence of erythroderma, lymphadenopathy, and neoplastic, cerebriform T-lymphocytes in the blood. Sezary syndrome is an aggressive disease. (WHO, 2001) | NCI2016_NCI-GLOSS_1602D:A form of cutaneous T-cell lymphoma, a cancerous disease that affects the skin. ICD10CM_2017:C84.1|ICD10CM_2017:C84.10|ICD9CM_2014:202.2|MSH2017_2016_08_12:D012751|SNOMEDCT_US_2016_09_01:118611004|SNOMEDCT_US_2016_09_01:188629004|SNOMEDCT_US_2016_09_01:188638002|SNOMEDCT_US_2016_09_01:4950009 C1956147 Microlissencephaly Microlissencephalies | Microlissencephaly MSH2017_2016_08_12:D008831|OMIM2016_04_17:MTHU048108 C1839830 Hirsute forehead Frontal hirsutism | Hairy forehead | Hirsute forehead HPO2016_07_04:Excessive amount of hair growth on forehead. [DDD:jclayton-smith] HPO2016_07_04:HP:0011335|OMIM2016_04_17:MTHU007335|OMIM2016_04_17:MTHU037977 C0036992 Short bowel syndrome Acquired short bowel syndrome | Acquired short bowel syndrome (disorder) | BOWEL SHORT BOWEL SYNDROME | Bowel Syndrome, Short | Bowel Syndromes, Short | MASSIVE BOWEL RESECTION SYNDROME | Post-resection malabsorption | Postresectional malabsorption syndrome | SBS - Short bowel syndrome | SGS - Short gut syndrome | SHORT GUT SYNDROME | SHORT-BOWEL SYNDROME | Short Bowel Syndrome | Short Bowel Syndrome [Disease/Finding] | Short Bowel Syndromes | Short bowel syndrome | Short bowel syndrome (disorder) | Short gut syndrome | Short intestine syndrome | Short-bowel syndrome | Short-gut syndrome | Syndrome, Short Bowel | Syndromes, Short Bowel | bowel short syndrome | short bowel syndrome | short bowel syndrome (diagnosis) | short bowel syndromes | short gut syndrome | short-bowel syndrome | syndrome intestine short CSP2006:malabsorption syndrome resulting from extensive operative resection of the small intestine, the absorptive region of the gastrointestinal tract. | MSH2017_2016_08_12:A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT. | NCI2016_02D:Malabsorption that results from the removal of a large segment of the small intestine or, less frequently, from the complete dysfunction of a large portion of the small intestine. Signs and symptoms include diarrhea, steatorrhea, and weigh loss. | NCI2016_NICHD_1602D:Malabsorption that results from the removal of a large segment of the small intestine or, less frequently, from the complete dysfunction of a large portion of the small intestine. Signs and symptoms include diarrhea, steatorrhea, and weigh loss. MSH2017_2016_08_12:D012778|OMIM2016_04_17:MTHU014402|SNOMEDCT_US_2016_09_01:204768009|SNOMEDCT_US_2016_09_01:235724004|SNOMEDCT_US_2016_09_01:26629001 C0338585 Carotid artery dissection Carotid Artery Dissection | Carotid artery dissection | Carotid artery dissection (disorder) | Dissection of carotid artery | carotid artery dissection | dissection carotid artery | dissection of carotid artery | dissection of carotid artery (diagnosis) HPO2016_07_04:A separation (dissection) of the layers of the carotid artery wall. [HPO:probinson] | NCI2016_02D:Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke. HPO2016_07_04:HP:0012158|ICD10CM_2017:I77.71|ICD9CM_2014:443.21|SNOMEDCT_US_2016_09_01:230729006 C0009186 Coccidioidomycosis COCCIDIOIDOMYCOSIS | Coccidioides immitis Infection | Coccidioides immitis Infections | Coccidioides immitis infection | Coccidioidomycoses | Coccidioidomycosis | Coccidioidomycosis (disorder) | Coccidioidomycosis NOS | Coccidioidomycosis NOS (disorder) | Coccidioidomycosis [Disease/Finding] | Coccidioidomycosis infection | Coccidioidomycosis, NOS | Coccidioidomycosis, unspecified | Coccidioidomycosis,unspecfd | DESERT FEVER | FEVER, DESERT | FEVER, SAN JOAQUIN | FEVER, VALLEY | Infection by Coccidioides immitis | Infection by Coccidioides immitis (disorder) | Infection caused by Coccidioides immitis | Infection caused by Coccidioides immitis (disorder) | Infection, Coccidioides immitis | Infections, Coccidioides immitis | POSADAS-WERNICKE DISEASE | Posada-Wernicke | Posadas-Wernicke disease | San Joaquin (Valley); fever (etiology) | San Joaquin (Valley); fever (manifestation) | San Joaquin Valley Fever | San Joaquin Valley fever | San Joaquin valley fever | Valley Fever | Valley Fevers | Valley fever | Wernicke-Posada | [X]Coccidioidomycosis, unspecified | [X]Coccidioidomycosis, unspecified (disorder) | [X]Coccidioidomycosis,unspecfd | coccidioidomycosis | coccidioidomycosis (diagnosis) | desert fever | disease posada wernicke | fever; San Joaquin (Valley) (etiology) | fever; San Joaquin (Valley) (manifestation) CSP2006:infection with a fungus of the genus Coccidioides, species C. immitis; primary form is an acute, benign, self limited respiratory infection due to inhalation of spores and varying in severity; secondary form is a virulent, severe, chronic, progressive granulomatous disease with systemic involvement. | MEDLINEPLUS_20151021:Valley Fever is a disease caused by a fungus (or mold) called Coccidioides. The fungi live in the soil of dry areas like the southwestern U.S. You get it from inhaling the spores of the fungus. The infection cannot spread from person to person.
Anyone can get Valley Fever. But it's most common among older adults, especially those 60 and older. People who have recently moved to an area where it occurs are at highest risk for infection. Other people at higher risk include
Valley Fever is often mild, with no symptoms. If you have symptoms, they may include a flu-like illness, with fever, cough, headache, rash, and muscle aches. Most people get better within several weeks or months. A small number of people may develop a chronic lung or widespread infection.
Valley Fever is diagnosed by testing your blood, other body fluids, or tissues. Many people with the acute infection get better without treatment. In some cases, doctors may prescribe antifungal drugs for acute infections. Severe infections require antifungal drugs.
Centers for Disease Control and Prevention
| MSH2017_2016_08_12:Infection with a fungus of the genus COCCIDIOIDES, endemic to the SOUTHWESTERN UNITED STATES. It is sometimes called valley fever but should not be confused with RIFT VALLEY FEVER. Infection is caused by inhalation of airborne, fungal particles known as arthroconidia, a form of FUNGAL SPORES. A primary form is an acute, benign, self-limited respiratory infection. A secondary form is a virulent, severe, chronic, progressive granulomatous disease with systemic involvement. It can be detected by use of COCCIDIOIDIN. | NCI2016_02D:A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease. ICD10CM_2017:B38|ICD10CM_2017:B38.9|ICD9CM_2014:114|ICD9CM_2014:114.9|MSH2017_2016_08_12:D003047|SNOMEDCT_US_2016_09_01:154408001|SNOMEDCT_US_2016_09_01:187025009|SNOMEDCT_US_2016_09_01:187035003|SNOMEDCT_US_2016_09_01:187481007|SNOMEDCT_US_2016_09_01:266218008|SNOMEDCT_US_2016_09_01:442543009|SNOMEDCT_US_2016_09_01:60826002 C3839296 Phakomatosis cesiomarmorata Phakomatosis caesiomarmorata | Phakomatosis caesiomarmorata (disorder) | Phakomatosis cesiomarmorata SNOMEDCT_US_2016_09_01:703286006 C1836861 Fanconi anemia, complementation group i FANCI | FANCONI ANEMIA, COMPLEMENTATION GROUP I | Fanconi Anemia, Complementation Group I | fanconi anemia complementation group i | fanconi anemia complementation group i (diagnosis) MSH2017_2016_08_12:C563802|OMIM2016_04_17:609053|OMIM2016_04_17:611360 C1838527 Long qt syndrome 3, acquired, susceptibility to LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO | LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO (finding) OMIM2016_04_17:600163|OMIM2016_04_17:603830 C1855205 Susceptibility to chickenpox Susceptibility to chickenpox HPO2016_07_04:HP:0005360|OMIM2016_04_17:MTHU011569 C4020738 Respiratory complex iii deficiency Respiratory complex III deficiency HPO2016_07_04:HP:0011924 C4023071 Hypergalactosemia Hypergalactosemia HPO2016_07_04:Elevated concentration of galactose in the blood. [HPO:probinson] HPO2016_07_04:HP:0012024 C0010078 Coronaviridae infections Coronaviridae Infection | Coronaviridae Infections | Coronaviridae Infections [Disease/Finding] | DISEASES DUE TO CORONAVIRIDAE | Disease caused by Coronaviridae | Disease caused by Coronaviridae (disorder) | Disease due to Coronaviridae | Disease due to Coronaviridae (disorder) | Disease due to coronaviridae, NOS | Infection, Coronaviridae | Infections, Coronaviridae MSH2017_2016_08_12:Virus diseases caused by CORONAVIRIDAE. | MSHFRE2016:Maladies virales dues aux Coronaviridae. MSH2017_2016_08_12:D003333|SNOMEDCT_US_2016_09_01:27619001 C1856184 Hemihyperplasia, isolated HEMIHYPERPLASIA | HEMIHYPERPLASIA, ISOLATED | HEMIHYPERTROPHY, ISOLATED | HHP | Hemi 3 Syndrome | Hemihyperplasia | Hemihyperplasia, Isolated | Hemihypertrophy, Isolated | IH MSH2017_2016_08_12:C565524|OMIM2016_04_17:235000|OMIM2016_04_17:MTHU025401 C2677500 Oculoauricular syndrome MICROPHTHALMIA, MICROCORNEA, ANTERIOR SEGMENT DYSGENESIS, CATARACT, OCULAR COLOBOMA, RETINAL PIGMENT EPITHELIUM ABNORMALITIES, ROD-CONE DYSTROPHY, AND ANOMALIES OF THE EXTERNAL EAR | OCACS | OCULOAURICULAR SYNDROME | Oculoauricular Syndrome | SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME MSH2017_2016_08_12:C567416|OMIM2016_04_17:142992|OMIM2016_04_17:612109 C0006433 Burnout, professional Burnout, Professional | Burnout, Professional [Disease/Finding] | Professional Burnout MSH2017_2016_08_12:An excessive stress reaction to one's occupational or professional environment. It is manifested by feelings of emotional and physical exhaustion coupled with a sense of frustration and failure. MSH2017_2016_08_12:D002055 C4014939 Hennekam lymphangiectasia-lymphedema syndrome 2 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 | HKLLS2 OMIM2016_04_17:612411|OMIM2016_04_17:616006 C0158713 Bilateral congenital dislocation of hip Bilat.congen.dislocation hip | Bilateral congenital dislocation of hip | Bilateral congenital dislocation of hip (disorder) | Congenital bilateral hip dislocation | Congenital dislocation of hip, bilateral | congenital bilateral dislocation of hip | congenital bilateral dislocation of hip (diagnosis) | dislocation; hip, congenital, bilateral HPO2016_07_04:HP:0008780|ICD10CM_2017:Q65.1|ICD9CM_2014:754.31|OMIM2016_04_17:MTHU018403|SNOMEDCT_US_2016_09_01:10155006|SNOMEDCT_US_2016_09_01:205049009 C0745883 Lower extremity polio LOWER EXTREMITY POLIO C4039776 Migraine caused by estrogen contraceptive Migraine caused by estrogen contraceptive | Migraine caused by estrogen contraceptive (disorder) | Migraine caused by oestrogen contraceptive | Migraine due to estrogen contraceptive | Migraine due to estrogen contraceptive (disorder) | Migraine due to oestrogen contraceptive SNOMEDCT_US_2016_09_01:Migraine is due to low estrogen level during the contraceptive pill-free interval. | SNOMEDCT_US_2016_09_01:Migraine is due to low oestrogen level during the contraceptive pill-free interval. SNOMEDCT_US_2016_09_01:711545001 C1519485 Squamous cell breast carcinoma, acantholytic variant Squamous Cell Breast Carcinoma, Acantholytic Variant NCI2016_02D:A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern. C4021654 Precocious atherosclerosis Precocious atherosclerosis | Premature atherosclerosis HPO2016_07_04:HP:0004416 C0271092 Progressive cone dystrophy (without rod involvement) Progressive cone (-rod) dystr. | Progressive cone dystrophy (without rod involvement) | Progressive cone dystrophy (without rod involvement) (disorder) SNOMEDCT_US_2016_09_01:193404003|SNOMEDCT_US_2016_09_01:267613004 C0432185 Aplasia of muscle Absent muscle | Absent muscles since birth | Amyoplasia | Aplasia of muscle | Aplasia of muscle (disorder) | Congenital absence of muscle | Congenital absence of muscles | Congenital muscle absence | Orbinsky syndrome | absent muscle | muscle absence congenital | muscle; absent HPO2016_07_04:Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue. [HPO:probinson, Neuromics:vstraub] HPO2016_07_04:HP:0003634|SNOMEDCT_US_2016_09_01:205525001|SNOMEDCT_US_2016_09_01:205532005|SNOMEDCT_US_2016_09_01:298271009 C4032249 Amphetamine induced headache without intractable headache amphetamine induced headache without intractable headache | amphetamine induced headache without intractable headache (diagnosis) | vasoconstrictor induced headache - amphetamine, without intractable headache C0271007 Phthisis bulbi Atrophia bulbi | Atrophy of eye | Atrophy of globe | Atrophy of globe, unspecified eye | Eyeball atrophic | Globe of eye shrunken | Globe of eye shrunken (disorder) | Globe of eye shrunken (finding) | PHTHISIS BULBI | Phthisical eye | Phthisis bulbi | Phthisis bulbi (disorder) | Phthysical eye | Phthysis bulbi | Shrunken eyeball | atrophy of globe | atrophy of globe (diagnosis) | atrophy; eyeball | blind hypotensive eye | bulbi; phthisis | eyeball; atrophy | eyeball; phthisis | phthisis bulbi | phthisis bulbi (diagnosis) | phthisis; bulbi | phthisis; eyeball HPO2016_07_04:Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. [HPO:probinson] HPO2016_07_04:HP:0000667|ICD10CM_2017:H44.52|ICD10CM_2017:H44.529|OMIM2016_04_17:MTHU037383|SNOMEDCT_US_2016_09_01:111510002|SNOMEDCT_US_2016_09_01:246922000|SNOMEDCT_US_2016_09_01:4229009 C3839866 Familial cerebral saccular aneurysm Familial cerebral saccular aneurysm | Familial cerebral saccular aneurysm (disorder) SNOMEDCT_US_2016_09_01:703226008 C0085281 Addictive behavior ADDICTION | Addiction | Addiction (finding) | Addiction -RETIRED- | Addiction, NOS | Addictive Behavior | Addictive Behaviors | Addictive behavior | BEHAVIOR ADDICTIVE | Behavior, Addictive | Behaviors, Addictive | DEPENDENCE ADDICTIVE | Dependence addictive | addiction | addictions | addictive behavior | addictive behaviors HPO2016_07_04:A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains. [HPO:probinson, PMID:20560821] | MSH2017_2016_08_12:The observable, measurable, and often pathological activity of an organism that portrays its inability to overcome a habit resulting in an insatiable craving for a substance or for performing certain acts. The addictive behavior includes the emotional and physical overdependence on the object of habit in increasing amount or frequency. | NCI2016_NCI-GLOSS_1602D:Uncontrollable craving, seeking, and use of a substance such as a drug or alcohol. HPO2016_07_04:HP:0030858|MSH2017_2016_08_12:D016739|SNOMEDCT_US_2016_09_01:123088001|SNOMEDCT_US_2016_09_01:32709003 C3715164 Leber congenital amaurosis 17 LCA17 | LEBER CONGENITAL AMAUROSIS 17 OMIM2016_04_17:601147|OMIM2016_04_17:615360 C0476489 Alpha 1 foetoprotein abnormal Abnorm of alpha-fetoprotein | Abnormalit of alphafetoprotein | Abnormality of alpha-fetoprotein | Abnormality of alpha-fetoprotein (finding) | Abnormality of alphafetoprotein | Alpha 1 fetoprotein abnormal | Alpha 1 foetoprotein abnormal | Alpha 1 foetoprotein abnormal NOS | Alpha fetoprotein abnormal | Alphafetoprotein abnormal NOS | Alphafoetoprotein abnormal NOS | [D]Abnorm of alpha-fetoprotein | [D]Abnormality of alpha-fetoprotein | [D]Abnormality of alpha-fetoprotein (context-dependent category) | [D]Abnormality of alpha-fetoprotein (situation) | abnormal; alphafetoprotein | abnormality of alphafetoprotein (lab test) | alphafetoprotein; abnormal HPO2016_07_04:HP:0006254|ICD10CM_2017:R77.2|SNOMEDCT_US_2016_09_01:207292006|SNOMEDCT_US_2016_09_01:274887001 C2752027 Glycogen storage disease xiii ENOLASE 3 DEFICIENCY | ENOLASE-BETA DEFICIENCY | Enolase 3 Deficiency | Enolase-Beta Deficiency | GLYCOGEN STORAGE DISEASE XIII | GSD XIII | GSD13 | Glycogen Storage Disease XIII MSH2017_2016_08_12:C567861|OMIM2016_04_17:612932 C1112601 Hypertonic dehydration Hyperosmolar dehydration | Hypertonic dehydration | dehydration hypertonic | hypertonic dehydration HPO2016_07_04:HP:0001986|OMIM2016_04_17:MTHU003818|OMIM2016_04_17:MTHU007811 C0151763 Liver damage DAMAGE LIVER | Damage liver | HEPATIC DAMAGE | HEPATIC DAMAGE (NOS) | HEPATOCELLULAR DAMAGE | Hepatic cytolysis | Hepatic damage | Hepatic damage (NOS) | Hepatocellular Damage | Hepatocellular Injury | Hepatocellular Liver Injury | Hepatocellular damage | Hepatocellular damage NOS | Hepatocellular damage, NOS | Hepatocellular injury | LIVER CELL DAMAGE | LIVER DAMAGE | Liver cell damage | Liver damage | Liver damage (disorder) | Liver damage, NOS | damage hepatocellular | damage liver | damage; liver | hepatic cytolysis | hepatic damage | hepatocellular damage | hepatocellular injury | liver cell damage | liver damage | liver; damage NCI2016_02D:Disruption of hepatocyte function due to liver injury. | NCI2016_NICHD_1602D:Perturbation of hepatocyte function due to liver injury. SNOMEDCT_US_2016_09_01:243978007|SNOMEDCT_US_2016_09_01:62857009 C1849089 Broad forehead Bitemporal widening | Broad forehead | Increased bitemporal dimension | Increased bitemporal width | Increased width of the forehead | Intertemporal widening | Wide forehead HPO2016_07_04:Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. [pmid:19125436] HPO2016_07_04:HP:0000337|OMIM2016_04_17:MTHU009346|OMIM2016_04_17:MTHU011786 C2675369 Chromosome 22q11.2 microduplication syndrome 22q11.2 Duplication | 22q11.2 duplication | 22q11.2 duplication (disorder) | CHROMOSOME 22q11.2 DUPLICATION SYNDROME | CHROMOSOME 22q11.2 MICRODUPLICATION SYNDROME | Chromosome 22q11.2 Duplication Syndrome | Chromosome 22q11.2 Microduplication Syndrome | Chromosome 22q11.2 duplication syndrome | Chromosome 22q11.2 microduplication syndrome MSH2017_2016_08_12:C567224|OMIM2016_04_17:608363|SNOMEDCT_US_2016_09_01:699311001 C4273658 Graham little piccardi lassueur syndrome Graham Little Piccardi Lassueur syndrome | Graham Little Piccardi Lassueur syndrome (disorder) | Graham Little syndrome | Piccardi Lassueur Little syndrome SNOMEDCT_US_2016_09_01:A variant of lichen planopilaris characterised by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. It is a very rare disease but the exact prevalence is not known. It mainly affects women during adulthood (30-60 years of age). Scarring alopecia presents as small confluent patches that are atrophic and cicatricial in the centre but erythematous and squamous around the edges. Follicular keratosis presents as pruritic, red-brown, follicular spiny papules on the trunk and extremities. Generally, the three clinical features appear simultaneously but in some cases, scalp alopecia precedes the follicular keratosis. Aetiology is unknown. | SNOMEDCT_US_2016_09_01:A variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. It is a very rare disease but the exact prevalence is not known. It mainly affects women during adulthood (30-60 years of age). Scarring alopecia presents as small confluent patches that are atrophic and cicatricial in the center but erythematous and squamous around the edges. Follicular keratosis presents as pruritic, red-brown, follicular spiny papules on the trunk and extremities. Generally, the three clinical features appear simultaneously but in some cases, scalp alopecia precedes the follicular keratosis. Etiology is unknown. SNOMEDCT_US_2016_09_01:718215008 C0796000 Multiple non-ossifying fibromatosis Jaffe Campanacci syndrome | Jaffe-Campanacci syndrome | Multiple non-ossifying fibromatosis | Multiple non-ossifying fibromatosis (disorder) | jaffe campanacci syndrome | jaffe-campanacci syndrome JABL99:A syndrome of unknown etiology with variable expression characterized mainly by non-ossifying fibromata, extraskeletal congenital anomalies such as cafe-au-lait spots, mental retardation, hypogonadism or cryptorchidism, and ocular and cardiovascular malformations. SNOMEDCT_US_2016_09_01:715432009 C1865598 Thick alveolar ridges Alveolar ridge excess | Alveolar ridge overgrowth | Enlarged alveolar ridge | Hyperplasia of alveolar process of jaw | Hyperplasia of alveolar ridge | Increased size of alveolar ridge | Increased size of gum ridge | Overgrowth of alveolar ridge | Overgrowth of gum ridge | Thick alveolar ridges | Thickened alveolar ridges HPO2016_07_04:Increased width of the alveolar ridges. [pmid:19125428] HPO2016_07_04:HP:0009085|OMIM2016_04_17:MTHU005520|OMIM2016_04_17:MTHU010259 C1510489 Cerebral amyloid angiopathy, hereditary Autosomal dominant cerebrovascular amyloidosis | CEREBRAL HEMORRHAGE, HEREDITARY, WITH AMYLOIDOSIS | Cerebral Amyloid Angiopathy, Hereditary | Cerebral Hemorrhage, Hereditary, With Amyloidosis | HCHWA | HCHWA - Hereditary cerebral haemorrhage with amyloidosis | HCHWA - Hereditary cerebral hemorrhage with amyloidosis | HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS | Hereditary Cerebral Amyloid Angiopathy | Hereditary Cerebral Hemorrhage With Amyloidosis | Hereditary central nervous system amyloid angiopathy | Hereditary cerebral angiopathic amyloidosis | Hereditary cerebral haemorrhage with amyloidosis | Hereditary cerebral hemorrhage with amyloidosis MSH2017_2016_08_12:D028243|OMIM2016_04_17:105150|SNOMEDCT_US_2016_09_01:45639009 C0026697 Mucolipidoses Mucolipidoses | Mucolipidoses [Disease/Finding] | Mucolipidosis | Mucolipidosis (disorder) | Mucolipidosis, NOS | Sialidoses | Sialidosis | mucolipidoses | mucolipidosis | mucolipidosis (diagnosis) MSH2017_2016_08_12:A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) | NCI2016_02D:A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. MSH2017_2016_08_12:D009081|SNOMEDCT_US_2016_09_01:70528007 C0796271 Brittle hair-mental deficit syndrome BRITTLE HAIR AND MENTAL DEFICIT | Brittle hair and mental deficit | SABINAS BRITTLE HAIR SYNDROME | Sabinas brittle hair syndrome | Sabinas syndrome | brittle hair-mental deficit syndrome JABL99:Brittle hair, mild mental deficiency, and nail dysplasia. The syndrome was first observed in Sabinas, a small community in northern Mexico. MSH2017_2016_08_12:C536320|OMIM2016_04_17:211390 C2931277 Pena shokeir syndrome type 2 Pena Shokeir syndrome Type 2 | Pena-Shokeir syndrome type 2 MSH2017_2016_08_12:C536646 C0033949 Male orgasmic disorder Inhibited male orgasm | Inhibited male orgasm (disorder) | Male Orgasmic Disorder | Male orgasmic disorder | Psychogenic inhibited male orgasm | Psychogenic inhibited male orgasm (finding) | Psychosexual dysfunction with inhibited male orgasm | inhibited male orgasm | inhibited male orgasmic disorder | inhibited male orgasmic disorder (diagnosis) | male orgasmic disorder | male orgasmic disorder (diagnosis) | male orgasmic disorder inhibited NCI2016_02D:Persistent delay or absence in orgasm not accounted for by a medical reason. ICD10CM_2017:F52.32|SNOMEDCT_US_2016_09_01:153261000119109|SNOMEDCT_US_2016_09_01:191795002|SNOMEDCT_US_2016_09_01:81903006 C1833578 Craniosynostosis, adelaide type CRANIOSYNOSTOSIS, ADELAIDE TYPE | CRSA | Craniosynostosis, Adelaide Type MSH2017_2016_08_12:C563471|OMIM2016_04_17:600593 C3502107 Breastfeeding jaundice Breastfeeding Jaundice NCI2016_02D:Yellow coloring of skin, mucous membranes and eyes in an otherwise healthy breast-fed newborn due to insufficient intake of maternally-expressed milk. It commonly appears four to seven days after birth. | NCI2016_NICHD_1602D:Yellow coloring of skin, mucous membranes and eyes in an otherwise healthy breast-fed newborn due to insufficient intake of maternally-expressed milk. It commonly appears four to seven days after birth. MSH2017_2016_08_12:C565501 C1841854 Gms syndrome GMS SYNDROME | GMS Syndrome | GMS syndrome | GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME | Goniodysgenesis with intellectual disability and short stature syndrome | Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Goniodysgenesis with mental deficiency and short stature | Goniodysgenesis-Mental Retardation-Short Stature Syndrome SNOMEDCT_US_2016_09_01:An extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. MSH2017_2016_08_12:C564214|OMIM2016_04_17:138770|SNOMEDCT_US_2016_09_01:716024001 C1860825 Accelerated bone age after puberty Accelerated bone age after puberty HPO2016_07_04:HP:0002805|OMIM2016_04_17:MTHU015194 C1335010 Non-neoplastic eyelid disorder Non-Neoplastic Eyelid Disorder C0857190 Arm leg rash Rash on legs & arms | arm leg rash | arms legs rash | rash arm leg | rash legs arms | rash on arms legs | rash on legs & arms | rash on legs arms C1864887 Cortical dysplasia-focal epilepsy syndrome CDFE SYNDROME | CDFES | CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME | Cortical Dysplasia-Focal Epilepsy Syndrome MSH2017_2016_08_12:C566482|OMIM2016_04_17:604569|OMIM2016_04_17:610042 C0022698 Kinesics Kinesics MSH2017_2016_08_12:Systematic study of the body and the use of its static and dynamic position as a means of communication. | MSHNOR2016:Systematisk studium av kroppen og anvendelsen av statiske og dynamiske posisjoner som midler i kommunikasjon. MSH2017_2016_08_12:D007697 C0409676 Juvenile spondyloarthropathy JSpA | Juvenile Spondyloarthritis | Juvenile Spondyloarthropathy | Juvenile spondyloarthritis | Juvenile spondyloarthropathy | Juvenile spondyloarthropathy (disorder) | juvenile spondyloarthropathies | juvenile spondyloarthropathy NCI2016_02D:A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood. | NCI2016_NICHD_1602D:Onset of spondyloarthritis before 18 years of age, and less commonly associated with axial disease. Encompasses the juvenile idiopathic arthritis categories of enthesitis-related arthritis and psoriatic arthritis, and includes many cases of undifferentiated arthritis. SNOMEDCT_US_2016_09_01:239806000 C3806255 Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND MENTAL RETARDATION OMIM2016_04_17:219721 C0949595 Gonadal dysgenesis, 46,xx 46,XX Gonadal Dysgenesis | 46,XX Ovarian Dysgenesis | GONADAL DYSGENESIS, XX TYPE | Gonadal Dysgenesis, 46, XX | Gonadal Dysgenesis, 46,XX | Gonadal Dysgenesis, 46,XX [Disease/Finding] | Gonadal Dysgenesis, XX Type | ODG1 | OVARIAN DYSGENESIS 1 | OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE | OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE | OVARIAN FAILURE, HYPERGONADOTROPIC | XX GONADAL DYSGENESIS | XXGD MSH2017_2016_08_12:The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration. | NCI2016_02D:Gonadal dysgenesis in an individual with 46,XX karyotype and female phenotype. MSH2017_2016_08_12:D023961|OMIM2016_04_17:136435|OMIM2016_04_17:233300 C1852282 Deafness, autosomal dominant 1 (disorder) DEAFNESS, AUTOSOMAL DOMINANT 1 | DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) | DEAFNESS, PROGRESSIVE LOW TONE | DFNA1 | Deafness, Autosomal Dominant 1 | Deafness, Progressive Low Tone | HEREDITARY LOW FREQUENCY HEARING LOSS | Hereditary Low Frequency Hearing Loss | KONIGSMARK SYNDROME | Konigsmark Syndrome | LFHL1 MSH2017_2016_08_12:C565121|OMIM2016_04_17:124900|OMIM2016_04_17:602121 C0413928 Nifedipine adverse reaction Adverse reaction to nifedipine | Adverse reaction to nifedipine (finding) | NIFEDIPINE ADVERSE REACTION | Nifedipine adverse reaction | Nifedipine adverse reaction (disorder) | adverse effect of drug therapy nifedipine | adverse effect of nifedipine | adverse effect of nifedipine (diagnosis) | adverse reaction to nifedipine SNOMEDCT_US_2016_09_01:218880007|SNOMEDCT_US_2016_09_01:292454003 C0347472 Benign neo soft tiss-lu spine Benign neo soft tiss-lu spine | Benign neoplasm soft tissues of lumbar spine | Benign neoplasm soft tissues of lumbar spine (disorder) SNOMEDCT_US_2016_09_01:189042009 C4025053 Broad long bone diaphyses Broad long bone diaphyses | Broad shaft of long bone | Wide shaft of long bone HPO2016_07_04:Increased width of the diaphysis of long bones. [HPO:probinson] HPO2016_07_04:HP:0006371 C0019194 Animal viral hepatitis Hepatitis, Viral, Animal | Hepatitis, Viral, Animal [Disease/Finding] | animal viral hepatitis CSP2006:not restricted to hepatitis caused by hepatitis viruses; use also for hepatitis caused by other viruses in animals. | MSH2017_2016_08_12:INFLAMMATION of the LIVER in animals due to viral infection. | MSHFRE2016:Inflammation du foie d'origine virale chez l'animal. MSH2017_2016_08_12:D006524 C1970943 Major affective disorder 4 BIPOLAR AFFECTIVE DISORDER | BPAD | MAFD4 | MAJOR AFFECTIVE DISORDER 4 | Major Affective Disorder 4 MSH2017_2016_08_12:C567073|OMIM2016_04_17:611247 C4072885 Increased serum testosterone level High serum testosterone level | High serum testosterone levels | Increased serum testosterone level | Increased serum testosterone levels HPO2016_07_04:An elevated circulating testosterone level in the blood. [] HPO2016_07_04:HP:0030088 C3899658 Childhood gliosarcoma Childhood Gliosarcoma NCI2016_02D:A gliosarcoma that occurs during childhood. C0751381 Cramp fasciculation syndrome Benign Fasciculation-Cramp Syndrome | Benign Fasciculation-Cramp Syndromes | Benign fasciculation cramp syndrome | Benign fasciculation-cramp syndrome | Benign fasciculation-cramp syndrome (disorder) | Cramp Fasciculation Syndrome | Cramp-Fasciculation Syndrome | Cramp-Fasciculation Syndromes | Fasciculation Cramp Syndrome, Benign | Fasciculation-Cramp Syndrome, Benign | Fasciculation-Cramp Syndromes, Benign | Foley Denny Brown Syndrome | Foley-Denny-Brown Syndrome | Syndrome of Foley and Denny-Brown | Syndrome, Cramp-Fasciculation | Syndrome, Foley-Denny-Brown | Syndromes, Cramp-Fasciculation | cramp fasciculation syndrome | cramp-fasciculation syndrome | cramping fasciculation syndrome MSH2017_2016_08_12:D009468|SNOMEDCT_US_2016_09_01:230652001 C0349622 Hemangiopericytoma of meninges Haemangiopericytoma of meninges | Hemangiopericytoma of Central Nervous System | Hemangiopericytoma of Meninges | Hemangiopericytoma of meninges | Hemangiopericytoma of meninges (disorder) | Hemangiopericytoma of the Central Nervous System | Hemangiopericytoma of the Meninges | Meningeal Hemangiopericytoma | Meninges Hemangiopericytoma | central nervous system mass lesions meninges hemangiopericytoma | hemangiopericytoma | hemangiopericytoma of meninges | hemangiopericytoma of meninges (diagnosis) NCI2016_02D:A hemangiopericytoma arising from the meninges. SNOMEDCT_US_2016_09_01:277522009 C1708649 Laryngeal adenosquamous carcinoma Laryngeal Adenosquamous Carcinoma NCI2016_02D:A rare, aggressive carcinoma that arises from the larynx. It is characterized by the presence of squamous cell carcinoma and adenocarcinoma components. Hoarseness, sore throat, and dysphagia are the presenting symptoms. C0032051 Placental insufficiency Chronic fetal deprivation syndrome | Insufficiency, Placental | Placental Insufficiency | Placental Insufficiency [Disease/Finding] | Placental insuffic. | Placental insufficiency | Placental insufficiency (disorder) | Placental insufficiency syndrome | insufficiency placental | insufficiency; placental | insufficiency; placental, syndrome | placental disorders insufficiency | placental insufficiency | placental insufficiency (diagnosis) | placental; insufficiency | placental; insufficiency syndrome MSH2017_2016_08_12:Failure of the PLACENTA to deliver an adequate supply of nutrients and OXYGEN to the FETUS. MSH2017_2016_08_12:D010927|SNOMEDCT_US_2016_09_01:156185006|SNOMEDCT_US_2016_09_01:199610002|SNOMEDCT_US_2016_09_01:237292005|SNOMEDCT_US_2016_09_01:267337006 C0338106 Adenocarcinoma of colon Adenocarcinoma - colon | Adenocarcinoma of Colon | Adenocarcinoma of colon | Adenocarcinoma of colon (disorder) | Adenocarcinoma of the Colon | Adenocarcinoma of the colon | COLON ADENOCARCINOMA | COLON NOS CANCER ADENOCARCINOMA | Colon Adenocarcinoma | Colonic Adenocarcinoma | Colonic adenocarcinoma | adenocarcinoma colon | adenocarcinoma colon cancer | adenocarcinoma of colon | adenocarcinoma of the colon | colon adenocarcinoma | colon cancer adenocarcinoma | colon cancer, adenocarcinoma | colon, adenocarcinoma of the NCI2016_02D:An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. HPO2016_07_04:HP:0040276|OMIM2016_04_17:MTHU022891|SNOMEDCT_US_2016_09_01:255082000 C1445953 Poor eye contact Poor eye contact | Poor eye contact (finding) HPO2016_07_04:Difficulty in looking at another person in the eye. [HPO:probinson] HPO2016_07_04:HP:0000817|OMIM2016_04_17:MTHU007279|SNOMEDCT_US_2016_09_01:412786000 C0035353 Retrognathia Congenital retrognathism | Congenital retrognathism (disorder) | RETROGNATHIA | Retrognathia | Retrognathism | Retrognathism NOS | Retrognathism NOS (disorder) | Retrognathisms | retrognathia | retrognathism | retrognathism (diagnosis) MSH2017_2016_08_12:The condition or state of a person suffering from retrognathia. MSH2017_2016_08_12:D063173|OMIM2016_04_17:MTHU042588|SNOMEDCT_US_2016_09_01:109515000|SNOMEDCT_US_2016_09_01:196391009|SNOMEDCT_US_2016_09_01:196395000 C4225427 Singleton-merten syndrome 1 SGMRT1 | SINGLETON-MERTEN SYNDROME 1 OMIM2016_04_17:182250|OMIM2016_04_17:606951 C1332246 Ampulla of vater clear cell adenocarcinoma Ampulla of Vater Clear Cell Adenocarcinoma NCI2016_02D:A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei. C1968816 Broad fingertips Broad fingertip | Broad fingertips HPO2016_07_04:Increased width of the distal segment of a finger. [pmid:19125433] HPO2016_07_04:HP:0011300|OMIM2016_04_17:MTHU020817 C0151436 Vasculitis, leukocytoclastic, cutaneous ANGIITIS, HYPERSENSITIVITY | ANGIITIS, LEUKOCYTOCLASTIC | Allergic Cutaneous Angiitides | Allergic Cutaneous Angiitis | Allergic Cutaneous Vasculitides | Allergic Cutaneous Vasculitis | Allergic Vasculitides, Cutaneous | Allergic Vasculitis, Cutaneous | Allergic cutaneous angiitis | Allergic cutaneous arteriolitis | Allergic cutaneous vasculitis | Allergic vasculitis | Angiitides, Allergic Cutaneous | Angiitides, Cutaneous Leukocytoclastic | Angiitides, Hypersensitivity | Angiitis, Allergic Cutaneous | Angiitis, Cutaneous Leukocytoclastic | Angiitis, Hypersensitivity | Benign leukocytoclastic vasculitis | Cutaneous Allergic Vasculitides | Cutaneous Allergic Vasculitis | Cutaneous Angiitides, Allergic | Cutaneous Angiitis, Allergic | Cutaneous Leukocytoclastic Angiitides | Cutaneous Leukocytoclastic Angiitis | Cutaneous Leukocytoclastic Vasculitides | Cutaneous Leukocytoclastic Vasculitis | Cutaneous Vasculitides, Allergic | Cutaneous Vasculitis, Allergic | Cutaneous hypersensitivity vasculitis | Cutaneous leucocytoclastic angiitis | Cutaneous leukocytoclastic angiitis | Cutaneous leukocytoclastic angiitis (disorder) | Cutaneous small vessel vasculitis | Dermatitis nodularis necroticans | Gougerot-Ruiter syndrome | HYPERSENSITIVITY ANGIITIS | Hypersensitivity Angiitides | Hypersensitivity Angiitis | Hypersensitivity Vasculitides | Hypersensitivity Vasculitis | Hypersensitivity angiitis | Hypersensitivity angiitis (disorder) | Hypersensitivity angiitis NOS | Hypersensitivity angiitis NOS (disorder) | Hypersensitivity angiitis syndrome | Hypersensitivity angiitis, unspecified | Hypersensitivity vasculitis | Leucocytoclastic angiitis | Leucocytoclastic vasculitis | Leukocytoclastic Angiitides, Cutaneous | Leukocytoclastic Angiitis, Cutaneous | Leukocytoclastic Vasculitides, Cutaneous | Leukocytoclastic Vasculitis, Cutaneous | Leukocytoclastic angiitis | Leukocytoclastic vasculitis | Maladie trisymptome | Trisymptome | VASCULITIDES, HYPERSENSITIVITY | VASCULITIS ALLERGIC | VASCULITIS NONSPECIFIC ALLERGICYour gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine.
Your gallbladder is most likely to give you trouble if something blocks the flow of bile through the bile ducts. That is usually a gallstone. Gallstones form when substances in bile harden. Rarely, you can also get cancer in your gallbladder.
Many gallbladder problems get better with removal of the gallbladder. Fortunately, you can live without a gallbladder. Bile has other ways of reaching your small intestine.
| MSH2017_2016_08_12:Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases. | NCI2016_02D:A non-neoplastic or neoplastic disorder that affects the gallbladder. Representative examples of non-neoplastic disorders include acute and chronic cholecystitis, often associated with the presence of gallstones. Representative examples of neoplastic disorders include adenoma, carcinoma, lymphoma, and sarcoma. ICD10CM_2017:K82.9|ICD9CM_2014:575.9|MSH2017_2016_08_12:D005705|SNOMEDCT_US_2016_09_01:155807008|SNOMEDCT_US_2016_09_01:155826000|SNOMEDCT_US_2016_09_01:155829007|SNOMEDCT_US_2016_09_01:266535008|SNOMEDCT_US_2016_09_01:266542008|SNOMEDCT_US_2016_09_01:266543003|SNOMEDCT_US_2016_09_01:39621005 C4023002 Reduced sperm motility Reduced sperm motility HPO2016_07_04:An abnormal reduction in the mobility of ejaculated sperm. [HPO:probinson] HPO2016_07_04:HP:0012207 C0334507 Synovial sarcoma, biphasic Biphasic Sarcoma of Synovium | Biphasic Sarcoma of the Synovium | Biphasic Synovial Sarcoma | Synovial sarcoma - biphasic | Synovial sarcoma, biphasic | Synovial sarcoma, biphasic (morphologic abnormality) | Synovial sarcoma, biphasic type | biphasic synovial sarcoma | biphasic synovial sarcoma (diagnosis) NCI2016_02D:A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component. SNOMEDCT_US_2016_09_01:18588008 C3263723 Traumatic injury INJURY | Injuries | Injury | Injury (disorder) | Injury - disorder | Injury NOS | Injury NOS (disorder) | Injury, NOS | Injury, unspecified | TRAUMATIC INJURY | Trauma | Traumatic Injury | Traumatic injury | Traumatic injury (disorder) | Unspecified injury | Wound | injuries | injury | injury from an external force | trauma | wound CSP2006:damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. | NCI2016_02D:Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. | NCI2016_NCI-GLOSS_1602D:A break in the skin or other body tissues caused by injury or surgical incision (cut). | NCI2016_NCI-GLOSS_1602D:Injury to the body, or an event that causes long-lasting mental or emotional damage. | SNOMEDCT_US_2016_09_01:Disorder resulting from physical damage to the body ICD10CM_2017:T14.9|ICD10CM_2017:T14.90|MSH2017_2016_08_12:D014947|SNOMEDCT_US_2016_09_01:122549002|SNOMEDCT_US_2016_09_01:157670007|SNOMEDCT_US_2016_09_01:157675002|SNOMEDCT_US_2016_09_01:19130008|SNOMEDCT_US_2016_09_01:212497001|SNOMEDCT_US_2016_09_01:269313000|SNOMEDCT_US_2016_09_01:417746004 C4024632 Gonadal dysgenesis with female appearance, male Gonadal dysgenesis with female appearance, male HPO2016_07_04:Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation. [HPO:sdoelken] HPO2016_07_04:HP:0008723 C0020630 Hypophosphatasia Alkaline phosphatase deficiency | Deficiency of alkaline phosphatase | Deficiency of alkaline phosphatase (disorder) | Deficiency of alkaline phosphatase (disorder) [Ambiguous] | HYPOPHOSPHATASIA | Hypophosphatasia | Hypophosphatasia (disorder) | Hypophosphatasia (disorder) [Ambiguous] | Hypophosphatasia [Disease/Finding] | Hypophosphatasia, NOS | Hypophosphatasias | hypophosphatasia | hypophosphatasia (diagnosis) CSP2006:genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia; manifestations include severe skeletal defects resembling vitamin D resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. | MSH2017_2016_08_12:A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed) | NCI2016_02D:A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders. ICD10CM_2017:E83.39|MSH2017_2016_08_12:D007014|SNOMEDCT_US_2016_09_01:124431003|SNOMEDCT_US_2016_09_01:190859005|SNOMEDCT_US_2016_09_01:360792001|SNOMEDCT_US_2016_09_01:70848009 C0013808 Electroconvulsive therapy ELECTROCONVULSIVE THERAPY | Electroconvulsive therapy (includes necessary monitoring) | Electroconvulsive therapy with monitoring | Shock treatment and monitoring | preventive medicine electroconvulsive therapy | preventive medicine electroconvulsive therapy (treatment) C0796223 Mental retardation, x-linked 17 MENTAL RETARDATION, X-LINKED 17 | MRX17 | Mental Retardation, X-Linked 17 | X-linked mental retardation 17 | X-linked mental retardation 17 (MRX17, XLMR17) JABL99:Nonsyndromic mental retardation. MSH2017_2016_08_12:C563140|OMIM2016_04_17:300705 C0018816 Heart septal defects Abnormality of the cardiac septa | CARDIAC SEPTAL DEFECT | CARDIAC SEPTAL DEFECT CONGENITAL | Cardiac Septal Defects | Cardiac septal defect | Cardiac septal defect NOS | Cardiac septal defects | Cardiac septal defects (disorder) | Cardiac septal defects congenital | Congenital Septal Defect | Congenital cardiac septal defect | Congenital cardiac septal defect NOS | Congenital cardiac septal defect, NOS | Congenital malformation of cardiac septum, unspecified | Congenital malformations of cardiac septa | Congenital septal defect | Congenital septal defect (morphologic abnormality) | Congenital septal defect of heart | Congenital septal defect of heart (disorder) | Congenital septal defect of heart, NOS | Congenital septal defect, NOS | Congenital septal defects | Defect, Heart Septal | Defects, Heart Septal | Heart Septal Defect | Heart Septal Defects | Heart Septal Defects [Disease/Finding] | Heart septal defect | Heart septal defects | Holes in the Heart | Septal (heart) defect NOS | Septal Defect, Heart | Septal Defects, Heart | Septal defect | Septal defect (morphologic abnormality) | Septal defect NOS | Septal defect NOS (disorder) | Septal defects | anomaly; heart, septum | cardiac septal defect | congenital defects septal | congenital heart septum defect | congenital septal defect | congenital septal defect (diagnosis) | defect heart septal | defect septal | defect; septum | defects septal | deformity; heart, septum | heart septal defect | heart septal defects | heart; anomaly, septum | heart; deformity, septum | septal defect | septal defect heart | septal heart defect | septum; defect CSP2006:defects in the cardiac septa, resulting in abnormal communications between the opposite chambers of the heart that exist at, and usually before, birth regardless of their causation. | HPO2016_07_04:An anomaly of the intra-atrial or intraventricular septum. [HPO:probinson] | MSH2017_2016_08_12:Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both. | NCI2016_02D:A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum. HPO2016_07_04:HP:0001671|HPO2016_07_04:HP:0004760|ICD10CM_2017:Q21|ICD10CM_2017:Q21.9|MSH2017_2016_08_12:D006343|OMIM2016_04_17:MTHU007485|OMIM2016_04_17:MTHU009060|OMIM2016_04_17:MTHU048628|OMIM2016_04_17:MTHU052959|SNOMEDCT_US_2016_09_01:156916001|SNOMEDCT_US_2016_09_01:204290008|SNOMEDCT_US_2016_09_01:253273004|SNOMEDCT_US_2016_09_01:287081002|SNOMEDCT_US_2016_09_01:396351009|SNOMEDCT_US_2016_09_01:59494005|SNOMEDCT_US_2016_09_01:8352002 C1867155 Ring dermoid of cornea Bilateral, annular limbal dermoids with corneal and conjunctival extension | RDC | RING DERMOID OF CORNEA | Ring dermoid of cornea | Ring dermoid syndrome MSH2017_2016_08_12:C535684|OMIM2016_04_17:180550|OMIM2016_04_17:601542 C0279069 Recurrent angiocentric immunoproliferative lesion Recurrent Angiocentric Immunoproliferative Lesion | Recurrent LYG | Recurrent Lymphomatoid Granulomatosis | Relapsed Angiocentric Immunoproliferative Lesion C0151718 Hypocholesterolemia CHOLESTEROL BLOOD DECREASED | CHOLESTEROL BLOOD LOWERED | CHOLESTEROL BLOOD REDUCED | CHOLESTEROL DEPLETION | Cholesterol Serum Decreased | Decreased circulating cholesterol level | Decreased serum cholesterol | HYPOCHOLESTEREMIA | HYPOCHOLESTEROLAEMIA | HYPOCHOLESTEROLEMIA | Hypocholesteraemia | Hypocholesteremia | Hypocholesteremia, NOS | Hypocholesterolaemia | Hypocholesterolaemia, NOS | Hypocholesterolemia | Hypocholesterolemia (disorder) | Hypocholesterolemia, NOS | SERUM CHOLESTEROL DECREASED | blood cholesterol lowering | blood cholesterol lowers | cholesterol depletion | hypocholesteremia | hypocholesterolaemia | hypocholesterolemia | lower blood cholesterol CSP2006:abnormally diminished amount of cholesterol in the blood. | HPO2016_07_04:An decreased concentration of cholesterol in the blood. [HPO:gcarletti] HPO2016_07_04:HP:0003146|OMIM2016_04_17:MTHU009711|OMIM2016_04_17:MTHU022197|SNOMEDCT_US_2016_09_01:61336008 C1845293 Premature ovarian failure 2a POF2A | PREMATURE OVARIAN FAILURE 2A | Premature Ovarian Failure 2a MSH2017_2016_08_12:C564498|OMIM2016_04_17:300108|OMIM2016_04_17:300511 C1334615 Malignant phyllodes tumor of prostate Malignant Phyllodes Neoplasm of Prostate | Malignant Phyllodes Neoplasm of the Prostate | Malignant Phyllodes Tumor of Prostate | Malignant Phyllodes Tumor of the Prostate | Malignant Prostate Phyllodes Neoplasm | Malignant Prostate Phyllodes Tumor | Phyllodes Tumor of the Prostate NCI2016_02D:An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia. MSH2017_2016_08_12:C549759 C1850196 Posterior scalloping of vertebral bodies Posterior scalloping of vertebral bodies | Posterior vertebral body scalloping HPO2016_07_04:An excessive concavity of the posterior surface of one or more vertebral bodies. [HPO:probinson] HPO2016_07_04:HP:0005121|OMIM2016_04_17:MTHU005070|OMIM2016_04_17:MTHU010390 C4015062 Combined oxidative phosphorylation deficiency 22 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 | COXPD22 OMIM2016_04_17:616045 C1303076 Tortuous carotid artery Carotid artery tortuosity | Tortuous carotid arteries | Tortuous carotid artery | Tortuous carotid artery (finding) | tortuosity of carotid artery | tortuosity of carotid artery (physical finding) HPO2016_07_04:Abnormal tortuous (i.e., twisted) form of the carotid arteries. [HPO:probinson] HPO2016_07_04:HP:0005302|SNOMEDCT_US_2016_09_01:401051003 C1421143 Trh gene THYROTROPIN-RELEASING HORMONE | TRH | TRH Gene | TRH gene | Thyrotropin-Releasing Hormone Gene | prothyroliberin | thyrotropin releasing hormone NCI2016_02D:This gene plays a regulatory role in the biosynthesis of thyroid stimulating hormone. OMIM2016_04_17:613879 C1837029 Macular dystrophy, butterfly-shaped pigmentary, 2 MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2 | MACULAR DYSTROPHY, PATTERNED, 2 | MDPT2 | Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 MSH2017_2016_08_12:C536309|OMIM2016_04_17:116805|OMIM2016_04_17:608970 C0341966 Shock obstetric syndrome Maternal hypotension synd.unsp | Maternal hypotension syndr.NOS | Maternal hypotension syndrome | Maternal hypotension syndrome (disorder) | Maternal hypotension syndrome NOS | Maternal hypotension syndrome NOS (disorder) | Maternal hypotension syndrome unspecified | Maternal hypotension syndrome unspecified (disorder) | Maternal hypotension syndrome, unspecified trimester | Obstetric shock syndrome | Supine hypotensive syndrome | hypotension; maternal syndrome | maternal hypotension syndrome | maternal hypotension syndrome (diagnosis) | maternal; hypotension syndrome | maternal; syndrome, hypotension | shock obstetric syndrome | supine hypotensive syndrome | supine hypotensive; syndrome | syndrome; maternal hypotension | syndrome; supine hypotensive ICD10CM_2017:O26.5|ICD10CM_2017:O26.50|ICD9CM_2014:669.2|SNOMEDCT_US_2016_09_01:200110006|SNOMEDCT_US_2016_09_01:200115001|SNOMEDCT_US_2016_09_01:88887003 C0395925 Hyperactive labyrinth Hyperactive labyrinthine dysfunction | Hyperactive labyrinthine dysfunction (disorder) | Irritant labyrinthine dysfunction | hyperactive labyrinth | hyperactive labyrinth (diagnosis) SNOMEDCT_US_2016_09_01:232291005 C2675472 Diabetes mellitus, insulin-dependent, 23 DIABETES MELLITUS, INSULIN-DEPENDENT, 23 | Diabetes Mellitus, Insulin-Dependent, 23 | IDDM23 MSH2017_2016_08_12:C567233|OMIM2016_04_17:612622 C0391826 Lhermitte-duclos disease Cerebellum Dysplastic Gangliocytoma | Cerebellum Dysplastic Gangliocytomas | DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM | Dysplastic Cerebellar Gangliocytoma | Dysplastic Gangliocytoma of Cerebellum | Dysplastic Gangliocytoma of the Cerebellum | Dysplastic cerebellar gangliocytoma | LDD | LHERMITTE-DUCLOS DISEASE | Lhermitte Duclos Disease | Lhermitte-Duclos Disease | Lhermitte-Duclos disease | Lhermitte-Duclos disease (diagnosis) | Lhermitte-Duclos disease (disorder) | neoplasm of head intracranial tumor lhermitte-duclos disease NCI2016_02D:A benign, WHO grade I cerebellar mass, which occurs in young adults and is composed of dysplastic ganglion cells. It is the major CNS manifestation of Cowden disease, an autosomal dominant condition that causes a variety of hamartomas and neoplasms.(from WHO) MSH2017_2016_08_12:D006223|OMIM2016_04_17:158350|OMIM2016_04_17:601728|OMIM2016_04_17:MTHU017010|SNOMEDCT_US_2016_09_01:67944007 C0017662 Glomerulonephritis, membranoproliferative Chronic glomerulonephritis, lobular | Chronic lobular glomerulonephritis | GLOMERULONEPHRITIS MEMBRANOPROLIFERATIVE | GLOMERULONEPHRITIS, HYPOCOMPLEMENTEMIC, CHRONIC | GLOMERULONEPHRITIS, MEMBRANOPROLIFERATIVE | GLOMERULONEPHRITIS, MESANGIOCAPILLARY | Glomerulonephritides, Hypocomplementemic | Glomerulonephritides, Membranoproliferative | Glomerulonephritides, Mesangiocapillary | Glomerulonephritis membranoproliferative | Glomerulonephritis, Hypocomplementemic | Glomerulonephritis, Membranoproliferative | Glomerulonephritis, Membranoproliferative [Disease/Finding] | Glomerulonephritis, Mesangiocapillary | Glomerulonephritis, membranoproliferative | Hypocomplementemic Glomerulonephritides | Hypocomplementemic Glomerulonephritis | Lobular glomerulonephritis | MCGN - Mesangiocapillary glomerulonephritis | MPGN | MPGN - Membranoproliferative glomerulonephritis | Membranoproliferative Glomerulonephritides | Membranoproliferative Glomerulonephritis | Membranoproliferative glomerulonephritis | Membranoproliferative glomerulonephritis (diagnosis) | Membranoproliferative glomerulonephritis NOS | Mesangial capillary glomerulonephritis | Mesangiocapillary Glomerulonephritides | Mesangiocapillary Glomerulonephritis | Mesangiocapillary glomerulonephritis | Mesangiocapillary glomerulonephritis (diagnosis) | Mesangiocapillary glomerulonephritis (disorder) | Mesangiocapillary glomerulonephritis, NOS | glomerulonephritis membranoproliferative | glomerulonephritis mesangiocapillary | membranoproliferative glomerulonephritis (MPGN) | mpgn | nephropathy due to membranoproliferative glomerulonephritis | nephropathy due to membranoproliferative glomerulonephritis (diagnosis) HPO2016_07_04:Proliferation of mesangial cells, increase in the mesangial extracellular matrix, and a thickening of the glomerular capillary walls. [Eurenomics:fschaefer, MeSH:D015432] | MSH2017_2016_08_12:Chronic glomerulonephritis characterized histologically by proliferation of MESANGIAL CELLS, increase in the MESANGIAL EXTRACELLULAR MATRIX, and a thickening of the glomerular capillary walls. This may appear as a primary disorder or secondary to other diseases including infections and autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Various subtypes are classified by their abnormal ultrastructures and immune deposits. Hypocomplementemia is a characteristic feature of all types of MPGN. | NCI2016_02D:Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli. | NCI2016_NICHD_1602D:Proliferative glomerulonephritis characterized by mesangial hypercellularity, endocapillary proliferation and glomerular capillary wall remodeling. HPO2016_07_04:HP:0000793|MSH2017_2016_08_12:D015432|OMIM2016_04_17:MTHU048518|SNOMEDCT_US_2016_09_01:80321008 C0032320 Pneumoperitoneum Free air in abdomen | Free air in peritoneal cavity | PERITONEAL FREE AIR | PNEUMOPERITONEUM | PP - Pneumoperitoneum | Peritoneal cavity free air | Pneumoabdomen | Pneumoperitoneum | Pneumoperitoneum (disorder) | Pneumoperitoneum [Disease/Finding] | pneumoperitoneum MSH2017_2016_08_12:A condition with trapped gas or air in the PERITONEAL CAVITY, usually secondary to perforation of the internal organs such as the LUNG and the GASTROINTESTINAL TRACT, or to recent surgery. Pneumoperitoneum may be purposely introduced to aid radiological examination. | NCI2016_02D:Free air within the peritoneal cavity.(NICHD) | NCI2016_NICHD_1602D:Free air within the peritoneal cavity. MSH2017_2016_08_12:D011027|SNOMEDCT_US_2016_09_01:17204006|SNOMEDCT_US_2016_09_01:182699003|SNOMEDCT_US_2016_09_01:266803002 C1266087 Acinar cell cystadenocarcinoma Acinar Cell Cystadenocarcinoma | Acinar Cell Cystadenocarcinoma of Pancreas | Acinar Cell Cystadenocarcinoma of the Pancreas | Acinar cell cystadenocarcinoma | Acinar cell cystadenocarcinoma (morphologic abnormality) | Pancreatic Acinar Cell Cystadenocarcinoma | acinar cell cystadenocarcinoma | acinar cell cystadenocarcinoma (diagnosis) | acinar cell cystadenocarcinoma of pancreas | acinar cell cystadenocarcinoma of pancreas (diagnosis) NCI2016_02D:A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course. SNOMEDCT_US_2016_09_01:128703004 C1849011 Spondylometaepiphyseal dysplasia, short limb-hand type SMED Type II | SMED, SHORT LIMB-ABNORMAL CALCIFICATION TYPE | SMED, SHORT LIMB-HAND TYPE | SMED, Short Limb-Abnormal Calcification Type | SMED, Short Limb-Hand Type | SMED, TYPE II | SMED-SL | SMED-SL/AC | SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-ABNORMAL CALCIFICATION TYPE | SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE | Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type | Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type MSH2017_2016_08_12:C564794|OMIM2016_04_17:191311|OMIM2016_04_17:271665 C1512738 Infiltrating bladder urothelial carcinoma, lipid-cell variant Infiltrating Bladder Urothelial Carcinoma, Lipid-Cell Variant C0027429 Nasal obstruction present finding AIRWAY OBSTRUCTION NASAL | Airway Obstruction, Nasal | Blockage of nose | Blockage, Nasal | Blockages, Nasal | Blocked nose | Blocked;nose | NO - Nasal obstruction | Nasal Airway Obstruction | Nasal Blockage | Nasal Blockages | Nasal Obstruction | Nasal Obstruction [Disease/Finding] | Nasal airway obstruction | Nasal airway obstruction (finding) | Nasal blockage | Nasal obstruction | Nasal obstruction (disorder) | Nasal obstruction (finding) | Nasal obstruction present | Nasal obstruction present (context-dependent category) | Nasal obstruction present (finding) | Nasal obstruction present (situation) | Nasal obstruction present finding | Obstruction of nose | Obstruction, Nasal | Obstruction, Nasal Airway | Obstruction;nasal | Obstructions, Nasal | [D]Nasal obstruction | [D]Nasal obstruction (context-dependent category) | [D]Nasal obstruction (situation) | blocked nose | nasal obstruction | nose; obstruction | obstruction nasal | obstruction; nose HPO2016_07_04:Reduced ability to pass air through the nasal cavity often leading to mouth breathing. [HPO:probinson] | MSH2017_2016_08_12:Any hindrance to the passage of air into and out of the nose. The obstruction may be unilateral or bilateral, and may involve any part of the NASAL CAVITY. HPO2016_07_04:HP:0001742|MSH2017_2016_08_12:D015508|OMIM2016_04_17:MTHU016480|OMIM2016_04_17:MTHU047644|SNOMEDCT_US_2016_09_01:111963001|SNOMEDCT_US_2016_09_01:139650002|SNOMEDCT_US_2016_09_01:139654006|SNOMEDCT_US_2016_09_01:162380009|SNOMEDCT_US_2016_09_01:162384000|SNOMEDCT_US_2016_09_01:195826005|SNOMEDCT_US_2016_09_01:195830008|SNOMEDCT_US_2016_09_01:207000001|SNOMEDCT_US_2016_09_01:232209000|SNOMEDCT_US_2016_09_01:267100006 C0740697 Psychosocial problem PSYCHOSOCIAL PROBLEM | Psychosocial problem | problem; psychosocial | problems psychosocial | psychosocial problem | psychosocial; problem C0406319 Sebopsoriasis Psoriasis-eczema overlap condition | Psoriasis-eczema overlap condition (disorder) | Sebopsoriasis SNOMEDCT_US_2016_09_01:238602009 C1842402 Tropical calcific pancreatitis TCP | TROPICAL CALCIFIC PANCREATITIS | Tropical Calcific Pancreatitis MSH2017_2016_08_12:C564276|OMIM2016_04_17:167790|OMIM2016_04_17:608189 C2675650 Brain small vessel disease with axenfeld rieger anomaly BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY | Brain Small Vessel Disease With Axenfeld-Rieger Anomaly | LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY | Leukoencephalopathy With Axenfeld-Rieger Anomaly MSH2017_2016_08_12:C564372|OMIM2016_04_17:607595 C1274262 Miliaria rubra, infantile Miliaria rubra, infantile | Miliaria rubra, infantile (disorder) SNOMEDCT_US_2016_09_01:402822004 C0750209 Vertebra arthritis djd VERTEBRA ARTHRITIS DJD C3554447 Dystonia 25 DYSTONIA 25 | DYT25 OMIM2016_04_17:139312|OMIM2016_04_17:615073 C0038531 Subclavian artery stenosis Artery Stenoses, Subclavian | Artery Stenosis, Subclavian | BRACHIAL-BASILAR INSUFFICIENCY SYNDROME | Basilar Steal Syndrome | Basilar Steal Syndromes | Brachial Basilar Insufficiency Syndrome | Brachial-Basilar Insufficiency Syndrome | Brachial-Basilar Insufficiency Syndromes | Insufficiency Syndrome, Brachial-Basilar | Insufficiency Syndromes, Brachial-Basilar | SUBCLAVIAN ARTERY STENOSIS | SUBCLAVIAN STEAL SYNDROME | Steal Syndrome, Basilar | Steal Syndrome, Subclavian | Steal Syndromes, Basilar | Steal Syndromes, Subclavian | Stenoses, Subclavian Artery | Stenosis, Subclavian Artery | Subclavian Artery Stenoses | Subclavian Artery Stenosis | Subclavian Steal Syndrome | Subclavian Steal Syndrome [Disease/Finding] | Subclavian Steal Syndromes | Subclavian artery stenosis | Subclavian artery stenosis (disorder) | Subclavian steal syndrome | Subclavian steal syndrome (disorder) | Syndrome, Brachial-Basilar Insufficiency | Syndromes, Brachial-Basilar Insufficiency | artery stenosis subclavian | steal subclavian syndrome | subclavian artery stenosis | subclavian steal syndrome | subclavian steal syndrome (diagnosis) | subclavian steal; syndrome | subclavian stenosis | subclavian stenosis (diagnosis) | syndrome; subclavian steal MSH2017_2016_08_12:A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8) | NCI2016_02D:An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention. ICD9CM_2014:435.2|MSH2017_2016_08_12:D013349|SNOMEDCT_US_2016_09_01:15258001|SNOMEDCT_US_2016_09_01:300921000 C0020617 Hypoglycemic coma COMA HYPOGLYCAEMIC | COMA HYPOGLYCEMIC | Coma associated with hypoglycemia | Coma caused by low blood sugar | Coma hypoglycaemic | Coma hypoglycemic | Coma, hypoglycemic | Coma;hypoglycaemic | Hypoglycaemic coma | Hypoglycaemic coma NOS | Hypoglycemic coma | Hypoglycemic coma (disorder) | Hypoglycemic coma (disorder) [Ambiguous] | Hypoglycemic coma NOS | Hypoglycemic coma NOS (disorder) | Loss of consciousness due to hypoglycemia | Loss on consciousness due to hypoglycemia | coma; hypoglycemia | coma; hypoglycemic | hypoglycaemic coma | hypoglycemia; coma | hypoglycemic coma | hypoglycemic; coma HPO2016_07_04:HP:0001325|ICD9CM_2014:251.0|OMIM2016_04_17:MTHU000369|OMIM2016_04_17:MTHU000411|OMIM2016_04_17:MTHU000415|OMIM2016_04_17:MTHU026239|SNOMEDCT_US_2016_09_01:154692004|SNOMEDCT_US_2016_09_01:190428000|SNOMEDCT_US_2016_09_01:190430003|SNOMEDCT_US_2016_09_01:267384006|SNOMEDCT_US_2016_09_01:267476006|SNOMEDCT_US_2016_09_01:71898001 C3714509 Nutrition disorders Disease;nutritional | Diseases of Nutrition | Disorder of nutrition | Disorder of nutrition (disorder) | Disorder;nutritional | NUTRITIONAL DISORDERS | NUTRITIONAL DISORDERS: GENERAL TERMS | Nutrition Disorder | Nutrition Disorders | Nutrition Disorders [Disease/Finding] | Nutrition disorders | Nutritional Disorder | Nutritional Disorders | Nutritional disease | Nutritional disease, NOS | Nutritional disorder | Nutritional disorder (disorder) | Nutritional disorder, NOS | Nutritional problems | Problem;nutritional | disease nutrition | disease nutritional | diseases nutrition | diseases nutritional | disorder nutrition | disorder; nutritional | disorders nutrition | nutrition disease | nutrition diseases | nutrition disorder | nutrition disorders | nutritional disease | nutritional disorder | nutritional disorder (diagnosis) | nutritional disorders | nutritional problem | nutritional problems | nutritional; disorder CSP2006:disorders caused by nutritional imbalance, either overnutrition or undernutrition. | MSH2017_2016_08_12:Disorders caused by nutritional imbalance, either overnutrition or undernutrition. | NCI2016_02D:Any condition related to a disturbance between proper intake and utilization of nourishment. MSH2017_2016_08_12:D009748|SNOMEDCT_US_2016_09_01:191077005|SNOMEDCT_US_2016_09_01:2492009 C4027440 Vasoconstrictor induced headache with intractable headache vasoconstrictor induced headache with intractable headache | vasoconstrictor induced headache with intractable headache (diagnosis) C0042487 Venous thrombosis Blood clot in vein | PHLEBOTHROMBOSIS | Phlebothromboses | Phlebothrombosis | Phlebothrombosis (disorder) | Phlebothrombosis, NOS | THROMBOSIS VENOUS | Thromboses, Venous | Thrombosis (vein) NOS | Thrombosis of vein NOS | Thrombosis of vein NOS (disorder) | Thrombosis venous | Thrombosis, Venous | Thrombosis;venous | VENOUS THROMBOSIS | Vein thrombosis | Venous Thromboses | Venous Thrombosis | Venous Thrombosis [Disease/Finding] | Venous thrombosis | Venous thrombosis (disorder) | Venous thrombosis NOS | Venous thrombosis, NOS | a blood clot in the vein | clot (blood); vein | phlebothrombosis | thrombosis venous | vein thrombosis | vein; clot (blood) | venous thromboses | venous thrombosis | venous thrombosis (diagnosis) CSP2006:presence of an aggregation of blood factors, primarily fibrin and platelets, (thrombus) in a vein. | HPO2016_07_04:Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. [HPO:probinson] | MSH2017_2016_08_12:The formation or presence of a blood clot (THROMBUS) within a vein. | NCI2016_02D:The formation of a blood clot (thrombus) in the lumen of a vein. | NCI2016_NICHD_1602D:Partial or complete occlusion of the lumen of a vein by a thrombus. HPO2016_07_04:HP:0004936|ICD10CM_2017:I82.90|MSH2017_2016_08_12:D020246|OMIM2016_04_17:188050|OMIM2016_04_17:MTHU002871|SNOMEDCT_US_2016_09_01:111293003|SNOMEDCT_US_2016_09_01:155458001|SNOMEDCT_US_2016_09_01:18266009|SNOMEDCT_US_2016_09_01:195442006|SNOMEDCT_US_2016_09_01:266269008 C1859209 Cervical vertebral fusion, autosomal recessive CERVICAL VERTEBRAL FUSION, AUTOSOMAL RECESSIVE | Cervical vertebral fusion, autosomal recessive | KFS, AUTOSOMAL RECESSIVE | KFS2 | KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE | Kfs, Autosomal Recessive | Klippel Feil syndrome recessive type | Klippel-Feil Syndrome, Autosomal Recessive MSH2017_2016_08_12:C536888|OMIM2016_04_17:214300 C0741011 Anemia symptomatic ANEMIA SYMPTOMATIC C0265780 Congenital absence of lung Absence of lung | Agenesis of lung | Agenesis of lung (disorder) | Agenesis of lung NOS | Agenesis of lung NOS (disorder) | Aplasia of lung | Aplasia of lung (disorder) | Apulmonism | Congenital Absence of Lung | Congenital absence of lung | Congenital absence of lung (disorder) | Congenital aplasia of lung | Congenital aplasia of lung (disorder) | Congenital lung agenesis | LUNG AGENESIS | Lung agenesis | Pulmonary Agenesis | Pulmonary agenesis | Pulmonary aplasia | absence; lung | agenesis of lung | agenesis of lung (diagnosis) | agenesis; lung | aplasia; lung | congenital anomaly of lung agenesis | lung; absent | lung; agenesis | lung; aplasia | pulmonary agenesis NCI2016_02D:An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities. ICD10CM_2017:Q33.3|MSH2017_2016_08_12:C562992|OMIM2016_04_17:265430|OMIM2016_04_17:MTHU012390|OMIM2016_04_17:MTHU033241|SNOMEDCT_US_2016_09_01:156936000|SNOMEDCT_US_2016_09_01:204573001|SNOMEDCT_US_2016_09_01:204576009|SNOMEDCT_US_2016_09_01:66489009|SNOMEDCT_US_2016_09_01:702612001 C1853365 Aortic aneurysm, familial abdominal 1 AAA1 | AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 | AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 1 | Aortic Aneurysm, Familial Abdominal 1 MSH2017_2016_08_12:C565230|OMIM2016_04_17:100070 C2063886 Esophageal adenosquamous carcinoma Esophageal Adenosquamous Carcinoma | adenosquamous carcinoma of esophagus | adenosquamous carcinoma of esophagus (diagnosis) NCI2016_02D:An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components. C4072845 Hyperplasia of hypophysial fossa Hyperplasia of hypophysial fossa | Hyperplasia of pituitary fossa HPO2016_07_04:HP:0002690 C3279800 Keppen-lubinsky syndrome KEPPEN-LUBINSKY SYNDROME | KPLBS OMIM2016_04_17:600877|OMIM2016_04_17:614098 C0341960 Edema pregnancy Edema;pregnancy | Gestational edema | Gestational edema (disorder) | Gestational oedema | Gestational oedema (disorder) | Oedema;pregnancy | edema pregnancy | edema; pregnancy | gestational edema | gestational edema (diagnosis) | oedema pregnancy | pregnancy associated edema | pregnancy associated oedema | pregnancy edema | pregnancy; edema ICD10CM_2017:O12.0|SNOMEDCT_US_2016_09_01:156124007|SNOMEDCT_US_2016_09_01:199072001|SNOMEDCT_US_2016_09_01:237285000 C0270211 Foetal or neonatal jaundice from infection Fetal OR neonatal jaundice from infection | Fetal OR neonatal jaundice from infection (disorder) | Fetal or neonatal jaundice from infection | Foetal OR neonatal jaundice from infection | Foetal or neonatal jaundice from infection | Neonatal jaundice due to infection | neonatal jaundice due to excessive hemolysis infection | neonatal jaundice due to infection | neonatal jaundice due to infection (diagnosis) ICD10CM_2017:P58.2|SNOMEDCT_US_2016_09_01:89062002 C0037199 Sinusitis SINUS INFECTION | SINUSITIS | Sinus Infection | Sinus infection | Sinus inflammation | Sinusitides | Sinusitis | Sinusitis (disorder) | Sinusitis NOS | Sinusitis [Disease/Finding] | Sinusitis, NOS | Unspecified sinusitis | infected; sinus | infection; sinus | inflammation; nasal sinus | inflammation; sinus | nasal sinus; inflammation | sinus infection | sinus; infected | sinus; infection | sinus; inflammation | sinusitis | sinusitis (diagnosis) CSP2006:inflammatory process of the mucous membranes of the paranasal sinuses that occurs in three stages: acute, subacute, and chronic; results from any condition causing ostial obstruction or from pathophysiologic changes in the mucociliary transport mechanism. | HPO2016_07_04:Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. [HPO:probinson] | MEDLINEPLUS_20151021:Sinusitis means your sinuses are inflamed. The cause can be an infection or another problem. Your sinuses are hollow air spaces within the bones surrounding the nose. They produce mucus, which drains into the nose. If your nose is swollen, this can block the sinuses and cause pain.
