{"orpha":442,"name":"Congenital hypothyroidism","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-442/","orphanet_url":"https://www.orpha.net/en/disease/detail/442","names":{"fr":{"name":"Hypothyroïdie congénitale","definition":"L'hypothyroïdie congénitale (HC) est une insuffisance en hormones thyroïdiennes présente à la naissance."},"de":{"name":"Hypothyreose, kongenitale","definition":"Die Kongenitale Hypothyreose (CH) ist definiert als ein von Geburt an bestehender Schilddrüsenhormon-Mangel."},"es":{"name":"Hipotiroidismo congénito","definition":"El hipotiroidismo congénito (HC) se define como el déficit de hormonas tiroideas presente desde el nacimiento."},"it":{"name":"Ipotiroidismo congenito"},"nl":{"name":"Congenitale hypothyreoïdie","definition":"Congenitale hypothyreoïdie (CH) wordt gedefinieerd als een deficiëntie van schildklierhormoon die aanwezig is vanaf de geboorte."},"pt":{"name":"Hipotiroidismo congénito","definition":"O hipotiroidismo congénito (HC) é definido como uma deficiência de hormona tireóidea presente ao nascimento."},"pl":{"name":"Wrodzona niedoczynność tarczycy"},"cs":{"name":"Vrozená hypotyreóza","synonyms":["Kretenismus"]},"uk":{"name":"Вроджений гіпотиреоз","definition":"Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth."},"zh":{"name":"先天性甲状腺功能减退症"},"tr":{"name":"Doğumsal hipotiroidi"}},"xrefs":[{"source":"ICD-11","code":"5A00.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"602450215"},{"source":"MONDO","code":"0018612","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18612","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003409","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0010308","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1487","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010510","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":90692,"name":"Rare endocrine growth disease","classifications":[193]},{"orpha":181396,"name":"Rare hypothyroidism","classifications":[156,193]}],"children":[{"orpha":226316,"name":"Genetic transient congenital hypothyroidism","type":"Disease"},{"orpha":226292,"name":"Permanent congenital hypothyroidism","type":"Category"},{"orpha":178045,"name":"Transient congenital hypothyroidism","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":38.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"France","status":"Validated","source":"15807875[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"France","status":"Not yet validated","source":"15807875[PMID]"},{"type":"Prevalence at 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000","value":29.4,"area":"Denmark","status":"Validated","source":"9782755[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"Poland","status":"Validated","source":"12762638[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Poland","status":"Not yet validated","source":"12762638[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":35.0,"area":"Estonia","status":"Validated","source":"9575454[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Estonia","status":"Not yet validated","source":"9575454[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":54.8,"area":"Lebanon","status":"Validated","source":"17146215[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":150.0,"area":"Iran, Islamic Republic of","status":"Validated","source":"23060475[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":73.35,"area":"Brazil","status":"Not yet validated","source":"23033178[PMID]_22911283[PMID]_ ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":43.0,"area":"Turkey","status":"Validated","source":"15857333[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Turkey","status":"Not yet validated","source":"15857333[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":35.4,"area":"Australia","status":"Validated","source":"12031004[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Australia","status":"Not yet validated","source":"12031004[PMID]"},{"type":"Prevalence at 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validated","source":"18782254[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":25.3,"area":"Bosnia and Herzegovina","status":"Validated","source":"18668261[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Bosnia and Herzegovina","status":"Not yet validated","source":"18668261[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":33.7,"area":"Bahrain","status":"Validated","source":"20432804[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Bahrain","status":"Not yet validated","source":"20432804[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":36.0,"area":"New Zealand","status":"Validated","source":"22723332[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"New 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