{"orpha":226298,"name":"Central congenital hypothyroidism","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Secondary hypothyroidism"],"definition":"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-226298/","orphanet_url":"https://www.orpha.net/en/disease/detail/226298","names":{"fr":{"name":"Hypothyroïdie congénitale centrale","synonyms":["Hypothyroïdie secondaire"],"definition":"L'hypothyroïdie congénitale centrale - ou secondaire - est une forme d'hypothyroïdie congénitale permanente caractérisée par un déficit permanent en hormones thyroïdiennes, présent dès la naissance et secondaire à une anomalie du système TSH-TRH (<i>thyroid-stimulating hormone - thyrotropin-releasing hormone</i>)."},"de":{"name":"Hypothyreose, kongenitale zentrale","definition":"Die zentrale oder sekundäre kongenitale Hypothyreose ist ein Typ der permanenten kongenitalen Hypothyreose (s. dort) und gekennzeichnet durch von Geburt an bestehenden permanenten Mangel an Schilddrüsenhormon, der sekundär, als Folge einer Störung im System des Thyreotropin (TSH)-Releasing-Hormons (TRH) auftritt."},"es":{"name":"Hipotiroidismo congénito central","definition":"El hipotiroidismo congénito secundario o central es un tipo de hipotiroidismo congénito permanente caracterizado por un déficit de hormonas tiroideas presente desde el nacimiento, consecuencia de un trastorno en el sistema hormona estimulante del tiroides (TSH) &#8211; hormona liberadora de tirotropina (TRH)."},"it":{"name":"Ipotiroidismo centrale congenito","synonyms":["Ipotiroidismo secondario"],"definition":"L'ipotiroidismo centrale o secondario è una forma di ipotiroidismo congenito (si veda questo termine) caratterizzato dal deficit permanente dell'ormone tiroideo già presente alla nascita, causato da un'anomalia dell'ormone stimolante la tiroide (TSH) - sistema di rilascio della tireotropina (TRH)."},"nl":{"name":"Centrale congenitale hypothyreoïdie","synonyms":["Secundaire hypothyreoïdie"],"definition":"Een type van permanente congenitale hypothyreoïdie, gekenmerkt door permanente deficiëntie van schildklierhormoon die aanwezig is vanaf de geboorte en secundair is aan een stoornis van het systeem van thyroïdstimulerend hormoon (TSH) - thyrotropinevrijmakend hormoon (TRH)."},"pt":{"name":"Hipotiroidismo central","definition":"O hipotireoidismo congénito secundário ou central é um tipo hipotireoidismo congénito permanente (ver este termo) caracterizado por deficiência permanente da hormona tireóidea que está presente desde o nascimento e é secundário à desordem no sistema hormonal estimulador da tireóide (TSH) - hormona liberadora de tirotropina (TRH)."},"pl":{"name":"Ośrodkowa wrodzona niedoczynność tarczycy","synonyms":["Wtórna niedoczynność tarczycy"]},"cs":{"name":"Centrální vrozená hypotyreóza","synonyms":["Sekundární hypotyreóza"]},"uk":{"name":"Центральний вроджений гіпотиреоз","synonyms":["Вторинний гіпотиреоз"],"definition":"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system."},"zh":{"name":"中枢性先天性甲状腺功能减退症","synonyms":["继发性甲状腺功能减退症"],"definition":"中枢性或继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），其特征是从出生起就存在的永久性甲状腺激素缺乏症，继发于促甲状腺激素（TSH）-促甲状腺素释放激素（TRH）系统紊乱。"},"tr":{"name":"Santral doğumsal hipotiroidi","synonyms":["Sekonder hipotiroidi"]}},"xrefs":[{"source":"ICD-11","code":"5A61.41","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"848364569"},{"source":"MONDO","code":"0016410","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16410","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3665349","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12280","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":226307,"name":"Hypothyroidism due to deficient transcription factors involved in pituitary development or function","type":"Disease"},{"orpha":90674,"name":"Isolated thyroid-stimulating hormone deficiency","type":"Disease"},{"orpha":238670,"name":"Isolated thyrotropin-releasing hormone deficiency","type":"Disease"},{"orpha":99832,"name":"Resistance to thyrotropin-releasing hormone syndrome","type":"Disease"},{"orpha":329235,"name":"X-linked central congenital hypothyroidism with late-onset testicular enlargement","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}