There are several types of sinusitis, including
Acute sinusitis often starts as a cold, which then turns into a bacterial infection. Allergies, nasal problems, and certain diseases can also cause acute and chronic sinusitis.
Symptoms of sinusitis can include fever, weakness, fatigue, cough, and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. Your health care professional diagnoses sinusitis based on your symptoms and an examination of your nose and face. You may also need imaging tests. Treatments include antibiotics, decongestants, and pain relievers. Using heat pads on the inflamed area, saline nasal sprays, and vaporizers can also help.
NIH: National Institute of Allergy and Infectious Diseases
| MSH2017_2016_08_12:Inflammation of the NASAL MUCOSA in one or more of the PARANASAL SINUSES. | NCI2016_02D:An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity. | NCI2016_CTCAE_1602D:A disorder characterized by an infectious process involving the mucous membranes of the paranasal sinuses. | NCI2016_NICHD_1602D:Inflammation of the mucous membranes lining a sinus cavity. HPO2016_07_04:HP:0000246|MSH2017_2016_08_12:D012852|OMIM2016_04_17:MTHU006260|SNOMEDCT_US_2016_09_01:195649005|SNOMEDCT_US_2016_09_01:275483004|SNOMEDCT_US_2016_09_01:36971009 C0041188 Pyomyositis, tropical Myositis, Tropical | PYOMYOSITIS, TROPICAL | Tropical Myositis | Tropical myositis | Tropical pyomyositis | Tropical pyomyositis (disorder) | Tropical pyomyositis [dup] (disorder) | pyomyositis | tropical myositis | tropical pyomyositis ICD10CM_2017:M60.0|ICD9CM_2014:040.81|MSH2017_2016_08_12:D052880|SNOMEDCT_US_2016_09_01:186430009|SNOMEDCT_US_2016_09_01:65110003 C1285329 Infection of head Infection of head | Infective disorder of head | Infective disorder of head (disorder) SNOMEDCT_US_2016_09_01:363166002 C0206160 Reticulocytosis Increased reticulocyte count | Increased reticulocytes | RBC's - reticulocytes present | RETIC COUNT ELEVATED | RETICULOCYTES INCREASED | RETICULOCYTOSIS | Reticulocyte count above reference range | Reticulocytoses | Reticulocytosis | Reticulocytosis (finding) | Reticulocytosis [Disease/Finding] HPO2016_07_04:An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. [HPO:probinson] | MSH2017_2016_08_12:An increase in circulating RETICULOCYTES, which is among the simplest and most reliable signs of accelerated ERYTHROCYTE production. Reticulocytosis occurs during active BLOOD regeneration (stimulation of red bone marrow) and in certain types of ANEMIA, particularly CONGENITAL HEMOLYTIC ANEMIA. HPO2016_07_04:HP:0001923|MSH2017_2016_08_12:D045262|OMIM2016_04_17:MTHU009073|OMIM2016_04_17:MTHU009747|SNOMEDCT_US_2016_09_01:142899000|SNOMEDCT_US_2016_09_01:165491008|SNOMEDCT_US_2016_09_01:46049004 C0002064 Alkalosis, respiratory ALKALOSIS RESPIRATORY | Alkaloses, Respiratory | Alkalosis respiratory | Alkalosis, Respiratory | Alkalosis, Respiratory [Disease/Finding] | Alkalosis, respiratory | RESPIRATORY ALKALOSIS | Respiratory Alkaloses | Respiratory Alkalosis | Respiratory alkaloses | Respiratory alkalosis | Respiratory alkalosis (disorder) | Respiratory alkalosis, NOS | alkalosis respiratory | respiratory alkalosis | respiratory alkalosis (diagnosis) HPO2016_07_04:Alkalosis due to excess loss of carbon dioxide from the body. [HPO:probinson] | MSH2017_2016_08_12:A state due to excess loss of carbon dioxide from the body. (Dorland, 27th ed) | NCI2016_02D:A condition in which the blood pH is greater than normal, secondary to impaired gas exchange. | NCI2016_FDA_1602D:A pathologic condition resulting from accumulation of base, or from loss of acid without comparable loss of base in the body fluids, and characterized by decrease in hydrogen ion concentration. | NCI2016_NICHD_1602D:A condition in which the blood pH is greater than normal, secondary to impaired gas exchange. HPO2016_07_04:HP:0001950|ICD10CM_2017:E87.3|MSH2017_2016_08_12:D000472|OMIM2016_04_17:MTHU037253|SNOMEDCT_US_2016_09_01:111378004 C2930995 Dyschromatosis universalis hereditaria Dyschromatosis universalis hereditaria MSH2017_2016_08_12:C535730 C0920196 Carcinoma of eyelid Blepharal carcinoma | Carcinoma of Eyelid | Carcinoma of the Eyelid | Eyelid Carcinoma NCI2016_02D:A carcinoma that arises from the eyelid. Examples include basal cell carcinoma and squamous cell carcinoma. C0541719 Erythrocytosis, stress ERYTHROCYTOSIS, STRESS | Emotional polycythaemia | Emotional polycythemia | POLYCYTHEMIA, EMOTIONAL | POLYCYTHEMIA, STRESS | Polycythemia, emotional | Polycythemia, stress | Stress Polycythemia | Stress polycythaemia | Stress polycythemia | Stress polycythemia (disorder) | Stress polycythemia [dup] (disorder) | emotional polycythemia | emotional polycythemia (diagnosis) | emotional; polycythemia | gaisbock syndrome | gaisbock's syndrome | gaisbocks syndrome | polycythaemia hypertonica | polycythemia hypertonica | polycythemia stress | polycythemia; emotional | polycythemia; stress | secondary polycythemia emotional | stress erythrocytosis | stress polycythemia | stress; polycythemia ICD10CM_2017:D75.1|SNOMEDCT_US_2016_09_01:191371001|SNOMEDCT_US_2016_09_01:36874002 C0028960 Oligozoospermia HYPOSPERMATOGENESIS | Hypospermatogeneses | Hypospermatogenesis | Low Sperm Count | Low Sperm Counts | Low sperm count | OLIGOSPERMIA | Oligoasthenoteratozoospermia | Oligoasthenoteratozoospermias | Oligospermia | Oligospermia NOS | Oligospermia [Disease/Finding] | Oligozoospermia | Sperm Count, Low | Sperm Counts, Low | hypospermatogenesis | oligospermia | oligospermia (diagnosis) | oligozoospermia HPO2016_07_04:Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. [HPO:probinson] | MSH2017_2016_08_12:A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen. | NCI2016_02D:Decreased number of spermatozoa in the semen. | NCI2016_CTCAE_1602D:A disorder characterized by a decrease in the number of spermatozoa in the semen. | NCI2016_NICHD_1602D:Decreased number of spermatozoa in the semen. HPO2016_07_04:HP:0000798|ICD10CM_2017:N46.1|ICD10CM_2017:N46.11|ICD9CM_2014:606.1|MSH2017_2016_08_12:D009845|OMIM2016_04_17:400042|OMIM2016_04_17:MTHU005257|OMIM2016_04_17:MTHU040914|OMIM2016_04_17:MTHU048313|OMIM2016_04_17:MTHU050460 C0152183 Explosive personality disorder Explosive Disorder | Explosive Personality | Explosive personality | Explosive personality (disorder) | Explosive personality disorder | Explosive personality disorder (disorder) | Impulsive personality disorder | [X]Explosive personality disorder | disorder explosive personality | explosive disorder | explosive disorder (diagnosis) | explosive personality | explosive personality disorder | explosive personality disorder (diagnosis) | explosive; personality disorder | impulsive personality disorder | personality disorder; explosive PSY2004:Disorder characterized by discrete episodes of loss of control of aggressive impulses that may result in serious assault or destruction of property. ICD10CM_2017:F60.3|ICD9CM_2014:301.3|SNOMEDCT_US_2016_09_01:191759005|SNOMEDCT_US_2016_09_01:192488005|SNOMEDCT_US_2016_09_01:231527003|SNOMEDCT_US_2016_09_01:268757006 C0878544 Cardiomyopathies CARDIOMYOPATHIES | CARDIOMYOPATHY | Cardiomyopathies | Cardiomyopathies [Disease/Finding] | Cardiomyopathy | Cardiomyopathy (disorder) | Cardiomyopathy NOS | Cardiomyopathy NOS (disorder) | Cardiomyopathy, NOS | Cardiomyopathy, unspecified | Disease, Myocardial | Diseases, Myocardial | Disorder of heart muscle | Disorder of myocardium | Myocardial Disease | Myocardial Diseases | Myocardial disease | Myocardial disease (disorder) | Myocardial disease, NOS | Myocardiodystrophy | Myocardiopathies | Myocardiopathy | Myocardiopathy, NOS | Myocardium--Diseases | cardiomyopathies | cardiomyopathy | cardiomyopathy (diagnosis) | disorder of myocardium | heart muscle disease | heart muscle disorder | myocardial disease | myocardial diseases | myocardiopathy | myocardium disorder | myocardium; disease CSP2006:condition in which there is a deviation from or interruption of the normal structure or function of the myocardium, the middle and thickest layer of the heart wall, composed of heart muscle. | HPO2016_07_04:A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. [HPO:probinson, pmid:17916581] | MEDLINEPLUS_20151021:Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or make it thicker and more rigid than normal. In rare cases, scar tissue replaces the muscle tissue.
Some people live long, healthy lives with cardiomyopathy. Some people don't even realize they have it. In others, however, it can make the heart less able to pump blood through the body. This can cause serious complications, including
Heart attacks, high blood pressure, infections, and other diseases can all cause cardiomyopathy. Some types of cardiomyopathy run in families. In many people, however, the cause is unknown. Treatment might involve medicines, surgery, other medical procedures, and lifestyle changes.
NIH: National Heart, Lung, and Blood Institute
| MSH2017_2016_08_12:A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS). | NCI2016_02D:A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. | NCI2016_CDISC_1602D:A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. | NCI2016_NICHD_1602D:A disease of the heart muscle. HPO2016_07_04:HP:0001638|ICD10CM_2017:I42|ICD10CM_2017:I42.9|ICD10CM_2017:I51.5|ICD9CM_2014:425|MSH2017_2016_08_12:D009202|OMIM2016_04_17:MTHU036362|SNOMEDCT_US_2016_09_01:155351008|SNOMEDCT_US_2016_09_01:155353006|SNOMEDCT_US_2016_09_01:195037005|SNOMEDCT_US_2016_09_01:266301006|SNOMEDCT_US_2016_09_01:57809008|SNOMEDCT_US_2016_09_01:85898001 C0268350 Cutis laxa, autosomal dominant Cutis Laxa, Autosomal Dominant | Cutis laxa, autosomal dominant | Cutis laxa, autosomal dominant (disorder) | cutis laxa autosomal dominant | cutis laxa autosomal dominant (diagnosis) MSH2017_2016_08_12:C562627|SNOMEDCT_US_2016_09_01:111388003 C1862132 Short ulnae Short ulna | Short ulnae HPO2016_07_04:HP:0003022|OMIM2016_04_17:MTHU000821|OMIM2016_04_17:MTHU012160 C0859976 Idiopathic achalasia of esophagus Achalasia cardia | Idiopathic achalasia | Idiopathic achalasia of esophagus | Idiopathic achalasia of esophagus (disorder) | Idiopathic achalasia of oesophagus | Primary achalasia SNOMEDCT_US_2016_09_01:Characterised by loss of oesophageal peristalsis and insufficient lower oesophageal sphincter relaxation in response to deglutition. A rare disease with no gender predilection, the peak incidence occurs between 30 and 60 years of age. Although the precise aetiology is unknown, it is often thought to be either autoimmune, viral immune, or neurodegenerative. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant aetiologic factor. | SNOMEDCT_US_2016_09_01:Characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter relaxation in response to deglutition. A rare disease with no gender predilection, the peak incidence occurs between 30 and 60 years of age. Although the precise etiology is unknown, it is often thought to be either autoimmune, viral immune, or neurodegenerative. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant etiologic factor. SNOMEDCT_US_2016_09_01:715192004 C4023153 Impaired thrombin-induced platelet aggregation Impaired thrombin-induced platelet aggregation HPO2016_07_04:Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics). [DDD:wouwehand] HPO2016_07_04:HP:0011872 C0553760 Lumbosacral plexus neuropathy Lumbosacral plexus neuropathy | Lumbosacral plexus neuropathy (disorder) SNOMEDCT_US_2016_09_01:230617009 C3642319 Apical myocardial infarction by ecg finding Apical Myocardial Infarction by ECG Finding | Apical Myocardial Infarction by EKG Finding NCI2016_02D:An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart. C1858114 Huntington disease-like 3 (disorder) HDL3 | HUNTINGTON DISEASE-LIKE 3 | HUNTINGTON DISEASE-LIKE 3 (disorder) | HUNTINGTON DISEASE-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL RECESSIVE | Huntington Disease-Like 3 | Huntington Disease-Like Neurodegenerative Disorder, Autosomal Recessive MSH2017_2016_08_12:C565747|OMIM2016_04_17:604802 C3277723 Joubert syndrome 12 JBTS12 | JOUBERT SYNDROME 12 OMIM2016_04_17:200990|OMIM2016_04_17:611254 C4225274 Au-kline syndrome AU-KLINE SYNDROME | AUKS OMIM2016_04_17:600712|OMIM2016_04_17:616580 C0034072 Cor pulmonale CARDIOPULMONARY DISEASE | COR PULMONALE | Cardiopulmonary Diseases and Syndromes | Cardiopulmonary disease or syndrome | Cor Pulmonale | Cor pulmonale | Cor pulmonale (disorder) | Cor pulmonale NOS | DISEASE HEART PULMONARY | Disease heart pulmonary | Disease, Pulmonary Heart | Disease;heart;pulmonary | Diseases, Pulmonary Heart | HEART DISEASE PULMONARY | Heart Disease, Pulmonary | Heart Diseases, Pulmonary | Heart disease - pulmonary | Heart disease pulmonary | PULMONARY HEART DISEASE | Pulmonary Heart Disease | Pulmonary Heart Disease [Disease/Finding] | Pulmonary Heart Diseases | Pulmonary circulation diseases (& [heart]) | Pulmonary circulation diseases (& [heart]) (disorder) | Pulmonary heart disease | Pulmonary heart disease (disorder) | Pulmonary heart disease NOS | Pulmonary heart disease NOS (disorder) | Pulmonary heart disease, unspecified | Right heart failure due to disorder of lung | Right heart failure due to pulmonary disease | cardiopulmonary disease | cardiopulmonary diseases | cor pulmonale | cor pulmonale (diagnosis) | cor; pulmonale | disease (or disorder); cardiopulmonary | disease (or disorder); heart, pulmonary | disease (or disorder); pulmonary, heart disease | disease heart pulmonary | heart pulmonary disease | pulmonale; cor | pulmonary heart disease | pulmonary heart diseases | pulmonary heart diseases (diagnosis) CSP2006:heart disease due to pulmonary hypertension secondary to disease of the lungs, or its blood vessels, with hypertrophy of the right ventricle. | HPO2016_07_04:Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle. [HPO:probinson] | MSH2017_2016_08_12:Hypertrophy and dilation of the RIGHT VENTRICLE of the heart that is caused by PULMONARY HYPERTENSION. This condition is often associated with pulmonary parenchymal or vascular diseases, such as CHRONIC OBSTRUCTIVE PULMONARY DISEASE and PULMONARY EMBOLISM. HPO2016_07_04:HP:0001648|ICD10CM_2017:I27.81|ICD10CM_2017:I27.9|MSH2017_2016_08_12:D011660|OMIM2016_04_17:MTHU007637|SNOMEDCT_US_2016_09_01:155323004|SNOMEDCT_US_2016_09_01:155329000|SNOMEDCT_US_2016_09_01:194879006|SNOMEDCT_US_2016_09_01:266294009|SNOMEDCT_US_2016_09_01:274096000|SNOMEDCT_US_2016_09_01:286952009|SNOMEDCT_US_2016_09_01:83291003 C0334374 Intracystic papillary adenoma Intracystic Papillary Adenoma | Intracystic Papilloma | Intracystic papillary adenoma | Intracystic papillary adenoma (morphologic abnormality) | Intracystic papilloma NCI2016_02D:A papillary epithelial neoplasm arising in a cystically dilated breast duct. SNOMEDCT_US_2016_09_01:47488001 C0152137 Glaucoma, due to phacolysis Glaucoma, due to phacolysis | Glaucoma, phacolytic | Phacolytic glaucoma | Phacolytic glaucoma (disorder) | glaucoma; phacolytic | phacolytic glaucoma | phacolytic glaucoma (diagnosis) | phacolytic; glaucoma ICD9CM_2014:365.51|SNOMEDCT_US_2016_09_01:32893002 C0796126 Aicardi-goutieres syndrome 1 AGS | AGS1 | AICARDI-GOUTIERES SYNDROME 1 | Aicardi Goutieres syndrome | Aicardi-Goutieres Syndrome 1 | Aicardi-Goutieres syndrome | CREE ENCEPHALITIS | Cree Encephalitis | ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | Encephalopathy with Basal Ganglia Calcification | Familial Infantile Encephalopathy with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis | PSEUDOTOXOPLASMOSIS SYNDROME | Pseudotoxoplasmosis syndrome | microcephaly-chorioretinopathy syndrome | pseudotoxoplasmosis syndrome JABL99:A syndrome of microcephaly, chorioretinopathy, and mental retardation suggesting toxoplasmosis. A similar association exists in the chorioretinal dysplasia-microcephaly-mental retardation syndrome which is transmitted as an autosomal dominant trait. MSH2017_2016_08_12:C535607|OMIM2016_04_17:225750|OMIM2016_04_17:606609 C4225258 Epilepsy, progressive myoclonic, 10 EPILEPSY, PROGRESSIVE MYOCLONIC, 10 | EPM10 OMIM2016_04_17:616640 C1858995 Decreased serum progesterone Decreased serum progesterone HPO2016_07_04:HP:0008233|OMIM2016_04_17:MTHU004977 C0012922 Dna infection virus DNA Virus Infection | DNA Virus Infections | DNA Virus Infections [Disease/Finding] | Infection, DNA Virus | Infections, DNA Virus | Virus Infection, DNA | Virus Infections, DNA | dna infection virus | dna virus infections | virus dna infections MSH2017_2016_08_12:Diseases caused by DNA VIRUSES. MSH2017_2016_08_12:D004266 C1859877 Alopecia universalis congenita ALOPECIA UNIVERSALIS CONGENITA | ALUNC | ATRICHIA, GENERALIZED | Alopecia universalis congenita MSH2017_2016_08_12:C537055|OMIM2016_04_17:203655|OMIM2016_04_17:602302 C2936881 Eosinophilic synovitis Eosinophilic synovitis | Idiopathic eosinophilic synovitis | Shulman syndrome MSH2017_2016_08_12:C535954 C1333453 Esophageal kaposi sarcoma Esophageal Kaposi Sarcoma | Esophageal Kaposi's Sarcoma | Esophagus Kaposi's Sarcoma | Kaposi's Sarcoma of Esophagus | Kaposi's Sarcoma of the Esophagus | Kaposi's sarcoma of esophagus | Kaposi's sarcoma of esophagus (diagnosis) NCI2016_02D:A Kaposi sarcoma arising from the esophagus. C1859535 Bare lymphocyte syndrome, type ii, complementation group b BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B | Bare Lymphocyte Syndrome, Type II, Complementation Group B MSH2017_2016_08_12:C565910|OMIM2016_04_17:209920|OMIM2016_04_17:603200 C1849146 Loss of purkinje cells in the cerebellar vermis Loss of Purkinje cells in the cerebellar vermis HPO2016_07_04:HP:0007001|OMIM2016_04_17:MTHU009394 C0571941 Lisinopril allergy LISINOPRIL ALLERGY | Lisinopril allergy | Lisinopril allergy (disorder) SNOMEDCT_US_2016_09_01:295038004 C0338478 Cryptogenic myoclonic epilepsies Cryptogenic Myoclonic Epilepsies | Cryptogenic Myoclonic Epilepsy | Cryptogenic myoclonic epilepsy | Cryptogenic myoclonic epilepsy (disorder) | Epilepsies, Cryptogenic Myoclonic | Epilepsies, Idiopathic Myoclonic | Epilepsy, Cryptogenic Myoclonic | Epilepsy, Idiopathic Myoclonic | Idiopathic Myoclonic Epilepsies | Idiopathic Myoclonic Epilepsy | Idiopathic myoclonic epilepsy | Idiopathic myoclonic epilepsy (disorder) | Myoclonic Epilepsies, Cryptogenic | Myoclonic Epilepsies, Idiopathic | Myoclonic Epilepsy, Cryptogenic | Myoclonic Epilepsy, Idiopathic MSH2017_2016_08_12:D004831|SNOMEDCT_US_2016_09_01:230427007|SNOMEDCT_US_2016_09_01:230428002 C1866234 Protruding lower lip Protruding lower lip HPO2016_07_04:HP:0000232|OMIM2016_04_17:MTHU005788 C0152268 Hodgkin's disease, nodular sclerosis (clinical) Classical Hodgkin lymphoma, nodular sclerosis | Hodgkin disease, nodular sclerosis | Hodgkin lymphoma, nodular sclerosis | Hodgkin lymphoma, nodular sclerosis (morphologic abnormality) | Hodgkin's Nodular Sclerosis | Hodgkin's disease nodular sclerosis | Hodgkin's disease nodular sclerosis NOS | Hodgkin's disease nodular sclerosis stage unspecified | Hodgkin's disease with nodular sclerosis | Hodgkin's disease, nodular sclerosis | Hodgkin's disease, nodular sclerosis (clinical) | Hodgkin's disease, nodular sclerosis (disorder) | Hodgkin's disease, nodular sclerosis NOS | Hodgkin's disease, nodular sclerosis NOS (disorder) | Hodgkin's disease, nodular sclerosis of unspecified site | Hodgkin's disease, nodular sclerosis of unspecified site (disorder) | Hodgkin's disease, nodular sclerosis, NOS | Hodgkin's nod.scl. unspec site | Hodgkin's nodular scler. NOS | Hodgkin's,nodular scler.NOS | Hodgkin; nodular sclerosis | LYMPHOMA HODGKIN NODULAR SCLEROSIS | NSCHL | NSHD | NSHL | Nodular Sclerosis Classical Hodgkin Lymphoma | Nodular Sclerosis Hodgkin Lymphoma | Nodular Sclerosis Hodgkin's Disease | Nodular Sclerosis Hodgkin's Lymphoma | Nodular sclerosis | Nodular sclerosis Hodgkin lymphoma | Nodular sclerosis classical Hodgkin lymphoma | [M]Hodgkin's disease, nodular sclerosis NOS | [M]Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality) | [M]Hodgkin's,nodular scler.NOS | disease; Hodgkin's, nodular sclerosis | nodular sclerosing Hodgkin's disease | nodular sclerosing Hodgkin's disease (diagnosis) | nodular sclerosis NCI2016_02D:A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008) ICD10CM_2017:C81.1|ICD9CM_2014:201.5|SNOMEDCT_US_2016_09_01:118608000|SNOMEDCT_US_2016_09_01:134178004|SNOMEDCT_US_2016_09_01:188564003|SNOMEDCT_US_2016_09_01:188573006|SNOMEDCT_US_2016_09_01:52248008 C3810127 Immunodeficiency 18 CD3-EPSILON DEFICIENCY | IMD18 | IMMUNODEFICIENCY 18 OMIM2016_04_17:186830|OMIM2016_04_17:615615 C0158651 Complete unilateral cleft lip Cleft lip, unilateral, complete | Complete unilateral cleft lip | Complete unilateral cleft lip (disorder) | Unilateral complete cleft lip | Unilateral complete cleft lip (situation) | complete unilateral cleft lip | complete unilateral cleft lip (diagnosis) ICD9CM_2014:749.11|SNOMEDCT_US_2016_09_01:62696001 C0521517 Primary fibromyalgia syndrome Primary fibromyalgia syndrome | Primary fibromyalgia syndrome (disorder) SNOMEDCT_US_2016_09_01:95417003 C0333300 Phagedaena Phagedaena | Phagedaena [D] | Phagedaenic ulcer | Phagedena | Phagedena [D] | Phagedena [D] (context-dependent category) | Phagedena [D] (situation) | Phagedenic ulcer | Phagedenic ulcer (morphologic abnormality) | Ulcer, phagedenic | [D]Phagedaena | [D]Phagedena | [D]Phagedena (context-dependent category) | [D]Phagedena (situation) | phagedena | phagedena (diagnosis) SNOMEDCT_US_2016_09_01:158351007|SNOMEDCT_US_2016_09_01:207021001|SNOMEDCT_US_2016_09_01:274251002|SNOMEDCT_US_2016_09_01:85982009 C0243026 Sepsis Generalized infection | INFECTION SYSTEMIC | Infection systemic | Infection, systemic | Infectious systemic inflammatory response syndrome | Infectious systemic inflammatory response syndrome (disorder) | SEPSIS | Sepsis | Sepsis (disorder) | Sepsis NOS | Sepsis [Disease/Finding] | Sepsis, NOS | Septicemia | Systemic infection | Systemic infection (disorder) | Systemic infection, NOS | Systemic infections | Systemic infectious disease | generalized infection | generalized; infection | infection; generalized | sepsis | systemic infection CHV2011_02:systematic infection | MEDLINEPLUS_20151021:Sepsis is a serious illness. It happens when your body has an overwhelming immune response to a bacterial infection. The chemicals released into the blood to fight the infection trigger widespread inflammation. This leads to blood clots and leaky blood vessels. They cause poor blood flow, which deprives your body's organs of nutrients and oxygen. In severe cases, one or more organs fail. In the worst cases, blood pressure drops and the heart weakens, leading to septic shock.
Anyone can get sepsis, but the risk is higher in
Common symptoms of sepsis are fever, chills, rapid breathing and heart rate, rash, confusion, and disorientation. Doctors diagnose sepsis using a blood test to see if the number of white blood cells is abnormal. They also do lab tests that check for signs of infection.
People with sepsis are usually treated in hospital intensive care units. Doctors try to treat the infection, sustain the vital organs, and prevent a drop in blood pressure. Many patients receive oxygen and intravenous fluids. Other types of treatment, such as respirators or kidney dialysis, may be necessary. Sometimes, surgery is needed to clear up an infection.
NIH: National Institute of Genera | MSH2017_2016_08_12:Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK. ICD9CM_2014:995.91|MSH2017_2016_08_12:D018805|OMIM2016_04_17:MTHU010579|SNOMEDCT_US_2016_09_01:186392004|SNOMEDCT_US_2016_09_01:445101001|SNOMEDCT_US_2016_09_01:91302008 C0344502 Blepharophimosis, congenital Blepharophimosis congenital | Blepharophimosis, congenital | Congenital blepharophimosis | Congenital blepharophimosis (disorder) | blepharophimosis; congenital | congenital; blepharophimosis SNOMEDCT_US_2016_09_01:A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi ICD10CM_2017:Q10.3|SNOMEDCT_US_2016_09_01:93040009 C0043195 Subsepsis hyperergia syndrome Subsepsis Allergica | Subsepsis Hyperergica | Subsepsis hyperergia | Subsepsis hyperergia syndrome | Syndrome, Wissler's | Syndrome, Wissler-Fanconi | Wissler Fanconi Syndrome | Wissler Syndrome | Wissler syndrome | Wissler's Syndrome | Wissler's Syndrome [Disease/Finding] | Wissler's syndrome | Wissler-Fanconi Syndrome | Wissler-Fanconi syndrome | Wissler-Fanconi syndrome (disorder) | Wissler-Fanconi syndrome (finding) | Wisslers Syndrome MSH2017_2016_08_12:A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate. MSH2017_2016_08_12:D014924|SNOMEDCT_US_2016_09_01:68190001 C4022125 Aplasia of the phalanges of the 3rd toe Absent digital bone of the 3rd toe | Aplasia of the phalanges of the 3rd toe HPO2016_07_04:HP:0100362 C0751101 Post-vaccinal encephalitis Encephalitides, Post-Vaccinal | Encephalitis following immunisation procedures | Encephalitis following immunization procedures | Encephalitis, Post Vaccinal | Encephalitis, Post-Vaccinal | Encephalitis, Postvaccinal | Encephalitis, Vaccination | Encephalomyelitides, Post-Vaccinal | Encephalomyelitis, Post-Vaccinal | Encephalomyelitis, post immunization | POSTVACCINAL ENCEPHALOMYELITIS | Post Vaccinal Encephalitis | Post Vaccinal Encephalomyelitis | Post-Vaccinal Encephalitides | Post-Vaccinal Encephalitis | Post-Vaccinal Encephalomyelitides | Post-Vaccinal Encephalomyelitis | Post-immunisation encephalomyelitis | Post-immunization encephalomyelitis | Postvaccinal Encephalitis | Postvaccinal encephalitis | Postvaccinal encephalomyelitis | Postvaccinal encephalomyelitis (disorder) | Vaccination Encephalitis ICD10CM_2017:G04.02|MSH2017_2016_08_12:D004673|SNOMEDCT_US_2016_09_01:31367003 C3539494 Spastic paraplegia 53, autosomal recessive SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE | SPG53 OMIM2016_04_17:609927|OMIM2016_04_17:614898 C0334041 Osteoma cutis Cutaneous Ossification | Cutaneous ossification | ECTOPIC OSSIFICATION, FAMILIAL | Ectopic Ossification, Familial | OSSEOUS HETEROPLASIA, PROGRESSIVE | OSTEOMA CUTIS | Osseous Heteroplasia, Progressive | Osteodermia | Osteoma Cutis | Osteoma cutis | Osteoma cutis (disorder) | Osteoma cutis (morphologic abnormality) | Osteoma cutis (morphologic abnormality, calcified structure) (morphologic abnormality) | Osteosis Cutis | Osteosis cutis | POH | Progressive Osseous Heteroplasia | osteodermia | osteoma cutis | osteosis cutis MSH2017_2016_08_12:C562735|OMIM2016_04_17:139320|OMIM2016_04_17:166350|SNOMEDCT_US_2016_09_01:404074003|SNOMEDCT_US_2016_09_01:71304002 C0019364 Herpes zoster ophthalmicus HERPES ZOSTER OPHTHALMICUS | Herpes Zoster Ophthalmicus | Herpes Zoster Ophthalmicus [Disease/Finding] | Herpes Zoster, Ocular | Herpes zoster ophthalmic | Herpes zoster ophthalmicus | Herpes zoster ophthalmicus (disorder) | Herpes zoster with ophthalmic complication | Herpes zoster with ophthalmic complication (disorder) | Herpes zoster with ophthalmic complications | Herpes zoster+ophthalmic comp. | Ocular Herpes Zoster | Ocular herpes zoster | Ophthalmic herpes zoster | Ophthalmic herpes zoster infection | Ophthalmic herpes zoster infection (disorder) | Ophthalmic zoster | Zoster ocular disease | Zoster ocular disease, unspecified | Zoster ophthalmicus | herpes zoster ophthalmic | herpes zoster ophthalmicus | herpes zoster with ophthalmic complications | herpes zoster with ophthalmic complications (diagnosis) | herpes zoster, ophthalmicus | herpes; eye (h.zoster) (etiology) | herpes; ophthalmicus (h.zoster) (etiology) | herpes; zoster, eye (etiology) | herpes; zoster, eye (manifestation) | ocular herpes zoster | ophthalmic herpes zoster | ophthalmic zoster | ophthalmicus herpes zoster | zoster ophthalmic | zoster ophthalmicus | zoster; herpes, eye (etiology) | zoster; herpes, eye (manifestation) MSH2017_2016_08_12:Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve. ICD10CM_2017:B02.3|ICD10CM_2017:B02.30|ICD9CM_2014:053.2|MSH2017_2016_08_12:D006563|SNOMEDCT_US_2016_09_01:154328001|SNOMEDCT_US_2016_09_01:186524006|SNOMEDCT_US_2016_09_01:186526008|SNOMEDCT_US_2016_09_01:87513003 C0004444 Avoidant disorder personality Avoidant Personality Disorder | Avoidant Personality Disorders | Avoidant personality | Avoidant personality disorder | Avoidant personality disorder (disorder) | Personality Disorder, Avoidant | Personality Disorders, Avoidant | avoidant disorder personality | avoidant disorders personality | avoidant personality | avoidant personality disorder | avoidant personality disorder (diagnosis) | avoidant personality disorders | avoidant; personality disorder | personality avoidant disorder | personality disorder; avoidant NCI2016_02D:A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection. | PSY2004:Personality disorder characterized by excessive social discomfort, extreme sensitivity to negative perceptions of oneself, pervasive preoccupation with being criticized or rejected in social situations, and low self esteem. ICD10CM_2017:F60.6|ICD9CM_2014:301.82|MSH2017_2016_08_12:D010554|OMIM2016_04_17:MTHU000963|SNOMEDCT_US_2016_09_01:191771004|SNOMEDCT_US_2016_09_01:37746008 C2751601 Basal cell carcinoma, susceptibility to, 5 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 5 | BCC5 OMIM2016_04_17:613062 C0432284 Infantile myofibromatosis CGF | Congenital generalised fibromatosis | Congenital generalized fibromatosis | FIBROMATOSIS, CONGENITAL GENERALIZED | Fibromatosis, Congenital Generalized | Generalized congenital fibromatosis | IMF1 | Infantile myofibromatosis | Infantile myofibromatosis (disorder) | Juvenile fibromatosis | MYOFIBROMATOSIS, INFANTILE, 1 | MYOFIBROMATOSIS, JUVENILE | Myofibromatosis, Infantile | Myofibromatosis, Juvenile | infantile myofibromatosis | infantile myofibromatosis (diagnosis) MSH2017_2016_08_12:C562978|OMIM2016_04_17:173410|OMIM2016_04_17:228550|SNOMEDCT_US_2016_09_01:253043004|SNOMEDCT_US_2016_09_01:254146000|SNOMEDCT_US_2016_09_01:403410004|SNOMEDCT_US_2016_09_01:73767002 C2750067 Plasminogen activator inhibitor-1 deficiency HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY | Hyperfibrinolysis Due To Pai1 Deficiency | PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY | Plasminogen Activator Inhibitor-1 Deficiency MSH2017_2016_08_12:C567640|OMIM2016_04_17:173360|OMIM2016_04_17:613329 C0347139 Carcinoma in situ of skin of ear and external auricular canal Ca-in-situ ear/ext auric canal | Carcinoma in situ of ear | Carcinoma in situ of ear (disorder) | Carcinoma in situ of skin of ear and external auditory canal | Carcinoma in situ of skin of ear and external auricular canal | Carcinoma in situ skin of ear and external auricular canal | carcinoma in situ of skin of external ear | carcinoma in situ of the skin of the ear and the external auditory canal | carcinoma in situ of the skin of the ear and the external auditory canal (diagnosis) ICD10CM_2017:D04.2|ICD9CM_2014:232.2|SNOMEDCT_US_2016_09_01:189278008|SNOMEDCT_US_2016_09_01:255144005 C4225270 Kosaki overgrowth syndrome KOGS | KOSAKI OVERGROWTH SYNDROME | SKELETAL OVERGROWTH WITH FACIAL DYSMORPHISM, HYPERELASTIC SKIN, WHITE MATTER LESIONS, AND NEUROLOGIC DETERIORATION OMIM2016_04_17:173410|OMIM2016_04_17:616592 C1838346 Bor duane hydrocephalus contiguous gene syndrome BOR-DUANE HYDROCEPHALUS CONTIGUOUS GENE SYNDROME | Bor-Duane hydrocephalus contiguous gene syndrome | Branchio-Oto-Renal Duane hydrocephalus contiguous gene syndrome | CHROMOSOME 8q12.1-q21.2 DELETION SYNDROME MSH2017_2016_08_12:C536574|OMIM2016_04_17:600257 C0236791 Childhood disintegrative disorder CDD - Childhood disintegrative disorder | Childhood Disintegrative Disorder | Childhood disintegrative disorder | Childhood disintegrative disorder (disorder) | Dementia infantalis | Dementia infantilis | Disintegrative psychosis | Disintegrative psychosis NOS | Disintegrative psychosis NOS (disorder) | Heller's syndrome | Psychosis disintegrative | [X] Dementia infantalis | [X] Heller's syndrome | [X]Dementia infantalis | [X]Disintegrative psychosis | [X]Heller's syndrome | [X]Symbiotic psychosis | childhood disintegrative disorder | childhood disintegrative disorder (diagnosis) | disintegrative psychosis | disintegrative psychosis; childhood | disintegrative; psychosis | heller's syndrome | psychosis; disintegrative NCI2016_02D:A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism. | NCI2016_NICHD_1602D:A neurodevelopmental disorder that presents between the ages of two and ten, and is characterized by severe regression of communication, social interactions, bowel or bladder control, and/or motor skills that has previously developed normally. ICD10CM_2017:F84.3|ICD9CM_2014:299.1|SNOMEDCT_US_2016_09_01:191694008|SNOMEDCT_US_2016_09_01:192584009|SNOMEDCT_US_2016_09_01:71961003 C1261382 Psychodynamic psychotherapy Explorative psychotherapy | Psychodynamic Psychotherapies | Psychodynamic Psychotherapy | Psychodynamic psychotherapy | Psychodynamic psychotherapy (procedure) | Psychodynamic psychotherapy (regime/therapy) | Psychotherapies, Psychodynamic | Psychotherapy - psychodynamic | Psychotherapy - psychodynamic (procedure) | Psychotherapy - psychodynamic (regime/therapy) | Psychotherapy, Psychodynamic | psychodynamic psychotherapy MSH2017_2016_08_12:Forms of PSYCHOTHERAPY falling within or deriving from the psychoanalytic tradition, that view individuals as reacting to unconscious forces (e.g., motivation, drive), that focus on processes of change and development, and that place a premium on self understanding and making meaning of what is unconscious. | PSY2004:An approach to psychotherapy that emphasizes inner conflict and ongoing intense psychological processes within the individual. Therapy is generally not as lengthy or intensive as psychoanalysis. MSH2017_2016_08_12:D064889|SNOMEDCT_US_2016_09_01:151619006|SNOMEDCT_US_2016_09_01:183384002|SNOMEDCT_US_2016_09_01:302235004|SNOMEDCT_US_2016_09_01:314034001 C0009792 Consciousness disorder Consciousness Disorder | Consciousness Disorders | Consciousness Disorders [Disease/Finding] | disorders of consciousness | disorders of consciousness (diagnosis) MSH2017_2016_08_12:Organic mental disorders in which there is impairment of the ability to maintain awareness of self and environment and to respond to environmental stimuli. Dysfunction of the cerebral hemispheres or brain stem RETICULAR FORMATION may result in this condition. MSH2017_2016_08_12:D003244 C4280875 Intractable menstrual status migrainosus Intractable menstrual status migrainosus | Intractable menstrual status migrainosus (disorder) SNOMEDCT_US_2016_09_01:124091000119105 C0751124 Epilepsy, absence, atypical Atypical absence epilepsy | Atypical absence epilepsy (disorder) | Epilepsy, Absence, Atypical MSH2017_2016_08_12:D004832|SNOMEDCT_US_2016_09_01:187931000119106 C0020120 Engineering humans Engineering, Human | Engineering, Human Factors | Engineerings, Human Factors | Factors Engineering, Human | Factors Engineerings, Human | Human Engineering | Human Factors Engineering | Human Factors Engineerings | Human Factors and Ergonomics | Human engineering | engineering humans | human engineering MSH2017_2016_08_12:The science of designing, building or equipping mechanical devices or artificial environments to the anthropometric, physiological, or psychological requirements of the people who will use them. MSH2017_2016_08_12:D006804 C1850184 Osteogenesis imperfecta congenita, microcephaly, and cataracts OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS | Osteogenesis imperfecta congenita, microcephaly, and cataracts MSH2017_2016_08_12:C537558|OMIM2016_04_17:259410 C2931074 Cone rod dystrophy amelogenesis imperfecta Cone rod dystrophy amelogenesis imperfecta MSH2017_2016_08_12:C535976 C3898888 Bclc staging for hepatocellular carcinoma BCLC Staging for Hepatocellular Carcinoma | Barcelona Clinic Liver Cancer Staging for Hepatocellular Carcinoma | Hepatocellular Carcinoma BCLC Staging | Hepatocellular Carcinoma Barcelona Clinic Liver Cancer Staging | Hepatocellular Carcinoma by BCLC Stage | Hepatocellular Carcinoma by Barcelona Clinic Liver Cancer Stage NCI2016_02D:A staging classification system for hepatocellular carcinoma that uses variables related to tumor stage, liver functional status, physical status, and cancer-related symptoms, and links the stages with a treatment algorithm. (HPB (Oxford) 2005; 7(1):35-41) C1335503 Adenosquamous carcinoma of prostate Adenosquamous Carcinoma of Prostate | Adenosquamous Carcinoma of the Prostate | Prostate Adenosquamous Carcinoma NCI2016_02D:An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones. C1335305 Intraductal papillary-mucinous neoplasm of pancreas with moderate dysplasia Intraductal Papillary-Mucinous Neoplasm of Pancreas with Moderate Dysplasia | Intraductal Papillary-Mucinous Neoplasm of the Pancreas with Moderate Dysplasia | Intraductal Papillary-Mucinous Tumor of Pancreas with Moderate Dysplasia | Intraductal Papillary-Mucinous Tumor of the Pancreas with Moderate Dysplasia | Pancreatic Borderline Intraductal Papillary-Mucinous Neoplasm | Pancreatic Intraductal Papillary Mucinous Neoplasm with Intermediate Grade Dysplasia | Pancreatic Intraductal Papillary-Mucinous Neoplasm with Intermediate Grade Dysplasia | Pancreatic Intraductal Papillary-Mucinous Neoplasm with Moderate Dysplasia | Pancreatic Intraductal Papillary-Mucinous Tumor with Moderate Dysplasia | intraductal papillary-mucinous neoplasm of pancreas with moderate dysplasia | intraductal papillary-mucinous neoplasm of pancreas with moderate dysplasia (diagnosis) | pancreatic intraductal papillary mucinous neoplasm with moderate dysplasia NCI2016_02D:A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit nuclear stratification, loss of polarity, and crowding. There is moderate nuclear hyperchromasia. C0266357 Persistent umbilical sinus Patent Urachus | Patent of urachus | Patent urachal duct | Patent urachus | Patent urachus (disorder) | Patent urachus -RETIRED- | Persistent umbilical sinus | Persistent umbilical sinus (disorder) | Persistent urachus | Urachus: [patent] or [persistent] | Urachus: [patent] or [persistent] (disorder) | patent urachus | patent urachus (diagnosis) | persistent; urachus | urachus patent | urachus; patent or persistent | urachus; persistent HPO2016_07_04:Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus. [HPO:probinson] | NCI2016_02D:A congenital abnormality that results from the failure of the lumen of urachus to be obliterated. It presents with leakage of urine from the bladder through the umbilicus. | NCI2016_NICHD_1602D:A persistent opening between the bladder and the umbilicus through the urachus. HPO2016_07_04:HP:0010479|ICD10CM_2017:Q64.4|OMIM2016_04_17:MTHU015113|SNOMEDCT_US_2016_09_01:123282008|SNOMEDCT_US_2016_09_01:205018004|SNOMEDCT_US_2016_09_01:253898008|SNOMEDCT_US_2016_09_01:34351008|SNOMEDCT_US_2016_09_01:398316009 C1961099 Precursor t-cell lymphoblastic leukemia-lymphoma Acute T Cell Leukemia | Acute T Cell Lymphoblastic Leukemia | Acute T Cell Lymphocytic Leukemia | Acute T-Cell Leukemia | Acute T-Cell Leukemias | Acute T-Cell Lymphoblastic Leukemia | Acute T-Cell Lymphocytic Leukemia | Acute T-Lymphocytic Leukemia | Acute T-Lymphocytic Leukemias | Acute T-cell lymphoblastic leukaemia | Acute T-cell lymphoblastic leukemia | Cortical T ALL | Leukemia, Acute T-Cell | Leukemia, Acute T-Lymphocytic | Leukemia, Lymphoblastic, Acute, T Cell | Leukemia, Lymphoblastic, Acute, T-Cell | Leukemia, Lymphocytic, Acute T Cell | Leukemia, Lymphocytic, Acute, T-Cell | Leukemia, T-Cell, Acute | Leukemias, Acute T-Cell | Leukemias, Acute T-Lymphocytic | Lymphoblastic Leukemia, Acute, T Cell | Lymphoblastic Leukemia, Acute, T-Cell | Lymphocytic Leukemia, T Cell, Acute | Lymphocytic Leukemia, T-Cell, Acute | Pre T-ALL | Pre-T ALL | Precursor T Cell Lymphoblastic Leukemia | Precursor T Cell Lymphoblastic Leukemia Lymphoma | Precursor T Cell Lymphoblastic Lymphoma | Precursor T-Cell Lymphoblastic Leukemia | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [Disease/Finding] | Precursor T-Cell Lymphoblastic Lymphoma | Precursor T-Lymphoblastic Leukemia | Precursor T-cell lymphoblastic leukaemia | Precursor T-cell lymphoblastic leukemia | Precursor T-cell lymphoblastic leukemia (morphologic abnormality) | Precursor T-lymphoblastic leukemia (T-cell ALL) | Pro-T ALL | T Acute Lymphoblastic Leukemia | T Cell Leukemia, Acute | T Lymphocytic Leukemia, Acute | T-ALL | T-Cell Acute Lymphoblastic Leukemia | T-Cell Acute Lymphocytic Leukemia | T-Cell Leukemia, Acute | T-Cell Leukemias, Acute | T-Cell Type Acute Leukemia | T-Lymphocytic Leukemia, Acute | T-Lymphocytic Leukemias, Acute | T-cell ALL | T-cell acute lymphoblastic leukaemia | T-cell acute lymphoblastic leukemia | T-cell acute lymphoblastic leukemia (diagnosis) | T-cell acute lymphoblastic leukemia (disorder) | T-cell acute lymphoblastic leukemias | T-cell acute lymphocytic leukemia | T-cell lymphoblastic leukaemia acute | T-cell lymphoblastic leukemia acute | T-cell type acute leukaemia | T-cell type acute leukemia | acute T cell leukemia | leukemia lymphocytic acute (all) t-cell lymphoblastic | leukemia precursor cell lymphoblastic T-cell | precursor T-cell lymphoblastic leukemia | precursor T-cell lymphoblastic leukemia (diagnosis) | precursor T-lymphoblastic leukemia MSH2017_2016_08_12:A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common. | NCI2016_02D:Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001) | NCI2016_NCI-GLOSS_1602D:An aggressive (fast-growing) type of leukemia (blood cancer) in which too many T-cell lymphoblasts (immature white blood cells) are found in the bone marrow and blood. HPO2016_07_04:HP:0006727|MSH2017_2016_08_12:D054218|SNOMEDCT_US_2016_09_01:128824003|SNOMEDCT_US_2016_09_01:277575008 C0686721 Babies shaken Shaken Baby Syndrome | Shaken Baby Syndrome [Disease/Finding] | Shaken baby | Shaken baby syndrome | Shaken baby syndrome (finding) | Shaken baby syndrome - non-accidental injury | Shaken infant syndrome | babies shaken | babies shaken syndrome | baby shaken | baby shaken syndrome | shaken baby | shaken baby syndrome | shaken infant syndrome | shaken infant syndrome (diagnosis) MSH2017_2016_08_12:Brain injuries resulted from vigorous shaking of an infant or young child held by the chest, shoulders, or extremities causing extreme cranial acceleration. It is characterized by the intracranial and intraocular hemorrhages with no evident external trauma. Serious cases may result in death. ICD10CM_2017:T74.4|ICD9CM_2014:995.55|MSH2017_2016_08_12:D038642|SNOMEDCT_US_2016_09_01:102458000|SNOMEDCT_US_2016_09_01:68150004 C0237750 Social norm Norm, Social | Norm, Societal | Norms (Social) | Norms, Social | Norms, Societal | Social Norm | Social Norms | Societal Norm | Societal Norms | social norm | social norms MSH2017_2016_08_12:Customary standards that govern behavior in groups, cultures, or societies. They reflect what a group deems acceptable in a social context in terms of appropriate and inappropriate values, beliefs, attitudes, and behaviors. | PSY2004:Rules for social conduct, or standards which comprise a cultural definition of desirable or acceptable behavior. Also, patterns or traits seen as typical in the behavior of a social group. MSH2017_2016_08_12:D066262 C0264856 Myocarditis, giant cell Giant Cell Myocarditis | Giant cell myocarditis | Giant cell myocarditis (disorder) | Myocarditis, giant cell NCI2016_02D:An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available. ICD10CM_2017:I40.1|SNOMEDCT_US_2016_09_01:194954007|SNOMEDCT_US_2016_09_01:60812006 C0375071 Malignant neoplasm of vulva Ca vulva | Cancer of Vulva | Cancer of the Vulva | Cancer of vulva | Cancer, Vulva | Cancer, Vulvar | Cancers, Vulva | Cancers, Vulvar | Malig neop vulva unspecified | Malignant Neoplasm of Vulva | Malignant Neoplasm of the Vulva | Malignant Tumor of Vulva | Malignant Tumor of the Vulva | Malignant Vulva Neoplasm | Malignant Vulva Tumor | Malignant Vulvar Neoplasm | Malignant Vulvar Tumor | Malignant neoplasm of vulva | Malignant neoplasm of vulva unspecified | Malignant neoplasm of vulva unspecified (disorder) | Malignant neoplasm of vulva, NOS | Malignant neoplasm of vulva, unspecified | Malignant neoplasm of vulva, unspecified site | Malignant tumor of vulva | Malignant tumor of vulva (disorder) | Malignant tumour of vulva | VULVAR CANCER | Vulva Cancer | Vulva Cancers | Vulva--Cancer | Vulval Ca | Vulval cancer | Vulval cancer NOS | Vulvar Cancer | Vulvar Cancers | Vulvar cancer | cancer of the vulva | cancer of vulva | cancer vulva | cancer vulvar | malignant neoplasm of vulva | malignant neoplasm of vulva (diagnosis) | malignant vulvar neoplasm | of vulva cancer | vulva cancer | vulval cancer | vulvar cancer | vulvar neoplasm malignant MEDLINEPLUS_20151021:
Vulvar cancer is a rare type of cancer. It forms in a woman's external genitals, called the vulva. The cancer usually grows slowly over several years. First, precancerous cells grow on vulvar skin. This is called vulvar intraepithelial neoplasia (VIN), or dysplasia. Not all VIN cases turn into cancer, but it is best to treat it early.
