{"orpha":99042,"name":"Congenitally uncorrected transposition of the great arteries with coarctation","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenitally uncorrected transposition of the great vessels with coarctation","TGA with coarctation"],"definition":null,"note":"This disease is described under Congenitally uncorrected transposition of the great arteries","url":"https://raremap.alftech.space/d/ORPHA-99042/","orphanet_url":"https://www.orpha.net/en/disease/detail/99042","names":{"fr":{"name":"Transposition congénitalement non corrigée des gros vaisseaux avec coarctation","synonyms":["TGV avec coarctation","Transposition congénitalement non corrigée des grosses artères avec coarctation"]},"de":{"name":"Kongenitale unkorrigierte Transposition der großen Arterien mit Koarktation","synonyms":["Kongenitale nicht korrigierte Transposition der großen Gefäße mit Koarktation","TGA mit Koarktation"]},"es":{"name":"Transposición de las grandes arterias congénitamente no corregida con coartación","synonyms":["TGA con coartación","Transposición de los grandes vasos congénitamente no corregida con coartación"]},"it":{"name":"Trasposizione congenitamente non corretta delle grandi arterie con coartazione","synonyms":["TGA con coartazione","Trasposizione congenitamente non corretta dei grandi vasi con coartazione"]},"nl":{"name":"Congenitaal ongecorrigeerde transpositie van grote slagaders met coarctatie","synonyms":["Congenitaal ongecorrigeerde transpositie van grote bloedvaten met coarctatie","TGA met coarctatie"]},"pt":{"name":"Transposição de grandes vasos com coarctação"},"pl":{"name":"Wrodzona nieskorygowana transpozycja wielkich pni tętniczych z koarktacją","synonyms":["TGA z koarktacją","Wrodzona nieskorygowana transpozycja wielkich naczyń z koarktacją"]},"cs":{"name":"Vrozená nekorigovaná transpozice velkých arterií s koarktací","synonyms":["Vrozená nekorigovaná transpozice velkých cév s koarktací","TGA s koarktací"]},"uk":{"name":"Вроджена некорегована транспозиція великих артерій (магістральних судин) з коарктацією аорти","synonyms":["Вроджена невиправлена транспозиція магістральних судин з коарктацією","TGA з коагуляцією"]},"zh":{"name":"先天性未矫正的大动脉转位伴缩窄","synonyms":["大血管转位伴缩窄"]},"tr":{"name":"Doğumsal koarktasyon ilişkili büyük arterlerin yanlış transpozisyonu","synonyms":["Koarktasyonlu büyük damarların doğumsal düzeltilmemiş transpozisyonu","Koarktasyon ile seyreden TGA"]}},"xrefs":[{"source":"ICD-10","code":"Q20.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020385","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680321","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}