{"orpha":216729,"name":"Congenitally uncorrected transposition of the great arteries with cardiac malformation","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenitally uncorrected transposition of the great vessels with cardiac malformation","TGA with cardiac malformation"],"definition":null,"note":"This disease is described under Congenitally uncorrected transposition of the great arteries","url":"https://raremap.alftech.space/d/ORPHA-216729/","orphanet_url":"https://www.orpha.net/en/disease/detail/216729","names":{"fr":{"name":"Transposition congénitalement non corrigée des gros vaisseaux avec malformation cardiaque","synonyms":["TGV avec malformation cardiaque","Transposition congénitalement non corrigée des grosses artères avec malformation cardiaque"]},"de":{"name":"Kongenitale unkorrigierte Transposition der großen Arterien mit Herzfehlbildung","synonyms":["Kongenitale nicht korrigierte Transposition der großen Gefäße mit Herzfehlbildung","TGA mit Herzfehlbildung"]},"es":{"name":"Transposición de las grandes arterias congénitamente no corregida con malformación cardíaca","synonyms":["TGA con malformación cardíaca","Transposición de los grandes vasos congénitamente no corregida con malformación cardíaca"]},"it":{"name":"Trasposizione congenitamente non corretta delle grandi arterie con malformazione cardiaca","synonyms":["TGA con malformazione cardiaca","Trasposizione congenitamente non corretta dei grandi vasi con malformazione cardiaca"]},"nl":{"name":"Congenitaal niet-gecorrigeerde transpositie van grote slagaders met hartmalformatie","synonyms":["Congenitaal niet-gecorrigeerde transpositie van grote bloedvaten met hartmalformatie","TGA met hartmalformatie"]},"pt":{"name":"Transposição das grandes artérias com malformação cardíaca, não corrigida congenitamente"},"pl":{"name":"Wrodzone nieskorygowane przełożenie wielkich pni tętniczych z wadą serca","synonyms":["TGA z wadą serca","Wrodzone nieskorygowane przełożenie wielkich naczyń z wadą serca"]},"cs":{"name":"Vrozeně neopravená transpozice velkých tepen se srdeční malformací","synonyms":["Vrozeně neopravená transpozice velkých cév se srdeční malformací","TGA se srdeční malformací"]},"uk":{"name":"Вроджена некоригована танспозиція великих артерій (магістральних судин) з внутрішньосерцевими аномаліями","synonyms":["Вроджена некоригована транспозиція магістральних судин з серцевою вадою","ТГА з вадами серця"]},"zh":{"name":"先天未矫正型大动脉转位伴心脏畸形","synonyms":["TGA伴心脏畸形"]},"tr":{"name":"Kardiyak malformasyonu ile seyreden büyük arterlerin doğumsal düzeltilmemiş transpozisyonu","synonyms":["Kardiyak malformasyon ile seyreden büyük damarların doğumsal yanlış transpozisyonu","Kardiyak malformasyonlu TGA"]}},"xrefs":[{"source":"ICD-10","code":"Q20.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016303","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679811","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":860,"name":"Congenitally uncorrected transposition of the great arteries","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"CFC1","name":"cryptic, EGF-CFC family member 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11799476[PMID]","hgnc":"18292","ensembl":"ENSG00000136698","omim":"605194","loci":["2q21.1"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}