Often, vulvar cancer doesn't cause symptoms at first. However, see your doctor for testing if you notice
You are at greater risk if you've had a human papillomavirus (HPV) infection or have a history of genital warts. Your health care provider diagnoses vulvar cancer with a physica1 exam and a biopsy. Treatment varies, depending on your overall health and how advanced the cancer is. It might include surgery, radiation therapy, chemotherapy, or biologic therapy. Biologic therapy boosts your body's own ability to fight cancer.
NIH: National Cancer Institute
| NCI2016_02D:A primary or metastatic malignant neoplasm involving the vulva. ICD10CM_2017:C51|ICD10CM_2017:C51.9|ICD9CM_2014:184.4|MSH2017_2016_08_12:D014846|SNOMEDCT_US_2016_09_01:154535008|SNOMEDCT_US_2016_09_01:188214009|SNOMEDCT_US_2016_09_01:269471005|SNOMEDCT_US_2016_09_01:269604005|SNOMEDCT_US_2016_09_01:363367000|SNOMEDCT_US_2016_09_01:94143002 C0028271 Noma Acute gangrenous stomatitis | Cancrum Oris | Cancrum oris | Cancrum oris (disorder) | Gangrenous Stomatitides | Gangrenous Stomatitis | Gangrenous stomatitis | Gangrenous stomatitis (disorder) | NOMA | Noma | Noma (& [cancrum oris] or [gangrenous stomatitis]) | Noma (& [cancrum oris] or [gangrenous stomatitis]) (disorder) | Noma [Disease/Finding] | Nomas | Stomatitides, Gangrenous | Stomatitis, Gangrenous | cancrum oris | cancrum oris (diagnosis) | gangrenous stomatitis | gangrenous stomatitis (diagnosis) | gangrenous; stomatitis | noma | nomas | stomatitis; gangrenous MSH2017_2016_08_12:A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed) | NCI2016_02D:Gangrene of the mucous membranes of the mouth leading to ulcers and destruction of the soft tissues of the face and bones. It usually occurs in malnourished children in areas of poor sanitation and immunocompromised patients. ICD10CM_2017:A69.0|ICD9CM_2014:528.1|MSH2017_2016_08_12:D009625|SNOMEDCT_US_2016_09_01:18116006|SNOMEDCT_US_2016_09_01:196528007|SNOMEDCT_US_2016_09_01:266427007|SNOMEDCT_US_2016_09_01:399050001 C1837081 Tibial bowing Bowed shankbone | Bowed shinbone | Bowed tibia | Bowed tibiae | Bowing of the tibia | Bowing of tibia | Tibial bowing HPO2016_07_04:A bending or abnormal curvature of the tibia. [HPO:probinson] HPO2016_07_04:HP:0002982|OMIM2016_04_17:MTHU001501|OMIM2016_04_17:MTHU007332|OMIM2016_04_17:MTHU014114|OMIM2016_04_17:MTHU020661|OMIM2016_04_17:MTHU053288 C1837078 Hypoplastic inferior ilia Hypoplastic inferior ilia HPO2016_07_04:HP:0008821|OMIM2016_04_17:MTHU001497 C1257877 Pheochromocytoma, extra-adrenal Extra-Adrenal Chromaffin Neoplasm | Extra-Adrenal Chromaffinoma | Extra-Adrenal Pheochromocytoma | Extra-Adrenal Pheochromocytomas | Extra-Adrenal Sympathetic Paraganglioma | Extra-Adrenal Sympathetic Paraganglionic Neoplasm | Extraadrenal Pheochromocytoma | Extraadrenal pheochromocytoma | Pheochromocytoma, Extra Adrenal | Pheochromocytoma, Extra-Adrenal | Pheochromocytoma, extraadrenal | Pheochromocytomas, Extra-Adrenal | extra adrenal pheochromocytoma | extra-adrenal pheochromocytoma HPO2016_07_04:Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia. [HPO:probinson] | NCI2016_02D:A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas. HPO2016_07_04:HP:0006737|MSH2017_2016_08_12:D010673|OMIM2016_04_17:MTHU004455 C1848920 Gm2-ganglioside accumulation GM2-ganglioside accumulation | Gm2-ganglioside accumulation HPO2016_07_04:HP:0003495|OMIM2016_04_17:MTHU009170 C0079840 Milk allergy Allergies, Milk | Allergy, Milk | FOOD ALLERGY TO MILK | FOOD ALLERGY TO MILK PRODUCT | Hypersensitivities, Milk | Hypersensitivity, Milk | Milk Allergies | Milk Allergy | Milk Hypersensitivities | Milk Hypersensitivity | Milk Hypersensitivity [Disease/Finding] | Milk allergy | allergies food milk | allergies milk | allergy milk | allergy to milk | allergy to milk (history) | milk allergies | milk allergy | milk food allergy | milk hypersensitivity MSH2017_2016_08_12:Allergic reaction to milk (usually cow's milk) or milk products. MILK HYPERSENSITIVITY should be differentiated from LACTOSE INTOLERANCE, an intolerance to milk as a result of congenital deficiency of lactase. MSH2017_2016_08_12:D016269 C2673377 Mucolipidosis ii alpha/beta (disorder) ML II ALPHA/BETA | MUCOLIPIDOSIS II ALPHA/BETA | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | Mucolipidosis II Alpha Beta MSH2017_2016_08_12:C567100|OMIM2016_04_17:252500|OMIM2016_04_17:607840 C0339759 Ear external acute infection Acute infective otitis externa | Acute infective otitis externa (disorder) | Acute infective otitis externa NOS | EAR EXTERNAL ACUTE INFECTION | Swimmer's ear | Swimmer's ear, unspecified ear | acute infection of external ear | acute infection of external ear (diagnosis) | acute infective otitis externa | acute infective otitis externa (diagnosis) | acute swimmer's ear | swimmer's ear ICD10CM_2017:H60.33|ICD10CM_2017:H60.339|SNOMEDCT_US_2016_09_01:194200000|SNOMEDCT_US_2016_09_01:267665002 C0543888 Epileptic encephalopathy Encephalopathic epilepsy | Epileptic encephalopathy | epileptic encephalopathy HPO2016_07_04:HP:0200134|OMIM2016_04_17:MTHU028611 C0022658 Kidney diseases DISORDER KIDNEY | DISORDER RENAL | Disease of kidney | Disease, Kidney | Diseases, Kidney | Disorder kidney | Disorder of kidney | Disorder renal | Disorder;kidney | KIDNEY DISEASE | Kidney Disease | Kidney Diseases | Kidney Diseases [Disease/Finding] | Kidney Disorder | Kidney Disorders | Kidney disease | Kidney disease (disorder) | Kidney disease NOS | Kidney disease NOS (disorder) | Kidney disease, NOS | Kidney diseases | Kidney disorder | Kidneys--Diseases | NEPHROPATHY | NEPHROPATHY NOS | Nephropathies | Nephropathy | Nephropathy NOS | Nephropathy, NOS | RENAL DISEASE | RENAL DISEASE, NOS | RENAL DISORDER | RENAL DISORDERS | RENAL DISORDERS: NONSPECIFIC | Renal Disease | Renal Diseases | Renal Disorder | Renal disease | Renal disease NOS | Renal disease, NOS | Renal diseases | Renal disorder | Renal disorder NOS | Renal disorder, NOS | diseases kidneys | kidney disease | kidney diseases | kidney disorder | kidney disorders | nephrologic disease | nephropathies | nephropathy | nephropathy (diagnosis) | renal disease | renal disease (diagnosis) | renal diseases | renal disorder | renal disorder (diagnosis) | renal disorders | renal; disease CSP2006:impairment of health or a condition of abnormal functioning of the kidney. | HPO2016_07_04:A nonspecific term referring to disease or damage of the kidneys. [HPO:curators] | MEDLINEPLUS_20151021:Your kidneys are two bean-shaped organs, each about the size of your fists. They are located near the middle of your back, just below the rib cage. Inside each kidney about a million tiny structures called nephrons filter blood. They remove waste products and extra water, which become urine. The urine flows through tubes called ureters to your bladder, which stores the urine until you go to the bathroom.
Most kidney diseases attack the nephrons. This damage may leave kidneys unable to remove wastes. Causes can include genetic problems, injuries, or medicines. You are at greater risk for kidney disease if you have diabetes, high blood pressure, or a close family member with kidney disease. Chronic kidney disease damages the nephrons slowly over several years. Other kidney problems include:
Your doctor can run tests to find out if you have kidney disease. If your kidneys fail completely, a kidn | MSH2017_2016_08_12:Pathological processes of the KIDNEY or its component tissues. | NCI2016_02D:A neoplastic or non-neoplastic condition affecting the kidney. Representative examples of non-neoplastic conditions include glomerulonephritis and nephrotic syndrome. Representative examples of neoplastic conditions include benign processes (e.g., renal lipoma and renal fibroma) and malignant processes (e.g., renal cell carcinoma and renal lymphoma). | NCI2016_02D:A term referring to any disease affecting the kidneys. | NCI2016_NICHD_1602D:Disorders affecting the kidney, including inflammatory and non-inflammatory conditions. HPO2016_07_04:HP:0000077|HPO2016_07_04:HP:0000112|ICD10CM_2017:N08|ICD10CM_2017:N28.9|MSH2017_2016_08_12:D007674|OMIM2016_04_17:MTHU036995|OMIM2016_04_17:MTHU047531|SNOMEDCT_US_2016_09_01:155871008|SNOMEDCT_US_2016_09_01:266612003|SNOMEDCT_US_2016_09_01:266624005|SNOMEDCT_US_2016_09_01:266627003|SNOMEDCT_US_2016_09_01:274108006|SNOMEDCT_US_2016_09_01:90708001
C0013421 Dystonia DYSTONIA | Dystonia | Dystonia (finding) | Dystonia, Muscle | Dystonia, unspecified | Dystonias | Dystonic movements | Muscle Dystonia | [X]Dystonia, unspecified | abnormal muscle twitching or contraction | dystonia | dystonia (physical finding) | dystonia was noted | dystonias | dystonic movements | involuntary twisting movements | involuntary twisting movements (symptom) HPO2016_07_04:An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. [HPO:probinson] | MSH2017_2016_08_12:An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77) HPO2016_07_04:HP:0001332|MSH2017_2016_08_12:D004421|OMIM2016_04_17:MTHU003908|SNOMEDCT_US_2016_09_01:250068003
C0263610 Sunlight-induced angio-edema-urticaria Light urticaria | Photogenic urticaria | Photosensitivity urticaria | SOLAR URTICARIA | Solar urticaria | Solar urticaria (disorder) | Solar urticaria, NOS | Sunlight-induced angio-edema-urticaria | Sunlight-induced angio-oedema-urticaria | Sunlight-induced angioedema-urticaria | Urticaria light | solar urticaria | solar urticaria (diagnosis) | solar; urticaria | sunshine; urticaria | urticaria; solar | urticaria; sunshine ICD10CM_2017:L56.3|SNOMEDCT_US_2016_09_01:10347006|SNOMEDCT_US_2016_09_01:200859008|SNOMEDCT_US_2016_09_01:238696000|SNOMEDCT_US_2016_09_01:390005009
C1837256 Macrovesicular steatosis Macrovesicular Steatosis | Macrovesicular hepatic steatosis | Macrovesicular steatosis HPO2016_07_04:A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. [HPO:probinson] | NCI2016_02D:A morphologic finding indicating intracytoplasmic fat accumulation in the liver parenchyma. Unlike microvesicular steatosis, the fat accumulation displaces the nucleus of the hepatocytes, creating a characteristic signet-ring appearance. HPO2016_07_04:HP:0001403|OMIM2016_04_17:MTHU001619
C0233706 Acarophobia Acaraphobia | Acariphobia | Acariphobia (finding) | Acarophobia | Acarophobia (finding) | Fear of insects | Fear of insects (finding) | acarophobia | fear of insects SNOMEDCT_US_2016_09_01:19512009|SNOMEDCT_US_2016_09_01:403592009
C0393724 Tactile epilepsy Tactile Epilepsy | Tactile epilepsy | Tactile epilepsy (disorder) SNOMEDCT_US_2016_09_01:230449001
C3278658 Linear hyperpigmentation Linear hyperpigmentation HPO2016_07_04:HP:0007546|OMIM2016_04_17:MTHU034034
C1837463 Narrow face Decreased breadth of face | Decreased horizontal dimension of face | Decreased transverse dimension of face | Decreased width of face | Horizontal deficiency of face | Horizontal hypoplasia of face | Horizontal insufficiency of face | Narrow | Narrow face | Narrow facies | Thin facies | Transverse deficiency of face | Transverse hypoplasia of face | Transverse insufficiency of face | narrow face | narrow face (physical finding) HPO2016_07_04:Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). [pmid:19125436] HPO2016_07_04:HP:0000275|OMIM2016_04_17:MTHU001779|OMIM2016_04_17:MTHU014124
C3151519 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 MDDGA3 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 | WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED OMIM2016_04_17:253280|OMIM2016_04_17:606822
C1656583 Rosacea Parasites are living things that use other living things - like your body - for food and a place to live. You can get them from contaminated food or water, a bug bite, or sexual contact. Some parasitic diseases are easily treated and some are not. Parasites range in size from tiny, one-celled organisms called protozoa to worms that can be seen with the naked eye. Some parasitic diseases occur in the United States. Contaminated water supplies can lead to Giardia infections. Cats can transmit toxoplasmosis, which is dangerous for pregnant women. Others, like malaria, are common in other parts of the world. If you are traveling, it's important to drink only water you know is safe. Prevention is especially important. There are no vaccines for parasitic diseases. Some medicines are available to treat parasitic infections. A collapsed lung happens when air enters the pleural space, the area between the lung and the chest wall. If it is a total collapse, it is called pneumothorax. If only part of the lung is affected, it is called atelectasis. Causes of a collapsed lung include If only a small area of the lung is affected, you may not have symptoms. If a large area is affected, you may feel short of breath and have a rapid heart rate. A chest x-ray can tell if you have it. Treatment depends on the underlying cause. NIH: National Heart, Lung, and Blood Institute A dwarf is a person of short stature - under 4' 10" as an adult. More than 200 different conditions can cause dwarfism. A single type, called achondroplasia, causes about 70 percent of all dwarfism. Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. It makes your arms and legs short in comparison to your head and trunk. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease. However, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and live as long as other people. Menstruation, or period, is a woman's monthly bleeding. Abnormal vaginal bleeding is different from normal menstrual periods. It could be bleeding that is between periods, lasts several weeks, or happens before puberty or after menopause. Causes can include Bleeding during pregnancy can have several different causes. It is not always a serious problem, but to be safe you should always contact your healthcare provider. Pelvic exams, blood tests and other procedures can help your healthcare provider diagnose the problem. Treatment depends on the cause. A transient ischemic attack (TIA) is a stroke that comes and goes quickly. It happens when the blood supply to part of the brain stops briefly. Symptoms of a TIA are like other stroke symptoms, but do not last as long. They happen suddenly, and include Most symptoms of a TIA disappear within an hour, although they may last for up to 24 hours. Because you cannot tell if these symptoms are from a TIA or a stroke, you should get to the hospital quickly. TIAs are often a warning sign for future strokes. Taking medicine, such as blood thinners, may reduce your risk of a stroke. Your doctor might also recommend surgery. NIH: National Institute of Neurological Disorders and Stroke Your soft tissues connect, support, or surround other tissues. Examples include your muscles, tendons, fat, and blood vessels. Soft tissue sarcoma is a cancer of these soft tissues. There are many kinds, based on the type of tissue they started in. They may cause a lump or swelling in the soft tissue. Sometimes they spread and can press on nerves and organs, causing problems such as pain or trouble breathing. No one knows exactly what causes these cancers. They are not common, but you have a higher risk if you have been exposed to certain chemicals, have had radiation therapy, or have certain genetic diseases. Doctors diagnose soft tissue sarcomas with a biopsy. Treatments include surgery to remove the tumor, radiation therapy, chemotherapy, or a combination. NIH: National Cancer Institute Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases. Viruses cause some of them, like hepatitis A, hepatitis B and hepatitis C. Others can be the result of drugs, poisons or drinking too much alcohol. If the liver forms scar tissue because of an illness, it's called cirrhosis. Jaundice, or yellowing of the skin, can be one sign of liver disease. Cancer can affect the liver. You could also inherit a liver disease such as hemochromatosis. Urinary incontinence (UI) is loss of bladder control. Symptoms can range from mild leaking to uncontrollable wetting. It can happen to anyone, but it becomes more common with age. Women experience UI twice as often as men. Most bladder control problems happen when muscles are too weak or too active. If the muscles that keep your bladder closed are weak, you may have accidents when you sneeze, laugh or lift a heavy object. This is stress incontinence. If bladder muscles become too active, you may feel a strong urge to go to the bathroom when you have little urine in your bladder. This is urge incontinence or overactive bladder. There are other causes of incontinence, such as prostate problems and nerve damage. Treatment depends on the type of problem you have and what best fits your lifestyle. It may include simple exercises, medicines, special devices or procedures prescribed by your doctor, or surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases plague vaccine Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include Scientists think that a viral infection makes the facial nerve swell or become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with a cold or flu. Three out of four patients improve without treatment. With or without treatment, most people begin to get better within 2 weeks and recover completely within 3 to 6 months. NIH: National Institute of Neurological Disorders and Stroke Frostbite is an injury to the body that is caused by freezing. It most often affects the nose, ears, cheeks, chin, fingers, or toes. Frostbite can permanently damage the body, and severe cases can lead to amputation. Signs of frostbite include If you have symptoms of frostbite, seek medical care. But if immediate medical care isn't available, here are steps to take: Centers for Disease Control and Prevention Tumors are abnormal growths in your body. They are made up of extra cells. Normally, cells grow and divide to form new cells as your body needs them. When cells grow old, they die, and new cells take their place. Sometimes, this process goes wrong. New cells form when your body does not need them, and old cells do not die when they should. When these extra cells form a mass, it is called a tumor. Tumors can be either benign or malignant. Benign tumors aren't cancer. Malignant ones are. Benign tumors grow only in one place. They cannot spread or invade other parts of your body. Even so, they can be dangerous if they press on vital organs, such as your brain. Treatment often involves surgery. Benign tumors usually don't grow back. NIH: National Cancer Institute Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses and sex organs. CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and making it easy for bacteria to grow. This can lead to problems such as repeated lung infections and lung damage. The symptoms and severity of CF vary widely. Some people have serious problems from birth. Others have a milder version of the disease that doesn't show up until they are teens or young adults. Although there is no cure for CF, treatments have improved greatly in recent years. Until the 1980s, most deaths from CF occurred in children and teenagers. Today, with improved treatments, some people who have CF are living into their forties, fifties, or older. NIH: National Heart, Lung, and Blood Institute The adrenal glands are small glands located on top of each kidney. They produce hormones that you can't live without, including sex hormones and cortisol. Cortisol helps you respond to stress and has many other important functions. With adrenal gland disorders, your glands make too much or not enough hormones. In Cushing's syndrome, there's too much cortisol, while with Addison's disease, there is too little. Some people are born unable to make enough cortisol. Causes of adrenal gland disorders include Treatment depends on which problem you have. Surgery or medicines can treat many adrenal gland disorders. NIH: National Institute of Child Health and Human Development Bowel incontinence is the inability to control your bowels. When you feel the urge to have a bowel movement, you may not be able to hold it until you get to a toilet. Millions of Americans have this problem. It affects people of all ages - children and adults. It is more common in women and older adults. It is not a normal part of aging. Causes include Treatments include changes in diet, medicines, bowel training, or surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat-clearing and blinking. You may repeat words, spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It often occurs with other problems, such as The cause of Tourette syndrome is unknown. It is more common in boys than girls. The tics usually start in childhood and may be worst in the early teens. Many people eventually outgrow them. No treatment is needed unless the tics interfere with everyday life. Excitement or worry can make tics worse. Calm, focused activities may make them better. Medicines and talk therapy may also help. NIH: National Institute of Neurological Disorders and Stroke Monkeypox is a rare viral disease. It occurs mostly in central and western Africa. Wild rodents and squirrels carry it, but it is called monkeypox because scientists saw it first in lab monkeys. In 2003, it was reported in prairie dogs and humans in the U.S. Centers for Disease Control and Prevention Rickets causes soft, weak bones in children. It usually occurs when they do not get enough vitamin D, which helps growing bones absorb the minerals calcium and phosphorous. It can also happen when calcium or phosphorus levels are too low. Your child might not get enough vitamin D if he or she In addition to dietary rickets, children can get an inherited form of the disease. Symptoms include bone pain or tenderness, impaired growth, and deformities of the bones and teeth. Your child's doctor uses lab and imaging tests to make the diagnosis. Treatment is replacing the calcium, phosphorus, or vitamin D that are lacking in the diet. Rickets is rare in the United States. Canker sores are small, round sores on the inside of the cheek, under the tongue, or in the back of the throat. They usually have a red edge and a gray center. They can be quite painful. They are not the same as cold sores, which are caused by herpes simplex. Canker sores aren't contagious. They may happen if you have a viral infection. They may also be triggered by stress, food allergies, lack of vitamins and minerals, hormonal changes or menstrual periods. In some cases the cause is unknown. In most cases, the sores go away by themselves. Some ointments, creams or rinses may help with the pain. Avoiding hot, spicy food while you have a canker sore also helps. Your salivary glands make saliva - sometimes called spit - and empty it into your mouth through openings called ducts. Saliva makes your food moist, which helps you chew and swallow. It helps you digest your food. It also cleans your mouth and contains antibodies that can kill germs. Salivary gland cancer is a type of head and neck cancer. It is rare. It may not cause any symptoms, or you could notice Doctors diagnose salivary gland cancer using a physical exam, imaging tests, and a biopsy. Treatment can include surgery, radiation therapy, and/or chemotherapy. NIH: National Cancer Institute Have you ever had the "stomach flu?" What you probably had was gastroenteritis - not a type of flu at all. Gastroenteritis is an inflammation of the lining of the intestines caused by a virus, bacteria or parasites. Viral gastroenteritis is the second most common illness in the U.S. The cause is often a norovirus infection. It spreads through contaminated food or water, and contact with an infected person. The best prevention is frequent hand washing. Symptoms of gastroenteritis include diarrhea, abdominal pain, vomiting, headache, fever and chills. Most people recover with no treatment. The most common problem with gastroenteritis is dehydration. This happens if you do not drink enough fluids to replace what you lose through vomiting and diarrhea. Dehydration is most common in babies, young children, the elderly and people with weak immune systems. NIH: National Institute of Diabetes and Digestive and Kidney Diseases Rosacea is a long-term disease that affects your skin and sometimes your eyes. It causes redness and pimples. Rosacea is most common in women and people with fair skin. It most often affects middle-aged and older adults. In most cases, rosacea only affects the face. Symptoms can include No one knows what causes rosacea. You may be more likely to have it if you blush a lot or if rosacea runs in your family. Rosacea is not dangerous. There is no cure, but treatments can help. They include medicines and sometimes surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. There are two main types of porphyrias. One affects the skin and the other affects the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go. Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress, and sun exposure. Attacks develop over hours or days. They can last for days or weeks. Porphyria can be hard to diagnose. It requires blood, urine, and stool tests. Each type of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized. NIH: National Institute of Diabetes and Digestive and Kidney Diseases Sleep apnea is a common disorder that causes your breathing to stop or get very shallow. Breathing pauses can last from a few seconds to minutes. They may occur 30 times or more an hour. The most common type is obstructive sleep apnea. It causes your airway to collapse or become blocked during sleep. Normal breathing starts again with a snort or choking sound. People with sleep apnea often snore loudly. However, not everyone who snores has sleep apnea. You are more at risk for sleep apnea if you are overweight, male, or have a family history or small airways. Children with enlarged tonsils may also get it. Doctors diagnose sleep apnea based on medical and family histories, a physical exam, and sleep study results. When your sleep is interrupted throughout the night, you can be drowsy during the day. People with sleep apnea are at higher risk for car crashes, work-related accidents, and other medical problems. If you have it, it is important to get treatment. Lifestyle changes, mouthpieces, surgery, and breathing devices can treat sleep apnea in many people. NIH: National Heart, Lung, and Blood Institute Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. In the United States, about 20 million people have asthma. Nearly 9 million of them are children. Children have smaller airways than adults, which makes asthma especially serious for them. Children with asthma may experience wheezing, coughing, chest tightness, and trouble breathing, especially early in the morning or at night. Many things can cause asthma, including When asthma symptoms become worse than usual, it is called an asthma attack. Asthma is treated with two kinds of medicines: quick-relief medicines to stop asthma symptoms and long-term control medicines to prevent symptoms. Corresponds to the Role class If you have lupus, your immune system attacks healthy cells and tissues by mistake. This can damage your joints, skin, blood vessels and organs. There are many kinds of lupus. The most common type, systemic lupus erythematosus, affects many parts of the body. Discoid lupus causes a rash that doesn't go away. Subacute cutaneous lupus causes sores after being out in the sun. Another type can be caused by medication. Neonatal lupus, which is rare, affects newborns. Anyone can get lupus, but women are most at risk. Lupus is also more common in African American, Hispanic, Asian and Native American women. The cause of lupus is not known. Lupus has many symptoms. Some common ones are There is no one test to diagnose lupus, and it may take months or years to make the diagnosis. There is no cure for lupus, but medicines and lifestyle changes can help control it. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases If you are pregnant, an infection can be more than just a problem for you. Some infections can be dangerous to your baby. You can help yourself avoid infections: You may need to take medicines or get a vaccine to prevent an infection in your baby. For example, you may need to take antibiotics if you develop an infection with group B strep, or take medicines if you have genital herpes. Only some medicines and vaccines are safe during pregnancy. Ask your health care provider about how best to protect you and your baby. Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Your gallbladder is most likely to give you trouble if something blocks the flow of bile through the bile ducts. That is usually a gallstone. Gallstones form when substances in bile harden. Gallstone attacks usually happen after you eat. Signs of a gallstone attack may include nausea, vomiting, or pain in the abdomen, back, or just under the right arm. Gallstones are most common among older adults, women, overweight people, Native Americans and Mexican Americans. Gallstones are often found during imaging tests for other health conditions. If you do not have symptoms, you usually do not need treatment. The most common treatment is removal of the gallbladder. Fortunately, you can live without a gallbladder. Bile has other ways to reach your small intestine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases A burn is damage to your body's tissues caused by heat, chemicals, electricity, sunlight or radiation. Scalds from hot liquids and steam, building fires and flammable liquids and gases are the most common causes of burns. Another kind is an inhalation injury, caused by breathing smoke. There are three types of burns: Burns can cause swelling, blistering, scarring and, in serious cases, shock and even death. They also can lead to infections because they damage your skin's protective barrier. Treatment for burns depends on the cause of the burn, how deep it is, and how much of the body it covers. Antibiotic creams can prevent or treat infections. For more serious burns, treatment may be needed to clean the wound, replace the skin, and make sure the patient has enough fluids and nutrition. NIH: National Institute of General Medical Sciences Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person born with Down syndrome is different. People with the syndrome may also have other health problems. They may be born with heart disease. They may have dementia. They may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton. The chance of having a baby with Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development Most people have four pea-sized glands, called parathyroid glands, on the thyroid gland in the neck. Though their names are similar, the thyroid and parathyroid glands are completely different. The parathyroid glands make parathyroid hormone (PTH), which helps your body keep the right balance of calcium and phosphorous. If your parathyroid glands make too much or too little hormone, it disrupts this balance. If they secrete extra PTH, you have hyperparathyroidism, and your blood calcium rises. In many cases, a benign tumor on a parathyroid gland makes it overactive. Or, the extra hormones can come from enlarged parathyroid glands. Very rarely, the cause is cancer. If you do not have enough PTH, you have hypoparathyroidism. Your blood will have too little calcium and too much phosphorous. Causes include injury to the glands, endocrine disorders, or genetic conditions. Treatment is aimed at restoring the balance of calcium and phosphorous. NIH: National Institute of Diabetes and Digestive and Kidney Diseases Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. Obesity occurs over time when you eat more calories than you use. The balance between calories-in and calories-out differs for each person. Factors that might affect your weight include your genetic makeup, overeating, eating high-fat foods, and not being physically active. Being obese increases your risk of diabetes, heart disease, stroke, arthritis, and some cancers. If you are obese, losing even 5 to 10 percent of your weight can delay or prevent some of these diseases. For example, that means losing 10 to 20 pounds if you weigh 200 pounds. NIH: National Institute of Diabetes and Digestive and Kidney Diseases Most insect bites are harmless, though they sometimes cause discomfort. Bee, wasp, and hornet stings and fire ant bites usually hurt. Mosquito, flea, and mite bites usually itch. Insects can also spread diseases. In the United States, some mosquitoes spread West Nile virus. Travelers outside the United States may be at risk for malaria and other infections. To prevent insect bites and their complications All kids misbehave some times. And some may have temporary behavior problems due to stress. For example, the birth of a sibling, a divorce, or a death in the family may cause a child to act out. Behavior disorders are more serious. They involve a pattern of hostile, aggressive, or disruptive behaviors for more than 6 months. The behavior is also not appropriate for the child's age. Warning signs can include If you see signs of a problem, ask for help. Poor choices can become habits. Kids who have behavior problems are at higher risk for school failure, mental health problems, and even suicide. Classes or family therapy may help parents learn to set and enforce limits. Talk therapy and behavior therapy for your child can also help. An arrhythmia is a problem with the speed or rhythm of the heartbeat. Atrial fibrillation (AF) is the most common type of arrhythmia. The cause is a disorder in the heart's electrical system. Often, people who have AF may not even feel symptoms. But you may feel AF can lead to an increased risk of stroke. In many patients, it can also cause chest pain, heart attack, or heart failure. Doctors diagnose AF using family and medical history, a physical exam, and a test called an electrocardiogram (EKG), which looks at the electrical waves your heart makes. Treatments include medicines and procedures to restore normal rhythm. NIH: National Heart, Lung, and Blood Institute Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; children with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000 rare diseases. More than 25 million Americans have one. Rare diseases It can be hard to find a specialist who knows how to treat your rare disease. Disease advocacy groups, rare disease organizations, and genetics clinics may help you to find one. NIH: National Institutes of Health Chronic fatigue syndrome (CFS) is a disorder that causes extreme fatigue. This fatigue is not the kind of tired feeling that goes away after you rest. Instead, it lasts a long time and limits your ability to do ordinary daily activities. The main symptom of CFS is severe fatigue that lasts for 6 months or more. You also have at least four of these other symptoms: CFS is hard to diagnose. There are no tests for it, and other illnesses can cause similar symptoms. Your doctor has to rule out other diseases before making a diagnosis of CFS. No one knows what causes CFS. It is most common in women in their 40s and 50s, but anyone can have it. It can last for years. There is no cure for CFS, so the goal of treatment is to improve symptoms. Medicine may treat pain, sleep disorders, and other problems. Lifestyle changes, coping techniques, and a special, gradual exercise program can also help. Centers for Disease Control and Prevention Scoliosis causes a sideways curve of your backbone, or spine. These curves are often S- or C-shaped. Scoliosis is most common in late childhood and the early teens, when children grow fast. Girls are more likely to have it than boys. It can run in families. Symptoms include leaning to one side and having uneven shoulders and hips. Doctors use your medical and family history, a physical exam, and imaging tests to diagnose scoliosis. Treatment depends on your age, how much more you're likely to grow, how much curving there is, and whether the curve is temporary or permanent. People with mild scoliosis might only need checkups to see if the curve is getting worse. Others might need to wear a brace or have surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases Neuroblastoma is a cancer that forms in your nerve tissue. It usually begins in the adrenal glands, which sit atop your kidneys. It may also begin in your neck, chest or spinal cord. The cancer often begins in early childhood. Sometimes it begins before a child is born. By the time doctors find the cancer, it has usually spread to other parts of the body. The most common symptoms are Treatments include surgery, radiation therapy, chemotherapy, biologic therapy, or a combination. Biologic therapy boosts your body's own ability to fight cancer. Sometimes before giving treatment, doctors wait to see whether symptoms get worse. This is called watchful waiting. NIH: National Cancer Institute A sprain is a stretched or torn ligament. Ligaments are tissues that connect bones at a joint. Falling, twisting, or getting hit can all cause a sprain. Ankle and wrist sprains are common. Symptoms include pain, swelling, bruising, and being unable to move your joint. You might feel a pop or tear when the injury happens. A strain is a stretched or torn muscle or tendon. Tendons are tissues that connect muscle to bone. Twisting or pulling these tissues can cause a strain. Strains can happen suddenly or develop over time. Back and hamstring muscle strains are common. Many people get strains playing sports. Symptoms include pain, muscle spasms, swelling, and trouble moving the muscle. At first, treatment of both sprains and strains usually involves resting the injured area, icing it, wearing a bandage or device that compresses the area, and medicines. Later treatment might include exercise and physical therapy. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases The uterus, or womb, is an important female reproductive organ. It is the place where a baby grows when a woman is pregnant. If you have an ectopic pregnancy, the fertilized egg grows in an abnormal place, outside the uterus, usually in the fallopian tubes. The result is usually a miscarriage. Ectopic pregnancy can be a medical emergency if it ruptures. Signs of ectopic pregnancy include Get medical care right away if you have these signs. Doctors use drugs or surgery to remove the ectopic tissue so it doesn't damage your organs. Many women who have had ectopic pregnancies go on to have healthy pregnancies later. Dept. of Health and Human Services Office on Women's Health If you've ever groaned, "Oh, my aching back!", you are not alone. Back pain is one of the most common medical problems, affecting 8 out of 10 people at some point during their lives. Back pain can range from a dull, constant ache to a sudden, sharp pain. Acute back pain comes on suddenly and usually lasts from a few days to a few weeks. Back pain is called chronic if it lasts for more than three months. Most back pain goes away on its own, though it may take awhile. Taking over-the-counter pain relievers and resting can help. However, staying in bed for more than 1 or 2 days can make it worse. If your back pain is severe or doesn't improve after three days, you should call your health care provider. You should also get medical attention if you have back pain following an injury. Treatment for back pain depends on what kind of pain you have, and what is causing it. It may include hot or cold packs, exercise, medicines, injections, complementary treatments, and sometimes surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. The cervix has a small opening that expands during childbirth. It also allows menstrual blood to leave a woman's body. Your health care provider may perform a Pap test during your health checkup to look for changes to the cells of the cervix, including cervical cancer. Other problems with the cervix include: Most of us see our world in color. We enjoy looking at a lush green lawn or a red rose in full bloom. If you have a color vision defect, you may see these colors differently than most people. There are three main kinds of color vision defects. Red-green color vision defects are the most common. This type occurs in men more than in women. The other major types are blue-yellow color vision defects and a complete absence of color vision. Most of the time, color blindness is genetic. There is no treatment, but most people adjust and the condition doesn't limit their activities. Pneumococci are a type of streptococcus bacteria. The bacteria spread through contact with people who are ill or by healthy people who carry the bacteria in the back of their nose. Pneumococcal infections can be mild or severe. The most common types of infections are How the diagnosis is made depends upon where the infection is. Your doctor will do a physical exam and health history. Possible tests may include blood, imaging, or lab tests. Treatment is with antibiotics. Vaccines can prevent pneumococcal infections. There are two vaccines. One is for infants and young children. The other is for people at high risk, including those who are over 65 years old, have chronic illnesses or weak immune systems, smoke, have asthma, or live in long-term care facilities. Centers for Disease Control and Prevention Syphilis is a sexually transmitted disease caused by bacteria. It infects the genital area, lips, mouth, or anus of both men and women. You usually get syphilis from sexual contact with someone who has it. It can also pass from mother to baby during pregnancy. The early stage of syphilis usually causes a single, small, painless sore. Sometimes it causes swelling in nearby lymph nodes. If you do not treat it, syphilis usually causes a non-itchy skin rash, often on your hands and feet. Many people do not notice symptoms for years. Symptoms can go away and come back. The sores caused by syphilis make it easier to get or give someone HIV during sex. If you are pregnant, syphilis can cause birth defects, or you could lose your baby. In rare cases, syphilis causes serious health problems and even death. Syphilis is easy to cure with antibiotics if you catch it early. Correct usage of latex condoms greatly reduces, but does not completely eliminate, the risk of catching or spreading syphilis. NIH: National Institute of Allergy and Infectious Diseases A pulmonary embolism is a sudden blockage in a lung artery. The cause is usually a blood clot in the leg called a deep vein thrombosis that breaks loose and travels through the bloodstream to the lung. Pulmonary embolism is a serious condition that can cause If a clot is large, or if there are many clots, pulmonary embolism can cause death. Half the people who have pulmonary embolism have no symptoms. If you do have symptoms, they can include shortness of breath, chest pain or coughing up blood. Symptoms of a blood clot include warmth, swelling, pain, tenderness and redness of the leg. The goal of treatment is to break up clots and help keep other clots from forming. NIH: National Heart, Lung, and Blood Institute Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. When you are pregnant, high blood sugar levels are not good for your baby. About seven out of every 100 pregnant women in the United States get gestational diabetes. Gestational diabetes is diabetes that happens for the first time when a woman is pregnant. Most of the time, it goes away after you have your baby. But it does increase your risk for developing type 2 diabetes later on. Your child is also at risk for obesity and type 2 diabetes. Most women get a test to check for diabetes during their second trimester of pregnancy. Women at higher risk may get a test earlier. If you already have diabetes, the best time to control your blood sugar is before you get pregnant. High blood sugar levels can be harmful to your baby during the first weeks of pregnancy - even before you know you are pregnant. To keep you and your baby healthy, it is important to keep your blood sugar as close to normal as possible before and during pregnancy. Either type of diabetes during pregnancy increases the chances of problems for you and your baby. To help lower the chances talk to your health care team about An allergy to a pharmaceutical product. Normally, if you get hurt, your body forms a blood clot to stop the bleeding. Some people get too many clots or their blood clots abnormally. Many conditions can cause the blood to clot too much or prevent blood clots from dissolving properly. Risk factors for excessive blood clotting include
| MSH2017_2016_08_12:Bites and stings inflicted by insects. MSH2017_2016_08_12:D007299
C1848916 Tay-sachs disease, variant b1 TAY-SACHS DISEASE, B1 VARIANT | TAY-SACHS DISEASE, VARIANT B1 | Tay-Sachs Disease, Variant B1 MSH2017_2016_08_12:C564785|OMIM2016_04_17:272800|OMIM2016_04_17:606869
C1608954 Infusion site extravasation Infusion Site Extravasation | Infusion site extravasation | infusion site extravasation (diagnosis) NCI2016_02D:Leakage of a pharmacologic or a biological substance from the infusion site into the surrounding tissue. Signs and symptoms include induration, erythema, swelling, burning sensation, and pain at the infusion site. | NCI2016_CTCAE_1602D:A disorder characterized by leakage of a pharmacologic or a biologic substance from the infusion site into the surrounding tissue. Signs and symptoms include induration, erythema, swelling, burning sensation and marked discomfort at the infusion site.
C3150281 Fetal overgrowth Fetal overgrowth HPO2016_07_04:HP:0001548|OMIM2016_04_17:MTHU027850
C3810062 Congenital disorder of glycosylation, type iw CDG Iw | CDG1W | CDGIw | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw OMIM2016_04_17:615596
C4280601 Xanthoma of periocular region Xanthoma of periocular region HPO2016_07_04:HP:0001114
C1837247 Antenatal intracerebral hemorrhage Antenatal intracerebral hemorrhage HPO2016_07_04:Cerebral hemorrhage that occurs before birth. [HPO:probinson] HPO2016_07_04:HP:0007023|OMIM2016_04_17:MTHU001603
C0271468 Eustachian tube dysfunction Auditory tube disorder | DISORDERS OF THE EUSTACHIAN TUBE | Disease of Eustachian tube | Disorder of Eustachian tube | Dysfunction of Eustachian tube | Dysfunction of eustachian tube | Dysfunction of eustachian tube (disorder) | Dysfunction;eustachian tube | ET - Eustachian tube disorder | ETD - Eustachian tube dysfunction | EUSTACHIAN TUBE DYSFUNCTION | Eustachian tube dis. | Eustachian tube disorder | Eustachian tube disorder (disorder) | Eustachian tube disorder NOS | Eustachian tube disorder NOS (disorder) | Eustachian tube disorder, NOS | Eustachian tube disorder, unspecified | Eustachian tube disorders | Eustachian tube dysfunction | Unspecified Eustachian tube disorder | Unspecified Eustachian tube disorder, unspecified ear | disease (or disorder); eustachian tube | diseases eustachian tube | disorder of eustachian tube | disorder of eustachian tube (diagnosis) | dysfunction eustachian tube | dysfunction eustachian tubes | eustachian tube disorder | eustachian tube disorders | eustachian tube dysfunction | eustachian tube dysfunction (diagnosis) | tube disorders eustachian ICD10CM_2017:H69.9|ICD10CM_2017:H69.90|ICD9CM_2014:381.81|ICD9CM_2014:381.9|SNOMEDCT_US_2016_09_01:155221004|SNOMEDCT_US_2016_09_01:194279000|SNOMEDCT_US_2016_09_01:267755000|SNOMEDCT_US_2016_09_01:56713002|SNOMEDCT_US_2016_09_01:69494008
C4024159 Aplasia/hypoplasia involving the nose Aplasia/Hypoplasia involving the nose | Decreased nasal size | Decreased size of nose HPO2016_07_04:Underdevelopment or absence of the nose or parts thereof. [HPO:curators] HPO2016_07_04:HP:0009924
C4280291 Nappy scalp hair texture Nappy scalp hair texture HPO2016_07_04:HP:0040149
C1504464 Endoleak Endoleak | Endoleak [Disease/Finding] | Endoleaks | Leak, Perigraft | Leaks, Perigraft | Perigraft Leak | Perigraft Leaks | Persistent flow of blood into grafted stent | Persistent flow of blood into stent graft region | Persistent flow of blood into stent graft region (disorder) MSH2017_2016_08_12:Postoperative hemorrhage from an endovascular AORTIC ANEURYSM repaired with endoluminal placement of stent grafts (BLOOD VESSEL PROSTHESIS IMPLANTATION). It is associated with pressurization, expansion, and eventual rupture of the aneurysm. MSH2017_2016_08_12:D057867|SNOMEDCT_US_2016_09_01:417444002
C1864975 Osteomyelitis leading to amputation due to slow healing fractures Osteomyelitis leading to amputation due to slow healing fractures HPO2016_07_04:HP:0005010|OMIM2016_04_17:MTHU000428
C0239831 Hand muscle weakness HAND MUSCLE WEAKNESS | Hand muscle weakness | Hand muscle weakness (finding) HPO2016_07_04:Reduced strength of the musculature of the hand. [HPO:probinson] HPO2016_07_04:HP:0030237|OMIM2016_04_17:MTHU002950|SNOMEDCT_US_2016_09_01:298283006
C0346906 Malignant neoplasm of cerebral ventricles Malig neop ventricles NOS | Malignant neoplasm of cerebral ventricle | Malignant neoplasm of cerebral ventricle NOS | Malignant neoplasm of cerebral ventricle NOS (disorder) | Malignant neoplasm of cerebral ventricles | Malignant neoplasm of cerebral ventricles (disorder) | Malignant neoplasm of ventricles | malignant neoplasm of cerebral ventricle | malignant neoplasm of cerebral ventricle (diagnosis) | malignant tumor of cerebral ventricle ICD10CM_2017:C71.5|ICD9CM_2014:191.5|SNOMEDCT_US_2016_09_01:188294008|SNOMEDCT_US_2016_09_01:363471001|SNOMEDCT_US_2016_09_01:93748005
C4280614 Angle class 2 malocclusion Angle class 2 malocclusion HPO2016_07_04:HP:0000689
C0270850 Idiopathic generalized epilepsy EIG | EPILEPSY, IDIOPATHIC GENERALIZED | Epilepsy, Idiopathic Generalized | Generalised idiopathic epilepsy and epileptic syndromes | Generalized idiopathic epilepsy and epileptic syndromes | Generalized idiopathic epilepsy and epileptic syndromes NOS | IDIOPATHIC GENERALIZED EPILEPSY | IGE | Idiopathic Generalized Epilepsy | Idiopathic generalised epilepsy | Idiopathic generalized epilepsy | Idiopathic generalized epilepsy (disorder) | Idiopathic generalized epilepsy, NOS | Primary generalised epilepsy | Primary generalized epilepsy | epilepsies generalised idiopathic | epilepsy generalized idiopathic | epilepsy generalized idiopathic (diagnosis) | epilepsy generalized primary | epilepsy; generalized, idiopathic | epilepsy; idiopathic, generalized | epilepsy; syndrome, generalized, idiopathic | generalized; epileptic, idiopathic | idiopathic generalized epilepsy | primary generalized epilepsy | syndrome; epileptic, generalized, idiopathic ICD10CM_2017:G40.3|ICD10CM_2017:G40.309|MSH2017_2016_08_12:C562694|OMIM2016_04_17:600669|SNOMEDCT_US_2016_09_01:36803009
C0016781 Fuchs endothelial dystrophy Atrophy, Fuchs' | Dystrophy, Fuch's Endothelial | Dystrophy, Fuchs' Endothelial | Endothelial Dystrophy, Fuch's | Endothelial Dystrophy, Fuchs' | Fuch Endothelial Dystrophy | Fuch's Endothelial Dystrophy | Fuch's endothelial corneal dystrophy | Fuch's endothelial dystrophy | Fuchs Atrophy | Fuchs Corneal Dystrophy | Fuchs Dystrophy | Fuchs Endothelial Corneal Dystrophy | Fuchs Endothelial Dystrophy | Fuchs corneal dystrophy | Fuchs endothelial corneal dystrophy | Fuchs endothelial corneal dystrophy (physical finding) | Fuchs' Endothelial Dystrophy | Fuchs' Endothelial Dystrophy [Disease/Finding] | Fuchs' corneal dystrophy | Fuchs' corneal dystrophy (disorder) | Fuchs' dystrophy | Fuchs' endothelial corneal dystrophy | Fuchs' endothelial corneal dystrophy (diagnosis) | Fuchs' endothelial dystrophy | Fuchs; dystrophy | corneal dystrophies fuchs | corneal dystrophy fuchs | dystrophia epithelialis corneae | dystrophy fuch | dystrophy fuchs | dystrophy; Fuchs | fuch endothelial dystrophy | fuch's endothelial dystrophy | fuchs endothelial dystrophy | fuchs' corneal dystrophy | fuchs' dystrophy | fuchs' endothelial dystrophy CSP2006:disorder caused by loss of endothelium of the central cornea; it is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain. | MSH2017_2016_08_12:Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain. | NCI2016_02D:An autosomal dominant, bilateral, slowly progressive degeneration of corneal endothelial cells with thickening of Descemet's membrane and accumulation of excrescences. It results in corneal edema and loss of vision. ICD10CM_2017:H18.51|MSH2017_2016_08_12:D005642|SNOMEDCT_US_2016_09_01:16949007|SNOMEDCT_US_2016_09_01:193839007|SNOMEDCT_US_2016_09_01:393581005
C1852406 Cutis gyrata syndrome of beare and stevenson BEARE-STEVENSON CUTIS GYRATA SYNDROME | BEARE-STEVENSON SYNDROME | BSTVS | Beare-Stevenson Cutis Gyrata Syndrome | Beare-Stevenson cutis gyrata syndrome | CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON | Cutis Gyrata Syndrome of Beare And Stevenson | Cutis Gyrata Syndrome of Beare-Stevenson | Cutis gyrata syndrome of Beare and Stevenson | Cutis gyrata syndrome of Beare and Stevenson (disorder) NCI2016_02D:A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and a skin abnormality called cutis gyrata. The craniosynostosis results in a cloverleaf-shaped skull, wide-set eyes, ear abnormalities, underdeveloped upper jaw, and developmental delays. Cutis gyrata is characterized by a wrinkled skin appearance, especially on the face, near the ears, and on the palms and soles. MSH2017_2016_08_12:C565129|OMIM2016_04_17:123790|OMIM2016_04_17:176943|SNOMEDCT_US_2016_09_01:703528008
C0008066 Child behavior disorders Behavior Disorders, Child | Behavior disorders in children | Child Behavior Disorders | Child Behavior Disorders [Disease/Finding] | Disorder;behavior;child | Disorder;behaviour;child | Disorders, Child Behavior | behavior child disorder | child behavior disorder | child behavior disorders CSP2006:child behavior disturbances considered to be pathological based on age and stage appropriateness, e.g., conduct disturbances and anaclitic depression. | MEDLINEPLUS_20151021:
| MSH2017_2016_08_12:Pathological processes of the UTERINE CERVIX. | NCI2016_02D:A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma. MSH2017_2016_08_12:D002577|SNOMEDCT_US_2016_09_01:156010005|SNOMEDCT_US_2016_09_01:156014001|SNOMEDCT_US_2016_09_01:266661001|SNOMEDCT_US_2016_09_01:286988004|SNOMEDCT_US_2016_09_01:63339007
C3151463 Cpvt3 CPVT3 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 OMIM2016_04_17:614021
C0259799 Superficial punctate keratitis Keratitis punctate | PK - Punctate keratitis | Punctate epithelial keratoconjunctivitis | Punctate epithelial keratoconjunctivitis (disorder) | Punctate keratitis | Punctate keratitis (disorder) | Superficial punctate keratitis | Thygeson superficial punctate keratitis | Thygeson superficial punctate keratitis (disorder) | Thygeson's superficial punctate keratitis | punctate keratitis | punctate keratitis (diagnosis) | superficial punctate keratitis ICD10CM_2017:H16.14|ICD9CM_2014:370.21|OMIM2016_04_17:MTHU037418|SNOMEDCT_US_2016_09_01:193767008|SNOMEDCT_US_2016_09_01:267634006|SNOMEDCT_US_2016_09_01:416069001|SNOMEDCT_US_2016_09_01:42513006
C0265384 Hereditary disorder, autosomal Autosomal hereditary disorder | Autosomal hereditary disorder (disorder) | Autosomal hereditary disorder, NOS | Hereditary disorder, autosomal SNOMEDCT_US_2016_09_01:1899006
C3645711 Congenital osteopetrosis Congenital Osteopetrosis MSH2017_2016_08_12:D010022
C0009763 Conjunctivitis CONJUNCTIVITIS | Conjunctiva inflamed | Conjunctivitides | Conjunctivitis | Conjunctivitis (disorder) | Conjunctivitis NOS | Conjunctivitis [Disease/Finding] | Conjunctivitis, NOS | Conjunctivitis, unspecified | Inflammation of conjunctiva | Pink Eye | Unspecified conjunctivitis | Unspecified conjunctivitis (disorder) | conjunctiva inflammation | conjunctivitis | conjunctivitis (diagnosis) | inflammation of conjunctiva CSP2006:inflammation of the mucous membrane that lines the inner surface of the eyelids and the anterior part of the sclera; also called pinkeye and redeye. | HPO2016_07_04:Inflammation of the conjunctiva. [HPO:probinson] | MSH2017_2016_08_12:INFLAMMATION of the CONJUNCTIVA. | NCI2016_02D:Inflammation of the conjunctiva of the eye. | NCI2016_CTCAE_1602D:A disorder characterized by inflammation, swelling and redness to the conjunctiva of the eye. | NCI2016_NCI-GLOSS_1602D:A condition in which the conjunctiva (membranes lining the eyelids and covering the white part of the eye) become inflamed or infected. | NCI2016_NICHD_1602D:Inflammation of the mucous membrane that covers the front of the eye and lines the inside of the eyelids. HPO2016_07_04:HP:0000509|ICD10CM_2017:H10|ICD10CM_2017:H10.9|ICD9CM_2014:372.30|MSH2017_2016_08_12:D003231|OMIM2016_04_17:MTHU036374|SNOMEDCT_US_2016_09_01:193857008|SNOMEDCT_US_2016_09_01:193858003|SNOMEDCT_US_2016_09_01:193875009|SNOMEDCT_US_2016_09_01:9826008
C0423867 Fine hair Fine hair | Fine hair (finding) | Fine hair shaft | Fine hair texture | Thin hair | Thin hair shaft | Thin hair texture | hair texture thin | thin hair texture | thin hair texture (physical finding) HPO2016_07_04:Hair that is fine or thin to the touch. [HPO:probinson] HPO2016_07_04:HP:0002213|OMIM2016_04_17:MTHU007699|OMIM2016_04_17:MTHU008785|SNOMEDCT_US_2016_09_01:247546006
C2026474 Hemiplegic cerebral palsy with spasticity hemiplegic cerebral palsy with spasticity | hemiplegic cerebral palsy with spasticity (diagnosis)
C1860826 Coxa magna Coxa Magna | Coxa Magnas | Coxa magna | Coxa magna (disorder) | coxa magna (diagnosis) HPO2016_07_04:Widening of the femoral head and neck. [HPO:probinson] | MSH2017_2016_08_12:Deformity of the hip characterized by enlargement and deformation of the FEMUR HEAD and FEMUR NECK, often with associated changes in the ACETABULUM. These changes may be secondary to other diseases (e.g. LEGG-PERTHES DISEASE; ARTHRITIS; HIP DISLOCATION, CONGENITAL) or TRAUMA. | SNOMEDCT_US_2016_09_01:Enlargement of femoral head as a result of insult to the femoral head or epiphysis in childhood. HPO2016_07_04:HP:0003279|ICD10CM_2017:M91.4|MSH2017_2016_08_12:D000070603|OMIM2016_04_17:MTHU037183|SNOMEDCT_US_2016_09_01:296041000119103
C0009761 Conjunctival neoplasms Conjunctiva Neoplasm | Conjunctiva Tumor | Conjunctiva--Tumors | Conjunctival Neoplasm | Conjunctival Neoplasms | Conjunctival Neoplasms [Disease/Finding] | Conjunctival Tumor | Conjunctival neoplasm | Neoplasm of Conjunctiva | Neoplasm of conjunctiva | Neoplasm of conjunctiva (diagnosis) | Neoplasm of conjunctiva (disorder) | Neoplasm of the Conjunctiva | Neoplasm, Conjunctival | Neoplasms, Conjunctival | Tumor of Conjunctiva | Tumor of conjunctiva | Tumor of the Conjunctiva | Tumour of conjunctiva | conjunctiva tumors | eye neoplasm conjunctiva | neoplasm of conjunctiva MSH2017_2016_08_12:Tumors or cancer of the CONJUNCTIVA. | NCI2016_02D:A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma. MSH2017_2016_08_12:D003230|SNOMEDCT_US_2016_09_01:126996004
C1333824 Glomangiomatosis Glomangiomatosis | Glomangiomatosis (morphologic abnormality) NCI2016_02D:A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces. SNOMEDCT_US_2016_09_01:703603008
C0154922 Miotic cysts of pupillary margin Miotic cyst of pupillary margin | Miotic cyst of pupillary margin (disorder) | Miotic cysts of pupillary margin | Pupillary margin miotic cyst | miotic cyst of pupillary margin | miotic cyst of pupillary margin (diagnosis) ICD9CM_2014:364.55|SNOMEDCT_US_2016_09_01:22681004
C0007115 Malignant neoplasm of thyroid -- Thyroid Cancer | Cancer of thyroid | Malignant Neoplasm of Thyroid | Malignant Neoplasm of Thyroid Gland | Malignant Neoplasm of the Thyroid | Malignant Neoplasm of the Thyroid Gland | Malignant Thyroid Gland Neoplasm | Malignant Thyroid Gland Tumor | Malignant Thyroid Neoplasm | Malignant Thyroid Tumor | Malignant Tumor of Thyroid | Malignant Tumor of Thyroid Gland | Malignant Tumor of the Thyroid | Malignant Tumor of the Thyroid Gland | Malignant neoplasm of thyroid | Malignant neoplasm of thyroid gland | Malignant neoplasm thyroid | Malignant tumor of thyroid gland | Malignant tumor of thyroid gland (disorder) | Malignant tumour of thyroid gland | Malignant tumour of thyroid gland (disorder) | Neoplasm malig;thyroid gland | THYROID CANCER | THYROID NEOPLASM MALIGNANT | Thyroid Ca | Thyroid cancer | Thyroid gland cancer | Thyroid neoplasm malignant | Thyroid neoplasms malignant | cancer of the thyroid | malignant neoplasm of thyroid gland | malignant neoplasm of thyroid gland (diagnosis) | malignant neosplasm of the thyroid gland | malignant thyroid neoplasm | malignant tumor of thyroid gland | thyroid ca | thyroid cancer | thyroid cancers | thyroid gland cancer NCI2016_02D:A primary or metastatic malignant neoplasm affecting the thyroid gland. ICD10CM_2017:C73|ICD9CM_2014:193|SNOMEDCT_US_2016_09_01:154554008|SNOMEDCT_US_2016_09_01:363478007|SNOMEDCT_US_2016_09_01:94098005
C2673700 Brisk reflexes Brisk reflexes HPO2016_07_04:HP:0001348|OMIM2016_04_17:MTHU021665
C0236701 Cocaine-induced mood disorder Cocaine induced mood disorder | Cocaine-induced mood disorder | Cocaine-induced mood disorder (disorder) | cocaine-induced mood disorder | cocaine-induced mood disorder (diagnosis) SNOMEDCT_US_2016_09_01:10327003
C1849293 Advanced tarsal ossification Advanced tarsal ossification | Precociously ossified tarsal bones HPO2016_07_04:Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. [HPO:probinson] HPO2016_07_04:HP:0008108|OMIM2016_04_17:MTHU009548|OMIM2016_04_17:MTHU013889
C0264624 Vocal nodules in children Vocal nodules in children | Vocal nodules in children (disorder) SNOMEDCT_US_2016_09_01:68489000
C0036216 Sarcoma, experimental Experimental Sarcoma | Experimental Sarcomas | Sarcoma, Experimental | Sarcoma, Experimental [Disease/Finding] | Sarcomas, Experimental MSH2017_2016_08_12:Experimentally induced neoplasms of CONNECTIVE TISSUE in animals to provide a model for studying human SARCOMA. MSH2017_2016_08_12:D012513
C0494261 Combined immunodeficiency Combined immunity defic. NOS | Combined immunity deficiency | Combined immunity deficiency NOS | Combined immunity deficiency NOS (disorder) | Combined immunodeficiencies | Combined immunodeficiency | Combined immunodeficiency syndrome | Combined immunodeficiency, unspecified | Congenital Combined Immunodeficiency | IMMUNODEFICIENCY COMBINED | combined immunity deficiency | combined immunodeficiency | combined immunodeficiency (diagnosis) | combined immunodeficiency syndrome | combined; immunodeficiency | immunodeficiency; combined NCI2016_02D:A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern. HPO2016_07_04:HP:0005387|ICD10CM_2017:D81|ICD10CM_2017:D81.9|ICD9CM_2014:279.2|SNOMEDCT_US_2016_09_01:191003005
C4025628 Abnormal enchondral ossification Abnormal enchondral ossification HPO2016_07_04:An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. [HPO:probinson] HPO2016_07_04:HP:0003336
C1861963 Camptobrachydactyly CAMPTOBRACHYDACTYLY | Camptobrachydactyly | Short foot-brachydactyly of toes, camptodactyly , brachydactyly MSH2017_2016_08_12:C537967|OMIM2016_04_17:114150|OMIM2016_04_17:MTHU048790
C0242225 Color blindness BLINDNESS COLOR | BLINDNESS COLOUR | Blindness color | Blindness colour | Blindness, Color | Blindness;colour vision | COLOR BLINDNESS | Color Blindness | Color Vision Defects | Color Vision Deficiency | Color Vision and Blindness | Color blindness | Color blindness (disorder) | Color blindness NOS | Color blindness NOS (disorder) | Color blindness, NOS | Color vision deficiencies | Color vision deficiency | Color vision deficiency, NOS | Colour blindness | Colour blindness (disorder) | Colour blindness NOS | Colour blindness, NOS | Colour vision deficiency | Colour vision deficiency, NOS | Deficiency;colour vision | IMPAIRED COLOR VISION | No color perception | No colour perception | blindness; color blindness | color blindness | color blindness (diagnosis) | color blindness disorder | color blindness; blindness | color vision deficiency | colour blindness | uncategorized color blindness | uncategorized color blindness (diagnosis) CSP2006:partial or total inability to distinguish one or more chromatic colors. | MEDLINEPLUS_20151021:
Blood clots can form in, or travel to, the blood vessels in the brain, heart, kidneys, lungs, and limbs. A clot in the veins deep in the limbs is called deep vein thrombosis (DVT). DVT usually affects the deep veins of the legs. If a blood clot in a deep vein breaks off and travels through the bloodstream to the lungs and blocks blood flow, the condition is called Pheochromocytoma is a rare tumor that usually starts in the cells of one of your adrenal glands. Although they are usually benign, pheochromocytomas often cause the adrenal gland to make too many hormones. This can lead to high blood pressure and cause symptoms such as
Sometimes pheochromocytoma is part of another condition called multiple endocrine neoplasia syndrome (MEN). People with MEN often have other cancers and other problems involving hormones.
