{"orpha":576242,"name":"Intermediate atrioventricular septal defect","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Intermediate AVSD","Intermediate atrioventricular canal defect","Transitional atrioventricular canal defect"],"definition":"A rare congenital non-syndromic heart malformation characterized by a common atrioventricular junction with a single atrioventricular valve ring, accompanied by an ostium primum type atrial septal defect and a small ventricular septal defect.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-576242/","orphanet_url":"https://www.orpha.net/en/disease/detail/576242","names":{"fr":{"name":"Canal atrioventriculaire intermédiaire","synonyms":["CAV intermédiaire","Communication atrioventriculaire intermédiaire","Communication auriculo-ventriculaire intermédiaire","Défaut septal atrioventriculaire transitionnel","Défaut septal atrioventriculaire intermédiaire","Défaut septal auriculo-ventriculaire intermédiaire"],"definition":"Malformation cardiaque congénitale non syndromique rare caractérisée par la présence d'une jonction atrioventriculaire commune et d'un anneau auriculo-ventriculaire unique, accompagnée d'une communication interauriculaire de type ostium primum et d'une petite communication interventriculaire."},"de":{"name":"Intermediärer atrioventrikulärer Septumdefekt","definition":"Eine seltene angeborene, nicht-syndromale Fehlbildung des Herzens, die durch eine gemeinsame atrioventrikuläre Verbindung mit einem einzigen atrioventrikulären Klappenring gekennzeichnet ist, begleitet von einem Vorhofseptumdefekt vom Typ Ostium primum und einem kleinen Ventrikelseptumdefekt."},"es":{"name":"Comunicación auriculoventricular intermedia","synonyms":["Defecto septal auriculoventricular intermedio"],"definition":"Es una malformación cardíaca congénita no sindrómica poco frecuente caracterizada por una unión auriculoventricular común con presencia de un solo anillo valvular auriculoventricular, acompañada de una comunicación interauricular tipo ostium primum y una comunicación interventricular pequeña."},"it":{"name":"Difetto intermedio del setto atrioventricolare","synonyms":["AVSD intermedio","Canale atrioventricolare intermedio","Canale atrioventricolare transizionale"]},"nl":{"name":"Intermediair atrioventriculair septumdefect","definition":"Een zeldzame congenitale niet-syndromale malformatie van hart, gekenmerkt door een gemeenschappelijke atrioventriculaire overgang met een atrioventriculaire klep met één enkele ring, vergezeld van een atriumseptumdefect van het type ostium primum en een klein ventrikelseptumdefect."},"pt":{"name":"Defeito septal auriculoventricular intermédio","definition":"Malformação cardíaca congénita rara, não sindromática, caracterizada por uma junção auriculoventricular comum com um único anel da válvula auriculoventricular, acompanhada por comunicação interauricular do tipo ostium primum e uma pequena comunicação interventricular."},"pl":{"name":"Ubytek przegrody przedsionkowo-komorowej średnio zaawansowany","synonyms":["Ubytek przegrody przedsionkowo-komorowej przejściowy"]},"cs":{"name":"Střední atrioventrikulární septální defekt","synonyms":["Intermediate AVSD","Intermediate atrioventricular canal defect","Transitional atrioventricular canal defect"]},"uk":{"name":"Помірно виражена атріовентрикулярна комінікація","synonyms":["Дефект проміжного атріовентрикулярного каналу","Проміжний AVSD","Перехідна вада атріовентрикулярного каналу"],"definition":"A rare congenital non-syndromic heart malformation characterized by a common atrioventricular junction with a single atrioventricular valve ring, accompanied by an ostium primum type atrial septal defect and a small ventricular septal defect."},"zh":{"name":"房室间隔缺损","synonyms":["过渡型房室管缺损"]},"tr":{"name":"Orta atriyoventriküler septal defekt","synonyms":["Orta düzey AVSD","Orta atriyoventriküler kanal defekti","Transisyonel atriyoventriküler kanal defekti"]}},"xrefs":[{"source":"ICD-10","code":"Q21.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA87.42","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"687321516"},{"source":"MONDO","code":"0035557","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4023291","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98722,"name":"Atrioventricular septal defect","classifications":[147,148,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}