{"orpha":95715,"name":"Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95715/","orphanet_url":"https://www.orpha.net/en/disease/detail/95715","names":{"fr":{"name":"Hypothyroïdie congénitale par passage transplacentaire d'anticorps anti-récepteur de la TSH","definition":"L'hypothyroïdie congénitale (HC) par passage transplacentaire d'anticorps maternels anti-récepteur de la TSH (<i>thyroid-stimulating hormone</i>) est une forme d'HC transitoire , le déficit en hormone thyroïdienne n'étant pas permanent."},"de":{"name":"Hypothyreose, kongenitale, durch transplazentare Passage von maternalen TSH-bindenden inhibitorischen Antikörpern","definition":"Die kongenitale Hypothyreose durch transplazentare Passage mütterlicher inhibitorischer Thyreotropin (TSH)-Antikörper ist ein Typ von transienter kongenitaler Hypothyreose (s. dort), einem nicht permanentem Mangel an Schilddrüsenhormon."},"es":{"name":"Hipotiroidismo congénito por el paso transplacentario de anticuerpos maternos inhibidores de la unión a TSH","definition":"Es un tipo de hipotiroidismo congénito transitorio, un déficit de hormonas tiroideas que no es permanente."},"it":{"name":"Ipotiroidismo congenito dovuto al passaggio transplacentare degli anticorpi materni anti-TSH"},"nl":{"name":"Congenitale hypothyreoïdie door transplacentale passage van TSH-bindende inhiberende antilichamen","definition":"Een type van transiënte congenitale hypothyreoïdie, een deficiëntie van schildklierhormoon die niet permanent is."},"pt":{"name":"Hipotiroidismo congénito devido à passagem através da placenta de anticorpos maternos inibidores da ligação à TSH","definition":"O hipotiroidismo congénito, devido à passagem transplacentar de anticorpos maternos que inibem a ligação de TSH é um tipo de hipotiroidismo congénito transitório (ver este termo), uma deficiência da hormona da tiroide que não é permanente."},"pl":{"name":"Wrodzona niedoczynność tarczycy spowodowana przenikaniem przez łożysko przeciwciał wiążących TSH"},"cs":{"name":"Vrozená hypotyreóza způsobená transplacentárně přenesenými mateřskými protilátkami inhibujícími TSH receptor"},"uk":{"name":"Вроджений гіпотиреоз внаслідок трансплацентарної передачі ТТГ-звязуючих інгібіторних антитіл","definition":"Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism (see this term), a thyroid hormone deficiency that is not permanent."},"zh":{"name":"TSH结合抑制抗体经胎盘所致先天性甲状腺功能减退症","definition":"母体促甲状腺激素（TSH）结合抑制性抗体通过胎盘所致先天性甲状腺功能减退，是一种暂时性的先天性甲状腺功能减退（见该词条），是一种非永久性的甲状腺激素缺乏症。"},"tr":{"name":"TSH bağlayıcı inhibitör antikorların transplasental geçişine bağlı doğumsal hipotiroidi"}},"xrefs":[{"source":"ICD-10","code":"P72.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KB62.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019857","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19857","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273914","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":238696,"name":"Transient congenital hypothyroidism due to maternal factor","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-25","source":"25905261[PMID]_11577986[PMID]_20537182[PMID]_31894081[PMID]","terms":[{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011437","label":"Maternal autoimmune disease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002926","label":"Abnormality of thyroid physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031507","label":"Decreased circulating thyroxine level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031098","label":"Decreased thyroid-stimulating hormone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100786","label":"Hypersomnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031219","label":"Reduced radioactive iodine uptake","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025483","label":"Abnormal circulating thyroglobulin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025379","label":"Anti-thyroid peroxidase antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002908","label":"Conjugated hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500011","label":"Moon facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Excluded (0%)","criteria":null}]}}