Doctors use lab tests and imaging tests to diagnose it. Surgery is the most common treatment. Other options include radiation therapy, chemotherapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells.
NIH: National Cancer Institute
| MSH2017_2016_08_12:A usually benign, well-encapsulated, lobular, vascular tumor of chromaffin tissue of the ADRENAL MEDULLA or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of EPINEPHRINE and NOREPINEPHRINE, is HYPERTENSION, which may be persistent or intermittent. During severe attacks, there may be HEADACHE; SWEATING, palpitation, apprehension, TREMOR; PALLOR or FLUSHING of the face, NAUSEA and VOMITING, pain in the CHEST and ABDOMEN, and paresthesias of the extremities. The incidence of malignancy is as low as 5% but the pathologic distinction between benign and malignant pheochromocytomas is not clear. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1298) | NCI2016_02D:A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present. | NCI2016_CDISC_1602D:A neoplasm of the adrenal gland medulla, for which the malignancy status has not been established. | NCI2016_NCI-GLOSS_1602D:Tumor that forms in the center of the adrenal gland (gland located above the kidney) that causes it to make too much adrenaline. Pheochromocytomas are usually benign (not cancer) but can cause high blood pressure, pounding headaches, heart palpitations, flushing of the face, nausea, and vomiting. HPO2016_07_04:HP:0002666|HPO2016_07_04:HP:0006748|MSH2017_2016_08_12:D010673|OMIM2016_04_17:164761|OMIM2016_04_17:171300|OMIM2016_04_17:185470|OMIM2016_04_17:602690|OMIM2016_04_17:605995|OMIM2016_04_17:608537|OMIM2016_04_17:MTHU004454|OMIM2016_04_17:MTHU015027|SNOMEDCT_US_2016_09_01:154555009|SNOMEDCT_US_2016_09_01:188337000|SNOMEDCT_US_2016_09_01:269615000|SNOMEDCT_US_2016_09_01:302835009|SNOMEDCT_US_2016_09_01:360332001|SNOMEDCT_US_2016_09_01:360335004|SNOMEDCT_US_2016_09_01:399343007|SNOMEDCT_US_2016_09_01:85583005 C2931201 Urachal adenocarcinoma Adenocarcinoma of the urachus | Urachal adenocarcinoma MSH2017_2016_08_12:C536474 C0015469 Facial paralysis Bell's Palsy | FACIAL PARALYSIS | Facial Nerve Palsy | Facial Nerve Paralysis | Facial Palsies | Facial Palsy | Facial Paralysis | Facial Paralysis [Disease/Finding] | Facial nerve palsies | Facial nerve palsy | Facial nerve palsy (cranial nerve VII) | Facial nerve paralysis | Facial nerve paralysis (disorder) | Facial nerve paralysis, NOS | Facial palsy | Facial palsy (disorder) | Facial paralysis | Nerve Paralysis, Facial | PARALYSIS FACIAL | Palsies, Facial | Palsy, Facial | Palsy;VII nerve | Palsy;facial | Paralyses, Facial | Paralysis Of Facial Nerve | Paralysis facial | Paralysis, Facial | Seventh nerve palsy | Seventh nerve paralysis | VII nerve palsy | VII th nerve palsy | facial nerve palsy | facial nerve paralysis | facial palsy | facial paralyses | facial paralysis | facial; paralysis | nerve disorders facial | palsy facial | palsy facial nerve | paralysis facial nerve | paralysis; facial | paralysis; facial nerve | seventh nerve palsy | seventh nerve paralysis CSP2006:severe or complete loss of facial muscle motor function; this condition may result from central or peripheral lesions; damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles; facial nerve diseases generally results in generalized hemifacial weakness; neuromuscular junction diseases and muscular diseases may also cause facial paralysis. | HPO2016_07_04:Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). [HPO:probinson] | MSH2017_2016_08_12:Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis. | NCI2016_02D:Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur. | NCI2016_NICHD_1602D:A condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve. HPO2016_07_04:HP:0007209|ICD10CM_2017:G51.0|MSH2017_2016_08_12:D005158|OMIM2016_04_17:MTHU036649|OMIM2016_04_17:MTHU036933|OMIM2016_04_17:MTHU037047|OMIM2016_04_17:MTHU037394|OMIM2016_04_17:MTHU044954|SNOMEDCT_US_2016_09_01:155070005|SNOMEDCT_US_2016_09_01:267703001|SNOMEDCT_US_2016_09_01:280816001|SNOMEDCT_US_2016_09_01:46382007|SNOMEDCT_US_2016_09_01:79359001|SNOMEDCT_US_2016_09_01:90039006 C0406235 Discoid atopic dermatitis Discoid atopic dermatitis | Discoid atopic dermatitis (disorder) | Discoid pattern atopic dermatitis | Discoid pattern atopic dermatitis (disorder) | Discoid pattern atopic eczema SNOMEDCT_US_2016_09_01:238543002|SNOMEDCT_US_2016_09_01:402184003 C0740447 Diabetic peripheral neuropathy Diabetic peripheral neuropathy | Diabetic peripheral neuropathy (disorder) | NEUROPATHY DIABETIC PERIPHERAL | diabetic neuropathy peripheral | diabetic peripheral neuropathy | diabetic peripheral neuropathy (diagnosis) | peripheral diabetic neuropathy SNOMEDCT_US_2016_09_01:424736006 C0268494 Oculocutaneous albinism type 1 ALBINISM I | ALBINISM, OCULOCUTANEOUS, TYPE IA | ATN | Albinism 1 | Albinism I | Albinism, Oculocutaneous, Type IA | OCA1 | OCA1 - Tyrosinase-negative oculocutaneous albinism | OCA1A | OCULOCUTANEOUS ALBINISM, TYPE I | OCULOCUTANEOUS ALBINISM, TYROSINASE-NEGATIVE | Oculocutaneous Albinism, Type I | Oculocutaneous Albinism, Tyrosinase-Negative | Oculocutaneous albinism ty-neg | Oculocutaneous albinism type 1 | Oculocutaneous albinism type 1A | Oculocutaneous albinism, tyrosinase negative | Tyrosinase negative oculocutaneous albinism | Tyrosinase-negative oculocutaneous albinism | Tyrosinase-negative oculocutaneous albinism (diagnosis) | Tyrosinase-negative oculocutaneous albinism (disorder) | Tyrosinase-related oculocutaneous albinism | oculocutaneous albinism type 1a | oculocutaneous albinism type 1a (diagnosis) | oculocutaneous albinism tyrosinase-negative ICD10CM_2017:E70.320|MSH2017_2016_08_12:C537728|OMIM2016_04_17:203100|OMIM2016_04_17:606933|SNOMEDCT_US_2016_09_01:6483008 C1834057 Vertebral hyperostosis Vertebral hyperostosis HPO2016_07_04:Excessive growth of the bones of the vertebral bodies. [HPO:curators] HPO2016_07_04:HP:0008442|OMIM2016_04_17:MTHU016617 C4225666 Chromosome 15q14 deletion syndrome CHROMOSOME 15q14 DELETION SYNDROME OMIM2016_04_17:616898 C1848446 C1-c2 subluxation C1-C2 subluxation HPO2016_07_04:A partial dislocation of the atlantoaxial joints. [HPO:curators] HPO2016_07_04:HP:0003320|OMIM2016_04_17:MTHU008698 C2033037 Pancreatic vipoma Pancreatic VIP Producing NET | Pancreatic VIP Producing Neoplasm | Pancreatic VIP Producing Tumor | Pancreatic VIP-Producing Neuroendocrine Tumor | Pancreatic Vasoactive Intestinal Peptide Producing Neoplasm | Pancreatic Vasoactive Intestinal Peptide Producing Tumor | Pancreatic Vipoma | VIPoma of pancreas | VIPoma of pancreas (diagnosis) NCI2016_02D:A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis. | NCI2016_02D:A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome. C0025229 Melioidosis Burkholderia pseudomallei infection | Infection due to Burkholderia pseudomallei | Infection due to Malleomyces pseudomallei | Infection due to Pseudomonas pseudomallei | Infection due to Pseudomonas pseudomallei NOS | Infection due to Whitmore's bacillus | Infection due to malleomyces pseudomallei | MELIOIDOSIS | Malleomyces pseudomallei; infection | Melioidoses | Melioidosis | Melioidosis (disorder) | Melioidosis [Disease/Finding] | Melioidosis, unspecified | PSEUDOCHOLERA | Pseudoglanders | Pseudoglanders (disorder) | Pseudomonas pseudomallei infection | Pseudomonas; infection, pseudomallei | Pseudomonas; pseudomallei | STANTON DISEASE | Stanton | Stanton's disease | WHITMORE DISEASE | Whitmore | Whitmore's disease | [X]Melioidosis, unspecified | [X]Melioidosis, unspecified (disorder) | infection by Burkholderia pseudomallei | infection by Burkholderia pseudomallei (diagnosis) | infection by Malleomyces pseudomallei | infection by Malleomyces pseudomallei (diagnosis) | infection by Pseudomonas pseudomallei | infection by Pseudomonas pseudomallei (diagnosis) | infection by Whitmore's bacillus | infection by Whitmore's bacillus (diagnosis) | infection; Malleomyces pseudomallei | infection; Pseudomonas, pseudomallei | melioidosis | melioidosis (diagnosis) | melioidosis due to infection by Burkholderia pseudomallei | melioidosis due to infection by Whitmore's bacillus | melioidosis due to infection by malleomyces pseudomallei | melioidosis due to infection by pseudomonal pseudomallei | pseudomallei; Pseudomonas | stanton's disease MSH2017_2016_08_12:A disease of humans and animals that resembles GLANDERS. It is caused by BURKHOLDERIA PSEUDOMALLEI and may range from a dormant infection to a condition that causes multiple abscesses, pneumonia, and bacteremia. ICD10CM_2017:A24.9|ICD9CM_2014:025|MSH2017_2016_08_12:D008554|SNOMEDCT_US_2016_09_01:187306003|SNOMEDCT_US_2016_09_01:34458001|SNOMEDCT_US_2016_09_01:428111003 C1832348 Slow-growing hair Slow growing hair | Slow rate of hair growth | Slow speed of hair growth | Slow-growing hair HPO2016_07_04:Hair whose growth is slower than normal. [HPO:probinson] HPO2016_07_04:HP:0002217|OMIM2016_04_17:MTHU006024 C0040441 Broken teeth BT - Broken tooth | Broken teeth | Broken tooth | Chipped tooth | Crack | Fracture of Tooth | Fracture of tooth | Fracture of tooth (disorder) | Fracture, Tooth | Fracture;tooth/teeth | Fractured tooth | Fractures, Tooth | Teeth broken | Tooth Fracture | Tooth Fractures | Tooth Fractures [Disease/Finding] | Tooth fracture | broken teeth | broken tooth | broken tooth (diagnosis) | broken; tooth | chip tooth | chipped tooth | chipped tooth (symptom) | fracture of tooth or teeth | fracture tooth | fracture; tooth | fractured tooth | open wound of a tooth (broken) | teeth broken | teeth; broken | tooth chipped | tooth fracture | tooth fracture (physical finding) | tooth fractured | tooth fractures | tooth; fracture MSH2017_2016_08_12:Break or rupture of a tooth or tooth root. | NCI2016_02D:Broken tooth affecting any portion of tooth: root fracture, crown-root, broken tooth (crown fracture), chipped tooth. A crown fracture can involve the pulp. Tooth fracture sequelae range in severity from cosmetic defects to tooth death. Involvement of the pulp is a more important indicator of severity of tooth fracture than is the amount of the tooth affected. ICD10CM_2017:S02.5|MSH2017_2016_08_12:D014082|SNOMEDCT_US_2016_09_01:157372007|SNOMEDCT_US_2016_09_01:269353002|SNOMEDCT_US_2016_09_01:36202009 C1864964 Deafness, autosomal recessive 47 (disorder) DEAFNESS, AUTOSOMAL RECESSIVE 47 | DEAFNESS, AUTOSOMAL RECESSIVE 47 (disorder) | DFNB47 | Deafness, Autosomal Recessive 47 MSH2017_2016_08_12:C566498|OMIM2016_04_17:609946 C0456071 Perinatal skin disorder nos Disorder involving the integument of fetus OR newborn | Disorder involving the integument of fetus OR newborn (disorder) | Perinatal dermatological disorders | Perinatal skin disorder NOS | Perinatal skin disorder NOS (disorder) SNOMEDCT_US_2016_09_01:111474003|SNOMEDCT_US_2016_09_01:206556000 C0406645 Amyopathic dermatomyositis Amyopathic dermatomyositis | Dermatomyositis sine myositis | Dermatomyositis sine myositis (disorder) MSH2017_2016_08_12:C538250|SNOMEDCT_US_2016_09_01:238935002 C4011726 Myopathy, tubular aggregate, 1 MYOPATHY, TUBULAR AGGREGATE, 1 | TAM1 OMIM2016_04_17:160565|OMIM2016_04_17:605921 C1838979 Mitochondrial complex i deficiency MITOCHONDRIAL COMPLEX I DEFICIENCY | Mitochondrial complex I deficiency MSH2017_2016_08_12:C537475|OMIM2016_04_17:157655|OMIM2016_04_17:161015|OMIM2016_04_17:252010|OMIM2016_04_17:300078|OMIM2016_04_17:516000|OMIM2016_04_17:516001|OMIM2016_04_17:516002|OMIM2016_04_17:516003|OMIM2016_04_17:590010|OMIM2016_04_17:600532|OMIM2016_04_17:601445|OMIM2016_04_17:602141|OMIM2016_04_17:602694|OMIM2016_04_17:602985|OMIM2016_04_17:603839|OMIM2016_04_17:603846|OMIM2016_04_17:603848|OMIM2016_04_17:606934|OMIM2016_04_17:609653|OMIM2016_04_17:611776|OMIM2016_04_17:612360|OMIM2016_04_17:612638|OMIM2016_04_17:612911|OMIM2016_04_17:613621|OMIM2016_04_17:613622|OMIM2016_04_17:MTHU047303 C2677869 Hair shaft abnormalities Abnormality of the hair shaft | Hair shaft abnormalities HPO2016_07_04:HP:0001595|OMIM2016_04_17:MTHU022691 C3890429 Liquid tumor Blood Cancer | Liquid Tumor NCI2016_02D:A malignant tumor that originates from myeloid or lymphoid cells i.e., leukemias and lymphomas. C0265275 Jeune thoracic dystrophy ASPHYXIATING THORACIC DYSTROPHY 1 | ATD1 | Asphyxiating Thoracic Chondrodystrophy | Asphyxiating Thoracic Dysplasia | Asphyxiating Thoracic Dystrophy | Asphyxiating Thoracic Dystrophy (ATD) | Asphyxiating Thoracic Dystrophy 1 | Asphyxiating thoracic dysplasia | Asphyxiating thoracic dysplasia (disorder) | Asphyxiating thoracic dystrophy | Chondroectodermal dysplasia-like syndrome | Infantile thoracic dystrophy | JEUNE SYNDROME | Jeune | Jeune Syndrome | Jeune Thoracic Dysplasia | Jeune Thoracic Dystrophy | Jeune syndrome | Jeune thoracic dysplasia | Jeune thoracic dystrophy | Jeune thoracic dystrophy (disorder) | Jeune's syndrome | Jeune's thoracic dystrophy syndrome | SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY | SRTD1 | THORACIC-PELVIC-PHALANGEAL DYSTROPHY | Thoracic Asphyxiant Dystrophy | Thoracic pelvic phalangeal dystrophy | Thoracic-Pelvic-Phalangeal Dystrophy | asphyxiating thoracic chondrodystrophy | asphyxiating thoracic dysplasia | asphyxiating thoracic dystrophy | asphyxiating thoracic dystrophy (ATD) | chondroectodermal dysplasia-like syndrome | infantile thoracic dystrophy | jeune syndrome | jeune thoracic dystrophy | jeune's syndrome | jeunes syndrome | thoracic asphyxiant dystrophy | thoracic-pelvic-phalangeal dystrophy JABL99:Congenital polychondrodystrophy in which narrow and rigid thoracic cage results in asphyxia, ranging in severity from mild cases with minimal respiratory symptoms to fatal asphyxiation. Skeletal dysplasia is not limited to the thoracic structures and may also involve other organs. The affected infants exhibit short-limb dwarfism, ribs, small thoracic cage, and irregular epiphyses and metaphyses. A variety of other abnormalities may be occur, including intestinal malabsorption, renal and hepatic changes, eye abnormalities, hydrocephalus, and infrequent mental retardation. Some cases exhibit ectodermal dysplasia manifestations, such as sparse hair, faulty dentition, and hypoplastic skin over the hands. The syndrome represents a spectrum of disorders with a wide variability in clinical and radiological manifestations. | NCI2016_02D:A rare autosomal recessive inherited syndrome characterized by a narrow thorax, micromelia, and respiratory disturbances which may lead to asphyxiation. It may be associated with bilateral microcystic renal disease which may lead to renal failure. MSH2017_2016_08_12:C537571|OMIM2016_04_17:208500|SNOMEDCT_US_2016_09_01:240188008|SNOMEDCT_US_2016_09_01:75049004 C3280798 Cutis laxa, autosomal recessive, type ib ARCL1B | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | cutis laxa autosomal recessive type ib | cutis laxa type IB | cutis laxa type IB (diagnosis) OMIM2016_04_17:604633|OMIM2016_04_17:614437 C0399368 Amelogenesis imperfecta, type ib AI1B | AIH2 | AMELOGENESIS IMPERFECTA, HYPOPLASTIC LOCAL, AUTOSOMAL DOMINANT | AMELOGENESIS IMPERFECTA, TYPE IB | Amelogenesis Imperfecta, Hypoplastic Local, Autosomal Dominant | Amelogenesis Imperfecta, Type IB | Amelogenesis imperfecta - hypoplastic autosomal dominant - local | Amelogenesis imperfecta - hypoplastic autosomal dominant - local (disorder) | ENAMEL HYPOPLASIA, HEREDITARY LOCALIZED | Enamel Hypoplasia, Hereditary Localized MSH2017_2016_08_12:C562879|OMIM2016_04_17:104500|OMIM2016_04_17:606585|SNOMEDCT_US_2016_09_01:234961008 C4085243 Mend syndrome MALE EBP DISORDER WITH NEUROLOGIC DEFECTS | MEND | MEND SYNDROME OMIM2016_04_17:300205|OMIM2016_04_17:300960 C0085411 Angiodysplasia ANGIODYSPLASIA | Angiodysplasia | Angiodysplasia (morphologic abnormality) | Angiodysplasia NOS | Angiodysplasia [Disease/Finding] | Angiodysplasias | angiodysplasia | angiodysplasias MSH2017_2016_08_12:Acquired degenerative dilation or expansion (ectasia) of normal BLOOD VESSELS, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the GASTROINTESTINAL TRACT leading to GASTROINTESTINAL HEMORRHAGE and ANEMIA. MSH2017_2016_08_12:D016888|OMIM2016_04_17:MTHU006470|SNOMEDCT_US_2016_09_01:71072006 C1266166 Intracortical osteosarcoma Central Osteosarcoma | Central osteosarcoma | Central osteosarcoma (morphologic abnormality) | Conventional Central Osteosarcoma | Conventional Osteosarcoma | Conventional central osteosarcoma | Intracortical Osteogenic Sarcoma | Intracortical Osteosarcoma | Intracortical osteosarcoma | Intracortical osteosarcoma (morphologic abnormality) | Medullary Osteosarcoma | Medullary osteosarcoma NCI2016_02D:A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis. SNOMEDCT_US_2016_09_01:128770002|SNOMEDCT_US_2016_09_01:128774006 C0580454 Serum testosterone level abnormal Abnormal serum testosterone level | Serum testosterone level abnormal | Serum testosterone level abnormal (finding) | Testosterone level abnormal HPO2016_07_04:An anomalous concentration of testosterone in the blood. [] HPO2016_07_04:HP:0030087|SNOMEDCT_US_2016_09_01:166458009 C0264903 Premature ventricular complex multifocal Multifocal PVCs | Multifocal PVCs (disorder) | Multifocal premature ventricular complexes | Multifocal premature ventricular complexes (disorder) | PREMATURE VENTRICULAR COMPLEX MULTIFOCAL | PVCs, multifocal | multifocal premature ventricular contractions | multifocal premature ventricular contractions (diagnosis) | multifocal pvc | multifocal pvcs | premature ventricular contractions multifocal SNOMEDCT_US_2016_09_01:10626002 C4020873 Infratentorial atrophy Infratentorial atrophy HPO2016_07_04:HP:0001272 C1332574 Bone angioendothelial sarcoma Bone Angioendothelial Sarcoma | Bone Angiosarcoma | Bone Hemangioendothelial Sarcoma | Bone Hemangiosarcoma | Osseous Angioendothelial Sarcoma | Osseous Angiosarcoma | Osseous Hemangiosarcoma | angiosarcoma of bone | angiosarcoma of bone (diagnosis) | hemangioendothelial sarcoma of bone | hemangioendothelial sarcoma of bone (diagnosis) | hemangiosarcoma of bone | hemangiosarcoma of bone (diagnosis) NCI2016_02D:A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation. C1848736 Distal amyotrophy Amyotrophy of distal limb muscles | Atrophy of distal muscles | Distal amyotrophy | Distal amyotrophy, especially of hands and feet | Distal amyotrophy, especially of the hands and feet | Distal limb muscle atrophy | Distal lower and upper limb muscle atrophy | Distal muscle atrophy | Distal muscle atrophy, upper and lower limbs | Distal muscle degeneration | Distal muscle wasting | Distal muscular atrophy | Muscle atrophy, distal | Muscle atrophy, distal upper and lower limbs | Muscle atrophy, distal, upper and lower limbs HPO2016_07_04:Muscular atrophy affecting muscles in the distal portions of the extremities. [HPO:curators] HPO2016_07_04:HP:0003693|OMIM2016_04_17:MTHU000342|OMIM2016_04_17:MTHU000679|OMIM2016_04_17:MTHU001118|OMIM2016_04_17:MTHU001142|OMIM2016_04_17:MTHU004325|OMIM2016_04_17:MTHU005172|OMIM2016_04_17:MTHU005496|OMIM2016_04_17:MTHU010386|OMIM2016_04_17:MTHU014492|OMIM2016_04_17:MTHU015561|OMIM2016_04_17:MTHU030370|OMIM2016_04_17:MTHU034995|OMIM2016_04_17:MTHU041537|OMIM2016_04_17:MTHU042191 C4021597 Delayed patellar ossification Delayed patellae ossification | Delayed patellar ossification HPO2016_07_04:Formation of bone in the patella later than normal. [HPO:probinson, pmid:6729496] HPO2016_07_04:HP:0006454 C0015668 Fat necrosis Cystosteatonecrosis | Cytosteatonecrosis | Fat Necroses | Fat Necrosis | Fat Necrosis [Disease/Finding] | Fat necrosis | Fat necrosis (disorder) | Fat necrosis (morphologic abnormality) | Fat necrosis NOS | Necrosis, Fat | Necrosis, fat | Necrosis;fat | Steatonecroses | Steatonecrosis | fat necrosis | fat necrosis (diagnosis) | fat; necrosis | fatty necrosis | necrosis; fat | steatonecrosis MSH2017_2016_08_12:A condition in which the death of adipose tissue results in neutral fats being split into fatty acids and glycerol. | NCI2016_NCI-GLOSS_1602D:A benign condition in which fat tissue in the breast or other organs is damaged by injury, surgery, or radiation therapy. The fat tissue in the breast may be replaced by a cyst or by scar tissue, which may feel like a round, firm lump. The skin around the lump may look red, bruised or dimpled. MSH2017_2016_08_12:D005218|SNOMEDCT_US_2016_09_01:238888007|SNOMEDCT_US_2016_09_01:79682009 C1867982 Keratoderma, palmoplantar, punctate type ii KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE II | Keratoderma, Palmoplantar, Punctate Type Ii | PALMOPLANTAR KERATODERMA, PUNCTATE TYPE II | POROKERATOSIS PUNCTATA PALMARIS ET PLANTARIS | PPKP2 | PPPP | Porokeratosis punctata palmaris et plantaris MSH2017_2016_08_12:C536338|OMIM2016_04_17:175860 C1861790 Hepatic vascular malformations Hepatic vascular malformations | Liver vascular malformations HPO2016_07_04:HP:0006576|OMIM2016_04_17:MTHU019085 C0007930 Chagas cardiomyopathy Cardiomyopathy in Chagas' Disease | Cardiomyopathy in Chagas' disease | Cardiomyopathy, Chagas | Cardiomyopathy, Chagas' | Cardiovascular Trypanosomiasis | Chagas Cardiomyopathy | Chagas Cardiomyopathy [Disease/Finding] | Chagas' Cardiomyopathy | Chagas' disease cardiomyopathy | Chagas' disease cardiomyopathy (disorder) | Chagas' disease with heart involvement | Chagas' disease with heart involvement (disorder) | Chagas; acute, cardiovascular (etiology) | Chagas; cardiovascular involvement (etiology) | Chagas; cardiovascular involvement (manifestation) | Chronic Chagas' Disease Cardiomyopathy | Trypanosomiasis, Cardiovascular | trypanosomiasis involving the heart | trypanosomiasis with cardiac involvement | trypanosomiasis with cardiac involvement (diagnosis) MSH2017_2016_08_12:A disease of the CARDIAC MUSCLE developed subsequent to the initial protozoan infection by TRYPANOSOMA CRUZI. After infection, less than 10% develop acute illness such as MYOCARDITIS (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced CHAGAS DISEASE include conduction defects (HEART BLOCK) and CARDIOMEGALY. | NCI2016_02D:A dilated cardiomyopathy caused by the protozoan Trypanosoma cruzi. Patients may present with heart block, congestive heart failure, or anginal symptoms. ICD9CM_2014:086.0|MSH2017_2016_08_12:D002598|SNOMEDCT_US_2016_09_01:186812009|SNOMEDCT_US_2016_09_01:998008 C4225187 Exercise intolerance, riboflavin-responsive EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE | RREI OMIM2016_04_17:616839 C0854359 Autoimmune endocrine disease insulin syndrome Insulin autoimmune syndrome | Insulin autoimmune syndrome (disorder) | autoimmune endocrine disease insulin syndrome | autoimmune insulin syndrome | autoimmune insulin syndrome (diagnosis) SNOMEDCT_US_2016_09_01:408539000 C0265345 Lymphedema distichiasis syndrome Distichiasis-lymphedema syndrome | Distichiasis-lymphedema syndrome (disorder) | Distichiasis-lymphoedema syndrome | Hereditary lymphedema-distichiasis syndrome | LYMPHEDEMA WITH DISTICHIASIS | LYMPHEDEMA-DISTICHIASIS SYNDROME | Lymphedema distichiasis syndrome | Lymphedema with distichiasis | Lymphedema-Distichiasis Syndrome MSH2017_2016_08_12:C537710|OMIM2016_04_17:153400|OMIM2016_04_17:602402|SNOMEDCT_US_2016_09_01:8634009 C1835927 Retinitis pigmentosa 32 (disorder) RETINITIS PIGMENTOSA 32 | RETINITIS PIGMENTOSA 32 (disorder) | RP32 | Retinitis Pigmentosa 32 MSH2017_2016_08_12:C563689|OMIM2016_04_17:609913 C0014818 Erythroplasia Erythroplakia | Erythroplakia (morphologic abnormality) | Erythroplakia, NOS | Erythroplasia | Erythroplasia [Disease/Finding] | Erythroplasia, NOS | Erythroplasias | erythroplakia | erythroplasia MSH2017_2016_08_12:A condition of the mucous membrane characterized by erythematous papular lesions. (Dorland, 27th ed) | NCI2016_02D:A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma. | NCI2016_NCI-GLOSS_1602D:An abnormal patch of red tissue that forms on mucous membranes in the mouth and may become cancer. Tobacco (smoking and chewing) and alcohol may increase the risk of erythroplakia. MSH2017_2016_08_12:D004919|SNOMEDCT_US_2016_09_01:189208007|SNOMEDCT_US_2016_09_01:71379006 C4014540 Microphthalmia, syndromic 14 MCOPS14 | MICROPHTHALMIA AND COLOBOMA, WITH OR WITHOUT RHIZOMELIC SKELETAL DYSPLASIA | MICROPHTHALMIA, SYNDROMIC 14 OMIM2016_04_17:604357|OMIM2016_04_17:615877 C0796154 Simpson-golabi-behmel syndrome, type 1 BULLDOG SYNDROME | Bulldog syndrome | DGSX | DYSPLASIA GIGANTISM SYNDROME, X-LINKED | Dysplasia gigantism syndrome, X-linked | GOLABI-ROSEN SYNDROME | Golabi-Rosen syndrome | Golabi-Rosen syndrome (GRS) | Mental Retardation-Overgrowth Syndrome | SDYS | SGBS | SGBS1 | SIMPSON DYSMORPHIA SYNDROME | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | Simpson Dysplasia Syndrome | Simpson Golabi Behmel Syndrome Type 1 | Simpson Syndrome | Simpson dysmorphia syndrome | Simpson dysmorphia syndrome (SDYS) | Simpson dysplasia syndrome | Simpson syndrome | Simpson-Golabi-Behmel (SGB) syndrome (SGBS) | Simpson-Golabi-Behmel Syndrome, Type 1 | Simpson-Golabi-Behmel syndrome | Simpson-Golabi-Behmel syndrome (disorder) | X-linked dysplasia-gigantism syndrome | X-linked dysplasia-gigantism syndrome (DGSX) | bulldog syndrome dysplasia-gigantism syndrome | mental retardation-overgrowth syndrome | simpson dysmorphia syndrome | simpson golabi behmel syndrome | simpson syndrome | simpson-golabi-behmel syndrome JABL99:An encephalo-tropho-schisis syndrome with pre- or postnatal overgrowth, coarse ("bulldog-like") facies with protruding jaw and tongue, occasional mental retardation, and congenital abnormalities of the extremities and other parts with variable expression. | NCI2016_02D:A rare, X-linked inherited syndrome caused by mutations in the GPC3 and GPC4 genes. It is characterized by pre-and postnatal overgrowth, coarse facial features, macrocephaly, macroglossia, congenital heart defects, and intellectual disability. MSH2017_2016_08_12:C537340|OMIM2016_04_17:300037|OMIM2016_04_17:312870|SNOMEDCT_US_2016_09_01:439143004 C0085293 Hepatitis e ET-NANBH | Enterically Transmitted Non A, Non B Hepatitis | Enterically transmitted non-A non-B hepatitis | Enterically-Transmitted Non-A, Non-B Hepatitis | Epidemic Non A, Non B Hepatitis | Epidemic Non-A, Non-B Hepatitis | Epidemic non-A non-B hepatitis | Faecal-oral non-A non-B hepatitis | Fecal-oral non-A non-B hepatitis | Hepatitides, Water-Borne | Hepatitis E | Hepatitis E [Disease/Finding] | Hepatitis E virus infection | Hepatitis, Viral, Non-A, Non-B, Enterically-Transmitted | Hepatitis, Water Borne | Hepatitis, Water-Borne | Viral hepatitis E | Viral hepatitis type E | Viral hepatitis type E (disorder) | Water-Borne Hepatitides | Water-Borne Hepatitis | e hepatitis | hepatitis E | hepatitis e | hepatitis; virus, type E MSH2017_2016_08_12:Acute INFLAMMATION of the LIVER in humans; caused by HEPATITIS E VIRUS, a non-enveloped single-stranded RNA virus. Similar to HEPATITIS A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission. MSH2017_2016_08_12:D016751|SNOMEDCT_US_2016_09_01:7111000119109 C2750824 Dystransthyretinemic euthyroidal hyperthyroxinemia DTTRH | DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA | DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA | Dystransthyretinemic Euthyroidal Hyperthyroxinemia | EUTHRYROIDAL HYPERTHYROXINEMIA 2 | HYPERTHYROXINEMIA, DYSPREALBUMINEMIC | HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC | Hyperthyroxinemia, Dysprealbuminemic | Hyperthyroxinemia, Dystransthyretinemic MSH2017_2016_08_12:C567719|OMIM2016_04_17:145680|OMIM2016_04_17:176300 C1858080 Retinal dystrophy, early onset severe RETINAL DYSTROPHY, EARLY-ONSET SEVERE | Retinal Dystrophy, Early Onset Severe MSH2017_2016_08_12:C565741|OMIM2016_04_17:248200|OMIM2016_04_17:601691 C0151313 Sensory neuropathy NEUROPATHY SENSORY | NEUROPATHY SENSORY PERIPHERAL | PERIPHERAL SENSORY NEUROPATHY | Peripheral Sensory Neuropathy | Peripheral neuropathy, sensory | Peripheral sensory neuropathy | Peripheral sensory neuropathy (diagnosis) | Sensory neuropathy | Sensory neuropathy (disorder) | Sensory neuropathy, peripheral | Sensory peripheral neuropathies | Sensory peripheral neuropathy | neuropathies sensory | peripheral neuropathy sensory | peripheral sensory disorder | peripheral sensory neuropathy | sensory neuropathy | sensory peripheral neuropathy CSP2006:functional disturbance or pathological change in the peripheral nervous system; sometimes limited to noninflammatory lesions as opposed to those of neuritis; etiology may be known or unknown. | HPO2016_07_04:Peripheral neuropathy affecting the sensory nerves. [HPO:curators] | NCI2016_02D:Inflammation or degeneration of the sensory nerves. | NCI2016_CTCAE_1602D:A disorder characterized by inflammation or degeneration of the peripheral sensory nerves. HPO2016_07_04:HP:0000763|OMIM2016_04_17:MTHU001836|OMIM2016_04_17:MTHU012964|OMIM2016_04_17:MTHU036268|SNOMEDCT_US_2016_09_01:95662005 C0021364 Male infertility INFERTILITY MALE | Infertility male | Infertility, Male | Infertility, Male [Disease/Finding] | Infertility, male | Infertility;M | MALE INFERTILITY DISORDERS | Male Infertility | Male infertility | Male infertility (disorder) | Male infertility (finding) | Male infertility NOS | Male infertility NOS (disorder) | Male infertility NOS (finding) | Male infertility, NOS | Male infertility, unspecified | infertility; male | male infertility | male infertility (diagnosis) MEDLINEPLUS_20151021:Infertility is a term doctors use if a man hasn't been able to get a woman pregnant after at least one year of trying. Causes of male infertility include
About a third of the time, infertility is because of a problem with the man. One third of the time, it is a problem with the woman. Sometimes no cause can be found.
If you suspect you are infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technology. Happily, many couples treated for infertility are able to have babies.
NIH: National Institute of Child Health and Human Development
| MSH2017_2016_08_12:The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility. HPO2016_07_04:HP:0003251|ICD10CM_2017:N46|ICD10CM_2017:N46.9|ICD9CM_2014:606|ICD9CM_2014:606.9|MSH2017_2016_08_12:D007248|OMIM2016_04_17:MTHU037362|SNOMEDCT_US_2016_09_01:155924001|SNOMEDCT_US_2016_09_01:198018002|SNOMEDCT_US_2016_09_01:2904007 C1334439 Adenoid cystic carcinoma of lung Adenocystic Carcinoma of Lung | Adenocystic Carcinoma of the Lung | Adenoid Cystic Carcinoma of Lung | Adenoid Cystic Carcinoma of the Lung | Lung Adenocystic Carcinoma | Lung Adenoid Cystic Carcinoma | Pulmonary Adenocystic Carcinoma | Pulmonary Adenoid Cystic Carcinoma | adenoid cystic carcinoma of lung | adenoid cystic carcinoma of lung (diagnosis) NCI2016_02D:A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain. C0030328 Panniculitis, nodular nonsuppurative Christian-Weber | Disease, Weber-Christian | Nodular Nonsuppurative Panniculitides | Nodular Nonsuppurative Panniculitis | Nodular non-suppurative febrile panniculitis | Nodular non-suppurative febrile panniculitis (disorder) | Nonsuppurative Panniculitides, Nodular | Nonsuppurative Panniculitis, Nodular | PANNICULITIS, NODULAR NONSUPPURATIVE | PFEIFFER-WEBER-CHRISTIAN SYNDROME | Panniculitides, Nodular Nonsuppurative | Panniculitis, Nodular Nonsuppurative | Panniculitis, Nodular Nonsuppurative [Disease/Finding] | Panniculitis, non-suppurative relapsing nodular | Relapsing febrile nodular nonsuppurative panniculitis | Relapsing febrile nodular nonsuppurative panniculitis (disorder) | Relapsing panniculitis | Relapsing panniculitis [Weber-Christian] | Systemic nodular panniculitis | WEBER CHRISTIAN DISEASE | WEBER-CHRISTIAN DISEASE | Weber - Christian disease | Weber Christian Disease | Weber Christian panniculitis | Weber-Christian | Weber-Christian Disease | Weber-Christian disease | Weber-Kindler syndrome | christian weber disease | disease weber christians | panniculitis relapsing | relapsing panniculitis | relapsing panniculitis (diagnosis) | weber christian disease | weber-christian disease MSH2017_2016_08_12:A form of panniculitis characterized by recurrent episodes of fever accompanied by the eruption of single or multiple erythematous subcutaneous nodules on the lower extremities. They normally resolve, but tend to leave depressions in the skin. The condition is most often seen in women, alone or in association with other disorders. ICD10CM_2017:M35.6|MSH2017_2016_08_12:D010201|SNOMEDCT_US_2016_09_01:203120002|SNOMEDCT_US_2016_09_01:203121003|SNOMEDCT_US_2016_09_01:33760009 C0039236 Tachycardia episodic Bouveret | Bouveret (-Hoffman) syndrome | Bouveret-Hoffman syndrome | Bouveret-Hoffmann syndrome | Bouveret-Hoffmann syndrome (disorder) | Essential paroxysmal tachyc. | Essential paroxysmal tachycardia | Essential paroxysmal tachycardia (finding) | Hoffmann-Bouveret | PAROXYSMAL TACHYCARDIA (NOS) | PT - Paroxysmal tachycardia | Paroxysmal Tachycardia | Paroxysmal Tachycardia by ECG Finding | Paroxysmal Tachycardia by EKG Finding | Paroxysmal Tachycardias | Paroxysmal tachycardia | Paroxysmal tachycardia (NOS) | Paroxysmal tachycardia (disorder) | Paroxysmal tachycardia NOS | Paroxysmal tachycardia NOS (disorder) | Paroxysmal tachycardia unspec. | Paroxysmal tachycardia unspecified | Paroxysmal tachycardia unspecified (disorder) | Paroxysmal tachycardia, NOS | Paroxysmal tachycardia, essential | Paroxysmal tachycardia, unspecified | TACHYCARDIA EPISODIC | TACHYCARDIA PAROXYSMAL | Tachycardia paroxysmal | Tachycardia paroxysmal NOS | Tachycardia, Paroxysmal | Tachycardia, Paroxysmal [Disease/Finding] | Tachycardia;paroxysmal | Tachycardias, Paroxysmal | episodic tachycardia | paroxysmal tachycardia | paroxysmal tachycardia (diagnosis) | paroxysmal; tachycardia | tachycardia paroxysmal | tachycardia; paroxysmal MSH2017_2016_08_12:Abnormally rapid heartbeats with sudden onset and cessation. | NCI2016_02D:An electrocardiographic finding of episodic tachycardia with abrupt onset and termination. HPO2016_07_04:HP:0006688|ICD10CM_2017:I47|ICD10CM_2017:I47.9|ICD9CM_2014:427.2|MSH2017_2016_08_12:D013614|SNOMEDCT_US_2016_09_01:12026006|SNOMEDCT_US_2016_09_01:195076006|SNOMEDCT_US_2016_09_01:195077002|SNOMEDCT_US_2016_09_01:195078007|SNOMEDCT_US_2016_09_01:195079004 C0600427 Cocaine dependence Addiction, Cocaine | Addiction;drug(s);cocaine | COCAINE DEPENDENCY | Cocaine Addiction | Cocaine Dependence | Cocaine addiction | Cocaine dependence | Cocaine dependence (disorder) | Cocaine dependence syndrome | Cocaine dependence, unspecified | Cocaine dependence, unspecified (disorder) | Cocaine dependence, unspecified use | Cocaine dependence-unspecified | Cocaine drug dependence NOS | Cocaine drug dependence NOS (disorder) | Cocaine type drug dependence | Cocaine type drug dependence (disorder) | Dependence on cocaine | Dependence, Cocaine | Dependences, Cocaine | Mental and behav dis due to use cocaine: dependence syndr | Mental and behavioral disorders due to use of cocaine, dependence syndrome | Mental and behavioral disorders due to use of cocaine: dependence syndrome | Mental and behavioural disorders due to use of cocaine, dependence syndrome | Mental and behavioural disorders due to use of cocaine: dependence syndrome | [X]Cocaine dependence syndrome | [X]Mental and behav dis due to use cocaine: dependence syndr | [X]Mental and behavioral disorders due to use of cocaine: dependence syndrome | [X]Mental and behavioral disorders due to use of cocaine: dependence syndrome (disorder) | [X]Mental and behavioural disorders due to use of cocaine: dependence syndrome | addiction cocaine | cocaine addiction | cocaine dependence | cocaine dependence (diagnosis) | cocaine; dependence | dependence cocaine | dependence; cocaine NCI2016_02D:A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance. ICD10CM_2017:F14.2|ICD9CM_2014:304.2|ICD9CM_2014:304.20|MSH2017_2016_08_12:D019970|SNOMEDCT_US_2016_09_01:191829009|SNOMEDCT_US_2016_09_01:191830004|SNOMEDCT_US_2016_09_01:191834008|SNOMEDCT_US_2016_09_01:192254002|SNOMEDCT_US_2016_09_01:286934009|SNOMEDCT_US_2016_09_01:31956009 C2939435 Hypertensive lower esophageal sphincter Hypertensive lower esophageal sphincter | Hypertensive lower esophageal sphincter (disorder) | Hypertensive lower oesophageal sphincter SNOMEDCT_US_2016_09_01:235630008 C0016548 Foreign body migration Foreign Body Migration | Foreign-Body Migration | Foreign-Body Migration [Disease/Finding] | Foreign-Body Migrations | Migration, Foreign-Body | Migrations, Foreign-Body MSH2017_2016_08_12:Migration of a foreign body from its original location to some other location in the body. MSH2017_2016_08_12:D005548 C0339789 Congenital deafness CONGENITAL HEARING LOSS | Congenital deafness | Congenital deafness (disorder) | Congenital deafness NOS | Congenital hearing loss | Congenital sensorineural deafness | DEAFNESS CONGENITAL | DEAFNESS, HEREDITARY | Deafness congenital | Deafness, congenital sensorineural | Deafness, sensorineural, congenital | Deafness;congenital | HEARING LOSS CONGENITAL | Hereditary deafness | congenital deafness | congenital deafness (diagnosis) | congenital hearing loss | congenital; deafness | deafness; congenital | hereditary deafness CSP2006:complete loss of the ability to hear from both ears since birth, regardless of causation. HPO2016_07_04:HP:0000365|ICD10CM_2017:H90.5|OMIM2016_04_17:MTHU015005|OMIM2016_04_17:MTHU027562|OMIM2016_04_17:MTHU042957|SNOMEDCT_US_2016_09_01:95828007 C0033975 Psychotic disorders ATYPICAL PSYCHOSIS | Atypical Psychoses | Atypical psychosis | Disorder, Psychotic | Disorders, Psychotic | General Psychoses | PSYCHOSES | PSYCHOSIS | PSYCHOSIS ATYPICAL | PSYCHOTIC DISORDER | PSYCHOTIC DISORDER NOS | Psychoses | Psychosis | Psychosis NOS | Psychosis, NOS | Psychosis, atypical | Psychotic | Psychotic Disorder | Psychotic Disorders | Psychotic Disorders [Disease/Finding] | Psychotic disorder | Psychotic disorder (disorder) | Psychotic disorder NOS | Psychotic disorder, NOS | Unspecified psychosis | [X] Psychosis NOS | [X]Psychosis NOS | atypical psychosis | atypical psychosis (diagnosis) | disorder; psychotic | mental disorder | psychoses | psychoses (diagnosis) | psychosis | psychosis nos | psychotic | psychotic disorder | psychotic disorder nos | psychotic disorders | psychotic; disorder AIR93:WHAT: Psychosis. Psychosis: a loss of contact with reality, a thought disorder, or a change of personality or behavior often associated with delusions, illusions, or hallucinations. WHY: Psychosis may occur in systemic lupus erythematosus, mixed connective tissue disease, or with the administration of steroids, cimetadine (Tagemet), or reserpine. HOW: A psychosis probably exists if a patient demonstrates one or more of the following major criteria: MAJOR CRITERIA LOSS OF CONTACT WITH REALITY -- evidenced by the misinterpretation of the environment as hostile when friendly or vice versa, generally causing bizarre responses to normal and usual environmental stimuli. THOUGHT DISTURBANCE -- evidenced by incoherence, marked illogical content, marked loose associations, or patient's admission of mental confusion and abnormal rate of mental activity. PERSONALITY/BEHAVIOR CHANGES -- characterized by rapid onset and reversals of previous behavior patterns, often observed by reliable family member or friend. The diagnosis is further strengthened by the presence of one or more of the following minor criteria: MINOR CRITERIA DELUSIONS -- firmly held beliefs that cannot be dissuaded by logical discussion; generally of a threatening, powerful, or grandiose nature. ILLUSIONS -- misperceptions of environmental stimuli, e.g. perceiving a person instead of an actual tree shadow. HALLUCINATIONS -- perceptions without environmental stimuli, e.g. hearing voices/noises or seeing a face/vision. REF | CSP2006:severest class of psychological disorders, characterized by one or more of severe affective disturbances, profound introspection, withdrawal from reality, hallucinations, or regression. | HPO2016_07_04:A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs. [HPO:curators] | MEDLINEPLUS_20151021:Psychotic disorders are severe mental disorders that cause abnormal thinking and perceptions. People with psychoses lose touch with reality. Two of the main symptoms are delusions and hallucinations. Delusions are false beliefs, such as thinking that someone is plotting against you or that the TV is sending you secret messages. Hallucinations are false perceptions, such as hearing, seeing, or feeling something that is not there.
Schizophrenia is one type of psychotic disorder. People with bipolar disorder may also have psychotic symptoms. Other problems that can cause psychosis include alcohol and some drugs, brain tumors, brain infections, and stroke.
Treatment depends on the cause of the psychosis. It might involve drugs to control symptoms and talk therapy. Hospitalization is an option for serious cases where a person might be dangerous to himself or others.
