{"orpha":95714,"name":"Primary congenital hypothyroidism without thyroid developmental anomaly","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95714/","orphanet_url":"https://www.orpha.net/en/disease/detail/95714","names":{"fr":{"name":"Hypothyroïdie congénitale primitive sans anomalie de développement de la thyroïde","definition":"L'hypothyroïdie congénitale primitive sans anomalie de développement de la thyroïde est une forme d'hypothyroïdie congénitale primitive où la glande thyroïde est anatomiquement normale. Elle peut être due soit à une résistance à la TSH (<i>thyroid stimulating hormone</i>) par mutations du récepteur de la TSH soit à des erreurs innées de la synthèse des hormones thyroïdiennes (ou dyshormonosynthèse thyroïdienne) et provoque une insuffisance permanente en hormones thyroïdiennes présente dès la naissance."},"de":{"name":"Hypothyreose, kongenitale primäre, ohne Entwicklungsanomalie der Schilddrüse","definition":"Die primäre kongenitale Hypothyreose ohne Entwicklungsanomalie der Schilddrüse ist ein Typ der primären kongenitalen Hypothyreose (s. dort) mit anatomisch normaler Schilddrüse."},"es":{"name":"Hipotiroidismo congénito primario sin anomalía del desarrollo del tiroides","definition":"Es un tipo de hipotiroidismo primario congénito en el que la glándula tiroides es anatómicamente normal."},"it":{"name":"Ipotiroidismo congenito primitivo senza anomalia dello sviluppo della tiroide"},"nl":{"name":"Pimaire congenitale hypothyreoïdie zonder schildklierontwikkelingsanomalie","definition":"Een type van primaire congenitale hypothyreoïdie, waarbij de schildklier anatomisch normaal is."},"pt":{"name":"Hipotiroidismo congénito primário sem anomalia do desenvolvimento da tiroide","definition":"O hipotireoidismo primário congénito sem anomalia do desenvolvimento da tireóide é um tipo de hipotireoidismo congénito primário (ver este termo) no qual a glândula tireóidea está anatomicamente normal."},"pl":{"name":"Pierwotna wrodzona niedoczynność tarczycy bez anomalii rozwojowych tarczycy"},"cs":{"name":"Primární vrozená hypotyreóza bez tyreoidální vývojové anomálie"},"uk":{"name":"Первинний вроджений гіпотиреоз без аномалії розвитку щитоподібної залози","definition":"Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal."},"zh":{"name":"原发性先天性甲状腺功能减退症不伴甲状腺发育异常","definition":"不伴甲状腺发育异常的原发性先天性甲状腺功能减退症是一种甲状腺解剖正常的原发性先天性甲状腺功能减退症。"},"tr":{"name":"Tiroid gelişimsel anomalisi olmayan primer doğumsal hipotiroidi"}},"xrefs":[{"source":"UMLS","code":"C5681562","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":226295,"name":"Primary congenital hypothyroidism","classifications":[156,193]}],"children":[{"orpha":95716,"name":"Familial thyroid dyshormonogenesis","type":"Disease"},{"orpha":90673,"name":"Hypothyroidism due to TSH receptor mutations","type":"Disease"},{"orpha":95717,"name":"Idiopathic congenital hypothyroidism","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}