{"orpha":3405,"name":"Umbilical cord ulceration-intestinal atresia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3405/","orphanet_url":"https://www.orpha.net/en/disease/detail/3405","names":{"fr":{"name":"Syndrome d'ulcération du cordon ombilical-atrésie intestinale","definition":"Malformation intestinale syndromique rare caractérisée par une ulcération du cordon ombilical associée à une atrésie congénitale de l'intestin supérieur se manifestant typiquement par un saignement intra-utérin de l'ulcère et une bradycardie foetale subséquente."},"de":{"name":"Nabelschnur-Ulzera-Darmatresie-Syndrom","definition":"Eine seltene syndromale Darmfehlbildung, die durch Ulzerationen der Nabelschnur in Verbindung mit einer kongenitalen oberen Darmatresie gekennzeichnet ist und sich typischerweise mit intrauteriner Blutung aus der Ulkusstelle und anschließender fetaler Bradykardie präsentiert."},"es":{"name":"Síndrome de ulceración del cordón umbilical-atresia intestinal","definition":"Es una malformación intestinal sindrómica y poco frecuente caracterizada por la formación de úlceras en el cordón umbilical asociada a atresia congénita del intestino superior. El síndrome se presenta típicamente con hemorragia intrauterina procedente de la úlcera y posterior bradicardia fetal."},"it":{"name":"Ulcerazione del cordone ombelicale e atresia intestinale","definition":"È una malformazione rara sindromica dell'intestino, caratterizzata dalla presenza di ulcere nel cordone ombelicale, associata ad atresia congenita del segmento superiore dell'intestino, che di solito esordisce con emorragia prenatale a partire dall'ulcera e bradicardia fetale secondaria."},"nl":{"name":"Navelstrengulceratie - intestinale atresie-syndroom","definition":"Een zeldzame, syndromale, intestinale malformatie die gekarakteriseerd wordt door de vorming van een zweer in de navelstreng, geassocieerd met congenitale atresie van het bovenste deel van de darm, en die zich doorgaans presenteert met intra-uteriene hemorragie vanuit de plaats van de zweer en daaropvolgende foetale bradycardie."},"pt":{"name":"Síndrome de úlcera do cordão umbilical-atresia intestinal"},"pl":{"name":"Owrzodzenie pępowiny - atrezja jelit"},"cs":{"name":"Syndrom zahrnující ulcerace pupeční šňůry a intestinální atrézii"},"uk":{"name":"Синдром виразки пуповини-кишкової атрезії","definition":"A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia."},"zh":{"name":"脐带溃疡-肠道闭锁综合征"},"tr":{"name":"Göbek kordonu ülseri-intestinal atrezi sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q43.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"583948232"},{"source":"MONDO","code":"0018085","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536938","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304396","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5403","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108969,"name":"Syndromic intestinal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":66.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_20881370[PMID]_29516584[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-14","source":null,"terms":[{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001702","label":"Abnormal tricuspid valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011100","label":"Intestinal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null}]}}