{"orpha":226295,"name":"Primary congenital hypothyroidism","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-226295/","orphanet_url":"https://www.orpha.net/en/disease/detail/226295","names":{"fr":{"name":"Hypothyroïdie congénitale primitive","synonyms":["HC"],"definition":"L'hypothyroïdie congénitale primitive (HC primitive) est une forme d'hypothyroïdie congénitale permanente (HC), une insuffisance permanente en hormones thyroïdiennes présente à la naissance."},"de":{"name":"Hypothyreose, kongenitale primäre","definition":"Die primäre kongenitale Hypothyreose ist ein Typ der permanenten kongenitalen Hypothyreose (s. dort), einem von Geburt an bestehendem Mangel an Schilddrüsenhormon."},"es":{"name":"Hipotiroidismo primario congénito","definition":"El hipotiroidismo congénito primario es un tipo de hipotiroidismo congénito permanente (consulte este término), un déficit permanente de hormonas tiroideas presente desde el nacimiento."},"it":{"name":"Ipotiroidismo primitivo congenito","definition":"L'ipotiroidismo primitivo congenito è un tipo di ipotiroidismo permanente congenito (si veda questo termine), un deficit permanente dell'ormone tiroideo presente alla nascita."},"nl":{"name":"Primaire congenitale hypothyreoïdie","definition":"Primaire congenitale hypothyreoïdie is een type van permanente congenitale hypothyreoïdie, een permanente deficiëntie van schildklierhormoon die aanwezig is van bij de geboorte."},"pt":{"name":"Hipotiroidismo primário congénito","definition":"O hipotireoidismo primário congénito é um tipo de hipotireoidismo congénito permanente (ver este termo), uma deficiência permanente da hormona tireóidea que está presente ao nascimento."},"pl":{"name":"Pierwotna wrodzona niedoczynność tarczycy"},"cs":{"name":"Primární vrozená hypotyreóza"},"uk":{"name":"Первинний вроджений гіпотиреоз","definition":"Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth."},"zh":{"name":"原发性先天性甲状腺功能减退症","definition":"原发性先天性甲状腺功能减退症是一种永久性先天性甲状腺功能减退症（见该词条），一种从出生就存在的永久性甲状腺激素缺乏症。"},"tr":{"name":"Primer doğumsal hipotiroidi"}},"xrefs":[{"source":"MONDO","code":"16409","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3715197","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":226292,"name":"Permanent congenital hypothyroidism","classifications":[156,193]}],"children":[{"orpha":95711,"name":"Congenital hypothyroidism due to developmental anomaly","type":"Category"},{"orpha":95714,"name":"Primary congenital hypothyroidism without thyroid developmental anomaly","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":37.5,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":58.62,"area":"United States","status":"Validated","source":"22766612[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":33.0,"area":"Finland","status":"Validated","source":"35661828[PMID]"}],"phenotypes":null}