{"orpha":93953,"name":"Familial thyroglossal duct cyst","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93953/","orphanet_url":"https://www.orpha.net/en/disease/detail/93953","names":{"fr":{"name":"Kyste familial du conduit thyréoglosse","definition":"Forme héréditaire très rare de kyste du conduit thyréoglosse, caractérisée par une masse d'un diamètre allant jusqu'à 3&nbsp;cm, située sur la ligne médiane du cou."},"de":{"name":"Fistel, familiäre thyroglossale"},"es":{"name":"Quiste del conducto tirogloso familiar","definition":"Es una forma hereditaria de quiste del conducto tirogloso (QCT) muy poco frecuente caracterizada por una masa de hasta 3 cm de diámetro localizada en la línea media del cuello."},"it":{"name":"Cisti del condotto tireoglosso, forma familiare"},"nl":{"name":"Familale ductus thyreoglossuscyste","synonyms":["Familiale mediane halscyste","Familiale schildklierkanaalcyste"],"definition":"Een zeer zeldzame, erfelijke vorm van TDC, gekarakteriseerd door een massa met een diameter van 3 cm of minder ter hoogte van de middellijn van de hals."},"pt":{"name":"Quisto do canal tireoglosso, familiar"},"pl":{"name":"Rodzinna torbiel przewodu tarczowo-językowego"},"cs":{"name":"Familiární cysta ductus thyreoglossus"},"uk":{"name":"Сімейна кіста вивідної протоки щитоподібної залози","definition":"A very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck."},"zh":{"name":"家族性甲状舌管囊肿","definition":"TDC的一种非常罕见的遗传性类型，特征是颈部中线区域直径小于等于3厘米的肿块。"},"tr":{"name":"Ailesel tiroglossal kanal kisti"}},"xrefs":[{"source":"OMIM","code":"188455","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q89.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA05.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008565","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536909","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3495590","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5204","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":95718,"name":"Congenital thyroid malformation without hypothyroidism","classifications":[193]},{"orpha":155835,"name":"Cysts and fistulae of the face and oral cavity","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"16012840[PMID]_19344886[PMID]_17457484[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16012840[PMID]_19344886[PMID]_17457484[PMID]"}],"phenotypes":null}