| MSH2017_2016_08_12:Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994) | MSHNOR2016:Forstyrrelser hvor det er et tap av egogrenser og en kraftig svekkelse av virkelighetsoppfatningen med vrangforestillinger eller fremtredende hallusinasjoner (Fra DSM-IV, 1994). | NCI2016_02D:A mental disorder characterized by personality change, impaired functioning, and loss of touch with reality. | NCI2016_CTCAE_1602D:A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor. | NCI2016_NCI-GLOSS_1602D:A severe mental disorder in which a person loses the ability to recognize reality or relate to others. The person is not able to cope with the demands of everyday life. Symptoms include being paranoid, having false ideas about what is taking place or who one is, and seeing, hearing, or feeling things that are not there. | NCI2016_NICHD_1602D:A mental state characterized by impaired reality which may include perceptual disturbances, abnormal beliefs and disorganized thinking. HPO2016_07_04:HP:0000709|ICD9CM_2014:290-299.99|ICD9CM_2014:298.9|MSH2017_2016_08_12:D011618|OMIM2016_04_17:MTHU002910|SNOMEDCT_US_2016_09_01:192347006|SNOMEDCT_US_2016_09_01:231483000|SNOMEDCT_US_2016_09_01:69322001 C1328349 Neuropathy ataxia and retinis pigmentosa NARP - Neurogenic muscle weakness, ataxia and retinitis pigmentosa | NARP SYNDROME | NARP syndrome | NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA | Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa | Neurogenic muscle weakness, ataxia and retinitis pigmentosa | Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) | Neuropathy ataxia and retinis pigmentosa | Neuropathy ataxia and retinitis pigmentosa | Neuropathy, Ataxia and Retinitis Pigmentosa (NARP syndrome) | Neuropathy, Ataxia, Retinitis Pigmentosa syndrome | Neuropathy, Ataxia, and Retinitis Pigmentosa | Neuropathy, ataxia, retinitis pigmentosa syndrome | neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome | neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome (diagnosis) MSH2017_2016_08_12:C537396|OMIM2016_04_17:516060|OMIM2016_04_17:551500|SNOMEDCT_US_2016_09_01:237984008 C0154874 Neuroretinitis Neuroretinitis | Neuroretinitis (disorder) | Neuroretinitis NOS | Papilloretinitis | neuroretinitis | neuroretinitis (diagnosis) ICD10CM_2017:H30.9|MSH2017_2016_08_12:D012173|SNOMEDCT_US_2016_09_01:410471004 C0544781 Cellulitis chronic CELLULITIS CHRONIC | Cellulitis, chronic | Chronic Diffuse Inflammations | Diffuse chronic inflammation | Diffuse chronic inflammation (morphologic abnormality) | Inflammation, chronic diffuse | cellulitis; chronic | chronic; cellulitis SNOMEDCT_US_2016_09_01:123632006 C0565822 Blind or low visn - both eyes Bilateral blindness | Blind or low vision - both eyes | Blind or low vision - both eyes (disorder) | Blind or low visn - both eyes SNOMEDCT_US_2016_09_01:155148009|SNOMEDCT_US_2016_09_01:267727004 C0020578 Hyperventilation HV - Hyperventilation | HYPERVENTILATION | Hyperventilated | Hyperventilating | Hyperventilation | Hyperventilation (finding) | Hyperventilation [Disease/Finding] | Hyperventilation, NOS | Hyperventilations | Overbreathing | Rapid breathing | [D]Hyperventilation | [D]Hyperventilation (context-dependent category) | [D]Hyperventilation (situation) | hyperventilate | hyperventilated | hyperventilates | hyperventilating | hyperventilation | hyperventilations | overbreathing HPO2016_07_04:Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. [HPO:probinson] | MSH2017_2016_08_12:A pulmonary ventilation rate faster than is metabolically necessary for the exchange of gases. It is the result of an increased frequency of breathing, an increased tidal volume, or a combination of both. It causes an excess intake of oxygen and the blowing off of carbon dioxide. | NCI2016_02D:Abnormally prolonged, rapid, and deep breathing. | NCI2016_FDA_1602D:Abnormally prolonged, rapid, and deep breathing. | NCI2016_NICHD_1602D:An increase in ventilation manifested by hypocapnea and respiratory alkalosis. HPO2016_07_04:HP:0002883|ICD10CM_2017:R06.4|ICD9CM_2014:786.01|MSH2017_2016_08_12:D006985|OMIM2016_04_17:MTHU041909|SNOMEDCT_US_2016_09_01:158372005|SNOMEDCT_US_2016_09_01:207050008|SNOMEDCT_US_2016_09_01:68978004 C1863204 Adult syndrome ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME | ADULT SYNDROME | ADULT syndrome | Acro-dermato-ungual-lacrimal-tooth syndrome | Pigment anomaly ectrodactyly hypodontia | Propping Zerres syndrome MSH2017_2016_08_12:C538052|OMIM2016_04_17:103285|OMIM2016_04_17:603273 C0021334 Infectious bovine rhinotracheitis Bovine Rhinotracheitides, Infectious | Bovine Rhinotracheitis, Infectious | IBR | Infectious Bovine Rhinotracheitides | Infectious Bovine Rhinotracheitis | Infectious Bovine Rhinotracheitis [Disease/Finding] | Infectious bovine rhinotracheitis | Infectious bovine rhinotracheitis (disorder) | Rednose | Rhinotracheitides, Infectious Bovine | Rhinotracheitis, Infectious Bovine | respiratory tract infection of cattle caused by bovine herpesvirus 1 (BHV-1) MSH2017_2016_08_12:A herpesvirus infection of CATTLE characterized by INFLAMMATION and NECROSIS of the mucous membranes of the upper RESPIRATORY TRACT. | MSHFRE2016:Infection chez les bovins due 脿 un virus herp猫s, caract茅ris茅e par une inflammation et une n茅crose des muqueuses des voies respiratoires sup茅rieures. MSH2017_2016_08_12:D007241|SNOMEDCT_US_2016_09_01:68686002 C3812410 Retinopathy of prematurity, stage 0 Retinopathy of Prematurity Stage 0 | Retinopathy of prematurity stage 0 | Retinopathy of prematurity stage 0 (finding) | Retinopathy of prematurity, stage 0 | retinopathy of prematurity stage 0 | retinopathy of prematurity stage 0 (diagnosis) NCI2016_02D:Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or immature. In Stage 0, there is no clear demarcation line between vascularized and non-vascularized retina. | NCI2016_NICHD_1602D:Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or immature. In Stage 0, there is no clear demarcation line between vascularized and non-vascularized retina. ICD10CM_2017:H35.11|ICD9CM_2014:362.22|SNOMEDCT_US_2016_09_01:124111000119102 C0205815 Epithelioid leiomyosarcomas Epithelioid Leiomyosarcoma | Epithelioid Leiomyosarcomas | Epithelioid leiomyosarcoma | Epithelioid leiomyosarcoma (morphologic abnormality) | Leiomyosarcoma, Epithelioid | Leiomyosarcomas, Epithelioid | epithelioid leiomyosarcoma | epithelioid leiomyosarcoma (diagnosis) NCI2016_02D:A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm. MSH2017_2016_08_12:D007890|SNOMEDCT_US_2016_09_01:42392001 C4020888 Epithelial corneal erosions Epithelial corneal erosions HPO2016_07_04:HP:0000495 C0007771 Intracranial arteriosclerosis Arterioscleroses, Intracranial | Arteriosclerosis, Intracranial | Intracranial Arterioscleroses | Intracranial Arteriosclerosis | Intracranial Arteriosclerosis [Disease/Finding] MSH2017_2016_08_12:Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS. MSH2017_2016_08_12:D002537 C1136019 Disputes and dissent Disputes and Dissent | Dissent and Disputes MSH2017_2016_08_12:Differences of opinion or disagreements that may arise, for example, between health professionals and patients or their families, or against a political regime. MSH2017_2016_08_12:D034462 C3553936 Peroxisome biogenesis disorder 4a (zellweger) PBD4A | PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) OMIM2016_04_17:601498|OMIM2016_04_17:614862 C1836256 Preeclampsia eclampsia 3 PEE3 | PREECLAMPSIA/ECLAMPSIA 3 | Preeclampsia Eclampsia 3 MSH2017_2016_08_12:C563725|OMIM2016_04_17:609403 C2675659 Body mass index quantitative trait locus 10 BMIQ10 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 | OBESITY, SUSCEPTIBILITY TO OMIM2016_04_17:607514 C0270790 Quadriparesis QUADRIPARESIS | Quadripareses | Quadriparesis | Quadriparesis (disorder) | Tetraparesis | quadriparesis | quadriparesis (physical finding) | tetraparesis | weakness in all four extremities as symptom | weakness in all four limbs | weakness in all four limbs (symptom) HPO2016_07_04:Weakness of all four limbs. [HPO:probinson] HPO2016_07_04:HP:0002273|MSH2017_2016_08_12:D011782|OMIM2016_04_17:MTHU005588|OMIM2016_04_17:MTHU016070|SNOMEDCT_US_2016_09_01:91327001 C2713319 Arylsulfatase a deficiency ARSA - Arylsulfatase A deficiency | ARSA - Arylsulphatase A deficiency | ARSA DEFICIENCY | ARSA Deficiencies | ARSA Deficiency | ARYLSULFATASE A DEFICIENCY | Arylsulfatase A Deficiencies | Arylsulfatase A Deficiency | Arylsulfatase A deficiency | Arylsulfatase A deficiency (disorder) | Arylsulphatase A deficiency | Cerebroside Sulfatase Deficiencies | Cerebroside Sulfatase Deficiency | Cerebroside sulfatase deficiency | Cerebroside sulphatase deficiency | Deficiencies, ARSA | Deficiencies, Arylsulfatase A | Deficiencies, Cerebroside Sulfatase | Deficiency of cerebroside-sulfatase | Deficiency of cerebroside-sulfatase (disorder) | Deficiency of cerebroside-sulphatase | Deficiency, ARSA | Deficiency, Arylsulfatase A | Deficiency, Cerebroside Sulfatase | Severe deficiency of arylsulfatase | Severe deficiency of arylsulphatase | Sulfatase Deficiencies, Cerebroside | Sulfatase Deficiency, Cerebroside | arylsulfatase A deficiency MSH2017_2016_08_12:D007966|OMIM2016_04_17:250100|SNOMEDCT_US_2016_09_01:238031009|SNOMEDCT_US_2016_09_01:3621006|SNOMEDCT_US_2016_09_01:66521008 C0578878 Inflammation of large intestine Inflammation of large intestine | Inflammation of large intestine (disorder) | Inflammation of the large intestine HPO2016_07_04:HP:0002037|SNOMEDCT_US_2016_09_01:302168000 C0025268 Multiple endocrine neoplasia type 2a Familial chromaffinomatosis | MEA 2a | MEA II | MEA IIa | MEA Type 2a | MEA Type II | MEA syndrome, type IIa | MEA, type 2 | MEN 2 | MEN 2A | MEN 2A - Multiple endocrine neoplasia syndrome type 2A | MEN 2A Syndrome | MEN 2A syndrome | MEN 2a | MEN II | MEN IIa | MEN Type 2a | MEN Type II | MEN, type 2 | MEN-2A Syndrome | MEN-2A Syndromes | MEN2A | MEN2a | MULTIPLE ENDOCRINE NEOPLASIA TYPE II | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | Multiple Endocrine Adenomatosis Type 2A | Multiple Endocrine Adenomatosis Type 2a | Multiple Endocrine Adenomatosis Type II | Multiple Endocrine Adenomatosis, Type II | Multiple Endocrine Neoplasia Type 2 | Multiple Endocrine Neoplasia Type 2A | Multiple Endocrine Neoplasia Type 2a | Multiple Endocrine Neoplasia Type 2a [Disease/Finding] | Multiple Endocrine Neoplasia Type II | Multiple Endocrine Neoplasia, Type II | Multiple Endocrine Neoplasia, Type IIa | Multiple Endocrine Neoplasms Type 2a | Multiple endocrine adenomatosis Type IIa | Multiple endocrine adenomatosis, type 2 | Multiple endocrine adenomatosis, type IIa | Multiple endocrine neoplasia Type 2A | Multiple endocrine neoplasia Type IIA | Multiple endocrine neoplasia [MEN] type IIA | Multiple endocrine neoplasia syndrome type 2A | Multiple endocrine neoplasia type 2A | Multiple endocrine neoplasia, type 2 | Multiple endocrine neoplasia, type 2 (disorder) | Neoplasia, Multiple Endocrine Type 2a | Neoplasms, Multiple Endocrine Type 2a | PHEOCHROMOCYTOMA AND AMYLOID-PRODUCING MEDULLARY THYROID CARCINOMA | PTC SYNDROME | PTC syndrome | Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma | Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma | SIPPLE SYNDROME | Sipple Syndrome | Sipple syndrome | Sipple's syndrome | Sipple's syndrome (diagnosis) | men type 2 | men type ii | multiple endocrine neoplasia type 2A (MEN 2A) | sipple syndrome | sipple's syndrome | type IIa multiple endocrine neoplasia | type IIa multiple endocrine neoplasia (diagnosis) MSH2017_2016_08_12:A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease. | NCI2016_02D:Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia. ICD10CM_2017:E31.22|ICD9CM_2014:258.02|MSH2017_2016_08_12:D018813|OMIM2016_04_17:164761|OMIM2016_04_17:171400|SNOMEDCT_US_2016_09_01:61808009 C0920349 Sponastrime SPONASTRIME | SPONASTRIME (SPOndylar changes-NAsal anomaly-STRIated-MEtaphyses) | Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome | short limb dwarfism-saddle nose-spinal alterations-metaphyseal striation syndrome | spondylar and nasal alterations-striated metaphyses syndrome JABL99:Short limb dwarfism, facial dysmorphism, striated metaphyses, saddle nose, and large head with frontal bossing. Normal intelligence was originally observed in the original report but severe mental retardation was reported in subsequent findings. | NCI2016_02D:A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation. C0016064 Fibrous dysplasia, monostotic Dysplasia, Monostotic Fibrous | Dysplasia, fibrous, monostotic | Dysplasias, Monostotic Fibrous | Fibrous Dysplasia, Monostotic | Fibrous Dysplasia, Monostotic [Disease/Finding] | Fibrous Dysplasias, Monostotic | Fibrous dysplasia (monostotic) | Fibrous dysplasia (monostotic), site unspecified | Fibrous dysplasia (monostotic), unspecified site | Localised osteitis fibrosa | Localized osteitis fibrosa | Monostotic Fibrous Dysplasia | Monostotic Fibrous Dysplasia of Bone | Monostotic Fibrous Dysplasias | Monostotic dysplasia | Monostotic fibrous dysplasia | Monostotic fibrous dysplasia (disorder) | Monostotic fibrous dysplasia [dup] (disorder) | Osteitis fibrosa circumscripta | dysplasia; fibrous, monostotic | fibrosa; osteitis, circumscripta | fibrous; dysplasia, monostotic | monostotic fibrous dysplasia | monostotic fibrous dysplasia (diagnosis) | monostotic; dysplasia, fibrous | monostotic; fibrous dysplasia | osteitis; fibrosa, circumscripta HPO2016_07_04:Fibrous dysplasia of the bones were lesions are localized in only one bone. [HPO:sdoelken] | MSH2017_2016_08_12:FIBROUS DYSPLASIA OF BONE involving only one bone. HPO2016_07_04:HP:0010736|ICD10CM_2017:M85.0|ICD10CM_2017:M85.00|MSH2017_2016_08_12:D005358|SNOMEDCT_US_2016_09_01:203469008|SNOMEDCT_US_2016_09_01:89859004 C2939153 Chronic rheumatic mitral valve disorder Chronic rheumatic mitral valve | Chronic rheumatic mitral valve (disorder) | chronic rheumatic mitral valve disorder | chronic rheumatic mitral valve disorder (diagnosis) | mitral valve disorder rheumatic, chronic SNOMEDCT_US_2016_09_01:155276006|SNOMEDCT_US_2016_09_01:266278002|SNOMEDCT_US_2016_09_01:286947004 C0154936 Pupillary abnormality Abnormal pupil | Abnormal pupil (finding) | Abnormal pupils | Abnormality of the pupil | Pupillary abnormalities | Pupillary abnormality | Pupillary abnormality NOS | Pupillary abnormality NOS (disorder) | pupil abnormality | pupil abnormality (diagnosis) HPO2016_07_04:An abnormality of the pupil. [HPO:probinson] HPO2016_07_04:HP:0000615|ICD10CM_2017:H21.56|ICD9CM_2014:364.75|SNOMEDCT_US_2016_09_01:155204008|SNOMEDCT_US_2016_09_01:193524002|SNOMEDCT_US_2016_09_01:267749005|SNOMEDCT_US_2016_09_01:274093008 C0393584 Benign hereditary chorea BCH | BHC | Benign Hereditary Chorea | Benign Hereditary Choreas | Benign hereditary chorea | Benign hereditary chorea (disorder) | CHOREA, BENIGN HEREDITARY | Chorea, Benign Hereditary | Choreas, Benign Hereditary | HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA | Hereditary Chorea, Benign | Hereditary Choreas, Benign | Hereditary Progressive Chorea Without Dementia MSH2017_2016_08_12:D002819|OMIM2016_04_17:118700|OMIM2016_04_17:600635|SNOMEDCT_US_2016_09_01:230306001 C0035828 Romano-ward syndrome LONG QT SYNDROME 1 | LQT1 | LQT1 syndrome | LQT1 syndrome (diagnosis) | Long QT Syndrome 1 | Long QT Syndrome Type 1 | ROMANO-WARD SYNDROME | RWS | Romano Ward Syndrome | Romano Ward syndrome | Romano-Ward Syndrome | Romano-Ward Syndrome [Disease/Finding] | Romano-Ward syndrome | Romano-Ward syndrome (disorder) | Syndrome, Romano-Ward | Syndrome, Ward-Romano | VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVAL | Ventricular Fibrillation with Prolonged QT Interval | WARD-ROMANO SYNDROME | WRS | Ward Romano Syndrome | Ward-Romano Syndrome | romano ward syndrome | romano-ward syndrome | ward-romano syndrome MSH2017_2016_08_12:A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL. | NCI2016_02D:An autosomal dominant form of long QT syndrome caused by mutations in the KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A, and ANK2 genes. It is manifested with arrhythmias. MSH2017_2016_08_12:D029597|OMIM2016_04_17:192500|OMIM2016_04_17:607542|SNOMEDCT_US_2016_09_01:20852007 C2931501 Microphthalmia associated with colobomatous cyst Microphthalmia associated with colobomatous cyst | Microphthalmos bilateral, colobomatous orbital cyst MSH2017_2016_08_12:C537463 C0268642 Histidinuria renal tubular defect HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT | High urine histidine levels | Histidine transport defect | Histidine transport defect (disorder) | Histidinuria | Histidinuria due to a Renal Tubular Defect | Histidinuria renal tubular defect | Hyperhistidinuria | Renal histidinuria | histidinuria HPO2016_07_04:An increased concentration of histidine in the urine. [HPO:probinson, pmid:18901181, pmid:20240447] HPO2016_07_04:HP:0002927|MSH2017_2016_08_12:C538321|OMIM2016_04_17:235830|SNOMEDCT_US_2016_09_01:78311009 C4021418 Absent proximal phalanx of thumb Absent innermost thumb bone | Absent ossification/absent proximal thumb phalanx | Absent proximal phalanx of thumb | Aplasia of the proximal phalanx of the thumb HPO2016_07_04:Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:probinson] HPO2016_07_04:HP:0009637 C0399572 Hypoplasia of mandibular condyle Decreased size of condylar process of mandible | Decreased size of mandibular condyle | Hypoplasia of condylar process of mandible | Hypoplasia of mandibular condyle | Hypoplasia of mandibular condyle (disorder) | Hypoplasia of subcondylar region of mandible | Mandibular condylar hypoplasia | Mandibular condyle hypoplasia | Small mandibular condyle HPO2016_07_04:HP:0007628|OMIM2016_04_17:MTHU005406|SNOMEDCT_US_2016_09_01:235120003 C0700623 Familial hyperlipoproteinemia Familial hyperlipoproteinaemia | Familial hyperlipoproteinemia | Familial hyperlipoproteinemia (disorder) | familial hyperlipoproteinemia CSP2006:group of disorders genetically distinct from the other inherited hyperlipidemias classified on the basis of type I through V phenotypes; see narrower terms. SNOMEDCT_US_2016_09_01:238038003 C0338715 Drug-induced depressive state Depressive state induced by drugs | Drug-induced depression | Drug-induced depressive state | Drug-induced depressive state (disorder) | Drug-induced organic affective syndrome SNOMEDCT_US_2016_09_01:191495003 C0004622 Bacterial infection, unspecified, in conditions classified elsewhere and of unspecified site Bacterial infection in conditions classified elsewhere and of unspecified site | Bacterial infection, unspecified, in conditions classified elsewhere and of unspecified site ICD9CM_2014:041|ICD9CM_2014:041.9 C0521518 Muscle spasms of head and neck Muscle spasms of head AND/OR neck | Muscle spasms of head AND/OR neck (disorder) | Muscle spasms of head and neck SNOMEDCT_US_2016_09_01:95418008 C0749242 Systolic murmur new onset SYSTOLIC MURMUR NEW ONSET C0751527 Adult stuttering Adult Stuttering | Stuttering, Adult | adult stuttering | adults stutter | adults stuttering MSH2017_2016_08_12:D013342 C0014371 Enterotoxemia Enterotoxaemia | Enterotoxemia | Enterotoxemia (disorder) | Enterotoxemia [Disease/Finding] | Enterotoxemias MSH2017_2016_08_12:Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces "struck", and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease. MSH2017_2016_08_12:D004767|SNOMEDCT_US_2016_09_01:370514003 C1859235 Intrahepatic biliary dysgenesis Intrahepatic biliary dysgenesis HPO2016_07_04:HP:0001401|OMIM2016_04_17:MTHU013970 C0263353 Prurigo nodularis Hyde's disease | Nodular prurigo | PRURIGO NODULARIS | Prurigo Nodularis | Prurigo nodularis | Prurigo nodularis (disorder) | hyde's disease | nodular; prurigo | prurigo nodularis | prurigo nodularis (diagnosis) | prurigo; nodular ICD10CM_2017:L28.1|SNOMEDCT_US_2016_09_01:63501000 C0741026 Angina atypical ANGINA ATYPICAL | Atypical Angina | Atypical angina | Atypical angina (disorder) | atypical angina pectoris | atypical angina pectoris (diagnosis) NCI2016_02D:Angina pectoris which does not have associated classical symptoms of chest pain. Symptoms may include weakness, nausea, or sweating. SNOMEDCT_US_2016_09_01:371807002 C1319018 Asthmatic bronchitis Asthma/bronchitis | Asthmatic bronchitis | Asthmatic bronchitis (disorder) | Asthmatic bronchitis NOS | Asthmatic bronchitis, NOS | BRONCHITIS ASTHMATIC | Bronchitis asthmatic | Bronchitis, asthmatic | Bronchitis;asthmatic | Bronchitis;wheezy | Wheezy bronchitis | asthma bronchitis | asthmatic bronchitis | asthmatic bronchitis (diagnosis) | bronchitis asthma | bronchitis asthmatic | wheezy bronchitis ICD10CM_2017:J45.90|SNOMEDCT_US_2016_09_01:195939005|SNOMEDCT_US_2016_09_01:21341004|SNOMEDCT_US_2016_09_01:278517007|SNOMEDCT_US_2016_09_01:405944004 C0393760 Trouble falling asleep Cannot get off to sleep | Difficulty falling asleep | Difficulty getting to sleep | Difficulty in sleep initiation | Initial Insomnia | Initial insomnia | Initial insomnia (disorder) | Initial insomnia (finding) | Insomnia, vesperal | Trouble falling asleep | Vesperal insomnia | difficulty falling asleep | difficulty falling asleep (symptom) | initial insomnia | trouble falling asleep SNOMEDCT_US_2016_09_01:162202001|SNOMEDCT_US_2016_09_01:59050008 C0079683 Herlitz disease Bullosa Letali, Epidermolysis | Bullosa Letalis, Epidermolysis | Bullosa, Herlitz-Pearson-Type Epidermolysis | Disease, Herlitz | Disease, Herlitz's | EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE | EPIDERMOLYSIS BULLOSA LETALIS | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ-PEARSON TYPE | Epidermolysis Bullosa Junctionalis, Herlitz Type | Epidermolysis Bullosa Letali | Epidermolysis Bullosa Letalis | Epidermolysis Bullosa, Herlitz-Pearson-Type | Epidermolysis Bullosa, Junctional, Herlitz Type | Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type | Epidermolysis bullosa hereditaria letalis | Epidermolysis bullosa letalis | Epidermolysis bullosa, junctional Herlitz-Pearson type | HERLITZ-PEARSON-TYPE EPIDERMOLYSIS BULLOSA | Herlitz | Herlitz Disease | Herlitz Pearson Type Epidermolysis Bullosa | Herlitz syndrome | Herlitz' syndrome | Herlitz's Disease | Herlitz's disease | Herlitz-Pearson Type Epidermolysis Bullosa | Herlitz-Pearson-Type Epidermolysis Bullosa | Herlitzs Disease | JEB-HERLITZ TYPE | Junctional epidermolysis bullosa gravis of Herlitz | Junctional epidermolysis bullosa gravis of Herlitz (disorder) | Junctional epidermolysis bullosa, lethal type, Herlitz | Letali, Epidermolysis Bullosa | Letalis, Epidermolysis Bullosa | Lethal Junctional Epidermolysis Bullosa | bullosa; epidermolysis, letalis | epidermolysis bullosa letalis (diagnosis) | epidermolysis; bullosa, letalis ICD10CM_2017:Q81.1|MSH2017_2016_08_12:D016109|OMIM2016_04_17:150292|OMIM2016_04_17:150310|OMIM2016_04_17:226700|OMIM2016_04_17:600805|SNOMEDCT_US_2016_09_01:205586002|SNOMEDCT_US_2016_09_01:254195000|SNOMEDCT_US_2016_09_01:400140006|SNOMEDCT_US_2016_09_01:76905008|SNOMEDCT_US_2016_09_01:79855003 C1858028 Wolfram syndrome 2 WFS2 | WOLFRAM SYNDROME 2 | Wolfram Syndrome 2 MSH2017_2016_08_12:C565733|OMIM2016_04_17:604928|OMIM2016_04_17:611507 C3281046 Retinitis pigmentosa 64 RETINITIS PIGMENTOSA 64 | RP64 OMIM2016_04_17:614477|OMIM2016_04_17:614500 C1862761 Increased hepatocellular carcinoma risk Increased hepatocellular carcinoma risk | Increased risk of hepatocellular carcinoma HPO2016_07_04:HP:0001402|OMIM2016_04_17:MTHU022499|OMIM2016_04_17:MTHU043229 C0153504 Cancer mediastinal Cancer of Mediastinum | Cancer of the Mediastinum | Cancer, Mediastinal | Cancer, Mediastinum | Cancers, Mediastinal | Cancers, Mediastinum | Mal neo mediastin,part uns | Malignant Mediastinal Neoplasm | Malignant Mediastinal Neoplasm NOS | Malignant Mediastinal Tumor | Malignant Neoplasm of Mediastinum | Malignant Neoplasm of the Mediastinum | Malignant Tumor of Mediastinum | Malignant Tumor of the Mediastinum | Malignant mediastinal neoplasm | Malignant mediastinal neoplasm NOS | Malignant mediastinal tumor | Malignant mediastinal tumour | Malignant neoplasm of mediastinum | Malignant neoplasm of mediastinum, NOS | Malignant neoplasm of mediastinum, part unspecified | Malignant tumor of mediastinum | Malignant tumor of mediastinum (disorder) | Malignant tumour of mediastinum | Mediastinal Cancer | Mediastinal Cancers | Mediastinal neoplasms malignant | Mediastinum Cancer | Mediastinum Cancers | [X]Mal neo mediastin,part uns | [X]Malignant neoplasm of mediastinum, part unspecified | [X]Malignant neoplasm of mediastinum, part unspecified (disorder) | cancer mediastinal | malignant neoplasm of mediastinum | malignant neoplasm of mediastinum (diagnosis) | malignant tumor of mediastinum | mediastinal cancer | mediastinum cancer NCI2016_02D:A primary or metastatic malignant neoplasm affecting the mediastinum. Representative examples of primary malignant mediastinal neoplasms include malignant germ cell tumors, malignant mesenchymal tumors, lymphomas, and malignant peripheral nerve sheath tumors. A representative example of metastatic malignant neoplasm to the mediastinum is the metastatic carcinoma to the mediastinum from another anatomic site. ICD10CM_2017:C38.3|ICD9CM_2014:164.9|MSH2017_2016_08_12:D008479|SNOMEDCT_US_2016_09_01:187889002|SNOMEDCT_US_2016_09_01:190097009|SNOMEDCT_US_2016_09_01:363494000|SNOMEDCT_US_2016_09_01:93891008 C1843164 Charcot-marie-tooth disease, demyelinating, type 1f CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F | CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1F | CMT 1F | CMT1F | CMT1f | Charcot-Marie-Tooth Neuropathy, Type 1f | Charcot-Marie-Tooth disease type 1F | Charcot-Marie-Tooth disease type 1F (diagnosis) | Charcot-Marie-Tooth disease, Type 1F | Charcot-Marie-Tooth disease, demyelinating, Type 1F MSH2017_2016_08_12:C537987|OMIM2016_04_17:162280|OMIM2016_04_17:607734 C1860215 Acanthosis nigricans with muscle cramps and acral enlargement ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT | Acanthosis Nigricans With Muscle Cramps And Acral Enlargement | Acanthosis nigricans muscle cramps acral enlargement MSH2017_2016_08_12:C536000|OMIM2016_04_17:200170 C0149516 Chronic sinusitis CHRONIC SINUSITIS | Chronic Sinusitis | Chronic infection of sinus | Chronic infection of sinus, NOS | Chronic rhinosinusitis | Chronic rhinosinusitis (diagnosis) | Chronic sinusitis | Chronic sinusitis (disorder) | Chronic sinusitis NOS | Chronic sinusitis NOS (disorder) | Chronic sinusitis, NOS | Chronic sinusitis, unspecified | Chronic unspecified sinusitis | SINUSITIS CHRONIC | Sinusitis (chronic) NOS | Sinusitis chronic NOS | Sinusitis, chronic | Sinusitis;chronic | Unspecified sinusitis (chronic) | chronic infection sinus | chronic infections sinus | chronic rhinosinusitis | chronic sinus infection | chronic sinusitis | chronic sinusitis (diagnosis) | chronics sinusitis | rhinosinusitis chronic | sinus infection chronic | sinusitis chronic HPO2016_07_04:A chronic form of sinusitis. [HPO:probinson] | NCI2016_02D:Inflammation of the paranasal sinuses that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. HPO2016_07_04:HP:0011109|ICD10CM_2017:J32|ICD10CM_2017:J32.9|ICD9CM_2014:473|ICD9CM_2014:473.9|OMIM2016_04_17:MTHU033962|OMIM2016_04_17:MTHU037623|SNOMEDCT_US_2016_09_01:155525007|SNOMEDCT_US_2016_09_01:155528009|SNOMEDCT_US_2016_09_01:195792008|SNOMEDCT_US_2016_09_01:266384001|SNOMEDCT_US_2016_09_01:40055000 C1851112 Fibromatosis gingival progressive deafness FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS | Fibromatosis gingival progressive deafness | Fibromatosis, Gingival, With Progressive Deafness | GFD | GINGIVAL FIBROMATOSIS WITH SENSORINEURAL HEARING LOSS | Gingival fibromatosis with progressive deafness | Gingival fibromatosis with sensorineural hearing loss | JONES SYNDROME | Jones syndrome MSH2017_2016_08_12:C535886|OMIM2016_04_17:135550 C0005416 Biliary dyskinesia BILIARY DYSKINESIA | Biliary Dyskinesia | Biliary Dyskinesia [Disease/Finding] | Biliary Dyskinesias | Biliary dyskinesia | Biliary dyskinesia (disorder) | Biliary dyskinesia (disorder) [Ambiguous] | Dyskinesia, Biliary | Dyskinesias, Biliary | biliary dyskinesia | biliary dyskinesia (diagnosis) | biliary dyskinesias | biliary; dyskinesia | dyskinesia biliary | dyskinesia; biliary HPO2016_07_04:A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction. [HPO:probinson, pmid:12095476] | MSH2017_2016_08_12:A motility disorder characterized by biliary COLIC, absence of GALLSTONES, and an abnormal GALLBLADDER ejection fraction. It is caused by gallbladder dyskinesia and/or SPHINCTER OF ODDI DYSFUNCTION. HPO2016_07_04:HP:0012396|MSH2017_2016_08_12:D001657|SNOMEDCT_US_2016_09_01:197432008|SNOMEDCT_US_2016_09_01:43469007 C0345799 Gastric fundus carcinoma Cancer of Fundus of Stomach | Cancer of Gastric Fundus | Cancer of the Fundus of the Stomach | Cancer of the Gastric Fundus | Carcinoma of Fundus of Stomach | Carcinoma of Gastric Fundus | Carcinoma of fundus of stomach | Carcinoma of fundus of stomach (diagnosis) | Carcinoma of fundus of stomach (disorder) | Carcinoma of the Fundus of the Stomach | Carcinoma of the Gastric Fundus | Gastric Fundus Cancer | Gastric Fundus Carcinoma | gastric malignant carcinoma fundus NCI2016_02D:A carcinoma that arises from the fundus of the stomach. SNOMEDCT_US_2016_09_01:254555008 C1848980 Developmental arrest Developmental arrest | Developmental stagnation HPO2016_07_04:A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills. [HPO:probinson] HPO2016_07_04:HP:0007281|OMIM2016_04_17:MTHU009226 C3553869 Herpes simplex encephalitis, susceptibility to, 4 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 6 | HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4 | IIAE6 OMIM2016_04_17:607601|OMIM2016_04_17:614850 C1704323 Paget's disease of the nipple Nipple Paget's Disease | PAGET DISEASE, NIPPLE | Paget Disease of the Nipple | Paget disease of nipple | Paget's Disease of Nipple | Paget's Disease of the Nipple | Paget's carcinoma of the nipple | Paget's disease of nipple | Paget's disease of nipple (diagnosis) | Paget's disease of nipple (disorder) | Paget's disease of the nipple | Paget; nipple | breast neoplasm malignant paget's disease nipple | disease (or disorder); nipple, Paget | nipple; Paget | nipple; disorder, Paget NCI2016_02D:A malignant epithelial cellular proliferation characterized by the presence of atypical cells with large nuclei and abundant pale cytoplasm within the squamous epithelium of the nipple. In almost all cases there is an underlying intraductal breast carcinoma or intraductal and invasive carcinoma. The skin changes range from redness to eczematous appearance. | NCI2016_NCI-GLOSS_1602D:A form of breast cancer in which the tumor grows from ducts beneath the nipple onto the surface of the nipple. Symptoms commonly include itching and burning and an eczema-like condition around the nipple, sometimes accompanied by oozing or bleeding. SNOMEDCT_US_2016_09_01:154514006|SNOMEDCT_US_2016_09_01:254842001|SNOMEDCT_US_2016_09_01:269588001|SNOMEDCT_US_2016_09_01:2985005|SNOMEDCT_US_2016_09_01:403946000 C0344724 Ostium secundum atrial septal defect 2 ASD - Secundum atrial septal defect | ASD II - Secundum atrial septal defect | ASD2 - Secundum atrial septal defect | Atrial septal defect (ostium secundum type) | Atrial septal defect of fossa ovalis | Atrial septal defect within oval fossa | Atrial septal defect within oval fossa (disorder) | Atrial septal defect, ostium secundum type | Atrial septal defect, septum secundum | Defect, Patent or persistent, foramen ovale | Defect, Patent or persistent, ostium secundum | Defect, atrium secundum | Defect, fossa ovalis | Fossa ovalis defect | Ostium Secundum Atrial Septal Defect | Ostium secundum ASD NOS | Ostium secundum atrial septal defect | Ostium secundum atrial septal defect NOS | Ostium secundum atrial septal defect NOS (disorder) | Ostium secundum defect | Ostium secundum type atrial septal defect | Ostium secundum type atrial septal defect (disorder) | Ostium secundum type atrial septal defect (disorder) [Ambiguous] | Patent foramen ovale | Patent ostium secundum | Persistent ostium secundum | Secundum atrial septal defect | ostium secundum | ostium secundum atrial septal defect | ostium secundum atrial septal defect (diagnosis) | secundum; ostium HPO2016_07_04:A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. [DDD:dbrown, HPO:probinson] HPO2016_07_04:HP:0001684|ICD9CM_2014:745.5|MSH2017_2016_08_12:D006344|OMIM2016_04_17:MTHU017170|OMIM2016_04_17:MTHU017841|OMIM2016_04_17:MTHU036021|SNOMEDCT_US_2016_09_01:204315000|SNOMEDCT_US_2016_09_01:204321001|SNOMEDCT_US_2016_09_01:78902000 C1856466 Gardner-silengo-wachtel syndrome GARDNER-SILENGO-WACHTEL SYNDROME | GENITOPALATOCARDIAC SYNDROME | Gardner-Silengo-Wachtel syndrome | Genito palato cardiac syndrome | Genito-palato-cardiac syndrome | Genitopalatocardiac syndrome | MALE PSEUDOHERMAPHRODITISM WITH MICROGNATHIA, CLEFT PALATE, AND CONOTRUNCAL CARDIAC DEFECT | Male pseudohermaphroditism with micrognathia, cleft palate and conotruncal cardiac defect MSH2017_2016_08_12:C537683|OMIM2016_04_17:231060 C0857276 Patellar subluxation Partial knee cap dislocation | Patellar subluxation | Subluxation of patella | Subluxation patella | patella subluxation | patella; subluxation | patellas subluxation | subluxation knee joint patella | subluxation of patella | subluxation of patella (diagnosis) | subluxation patella | subluxation; patella HPO2016_07_04:The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella. [HPO:curators] HPO2016_07_04:HP:0010499|OMIM2016_04_17:MTHU007227|OMIM2016_04_17:MTHU018868 C1864966 Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE FACIAL FEATURES | Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features MSH2017_2016_08_12:C536182|OMIM2016_04_17:609944 C0270750 Cerebellar ataxia, sanger-brown Cerebellar ataxia, Sanger-Brown | Sanger-Brown | Sanger-Brown cerebellar ataxia | Sanger-Brown cerebellar ataxia (diagnosis) | Sanger-Brown cerebellar ataxia (disorder) | Sanger-Brown; ataxia | ataxia; Sanger-Brown SNOMEDCT_US_2016_09_01:192870009|SNOMEDCT_US_2016_09_01:37960002 C0024314 Lymphoproliferative disorders Disorder, Lymphoproliferative | Disorders, Lymphoproliferative | Duncan syndrome | Duncan's syndrome | Lymphoproliferative Disorder | Lymphoproliferative Disorders | Lymphoproliferative Disorders [Disease/Finding] | Lymphoproliferative disease | Lymphoproliferative disease (morphologic abnormality) | Lymphoproliferative disease NOS | Lymphoproliferative disease, NOS | Lymphoproliferative disease, no ICD-O subtype | Lymphoproliferative disease, no ICD-O subtype (morphologic abnormality) | Lymphoproliferative disease, no International Classification of Diseases for Oncology subtype | Lymphoproliferative disease, no International Classification of Diseases for Oncology subtype (morphologic abnormality) | Lymphoproliferative disorder | Lymphoproliferative disorder (disorder) | Lymphoproliferative disorder (morphologic abnormality) | Lymphoproliferative disorder NOS | Lymphoproliferative disorders | disease (or disorder); lymphoproliferative | diseases lymphoproliferative | disorders lymphoproliferative | duncan syndrome | duncan's syndrome | duncans syndrome | lymphoproliferative disease | lymphoproliferative disease (diagnosis) | lymphoproliferative disorder | lymphoproliferative disorder nos | lymphoproliferative disorders | lymphoproliferative; disorder MSH2017_2016_08_12:Disorders characterized by proliferation of lymphoid tissue, general or unspecified. | NCI2016_02D:A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis). | NCI2016_NCI-GLOSS_1602D:A disease in which cells of the lymphatic system grow excessively. Lymphoproliferative disorders are often treated like cancer. HPO2016_07_04:HP:0005523|ICD10CM_2017:D47.9|MSH2017_2016_08_12:D008232|OMIM2016_04_17:MTHU038984|SNOMEDCT_US_2016_09_01:277466009|SNOMEDCT_US_2016_09_01:414629003|SNOMEDCT_US_2016_09_01:77121009|SNOMEDCT_US_2016_09_01:84631004 C3662005 Neuropathy of lower limb Neuropathy of lower limb | Neuropathy of lower limb (disorder) SNOMEDCT_US_2016_09_01:609600000 C3164848 Melanocytic naevus of skin of thigh Melanocytic naevus of skin of thigh | Melanocytic nevus of skin of thigh | Melanocytic nevus of skin of thigh (disorder) | Mole of thigh SNOMEDCT_US_2016_09_01:448448009 C4280583 Hypertrophy of forehead Hypertrophy of forehead HPO2016_07_04:HP:0002003 C0919997 Thickened achilles tendon Achilles tendon thickening | Thickened Achilles tendon | achilles tendon thickening HPO2016_07_04:An abnormal thickening of the Achilles tendon. [HPO:probinson] HPO2016_07_04:HP:0004690|OMIM2016_04_17:MTHU014581 C0235527 Heart failure, right-sided CARDIAC FAILURE RIGHT | Cardiac failure right | FAILURE RIGHT HEART | Failure right heart | HEART FAILURE, RIGHT | Heart Failure, Right Sided | Heart Failure, Right-Sided | Heart failure, right-sided | Right Heart Failure | Right Sided Heart Failure | Right heart failure | Right heart failure (diagnosis) | Right heart failure (disorder) | Right-Sided Heart Failure | Right-sided heart failure | Right-sided heart failure syndrome | cardiac failure right | cardiac failure right heart | failure heart right | failure heart right sided | failure heart right sides | failure right heart | heart failure right side | right heart failure | right side heart failure | right ventricular failure | right-sided heart failure | rvf MSH2017_2016_08_12:Heart failure involving the RIGHT VENTRICLE. HPO2016_07_04:HP:0001708|MSH2017_2016_08_12:D006333|OMIM2016_04_17:MTHU043979|SNOMEDCT_US_2016_09_01:128404006 C1838416 Cleidocranial dysplasia, forme fruste, dental anomalies only CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY | Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only MSH2017_2016_08_12:C563974|OMIM2016_04_17:119600|OMIM2016_04_17:600211 C1864361 Lower thoracic kyphosis Lower thoracic kyphosis | Round mid-back HPO2016_07_04:Over curvature of the lower thoracic region, leading to a round back or if sever to a hump. [HPO:probinson] HPO2016_07_04:HP:0004633|OMIM2016_04_17:MTHU005214 C0302472 Acute and chronic cholecystitis Acute and chronic cholecystitis | Acute and chronic cholecystitis (disorder) | Acute on chronic cholecystitis | acute and chronic cholecystitis | acute and chronic cholecystitis (diagnosis) ICD9CM_2014:575.12|SNOMEDCT_US_2016_09_01:396335001 C2677087 Epilepsy, childhood absence, susceptibility to, 5 ECA5 | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 OMIM2016_04_17:137192|OMIM2016_04_17:612269 C0748296 Renal failure acute obstructive RENAL FAILURE ACUTE OBSTRUCTIVE C4024890 Excessive wrinkled skin Excessive wrinkled skin HPO2016_07_04:HP:0007392 C1836014 Exaggerated acoustic startle response Exaggerated acoustic startle response HPO2016_07_04:HP:0002267|OMIM2016_04_17:MTHU000674 C1096368 Mean platelet volume decreased Decreased mean platelet volume | Mean platelet volume decreased HPO2016_07_04:Average platelet volume below the lower limit of the normal reference interval. [DDD:wouwehand] HPO2016_07_04:HP:0005537 C1839749 Paroxysmal bursts of laughter Paroxysmal bursts of laughter | Paroxysmal laughter HPO2016_07_04:HP:0000749|OMIM2016_04_17:MTHU007243|OMIM2016_04_17:MTHU019562 C0085680 Hypochloremia (disorder) Chloride, decreased level | HYPOCHLORAEMIA | HYPOCHLOREMIA | Hypochloraemia | Hypochloremia | Hypochloremia (disorder) | hypochloremia | hypochloremia (diagnosis) CSP2006:abnormally low level of chloride in the blood. | HPO2016_07_04:An abnormally decreased chloride concentration in the blood. [HPO:probinson] HPO2016_07_04:HP:0003113|ICD10CM_2017:E87.8|SNOMEDCT_US_2016_09_01:10399008 C0029405 Osteitis fibrosa cystica Big head | Bran disease | Brown tumor | Brown tumour | ENGEL-RECKLINGHAUSEN SYNDROME | Fibro-osteoclasia | Fibrous osteodystrophy | Hyperparathyroid bone disease | Hyperparathyroid bone disease (disorder) | OSTEITIS FIBROSA CYSTICA | OSTEITIS FIBROSA CYSTICA GENERALISATA | OSTEITIS, PARATHYROID | Osteitis Fibrosa Cystica | Osteitis Fibrosa Cystica [Disease/Finding] | Osteitis fibrosa cystica | Osteitis fibrosa cystica generalisata | Osteitis fibrosa cystica generalisata (disorder) | Osteodystrophia fibrosa | RECKLINGHAUSEN DISEASE OF BONES | Recklinghausen Disease of Bone | Recklinghausen Disease, Bone | Recklinghausen's Disease of Bone | Recklinghausen; bone disease | Recklinghausens Disease, Bone | Von Recklinghausen Disease of Bone | Von Recklinghausen's Disease of Bone | Von Recklinghausen's bone disease | Von Recklinghausen's disease of bone | Von Recklinghausen; disease, bone | big head | big heads | bone disease; Recklinghausen | brans disease | brown tumor | brown tumors | browns tumor | disease; Von Recklinghausen, bone | fibrosa; osteitis, cystica (generalisata) | fibrous osteodystrophy | neurofibromatosis type I (von Recklinghausen's) in bone | osteitis cystica fibrosa | osteitis fibrosa cystica | osteitis; fibrosa, cystica (generalisata) | type I neurofibromatosis in bone | type I neurofibromatosis in bone (diagnosis) | von Recklinghausen's bone disease | von Recklinghausen's disease of bone | von Recklinghausen's in bone MSH2017_2016_08_12:A fibrous degeneration, cyst formation, and the presence of fibrous nodules in bone, usually due to HYPERPARATHYROIDISM. MSH2017_2016_08_12:D010002|SNOMEDCT_US_2016_09_01:190451000|SNOMEDCT_US_2016_09_01:190453002|SNOMEDCT_US_2016_09_01:84727000 C0024449 Fungal mycetoma MYCETOMA | Mycetoma | Mycetoma (disorder) | Mycetoma NOS | Mycetoma [Disease/Finding] | Mycetoma, NOS | Mycetoma, unspecified | Mycetomas | Mycetomata | [X]Mycetoma, unspecified | [X]Mycetoma, unspecified (disorder) | fungal mycetoma | madura foot | maduramycosis | maduromycosis | mycetoma | mycetoma (diagnosis) | mycetomas MSH2017_2016_08_12:A chronic progressive subcutaneous infection caused by species of fungi (eumycetoma), or actinomycetes (actinomycetoma). It is characterized by tumefaction, abscesses, and tumor-like granules representing microcolonies of pathogens, such as MADURELLA fungi and bacteria ACTINOMYCETES, with different grain colors. | NCI2016_02D:A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes. ICD10CM_2017:B47|ICD10CM_2017:B47.9|MSH2017_2016_08_12:D008271|SNOMEDCT_US_2016_09_01:187497002|SNOMEDCT_US_2016_09_01:410039003 C1412004 Tumor of the pineal region Neoplasm of Pineal Area | Neoplasm of Pineal Region | Neoplasm of the Pineal Area | Neoplasm of the Pineal Region | Pineal Area Neoplasm | Pineal Area Tumor | Pineal Body Neoplasm | Pineal Body Tumor | Pineal Neoplasm | Pineal Region Neoplasm | Pineal Region Tumor | Pineal Tumor | Pineal neoplasms | Pinealoma | Tumor of Pineal Area | Tumor of Pineal Region | Tumor of the Pineal Area | Tumor of the Pineal Region | pineal region tumor NCI2016_02D:Neoplasms that are located in the pineal gland. These neoplasms arise either from pineal parenchymal cells (pineocytes), as do pineocytomas and the more aggressive pineoblastomas, or from other cell types, as do pineal astrocytic tumors (notably pilocytic astrocytomas) and germ cell tumors. Clinical symptoms include neuro-ophthalmologic dysfunction, changes in mental status, dysfunction of the brain stem, and hypothalamic-based endocrine abnormalities. | NCI2016_NCI-GLOSS_1602D:A type of brain tumor that occurs in or around the pineal gland, a tiny organ near the center of the brain. C0042420 Vasovagal syncope Attack(s);vasovagal | Faint, Neurally Mediated | Faints, Neurally Mediated | Gower's syndrome | Neurally Mediated Faint | Neurally Mediated Faints | Neurocardiogenic Syncope | Neurocardiogenic Syncopes | Neurocardiogenic syncope | Neurogenic Syncope | Neurogenic Syncopes | Reflex syncope | SYNCOPE VAGOVAGAL | SYNCOPE VASOVAGAL | SYNCOPE, VASOVAGAL | Syncope vagovagal | Syncope vasovagal | Syncope, Neurocardiogenic | Syncope, Neurogenic | Syncope, Vasodepressor | Syncope, Vasovagal | Syncope, Vasovagal [Disease/Finding] | Syncope, Vasovagal, Neurally-Mediated | Syncope, vasovagal | Syncope/vasovagal faint | Syncope/vasovagal faint (finding) | Syncopes, Neurocardiogenic | Syncopes, Neurogenic | Syncopes, Vasodepressor | Syncopes, Vasovagal | VAGAL REACTION | VASOVAGAL EPISODE | VASOVAGAL REACTION | VASOVAGAL SYNCOPE | VASOVAGAL SYNDROME | Vagal attack | Vagal reaction | Vaso vagal attack | Vaso vagal episode | Vasodepressor Syncope | Vasodepressor Syncopes | Vasodepressor syncope | Vasodepressor syncope (disorder) | Vasovagal Syncope | Vasovagal Syncopes | Vasovagal attack | Vasovagal attack (disorder) | Vasovagal reaction | Vasovagal syncope | Vasovagal syncope (disorder) | Vasovagal syncope (finding) | [D]Vasovagal attack | [D]Vasovagal attack (context-dependent category) | [D]Vasovagal attack (situation) | attack; vasovagal | attacks vagal | attacks vagal vaso | episodes vagal vaso | episodes vasovagal | gower's syndrome | neurocardiogenic syncope | neurogenic syncope | reaction vasovagal | reactions vasovagal | syncope neurocardiogenic | syncope vasodepressor | syncope vasovagal | syndrome; vasovagal | vagal attack | vagal reaction | vaso vagal attack | vaso vagal episode | vasodepressor syncope | vasovagal attack | vasovagal attacks | vasovagal episode | vasovagal reaction | vasovagal syncope | vasovagal syncope (diagnosis) | vasovagal syncopes | vasovagal syndrome | vasovagal; attack | vasovagal; syndrome HPO2016_07_04:Loss of consciousness due to a reduction in blood pressure that is associated with an increase in vagal tone and peripheral vasodilation. [HPO:probinson, MeSH:D019462] | MSH2017_2016_08_12:Loss of consciousness due to a reduction in blood pressure that is associated with an increase in vagal tone and peripheral vasodilation. HPO2016_07_04:HP:0012668|ICD10CM_2017:R55|MSH2017_2016_08_12:D019462|OMIM2016_04_17:MTHU046178|SNOMEDCT_US_2016_09_01:127380002|SNOMEDCT_US_2016_09_01:139534004|SNOMEDCT_US_2016_09_01:158136005|SNOMEDCT_US_2016_09_01:162265001|SNOMEDCT_US_2016_09_01:206728007|SNOMEDCT_US_2016_09_01:230663003|SNOMEDCT_US_2016_09_01:29423006|SNOMEDCT_US_2016_09_01:398652001|SNOMEDCT_US_2016_09_01:398665005 C0026269 Mitral valve stenosis MITRAL STENOSIS | MITRAL VALVE STENOSIS | MITRAL VALVE, STENOSIS | MS | MS - Mitral stenosis | Mitral Stenoses | Mitral Stenosis | Mitral Valve Stenoses | Mitral Valve Stenosis | Mitral Valve Stenosis [Disease/Finding] | Mitral stenosis | Mitral valve stenosis | Mitral valve stenosis (disorder) | Mitral valve stenosis, NOS | Stenoses, Mitral | Stenoses, Mitral Valve | Stenosis, Mitral | Stenosis, Mitral Valve | Valve Stenoses, Mitral | Valve Stenosis, Mitral | mitral stenosis | mitral stenosis (diagnosis) | mitral valve stenosis | mitral; stenosis | mitral; stricture | ms | stenosis; mitral | stricture; mitral CHV2011_02:narrowing of a heart valve | CSP2006:rheumatic disease causing diffuse thickening of the mitral valve leaflets by fibrous tissue or calcific deposits. | HPO2016_07_04:Ab abnormal narrowing of the orifice of the mitral valve. [DDD:dbrown] | MSH2017_2016_08_12:Narrowing of the passage through the MITRAL VALVE due to FIBROSIS, and CALCINOSIS in the leaflets and chordal areas. This elevates the left atrial pressure which, in turn, raises pulmonary venous and capillary pressure leading to bouts of DYSPNEA and TACHYCARDIA during physical exertion. RHEUMATIC FEVER is its primary cause. | NCI2016_02D:Narrowing of the left atrioventricular mitral orifice. | NCI2016_FDA_1602D:Narrowing of the left atrioventricular mitral orifice. HPO2016_07_04:HP:0001718|MSH2017_2016_08_12:D008946|OMIM2016_04_17:MTHU037463|OMIM2016_04_17:MTHU039739|SNOMEDCT_US_2016_09_01:155277002|SNOMEDCT_US_2016_09_01:194725005|SNOMEDCT_US_2016_09_01:79619009 C1862376 Abnormally prominent line of schwalbe Abnormally prominent line of Schwalbe | Prominent Schwalbe line | Prominent Schwalbe lines HPO2016_07_04:HP:0007873|OMIM2016_04_17:MTHU017324|OMIM2016_04_17:MTHU019365|OMIM2016_04_17:MTHU043310 C1859392 Absent axillary hair Absent axillary hair | No axillary hair HPO2016_07_04:Absence of axillary hair. [HPO:probinson] HPO2016_07_04:HP:0002221|OMIM2016_04_17:MTHU014108|OMIM2016_04_17:MTHU040650 C0334588 Giant cell glioblastoma Giant Cell Glioblastoma | Giant Cell Glioblastomas | Giant cell glioblastoma | Giant cell glioblastoma (morphologic abnormality) | Glioblastoma, Giant Cell | Glioblastomas, Giant Cell | Monstrocellular sarcoma [obs] | giant cell glioblastoma | giant cell; glioblastoma, unspecified site | glioblastoma; giant cell, unspecified site NCI2016_02D:A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO) MSH2017_2016_08_12:D005909|SNOMEDCT_US_2016_09_01:44529004 C0855186 Recurrent bladder epidermoid carcinoma Bladder squamous cell carcinoma recurrent | Recurrent Bladder Epidermoid Carcinoma | Recurrent Bladder Squamous Cell Carcinoma | Recurrent Epidermoid Carcinoma of Bladder | Recurrent Epidermoid Carcinoma of Urinary Bladder | Recurrent Epidermoid Carcinoma of the Bladder | Recurrent Epidermoid Carcinoma of the Urinary Bladder | Recurrent Squamous Cell Carcinoma of Bladder | Recurrent Squamous Cell Carcinoma of Urinary Bladder | Recurrent Squamous Cell Carcinoma of the Bladder | Recurrent Squamous Cell Carcinoma of the Urinary Bladder | Recurrent Urinary Bladder Epidermoid Carcinoma | Recurrent Urinary Bladder Squamous Cell Carcinoma | Relapsed Bladder Epidermoid Carcinoma | Relapsed Bladder Squamous Cell Carcinoma | Relapsed Epidermoid Carcinoma of Bladder | Relapsed Epidermoid Carcinoma of Urinary Bladder | Relapsed Epidermoid Carcinoma of the Bladder | Relapsed Epidermoid Carcinoma of the Urinary Bladder | Relapsed Squamous Cell Carcinoma of Bladder | Relapsed Squamous Cell Carcinoma of Urinary Bladder | Relapsed Squamous Cell Carcinoma of the Bladder | Relapsed Squamous Cell Carcinoma of the Urinary Bladder | Relapsed Urinary Bladder Epidermoid Carcinoma | Relapsed Urinary Bladder Squamous Cell Carcinoma | Squamous Cell Carcinoma of Bladder, Recurrent | Squamous Cell Carcinoma of the Bladder, Recurrent | Squamous cell bladder carcinoma recurrent | Squamous cell carcinoma of the bladder recurrent NCI2016_02D:The reemergence of bladder squamous cell carcinoma after a period of remission. C0035321 Retinal tear Break, Retinal | Breaks, Retinal | Dialyses, Retinal | Hole in retina | Hole, Retinal | Holes, Retinal | Perforation, Retinal | Perforations, Retinal | RETINAL TEAR | Retina, Tear(s) In | Retinal Break | Retinal Breaks | Retinal Dialyse | Retinal Dialyses | Retinal Hole | Retinal Holes | Retinal Perforation | Retinal Perforations | Retinal Perforations [Disease/Finding] | Retinal Tear | Retinal Tears | Retinal atrophic hole | Retinal break | Retinal break (disorder) | Retinal break NOS | Retinal break, NOS | Retinal breaks NOS | Retinal dialysis | Retinal dialysis (disorder) | Retinal hole | Retinal holes | Retinal perforation | Retinal tear | Retinal tear (disorder) | Retinal tear, NOS | Retinal tears | Tear, Retinal | Tears, Retinal | Torn retina | atrophic retinal hole | hole in retina | hole retina | hole retinal | hole; retina | holes retina | ophthalmoscopic retinal hole | retina hole | retina tear | retina tears | retina; hole | retina; tear | retinal breaks | retinal dialysis | retinal hole | retinal hole (physical finding) | retinal holes | retinal perforations | retinal tear | retinal tear (diagnosis) | retinal tears | round retinal hole | round retinal hole (physical finding) | tear retina | tear; retina HPO2016_07_04:A small break in the retina. [HPO:probinson] | HPO2016_07_04:A small hole through the whole thickness of the retina. [HPO:probinson] | MSH2017_2016_08_12:Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes. | NCI2016_02D:A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters. | NCI2016_CTCAE_1602D:A disorder characterized by a small laceration of the retina, this occurs when the vitreous separates from the retina. Symptoms include flashes and floaters. | NCI2016_NICHD_1602D:A break or hole in the retina. HPO2016_07_04:HP:0011530|HPO2016_07_04:HP:0011958|MSH2017_2016_08_12:D012167|OMIM2016_04_17:MTHU049383|OMIM2016_04_17:MTHU049788|SNOMEDCT_US_2016_09_01:155104004|SNOMEDCT_US_2016_09_01:193317004|SNOMEDCT_US_2016_09_01:193343003|SNOMEDCT_US_2016_09_01:232003005|SNOMEDCT_US_2016_09_01:302888003|SNOMEDCT_US_2016_09_01:40024006|SNOMEDCT_US_2016_09_01:95690009 C2750448 Corneal dystrophy, fuchs endothelial, 6 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET | Corneal Dystrophy, Fuchs Endothelial, 6 | FECD6 MSH2017_2016_08_12:C567675|OMIM2016_04_17:189909|OMIM2016_04_17:613270 C0585274 Periodic syndrome Periodic syndrome | Periodic syndrome (disorder) | periodic syndrome SNOMEDCT_US_2016_09_01:307421005 C0153464 Mal tum periton+retroperiton Mal tum periton+retroperiton | Malig neop retroper/perit NOS | Malig neop retroperit/periton | Malignant neoplasm of malignant neoplasm of retroperitoneum and peritoneum | Malignant neoplasm of retroperitoneum and peritoneum | Malignant neoplasm of retroperitoneum and peritoneum NOS | Malignant neoplasm of retroperitoneum and peritoneum NOS (disorder) | Malignant tumor of peritoneum and retroperitoneum | Malignant tumor of peritoneum and retroperitoneum (disorder) | Malignant tumour of peritoneum and retroperitoneum | malignant neoplasm of peritoneum and retroperitoneum | malignant neoplasm of peritoneum and retroperitoneum (diagnosis) ICD10CM_2017:C48|ICD9CM_2014:158|SNOMEDCT_US_2016_09_01:187801002|SNOMEDCT_US_2016_09_01:187817008 C0238208 Kidney, fibrosarcoma Fibrosarcoma of Kidney | Fibrosarcoma of the Kidney | KIDNEY, FIBROSARCOMA | Kidney Fibrosarcoma | Renal Fibrosarcoma | fibrosarcoma of kidney | fibrosarcoma of kidney (diagnosis) NCI2016_02D:A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. C0035189 Residential treatment Residential Treatment | Residential Treatments | Treatment, Residential | Treatments, Residential | residential treatment | treatment residential MSH2017_2016_08_12:A specialized residential treatment program for behavior disorders including substance abuse. It may include therapeutically planned group living and learning situations including teaching of adaptive skills to help patient functioning in the community. (From Kahn, A. P. and Fawcett, J. Encyclopedia of Mental Health, 1993, p320.) MSH2017_2016_08_12:D012114 C1850985 Fragile site 16p12 FRAGILE SITE 16p12 | Fragile Site 16p12 MSH2017_2016_08_12:C565001|OMIM2016_04_17:136570 C0311245 Congenital cystic kidney disease Congen.cystic kidney dis.NOS | Congenital cyst of kidney | Congenital cystic disease of kidney | Congenital cystic disease of kidney (disorder) | Congenital cystic kidney disease | Congenital cystic kidney disease (disorder) | Congenital cystic kidney disease NOS | Congenital cystic kidney disease NOS (disorder) | Congenital cystic renal disease | Congenital polycystic kidney disease | Cystic kidney disease | Cystic kidney disease, unspecified | Multiple congenital cysts of kidney | Sponge kidney | congenital cysts kidney | cystic; renal disease, congenital | disease (or disorder); cystic, kidney, congenital | disease (or disorder); kidney, cystic (congenital) | disease (or disorder); renal, cystic, congenital | renal; disease, cystic, congenital ICD9CM_2014:753.1|ICD9CM_2014:753.10|SNOMEDCT_US_2016_09_01:204954005|SNOMEDCT_US_2016_09_01:204966004|SNOMEDCT_US_2016_09_01:236440007|SNOMEDCT_US_2016_09_01:82525005 C0085859 Polyglandular type i autoimmune syndrome AIRE Deficiencies | AIRE Deficiency | APECED | APECED - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy | APEDED | APS I | APS Type 1 | APS type 1 | APS1 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA | AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY | AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE I | Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy | Autoimmune Polyendocrinopathy Syndrome Type 1 | Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy | Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy | Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy | Autoimmune Polyglandular Syndrome Type I | Autoimmune Polyglandular Syndrome, Type 1 | Autoimmune Polyglandular Syndrome, Type I | Autoimmune Syndrome Type I, Polyglandular | Autoimmune polyendocrinopathy, candidosis AND ectodermal dystrophy | Autoimmune polyendocrinopathy, candidosis and ectodermal dystrophy | Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy | Blizzard syndrome | Candidiasis-endocrinopathy syndrome | Deficiency, AIRE | ENDOCRINOPATHY, FAMILIAL, JUVENILE | HAM syndrome | HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS | Hypoadrenocorticism, hypoparathyroidism and superficial moniliasis | Hypoparathyroidism, Addison's disease AND moniliasis | Hypoparathyroidism, Addison's disease and moniliasis | Juvenile familial endocrinopathy | PGA I | POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE I | Polyendocrinopathy Candidiasis Ectodermal Dystrophy, Autoimmune | Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Autoimmune | Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune | Polyglandular Autoimmune Syndrome, Type 1 | Polyglandular Autoimmune Syndrome, Type I | Polyglandular Type I Autoimmune Syndrome | Polyglandular autoimmune syndrome - type 1 | Polyglandular autoimmune syndrome - type 1 (disorder) | Polyglandular autoimmune syndrome type I | Polyglandular autoimmune syndrome, type 1 | Polyglandular autoimmune syndrome, type 1 (disorder) | Polyglandular deficiency associated with mucocutaneous candidiasis | Type 1 polyendocrine autoimmunity syndrome | Whitaker syndrome | blizzard syndrome MSH2017_2016_08_12:D016884|OMIM2016_04_17:240300|SNOMEDCT_US_2016_09_01:11244009|SNOMEDCT_US_2016_09_01:237828007 C3280766 Joubert syndrome 14 JBTS14 | JOUBERT SYNDROME 14 OMIM2016_04_17:614423|OMIM2016_04_17:614424 C0150034 Exchange gas impaired Gas Exchange Impairment | Gas exchange impairment | Impaired Gas Exchange | Impaired gas exchange | Impaired gas exchange (finding) | exchange gas impaired | impaired gas exchange | rndx gas exchange impairment | rndx gas exchange impairment (diagnosis) CCC2_5:Imbalance of oxygen and carbon dioxide transfer between lung and vascular system | NANDA-I_2015-2017:Excess or deficit in oxygenation and/or carbon dioxide elimination at the alveolar-capillary membrane. SNOMEDCT_US_2016_09_01:70944005 C0393732 Non-convulsive status epilepticus without three per second spike wave Non-convulsive status epilepticus without 3/s spike wave | Non-convulsive status epilepticus without three per second spike wave | Non-convulsive status epilepticus without three per second spike wave (disorder) SNOMEDCT_US_2016_09_01:230458008 C1857284 Diaphragmatic hernia 2 DIAPHRAGMATIC HERNIA 2 | DIH2 | Diaphragmatic Hernia 2 MSH2017_2016_08_12:C565629|OMIM2016_04_17:222400 C0343654 Coxsackie virus exanthem Coxsackie virus exanthem | Coxsackie virus exanthem (disorder) SNOMEDCT_US_2016_09_01:240546009 C2751630 Dursun syndrome DURSUN SYNDROME | Dursun Syndrome | PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT | Pulmonary Arterial Hypertension, Leukopenia, And Atrial Septal Defect MSH2017_2016_08_12:C567804|OMIM2016_04_17:611045|OMIM2016_04_17:612541 C1336708 Testicular germ cell tumor Germ Cell Neoplasm of Testis | Germ Cell Neoplasm of the Testis | Germ Cell Tumor of Testis | Germ Cell Tumor of the Testis | Germ cell tumor of testis | Germ cell tumor of testis (disorder) | Germ cell tumour of testis | MALE GERM CELL TUMOR | MGCT | TESTICULAR GERM CELL TUMOR | TGCT | Testicular Germ Cell Neoplasm | Testicular Germ Cell Neoplasms | Testicular Germ Cell Tumor | Testicular germ cell tumor | Testicular germ cell tumour NCI2016_02D:A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. | NCI2016_NICHD_1602D:A neoplasm arising from gonadal tissue within the testes. MSH2017_2016_08_12:C563236|OMIM2016_04_17:273300|SNOMEDCT_US_2016_09_01:713577007 C0033804 Pseudohermaphroditism Dysgenetic pseudohermaphroditism syndrome | PSEUDOHERMAPHRODITISM | Pseudohermaphroditism | Pseudohermaphroditism (disorder) | Pseudohermaphroditism NOS | Pseudohermaphroditism syndrome | Pseudohermaphroditism, unspecified | pseudohermaphroditism | pseudohermaphroditism (diagnosis) CSP2006:condition in which the gonads are of one sex but one or more contradictions exist in the morphologic criteria of sex; female pseudohermaphroditism is a form in which the affected individual is a genetic and gonadal female with partial masculinization; male pseudohermaphroditism is a form in which the affected individual is a genetic and gonadal male with incomplete masculinization. | MSH2017_2016_08_12:An historical term for a variety of abnormalities in sex development that lead to anomalies in the reproductive tract and/or external genitalia. | NCI2016_02D:A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex. | NCI2016_CDISC_1602D:Gonads of one sex are present, while the external genital organs resemble in whole or in part those of the opposite sex. