{"orpha":95711,"name":"Congenital hypothyroidism due to developmental anomaly","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Primary congenital hypothyroidism due to developmental anomaly"],"definition":"Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95711/","orphanet_url":"https://www.orpha.net/en/disease/detail/95711","names":{"fr":{"name":"Hypothyroïdie congénitale par anomalie de développement de la thyroïde","synonyms":["Hypothyroïdie congénitale primitive par anomalie de développement de la thyroïde"],"definition":"La dysgénésie thyroïdienne est une forme d'hypothyroïdie congénitale (HC) primitive , une insuffisance permanente en hormones thyroïdiennes présente à la naissance de cause thyroïdienne."},"de":{"name":"Kongenitale Hypothyreose durch Entwicklungsanomalie","definition":"Die Schilddrüsen-Dysgenesie ist ein Typ von primärer kongenitaler Hypothyreose mit von Geburt an bestehendem, permanenten Mangel an Schilddrüsenhormon."},"es":{"name":"Hipotiroidismo congénito por anomalía del desarrollo","synonyms":["Hipotiroidismo congénito primario por anomalía del desarrollo"],"definition":"La disgenesia tiroidea es un tipo de hipotiroidismo primario congénito, un déficit permanente de hormonas tiroideas presente desde el nacimiento."},"it":{"name":"Ipotiroidismo congenito da anomalia dello sviluppo","synonyms":["Ipotiroidismo congenito primitivo da anomalia dello sviluppo"]},"nl":{"name":"Congenitale hypothyreoïdie door ontwikkelingsanomalie","synonyms":["Pimaire congenitale hypothyreoïdie door ontwikkelingsanomalie"],"definition":"Dysgenesie van schildklier is een type van primaire congenitale hypothyreoïdie, een permanente deficiëntie van schildklierhormoon die aanwezig is van bij de geboorte."},"pt":{"name":"Hipotiroidismo congénito por anomalia do desenvolvimento","synonyms":["Hipotiroidismo congénito primário por anomalia do desenvolvimento"]},"pl":{"name":"Wrodzona niedoczynność tarczycy spowodowana anomalią rozwojową","synonyms":["Wrodzona niedoczynność tarczycy spowodowana anomalią rozwojową"]},"cs":{"name":"Vrozená hypotyreóza způsobená vývojovou anomálií","synonyms":["Primární vrozená hypotyreóza způsobená vývojovou anomálií"]},"uk":{"name":"Вроджений гіпотиреоз внаслідок аномалії розвитку","synonyms":["Первинний вроджений гіпотиреоз внаслідок аномалії розвитку"],"definition":"Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth."},"zh":{"name":"发育异常所致先天性甲状腺功能减退症","synonyms":["发育异常所致原发性先天性甲状腺功能减退症"],"definition":"甲状腺发育不良是一种原发性先天性甲状腺功能减退症（见该词条），是一种从出生就存在的永久性甲状腺激素缺乏症。"},"tr":{"name":"Gelişimsel anomaliye bağlı doğumsal hipotiroidi","synonyms":["Gelişimsel anomaliye bağlı primer doğumsal hipotiroidi"]}},"xrefs":[{"source":"ICD-10","code":"E03.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"UMLS","code":"C5680255","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":95713,"name":"Athyreosis","type":"Morphological anomaly"},{"orpha":95712,"name":"Thyroid ectopia","type":"Morphological anomaly"},{"orpha":95719,"name":"Thyroid hemiagenesis","type":"Morphological anomaly"},{"orpha":95720,"name":"Thyroid hypoplasia","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":21.3,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}