{"orpha":95719,"name":"Thyroid hemiagenesis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95719/","orphanet_url":"https://www.orpha.net/en/disease/detail/95719","names":{"fr":{"name":"Hémiagénésie de la thyroïde","definition":"L'hémiagénésie de la thyroïde est une forme de dysgénésie thyroïdienne caractérisée par l'absence d'une moitié de la glande ; elle est en général asymptomatique, mais peut entraîner une hypothyroïdie congénitale primitive , c'est-à-dire une insuffisance permanente en hormones thyroïdiennes présente à la naissance."},"de":{"name":"Schilddrüsenhemiagenesie","definition":"Die Schilddrüsen-Hemiagenesie ist eine Form der Schilddrüsen-Dysgenesie (s. dort) und gekennzeichnet durch das Fehlen einer Hälfte der Schilddrüse, was meist keine Symptome verursacht, aber auch zu primärer kongenitaler Hypothyreose (s. dort) führen kann, einem von Geburt an bestehendem Mangel an Schildrüsenhormon."},"es":{"name":"Hemiagenesia tiroidea","definition":"Es una forma de disgenesia tiroidea caracterizada por la ausencia de la mitad de la glándula tiroides que suele ser asintomática pero que puede resultar en un hipotiroidismo primario congénito, un déficit permanente de hormonas tiroideas presente desde el nacimiento."},"it":{"name":"Emiagenesia tiroidea"},"nl":{"name":"Hemiagenesie van schildklier","definition":"Hemiagenesie van schildklier is een vorm van dysgenesie van schildklier, gekenmerkt door afwezigheid van de helft van de schildklier die meestal asymptomatisch is, maar kan resulteren in primaire congenitale hypothyreoïdie, een permanente deficiëntie van schildklierhormoon die aanwezig is vanaf de geboorte."},"pt":{"name":"Hemiagenesia da tiroide","definition":"A hemiagenesia da tiroide é uma forma de disgenesia da tiroide (ver este termo), caracterizada por uma ausência de metade da glândula da tiroide, que geralmente é assintomática, mas pode resultar em hipotiroidismo congénito primário (ver este termo), uma deficiência permanente da tiroide que está presente à nascença."},"pl":{"name":"Hemiagenezja tarczycy"},"cs":{"name":"Hemiageneze štítné žlázy"},"uk":{"name":"Тиреоїдний геміагенез","definition":"Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth."},"zh":{"name":"甲状腺偏侧缺如症","definition":"甲状腺半发育不全是甲状腺发育不全（见该词条）的一种类型，其特征是缺失一半的甲状腺，通常无症状，但可能导致原发性先天性甲状腺功能减退（见该词条），这是一种从出生就存在的永久性甲状腺缺陷。"},"tr":{"name":"Tiroid hemiagenezi"}},"xrefs":[{"source":"OMIM","code":"218700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E03.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"872920513"},{"source":"MONDO","code":"0019860","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4023190","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077609","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":95711,"name":"Congenital hypothyroidism due to developmental anomaly","classifications":[156,193]},{"orpha":95718,"name":"Congenital thyroid malformation without hypothyroidism","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"Worldwide","status":"Not yet validated","source":"19016002[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-16","source":"35371763[PMID]_28666345[PMID]","terms":[{"hpo":"HP:0011780","label":"Thyroid hemiagenesis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100786","label":"Hypersomnia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008191","label":"Thyroid agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032069","label":"Anti-thyroglobulin antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025379","label":"Anti-thyroid peroxidase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002925","label":"Elevated circulating thyroid-stimulating hormone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011788","label":"Increased circulating free T3","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000854","label":"Thyroid adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025388","label":"Thyroid nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100647","label":"Graves disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000843","label":"Hyperparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002895","label":"Papillary thyroid carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006731","label":"Follicular thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002865","label":"Medullary thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}