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) ICD10CM_2017:Q56.3|MSH2017_2016_08_12:D012734|OMIM2016_04_17:MTHU009925|SNOMEDCT_US_2016_09_01:268328009|SNOMEDCT_US_2016_09_01:75164001 C1263858 Muscular dystrophy congenital, merosin negative MDC1A | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A | Merosin deficient congenital muscular dystrophy | Merosin deficient congenital muscular dystrophy (disorder) | Merosin-Deficient Congenital Muscular Dystrophy Type 1A | Merosin-deficient congenital muscular dystrophy | Merosin-negative congenital muscular dystrophy | Muscular Dystrophy, Congenital Merosin-Deficient | Muscular Dystrophy, Congenital Merosin-Deficient, 1A | Muscular dystrophy congenital, merosin negative | Muscular dystrophy, congenital, merosin-deficient 1A NCI2016_02D:An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the LAMA2 gene. It is characterized by severe hypotonia, muscle weakness, elevated levels of serum creatinine kinase, and white matter abnormalities. MSH2017_2016_08_12:C537384|OMIM2016_04_17:156225|OMIM2016_04_17:607855|SNOMEDCT_US_2016_09_01:111503008 C0266625 Preauricular sinus Congenital preauricular sinus | Pre-auricular sinus congenital | Preauricular Sinus | Preauricular sinus | Preauricular sinus (disorder) | Preauricular sinus (disorder) [Ambiguous] | Preauricular sinuses | preauricular sinus | preauricular sinus (diagnosis) | preauricular; sinus | sinus; preauricular HPO2016_07_04:HP:0004467|OMIM2016_04_17:MTHU001451|OMIM2016_04_17:MTHU016596|SNOMEDCT_US_2016_09_01:204271000|SNOMEDCT_US_2016_09_01:8921005 C0392788 Nasal type extranodal nk/t-cell lymphoma Angiocentric T-Cell Lymphoma | Angiocentric T-cell lymphoma | Angiocentric T-cell lymphoma (disorder) | Angiocentric T-cell lymphoma (morphologic abnormality) | Angiocentric T-cell lymphoma -RETIRED- | Angiocentric lymphoma | Angiocentric lymphoma NOS | Angiocentric lymphomas | Extranodal NK T Cell Lymphoma, Nasal | Extranodal NK T Cell Lymphoma, Nasal Type | Extranodal NK T Cell Lymphoma, Nasal and Nasal Type | Extranodal NK-T-Cell Lymphoma, Nasal | Extranodal NK-T-Cell Lymphoma, Nasal Type | Extranodal NK-T-Cell Lymphoma, Nasal and Nasal-Type | Extranodal NK/T lymphoma-nasal | Extranodal NK/T-Cell Lymphoma, Nasal Type | Extranodal NK/T-cell lymphoma, nasal type | Extranodal NK/T-cell lymphoma, nasal type (disorder) | Extranodal natural killer/T-cell lymphoma, nasal type | Extranodal natural killer/T-cell lymphoma, nasal type (disorder) | Nasal Type Extranodal NK/T-Cell Lymphoma | RETICULOSIS, MALIGNANT | T-cell; lymphoma, angiocentric | T/NK-cell lymphoma | angiocentric T-cell; lymphoma | extranodal NK/T-cell lymphoma of nasal cavity | extranodal NK/T-cell lymphoma of nasal cavity (diagnosis) | lymphoma; T-cell, angiocentric | lymphoma; angiocentric T-cell NCI2016_02D:An aggressive, predominantly extranodal, mature T-cell non-Hodgkin lymphoma. It is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. The nasal cavity is the most common site of involvement. Patients often present with midfacial destructive lesions (lethal midline granuloma). The disease may disseminate rapidly to various anatomic sites including the gastrointestinal tract, skin, testis, and cervical lymph nodes. It is also known as angiocentric T-cell lymphoma. The term "polymorphic reticulosis" has been widely used to describe the morphologic changes seen in this type of lymphoma. However, the latter term may also apply to lymphomatoid granulomatosis, which is an angiocentric and angiodestructive EBV positive B-cell lymphoproliferative disorder. | NCI2016_CDISC_1602D:A malignant lymphoid neoplasm composed of EBV-positive NK/T cells arranged in an angiocentric pattern. ICD10CM_2017:C86.0|MSH2017_2016_08_12:D054391|SNOMEDCT_US_2016_09_01:188689002|SNOMEDCT_US_2016_09_01:277648007|SNOMEDCT_US_2016_09_01:414166008|SNOMEDCT_US_2016_09_01:66855003 C1857657 Decreased subcutaneous adipose tissue Decreased subcutaneous adipose tissue | Reduced fat tissue below the skin | Reduced subcutaneous adipose tissue | Reduced subcutaneous fat | Scanty adipose tissue HPO2016_07_04:The presence of an abnormally reduced amount of subcutaneous adipose tissue. [HPO:probinson] HPO2016_07_04:HP:0003758|OMIM2016_04_17:MTHU013791 C1867299 Retinitis pigmentosa 10 RETINITIS PIGMENTOSA 10 | RP10 | Retinitis Pigmentosa 10 MSH2017_2016_08_12:C566715|OMIM2016_04_17:146690|OMIM2016_04_17:180105 C4023471 Eeg with abnormally slow frequencies EEG with abnormally slow frequencies HPO2016_07_04:EEG with abnormally slow frequencies. [HPO:jalbers] HPO2016_07_04:HP:0011203 C0278717 Intraocular retinoblastoma Intraocular Retinoblastoma | Intraocular retinoblastoma NCI2016_02D:Retinoblastoma restricted to local involvement. C3810407 Cortical dysplasia, complex, with other brain malformations 5 CDCBM5 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 OMIM2016_04_17:615101|OMIM2016_04_17:615763 C1851537 Voorhoeve dyschondroplasia Dysplasia epiphysealis multiplex | EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE | Epiphyseal Dysplasia, Fairbank Type | Epiphyseal dysplasia Fairbank type | Fairbank disease | Fairbank multiple epiphyseal dysplasia | Voorhoeve dyschondroplasia | Voorhoeve syndrome | cranial sclerosis with striated bone disease | cranial sclerosis-osteopathia striata macrocephaly syndrome | hyperostosis generalisata with striations | megalencephaly-cranial sclerosis-osteopathia striata syndrome | osteopathia striata with cranial sclerosis | osteopathia striata-deafness-cranial osteopetrosis syndrome | osteopathia striata-macrocephaly-cranial sclerosis syndrome | osteorhabdotosis JABL99:A severe bone dysplasia in which osteopathia striata is associated with cranial sclerosis, dysmorphic facies, cleft palate, deafness, heart defects, and vertebral anomalies with variability of expression. Neurological findings range from normal development to psychomotor retardation and hydrocephalus. MSH2017_2016_08_12:C536393|OMIM2016_04_17:132400 C4280623 Rotting teeth Rotting teeth HPO2016_07_04:HP:0000670 C0029001 Onchocerciasis Infection by Onchocerca volvulus | Infection by Onchocerca volvulus (disorder) | Infection caused by Onchocerca volvulus | Infection caused by Onchocerca volvulus (disorder) | ONCHOCERCIASIS | ONCHOCERCOSIS | Onchocerca volvulus infection | Onchocerca; infestation | Onchocerciases | Onchocerciasis | Onchocerciasis [Disease/Finding] | Onchocercosis | Robles | infestation; Onchocerca | onchocerciasis | onchocerciasis (diagnosis) | onchocercosis | volvulosis CSP2006:infection with nematodes of the genus Onchocerca; characteristics include the presence of firm subcutaneous nodules filled with adult worms, pruritus, and ocular lesions. | MSH2017_2016_08_12:Infection with nematodes of the genus ONCHOCERCA. Characteristics include the presence of firm subcutaneous nodules filled with adult worms, PRURITUS, and ocular lesions. ICD10CM_2017:B73|ICD9CM_2014:125.3|MSH2017_2016_08_12:D009855|SNOMEDCT_US_2016_09_01:38539003 C1839025 Decreased amplitudes on flash visual electroretinogram Decreased ERG amplitude | Decreased amplitudes on flash visual electroretinogram | Decreased electroretinogram | Decreased electroretinogram amplitude | Decreased electroretinogram response | Decreased light- and dark-adapted electroretinogram amplitude | Flattened or absent electroretinogram | Reduced ERG | Reduced electroretinogram | Reduced electroretinogram (ERG) | Reduced or abolished electroretinogram HPO2016_07_04:Descreased amplitude of eletrical response upon electroretinography. [HPO:probinson] HPO2016_07_04:HP:0000654|OMIM2016_04_17:MTHU006774|OMIM2016_04_17:MTHU023693 C0574109 Glycerol kinase deficiency - contiguous gene syndrome Glycerol kinase deficiency - contiguous gene syndrome | Glycerol kinase deficiency - contiguous gene syndrome (disorder) SNOMEDCT_US_2016_09_01:297257004 C1332308 Anterior optic tract meningioma Anterior Optic Tract Meningioma | Anterior Visual Pathway Meningioma NCI2016_02D:A meningioma that affects the anterior visual pathway. C0003499 Supravalvular aortic stenosis Aortic Stenosis, Supravalvular | Aortic Stenosis, Supravalvular [Disease/Finding] | Aortic Supravalvular Stenoses | Aortic Supravalvular Stenosis | SUPRAVALVULAR AORTIC STENOSIS | SVAS | SVAS - Supravalvar aortic stenosis | Stenoses, Aortic Supravalvular | Stenosis, Aortic Supravalvular | Stenosis, Supravalvular Aortic | Supra-aortic stenosis | Supra-valvular aortic stenosis | Supravalvar Aortic Stenosis | Supravalvar aortic stenosis | Supravalvar aortic stenosis (diagnosis) | Supravalvar aortic stenosis (disorder) | Supravalvular Aortic Stenosis | Supravalvular Stenoses, Aortic | Supravalvular Stenosis, Aortic | Supravalvular aorta constricted | Supravalvular aortic stenosis | aortic stenosis supra valvular | aortic stenosis supravalvar | supra-valvular aortic stenosis | supravalvar aortic stenosis | supravalvular aortic stenosis HPO2016_07_04:A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. [HPO:probinson] | MSH2017_2016_08_12:A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. | NCI2016_02D:A rare, congenital or acquired aortic stenosis characterized by localized or diffuse narrowing of the ascending aorta. HPO2016_07_04:HP:0004381|ICD10CM_2017:Q25.3|MSH2017_2016_08_12:D021921|OMIM2016_04_17:130160|OMIM2016_04_17:185500|OMIM2016_04_17:MTHU014953|SNOMEDCT_US_2016_09_01:204436002|SNOMEDCT_US_2016_09_01:268185002 C3806583 Poor bladder function Functional abnormality of the bladder | Poor bladder function HPO2016_07_04:Dysfunction of the urinary bladder. [HPO:probinson] HPO2016_07_04:HP:0000009|OMIM2016_04_17:MTHU042210 C0276386 Mosquito-borne viral fever, oropouche Mosquito-borne viral fever, Oropouche | Oropouche fever | Oropouche fever (diagnosis) | Oropouche virus disease | Oropouche virus disease (disorder) | Oropouche; fever | fever; Oropouche ICD10CM_2017:A93.0|SNOMEDCT_US_2016_09_01:72880002 C4024628 Absent epiglottis Absent epiglottis | Aplasia of the epiglottis | absence; epiglottis | agenesis; epiglottis | epiglottis; absent | epiglottis; agenesis HPO2016_07_04:Absence of the epiglottis. [HPO:probinson] HPO2016_07_04:HP:0008753|OMIM2016_04_17:MTHU047427 C1834536 Weakness of the intrinsic hand muscles Weakness of the intrinsic hand muscles HPO2016_07_04:HP:0009005|OMIM2016_04_17:MTHU016910 C0041374 Tumor virus infections Infection, Tumor Virus | Infections, Tumor Virus | Tumor Virus Infection | Tumor Virus Infections | Tumor Virus Infections [Disease/Finding] MSH2017_2016_08_12:Infections produced by oncogenic viruses. The infections caused by DNA viruses are less numerous but more diverse than those caused by the RNA oncogenic viruses. | MSHFRE2016:Infections dues aux virus oncog猫nes. Les infections dues aux virus oncog猫nes 脿 ADN sont moins nombreuses mais plus diverses que celles provoqu茅es par les virus oncog猫nes 脿 ARN. MSH2017_2016_08_12:D014412 C0024862 Masochism Masochism | Masochism [Disease/Finding] | Masochism, NOS | Masochisms | Masochistic behavior | Masochistic behavior (finding) | Masochistic behaviour | [X]Masochism | masochism MSH2017_2016_08_12:Pleasure derived from being physically or psychologically abused, whether inflicted by oneself or by others. Masochism includes sexual masochism. | PSY2004:Pleasure derived from being physically or psychologically abused. MSH2017_2016_08_12:D008398|SNOMEDCT_US_2016_09_01:154907002|SNOMEDCT_US_2016_09_01:192517005|SNOMEDCT_US_2016_09_01:268763002|SNOMEDCT_US_2016_09_01:64031009 C1839865 Bicarbonaturia Bicarbonaturia HPO2016_07_04:Abnormally increased concentration of hydrogencarbonate in the urine. [HPO:probinson] HPO2016_07_04:HP:0003646|OMIM2016_04_17:MTHU007364 C1866519 Diabetes mellitus, insulin-dependent, 15 DIABETES MELLITUS, INSULIN-DEPENDENT, 15 | Diabetes Mellitus, Insulin-Dependent, 15 | IDDM15 | INSULIN-DEPENDENT DIABETES MELLITUS 15 | Insulin-Dependent Diabetes Mellitus 15 MSH2017_2016_08_12:C566645|OMIM2016_04_17:601666 C0152113 Sydenhams chorea CHOREA, ACUTE | CHOREA, MINOR | Chorea, Rheumatic | Chorea, Sydenham | Chorea, Sydenham's | Chorea;Sydenhams | Chorea;rheumatic | Choreas, Rheumatic | Choreas, Sydenham | Rheumatic Chorea | Rheumatic Choreas | Rheumatic chorea | Rheumatic chorea (disorder) | Rheumatic chorea NOS | Rheumatic chorea NOS (disorder) | SAINT VITUS DANCE | SYDENHAM CHOREA | SYDENHAMS CHOREA | St. Vitus Dance | St. Vitus' dance | St. Vitus's Dance | St. Vitus's Dances | St. Vituss Dance | Sydenham Chorea | Sydenham Choreas | Sydenham's Chorea | Sydenham's chorea | Sydenham's chorea (diagnosis) | Sydenham; chorea | Sydenhams Chorea | Sydenhams chorea | acute chorea | chorea minor | chorea sydenhams | chorea; Sydenham | chorea; minor | chorea; rheumatic | dance st vitus | dance st vitus's | minor; chorea | rheumatic chorea | rheumatic; chorea | saint vitus dance | st. vitus' dance | st. vitus's dance | sydenham chorea | sydenham's chorea | sydenhams chorea | vitus dance saint AIR93:WHAT: Chorea. Chorea (Sydenham's): a neurological disorder characterized by purposeless, rapid, involuntary movements, emotional lability, and muscular weakness. WHY: Sydenham's chorea is seen in rheumatic fever. The chorea may be associated with other rheumatic manifestations or it may present as the sole expression of rheumatic fever. HOW: Typically, the onset of chorea is gradual, with irritability, uncooperativeness, fits of anger, crying, and inappropriate behavior present before the choreiform movements are noted. The movements are rapid and jerky, unlike the slower, rhythmic motion seen in athetosis. Characteristically, on raising his arms above the head, the patient turns the arms so as to oppose the backs of the hands. The patient is unable to sustain a tetanic muscular contraction. On squeezing an examiner's hand the patient can only provide a repetitive, spasmodic grip which is overly pronated and is similar to the motion of milking a cow (milk-maid's grip). The patient's facial expression alternates between frowning, grinning and grimacing. His tongue darts in and out of his mouth. His speech is slurred and vacillates between a halting and an explosive rhythm. The deep tendon reflexes tend to be pendular, i.e., when the knee jerk is elicited with the patient sitting, the leg swings back and forth four or five times like a pendulum, rather than one or two times as in a normal person. Chorea is most common prior to puberty, and in females. It is occasionally seen in | CSP2006:acute, usually self-limited disorder of early life, usually between ages 5 and 15, or during pregnancy, and closely linked with rheumatic fever; characterized by involuntary movements that gradually become severe, affecting all motor activities including gait, arm movements, and speech; called also Sydenham's, acute, juvenile, or simple chorea, or St. Vitus dance. ICD10CM_2017:I02|ICD10CM_2017:I02.9|ICD9CM_2014:392|MSH2017_2016_08_12:D002819|SNOMEDCT_US_2016_09_01:155271001|SNOMEDCT_US_2016_09_01:194716004|SNOMEDCT_US_2016_09_01:46826000 C1868681 Dystonia 12 DYSTONIA 12 | DYSTONIA-PARKINSONISM, RAPID-ONSET | DYT12 | DYT12 - dystonia 12 | Dystonia 12 | Dystonia-Parkinsonism, Rapid-Onset | Dyt12 | RDP | Rapid onset dystonia parkinsonism | Rapid onset dystonia parkinsonism (disorder) | Rapid-Onset Dystonia Parkinsonism | Rapid-onset dystonia-parkinsonism SCTSPA_2016_04_30:Comienzo abrupto de diston铆a con parkinsonismo en un lapso de horas a d铆as. | SNOMEDCT_US_2016_09_01:Abrupt onset of dystonia with parkinsonism over a period of hours to days. MSH2017_2016_08_12:C538001|OMIM2016_04_17:128235|OMIM2016_04_17:182350|SNOMEDCT_US_2016_09_01:702323008 C1833809 Optic atrophy and cataract, autosomal dominant OPA3 | OPTIC ATROPHY 3, AUTOSOMAL DOMINANT | OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT | Opa3, Autosomal Dominant | Optic Atrophy 3, Autosomal Dominant | Optic atrophy and cataract, autosomal dominant | Optic atrophy, cataract, and neurologic disorder MSH2017_2016_08_12:C537128|OMIM2016_04_17:165300|OMIM2016_04_17:606580 C1334271 Intraventricular meningioma Intraventricular Meningioma | Intraventricular Meningiomas | Meningioma, Intraventricular | Meningiomas, Intraventricular | intraventricular meningioma | intraventricular meningioma (diagnosis) NCI2016_02D:A meningioma that affects the ventricles of the brain. MSH2017_2016_08_12:D008579 C1853144 Deafness, congenital, with inner ear agenesis, microtia, and microdontia Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia | Congenital deafness with inner ear agenesis, microtia, and microdontia | Congenital deafness with labyrinthine aplasia, microtia and microdontia | Congenital deafness with labyrinthine aplasia, microtia and microdontia (disorder) | DEAFNESS WITH LAMM | DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA | DEAFNESS, CONGENITAL, WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA | Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) | Deafness with Lamm | Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia | Deafness, Congenital, with Labyrinthine Aplasia, Microtia, and Microdontia | LAMM syndrome | Lamm Syndrome MSH2017_2016_08_12:C565195|OMIM2016_04_17:164950|OMIM2016_04_17:610706|SNOMEDCT_US_2016_09_01:702360007 C0561921 Perineal fistula Perineal fistula | Perineal fistula (disorder) | fistula; perineum | fistulas perineal | perineal fistula | perineum; fistula HPO2016_07_04:The presence of a fistula between the bowel and the perineum. [HPO:probinson] HPO2016_07_04:HP:0004871|OMIM2016_04_17:MTHU013659|SNOMEDCT_US_2016_09_01:284077005 C3150973 Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY | STRIATAL NECROSIS, BILATERAL, AND PROGRESSIVE POLYNEUROPATHY | THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) | THMD4 OMIM2016_04_17:606521|OMIM2016_04_17:613710 C1412279 Agl gene AGL | AGL gene | AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFERASE | GDE | GLYCOGEN DEBRANCHER ENZYME | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | glycogen debranching enzyme | glycogen storage disease type III OMIM2016_04_17:610860 C1860127 Impaired t cell function Impaired T cell function | T cell dysfunction | T-cell dysfunction HPO2016_07_04:HP:0005435|OMIM2016_04_17:MTHU014776|OMIM2016_04_17:MTHU031370|OMIM2016_04_17:MTHU044103 C0334106 Bowenoid papulosis Bowenoid Papulosis | Bowenoid papulosis | Bowenoid papulosis (diagnosis) | Bowenoid papulosis (disorder) | Bowenoid papulosis (morphologic abnormality) | human papilloma virus-associated intraepithelial neoplasia bowenoid papulosis SNOMEDCT_US_2016_09_01:402913004|SNOMEDCT_US_2016_09_01:5356000 C0265313 Weill-marchesani syndrome Brachydactyly-spherophakia syndrome | Brachymorphy with spherophakia syndrome | Congenital Mesodermal Dysmorphodystrophies | Congenital Mesodermal Dysmorphodystrophy | Dysmorphodystrophies, Congenital Mesodermal | Dysmorphodystrophy, Congenital Mesodermal | Marchesani | Marchesani Syndrome | Marchesani Weill Syndrome | Marchesani syndrome | Marchesani syndrome (disorder) | Marchesani's syndrome | Marchesani-Weill Syndrome | Marchesani-Weill Syndromes | Mesodermal Dysmorphodystrophies, Congenital | Mesodermal Dysmorphodystrophy, Congenital | Spherophakia Brachymorphia Syndrome | Spherophakia Brachymorphia Syndromes | Spherophakia-Brachymorphia Syndrome | Spherophakia-brachymorphia syn | Spherophakia-brachymorphia syndrome | Syndrome, Spherophakia Brachymorphia | Syndromes, Spherophakia Brachymorphia | WMS - Weill-Marchesani syndr | WMS - Weill-Marchesani syndrome | Weill Marchesani Syndrome | Weill-Marchesani | Weill-Marchesani Syndrome | Weill-Marchesani Syndrome [Disease/Finding] | Weill-Marchesani syndrome | Weill-Marchesani syndrome (diagnosis) | Weill-Marchesani syndrome (disorder) | marchesani syndrome | weill-marchesani syndrome MSH2017_2016_08_12:Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen. | NCI2016_02D:A rare, autosomal recessive or dominant inherited connective tissue disorder. The autosomal recessive variant is caused by mutations in the ADAMTS10 gene. It is characterized by abnormalities in the lens of the eye, short stature, brachydactyly, and joint stiffness. MSH2017_2016_08_12:D056846|SNOMEDCT_US_2016_09_01:205801004|SNOMEDCT_US_2016_09_01:2884008 C3203733 Precordial catch Precordial Catch | Precordial Catch Syndrome | Precordial catch syndrome | Syndrome, Precordial Catch | Texidor Twinge | Texidor's Twinge | precordial catch syndrome | precordial catch syndrome (diagnosis) MSH2017_2016_08_12:D002637 C3495554 Homocarnosinase deficiency CARNOSINASE DEFICIENCY | Carnosinase Deficiency | Carnosinase deficiency | Deficiency of carnosinase | Deficiency of carnosinase (disorder) | Homocarnosinase deficiency | Homocarnosinase deficiency (disorder) | Homocarnosinosis | Serum carnosinase deficiency | carnosinase deficiency MSH2017_2016_08_12:C535328|OMIM2016_04_17:212200|SNOMEDCT_US_2016_09_01:124485003|SNOMEDCT_US_2016_09_01:13271000|SNOMEDCT_US_2016_09_01:237924005|SNOMEDCT_US_2016_09_01:360943000|SNOMEDCT_US_2016_09_01:61764000 C0159039 Spontaneous ecchymoses Spontaneous bruising | Spontaneous bruising (disorder) | Spontaneous bruising (finding) | Spontaneous ecchymoses | Spontaneous ecchymoses NOS | Spontaneous ecchymosis | Spontaneous ecchymosis (finding) | [D]Spontaneous bruising | [D]Spontaneous ecchymoses | [D]Spontaneous ecchymoses (context-dependent category) | [D]Spontaneous ecchymoses (situation) | [D]Spontaneous ecchymoses NOS | [D]Spontaneous ecchymoses NOS (context-dependent category) | [D]Spontaneous ecchymoses NOS (situation) | ecchymosis; spontaneous | spontaneous bruising | spontaneous bruising (symptom) | spontaneous ecchymoses | spontaneous ecchymosis | spontaneous ecchymosis (physical finding) | spontaneous ecchymosis was noted | spontaneous; ecchymosis ICD10CM_2017:R23.3|ICD9CM_2014:782.7|SNOMEDCT_US_2016_09_01:139144008|SNOMEDCT_US_2016_09_01:158258003|SNOMEDCT_US_2016_09_01:158260001|SNOMEDCT_US_2016_09_01:161887000|SNOMEDCT_US_2016_09_01:206905000|SNOMEDCT_US_2016_09_01:206907008|SNOMEDCT_US_2016_09_01:302228007 C0268306 Unconjugated hyperbilirubinemia Hyperbilirubinemia, unconjugated | Indirect Hyperbilirubinemia | Indirect hyperbilirubinaemia | Indirect hyperbilirubinemia | Unconjugated Hyperbilirubinemia | Unconjugated hyperbilirubinaemia | Unconjugated hyperbilirubinemia | Unconjugated hyperbilirubinemia (disorder) | Unconjugated hyperbilirubinemia, NOS | hyperbilirubinemia indirect | indirect hyperbilirubinemia | indirect hyperbilirubinemia (diagnosis) | unconjugated hyperbilirubinemia HPO2016_07_04:An increased amount of unconjugated (indirect) bilurubin in the blood. [HPO:probinson] | NCI2016_02D:Abnormally high level of unconjugated bilirubin in the blood.(NICHD) | NCI2016_NICHD_1602D:Abnormally high level of unconjugated bilirubin in the blood. HPO2016_07_04:HP:0008282|OMIM2016_04_17:MTHU037532|SNOMEDCT_US_2016_09_01:7752002 C0748331 Renal transplant graft failure RENAL TRANSPLANT GRAFT FAILURE C3897754 Recurrent childhood gemistocytic astrocytoma Recurrent Childhood Gemistocytic Astrocytoma NCI2016_02D:The reemergence of gemistocytic astrocytoma in childhood after a period of remission. C0030584 Parovarian cyst Cyst, Parovarian | Cyst, fimbrial | Cyst, parovarian | Cysts, Parovarian | Embryonic fimbrial cyst | Embryonic fimbrial cyst (disorder) | Fimbrial cyst | PAROVARIAN CYST | Parovarian Cyst | Parovarian Cyst [Disease/Finding] | Parovarian Cysts | Parovarian cyst | Parovarian cyst (disorder) | cyst; fimbrial | cysts fimbrial | fimbrial cyst | fimbrial; cyst | parovarian cyst | parovarian cysts MSH2017_2016_08_12:A cyst (CYSTS) near the OVARY, derived from anomalies of the FALLOPIAN TUBES or the BROAD LIGAMENT. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni). ICD10CM_2017:Q50.4|ICD10CM_2017:Q50.5|MSH2017_2016_08_12:D010310|SNOMEDCT_US_2016_09_01:204831002|SNOMEDCT_US_2016_09_01:64233004 C1510784 Adenocarcinoma of the epididymis Adenocarcinoma of the Epididymis | Epididymal Adenocarcinoma | adenocarcinoma of epididymis | adenocarcinoma of epididymis (diagnosis) NCI2016_02D:A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain. C1301262 Disorder of anal region Disorder of anal region | Disorder of anal region (disorder) SNOMEDCT_US_2016_09_01:397174009 C0235909 Development psychomotor impaired DEVELOPMENT PSYCHOMOTOR IMPAIRED | Development psychomotor impaired | Impaired psychomotor development | Impaired psychomotor development (finding) | PSYCHOMOTOR DEVELOPMENT IMPAIRED | Psychomotor development impaired OMIM2016_04_17:MTHU022795|SNOMEDCT_US_2016_09_01:2806008 C4047486 Herpes zoster of skin of neck Herpes zoster of skin of neck | Herpes zoster of skin of neck (disorder) SNOMEDCT_US_2016_09_01:2490001000004101 C0795822 8 rec syndrome 8 rec syndrome | 8 recombinant syndrome | CHROMOSOME 8q22.1-qter DUPLICATION AND 8pter-p23.1 DELETION | REC8 SYNDROME | RECOMBINANT CHROMOSOME 8 SYNDROME | Rec(8) Syndrome | Recombinant 8 Syndrome | Recombinant chromosome 8 syndrome | Recombinant chromosome 8 syndrome (disorder) | SAN LUIS VALLEY SYNDROME | San Luis Valley recombinant chromosome 8 syndrome | San Luis Valley syndrome | chromosome 8 recombinant syndrome | rec(8) syndrome | recombinant 8 syndrome | recombinant chromosome 8 syndrome JABL99:Recombinant chromosome 8 with developmental delay, minor facial anomalies, eye abnormalities, high frequency otitis media and hearing loss, congenital heart disease, and genitourinary anomalies. All thus far observed cases have been in patients of Hispanic origin in south-western United States. | SNOMEDCT_US_2016_09_01:Recombinant 8 syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 with characteristics of major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. The prevalence is unknown but the syndrome is rare. MSH2017_2016_08_12:C535296|OMIM2016_04_17:179613|SNOMEDCT_US_2016_09_01:718189004 C3809490 Chromosome 3q13.31 deletion syndrome CHROMOSOME 3q13.31 DELETION SYNDROME OMIM2016_04_17:615433 C2931207 Usher syndrome, type 1c Usher syndrome, Acadian variety | Usher syndrome, type 1C | usher syndrome - type 1c | usher syndrome - type 1c (diagnosis) MSH2017_2016_08_12:C536486 C0345904 Malignant neoplasm of liver CA - Liver cancer | CANCER, HEPATOCELLULAR | Cancer of Liver | Cancer of the Liver | Cancer, Hepatic | Cancer, Hepatocellular | Cancer, Liver | Cancers, Hepatic | Cancers, Hepatocellular | Cancers, Liver | HEPATIC NEOPLASM MALIGNANT | Hepatic Cancer | Hepatic Cancers | Hepatic cancer | Hepatic neoplasm malignant | Hepatic neoplasm malignant NOS | Hepatic neoplasms malignant | Hepatic tumor malignant | Hepatic tumour malignant | Hepatocellular Cancer | Hepatocellular Cancers | LIVER CANCER | Liver Cancer | Liver Cancers | Liver cancer | Liver, cancer of | Liver--Cancer | Malig neop liver unspecified | Malignant hepatic neoplasm | Malignant liver tumor | Malignant liver tumour | Malignant neoplasm of liver | Malignant neoplasm of liver (disorder) | Malignant neoplasm of liver unspecified | Malignant neoplasm of liver unspecified (disorder) | Malignant neoplasm of liver, NOS | Malignant neoplasm of liver, not specified as primary or secondary | Malignant neoplasm of liver, unspecified | Malignant tumor of liver | Malignant tumor of liver (disorder) | Malignant tumour of liver | Neoplasm malig;liver | cancer of the liver | hepatic cancer | liver cancer | liver cancer (diagnosis) | liver cancers | liver malignant tumors | liver neoplasm malignant | liver tumor or cancer | malignant neoplasm of liver | malignant neoplasm of liver (diagnosis) | malignant neosplasm of the liver | malignant tumor of liver MEDLINEPLUS_20151021:Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Primary liver cancer starts in the liver. Metastatic liver cancer starts somewhere else and spreads to your liver.
Risk factors for primary liver cancer include
Symptoms can include a lump or pain on the right side of your abdomen and yellowing of the skin. However, you may not have symptoms until the cancer is advanced. This makes it harder to treat. Doctors use tests that examine the liver and the blood to diagnose liver cancer. Treatment options include surgery, radiation, chemotherapy, or liver transplantation.
NIH: National Cancer Institute
HPO2016_07_04:HP:0002896|ICD10CM_2017:C22.9|ICD9CM_2014:155.2|MSH2017_2016_08_12:D008113|OMIM2016_04_17:114550|SNOMEDCT_US_2016_09_01:187779006|SNOMEDCT_US_2016_09_01:363361004|SNOMEDCT_US_2016_09_01:93870000 C2931420 Brachydactylous dwarfism mseleni type Brachydactylous dwarfism Mseleni type | Brachydactylous dwarfism Mseleni type (disorder) | Brachydactylous dwarfs of Mseleni | MSELENI JOINT DISEASE | Mseleni joint disease SNOMEDCT_US_2016_09_01:A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, with features of bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints. Manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly has been reported in a few patients with the disorder. MSH2017_2016_08_12:C537086|OMIM2016_04_17:613342|SNOMEDCT_US_2016_09_01:715470008 C4047600 Pain co-occurrent and due to varicose veins of right leg Pain co-occurrent and due to varicose veins of right leg | Pain co-occurrent and due to varicose veins of right leg (disorder) | Varicose veins of right leg with pain SNOMEDCT_US_2016_09_01:15640221000119106 C2675915 Body mass index quantitative trait locus 13 BMIQ13 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13 OMIM2016_04_17:612459 C1274903 Postmenopausal pruritus Postmenopausal pruritus | Postmenopausal pruritus (disorder) SNOMEDCT_US_2016_09_01:403574001 C3714639 Exit block by ecg finding Exit Block | Exit Block by ECG Finding | Exit Block by EKG Finding | SA Block | SINOATRIAL EXIT BLOCK | Sinoatrial Block | Sinoatrial Exit Block | Sinoatrial Node Exit Block | Sinoatrial exit block NCI2016_02D:An electrocardiographic finding in which impaired conduction or automaticity within the sinus node results in the failure of impulse transmission from the sinoatrial node. This is manifested as dropped P waves during sinus rhythm. (CDISC) | NCI2016_CDISC_1602D:An electrocardiographic finding in which impaired conduction or automaticity within the sinus node results in the failure of impulse transmission from the sinoatrial node. This is manifest as dropped P waves during sinus rhythm. C0006114 Cerebral edema Brain edema | Brain oedema | CEREBRAL EDEMA | Cerebral Edema | Cerebral edema | Cerebral edema (disorder) | Cerebral edema -RETIRED- | Cerebral oedema | Cerebral oedema (disorder) | Cerebral oedema -RETIRED- | EDEMA CEREBRAL | Edema cerebral | Edema, Cerebral | OEDEMA CEREBRAL | Oedema cerebral | brain wet | cerebral edema | cerebral edema (diagnosis) | cerebral oedema | edema cerebral | edema, cerebral | intracranial edema | swelling brain | wet brain HPO2016_07_04:Abnormal accumulation of fluid in the brain. [HPO:curators] | NCI2016_02D:Swelling due to an excessive accumulation of fluid in the brain. | NCI2016_CTCAE_1602D:A disorder characterized by swelling due to an excessive accumulation of fluid in the brain. | NCI2016_NICHD_1602D:Excessive accumulation of fluid in the intracellular and/or extracellular spaces of the brain. HPO2016_07_04:HP:0002181|ICD10CM_2017:G93.6|ICD9CM_2014:348.5|MSH2017_2016_08_12:D001929|OMIM2016_04_17:MTHU007048|SNOMEDCT_US_2016_09_01:123303004|SNOMEDCT_US_2016_09_01:155055009|SNOMEDCT_US_2016_09_01:2032001 C4225259 Smith-kingsmore syndrome MACROCEPHALY, SEIZURES, MENTAL RETARDATION, UMBILICAL HERNIA, AND FACIAL DYSMORPHISM | SKS | SMITH-KINGSMORE SYNDROME OMIM2016_04_17:601231|OMIM2016_04_17:616638 C0155169 Conjunctival hyperemia EYE INFLAMED | Eye inflamed | HYPERAEMIA EYE | HYPEREMIA EYE | Hyperaemia eye | Hyperaemia of eyes | Hyperemia eye | Hyperemia of eyes | Inflamed;eye | OCULAR HYPERAEMIA | OCULAR HYPEREMIA | Ocular hyperaemia | Ocular hyperemia | Ocular hyperemia (disorder) | conjunctival hyperemia | eye inflam | eye inflamed | eye; hyperemia | eyes inflamed | hyperemia; eye | inflamed eye | ocular hyperaemia | ocular hyperemia SNOMEDCT_US_2016_09_01:359610006|SNOMEDCT_US_2016_09_01:76849009 C0338497 Reversed sleep wake cycle Inversion of sleep rhythm | Reversed sleep wake cycle | Reversed sleep-wake cycle | Reversed sleep-wake cycle (disorder) | Sleep rhythm inversion | [D]Sleep rhythm inversion | [D]Sleep rhythm inversion (context-dependent category) | [D]Sleep rhythm inversion (situation) | inversion of sleep rhythm | inversion of sleep rhythm (diagnosis) | inversion; sleep rhythm | sleep rhythm; inversion | sleep; rhythm, inversion ICD10CM_2017:G47.2|SNOMEDCT_US_2016_09_01:158155005|SNOMEDCT_US_2016_09_01:192008004|SNOMEDCT_US_2016_09_01:206752000 C0155843 Retropharyngeal abscess ABSCESS, RETROPHARYNGEAL | Abscess, Retropharyngeal | Abscesses, Retropharyngeal | RETROPHARYNGEAL ABSCESS | Retro-pharyngeal abscess | Retro-pharyngeal abscess NOS | Retropharyngeal Abscess | Retropharyngeal Abscess [Disease/Finding] | Retropharyngeal Abscesses | Retropharyngeal abscess | Retropharyngeal abscess (disorder) | abscess retropharyngeal | abscess; retropharyngeal | retropharyngeal abscess | retropharyngeal abscess (diagnosis) | retropharyngeal abscess (physical finding) | retropharyngeal; abscess MSH2017_2016_08_12:An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries. ICD9CM_2014:478.24|MSH2017_2016_08_12:D017703|SNOMEDCT_US_2016_09_01:18099001 C1846950 Short middle phalanges Brachymesophalangy | Hypoplasia of the middle phalanges of the hand | Hypoplastic middle finger phalanges | Hypoplastic middle phalanges | Hypoplastic middle phalanx | Midphalangeal hypoplasia | Short middle bone of finger | Short middle finger phalanges | Short middle phalanges | Short middle phalanx of finger | Small middle finger phalanges | obsolete Hypoplastic/small phalanges of the 3rd finger HPO2016_07_04:Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. [HPO:probinson] HPO2016_07_04:HP:0005819|HPO2016_07_04:HP:0009449|OMIM2016_04_17:MTHU003197|OMIM2016_04_17:MTHU003702|OMIM2016_04_17:MTHU006909|OMIM2016_04_17:MTHU016621 C1336184 Stage iib large cell carcinoma of lung Stage IIB Large Cell Carcinoma of Lung | Stage IIB Large Cell Carcinoma of the Lung | Stage IIB Large Cell Lung Carcinoma | Stage IIB Large Cell Lung Carcinoma AJCC v7 NCI2016_02D:Stage IIB includes: (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.) C0342277 Diabetes mellitus autosomal dominant type ii (disorder) DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANT | Diabetes Mellitus, Type II, Autosomal Dominant | Diabetes mellitus autosomal dominant type 2 | Diabetes mellitus autosomal dominant type 2 (disorder) | Diabetes mellitus autosomal dominant type II | Diabetes mellitus autosomal dominant type II (disorder) | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2 | MODY - Maturity onset diabetes glucokinase-related | MODY - Maturity onset diabetes in youth type 2 | MODY - Maturity onset diabetes in youth type II | MODY, GLUCOKINASE-RELATED | MODY, Glucokinase-Related | MODY, TYPE 2 | MODY, Type 2 | MODY2 | Maturity onset diabetes in youth type 2 | Maturity onset diabetes in youth type II | Maturity onset diabetes of the young, type 2 | Maturity onset diabetes of the young, type 2 (disorder) | Maturity-Onset Diabetes of the Young, Type 2 | diabetes mellitus autosomal dominant type 2 | diabetes mellitus autosomal dominant type 2 (diagnosis) | maturity-onset diabetes of the young - type 2 | maturity-onset diabetes of the young - type 2 (diagnosis) | type 2 diabetes mellitus autosomal dominant MSH2017_2016_08_12:C564219|OMIM2016_04_17:125851|OMIM2016_04_17:138079|OMIM2016_04_17:610582|SNOMEDCT_US_2016_09_01:237604008|SNOMEDCT_US_2016_09_01:390716007 C4280625 Decreased size of eyeball Decreased size of eyeball | Decreased size of globe of eye HPO2016_07_04:HP:0000568 C3669373 Migraine with persistent visual aura Migraine with persistent visual aura | Migraine with persistent visual aura (disorder) | Persistent migraine aura SNOMEDCT_US_2016_09_01:699314009 C1860615 Hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna Hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna | METAPHYSEAL CHONDRODYSPLASIA, ROSENBERG TYPE | Metaphyseal Chondrodysplasia, Rosenberg Type | Metaphyseal chondroplasia Rosenberg type | Rosenberg Lohr syndrome | Rosenberg-Lohr syndrome | ULNA METAPHYSEAL DYSPLASIA SYNDROME | Ulna metaphyseal dysplasia syndrome | Ulna metaphyseal dysplasia syndrome (disorder) MSH2017_2016_08_12:C536935|OMIM2016_04_17:191420|SNOMEDCT_US_2016_09_01:715242008 C4039032 Status epilepticus due to generalised idiopathic epilepsy Status epilepticus due to generalised idiopathic epilepsy | Status epilepticus due to generalized idiopathic epilepsy | Status epilepticus due to generalized idiopathic epilepsy (disorder) SNOMEDCT_US_2016_09_01:290691000119104 C0268336 Ehlers-danlos syndrome type 2 Cutis hyperelastica II, mitis type | Ehlers Danlos Syndrome, MITIS Type | Ehlers Danlos Syndrome, Mild Classic Type | Ehlers-Danlos Syndrome, Type II | Ehlers-Danlos syndrome type 2 | Ehlers-Danlos syndrome type II | Ehlers-Danlos syndrome, MITIS type | Ehlers-Danlos syndrome, mild classic form | Ehlers-Danlos syndrome, mild classic type | Ehlers-Danlos syndrome, mitis | Ehlers-Danlos syndrome, type 2 | Ehlers-Danlos syndrome, type 2 (disorder) | Ehlers-Danlos syndrome, type II | Ehlers-Danlos syndrome, type II (diagnosis) | type II Ehlers-Danlos syndrome NCI2016_02D:Ehlers-Danlos syndrome, type II belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene. MSH2017_2016_08_12:C536195|SNOMEDCT_US_2016_09_01:20766005 C0342869 Deficiency of acetyl-coa acyltransferase (disorder) Acetyl-CoA: acyltransferase deficiency | Acetyl-CoA: acyltransferase deficiency (disorder) | Beta ketothiolase deficiency | Deficiency of 3-ketoacyl-CoA thiolase | Deficiency of acetyl-CoA acyltransferase | Deficiency of acetyl-CoA acyltransferase (disorder) | Deficiency of acetyl-coenzyme A acyltransferase | Deficiency of acetyl-coenzyme A acyltransferase (disorder) | Deficiency of beta-ketothiolase SNOMEDCT_US_2016_09_01:124265004|SNOMEDCT_US_2016_09_01:32053001|SNOMEDCT_US_2016_09_01:398294009 C0855011 Chondrosarcoma, localized Chondrosarcoma localised | Chondrosarcoma localized | Chondrosarcoma, Localized | Localized Chondrosarcoma NCI2016_02D:A non-disseminated skeletal or extraskeletal chondrosarcoma. C0043049 Water intoxication WATER INTOXICATION | Water Intoxication | Water Intoxication [Disease/Finding] | Water intoxication | Water intoxication syndrome | Water intoxication syndrome (disorder) | intoxication; water | water intoxication | water; intoxication MSH2017_2016_08_12:A condition resulting from the excessive retention of water with sodium depletion. MSH2017_2016_08_12:D014869|SNOMEDCT_US_2016_09_01:71785001 C0033772 Prurigo papule, nos Prurigo papule | Prurigo papule (disorder) | Prurigo papule, NOS SNOMEDCT_US_2016_09_01:43118004 C0033927 Psychopathology Abnormal Psychology | PSYCHOPATHOLOGY | Psychology, Pathological | Psychopathology | abnormal psychology | pathological psychology | psychology abnormal | psychopathology CSP2006:the study of disorders of the psyche. | CSP2006:the study of signifigant causes and processes in the development of mental illness. | MSH2017_2016_08_12:The study of significant causes and processes in the development of mental illness. | NCI2016_02D:The branch of pathology focusing on mental illness and abnormal behavior. | PSY2004:Branch of psychology concerned with the study of mental disorders. | PSY2004:Study of mental disorders, emotional problems, or maladaptive behaviors. Used for the scientific discipline or for unspecified dysfunctions. MSH2017_2016_08_12:D011599 C1833486 Microtia-anotia MICROTIA-ANOTIA | Microtia-Anotia MSH2017_2016_08_12:C563457|OMIM2016_04_17:600674 C1856963 Fragile nails Brittle nails | Fragile nails HPO2016_07_04:Nails that easily break. [HPO:probinson] HPO2016_07_04:HP:0001808|OMIM2016_04_17:MTHU013144 C2347507 Philadelphia positive childhood acute lymphoblastic leukemia Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 | Childhood B-Cell Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 | Philadelphia Positive Childhood Acute Lymphoblastic Leukemia | Philadelphia Positive Childhood Precursor Lymphoblastic Leukemia NCI2016_02D:A B-cell acute leukemia occurring in childhood. It is characterized by the presence of lymphoblasts that carry a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome. C2931183 Faces syndrome FACES syndrome MSH2017_2016_08_12:C536384 C3553381 Stut3 STUT3 | STUTTERING, FAMILIAL PERSISTENT, 3 OMIM2016_04_17:614655 C1334546 Acinic cell adenocarcinoma of major salivary gland Acinic Cell Adenocarcinoma of Major Salivary Gland | Acinic Cell Adenocarcinoma of the Major Salivary Gland | Acinic Cell Carcinoma of Major Salivary Gland | Acinic Cell Carcinoma of the Major Salivary Gland | Major Salivary Gland Acinic Cell Adenocarcinoma | Major Salivary Gland Acinic Cell Carcinoma NCI2016_02D:An adenocarcinoma with serous acinar cell differentiation that arises from the major salivary glands. The vast majority of cases occur in the parotid gland. Patients usually present with a slow growing mass in the parotid area. C1833218 Diabetes mellitus, insulin-dependent, 8 DIABETES MELLITUS, INSULIN-DEPENDENT, 8 | Diabetes Mellitus, Insulin-Dependent, 8 | IDDM8 | INSULIN-DEPENDENT DIABETES MELLITUS 8 | Insulin-Dependent Diabetes Mellitus 8 MSH2017_2016_08_12:C563433|OMIM2016_04_17:600883 C0031350 Pharyngitis Inflamed throat | Inflamed throat (disorder) | Inflamed throat (finding) | Inflamed;throat | Inflammation;throat | PHARYNGEAL INFLAMMATION | PHARYNGITIS | Pharyngeal inflammation | Pharyngitides | Pharyngitis | Pharyngitis (disorder) | Pharyngitis NOS | Pharyngitis [Disease/Finding] | Pharyngitis, NOS | Pharynx inflamed | Sore Throat | infection throat | infections throat | inflamed throat | inflamed throats | inflammation of pharynx | inflammation of pharynx (physical finding) | inflammation of the throat | inflammation throat | inflammation; pharynx | inflammation; throat | irritation of the throat | pharyngeal inflammation | pharyngitis | pharyngitis (diagnosis) | pharynx inflammation | pharynx; inflammation | sore throat | soreness throat | throat infection | throat inflamed | throat inflammation | throat soreness | throat; inflammation CSP2006:inflammation of the throat. | MSH2017_2016_08_12:Inflammation of the throat (PHARYNX). | NCI2016_02D:Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma. | NCI2016_CTCAE_1602D:A disorder characterized by inflammation of the throat. | NCI2016_NICHD_1602D:Inflammation of the throat. MSH2017_2016_08_12:D010612|OMIM2016_04_17:MTHU007438|SNOMEDCT_US_2016_09_01:141458004|SNOMEDCT_US_2016_09_01:164261009|SNOMEDCT_US_2016_09_01:37616004|SNOMEDCT_US_2016_09_01:405737000 C1832736 Congenital disorder of glycosylation, type id CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV, FORMERLY | CDG Id | CDG1D | CDGId | CDGS, TYPE IV, FORMERLY | CDGS4, FORMERLY | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | Carbohydrate-deficient glycoprotein syndrome, type 4 | Congenital Disorder Of Glycosylation, Type ID | Congenital disorder of glycosylation type 1D MSH2017_2016_08_12:C535742|OMIM2016_04_17:601110|OMIM2016_04_17:608750 C0027672 Neoplastic syndromes, hereditary Cancer Syndrome, Hereditary | Cancer Syndromes, Hereditary | Familial Neoplastic Syndrome | Familial Tumor Syndrome | Hereditary Cancer Syndrome | Hereditary Cancer Syndromes | Hereditary Neoplastic Syndrome | Hereditary Neoplastic Syndromes | Hereditary Tumor Syndrome | Hereditary cancer-predisposing syndrome | Hereditary cancer-predisposing syndrome (disorder) | Hereditary neoplastic syndrome | Neoplastic Syndrome, Hereditary | Neoplastic Syndromes, Hereditary | Neoplastic Syndromes, Hereditary [Disease/Finding] | Syndrome, Hereditary Cancer | Syndrome, Hereditary Neoplastic | Syndromes, Hereditary Cancer | Syndromes, Hereditary Neoplastic | hereditary neoplastic syndrome | inherited cancer syndrome MSH2017_2016_08_12:The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance. | NCI2016_02D:The inherited predisposition toward getting a tumor. | NCI2016_NCI-GLOSS_1602D:Describes the clinical manifestations associated with a mutation conferring cancer susceptibility. MSH2017_2016_08_12:D009386|SNOMEDCT_US_2016_09_01:699346009 C1839739 Prominent lower lip Full lower lip vermilion | Increased height of lower lip vermilion | Increased volume of lower lip | Increased volume of lower lip vermilion | Plump lower lip | Prominent lower lip | Prominent lower lip vermilion | Thick lower lip | Thick lower lip vermilion | Thick red part of the lower lip | Thick vermilion border of lower lip HPO2016_07_04:Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). [HPO:curators, pmid:19125428] HPO2016_07_04:HP:0000179|OMIM2016_04_17:MTHU007231|OMIM2016_04_17:MTHU021640 C0268743 Membranoproliferative glomerulonephritis, type ii DDD MPGNII | Dense Deposit Disease | Dense deposit disease | Glomerulonephritis, membranoproliferative, Type II | MCGN type II - Mesangiocapillary glomerulonephritis type II | MCGNdd - Mesangiocapillary glomerulonephritis, dense deposit | MPGNII | Membranoproliferative Glomerulonephritis Type 2 | Membranoproliferative Glomerulonephritis Type II | Membranoproliferative Glomerulonephritis, Type II | Membranoproliferative glomerulonephritis type II | Mesangiocapillary Glomerulonephritis Type 2 | Mesangiocapillary Glomerulonephritis, Type II | Mesangiocapillary glomerulonephritis type II | Mesangiocapillary glomerulonephritis, type II | Mesangiocapillary glomerulonephritis, type II (diagnosis) | Mesangiocapillary glomerulonephritis, type II (disorder) | Type II MPGN | glomerulonephritis mesangiocapillary type ii HPO2016_07_04:A type of membranoproliferative glomerulonephritis characterized by electron dense deposits at the glomerular basement membrane. [Eurenomics:ewuehl, pmid:20301598] | MSH2017_2016_08_12:A type of mesangiocapillary glomerulonephritis that is characterized by the dark bands of electron-dense deposits in the GLOMERULAR BASEMENT MEMBRANE caused by autoantibodies against ALTERNATIVE PATHWAY C3 CONVERTASE (C3bBb). | NCI2016_02D:Proliferative glomerulonephritis characterized by activation of the alternative complement pathway, resulting in mesangial hypercellularity, endocapillary proliferation, and glomerular basement membrane intramembranous highly electron dense deposits.