{"orpha":108969,"name":"Syndromic intestinal malformation","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-108969/","orphanet_url":"https://www.orpha.net/en/disease/detail/108969","names":{"fr":{"name":"Malformation intestinale syndromique"},"de":{"name":"Intestinale Fehlbildungen, syndromale"},"es":{"name":"Malformación intestinal sindrómica"},"it":{"name":"Malformazione intestinale sindromica"},"nl":{"name":"Syndromale intestinale malformatie"},"pt":{"name":"Malformação intestinal sindrómica"},"pl":{"name":"Syndromiczna malformacja jelit"},"cs":{"name":"Syndromické intestinální malformace"},"uk":{"name":"Синдромальна кишкова вада розвитку"},"zh":{"name":"综合征性肠畸形"},"tr":{"name":"Sendromik bağırsak malformasyonu"}},"xrefs":[{"source":"MONDO","code":"15212","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681760","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19860","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97945,"name":"Intestinal malformation","classifications":[147,156,182,233]}],"children":[{"orpha":436252,"name":"Combined immunodeficiency-multiple intestinal atresia","type":"Disease"},{"orpha":527468,"name":"Diaphragmatic hernia-short bowel-asplenia syndrome","type":"Malformation syndrome"},{"orpha":293864,"name":"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome","type":"Malformation syndrome"},{"orpha":2464,"name":"Marfanoid syndrome, De Silva type","type":"Malformation syndrome"},{"orpha":557866,"name":"Rare disorder with Hirschsprung disease as a major feature","type":"Category"},{"orpha":506307,"name":"Stromme syndrome","type":"Malformation syndrome"},{"orpha":1759,"name":"Thoraco-abdominal enteric duplication","type":"Malformation syndrome"},{"orpha":3405,"name":"Umbilical cord ulceration-intestinal atresia syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}