{"orpha":104003,"name":"Congenital intestinal transport defect","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-104003/","orphanet_url":"https://www.orpha.net/en/disease/detail/104003","names":{"fr":{"name":"Anomalie congénitale du transport intestinal"},"de":{"name":"Intestinaler Transporter-Defekt, kongenitaler"},"es":{"name":"Defecto congénito en el transporte intestinal"},"it":{"name":"Difetto congenito del trasporto intestinale"},"nl":{"name":"Congenitaal intestinaal transportdefect"},"pt":{"name":"Deficiência no transporte intestinal, congénita"},"pl":{"name":"Wrodzony defekt transportu jelitowego"},"cs":{"name":"Vrozené defekty střevní pasáže"},"uk":{"name":"Вроджена вада кишкового транспорту"},"zh":{"name":"先天性肠转运缺陷"},"tr":{"name":"Doğumsal bağırsak taşıma defekti"}},"xrefs":[{"source":"ICD-11","code":"DA90.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"671778206"},{"source":"MONDO","code":"15178","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681747","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":165655,"name":"Genetic intestinal disease","classifications":[156]},{"orpha":506216,"name":"Rare disorder potentially indicated for bowel transplant","classifications":[233]},{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]}],"children":[{"orpha":53689,"name":"Congenital chloride diarrhea","type":"Disease"},{"orpha":103908,"name":"Congenital sodium diarrhea","type":"Disease"},{"orpha":35710,"name":"Glucose-galactose malabsorption","type":"Disease"},{"orpha":469,"name":"Hereditary fructose intolerance","type":"Disease"},{"orpha":563708,"name":"Syndromic congenital sodium diarrhea","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}