(NICHD) | NCI2016_NICHD_1602D:Proliferative glomerulonephritis characterized by activation of the alternative complement pathway, resulting in mesangial hypercellularity, endocapillary proliferation, and glomerular basement membrane intramembranous highly electron dense deposits. HPO2016_07_04:HP:0004746|MSH2017_2016_08_12:D015432|OMIM2016_04_17:MTHU020161|SNOMEDCT_US_2016_09_01:59479006|SNOMEDCT_US_2016_09_01:8756002 C0751083 Duane retraction syndrome, type 2 DUANE RETRACTION SYNDROME 2 | DURS2 | Duane Retraction Syndrome 2 | Duane Retraction Syndrome, Type 2 | Type 2 Duane Retraction Syndrome MSH2017_2016_08_12:D004370|OMIM2016_04_17:118423|OMIM2016_04_17:604356 C4280494 Hypotrophic bridge of nose Hypotrophic bridge of nose | Hypotrophic nasal bridge HPO2016_07_04:HP:0005281 C0339785 Lyme disease of inner ear Lyme disease of inner ear | Lyme disease of inner ear (disorder) | lyme disease of inner ear (diagnosis) SNOMEDCT_US_2016_09_01:232314004 C0007682 Cns disorder CENTRAL NERVOUS SYSTEM DISORDER | CNS DISORDER (NOS) | CNS Disease | CNS Diseases | CNS diseases | CNS disorder | CNS disorder (NOS) | CNS disorder (disorder) | CNS disorders NOS | CNS disorders NOS (disorder) | Central Nervous System Disease | Central Nervous System Diseases | Central Nervous System Diseases [Disease/Finding] | Central Nervous System Disorder | Central Nervous System Disorders | Central nervous system (CNS) disease | Central nervous system (CNS) disorders NOS | Central nervous system (CNS) disorders NOS (disorder) | Central nervous system disease | Central nervous system disorder | Central nervous system disorder (NOS) | Central nervous system disorder NOS | Central nervous system--Diseases | DISORDER CENTRAL NERVOUS SYSTEM | Disease of the central nervous system | Disease of the central nervous system (disorder) | Disease of the central nervous system, NOS | Diseases of the central nervous system | Disorder central nervous system | Disorder of CNS, unspecif | Disorder of Central Nervous System | Disorder of central nervous system NOS | Disorder of central nervous system, unspecified | Disorder of the central nervous system | Disorder of the central nervous system (disorder) | Encephalomyeloneuropathy | Encephalomyeloneuropathy, NOS | NERVOUS SYSTEM DISORDER, CENTRAL | Nervous system disorder, central | [X]Disorder of CNS, unspecif | [X]Disorder of central nervous system, unspecified | [X]Disorder of central nervous system, unspecified (disorder) | central disease nervous system | central disease nervous systems | central diseases nervous system | central disorder nervous system | central disorders nervous system | central nervous system disease | central nervous system diseases | central nervous system disorder | central nervous system disorders | cerebrospinal; disorder | cns disease | cns diseases | cns disorder | cns disorders | disease (or disorder); cerebrospinal | disease (or disorder); nervous system, central | disease central nervous system | disorders of central nervous system | disorders of central nervous system (diagnosis) | encephalomyeloneuropathy | nervous system; disorder, central CSP2006:condition in which there is a deviation from or interruption of the normal structure or function of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord. | MSH2017_2016_08_12:Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord. | NCI2016_02D:A non-neoplastic or neoplastic disorder which affects the brain and/or spinal cord. HPO2016_07_04:HP:0002011|ICD10CM_2017:G96.9|MSH2017_2016_08_12:D002493|SNOMEDCT_US_2016_09_01:138748005|SNOMEDCT_US_2016_09_01:154981003|SNOMEDCT_US_2016_09_01:155049004|SNOMEDCT_US_2016_09_01:155059003|SNOMEDCT_US_2016_09_01:192641002|SNOMEDCT_US_2016_09_01:193076009|SNOMEDCT_US_2016_09_01:194566008|SNOMEDCT_US_2016_09_01:23853001|SNOMEDCT_US_2016_09_01:267144009|SNOMEDCT_US_2016_09_01:267679005|SNOMEDCT_US_2016_09_01:267700003|SNOMEDCT_US_2016_09_01:267702006|SNOMEDCT_US_2016_09_01:275539005 C3150733 Long qt syndrome 13 LONG QT SYNDROME 13 | LQT13 | lqt13 | lqt13 (diagnosis) OMIM2016_04_17:600734|OMIM2016_04_17:613485 C2931374 Al awadi teebi farag syndrome Al Awadi Teebi Farag syndrome | Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence | Teebi Naguib Al Awadi syndrome MSH2017_2016_08_12:C536949 C0007815 Cerebrospinal fluid rhinorrhoea CSF - Cerebrospinal rhinorrhea | CSF - Cerebrospinal rhinorrhoea | CSF Rhinorrhea | CSF Rhinorrheas | CSF rhinorrhea | Cerebrospinal Fluid Rhinorrhea | Cerebrospinal Fluid Rhinorrhea [Disease/Finding] | Cerebrospinal Fluid Rhinorrheas | Cerebrospinal Rhinorrhea | Cerebrospinal Rhinorrheas | Cerebrospinal fluid rhinorrhea | Cerebrospinal fluid rhinorrhea (disorder) | Cerebrospinal fluid rhinorrhoea | Cerebrospinal rhinorrhea | Cerebrospinal rhinorrhoea | Rhinorrhea, CSF | Rhinorrhea, Cerebrospinal | Rhinorrhea, Cerebrospinal Fluid | Rhinorrheas, CSF | Rhinorrheas, Cerebrospinal | Rhinorrheas, Cerebrospinal Fluid | cerebrospinal fluid rhinorrhea | cerebrospinal fluid rhinorrhea (diagnosis) | cerebrospinal fluid rhinorrhoea | cerebrospinal rhinorrhea | cerebrospinal; rhinorrhea | rhinorrhea; cerebrospinal MSH2017_2016_08_12:Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9) | NCI2016_02D:Discharge of cerebrospinal fluid through the nose. ICD9CM_2014:349.81|MSH2017_2016_08_12:D002559|SNOMEDCT_US_2016_09_01:85638002 C4023731 4-5 finger syndactyly 4-5 finger syndactyly | Webbed 4th-5th finger HPO2016_07_04:Syndactyly with fusion of fingers four and five. [HPO:sdoelken] HPO2016_07_04:HP:0010705 C0796012 Krause-kivlin syndrome KRAUSE-KIVLIN SYNDROME | Krause-Kivlin syndrome | Krause-Van Schooneveld-Kivlin Syndrome | Krause-van Schooneveld-Kivlin syndrome | PETERS ANOMALY WITH SHORT-LIMB DWARFISM | PETERS-PLUS SYNDROME | Peters Anomaly With Short-Limb Dwarfism | Peters Anomaly-Short Limb Dwarfism Syndrome | Peters Plus Syndrome | Peters anomaly with short limb dwarfism | Peters anomaly-short limb dwarfism syndrome | Peters plus syndrome | Peters plus syndrome (disorder) | Peters' Plus Syndrome | Peters'-Plus Syndrome | Peters-Plus Syndrome | Peters-plus syndrome | krause-kivlin syndrome | peters plus syndrome JABL99:Peters anomaly (central corneal leukoma, central defect of Descemet's membrane, and shallow anterior chamber with synechiae between the iris and cornea) associated with short limb dwarfism and delayed mental development. | NCI2016_02D:A rare, autosomal recessive inherited syndrome caused by mutations in the B3GALTL gene. It is characterized by abnormalities in the anterior chamber of the eye, short stature, cleft lip with or without cleft palate, distinctive facial features, and intellectual disability. MSH2017_2016_08_12:C537617|OMIM2016_04_17:261540|OMIM2016_04_17:610308|SNOMEDCT_US_2016_09_01:449817000 C0729346 Osteochondrosis Juvenile Osteochondrosis | Juvenile osteochondritis | Juvenile osteochondritis (disorder) | Juvenile osteochondritis NOS | Juvenile osteochondritis NOS (disorder) | Juvenile osteochondritis, NOS | Juvenile osteochondroses NOS | Juvenile osteochondroses NOS (disorder) | Juvenile osteochondrosis | Juvenile osteochondrosis (disorder) | Juvenile osteochondrosis NOS | Juvenile osteochondrosis NOS (disorder) | Juvenile osteochondrosis syndrome | Juvenile osteochondrosis, NOS | Juvenile osteochondrosis, unspecified | Osteochondritis juvenilis | Osteochondritis specified as juvenile of other site, or site NOS | Osteochondropathy-juven | Osteochondrosis juvenilis | Osteochondrosis specified as juvenile of other site, or site NOS | juvenile osteochondrosis | juvenile osteochondrosis (diagnosis) | juvenile; osteochondritis | juvenile; osteochondrosis | osteochondritis; juvenile | osteochondrosis | osteochondrosis; juvenile ICD10CM_2017:M92.9|SNOMEDCT_US_2016_09_01:19579005|SNOMEDCT_US_2016_09_01:203401009|SNOMEDCT_US_2016_09_01:203402002|SNOMEDCT_US_2016_09_01:203403007|SNOMEDCT_US_2016_09_01:270544001|SNOMEDCT_US_2016_09_01:71488003 C0033054 Prenatal exposure delayed effects Delayed Effects, Prenatal Exposure | Late Effects, Prenatal Exposure | Prenatal Exposure Delayed Effects | Prenatal Exposure Delayed Effects [Disease/Finding] MSH2017_2016_08_12:The consequences of exposing the FETUS in utero to certain factors, such as NUTRITION PHYSIOLOGICAL PHENOMENA; PHYSIOLOGICAL STRESS; DRUGS; RADIATION; and other physical or chemical factors. These consequences are observed later in the offspring after BIRTH. MSH2017_2016_08_12:D011297 C0266929 Chronic periodontitis Adult Periodontitides | Adult Periodontitis | Adult periodontitis | Adult periodontitis (disorder) | Adult-onset periodontitis | Chronic Periodontitides | Chronic Periodontitis | Chronic Periodontitis [Disease/Finding] | Chronic pericementitis | Chronic pericementitis (disorder) | Chronic periodontal disease | Chronic periodontitis | Chronic periodontitis (disorder) | Chronic periodontitis NOS | Chronic periodontitis NOS (disorder) | Chronic periodontitis, unspecified | PERIODONTITIS, ADULT | PERIODONTITIS, CHRONIC | Periodontitides, Adult | Periodontitides, Chronic | Periodontitis, Adult | Periodontitis, Chronic | chronic pericementitis | chronic pericementitis (diagnosis) | chronic periodontitis | chronic periodontitis (diagnosis) MSH2017_2016_08_12:Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people. | NCI2016_02D:A chronic inflammatory process that affects the tissues that surround and support the teeth. ICD10CM_2017:K05.3|ICD10CM_2017:K05.30|ICD9CM_2014:523.4|ICD9CM_2014:523.40|MSH2017_2016_08_12:D055113|OMIM2016_04_17:260950|SNOMEDCT_US_2016_09_01:155647003|SNOMEDCT_US_2016_09_01:196365008|SNOMEDCT_US_2016_09_01:196369002|SNOMEDCT_US_2016_09_01:5689008|SNOMEDCT_US_2016_09_01:74797001 C0265756 Congenital atresia of larynx Atresia of larynx | Congenital Atresia of Larynx | Congenital Atresia of the larynx | Congenital atresia of larynx | Congenital atresia of larynx (disorder) | Laryngeal Atresia | Laryngeal atresia | Larynx Atresia | atresia of larynx | atresia of larynx (diagnosis) | atresia; larynx | laryngeal atresia | larynx; atresia HPO2016_07_04:Congenital absence of the lumen of the larynx. [eMedicine:837630, HPO:probinson, pmid:17715321] | NCI2016_02D:A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation. | NCI2016_NICHD_1602D:Laryngeal atresia is a congenital failure of the laryngeal opening to develop, resulting in partial or total obstruction at or just above or below the glottis. HPO2016_07_04:HP:0008750|ICD10CM_2017:Q31.8|OMIM2016_04_17:MTHU013635|SNOMEDCT_US_2016_09_01:64981002 C0392188 Abnormal rapid eye movement sleep Abnormal REM sleep | Abnormal rapid eye movement (REM) sleep | Abnormal rapid eye movement sleep | Abnormal rapid eye movement sleep (finding) | REM SLEEP ANBORMAL | REM sleep abnormal | REM sleep anbormal | Rapid eye movements sleep abnormal | SLEEP REM ABNORMAL | Sleep REM abnormal HPO2016_07_04:Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements. [HPO:curators] HPO2016_07_04:HP:0002494|OMIM2016_04_17:MTHU001404|SNOMEDCT_US_2016_09_01:69020003 C3809701 Ciliary dyskinesia, primary, 27 CILD27 | CILIARY DYSKINESIA, PRIMARY, 27 | CILIARY DYSKINESIA, PRIMARY, 27, WITHOUT SITUS INVERSUS OMIM2016_04_17:611088|OMIM2016_04_17:615504 C4015495 Cerebellofaciodental syndrome CEREBELLAR-FACIAL-DENTAL SYNDROME | CEREBELLOFACIODENTAL SYNDROME | CFDS OMIM2016_04_17:604902|OMIM2016_04_17:616202 C4015261 Polyendocrine-polyneuropathy syndrome PEPNS | POLYENDOCRINE-POLYNEUROPATHY SYNDROME OMIM2016_04_17:616113 C0155379 Nystagmus vestibular Nystagmus associated with disorder of the vestibular system | Nystagmus associated with disorder of the vestibular system (disorder) | Nystagmus associated with disorders of the vestibular system | Nystagmus, vestibular | Vestibular Nystagmus | Vestibular nystagmus | nystagmus vestibular | vestibular nystagmus HPO2016_07_04:Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components. [HPO:curators] HPO2016_07_04:HP:0010542|ICD9CM_2014:379.54|SNOMEDCT_US_2016_09_01:46888001 C1274955 Drug-induced linear iga disease Drug-induced linear IgA disease | Drug-induced linear IgA disease (disorder) | Drug-induced linear immunoglobulin A disease | Drug-induced linear immunoglobulin A disease (disorder) SNOMEDCT_US_2016_09_01:403633007 C0023195 Lecithin acyltransferase deficiency Acyltransferase Deficiency, Lecithin:Cholesterol | Cholesterol ester deficiency disease | Deficiency, LCAT | Deficiency, Lecithin Acyltransferase | Deficiency, alpha-LCAT | Familial lecithin-cholesterol acyl transferase deficiency syndrome | Familial lecithin-cholesterol acyltransferase deficiency | LCAT - Lecithin-cholesterol acyltransferase deficiency | LCAT DEFICIENCY | LCAT Deficiency | LCAT deficiency | LCAT deficiency syndrome | LCATA Deficiencies | LCATA Deficiency | LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY | LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY | Lecithin Acyltransferase Deficiency | Lecithin Acyltransferase Deficiency [Disease/Finding] | Lecithin Cholesterol Acyltransferase Deficiency | Lecithin cholesterol acyltransferase deficiency | Lecithin cholesterol acyltransferase deficiency (disorder) | Lecithin-cholesterol acyltransferase deficiency | Lecithin:Cholesterol Acyltransferase Deficiency | NORUM DISEASE | Norum Disease | Norum disease | Norum's disease | Phosphatidylcholine-sterol acyltransferase deficiency | Phosphatidylcholine-sterol acyltransferase deficiency (disorder) | alpha LCAT Deficiency | alpha-LCAT Deficiency | alpha-Lecithin-Cholesterol Acyltransferase Deficiency | alpha-Lecithin:Cholesterol Acyltransferase Deficiency | deficiency; lecithin cholesterol acyltransferase | familial cholesteryl ester deficiency | lcat deficiency | lecithin acyltransferase deficiency | lecithin cholesterol acyltransferase deficiency | lecithin cholesterol acyltransferase deficiency (diagnosis) | lecithin cholesterol acyltransferase; deficiency | norum disease CSP2006:disease characterized by abnormally low levels of plasma lecithin cholesterol acyl transferase; clinical manifestations include corneal opacity, anemia, and proteinuria. | MSH2017_2016_08_12:An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure. | NCI2016_02D:A disorder of lipoprotein metabolism caused by mutations in the LCAT gene. It is characterized by deficiency of the enzyme lecithin cholesterol acyltransferase. It is manifested with corneal opacity, hemolytic anemia, and proteinuria. ICD10CM_2017:E78.6|MSH2017_2016_08_12:D007863|OMIM2016_04_17:245900|OMIM2016_04_17:606967|SNOMEDCT_US_2016_09_01:238091006|SNOMEDCT_US_2016_09_01:49227001 C0023493 Adult t-cell lymphoma/leukemia ATLL | Adul T-cell leukem/lymphoma | Adult T Cell Lymphoma/Leukemia | Adult T-Cell Leukemia | Adult T-Cell Leukemia-Lymphoma | Adult T-Cell Leukemia-Lymphomas | Adult T-Cell Leukemia/Lymphoma | Adult T-Cell Leukemias | Adult T-Cell Lymphoma/Leukemia | Adult T-cell leukaemia | Adult T-cell leukaemia/lymphoma | Adult T-cell leukaemia/lymphoma (HTLV-1 positive) | Adult T-cell leukaemia/lymphoma (clinical) | Adult T-cell leukemia | Adult T-cell leukemia (disorder) | Adult T-cell leukemia-lymphoma | Adult T-cell leukemia/lymphoma | Adult T-cell leukemia/lymphoma (HTLV-1 positive) | Adult T-cell leukemia/lymphoma (clinical) | Adult T-cell leukemia/lymphoma (diagnosis) | Adult T-cell leukemia/lymphoma (disorder) | Adult T-cell leukemia/lymphoma (morphologic abnormality) | Adult T-cell lymphoma | Adult T-cell lymphoma/leukaemia | Adult T-cell lymphoma/leukaemia (HTLV-1 +) | Adult T-cell lymphoma/leukaemia NOS | Adult T-cell lymphoma/leukemia | Adult T-cell lymphoma/leukemia (HTLV-1 +) | Adult T-cell lymphoma/leukemia (HTLV-1-associated) | Adult T-cell lymphoma/leukemia (HTLV-1-associated) NOS | Adult T-cell lymphoma/leukemia NOS | Adult T-cell lymphomas/leukaemias | Adult T-cell lymphomas/leukemias | HTLV Associated Leukemia Lymphoma | HTLV I Associated T Cell Leukemia Lymphoma | HTLV-1 Associated Adult T-Cell Lymphoma/Leukemia | HTLV-Associated Leukemia-Lymphoma | HTLV-Associated Leukemia-Lymphomas | HTLV-I Associated Adult T-Cell Leukemia/Lymphoma | HTLV-I associated adult T-cell leukemia/lymphoma | HTLV-I-Associated T-Cell Leukemia-Lymphoma | HTLV-I-Associated T-Cell Leukemia-Lymphomas | Human T Cell Leukemia Lymphoma | Human T Lymphotropic Virus Associated Leukemia Lymphoma | Human T Lymphotropic Virus-Associated Leukemia-Lymphoma | Human T-Cell Leukemia-Lymphoma | Human T-Cell Leukemia-Lymphomas | Leukemia Lymphoma, Adult T Cell | Leukemia Lymphoma, T Cell, Acute, HTLV I Associated | Leukemia, Adult T Cell | Leukemia, Adult T-Cell | Leukemia-Lymphoma, Adult T-Cell | Leukemia-Lymphoma, Adult T-Cell [Disease/Finding] | Leukemia-Lymphoma, HTLV-Associated | Leukemia-Lymphoma, HTLV-I-Associated T-Cell | Leukemia-Lymphoma, Human T-Cell | Leukemia-Lymphoma, T-Cell, Acute, HTLV-I-Associated | Leukemia-Lymphomas, Adult T-Cell | Leukemia-Lymphomas, HTLV-Associated | Leukemia-Lymphomas, HTLV-I-Associated T-Cell | Leukemia-Lymphomas, Human T-Cell | Leukemias, Adult T-Cell | T Cell Leukemia Lymphoma, Adult | T Cell Leukemia Lymphoma, HTLV I Associated | T Cell Leukemia, Adult | T-Cell Leukemia, Adult | T-Cell Leukemia-Lymphoma, Adult | T-Cell Leukemia-Lymphoma, HTLV-I-Associated | T-Cell Leukemia-Lymphoma, Human | T-Cell Leukemia-Lymphomas, Adult | T-Cell Leukemia-Lymphomas, HTLV-I-Associated | T-Cell Leukemia-Lymphomas, Human | T-Cell Leukemias, Adult | T-cell leukemia/lymphoma, adult | T-cell; lymphoma, adult | [M]Adul T-cell leukem/lymphoma | [M]Adult T-cell leukaemia/lymphoma | [M]Adult T-cell leukemia/lymphoma | adult T cell leukemia | adult T-cell leukemia | adult T-cell leukemia (diagnosis) | adult T-cell leukemia/lymphoma | adult T-cell; leukemia | adult T-cell; lymphoma | adult t-cell leukemia | adult t-cell leukemias | adult t-cell lymphoma | atll | human T cell leukemia | human t cell leukemia | leukemia adult T-cell | leukemia/lymphoma adult t-cell | leukemia/lymphoma, adult T-cell | leukemia; adult T-cell | lymphoma; T-cell, adult | lymphoma; adult T-cell | t cell acute leukemia | t-all CSP2006:aggressive T-cell malignancy with adult onset, caused by human T lymphotropic virus type 1. | MSH2017_2016_08_12:Aggressive T-Cell malignancy with adult onset, caused by HUMAN T-LYMPHOTROPIC VIRUS 1. It is endemic in Japan, the Caribbean basin, Southeastern United States, Hawaii, and parts of Central and South America and sub-Saharan Africa. | NCI2016_02D:A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1). Adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa. | NCI2016_NCI-GLOSS_1602D:An aggressive (fast-growing) type of T-cell non-Hodgkin lymphoma caused by the human T-cell leukemia virus type 1 (HTLV-1). It is marked by bone and skin lesions, high calcium levels, and enlarged lymph nodes, spleen, and liver. ICD10CM_2017:C91.5|ICD10CM_2017:C91.50|MSH2017_2016_08_12:D015459|SNOMEDCT_US_2016_09_01:110007008|SNOMEDCT_US_2016_09_01:188729005|SNOMEDCT_US_2016_09_01:77430005 C1847383 Lymph nodes lack germinal center Absence of lymph node germinal center | Lymph nodes lack germinal center | Lymph nodes lack germinal centers | Lymphoid germinal center defect HPO2016_07_04:Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses. [HPO:probinson] HPO2016_07_04:HP:0002849|OMIM2016_04_17:MTHU002420|OMIM2016_04_17:MTHU003786 C0175703 Thrombocytopenia-absent radius syndrome Absent radii and thrombocytopenia | CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB | Chromosome 1q21.1 Deletion Syndrome, 200-Kb | Radial Aplasia-Amegakaryocytic Thrombocytopenia | Radial Aplasia-Thrombocytopenia Syndrome | Radial aplasia-thrombocytopenia syndrome | Radial aplasia-thrombocytopenia syndrome (disorder) | TAR | TAR - Thrombocytopenia with absent radius syndrome | TAR SYNDROME | TAR Syndrome | TAR syndrome | TAR; syndrome | THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME | Thrombocytopenia Absent Radii | Thrombocytopenia absent radius syndrome | Thrombocytopenia with absent radii (TAR) syndrome | Thrombocytopenia with absent radius [TAR] syndrome | Thrombocytopenia with absent radius syndrome | Thrombocytopenia-Absent Radius Syndrome | Thrombocytopenia-absent radii syndrome | Thrombocytopenia-absent radius syndrome | absence; radius in thrombocytopenia | syndrome tar | syndrome tars | syndrome; TAR | syndrome; thrombocytopenia with absent radius | tAR syndrome | tar syndrome | thrombocytopenia with absent radius syndrome | thrombocytopenia with absent radius syndrome (diagnosis) | thrombocytopenia-absent radii syndrome | thrombocytopenia-absent radius syndrome | thrombocytopenia; absent radius, syndrome | thrombocytopenia; with absent radius NCI2016_02D:A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radius bone. ICD10CM_2017:Q87.2|MSH2017_2016_08_12:C536940|OMIM2016_04_17:274000|OMIM2016_04_17:605313|SNOMEDCT_US_2016_09_01:85589009 C2936781 Generalized myotonia of thomsen ATAXIA MUSCULARIS | Congenital myotonia | Congenital myotonia (disorder) | Congenital myotonia, NOS | Congenital myotonia, autosomal dominant form | Congenital myotonia, autosomal dominant form (disorder) | Disease, Thomsen | Disease, Thomsen's | Disease, Thomsens | Dominant myotonia congenita [Thomsen disease] | Generalized Myotonia of Thomsen | MYOTONIA CONGENITA | MYOTONIA CONGENITA, AUTOSOMAL DOMINANT | MYOTONIA HEREDITARIA | Myotonia Congenita, Autosomal Dominant | Myotonia congenita | Myotonia congenita - autosomal dominant form | THD | THOMSEN DISEASE | Thomsen Disease | Thomsen Generalized Myotonia | Thomsen myotonia congenita | Thomsen's Disease | Thomsen's disease | Thomsens Disease | myotonia congenita | thomsen disease | thomsen's disease | thomsens disease CSP2006:congenital genetic disease characterized by tonic spasm and rigidity of certain muscles when a voluntary movement is attempted; also known as Thomsen's disease. ICD10CM_2017:G71.12|MSH2017_2016_08_12:D009224|OMIM2016_04_17:118425|OMIM2016_04_17:160800|SNOMEDCT_US_2016_09_01:57938005|SNOMEDCT_US_2016_09_01:72087003 C0038235 Steatitis Inflammation of adipose tissue | Inflammation of adipose tissue (disorder) | Inflammation of fat | Steatitides | Steatitis | Steatitis [Disease/Finding] | steatitis MSH2017_2016_08_12:A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of "ceroid" pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed) MSH2017_2016_08_12:D013231 C3150691 Retinitis pigmentosa 54 RETINITIS PIGMENTOSA 54 | RP54 OMIM2016_04_17:613425|OMIM2016_04_17:613428 C3532946 Moderate receptive language delay Moderate receptive language delay | Moderate receptive language delay (diagnosis) | Moderate receptive language delay (disorder) | developmental - receptive language delay moderate HPO2016_07_04:A moderate delay in the acquisition of the ability to understand the speech of others. [DDD:hvfirth] HPO2016_07_04:HP:0011351|SNOMEDCT_US_2016_09_01:89381000119107 C2931876 Hirschsprung disease 1 Hirschsprung disease 1 | Hirschsprung disease type 1 MSH2017_2016_08_12:C538540 C4025732 Tubulointerstitial abnormality Tubulointerstitial abnormality HPO2016_07_04:An abnormality that involves the tubules and interstitial tissue of the kidney. [HPO:probinson] HPO2016_07_04:HP:0001969 C1836192 Aplasia/hypoplasia involving the metacarpal bones Absent or hypoplastic metacarpals | Absent/small long bones of hand | Absent/underdeveloped long bones of hand | Aplasia/Hypoplasia involving the metacarpal bones | Aplastic/hypoplastic metacarpals | Hypoplastic metacarpal bones | Hypoplastic metacarpals | Hypoplastic/absent metacarpal bones | Hypoplastic/absent metacarpals | Metacarpal aplasia/hypoplasia | Metacarpal hypoplasia | Metacarpal shortening HPO2016_07_04:Aplasia or Hypoplasia affecting the metacarpal bones. [HPO:curators] HPO2016_07_04:HP:0005914|OMIM2016_04_17:MTHU000828|OMIM2016_04_17:MTHU008922|OMIM2016_04_17:MTHU014092|OMIM2016_04_17:MTHU014824|OMIM2016_04_17:MTHU017130|OMIM2016_04_17:MTHU028562|OMIM2016_04_17:MTHU032205|OMIM2016_04_17:MTHU042169 C0026393 Molluscum contagiosum MC - Molluscum contagiosum | MOLLUSCUM CONTAGIOSUM | MOLLUSCUM EPITHELIALE | Mollusca contagiosa | Mollusca contagiosum | Molluscum Contagiosum | Molluscum Contagiosum [Disease/Finding] | Molluscum contagiosum | Molluscum contagiosum (disorder) | Molluscum contagiosum infection | Molluscum contagiosum infection (disorder) | Molluscum contagiosum viral infections | Molluscum contagiosum virus infection | Molluscum contagious | Molluscum verrucosum | WATER WART | contagiosum molluscum | mollusca contagiosa | mollusca contagiosum | molluscum contagiosum | molluscum contagiosum (diagnosis) | molluscum contagious | warts water | water wart MSH2017_2016_08_12:A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (MOLLUSCUM CONTAGIOSUM VIRUS). (Dorland, 27th ed) ICD10CM_2017:B08.1|ICD9CM_2014:078.0|MSH2017_2016_08_12:D008976|SNOMEDCT_US_2016_09_01:154360009|SNOMEDCT_US_2016_09_01:40070004 C1850864 Familial congenital muscular dystrophy with gonadal dysgenesis Familial congenital muscular dystrophy with gonadal dysgenesis | MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM | Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism | Muscular dystrophy, congenital, infantile with cataract and hypogonadism MSH2017_2016_08_12:C537385|OMIM2016_04_17:254000 C0178274 Arterial, arteriole and capillary diseases nos Arterial, arteriole and capillary disease | Arterial, arteriole and capillary disease (disorder) | Arterial, arteriole and capillary diseases NOS | Arterial, arteriole and capillary diseases NOS (disorder) | Artery/arteriole/capillary NOS | Artery/arteriole/capillary dis | DISEASES OF ARTERIES, ARTERIOLES, AND CAPILLARIES | Dis/arts,arteriol+capilaris | Diseases of arteries, arterioles and capillaries | Diseases of arteries, arterioles and capillaries (I70-I79) | Diseases of arteries; arterioles; and capillaries | [X]Dis/arts,arteriol+capilaris | [X]Diseases of arteries, arterioles and capillaries | [X]Diseases of arteries, arterioles and capillaries (disorder) ICD10CM_2017:I70-I79|ICD9CM_2014:440-449.99|SNOMEDCT_US_2016_09_01:155413007|SNOMEDCT_US_2016_09_01:195250004|SNOMEDCT_US_2016_09_01:195392006|SNOMEDCT_US_2016_09_01:195613009|SNOMEDCT_US_2016_09_01:266259002|SNOMEDCT_US_2016_09_01:266317000 C3495591 Charcot-marie-tooth disease, demyelinating, type 1e CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E | CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT | CMT1E | Charcot-Marie-Tooth Disease, Demyelinating, Type 1e | Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant | Cmt1e MSH2017_2016_08_12:C566136|OMIM2016_04_17:118300|OMIM2016_04_17:601097 C0027809 Neurilemmoma Benign Neurilemmoma | Benign Schwannoma | Neurilemmoma | Neurilemmoma (disorder) | Neurilemmoma NOS | Neurilemmoma [Disease/Finding] | Neurilemmoma, NOS | Neurilemmomas | Neurilemoma | Neurilemoma (morphologic abnormality) | Neurilemoma NOS | Neurilemomas | Neurinoma | Neurinomas | Neurolemmoma | Psammomatous schwannoma | SCHWANNOMA | SCHWANNOMA, BENIGN | Schwann cell tumor | Schwann cell tumour | Schwannoma | Schwannoma (WHO Grade I) | Schwannoma (Who Grade I) | Schwannoma (disorder) | Schwannoma, NOS | Schwannomas | ancient schwannoma | neurilemmoma | neurilemmomas | neurilemoma | neurinoma | neurinomas | schwannoma | schwannomas CHV2011_02:a benign tumor that originates from the nervous system | HPO2016_07_04:A benign nerve sheath tumor composed of Schwann cells. [HPO:sdoelken] | MSH2017_2016_08_12:A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5) | NCI2016_02D:A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported. | NCI2016_CDISC_1602D:A benign neoplasm of the peripheral nervous system composed of well-differentiated Schwann cells. | NCI2016_NCI-GLOSS_1602D:A tumor of the peripheral nervous system that arises in the nerve sheath (protective covering). It is almost always benign, but rare malignant schwannomas have been reported. HPO2016_07_04:HP:0100008|MSH2017_2016_08_12:D009442|OMIM2016_04_17:MTHU016798|OMIM2016_04_17:MTHU016867|SNOMEDCT_US_2016_09_01:189948006|SNOMEDCT_US_2016_09_01:404022001|SNOMEDCT_US_2016_09_01:985004 C0240897 Retinal exudates RETINAL EXUDATE | Retinal exudate | Retinal exudates | Retinal exudates (disorder) | retina exudates | retinal exudates | retinal exudates (diagnosis) | retinal exudates (physical finding) | retinal exudates were observed HPO2016_07_04:Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina. [HPO:probinson] HPO2016_07_04:HP:0001146|HPO2016_07_04:HP:0001147|OMIM2016_04_17:MTHU005719|OMIM2016_04_17:MTHU049789|SNOMEDCT_US_2016_09_01:193423005|SNOMEDCT_US_2016_09_01:39832008 C0030554 Paresthesia PARAESTHESIA | PARESTHESIA | PARESTHESIAS | Paraesthesia | Paraesthesia (numbness/tingling) | Paraesthesias | Parasthesia | Paresthesia | Paresthesia (finding) | Paresthesia (numbness/tingling) | Paresthesia [Disease/Finding] | Paresthesias | [D]Paraesthesia | [D]Paraesthesia (situation) | [D]Paresthesia | [D]Paresthesia (context-dependent category) | [D]Paresthesia (situation) | abnormal sensation | paraesthesia | paraesthesias | parasthesia | parasthesias | paresthesia | paresthesias HPO2016_07_04:Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. [HPO:probinson] | MSH2017_2016_08_12:Subjective cutaneous sensations (e.g., cold, warmth, tingling, pressure, etc.) that are experienced spontaneously in the absence of stimulation. | NCI2016_02D:Abnormal cutaneous sensations of tingling, numbness, pressure, cold, and warmth that an individual experiences without the presence of a stimulus. It results from functional disturbances of sensory neurons. Causes include peripheral vascular disease, peripheral neuropathy, and nerve damage. | NCI2016_CTCAE_1602D:A disorder characterized by functional disturbances of sensory neurons resulting in abnormal cutaneous sensations of tingling, numbness, pressure, cold, and warmth that are experienced in the absence of a stimulus. | NCI2016_NCI-GLOSS_1602D:Abnormal touch sensations, such as burning or prickling, that occur without an outside stimulus. | NCI2016_NICHD_1602D:Abnormal cutaneous sensations of tingling, numbness, pressure, cold, and/or warmth. HPO2016_07_04:HP:0003401|MSH2017_2016_08_12:D010292|OMIM2016_04_17:MTHU005827|OMIM2016_04_17:MTHU016055|OMIM2016_04_17:MTHU016084|SNOMEDCT_US_2016_09_01:158228009|SNOMEDCT_US_2016_09_01:206857001|SNOMEDCT_US_2016_09_01:91019004 C1845116 Nystagmus 5, infantile periodic alternating NYS5 | NYSTAGMUS 5, CONGENITAL, X-LINKED | Nystagmus 5, Infantile Periodic Alternating MSH2017_2016_08_12:C564478|OMIM2016_04_17:300589 C1290353 Epiglottis tumor EPIGLOTTIS TUMOR | Epiglottic Neoplasm | Epiglottic Tumor | Epiglottis Neoplasm | Epiglottis Tumor | Neoplasm of Epiglottis | Neoplasm of epiglottis | Neoplasm of epiglottis (disorder) | Neoplasm of the Epiglottis | Tumor of Epiglottis | Tumor of the Epiglottis NCI2016_02D:A benign or malignant neoplasm that affects the epiglottis. SNOMEDCT_US_2016_09_01:126699008 C1849811 Pili torti and developmental delay PILI TORTI AND DEVELOPMENTAL DELAY | Pili torti and developmental delay | Pili torti developmental delay neurological abnormalities MSH2017_2016_08_12:C537398|OMIM2016_04_17:261990 C0205906 Sex bias Bias, Gender | Bias, Sex | Gender Bias | Sex Bias | Sexism | biased gender | gender bia | gender bias | sex bias | sexism MSH2017_2016_08_12:Prejudice or discrimination based on gender or behavior or attitudes that foster stereotyped social roles based on gender. MSH2017_2016_08_12:D063507 C0346647 Malignant neoplasm of pancreas CA - Cancer of pancreas | CA - Pancreatic cancer | Ca pancreas NOS | Ca pancreas NOS (disorder) | Cancer of Pancreas | Cancer of pancreas | Cancer of the Pancreas | Cancer of the pancreas | Cancer, Pancreas | Cancer, Pancreatic | Cancers, Pancreas | Cancers, Pancreatic | Malig neop of pancreas NOS | Malignant Neoplasm of Pancreas | Malignant Neoplasm of the Pancreas | Malignant Pancreatic Neoplasm | Malignant neoplasm of pancreas | Malignant neoplasm of pancreas NOS | Malignant neoplasm of pancreas NOS (disorder) | Malignant neoplasm of pancreas, NOS | Malignant neoplasm of pancreas, part unspecified | Malignant neoplasm of pancreas, unspecified | Malignant neoplasm pancreas | Malignant tumor of pancreas | Malignant tumor of pancreas (disorder) | Malignant tumour of pancreas | Neoplasm malig;pancreas | PANCREAS CANCER | PANCREAS CANCER MALIGNANT | PANCREAS NEOPLASM MALIGNANT | Pancreas Cancer | Pancreas Cancers | Pancreas cancer | Pancreas neoplasm malignant | Pancreas--Cancer | Pancreatic Cancer | Pancreatic Cancers | Pancreatic cancer | cancer of the pancreas | malignant neoplasm of pancreas | malignant neoplasm of pancreas (diagnosis) | malignant neosplasm of the pancreas | malignant pancreatic neoplasm | malignant tumor of pancreas | pancreas ca | pancreas cancer | pancreatic cancer | pancreatic cancers MEDLINEPLUS_20151021:The pancreas is a gland behind your stomach and in front of your spine. It produces the juices that help break down food and the hormones that help control blood sugar levels. Pancreatic cancer usually begins in the cells that produce the juices. Some risk factors for developing pancreatic cancer include
Pancreatic cancer is hard to catch early. It doesn't cause symptoms right away. When you do get symptoms, they are often vague or you may not notice them. They include yellowing of the skin and eyes, pain in the abdomen and back, weight loss and fatigue. Also, because the pancreas is hidden behind other organs, health care providers cannot see or feel the tumors during routine exams. Doctors use a physical exam, blood tests, imaging tests, and a biopsy to diagnose it.
Because it is often found late and it spreads quickly, pancreatic cancer can be hard to treat. Possible treatments include surgery, radiation, chemotherapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells.
NIH: National Cancer Institute
| NCI2016_02D:A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003 HPO2016_07_04:HP:0002894|ICD10CM_2017:C25|ICD10CM_2017:C25.9|ICD9CM_2014:157|ICD9CM_2014:157.9|MSH2017_2016_08_12:D010190|OMIM2016_04_17:MTHU015030|SNOMEDCT_US_2016_09_01:154479008|SNOMEDCT_US_2016_09_01:187800001|SNOMEDCT_US_2016_09_01:269556009|SNOMEDCT_US_2016_09_01:363418001|SNOMEDCT_US_2016_09_01:93938001 C0406336 Psoriasis annularis Psoriasis annularis | Psoriasis annularis (disorder) SNOMEDCT_US_2016_09_01:200962007 C0220687 Kbg syndrome KBG SYNDROME | KBG syndrome | KBGS | MACRODONTIA, MENTAL RETARDATION, CHARACTERISTIC FACIES, SHORT STATURE, AND SKELETAL ANOMALIES | Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies | Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome | Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) | short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome JABL99:Delayed mental development, dwarfism, craniofacial dysmorphism, tooth abnormalities, delayed bone age, and various defects involving the vertebrae and tubular bones. KBG stands for the initials of the affected patients in the original report. MSH2017_2016_08_12:C537015|OMIM2016_04_17:148050|OMIM2016_04_17:611192|SNOMEDCT_US_2016_09_01:711156009 C0022572 Keratoacanthoma KA - Keratoacanthoma | KERATOACANTHOMA | KERATOACANTHOMA, UNDETERMINED | Keratoacanthoma | Keratoacanthoma (disorder) | Keratoacanthoma (morphologic abnormality) | Keratoacanthoma [Disease/Finding] | Keratoacanthoma, NOS | Keratoacanthomas | Molluscum sebaceum | Squamous cell carcinoma, keratoacanthoma-type | keratoacanthoma | keratoacanthoma (diagnosis) | keratoacanthomas CSP2006:benign papular lesion with a superficial crater filled with a keratin plug, usually on the face. | MSH2017_2016_08_12:A benign, non-neoplastic, usually self-limiting epithelial lesion closely resembling squamous cell carcinoma clinically and histopathologically. It occurs in solitary, multiple, and eruptive forms. The solitary and multiple forms occur on sunlight exposed areas and are identical histologically; they affect primarily white males. The eruptive form usually involves both sexes and appears as a generalized papular eruption. | NCI2016_02D:A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin. | NCI2016_CDISC_1602D:An epithelial skin neoplasm, composed of squamous cells, for which the malignancy status has not been established. | NCI2016_NCI-GLOSS_1602D:A rapidly growing, dome-shaped skin tumor that usually occurs on sun-exposed areas of the body, especially around the head and neck. Keratoacanthoma occurs more often in males. Although in most patients it goes away on its own, in a few patients it comes back. Rarely, it may spread to other parts of the body. MSH2017_2016_08_12:D007636|OMIM2016_04_17:MTHU041354|SNOMEDCT_US_2016_09_01:156395005|SNOMEDCT_US_2016_09_01:201061007|SNOMEDCT_US_2016_09_01:201064004|SNOMEDCT_US_2016_09_01:254662007|SNOMEDCT_US_2016_09_01:267858008|SNOMEDCT_US_2016_09_01:58220003 C2676466 Pontocerebellar hypoplasia type 2b PCH2B | PONTOCEREBELLAR HYPOPLASIA, TYPE 2B | Pontocerebellar Hypoplasia Type 2B MSH2017_2016_08_12:C567325|OMIM2016_04_17:608753|OMIM2016_04_17:612389 C2675055 Best vitelliform macular dystrophy, multifocal BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL | BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (disorder) | Best Vitelliform Macular Dystrophy, Multifocal MSH2017_2016_08_12:C567187|OMIM2016_04_17:153700 C0401139 Symptomatic disorders of the gastrointestinal tract Symptomatic disorders of the gastrointestinal tract | Symptomatic disorders of the gastrointestinal tract (disorder) SNOMEDCT_US_2016_09_01:236060008 C4023457 Short face Decreased height of face | Decreased length of face | Decreased vertical dimension of face | Short face | Short facies | Vertical Facial Deficiency | Vertical deficiency of face | Vertical facial insufficiency | Vertical hypoplasia of face | Vertical insufficiency of face | Vertical shortening of face HPO2016_07_04:Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective). [pmid:19125436] HPO2016_07_04:HP:0011219 C0271285 Microscopic cystic corneal dystrophy Cogan microcystic dystrophy | Cogan's corneal dystrophy | Cogan's epithelial dystrophy of cornea | Cogan's epithelial dystrophy of cornea (physical finding) | Cogan-Guerry syndrome | Corneal dystrophy, microscopic cystic | Corneal epithelial basement membrane dystrophy | EBMD - Corneal epithelial basement membrane dystrophy | MDF - Map dot fingerprint corneal dystrophy | MDF - Map-dot-fingerprint corneal dystrophy | Map-dot-fingerprint corneal dystrophy | Microcystic corneal dystrophy syndrome | Microcystoid epithelial dystrophy | Microscopic cystic corneal dystrophy | Microscopic cystic corneal dystrophy (disorder) HPO2016_07_04:HP:0007690|SNOMEDCT_US_2016_09_01:32935005 C0524851 Neurodegenerative disorders Degenerative Condition, Neurologic | Degenerative Conditions, Neurologic | Degenerative Diseases and Syndromes of Nervous System | Degenerative Diseases, Nervous System | Degenerative Diseases, Neurologic | Degenerative Neurologic Disease | Degenerative Neurologic Diseases | Degenerative Neurologic Disorder | Degenerative Neurologic Disorders | Degenerative disease of nervous system, unspecified | Degenerative disease or syndrome of nervous system | NEURODEGENERATIVE DISORDER | Nervous System Degenerative Diseases | Neurodegenerative Disease | Neurodegenerative Diseases | Neurodegenerative Diseases [Disease/Finding] | Neurodegenerative Disorder | Neurodegenerative Disorders | Neurodegenerative disease | Neurodegenerative diseases | Neurodegenerative disorder | Neurodegenerative disorders | Neurologic Degenerative Condition | Neurologic Degenerative Conditions | Neurologic Degenerative Disease | Neurologic Degenerative Diseases | Neurologic Disease, Degenerative | Neurologic Diseases, Degenerative | Neurologic Disorder, Degenerative | Neurologic Disorders, Degenerative | degenerative disease nervous system | degenerative disease of nervous system | degenerative disease of nervous system (diagnosis) | degenerative disorders neurologic | degenerative neurologic diseases | degenerative neurologic disorder | disease neurodegenerative | diseases neurodegenerative | neurodegenerative disease | neurodegenerative diseases | neurodegenerative disorder | neurodegenerative disorders LNC256:Neurodegenerative disorders, such as Hunter syndrome, or sensory motor neuropathies, such as Friedreich ataxia and Charcot-Marie-Tooth syndrome. | MSH2017_2016_08_12:Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. | PSY2004:Neurologic disorders characterized by progressive nervous system dysfunction and loss of neural tissue. HPO2016_07_04:HP:0002180|ICD10CM_2017:G31.9|MSH2017_2016_08_12:D019636 C0410653 Atlantoaxial instability Atlantoaxial instability | Atlantoaxial instability (disorder) | atlantoaxial instability HPO2016_07_04:Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. [HPO:probinson] HPO2016_07_04:HP:0003467|OMIM2016_04_17:MTHU003439|SNOMEDCT_US_2016_09_01:202820009 C2677588 Pyloric stenosis, infantile hypertrophic, 3 IHPS3 | PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 3 | Pyloric Stenosis, Infantile Hypertrophic, 3 MSH2017_2016_08_12:C567435|OMIM2016_04_17:612017 C2676732 Spastic paraplegia 38, autosomal dominant (disorder) SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT | SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT (disorder) | SPG38 | Spastic Paraplegia 38, Autosomal Dominant MSH2017_2016_08_12:C567349|OMIM2016_04_17:612335 C1266178 Gliofibroma Gliofibroma | Gliofibroma (morphologic abnormality) NCI2016_02D:An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma). SNOMEDCT_US_2016_09_01:128909006 C2987193 Pancreatic intraductal papillary mucinous neoplasm, intestinal-type Pancreatic Intraductal Papillary Mucinous Neoplasm, Intestinal-Type NCI2016_02D:A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form tall papillae, similar to those that are present in colonic villous adenomas. C2748545 Question mark ears, isolated AURICULAR CLEFT, CONGENITAL | COSMAN DEFORMITY OF THE AURICLE | EARS, PROMINENT AND CONSTRICTED | QME | QUESTION MARK EARS, ISOLATED OMIM2016_04_17:131240|OMIM2016_04_17:612798 C0917715 Hajdu-cheney syndrome ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE | ARTHRODENTOOSTEODYSPLASIA | Acroosteolysis with Osteoporosis and Changes in Skull and Mandible | Arthro-dento-osteo dysplasia | Arthro-dento-osteo dysplasia syndrome | Arthrodentoosteodysplasia | Arthrodentoosteodysplasias | CHENEY SYNDROME | Cheney Syndrome | Cheney syndrome | HAJDU-CHENEY SYNDROME | HJCYS | Hajdu Cheney Syndrome | Hajdu-Cheney Syndrome | Hajdu-Cheney Syndrome [Disease/Finding] | Hajdu-Cheney syndrome | Hajdu-Cheney syndrome (HCS) | Hajdu-Cheney syndrome (disorder) | Multicentric Osteolyses | Multicentric Osteolysis | Osteolyses, Multicentric | Osteolysis, Multicentric | acro-osteolysis-osteoporosis-changes in skull and mandible | arthrodento-osteodysplasia | arthrodento-osteodysplasia (ADOD) | cheney hajdu syndrome | cheney syndrome | cranioskeletal dysplasia with acro-osteolysis | hajdu cheney syndrome | hajdu-cheney syndrome | hajdu-cheney syndrome (diagnosis) | hereditary osteodysplasia with acro-osteolysis | osteopathia dysplastica familiaris JABL99:An osteolytic syndrome with skull deformities, characteristic facies, osteoporosis, premature loss of teeth, osteoporosis, joint laxity, short stature, dissolution of the terminal phalanges, haring loss, and a hoarse voice. Most patients have a normal mental development but some are mildly retarded. | MSH2017_2016_08_12:Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and skull deformations. | NCI2016_02D:A very rare inherited connective tissue disorder characterized by osteoporosis, skull deformities, short stature, and bone flexibility. MSH2017_2016_08_12:D031845|OMIM2016_04_17:102500|OMIM2016_04_17:600275|SNOMEDCT_US_2016_09_01:63122002 C0393745 Chronic post-traumatic headache Chronic post-traumatic headache | Chronic post-traumatic headache (disorder) | Chronic post-traumatic headache NOS | chronic post-traumatic headache | chronic post-traumatic headache (diagnosis) ICD10CM_2017:G44.32|ICD10CM_2017:G44.329|ICD9CM_2014:339.22|SNOMEDCT_US_2016_09_01:193081000|SNOMEDCT_US_2016_09_01:230477005 C4024784 Amyloid deposition in the vitreous humor Amyloid deposition in the vitreous humor | Vitreous amyloid deposits HPO2016_07_04:Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity. [HPO:probinson] HPO2016_07_04:HP:0007841 C0040422 Tonsillar neoplasms Neoplasm of Tonsil | Neoplasm of the Tonsil | Neoplasm, Tonsil | Neoplasm, Tonsillar | Neoplasms, Tonsil | Neoplasms, Tonsillar | Tonsil Neoplasm | Tonsil Neoplasms | Tonsil Tumor | Tonsillar Neoplasm | Tonsillar Neoplasms | Tonsillar Neoplasms [Disease/Finding] | Tonsillar Tumor | Tonsillar neoplasm | Tonsillar neoplasm NOS | Tumor of Tonsil | Tumor of the Tonsil | Tumor of tonsil | Tumour of tonsil | neoplasm of tonsil | neoplasm of tonsil (diagnosis) | tonsil tumor | tonsil tumors | tonsillar neoplasm | tonsillar neoplasms | tonsils tumors MSH2017_2016_08_12:Tumors or cancer of the PALATINE TONSIL. | NCI2016_02D:A benign or malignant neoplasm that affects the tonsil. MSH2017_2016_08_12:D014067 C0155088 Keratitis interstitial IK - Interstitial keratitis | Interstitial keratitis | Interstitial keratitis (disorder) | Interstitial keratitis unspec. | Interstitial keratitis, NOS | Interstitial keratitis, unspecified | KERATITIS INTERSTITIAL | Keratitis interstitial | Unspecified interstitial keratitis | Unspecified interstitial keratitis (disorder) | interstitial keratitis | interstitial keratitis (diagnosis) | interstitial keratitis (physical finding) | interstitial keratitis was observed | interstitial; keratitis | keratitis interstitial | keratitis; interstitial ICD10CM_2017:H16.30|ICD9CM_2014:370.50|SNOMEDCT_US_2016_09_01:1763009|SNOMEDCT_US_2016_09_01:193784002 C1837352 Childhood onset Childhood onset | Childhood-onset | Onset in childhood HPO2016_07_04:Onset of disease at the age of between 1 and 5 years. [DDD:hfirth] HPO2016_07_04:HP:0011463|OMIM2016_04_17:MTHU001001|OMIM2016_04_17:MTHU001701|OMIM2016_04_17:MTHU013278 C0029850 Oth spontanous pneumothorax Oth spontanous pneumothorax | Other spontan.pneumothorax NOS | Other spontaneous pneumothorax | Other spontaneous pneumothorax (disorder) | Other spontaneous pneumothorax NOS | Other spontaneous pneumothorax NOS (disorder) | [X]Oth spontanous pneumothorax | [X]Other spontaneous pneumothorax | [X]Other spontaneous pneumothorax (disorder) ICD10CM_2017:J93.1|SNOMEDCT_US_2016_09_01:196103008|SNOMEDCT_US_2016_09_01:196105001|SNOMEDCT_US_2016_09_01:196251008|SNOMEDCT_US_2016_09_01:266367007 C1336209 Stage iiia large cell carcinoma of lung Stage IIIA Large Cell Carcinoma of Lung | Stage IIIA Large Cell Carcinoma of the Lung | Stage IIIA Large Cell Lung Carcinoma | Stage IIIA Large Cell Lung Carcinoma AJCC v7 NCI2016_02D:Stage IIIA includes: (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. M0: No distant metastasis. (AJCC 7th ed.) C0854889 Advanced malignant mesothelioma of pleura Advanced Malignant Mesothelioma of Pleura | Advanced Malignant Mesothelioma of the Pleura | Advanced Pleural Malignant Mesothelioma | Malignant Pleural Mesothelioma, Advanced | Pleural mesothelioma malignant advanced NCI2016_02D:Malignant mesothelioma that arises from the pleura and is classified as stage II, stage III, or stage IV. C0279663 Serous cystadenocarcinoma ovary Ovarian Serous Cystadenocarcinoma | Serous cystadenocarcinoma ovary | cystadenocarcinoma of the ovary, serous | cystadenocarcinoma ovarian serous | cystadenocarcinoma ovary serous | ovarian cancer, serous cystadenocarcinoma | ovarian serous cystadenocarcinoma | ovary cancer, serous cystadenocarcinoma | serous cystadenocarcinoma of ovary | serous cystadenocarcinoma of ovary (diagnosis) | serous cystadenocarcinoma of the ovary | serous cystadenocarcinoma ovary NCI2016_02D:A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features. C2931491 Arena syndrome Arena syndrome | Spastic paraplegia with iron deposits in basal ganglia MSH2017_2016_08_12:C537428 C0570559 Tolmetin allergy TOLMETIN ALLERGY | Tolmetin allergy | Tolmetin allergy (disorder) SNOMEDCT_US_2016_09_01:293633005 C0042373 Vascular diseases Angiopathy | Angiopathy, NOS | Blood-vessels--Diseases | DISORDER VASCULAR | Disease, Vascular | Diseases, Vascular | Disorder of blood vessel | Disorder of blood vessel (disorder) | Disorder vascular | VASCULAR (EXTRACARDIAC) DISORDERS | VASCULAR DISEASE | VASCULAR DISEASES | VASCULAR DISORDER | VASCULAR PROBLEM | VASCULAR PROBLEM, NOS | VASCULAR_NOS PROBLEM | Vascular Disease | Vascular Diseases | Vascular Diseases [Disease/Finding] | Vascular Diseases and Syndromes | Vascular Disorder | Vascular Disorders | Vascular disease | Vascular disease (disorder) | Vascular disease or syndrome | Vascular disease, NOS | Vascular disorder | Vascular disorder NOS | Vascular disorder, NOS | Vascular disorders | Vasculopathy | angiopathy | blood vessel disease | blood vessel disorder | blood vessels; disorder | disease (or disorder); blood vessels | disease (or disorder); vascular | disorder; vascular | vascular disease | vascular diseases | vascular disorder | vascular disorders | vascular problem | vascular system disorders | vascular system disorders (diagnosis) | vascular; disorder CSP2006:condition in which there is a deviation from or interruption of the normal structure or function of the blood vessels. | MEDLINEPLUS_20151021:The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block blood flow to the heart or brain. Weakened blood vessels can burst, causing bleeding inside the body.
You are more likely to have vascular disease as you get older. Other factors that make vascular disease more likely include
Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery.
| MSH2017_2016_08_12:Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body. | NCI2016_02D:A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma. MSH2017_2016_08_12:D014652|SNOMEDCT_US_2016_09_01:27550009 C0854832 Angiocentric lymphoma refractory Angiocentric Lymphoma Refractory | Angiocentric lymphoma refractory | Nasal T-cell lymphoma refractory | Polymorphic reticulosis refractory | Refractory Angiocentric Lymphoma | Refractory Nasal Type Extranodal NK/T-Cell Lymphoma | Refractory Nasal/Nasal Type T/NK-Cell Lymphoma NCI2016_02D:Nasal type extranodal NK/T-cell lymphoma that does not respond to treatment. C2720289 Anemia, nonspherocytic hemolytic, due to g6pd deficiency ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency MSH2017_2016_08_12:C567533|OMIM2016_04_17:300908|OMIM2016_04_17:305900 C0476171 Comminuted Comminuted | Comminuted Fracture | Comminuted Fracture type | Comminuted Fractures | Comminuted fracture | Comminuted fracture (morphologic abnormality) | Comminuted fractures | Fracture, Comminuted | Fracture, comminuted | Fracture, comminuted (morphologic abnormality) | Fractures, Comminuted | Fractures, Comminuted [Disease/Finding] | [Q] Comminuted | [Q]Comminuted | comminuted | comminuted fracture | comminuted fractures MSH2017_2016_08_12:A fracture in which the bone is splintered or crushed into a number of pieces. MSH2017_2016_08_12:D018460|SNOMEDCT_US_2016_09_01:13321001|SNOMEDCT_US_2016_09_01:263717006 C1853444 Heterotaxy, visceral, 3, autosomal HETEROTAXY, VISCERAL, 3, AUTOSOMAL | HTX3 | Heterotaxy, Visceral, 3, Autosomal MSH2017_2016_08_12:C565237|OMIM2016_04_17:606325 C0015424 Eyelid neoplasms EYELID TUMOR | Eyelid Neoplasm | Eyelid Neoplasms | Eyelid Neoplasms [Disease/Finding] | Eyelid Tumor | Eyelid tumor | Eyelid tumour | Eyelids--Tumors | Neoplasm of Eyelid | Neoplasm of eyelid | Neoplasm of the Eyelid | Neoplasm, Eyelid | Neoplasms, Eyelid | Tumor of Eyelid | Tumor of eyelid | Tumor of eyelid (disorder) | Tumor of the Eyelid | Tumour of eyelid | eyelid cancer | eyelid neoplasm | eyelid neoplasms | eyelid tumor | eyelid tumors | eyelid tumour | neoplasm eyelid | neoplasm of eyelid | neoplasm of eyelid (diagnosis) | neoplasm of ocular adnexa eyelid | tumor of eyelid | tumor of eyelid (physical finding) CSP2006:new abnormal eyelid tissue that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease. | MSH2017_2016_08_12:Tumors of cancer of the EYELIDS. | NCI2016_02D:A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma. MSH2017_2016_08_12:D005142|SNOMEDCT_US_2016_09_01:278697001 C1456400 Haematocoele Effusion of blood into cavity | Haematocele | Haematocoele | Hematocele | Hematocele (morphologic abnormality) | haematocoele | hematocele SNOMEDCT_US_2016_09_01:103620004|SNOMEDCT_US_2016_09_01:156066005|SNOMEDCT_US_2016_09_01:266680004|SNOMEDCT_US_2016_09_01:66259004 C0405079 Hyperemesis gravidarum with metabolic disturbance - not del Hyperemesis gravidarum with metabolic disturbance - not del | Hyperemesis gravidarum with metabolic disturbance - not delivered | Hyperemesis gravidarum with metabolic disturbance - not delivered (disorder) | Hyperemesis+metab.dist-not del SNOMEDCT_US_2016_09_01:199028004 C1691228 Cystic kidney diseases -- Cystic Kidney Disease | Cystic Kidney Disease | Cystic Kidney Diseases | Cystic Renal Disease | Cystic Renal Diseases | Cystic disease of kidney | Cystic disease of kidney (disorder) | Cystic kidney disease | Cystic kidney disease, unspecified | Cystic renal disease | Disease, Cystic Kidney | Disease, Cystic Renal | Diseases, Cystic Kidney | Diseases, Cystic Renal | Kidney Disease, Cystic | Kidney Diseases, Cystic | Kidney Diseases, Cystic [Disease/Finding] | RENAL CYSTIC DISEASE | Renal Disease, Cystic | Renal Diseases, Cystic | cystic kidney disease | cystic kidney disease (diagnosis) MSH2017_2016_08_12:A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC). | NCI2016_02D:A congenital or acquired kidney disorder characterized by the presence of renal cysts. | NCI2016_NICHD_1602D:A congenital or acquired kidney disorder characterized by the presence of renal cysts. ICD10CM_2017:Q61|ICD10CM_2017:Q61.9|MSH2017_2016_08_12:D052177|OMIM2016_04_17:MTHU021707|SNOMEDCT_US_2016_09_01:156973002|SNOMEDCT_US_2016_09_01:236439005|SNOMEDCT_US_2016_09_01:268332003 C0040262 Tinea versicolor Infection by Malassezia furfur | Infection by Pityrosporum furfur | Malassezia furfur Infection | Malassezia furfur; infection | PV - Pityriasis versicolor | Pityriasis Versicolor | Pityriasis versicolor | Pityriasis versicolor (disorder) | Pityriasis versicolour | TINEA VERSICOLOR | TV - Tinea versicolor | Tinea Versicolor | Tinea Versicolor [Disease/Finding] | Tinea flava | Tinea versicolor | Tinea versicolor due to Malassezia furfur | Tinea versicolor due to Pityrosporum furfur | Tinea versicolour | flava; tinea | infection; Malassezia furfur | pityriasis versicolor | pityriasis versicolour | pityriasis; versicolor | tinea flava | tinea versicolor | tinea versicolor (diagnosis) | tinea versicolour | tinea; flava | tinea; versicolor | versicolor; pityriasis | versicolor; tinea MSH2017_2016_08_12:A common chronic, noninflammatory and usually symptomless disorder, characterized by the occurrence of multiple macular patches of all sizes and shapes, and varying in pigmentation from fawn-colored to brown. It is seen most frequently in hot, humid, tropical regions, and is caused by Pityrosporon orbiculare. (Dorland, 27th ed) | NCI2016_02D:A skin condition characterized by hypopigmented, pink or tan, confetti-like, discrete and confluent scaly macules distributed on the chest, shoulders and upper back. | NCI2016_02D:A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition. | NCI2016_NICHD_1602D:A skin condition characterized by hypopigmented, pink or tan, confetti-like, discrete and confluent scaly macules distributed on the chest, shoulders and upper back. ICD10CM_2017:B36.0|ICD9CM_2014:111.0|MSH2017_2016_08_12:D014010|SNOMEDCT_US_2016_09_01:154395007|SNOMEDCT_US_2016_09_01:56454009 C1856272 Gonadal dysgenesis, xy type, with associated anomalies GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES | Gonadal Dysgenesis, XY Type, with Associated Anomalies MSH2017_2016_08_12:C565536|OMIM2016_04_17:233430 C4024704 Elevated leukocyte alkaline phosphatase Elevated leukocyte alkaline phosphatase HPO2016_07_04:An increased alkaline phosphatase activity measured within leukocytes. [HPO:probinson] HPO2016_07_04:HP:0008318 C1848192 Absent facial hair Absent facial hair HPO2016_07_04:Absence of facial hair. [HPO:probinson] HPO2016_07_04:HP:0002550|OMIM2016_04_17:MTHU008629 C1868916 Gastroesophageal burning Gastroesophageal burning | Gastrooesophageal burning C1836212 Fifth finger symphalangism Fifth finger symphalangism | Fused innermost and middle bones of little finger | Fused innermost and middle bones of pinkie finger | Fused innermost and middle bones of pinky finger | Proximal 5th finger symphalangism | Proximal fifth finger symphalangism | Proximal/middle symphalangism of 5th finger | Symphalangism of the proximal and middle phalanges of the 5th finger HPO2016_07_04:Fusion of the proximal and middle phalanges of the 5th finger. [HPO:curators] HPO2016_07_04:HP:0009177|OMIM2016_04_17:MTHU000849|OMIM2016_04_17:MTHU015493 C1840264 Immune suppression IMMUNE SUPPRESSION | IS | ISCW | ISSCW | STREPTOCOCCAL CELL WALL ANTIGEN, SUPPRESSION OF IMMUNE RESPONSE TO OMIM2016_04_17:146850 C1609528 Restrictive respiratory syndrome Restrictive deficit on pulmonary function testing | Restrictive deficit on pulmonary function tests | Restrictive respiratory disease | Restrictive respiratory insufficiency | Restrictive respiratory insufficiency' | Restrictive respiratory syndrome HPO2016_07_04:FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. [] {comment="NIHR:ldaugherty"} HPO2016_07_04:HP:0002111|OMIM2016_04_17:MTHU003610|OMIM2016_04_17:MTHU041824|OMIM2016_04_17:MTHU042601 C0474585 Feces color: tarry Black faeces | Black faeces symptom | Black feces | Black feces (finding) | Black feces symptom | Black feces symptom (finding) | Black stools | Dark faeces | Dark feces | Dark stool | Dark stools | Dark stools (finding) | Faeces colour: tarry | Feces color: tarry | Feces color: tarry (finding) | Stool black | Stool tarry | Tarry stool | Tarry stools | black color stools | black colored stool | black faeces | black feces | black or tarry stools | black or tarry stools (melena) | black or tarry stools (symptom) | black stool | black stools | black tarry stool | black tarry stools | dark stool | dark stools | tarry stool | tarry stools HPO2016_07_04:HP:0002249|SNOMEDCT_US_2016_09_01:139368009|SNOMEDCT_US_2016_09_01:144837001|SNOMEDCT_US_2016_09_01:162092004|SNOMEDCT_US_2016_09_01:167611003|SNOMEDCT_US_2016_09_01:249627005|SNOMEDCT_US_2016_09_01:267055007|SNOMEDCT_US_2016_09_01:269899009|SNOMEDCT_US_2016_09_01:35064005 C0155517 Hypoactive labyrinth-unilat. Hypoactive labyrinth, unilateral | Hypoactive labyrinth-unilat. | Hypoactive unilateral labyrinthine dysfunction | Hypoactive unilateral labyrinthine dysfunction (disorder) | Unilateral hypoactive labyrinth | Unilateral hypoactive labyrinth (disorder) | Unilateral hypoactive labyrinth (situation) | Unilateral hypoactive labyrinthine dysfunction | Unilateral hypoactive labyrinthine dysfunction (situation) | unilateral hypoactive labyrinth | unilateral hypoactive labyrinth (diagnosis) ICD9CM_2014:386.53|SNOMEDCT_US_2016_09_01:194374008|SNOMEDCT_US_2016_09_01:81585005 C4023328 Abnormality of corneal stroma Abnormality of corneal stroma HPO2016_07_04:An abnormality of the stroma of cornea, also known as the substantia propria of cornea. [DDD:ncarter, HPO:probinson] HPO2016_07_04:HP:0011492 C1838457 Fanconi anemia, complementation group d1 FAD1 | FANCD1 | FANCONI ANEMIA, COMPLEMENTATION GROUP D1 | Fanconi Anemia, Complementation Group D1 | fanconi anemia complementation group d1 | fanconi anemia complementation group d1 (diagnosis) NCI2016_02D:Fanconi anemia caused by mutations of the BRCA2 gene. MSH2017_2016_08_12:C563980|OMIM2016_04_17:600185|OMIM2016_04_17:605724 C0017205 Gaucher disease ANEMIA, SPLENIC, FAMILIAL | Acid beta-Glucosidase Deficiency | Acid beta-Glucosidase Deficiency Disease | Adult Gaucher disease | CEREBROSIDE LIPOIDOSISGaucher disease is a rare, inherited disorder in which you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly.
There are three types:
Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3.
