{"orpha":95717,"name":"Idiopathic congenital hypothyroidism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary congenital hypothyroidsm without throid developmental anomaly characterized by hypothroidsm present at birth without a known cause. The thyroid gland is normal in shape, size and location. Goiter is always absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95717/","orphanet_url":"https://www.orpha.net/en/disease/detail/95717","names":{"fr":{"name":"Hypothyroïdie congénitale idiopathique","definition":"Hypothyroïdie congénitale primaire rare, sans anomalie du développement thyroïdien, caractérisée par une hypothyroïdie présente à la naissance sans cause connue. La glande thyroïde présente une forme, une taille et une localisation normales. Il n'y a jamais de goitre."},"de":{"name":"Hypothyreose, kongenitale, idiopathische","definition":"Die idiopathische kongenitale Hypothyreose ist ein Typ von primärer kongenitaler Hypothyreose (s. dort), deren Ursache und Prävalenz nicht bekannt sind."},"es":{"name":"Hipotiroidismo congénito idiopático","definition":"Es un hipotiroidismo congénito primario poco frecuente, sin anomalías del desarrollo tiroideo, caracterizado por hipotiroidismo presente al nacimiento sin causa conocida. La glándula tiroides presenta una forma, tamaño y ubicación normales. Nunca asocia bocio."},"it":{"name":"Ipotiroidismo idiopatico congenito"},"nl":{"name":"Idiopathische congenitale hypothyreoïdie","definition":"Een zeldzame primaire congenitale hypothyreoïdie zonder ontwikkelingsdefect van de schildklier, gekenmerkt door hypothyreoïdie die aanwezig is bij de geboorte zonder een gekende oorzaak. De schildklier heeft een normale vorm, omvang en locatie. Struma is altijd afwezig."},"pt":{"name":"Hipotiroidismo congénito idiopático","definition":"O hipotiroidismo congénito idiopático é um tipo de hipotiroidismo congénito primário (ver este termo)."},"pl":{"name":"Idiopatyczna wrodzona niedoczynność tarczycy"},"cs":{"name":"Idiopatická vrozená hypotyreóza"},"uk":{"name":"Ідіопатичний вроджений гіпотиреоз","definition":"Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism (see this term) whose cause and prevalence are unknown."},"zh":{"name":"特发性先天性甲状腺功能减退症","definition":"特发性先天性甲状腺功能减退症是原发性先天性甲状腺功能减退症（见该词条）的一种，其病因和患病率尚不清楚。"},"tr":{"name":"İdiyopatik doğumsal hipotiroidi"}},"xrefs":[{"source":"ICD-10","code":"E03.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"720883616"},{"source":"MONDO","code":"0019858","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273913","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":95714,"name":"Primary congenital hypothyroidism without thyroid developmental anomaly","classifications":[156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-04","source":"26313902[PMID]_25634148[PMID]_20537182[PMID]_30324792[PMID]","terms":[{"hpo":"HP:0031507","label":"Decreased circulating thyroxine level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002925","label":"Elevated circulating thyroid-stimulating hormone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008828","label":"Delayed proximal femoral epiphyseal ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004491","label":"Large posterior fontanelle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0031220","label":"Increased radioactive iodine uptake","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0011437","label":"Maternal autoimmune disease","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0031219","label":"Reduced radioactive iodine uptake","frequency":"Excluded (0%)","criteria":null}]}}