{"orpha":226292,"name":"Permanent congenital hypothyroidism","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-226292/","orphanet_url":"https://www.orpha.net/en/disease/detail/226292","names":{"fr":{"name":"Hypothyroïdie congénitale permanente","definition":"Forme d'hypothyroïdie congénitale (HC), une insuffisance en hormones thyroïdiennes présente à la naissance."},"de":{"name":"Hypothyreose, kongenitale permanente","definition":"Die permanente kongenitale Hypothyreose ist ein Typ der kongenitalen Hypothyreosee (CH; s. dort), ein von Geburt an bestehender Mangel von Schilddrüsenhormon."},"es":{"name":"Hipotiroidismo congénito permanente","definition":"El hipotiroidismo congénito permanente es un tipo de hipotiroidismo congénito (CH), un déficit de hormonas tiroideas presente desde el nacimiento."},"it":{"name":"Ipotiroidismo congenito permanente","definition":"L'ipotiroidismo permanente congenito è una forma di ipotiroidismo congenito (IC; si veda questo termine), un difetto dell'ormone tiroideo presente alla nascita."},"nl":{"name":"Permanente congenitale hypothyreoïdie","definition":"Permanente congenitale hypothyreoïdie is een type van congenitale hypothyreoïdie (CH), een deficiëntie van schildklierhormoon die aanwezig is van bij de geboorte."},"pt":{"name":"Hipotiroidismo congénito permanente","definition":"O hipotireoidismo congénito permanente é um tipo de hipotireoidismo congénito (HC; ver este termo), ou seja, uma deficiência da hormona tireóidea presente por ocasião do nascimento."},"pl":{"name":"Całkowita wrodzona niedoczynność tarczycy"},"cs":{"name":"Permanentní vrozená hypotyreóza"},"uk":{"name":"Постійний вроджений гіпотиреоз","definition":"Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth."},"zh":{"name":"永久性先天性甲状腺功能减退症","definition":"永久性先天性甲状腺功能减退症是一种先天性甲状腺功能减退症（CH；见该词条），一种从出生就存在的甲状腺激素缺乏症。"},"tr":{"name":"Kalıcı doğumsal hipotiroidi"}},"xrefs":[{"source":"ICD-11","code":"5A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"801729371"},{"source":"MONDO","code":"0016408","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16408","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680893","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":226310,"name":"OBSOLETE: Peripheral hypothyroidism","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":442,"name":"Congenital hypothyroidism","classifications":[156,193]},{"orpha":156643,"name":"Genetic endocrine growth disease","classifications":[156]}],"children":[{"orpha":226298,"name":"Central congenital hypothyroidism","type":"Clinical group"},{"orpha":226295,"name":"Primary congenital hypothyroidism","type":"Clinical group"},{"orpha":177107,"name":"Syndromic hypothyroidism","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":33.3,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}