NIH: National Institute of Neurological Disorders and Stroke
| MSH2017_2016_08_12:An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. | NCI2016_02D:An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia. ICD10CM_2017:E75.22|MSH2017_2016_08_12:D005776|SNOMEDCT_US_2016_09_01:180485001|SNOMEDCT_US_2016_09_01:190794006|SNOMEDCT_US_2016_09_01:2859005|SNOMEDCT_US_2016_09_01:62201009 C0413237 Venom-induced angio-edema-urticaria Venom-induced angio-edema-urticaria | Venom-induced angio-oedema-urticaria | Venom-induced angioedema-urticaria | Venom-induced angioedema-urticaria (disorder) SNOMEDCT_US_2016_09_01:241956005 C4015050 Deafness, autosomal recessive 103 DEAFNESS, AUTOSOMAL RECESSIVE 103 | DFNB103 OMIM2016_04_17:616042 C3806415 Numerous congenital melanocytic nevi Numerous congenital melanocytic nevi HPO2016_07_04:HP:0005603|OMIM2016_04_17:MTHU042023 C4073143 Increased level of platelet-activating factor Increased level of PAF | Increased level of platelet-activating factor HPO2016_07_04:HP:0040178 C1833144 Slender, gracile long tubular bones Gracile long bones | Long bones slender | Slender long bone | Slender long bones | Slender, gracile long tubular bones | Thin gracile long bones | Thin long bones | Thin, gracile long bones HPO2016_07_04:Reduced diameter of a long bone. [HPO:probinson] HPO2016_07_04:HP:0003100|OMIM2016_04_17:MTHU005298|OMIM2016_04_17:MTHU005355|OMIM2016_04_17:MTHU006238|OMIM2016_04_17:MTHU010375|OMIM2016_04_17:MTHU012586|OMIM2016_04_17:MTHU014158 C0079352 Congenital torticollis Congenital (sternomastoid) torticollis | Congenital contracture of sternocleidomastoid | Congenital contracture of sternocleidomastoid (muscle) | Congenital contracture of sternocleidomastoid muscle | Congenital muscular torticollis | Congenital sternomastoid torticollis | Congenital sternomastoid torticollis (disorder) | Congenital sternomastoid torticollis (disorder) [Ambiguous] | Congenital sternomastoid torticollis -RETIRED- | Congenital torticollis | Congenital torticollis (disorder) | Congenital wry neck | Congenital wryneck | Contracture of sternocleidomastoid muscle | Torticollis -congenital | Torticollis, congenital | congenital torticollis | congenital torticollis (diagnosis) | congenital; torticollis | contracture; sternocleidomastoid | sternocleidomastoid; contracture | torticollis congenital | torticollis; congenital HPO2016_07_04:A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. [HPO:probinson] HPO2016_07_04:HP:0005988|ICD10CM_2017:Q68.0|MSH2017_2016_08_12:C535425|OMIM2016_04_17:MTHU016978|SNOMEDCT_US_2016_09_01:123272007|SNOMEDCT_US_2016_09_01:156999009|SNOMEDCT_US_2016_09_01:205041007|SNOMEDCT_US_2016_09_01:25699004|SNOMEDCT_US_2016_09_01:268240006|SNOMEDCT_US_2016_09_01:268345004 C0001363 Acute mesenteric ischemia ACUTE MESENTERIC ISCHEMIA | AMI - Acute mesenteric ischaemia | AMI - Acute mesenteric ischemia | Acute GIT vasc.insuffic NOS | Acute Intestinal Ischemia | Acute intestinal ischaemia | Acute intestinal ischaemic syndrome | Acute intestinal ischaemic syndrome, NOS | Acute intestinal ischemia | Acute intestinal ischemic syndrome | Acute intestinal ischemic syndrome, NOS | Acute intestinal vascular insufficiency | Acute intestinal vascular insufficiency NOS | Acute intestinal vascular insufficiency NOS (disorder) | Acute mesenteric ischaemia | Acute mesenteric ischemia | Acute vascular insufficiency of intestine | Acute vascular insufficiency of intestine (disorder) | Acute vascular insufficiency of intestine, NOS | MESENTERIC VASCULAR INSUFFICIENCY, ACUTE | acute intestinal ischaemia | acute ischemia mesenteric | acute mesenteric ischaemia | acute mesenteric ischemia | acute vascular insufficiency of intestine | acute vascular insufficiency of intestine (diagnosis) | ischemia; bowel, acute ICD9CM_2014:557.0|SNOMEDCT_US_2016_09_01:196998009|SNOMEDCT_US_2016_09_01:197004007|SNOMEDCT_US_2016_09_01:91489000 C1852989 Vitreoretinopathy with phalangeal epiphyseal dysplasia VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA | Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia MSH2017_2016_08_12:C565179|OMIM2016_04_17:120140 C3494901 Benign myoclonic epilepsy in infancy, intractable Benign myoclonic epilepsy in infancy, intractable | Benign myoclonic epilepsy in infancy, refractory | Benign myoclonic epilepsy in infancy, refractory (disorder) SNOMEDCT_US_2016_09_01:431091000124108 C0936248 Chondroma CHONDROMA, BENIGN | Chondroma | Chondroma (morphologic abnormality) | Chondroma NOS | Chondroma [Disease/Finding] | Chondroma, NOS | Chondromas | [M]Chondroma NOS | [M]Chondroma NOS (morphologic abnormality) | chondroma | chondromas MSH2017_2016_08_12:A benign neoplasm derived from mesodermal cells that form cartilage. It may remain within the substance of a cartilage or bone (true chondroma or enchondroma) or may develop on the surface of a cartilage (ecchondroma or ecchondrosis). (Dorland, 27th ed; Stedman, 25th ed) | NCI2016_02D:A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes. | NCI2016_CDISC_1602D:A benign, well circumscribed neoplasm arising from the hyaline cartilage in soft tissue or bone. It is characterized by the presence of chondrocytes. MSH2017_2016_08_12:D002812|SNOMEDCT_US_2016_09_01:154611005|SNOMEDCT_US_2016_09_01:187899007|SNOMEDCT_US_2016_09_01:188980001|SNOMEDCT_US_2016_09_01:189885004|SNOMEDCT_US_2016_09_01:269638002|SNOMEDCT_US_2016_09_01:31186001 C0015959 Fetomaternal bleeding FETOMATERNAL BLEEDING | Fetal blood loss from fetal hemorrhage into mother's circulation | Fetal haemorrhage into mother's circulation | Fetal hemorrhage into mother's circulation | Fetal hemorrhage into mother's circulation (disorder) | Fetal maternal haemorrhage | Fetal maternal haemorrhage (disorder) | Fetal maternal hemorrhage | Fetal maternal hemorrhage (disorder) | Fetal-Maternal Bleed | Fetal-Maternal Hemorrhage | Fetal-maternal bleeding | Fetal-maternal h'ge unspecif. | Fetal-maternal haemorrhage | Fetal-maternal haemorrhage NOS | Fetal-maternal haemorrhage unspecified | Fetal-maternal hemorrhage | Fetal-maternal hemorrhage (disorder) | Fetal-maternal hemorrhage NOS | Fetal-maternal hemorrhage NOS (disorder) | Fetal-maternal hemorrhage unspecified | Fetal-maternal hemorrhage unspecified (disorder) | Fetal-maternal hemorrhage, unspecified as to episode of care in pregnancy | Fetal-maternal hemorrhage, unspecified as to episode of care or not applicable | Feto - maternal transfusion | Fetomaternal Hemorrhage | Fetomaternal Hemorrhages | Fetomaternal Transfusion | Fetomaternal Transfusion [Disease/Finding] | Fetomaternal Transfusions | Fetomaternal haemorrhage | Fetomaternal hemorrhage | Fetomaternal transfusion | Foetal haemorrhage into mother's circulation | Foetal hemorrhage into mother's circulation | Foetal maternal haemorrhage | Foetal-maternal bleeding | Foetal-maternal haemorrhage | Foetal-maternal hemorrhage | Foetomaternal haemorrhage | Hemorrhage, Fetomaternal | Hemorrhages, Fetomaternal | Leakage of fetal blood into maternal circulation | Leakage of foetal blood into maternal circulation | Transfusion, Fetomaternal | Transfusions, Fetomaternal | Transplacental fetomaternal haemorrhage | Transplacental fetomaternal hemorrhage | fetal maternal hemorrhage | fetal-maternal hemorrhage | fetal-maternal hemorrhage (diagnosis) | fetal; hemorrhage, into, maternal circulation | feto maternal transfusion | fetomaternal bleeding | fetomaternal hemorrhage | fetomaternal transfusion | fetomaternal; transfusion | hemorrhage; fetal-maternal | maternofetal; transfusion | transfusion; fetomaternal MSH2017_2016_08_12:Transplacental passage of fetal blood into the circulation of the maternal organism. (Dorland, 27th ed) | NCI2016_02D:Loss of fetal blood into the maternal circulation.(NICHD) | NCI2016_NICHD_1602D:Loss of fetal blood into the maternal circulation. ICD9CM_2014:656.00|MSH2017_2016_08_12:D005331|SNOMEDCT_US_2016_09_01:199576009|SNOMEDCT_US_2016_09_01:199579002|SNOMEDCT_US_2016_09_01:206392000|SNOMEDCT_US_2016_09_01:24141009|SNOMEDCT_US_2016_09_01:71028008 C0237849 Peeling of skin DESQUAMATION | Desquamation | Desquamation (function) | Desquamation of skin | Desquamation, NOS | Desquamation, function | Desquamation, function (observable entity) | Desquamative state | Dropping of scales | EXFOLIATION | Exfoliating | Exfoliation | Exfoliation NOS | Exfoliation of skin | Exfoliation, NOS | Flaking of skin | Flaking skin | Peeling of skin | Peeling of skin (finding) | Peeling;skin | SKIN DESQUAMATION | SKIN EXFOLIATION | SKIN PEELING | SKIN SCALING | Scaling | Scaling (observable entity) | Scaling -RETIRED- | Scaling of skin | Scaling of skin, NOS | Scaling of the skin | Scaling skin | Shedding of scales | Skin desquamation | Skin desquamation NOS | Skin exfoliation | Skin flaking | Skin peeling | Skin scaling | desquamation | desquamation (physical finding) | desquamation was seen | desquamation; skin | exfoliate | exfoliated | exfoliating | exfoliation | exfoliation (physical finding) | exfoliation was seen | flaking skin | peel | peeling | peeling of skin | peeling skin | peeling skins | peels | scales | scales were seen | scaling | scaling of skin | scaling of skin (symptom) | scaling skin | scaly skin | skin appearance peeling | skin appearance peeling (physical finding) | skin desquamation | skin exfoliation | skin flaking | skin peel | skin peeling | skin peeling (symptom) | skin scales | skin scales (physical finding) | skin scaling HPO2016_07_04:Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. [] | NCI2016_02D:Shedding of the outer layer of skin or mucosal tissue. | NCI2016_CDISC_1602D:Shedding or sloughing of cells from an epithelial surface, including skin, mucosa and testis. | NCI2016_NICHD_1602D:Mild, superficial peeling or shedding of skin. HPO2016_07_04:HP:0040189|ICD10CM_2017:R23.4|OMIM2016_04_17:MTHU032967|OMIM2016_04_17:MTHU044426|OMIM2016_04_17:MTHU047373|SNOMEDCT_US_2016_09_01:123120008|SNOMEDCT_US_2016_09_01:14411002|SNOMEDCT_US_2016_09_01:271767006 C0276584 Aids with malaise AIDS with malaise | AIDS with malaise (disorder) SNOMEDCT_US_2016_09_01:89565008 C1837461 Scoliosis, isolated, susceptibility to, 3 IS3 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 OMIM2016_04_17:608765 C0020557 Hypertriglyceridemia Elevated triglycerides | HYPERTRIGLYCERIDAEMIA | HYPERTRIGLYCERIDEMIA | Hyperglyceridaemia | Hyperglyceridemia | Hypertriglyceridaemia | Hypertriglyceridemia | Hypertriglyceridemia (disorder) | Hypertriglyceridemia [Disease/Finding] | Hypertriglyceridemias | Raised TG | Raised triglycerides | Triglyceride increased | Triglycerides high | elevated tg | elevated triglycerides | high triglycerides | hyperglyceridaemia | hyperglyceridemia | hypertriglyceridaemia | hypertriglyceridemia | increased triglycerides | raised triglycerides CSP2006:condition of elevated triglyceride concentration in the blood; an inherited form occurs in familial hyperlipoproteinemia IIb and hyperlipoproteinemia type IV; linked to higher risk of heart disease and arteriosclerosis. | MSH2017_2016_08_12:A condition of elevated levels of TRIGLYCERIDES in the blood. MSH2017_2016_08_12:D015228|SNOMEDCT_US_2016_09_01:302870006 C3276276 Mitochondrial complex v (atp synthase) deficiency, nuclear type 1 MC5DN1 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 OMIM2016_04_17:604273|OMIM2016_04_17:608918 C2717979 Tooth wear Dental Wear | Dental Wears | Tooth Wear | Tooth Wear [Disease/Finding] | Tooth Wears | Tooth wear | Tooth wear, NOS | Wear of teeth | Wear, Dental | Wear, Tooth | Wears, Dental | Wears, Tooth | tooth wear | tooth wear (physical finding) | wear; teeth MSH2017_2016_08_12:Loss of the tooth substance by chemical or mechanical processes MSH2017_2016_08_12:D057085|SNOMEDCT_US_2016_09_01:19702000|SNOMEDCT_US_2016_09_01:53963006 C1859773 Microphthalmia, syndromic 3 AEG - anophthalmia-esophageal-genital syndrome | AEG SYNDROME | AEG Syndrome | ANOPHTHALMIA, CLINICAL, WITH ASSOCIATED ANOMALIES | ANOPHTHALMIA-ESOPHAGEAL-GENITAL SYNDROME | Anophthalmia, Clinical, With Associated Anomalies | Anophthalmia-Esophageal-Genital Syndrome | Anophthalmia-esophageal-genital syndrome | MCOPS3 | MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME | MICROPHTHALMIA, SYNDROMIC 3 | Microphthalmia And Esophageal Atresia Syndrome | Microphthalmia, Syndromic 3 | SOX2 anophthalmia syndrome | SOX2 anophthalmia syndrome (disorder) | SOX2-related eye disorder | Sox2 Anophthalmia Syndrome | Sox2-Related Eye Disorders | Syndromic Microphthalmia 3 | Syndromic microphthalmia 3 MSH2017_2016_08_12:C565948|OMIM2016_04_17:184429|OMIM2016_04_17:206900|SNOMEDCT_US_2016_09_01:698851003 C0027609 Neonatal abstinence syndrome Abstinence Syndrome, Neonatal | Abstinence Syndromes, Neonatal | Drug withdrawal syndrome in newborn | Drug withdrawal syndrome in newborn (disorder) | Drug withdrawal syndrome neonatal | NAS | Neonatal Abstinence Syndrome | Neonatal Abstinence Syndrome (disorder) | Neonatal Abstinence Syndrome [Disease/Finding] | Neonatal Abstinence Syndromes | Neonatal Narcotic Withdrawal Syndrome | Neonatal Substance Withdrawal | Neonatal Substance Withdrawals | Neonatal Withdrawal Syndrome | Neonatal Withdrawal Syndromes | Neonatal abstinence syndrome | Neonatal drug withdrawal syndrome | Neonatal withdrawal syndrome | Newborn drug withdrawal syndrome | Substance Withdrawal, Neonatal | Substance Withdrawals, Neonatal | Syndrome, Neonatal Abstinence | Syndrome, Neonatal Withdrawal | Syndromes, Neonatal Abstinence | Syndromes, Neonatal Withdrawal | WITHDRAWAL SYNDROME NEONATAL | Withdrawal Syndrome, Neonatal | Withdrawal Syndromes, Neonatal | Withdrawal syndrome neonatal | Withdrawal, Neonatal Substance | abstinence neonatal syndrome | neonatal AOD abstinence syndrome | neonatal Alcohol or Other Drugs abstinence syndrome | neonatal abstinence syndrome | neonatal drug withdrawal syndrome | neonatal drug withdrawal syndrome (diagnosis) | neonatal withdrawal syndrome | syndrome; withdrawal, drug, infant of dependent mother | withdrawal; syndrome, drug, infant of dependent mother MSH2017_2016_08_12:Fetal and neonatal addiction and withdrawal as a result of the mother's dependence on drugs during pregnancy. Withdrawal or abstinence symptoms develop shortly after birth. Symptoms exhibited are loud, high-pitched crying, sweating, yawning and gastrointestinal disturbances. | NCI2016_02D:A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors.(NICHD) | NCI2016_NICHD_1602D:A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. ICD10CM_2017:P96.1|ICD9CM_2014:779.5|MSH2017_2016_08_12:D009357|SNOMEDCT_US_2016_09_01:414819007|SNOMEDCT_US_2016_09_01:61628006 C1969404 Prominent frontal sinuses Large frontal sinus | Prominent frontal sinuses HPO2016_07_04:HP:0005478|OMIM2016_04_17:MTHU021019 C0878659 Short stature, disproportionate Disproportionate short stature | Short stature, disproportionate HPO2016_07_04:A kind of short stature in which different regions of the body are shortened to differing extents. [HPO:probinson] HPO2016_07_04:HP:0003498|OMIM2016_04_17:MTHU000606 C2678397 Absent ulnae Absent ossification/absent ulna | Absent ulna | Absent ulnae | Aplasia of the ulna HPO2016_07_04:Missing ulna bone associated with congenital failure of development. [HPO:probinson] HPO2016_07_04:HP:0003982|OMIM2016_04_17:MTHU023002 C4225194 Iga nephropathy, susceptibility to, 3 IGAN3 | IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3 OMIM2016_04_17:616818 C0272362 Acquired von willebrand's disease Acquired Von Willebrand's disease | Acquired von Willebrand disease | Acquired von Willebrand syndrome | Acquired von Willebrand syndrome (disorder) | Acquired von Willebrand's disease | Acquired von Willebrand's disease (disorder) | vWD - Acquired von Willebrand's disease SNOMEDCT_US_2016_09_01:234451005|SNOMEDCT_US_2016_09_01:60078000 C0010246 Coxsackievirus infections COXSACKIE VIRUS | Coxsackie Virus Infection | Coxsackie Virus Infections | Coxsackie viral diseases NOS | Coxsackie viral diseases NOS (disorder) | Coxsackie viral infection | Coxsackie viral infections | Coxsackie virus | Coxsackie virus disease | Coxsackie virus disease (disorder) | Coxsackievirus Infection | Coxsackievirus Infections | Coxsackievirus Infections [Disease/Finding] | Coxsackievirus infection NOS | Coxsackievirus infections | Infections, Coxsackie Virus | Infections, Coxsackievirus | coxsackie disease | coxsackie viral disease | coxsackie viral disease (diagnosis) | coxsackie viral infection | coxsackie viral infections | coxsackie virus | coxsackie virus infection | coxsackie virus infections | coxsackievirus | coxsackievirus infection | coxsackievirus infections | disease coxsackie | disease coxsackie virus | infection; viral, coxsackie(virus) | infection; viral, coxsackie(virus), unspecified nature or site | infections coxsackievirus | viral; infection, coxsackie(virus) | viral; infection, coxsackie(virus), unspecified nature or site | virus coxsackie MSH2017_2016_08_12:A heterogeneous group of infections produced by coxsackieviruses, including HERPANGINA, aseptic meningitis (MENINGITIS, ASEPTIC), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (PLEURODYNIA, EPIDEMIC) and a serious MYOCARDITIS. ICD10CM_2017:B34.1|MSH2017_2016_08_12:D003384|SNOMEDCT_US_2016_09_01:154355005|SNOMEDCT_US_2016_09_01:186658007|SNOMEDCT_US_2016_09_01:186666003 C3150418 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2 LGMD2N | MDDGC2 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2N | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED OMIM2016_04_17:607439|OMIM2016_04_17:613158 C1556061 Electric injuries Electric Injuries | Electric Injuries [Disease/Finding] | Electric Injury | Electric injury | Electrical Injuries | Electrical injuries | Electrical injury | Injuries, Electric | Injury caused by electrical exposure | Injury caused by electrical exposure (disorder) | Injury due to electrical exposure | Injury due to electrical exposure (disorder) | Injury, Electric | electric injuries | electric injury | electrical injuries | electrical injury MSH2017_2016_08_12:Injuries caused by electric currents. The concept excludes electric burns (BURNS, ELECTRIC), but includes accidental electrocution and electric shock. MSH2017_2016_08_12:D004556|SNOMEDCT_US_2016_09_01:371708003 C4025088 Broad metacarpal epiphyses Broad end part of long bone of hand | Broad metacarpal epiphyses HPO2016_07_04:Increased side-to-side width of the metacarpal epiphyses. [HPO:probinson] HPO2016_07_04:HP:0006146 C3809278 Epileptic encephalopathy, childhood-onset EEOC | EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET OMIM2016_04_17:602119|OMIM2016_04_17:615369 C1852429 Cataract, variable zonular pulverulent Cataract, Variable Zonular Pulverulent MSH2017_2016_08_12:C565132 C3810170 Deafness, autosomal dominant 56 DEAFNESS, AUTOSOMAL DOMINANT 56 | DFNA56 OMIM2016_04_17:187380|OMIM2016_04_17:615629 C2675188 Kallmann syndrome 6 Kallmann Syndrome 6 MSH2017_2016_08_12:C567199 C4225319 Mental retardation, autosomal recessive 50 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50 | MRT50 OMIM2016_04_17:616460 C4021521 Depletion of mitochondrial dna in muscle tissue Depletion of mitochondrial DNA in muscle tissue | Depletion of mitochondrial dna in skeletal muscle tissue HPO2016_07_04:HP:0009141 C0007129 Merkel cell carcinoma Anaplastic carcinoma of the skin | Apudoma of skin | Apudoma of skin (diagnosis) | Apudoma of skin (disorder) | Cancer, Merkel Cell | Carcinoma, Merkel Cell | Carcinoma, Merkel Cell [Disease/Finding] | Cell Cancer, Merkel | Cutaneous APUDoma | Cutaneous Apudoma | Cutaneous Neuroendocrine Carcinoma | MCC | Merkel Cell Cancer | Merkel Cell Carcinoma | Merkel Cell Tumor | Merkel cell cancer | Merkel cell cancer of the skin | Merkel cell carcinoma | Merkel cell carcinoma (disorder) | Merkel cell carcinoma (morphologic abnormality) | Merkel cell carcinoma NOS | Merkel cell skin cancer | Merkel cell tumor | Merkel cell tumour | Merkle Tumors | Neuroendocrine Carcinoma of Skin | Neuroendocrine Carcinoma of the Skin | Neuroendocrine Skin Carcinoma | Neuroendocrine carcinoma of the skin | Neuroendocrine tumor of the skin | Primary cutaneous neuroendocrine carcinoma | Primary small cell carcinoma of the skin | Primary undifferentiated carcinoma of the skin | Skin cancer, neuroendocrine carcinoma | Trabecular Skin Carcinoma | Trabecular cell carcinoma of skin | Tumor, Merkel Cell | Tumors, Merkle | [M] Merkel cell carcinoma | [M]Merkel cell carcinoma | adult neuroblastoma of the skin | carcinoma cell merkels | carcinoma neuroendocrine skin | carcinoma, Merkel cell | cell merkel tumors | cutaneous APUDoma | cutaneous neuroendocrine tumor | endocrine carcinoma of the skin | mcc | merkel cell cancer | merkel cell carcinoma | merkel cell tumor | merkel cell tumour | neuroendocrine carcinoma of the skin | neuroendocrine tumor apudoma of skin | primary small cell carcinoma of the skin | small cell neuroepithelial tumor of the skin | trabecular cancer | trabecular carcinoma of the skin HPO2016_07_04:A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features. [HPO:probinson, pmid:16565213] | MSH2017_2016_08_12:A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245) | NCI2016_02D:A rare malignant cutaneous tumor seen in elderly patients. Its usual location is on the head, neck and extremities. The tumor is composed of small round cells with scanty cytoplasm arranged in a trabecular pattern, or in ill-defined nodules or in a diffuse pattern. The tumor cells contain cytoplasmic membrane-bound dense core granules resembling neurosecretory granules. | NCI2016_NCI-GLOSS_1602D:A rare type of cancer that forms on or just beneath the skin, usually in parts of the body that have been exposed to the sun. It is most common in older people and in people with weakened immune systems. HPO2016_07_04:HP:0030447|ICD10CM_2017:C4A|ICD10CM_2017:C4A.9|MSH2017_2016_08_12:D015266|SNOMEDCT_US_2016_09_01:253001006|SNOMEDCT_US_2016_09_01:254729005|SNOMEDCT_US_2016_09_01:5052009 C0341419 Irritable bowel syndrome variant of childhood with diarrhea Irritable bowel syndrome variant of childhood with diarrhea | Irritable bowel syndrome variant of childhood with diarrhea (disorder) | Irritable bowel syndrome variant of childhood with diarrhoea SNOMEDCT_US_2016_09_01:235839006 C3151083 Neisserial infections, recurrent Episodes of neisserial infection | Neisserial infections, recurrent | Recurrent Neisserial infections | Recurrent neisseria infections | Recurrent neisserial infections | recurrent Neisseria infections | recurrent Neisseria infections (history) HPO2016_07_04:Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis). [HPO:curators] HPO2016_07_04:HP:0005430|OMIM2016_04_17:MTHU030418|OMIM2016_04_17:MTHU034614 C3179194 Galns deficiency Deficiencies, GALNS | Deficiency, GALNS | GALNS Deficiencies | GALNS Deficiency MSH2017_2016_08_12:D009085 C0280398 Laryngeal verrucous carcinoma, stage iii Laryngeal verrucous carcinoma stage III | Stage III Laryngeal Verrucous Carcinoma | Stage III Laryngeal Verrucous Carcinoma AJCC v6 | Stage III Laryngeal Verrucous Carcinoma AJCC v7 | Stage III Larynx Verrucous Carcinoma | Stage III Verrucous Carcinoma of Larynx | Stage III Verrucous Carcinoma of the Larynx | laryngeal verrucous carcinoma, stage III | larynx verrucous carcinoma, stage III | stage III verrucous carcinoma of the larynx | verrucous carcinoma of the larynx, stage III NCI2016_02D:Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T1: Supraglottis: Tumor limited to one subsite of supraglottis with normal vocal cord mobility. Glottis: Tumor limited to the vocal cord(s) (may involve anterior or posterior commissure) with normal mobility. Subglottis: Tumor limited to the subglottis. T2: Supraglottis: Tumor invades mucosa of more than one adjacent subsite of supraglottis or glottis or region outside the supraglottis (e.g., mucosa of base of tongue, vallecula, medial wall of pyriform sinus) without fixation of the larynx. Glottis: Tumor extends to supraglottis and/or subglottis, and/or with impaired vocal cord mobility. Subglottis: Tumor extends to vocal cord(s) with normal or impaired mobility. T3: Supraglottis: Tumor limited to larynx with vocal cord fixation and/or invades any of the following: postcricoid area, pre-epiglottic tissues, paraglottic space, and/or inner cortex of thyroid cartilage. Glottis: Tumor limited to the larynx with vocal cord fixation and/or invasion of paraglottic space, and/or inner cortex of the thyroid cartilage. Subglottis: Tumor limited to larynx with vocal cord fixation. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3cm or less in greatest dimension. M0: No distant metastasis. (AJCC 6th and 7th eds.) C0405469 Granulomatous mastitis Granulomatis mastitis | Granulomatis mastitis (disorder) | Granulomatous Mastitis | Granulomatous Mastitis [Disease/Finding] | Granulomatous mastitis | Granulomatous mastitis (disorder) | Mastitis, Granulomatous MSH2017_2016_08_12:A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with BREAST FEEDING and the use of ORAL CONTRACEPTIVES. MSH2017_2016_08_12:D058890|SNOMEDCT_US_2016_09_01:237444008 C1864873 Testicular microlithiasis TESTICULAR MICROLITHIASIS | Testicular Microlithiasis | Testicular microlithiasis | Testicular microlithiasis (finding) | microlithiasis of testicle | microlithiasis of testicle (diagnosis) | testicle microlithiasis HPO2016_07_04:The deposition of calcium phosphate microliths within the seminiferous tubules. [HPO:probinson] HPO2016_07_04:HP:0012215|MSH2017_2016_08_12:C566478|OMIM2016_04_17:610441|OMIM2016_04_17:MTHU048893|SNOMEDCT_US_2016_09_01:117261000119108 C0175694 Smith-lemli-opitz syndrome 7-Dehydrocholesterol reductase deficiency | Hyperotosis Corticalis Generalisata Familiaris | LETHAL ACRODYSGENITAL SYNDROME | POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG | Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung | RSH SLO Syndrome | RSH SYNDROME | RSH Syndrome | RSH Syndromes | RSH syndrome | RSH-SLO Syndrome | RSH-SLO Syndromes | RSH/Smith-Lemli-Opitz (RSH/SLO) syndrome | RSH/Smith-Lemli-Opitz syndrome | RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME | SLO SYNDROME | SLO Syndrome | SLO Syndromes | SLOS | SMITH-LEMLI-OPITZ SYNDROME | Smith Lemli Opitz Syndrome | Smith Lemli Opitz syndrome | Smith syndrome | Smith-Lemli-Opitz | Smith-Lemli-Opitz (SLO) syndrome I (SLOS I) | Smith-Lemli-Opitz Syndrome | Smith-Lemli-Opitz Syndrome [Disease/Finding] | Smith-Lemli-Opitz syndrome | Smith-Lemli-Opitz syndrome (diagnosis) | Smith-Lemli-Opitz syndrome (disorder) | Smith-Lemli-Opitz syndrome I | Smith-Opitz-Inborn syndrome | Syndrome, RSH | Syndrome, SLO | Syndromes, RSH | Syndromes, SLO | rsh syndrome | smith lemli opitz syndrome | smith syndrome | smith syndromes | smith-lemli-opitz syndrome | syndrome smith CSP2006:autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities; the biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol. | JABL99:A syndrome with variable characteristics marked mainly by short stature, mental deficiency, microcephaly, postaxial polydactyly, cleft palate, cardiovascular defects, genital malformations, and other abnormalities associated with defective cholesterol metabolism. The fundamental biochemical abnormality appears to be a primary or secondary deficiency of 7-DHC-reductase (3-beta-hydroxysteroid-delta7-reductase causing deficient synthesis of cholesterol. Two types are recognized: Type I comprising the milder manifestations. Type II representing severe forms, consisting of male pseudohermaphroditism, polydactyly with frequent early lethality. The designation RSH represents initials of the surnames of the first three patients in whom the syndrome was first observed. | MSH2017_2016_08_12:An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY. | NCI2016_02D:A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present. ICD10CM_2017:E78.72|MSH2017_2016_08_12:D019082|OMIM2016_04_17:270400|OMIM2016_04_17:602858|SNOMEDCT_US_2016_09_01:43929004 C0795855 Chromosome 15 ring syndrome (15)r syndrome | chromosome 15 ring syndrome | r(15) syndrome | ring chromosome 15 syndrome JABL99:A condition in which both ends of chromosome 15 have been lost (deletion) and the two broken ends have reunited to form a ring-shaped figure. Common clinical findings include growth retardation, triangular expressionless face, hypertelorism, slightly receding mandible, malformed ears, short neck, brachymesophalangy, hypogonadism, small hands and feet, mental retardation, and other disorders. C0003564 Aphonia APHONIA | Absence of Voice | Absence of voice | Aphonia | Aphonia (disorder) | Aphonia [Disease/Finding] | Does not phonate | Does not produce voice | Does not produce voice (finding) | Does not vocalise | Does not vocalize | Loss (of);voice | Loss of voice | Loss of voice (finding) | Voice Absence | Voice Absences | [D]Aphonia | [D]Aphonia (context-dependent category) | [D]Aphonia (situation) | [D]Loss of voice | [D]Loss of voice (context-dependent category) | [D]Loss of voice (situation) | absence of voice | aphonia | aphonia (physical finding) | aphonia was observed | loss of voice | loss voice | loss; voice | speech phonation aphonia | voice loss | voice; loss MSH2017_2016_08_12:Complete loss of phonation due to organic disease of the larynx or to nonorganic (i.e., psychogenic) causes. | NCI2016_02D:A term referring to the inability to speak. It may result from injuries to the vocal cords or may be functional (psychogenic). | NCI2016_CTCAE_1602D:A disorder characterized by the inability to speak. It may result from injuries to the vocal cords or may be functional (psychogenic). | NCI2016_NICHD_1602D:The inability to produce speech sounds. HPO2016_07_04:HP:0001686|ICD10CM_2017:R49.1|ICD9CM_2014:784.41|MSH2017_2016_08_12:D001044|OMIM2016_04_17:MTHU037052|SNOMEDCT_US_2016_09_01:158307003|SNOMEDCT_US_2016_09_01:158308008|SNOMEDCT_US_2016_09_01:206970009|SNOMEDCT_US_2016_09_01:206971008|SNOMEDCT_US_2016_09_01:286329004|SNOMEDCT_US_2016_09_01:286359009|SNOMEDCT_US_2016_09_01:299702006|SNOMEDCT_US_2016_09_01:441913003|SNOMEDCT_US_2016_09_01:44564008 C1865818 Dystonia 7, torsion (disorder) DYSTONIA 7, TORSION | DYSTONIA 7, TORSION (disorder) | DYT7 | Dystonia 7, Torsion | Primary adult-onset torsion dystonia | TORSION DYSTONIA, FOCAL ADULT-ONSET | Torsion dystonia 7 | Torsion dystonia, focal adult-onset MSH2017_2016_08_12:C566572|OMIM2016_04_17:602124 C0267438 Dietetic diarrhea Dietetic diarrhea | Dietetic diarrhea (disorder) | Dietetic diarrhea [dup] (disorder) | Dietetic diarrhoea SNOMEDCT_US_2016_09_01:197027004|SNOMEDCT_US_2016_09_01:236072002|SNOMEDCT_US_2016_09_01:83134002 C0079102 Cerebral thrombosis CEREBRAL THROMBOSIS | CT - Cerebral thrombosis | Cerebral Thromboses | Cerebral Thrombosis | Cerebral thrombosis | Cerebral thrombosis (disorder) | Cerebral thrombosis (vessel unspecified) | Cerebral thrombosis NOS | THROMBOSIS CEREBRAL | THROMBOSIS, CEREBRAL | Thromboses, Cerebral | Thrombosis cerebral | Thrombosis, Cerebral | cerebral thrombosis | cerebral; thrombosis | thrombosis cerebral | thrombosis; cerebral ICD9CM_2014:434.0|MSH2017_2016_08_12:D020767|OMIM2016_04_17:MTHU037168|SNOMEDCT_US_2016_09_01:155401002 C1842577 Joubert syndrome 2 CEREBELLOOCULORENAL SYNDROME 2 | CORS2 | Cerebellooculorenal syndrome 2 | JBTS2 | JOUBERT SYNDROME 2 | Joubert syndrome 2 MSH2017_2016_08_12:C536294|OMIM2016_04_17:608091|OMIM2016_04_17:613277 C1304204 Urticarial vasculitis with monoclonal igm component, schnitzler Urticarial vasculitis with monoclonal IgM component, Schnitzler | Urticarial vasculitis with monoclonal IgM component, Schnitzler (disorder) | Urticarial vasculitis with monoclonal immunoglobulin M component, Schnitzler | Urticarial vasculitis with monoclonal immunoglobulin M component, Schnitzler (disorder) SNOMEDCT_US_2016_09_01:402416000 C0302360 Disease caused by shigella boydii Boyd; dysentery | Disease caused by Shigella boydii | Infection by group C Shigella | Infection caused by Group C Shigella | Infection caused by Group C Shigella (disorder) | Infection due to Group C Shigella | Infection due to Group C Shigella (disorder) | Shigella boydii | Shigella boydii (group C) | Shigella boydii (group C) (disorder) | Shigella boydii shigellosis | Shigella; infection, boydii | Shigella; infection, group, C | Shigellosis caused by Shigella boydii | Shigellosis due to Shigella boydii | bacillary; dysentery, Boyd | bacillary; dysentery, Shigella, boydii | bacillary; dysentery, Shigella, group C | dysentery; Boyd | dysentery; bacillary, Boyd | dysentery; bacillary, Shigella, boydii | dysentery; bacillary, Shigella, group C | infection; Shigella, boydii | infection; Shigella, group, C | shigellosis due to Shigella boydii | shigellosis due to Shigella boydii (diagnosis) ICD10CM_2017:A03.2|ICD9CM_2014:004.2|SNOMEDCT_US_2016_09_01:186105003|SNOMEDCT_US_2016_09_01:55760004 C1854928 Protuberant abdomen Abdominal protuberance | Protuberant abdomen HPO2016_07_04:A thrusting or bulging out of the abdomen. [HPO:probinson] HPO2016_07_04:HP:0001538|OMIM2016_04_17:MTHU009452|OMIM2016_04_17:MTHU011313 C0751316 Acquired meningomyelocele Acquired Meningomyelocele | Acquired Meningomyeloceles | Acquired Myelomeningocele | Acquired Myelomeningoceles | Meningomyelocele, Acquired | Meningomyeloceles, Acquired | Myelomeningocele, Acquired | Myelomeningoceles, Acquired MSH2017_2016_08_12:D008591 C1843428 Diffuse reticular or finely nodular infiltrations Diffuse reticular or finely nodular infiltrations HPO2016_07_04:HP:0002207|OMIM2016_04_17:MTHU003058 C0013299 Duodenogastric reflux DGR - Duodenogastric reflux | Duodenal Reflux | Duodenal Refluxs | Duodeno Gastric Reflux | Duodeno-Gastric Reflux | Duodenogastric Reflux | Duodenogastric Reflux [Disease/Finding] | Duodenogastric reflux | Duodenogastric reflux (finding) | Reflux, Duodenal | Reflux, Duodeno-Gastric | Reflux, Duodenogastric | duodenal reflux | duodenogastric reflux MSH2017_2016_08_12:Retrograde flow of duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the STOMACH. MSH2017_2016_08_12:D004383|SNOMEDCT_US_2016_09_01:9733003 C1260409 Myasthenia gravis without acute exacerbation Myasthenia gravis without (acute) exacerbation | myasthenia gravis without acute exacerbation | myasthenia gravis without acute exacerbation (diagnosis) ICD10CM_2017:G70.00|ICD9CM_2014:358.00 C1332183 Adult astrocytic tumors Adult Astrocytic Neoplasm | Adult Astrocytic Tumor | Adult Astrocytic Tumour | Brain tumor, adult: Astrocytic tumors | adult astrocytic tumors NCI2016_02D:An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma. C1837595 Prostate cancer, hereditary, 3 HPC3 | PROSTATE CANCER, HEREDITARY, 3 | Prostate Cancer, Hereditary, 3 MSH2017_2016_08_12:C563883|OMIM2016_04_17:608656 C4020864 Abnormality of the haematopoietic system Abnormality of the haematopoietic system HPO2016_07_04:HP:0001871 C1704299 Hypobetalipoproteinemia, familial, apolipoprotein b Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type | Apolipoprotein B Deficiencies | Apolipoprotein B Deficiency | Apolipoprotein B Deficiency Disease | Apolipoprotein B deficiency | Hypobetalipoproteinemia, Familial, Apo B | Hypobetalipoproteinemia, Familial, Apolipoprotein B | Hypobetalipoproteinemia, Familial, Apolipoprotein B [Disease/Finding] MSH2017_2016_08_12:An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption. MSH2017_2016_08_12:D052476|SNOMEDCT_US_2016_09_01:190787008|SNOMEDCT_US_2016_09_01:83123000 C4280669 Velopharyngeal dysfunction Velopharyngeal dysfunction HPO2016_07_04:HP:0000220 C4078861 Non ketotic hyperglycinemia syndrome Non ketotic hyperglycinemia syndrome MSH2017_2016_08_12:C000601856 C3696981 Paratesticular malignant neoplasm Paratesticular malignant neoplasm | Paratesticular malignant neoplasm (disorder) | Paratesticular malignant tumor | Paratesticular malignant tumour SNOMEDCT_US_2016_09_01:699317002 C0030252 Palpitations CHEST SYMPTOM PALPITATION | HEART THROBBING | Heart throbbing | PALPITATION | PALPITATIONS | Palpitation | Palpitation(s) | Palpitations | Palpitations (finding) | Palpitations NOS | Palpitations NOS (finding) | [D]Palpitations | [D]Palpitations (context-dependent category) | [D]Palpitations (situation) | [D]Palpitations NOS | [D]Palpitations NOS (context-dependent category) | [D]Palpitations NOS (situation) | heart irregularities | heart throb | heart throbbing | palpitation | palpitations | palpitations (diagnosis) | palpitations (symptom) HPO2016_07_04:A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. [HPO:probinson] | NCI2016_02D:An unpleasant sensation of irregular and/or forceful beating of the heart. | NCI2016_CTCAE_1602D:A disorder characterized by an unpleasant sensation of irregular and/or forceful beating of the heart. | NCI2016_NCI-GLOSS_1602D:A rapid or irregular heartbeat that a person can feel. | NCI2016_NICHD_1602D:The sensation of an irregular and/or forceful heart beat. HPO2016_07_04:HP:0001962|ICD10CM_2017:R00.2|ICD9CM_2014:785.1|OMIM2016_04_17:MTHU005271|OMIM2016_04_17:MTHU037195|SNOMEDCT_US_2016_09_01:139222008|SNOMEDCT_US_2016_09_01:139224009|SNOMEDCT_US_2016_09_01:139227002|SNOMEDCT_US_2016_09_01:158334000|SNOMEDCT_US_2016_09_01:158336003|SNOMEDCT_US_2016_09_01:161965005|SNOMEDCT_US_2016_09_01:161967002|SNOMEDCT_US_2016_09_01:161970003|SNOMEDCT_US_2016_09_01:207004005|SNOMEDCT_US_2016_09_01:207006007|SNOMEDCT_US_2016_09_01:80313002 C0010153 Corynebacterium infections Corynebacteria infections | Corynebacteriosis | Corynebacterium Infection | Corynebacterium Infections | Corynebacterium Infections [Disease/Finding] | Corynebacterium infection | Corynebacterium infection NOS | Infection caused by Corynebacterium | Infection caused by Corynebacterium (disorder) | Infection due to Corynebacterium | Infection due to Corynebacterium (disorder) | Infection due to corynebacterium | Infection due to corynebacterium (disorder) | Infection, Corynebacterium | Infections, Corynebacterium MSH2017_2016_08_12:Infections with bacteria of the genus CORYNEBACTERIUM. MSH2017_2016_08_12:D003354|SNOMEDCT_US_2016_09_01:397434007 C0279584 B-cell childhood acute lymphoblastic leukemia ALL, childhood B-cell | ALL, pediatric B-cell | B Cell Childhood ALL | B Cell Childhood Acute Lymphoblastic Leukemia | B Cell Childhood Acute Lymphocytic Leukemia | B Cell Pediatric ALL | B Cell Pediatric Acute Lymphoblastic Leukemia | B Cell Pediatric Acute Lymphocytic Leukemia | B cell ALL, childhood | B cell ALL, pediatric | B cell acute lymphocytic leukemia, childhood | B cell childhood ALL | B cell childhood acute lymphocytic leukemia | B cell pediatric ALL | B cell pediatric acute lymphocytic leukemia | B-Cell Childhood ALL | B-Cell Childhood Acute Lymphoblastic Leukemia | B-Cell Childhood Acute Lymphocytic Leukemia | B-Cell Childhood Acute Lymphogenous Leukemia | B-Cell Childhood Acute Lymphoid Leukemia | B-Cell Pediatric ALL | B-Cell Pediatric Acute Lymphoblastic Leukemia | B-Cell Pediatric Acute Lymphocytic Leukemia | B-Cell Pediatric Acute Lymphogenous Leukemia | B-Cell Pediatric Acute Lymphoid Leukemia | B-cell ALL, childhood | B-cell ALL, pediatric | B-cell acute lymphocytic leukemia, childhood | B-cell childhood ALL | B-cell childhood acute lymphoblastic leukemia | B-cell childhood acute lymphocytic leukemia | B-cell pediatric ALL | B-cell pediatric acute lymphocytic leukemia | Childhood B Acute Lymphoblastic Leukemia | Childhood Precursor B-Lymphoblastic Leukemia | acute lymphoblastic leukemia, childhood B-cell | acute lymphocytic leukemia, childhood B-cell | childhood ALL, B cell | childhood ALL, B-cell | childhood acute lymphoblastic leukemia, B-cell | childhood acute lymphocytic leukemia, B-cell | leukemia, childhood acute lymphocytic leukemia, B-cell | leukemia, pediatric acute lymphocytic leukemia, B-cell | pediatric ALL, B cell | pediatric ALL, B-cell | pediatric acute lymphocytic leukemia, B-cell NCI2016_02D:An acute B-lymphoblastic leukemia occurring in children. C3150680 Bone mineral density quantitative trait locus 15 BMND15 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 | COMPRESSION FRACTURE, SUSCEPTIBILITY TO | METAPHYSEAL FRACTURE, SUSCEPTIBILITY TO | OSTEOPOROSIS, SUSCEPTIBILITY TO OMIM2016_04_17:613405|OMIM2016_04_17:613418 C0006147 Breast fed BF - Breast fed | BF - Breast-feeding | BF - Breastfed | BF - Breastfeeding | BREAST FEEDING | Breast Feeding | Breast fed | Breast fed (finding) | Breast feeding | Breast feeding (function) | Breast feeding, NOS | Breast feeding, function (observable entity) | Breastfeeding | Feeding, Breast | Infant breast fed | Infant breastfed | Lactation | Nursing | breast fed | breast fed infant | breast fed infants | breast feed | breast feeding | breast feedings | breastfeed | breastfeeding | breastfeedings | breasting feeding CSP2006:nursing of an infant at the mother's breast. | MEDLINEPLUS_20151021:Breastfeeding offers many benefits to your baby. Breast milk contains the right balance of nutrients to help your infant grow into a strong and healthy toddler. Some of the nutrients in breast milk also help protect your infant against some common childhood illnesses and infections. It may also help your health. Certain types of cancer may occur less often in mothers who have breastfed their babies.
Women who don't have health problems should try to give their babies breast milk for at least the first six months of life. There are some cases when it's better not to breastfeed. If you have HIV or active tuberculosis, you should not breastfeed because you could give the infection to your baby. Certain medicines, illegal drugs, and alcohol can also pass through the breast milk and cause harm to your baby.
If you are having problems with breastfeeding, contact a lactation consultant.
NIH: National Institute of Child Health and Human Development
| MSH2017_2016_08_12:The nursing of an infant at the breast. | NCI2016_02D:The nursing of an infant at the mother's breast. | NCI2016_NICHD_1602D:The nursing of an infant at the mother's breast. MSH2017_2016_08_12:D001942|SNOMEDCT_US_2016_09_01:12434007|SNOMEDCT_US_2016_09_01:146973009|SNOMEDCT_US_2016_09_01:169741004 C0006309 Brucellosis BRUCELLOSIS | Bruce | Brucella infections | Brucella; infection | Brucelloses | Brucellosis | Brucellosis (disorder) | Brucellosis NOS | Brucellosis NOS (disorder) | Brucellosis [Disease/Finding] | Brucellosis due to Brucella sp. | Brucellosis due to Brucella sp. (disorder) | Brucellosis due to Brucella species | Brucellosis due to Brucella species (disorder) | Brucellosis, NOS | Brucellosis, unspecified | Cyprus Fever | Cyprus Fevers | Cyprus fever | FEVER, MALTA | FEVER, MEDITERRANEAN | FEVER, UNDULANT | Fever, Cyprus | Fever, Gibraltar | Fever, Malta | Fever, Rock | Fever, Undulant | Fevers, Cyprus | Fevers, Rock | Fevers, Undulant | Gibraltar Fever | Gibraltar fever | Gibraltar; fever | Infection due to Brucella | MALTA FEVER | MEDITERRANEAN FEVER | MELITOCOCCOSIS | Malta Fever | Malta fever | Malta; fever | Mediterranean fever | Rock Fever | Rock Fevers | Rock fever | UNDULANT FEVER | Undulant Fever | Undulant Fevers | Undulant fever | Unspecified brucellosis | [X]Brucellosis, unspecified | [X]Brucellosis, unspecified (disorder) | brucelloses | brucellosis | brucellosis (diagnosis) | cyprus fever | fever malta | fever mediterranean | fever; Cyprus | fever; Gibraltar | fever; Malta | infection; Brucella | malta fever | mediterranean fever | rock fever | undulant fever MSH2017_2016_08_12:Infection caused by bacteria of the genus BRUCELLA mainly involving the MONONUCLEAR PHAGOCYTE SYSTEM. This condition is characterized by fever, weakness, malaise, and weight loss. | MSHFRE2016:Infection provoqu茅e par des bact茅ries du genre Brucella impliquant surtout le syst猫me r茅ticulo-endoth茅lial. Maladie caract茅ris茅e par fi猫vre, affaiblissement, malaise et amaigrissement. | NCI2016_02D:A gram negative bacterial infection caused by bacteria of the genus Brucella. Humans are infected by ingesting unpasteurized milk or meat from infected animals. Signs and symptoms include fevers, sweating, weakness, headache, muscle pain, arthritis and anemia. ICD10CM_2017:A23|ICD10CM_2017:A23.9|ICD9CM_2014:023|ICD9CM_2014:023.9|MSH2017_2016_08_12:D002006|SNOMEDCT_US_2016_09_01:111804008|SNOMEDCT_US_2016_09_01:154296006|SNOMEDCT_US_2016_09_01:186310006|SNOMEDCT_US_2016_09_01:187304000|SNOMEDCT_US_2016_09_01:75702008 C0432242 Desbuquois syndrome DBQD | DESBUQUOIS SYNDROME | Desbuquois Dysplasia | Desbuquois syndrome | Desbuquois syndrome (disorder) | MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION | Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification JABL99:A syndrome with a wide clinical spectrum, consisting of chondrodystrophy, micromelic dwarfism, vertebral and metaphyseal abnormalities, advanced carpotarsal ossification, dislocation of the patellae and hips, glaucoma, and mental deficiency. | NCI2016_02D:A rare osteochondrodysplasia characterized by short stature, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities, and advanced carpotarsal ossification. Two forms have been identified: type 1 caused by mutation in the gene CANT1 and type 2 caused by mutations in the gene XYLT1. MSH2017_2016_08_12:C535943|OMIM2016_04_17:251450|SNOMEDCT_US_2016_09_01:254099008 C1846148 Sketetal dysplasia coarse facies mental retardation SEMD, X-LINKED, WITH MENTAL DETERIORATION | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION | Sketetal dysplasia coarse facies mental retardation | Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration | Spondyloepimetaphyseal dysplasia X-linked with mental deterioration MSH2017_2016_08_12:C536671|OMIM2016_04_17:300232 C0266521 Marcus gunn phenomenon Abnormal eyelid innervation syndrome | Abnormal innervation syndrome of eyelid | Familial Marcus Gunn phenomenon | JAW-WINKING | Jaw blinking | Jaw winking | Jaw winking syndrome | Jaw-blinking | Jaw-blinking (disorder) | Jaw-winking | Jaw-winking syndrome | Jaw-winking syndrome (disorder) | Jaw-winking syndrome [Ambiguous] | MARCUS GUNN PHENOMENON | MAXILLOPALPEBRAL SYNKINESIS | Marcus Gunn | Marcus Gunn phenomenon | Marcus Gunn phenonemon | Marcus Gunn syndrome | Marcus Gunn's syndrome | Marcus-Gunn jaw winking | Marcus-Gunn syndrome | Marcus-Gunn syndrome (diagnosis) | Maxillopalpebral synkinesis | Pterygoid-levator synkinesis | jaw wink | jaw winking | jaw winking syndrome | jaw-winking | jaw-winking; syndrome | marcus gunn syndrome | syndrome; jaw-winking | winking jaw ICD10CM_2017:Q07.8|ICD9CM_2014:374.43|MSH2017_2016_08_12:C535908|OMIM2016_04_17:154600|SNOMEDCT_US_2016_09_01:193949006|SNOMEDCT_US_2016_09_01:204089009|SNOMEDCT_US_2016_09_01:204090000|SNOMEDCT_US_2016_09_01:36603006|SNOMEDCT_US_2016_09_01:5127009 C2677079 Inflammatory bowel disease 19 IBD19 | INFLAMMATORY BOWEL DISEASE 19 | Inflammatory Bowel Disease 19 MSH2017_2016_08_12:C567372|OMIM2016_04_17:608212|OMIM2016_04_17:612278 C0919746 Engraftment syndrome Engraftment Syndrome | Engraftment syndrome | Engraftment syndrome (disorder) NCI2016_02D:A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation. SNOMEDCT_US_2016_09_01:426768001 C4014430 Eiee21 EIEE21 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 OMIM2016_04_17:615833 C1838571 Ceroid lipofuscinosis, neuronal, 7 CEROID LIPOFUSCINOSIS, NEURONAL, 7 | CLN7 | Ceroid Lipofuscinosis, Neuronal, 7 MSH2017_2016_08_12:C563989|OMIM2016_04_17:610951|OMIM2016_04_17:611124 C0013428 Dysuria DYSURIA | Dysuria | Dysuria (finding) | Dysuria NOS | Dysuria [Disease/Finding] | Dysuria, NOS | Dysuria/painful urination | MICTURITION PAINFUL | Micturition painful | PAINFUL URINATION | Pain associated with micturition | Pain emptying bladder | Pain on micturition | Pain on voiding | Pain passing urine | Pain passing water | Pain with urination | Pain;urination | Painful micturit,unspecif | Painful micturition | Painful micturition, unspecified | Painful or difficult urination | Painful urination | Painful urination NOS | Passing water hurts | URINATION PAIN | Urination pain | Urination painful | VOIDING PAIN | [D]Dysuria | [D]Dysuria (context-dependent category) | [D]Dysuria (situation) | [D]Dysuria NOS | [D]Dysuria NOS (context-dependent category) | [D]Dysuria NOS (situation) | [D]Painful urination | [D]Painful urination (context-dependent category) | [D]Painful urination (situation) | [X]Painful micturit,unspecif | [X]Painful micturition, unspecified | [X]Painful micturition, unspecified (context-dependent category) | [X]Painful micturition, unspecified (finding) | dysuria | micturition; pain | micturition; painful | pain during urination | pain during urination (dysuria) | pain during urination (symptom) | pain with urination | pain; micturition | painful micturition | painful urination | painful; micturition | painful; urination | urination pain | urination; painful HPO2016_07_04:Painful or difficult urination. [HPO:probinson] | MSH2017_2016_08_12:Painful URINATION. It is often associated with infections of the lower URINARY TRACT. | NCI2016_02D:Pain or discomfort during urination. | NCI2016_FDA_1602D:Difficulty or pain in urination. | NCI2016_NICHD_1602D:Pain or discomfort during urination. HPO2016_07_04:HP:0100518|ICD10CM_2017:R30|ICD10CM_2017:R30.0|ICD10CM_2017:R30.9|ICD9CM_2014:788.1|MSH2017_2016_08_12:D053159|OMIM2016_04_17:MTHU037118|SNOMEDCT_US_2016_09_01:139423000|SNOMEDCT_US_2016_09_01:158460003|SNOMEDCT_US_2016_09_01:158461004|SNOMEDCT_US_2016_09_01:158463001|SNOMEDCT_US_2016_09_01:207159007|SNOMEDCT_US_2016_09_01:207160002|SNOMEDCT_US_2016_09_01:207162005|SNOMEDCT_US_2016_09_01:207604009|SNOMEDCT_US_2016_09_01:49650001 C1842939 Deafness, autosomal dominant 48 DEAFNESS, AUTOSOMAL DOMINANT 48 | DFNA48 | Deafness, Autosomal Dominant 48 MSH2017_2016_08_12:C564322|OMIM2016_04_17:607841 C1855644 Keratoderma, palmoplantar, norrbotten recessive type Keratoderma, Palmoplantar, Norrbotten Recessive Type | PALMOPLANTAR KERATODERMA, NORRBOTTEN RECESSIVE TYPE | PPKNR MSH2017_2016_08_12:C565454|OMIM2016_04_17:244850 C0024421 Macroglossia Abnormally large tongue | ENLARGED TONGUE | Enlarged tongue | Enlarged tongue (disorder) | Enlarged tongue (finding) | Enlargement of tongue | Enlargement of tongue (disorder) | Glossal hypertrophy | Hyperplasia of the tongue | Hypertrophy of the tongue | Hypertrophy of tongue | Increased size of tongue | Large tongue | Lingual hyperplasia | Lingual hypertrophy | MACROGLOSSIA | Macroglossia | Macroglossia [Disease/Finding] | Macroglossias | Tongue Enlarged | Tongue enlarged | Tongue hypertrophy | enlarged tongue | enlargement; tongue | hypertrophy of tongue | hypertrophy of tongue (diagnosis) | hypertrophy; tongue | large tongue | large tongues | macroglossia | macroglossia (physical finding) | tongue enlargement | tongue hypertrophy | tongue; enlargement | tongue; hypertrophy HPO2016_07_04:Increased length and width of the tongue. [pmid:19125428] | MSH2017_2016_08_12:The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992) | NCI2016_02D:A finding indicating enlargement of the tongue. HPO2016_07_04:HP:0000158|ICD10CM_2017:K14.8|MSH2017_2016_08_12:D008260|OMIM2016_04_17:153630|OMIM2016_04_17:MTHU000268|OMIM2016_04_17:MTHU003602|OMIM2016_04_17:MTHU012925|OMIM2016_04_17:MTHU042787|SNOMEDCT_US_2016_09_01:204628000|SNOMEDCT_US_2016_09_01:25273001|SNOMEDCT_US_2016_09_01:302216004|SNOMEDCT_US_2016_09_01:52106009 C0751406 Post-traumatic osteoporosis Osteoporosis, Post Traumatic | Osteoporosis, Post-Traumatic | Osteoporosis, post-traumatic | Post-Traumatic Osteoporoses | Post-Traumatic Osteoporosis | Post-traumatic osteoporosis | Posttraumatic atrophy of bone | Posttraumatic osteoporosis | Posttraumatic osteoporosis (disorder) | osteoporosis; post-traumatic | post-traumatic; osteoporosis MSH2017_2016_08_12:D010024|SNOMEDCT_US_2016_09_01:15743005 C0241961 Angiomyolipoma of kidney Angiomyolipoma | Angiomyolipoma of Kidney | Angiomyolipoma of kidney | Angiomyolipoma of kidney (disorder) | Angiomyolipoma of the Kidney | Hamartoma of kidney | KIDNEY, ANGIOMYOLIPOMA | Kidney Angiomyolipoma | Kidney angiomyolipoma | Renal Angiomyolipoma | Renal angiomyolipoma | angiomyolipoma kidney | angiomyolipoma kidneys | angiomyolipoma of kidney | angiomyolipoma of kidney (diagnosis) | kidney angiomyolipoma | renal angiomyolipoma HPO2016_07_04:A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. [HPO:probinson] | NCI2016_02D:An angiomyolipoma arising from the kidney. HPO2016_07_04:HP:0006772|OMIM2016_04_17:MTHU020005|SNOMEDCT_US_2016_09_01:254921004 C0011303 Demyelinating diseases Demyelinating Disease | Demyelinating Diseases | Demyelinating Diseases [Disease/Finding] | Demyelinating Disorder | Demyelinating Disorders | Demyelinating Nervous System Diseases and Syndromes | Demyelinating disorders | Demyelinating nervous system disease or syndrome | Demyelination disorder NOS | demyelinated diseases | demyelinating disease | demyelinating diseases | demyelinating disorder | demyelinating disorders | demyelination disorders | disease demyelinating MSH2017_2016_08_12:Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system. | NCI2016_02D:A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others. MSH2017_2016_08_12:D003711 C1855303 Belgian type mental retardation syndrome Belgian type mental retardation syndrome | MENTAL RETARDATION SYNDROME, BELGIAN TYPE | Mental retardation syndrome, Belgian type MSH2017_2016_08_12:C537447|OMIM2016_04_17:249599 C1835826 Renal hypodysplasia, nonsyndromic, 1 RENAL HYPODYSPLASIA, NONSYNDROMIC, 1 | RHDNS1 | Renal Hypodysplasia, Nonsyndromic, 1 MSH2017_2016_08_12:C563661|OMIM2016_04_17:610805 C4023710 Palmar hyperkeratosis Palmar hyperkeratosis HPO2016_07_04:Hyperkeratosis affecting the palm of the hand. [HPO:probinson] HPO2016_07_04:HP:0010765 C1861226 Small abnormally formed scapulae Small abnormally formed scapula | Small abnormally formed scapulae | Small abnormally formed shoulder blade HPO2016_07_04:HP:0006584|OMIM2016_04_17:MTHU015313|OMIM2016_04_17:MTHU015326 C0431795 Proximal radioulnar synostosis Proximal radioulnar synostosis | Proximal radioulnar synostosis (disorder) SNOMEDCT_US_2016_09_01:205253000 C1306889 Peripheral arterial occlusive disease Occlusive arterial disease | PAOD - Peripheral arterial occlusive disease | Peripheral Arterial Occlusive Disease | Peripheral arterial occlusive disease | Peripheral arterial occlusive disease (disorder) | Peripheral artery occlusive disease | Peripheral obliterative arteriopathy HPO2016_07_04:A narrowing of the peripheral arteries (i.e., of arteries other than thos that supply the heart and the brain). [] | NCI2016_02D:Disorder caused by the occlusion of the lumen of the peripheral arteries. Causes include atherosclerosis, inflammatory processes, thrombosis, and embolism. The arterial occlusion results in chronic or acute pain usually in the lower limbs due to muscle ischemia. HPO2016_07_04:HP:0005315|SNOMEDCT_US_2016_09_01:399957001|SNOMEDCT_US_2016_09_01:91523003 C1860606 Short proximal phalanges Hypoplasia of the proximal phalanges of the hand | Short innermost finger bones | Short proximal phalanges | Short proximal phalanx of finger | Shortening in proximal phalanges HPO2016_07_04:Congenital hypoplasia of one or more proximal phalanx of finger. [HPO:probinson] HPO2016_07_04:HP:0010241|OMIM2016_04_17:MTHU015132 C0004421 Avian leukosis Avian Leukoses | Avian Leukosis | Avian Leukosis [Disease/Finding] | Avian leukosis | Avian leukosis (disorder) | Avian leukosis-sarcoma group | Leukoses, Avian | Leukosis, Avian | Lymphoid leukosis | avian leukosis MSH2017_2016_08_12:A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere. MSH2017_2016_08_12:D001353|SNOMEDCT_US_2016_09_01:407505002|SNOMEDCT_US_2016_09_01:58485008 C1850321 Oeis complex OEIS COMPLEX | OEIS Complex | OEIS Syndrome | OEIS complex | OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS | Omphalocele exstrophy imperforate anus | Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects | Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects NCI2016_02D:A rare combination of congenital abnormalities that includes omphalocele, cloacal exstrophy, imperforate anus, and spine abnormalities. MSH2017_2016_08_12:C537748|OMIM2016_04_17:258040 C0278202 Seizure, partial, illusions, hallucinations Partial seizure with illusions and hallucinations | Partial seizure with illusions and hallucinations (disorder) | Partial seizure with illusions and hallucinations (finding) | Seizure, partial, illusions, hallucinations SNOMEDCT_US_2016_09_01:42440009 C0155287 Visual pathway disorder DISORDERS OF THE VISUAL PATHWAYS | Disorder of afferent visual pathways | Disorder of visual pathway | Disorder of visual pathways | Disorder of visual pathways (disorder) | Disorder of visual pathways, NOS | Disorder of visual pathways, unspecified | Unspecified disorder of visual pathways | Visual Pathway Disorder | Visual path disorder | Visual path disorders | Visual path disorders NOS | Visual pathway disorder | Visual pathway disorder NOS | Visual pathway disorders | disease (or disorder); visual pathways | visual pathway disorder ICD10CM_2017:H47.9|SNOMEDCT_US_2016_09_01:155191004|SNOMEDCT_US_2016_09_01:194037001|SNOMEDCT_US_2016_09_01:267741008|SNOMEDCT_US_2016_09_01:267744000|SNOMEDCT_US_2016_09_01:54767005 C1839262 Spatial visualization, aptitude for SPATIAL VISUALIZATION, APTITUDE FOR | VISUOSPATIAL/PERCEPTUAL ABILITIES | VSPA OMIM2016_04_17:313000 C1854181 Fibromatosis, gingival, 2 FIBROMATOSIS, GINGIVAL, 2 | FIBROMATOSIS, GINGIVAL, HEREDITARY, 2 | Fibromatosis, Gingival, 2 | Fibromatosis, Gingival, Hereditary, 2 | GGF2 | GINGF2 | HGF2 MSH2017_2016_08_12:C565323|OMIM2016_04_17:605544 C4018849 Abnormal fear/anxiety-related behavior Abnormal fear/anxiety-related behavior HPO2016_07_04:An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. [HPO:sdoelken] HPO2016_07_04:HP:0100852 C4020844 Bullet vertebral body Bullet vertebral body HPO2016_07_04:HP:0003300 C1855331 Olfactory lobe absence Olfactory lobe absence | Olfactory lobe agenesis HPO2016_07_04:HP:0001341|OMIM2016_04_17:MTHU011715 C2751878 Hadziselimovic syndrome HADZISELIMOVIC SYNDROME | Hadziselimovic Syndrome | MICROCEPHALY-FACIOCARDIOSKELETAL SYNDROME | Microcephaly-Faciocardioskeletal Syndrome MSH2017_2016_08_12:C567850|OMIM2016_04_17:612946 C1840379 Cerebellar vermis hypoplasia Cerebellar vermal hypoplasia | Cerebellar vermis hypoplasia | Hypoplasia of the cerebellar vermis | Hypoplastic cerebellar vermis HPO2016_07_04:Underdevelopment of the vermis of cerebellum. [HPO:probinson] HPO2016_07_04:HP:0001320|OMIM2016_04_17:MTHU000619|OMIM2016_04_17:MTHU004395|OMIM2016_04_17:MTHU014179|OMIM2016_04_17:MTHU017760 C0376620 Pouchitis Ileitis, Pouch | Pouch Ileitis | Pouchitis | Pouchitis [Disease/Finding] | pouchitis | pouchitis (diagnosis) MSH2017_2016_08_12:Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE). ICD10CM_2017:K91.850|ICD9CM_2014:569.71|MSH2017_2016_08_12:D019449 C1838313 Pick complex PICK COMPLEX | Pick Complex MSH2017_2016_08_12:C563966|OMIM2016_04_17:600274 C3279561 Hemoglobin h disease, nondeletional HEMOGLOBIN H DISEASE, NONDELETIONAL OMIM2016_04_17:141850|OMIM2016_04_17:613978 C1328840 Autoimmune lymphoproliferative syndrome ALPS | ALPS (autoimmune lymphoproliferative syndrome) | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | Autoimmune Lymphoproliferative Syndrome | Autoimmune Lymphoproliferative Syndrome [Disease/Finding] | Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant | Autoimmune Lymphoproliferative Syndromes | Autoimmune lymphoproliferative syndrome | Autoimmune lymphoproliferative syndrome (disorder) | Autoimmune lymphoproliferative syndrome [ALPS] | CANALE-SMITH SYNDROME | Canale Smith Syndrome | Canale-Smith Syndrome | Canale-Smith Syndromes | Canale-Smith syndrome | Lymphoproliferative Syndrome, Autoimmune | Lymphoproliferative Syndromes, Autoimmune | Syndrome, Autoimmune Lymphoproliferative | Syndrome, Canale Smith | Syndrome, Canale-Smith | Syndromes, Autoimmune Lymphoproliferative | Syndromes, Canale-Smith | autoimmune lymphoproliferative syndrome MSH2017_2016_08_12:Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY. | NCI2016_02D:An autoimmune hematologic disorder characterized by autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatomegaly and splenomegaly. Patients are at an increased risk of developing Hodgkin and non-Hodgkin lymphomas. ICD10CM_2017:D89.82|ICD9CM_2014:279.41|MSH2017_2016_08_12:D056735|OMIM2016_04_17:601859|SNOMEDCT_US_2016_09_01:702444009 C3887514 Chromophobe carcinoma Chromophobe adenocarcinoma | Chromophobe carcinoma | Chromophobe carcinoma (morphologic abnormality) SNOMEDCT_US_2016_09_01:1443001 C0555206 Chiari malformation type ii Arnold Chiari Malformation, Type 2 | Arnold Chiari Malformation, Type II | Arnold Chiari type 2 | Arnold-Chiari Malformation, Type 2 | Arnold-Chiari Malformation, Type II | Arnold-Chiari malformation type II | Arnold-Chiari syndrome, type II | CHIARI MALFORMATION TYPE II | CM2 | Chiari Malformation Type 2 | Chiari Malformation Type II | Chiari malformation type II | Chiari malformation type II (disorder) | Chiari malformation, type II | Type II Arnold Chiari Malformation | Type II Arnold Chiari malformation | Type II Arnold-Chiari Malformation | type II Arnold-Chiari malformation | type II Chiari malformation | type II Chiari malformation (diagnosis) ICD10CM_2017:Q07.0|MSH2017_2016_08_12:D001139|OMIM2016_04_17:207950|OMIM2016_04_17:MTHU022221|SNOMEDCT_US_2016_09_01:373587001 C0271453 Otitis media serous OTITIS MEDIA SEROUS | OTITIS MEDIA, SEROUS | Otitis Media, Serous | Otitis media serous | Otitis media serous NOS | Otitis media, serous | Otitis media;serous | SEROUS OTITIS MEDIA | Serous Otitis Media | Serous otitis media | Serous otitis media (disorder) | Serous otitis media NOS | Serous otitis media NOS (disorder) | media otitis serous | otitis media serous | otitis; media, serous | serous nonsuppurative otitis media | serous otitis media | serous otitis media (diagnosis) ICD10CM_2017:H65.9|MSH2017_2016_08_12:D010034|OMIM2016_04_17:MTHU048296|SNOMEDCT_US_2016_09_01:194262006|SNOMEDCT_US_2016_09_01:80327007 C0019159 Hepatitis a HAV | HEPATITIS A | HEPATITIS INFECTIOUS | HEPATITIS, INFECTIOUS | Hep A | Hep A, NOS | Hepatitides, Infectious | Hepatitis | Hepatitis A | Hepatitis A Infection | Hepatitis A [Disease/Finding] | Hepatitis infectious | Hepatitis infectious NOS | Hepatitis, Infectious | Hepatitis;infectious | IH - Infectious hepatitis | Infectious Hepatitides | Infectious Hepatitis | Infectious Viral Hepatitis | Infectious hepatitis | Infectious hepatitis (disorder) | Viral hepatitis A | Viral hepatitis, type A | Viral hepatitis, type A (disorder) | a hepatitis | epidemic; hepatitis | hep a | hepatitis | hepatitis A | hepatitis A infection | hepatitis A infection (diagnosis) | hepatitis A viral infection | hepatitis a | hepatitis viral | hepatitis, A virus | hepatitis; epidemic | hepatitis; infectious | hepatitis; virus, type, A | infectious hepatitis | infectious hepatitis (hepatitis A) | infectious hepatitis a | infectious; hepatitis | virus; hepatitis, type, A CSP2006:hepatitis caused by Hepatovirus (Hepatitis A virus); it can be transmitted through fecal contamination of food or water. | CSP2006:inflammation of the liver due to microorganism infection. | HL7V3.0_2015_07:hepatitis A vaccine, NOS
| MEDLINEPLUS_20151021:Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. One type, hepatitis A, is caused by the hepatitis A virus (HAV). The disease spreads through contact with an infected person's stool. You can get it from
Most people do not have any symptoms. If you do have symptoms, you may feel as if you have the flu. You may also have yellowish eyes and skin, called jaundice. A blood test will show if you have HAV.
HAV usually gets better in a few weeks without treatment. However, some people can have symptoms for up to 6 months. Your doctor may suggest medicines to help relieve your symptoms.
The hepatitis A vaccine can prevent HAV. Good hygiene can also help. Wash your hands thoroughly before preparing food, after using the toilet, or after changing a diaper. International travelers should be careful about drinking tap water.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
| MSH2017_2016_08_12:INFLAMMATION of the LIVER in humans caused by a member of the HEPATOVIRUS genus, HUMAN HEPATITIS A VIRUS. It can be transmitted through fecal contamination of food or water. | NCI2016_02D:Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water. MSH2017_2016_08_12:D006506|SNOMEDCT_US_2016_09_01:154347003|SNOMEDCT_US_2016_09_01:40468003 C0011813 Dextrocardia DEXTROCARDIA | Dextrocardia | Dextrocardia (disorder) | Dextrocardia [Disease/Finding] | Dextrocardias | HEART DEXTROPOSITION | Heart in right chest | Heart predominantly in right hemithorax | Heart predominantly in right hemithorax (disorder) | Right sided heart | Thoracic situs inversus | dextrocardia | dextrocardia (diagnosis) | heart; malposition, congenital, dextrocardia | malposition; congenital, heart, dextrocardia | right sided heart HPO2016_07_04:The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left." [DDD:dbrown, HPO:sdoelken] | MSH2017_2016_08_12:A congenital defect in which the heart is located on the right side of the THORAX instead of on the left side (levocardia, the normal position). When dextrocardia is accompanied with inverted HEART ATRIA, a right-sided STOMACH, and a left-sided LIVER, the combination is called dextrocardia with SITUS INVERSUS. Dextrocardia may adversely affect other thoracic organs. | NCI2016_02D:A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects. | NCI2016_CDISC_1602D:A congenital abnormality in which the heart is located in the right side of the chest. HPO2016_07_04:HP:0001651|ICD10CM_2017:Q24.0|MSH2017_2016_08_12:D003914|OMIM2016_04_17:MTHU037624|SNOMEDCT_US_2016_09_01:156925007|SNOMEDCT_US_2016_09_01:27637000 C1304512 Hobnail hemangioendothelioma Hobnail Hemangioendothelioma | Retiform Hemangioendothelioma | Retiform haemangioendothelioma | Retiform hemangioendo