{"orpha":2300,"name":"Isolated multiple intestinal atresia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2300/","orphanet_url":"https://www.orpha.net/en/disease/detail/2300","names":{"fr":{"name":"Atrésies multiples isolées de l'intestin","synonyms":["Polyatrésie intestinale"],"definition":"L'atrésie multiple de l'intestin est une forme rare d'atrésie intestinale caractérisée par de nombreux segments atrésiques de l'intestin grêle, ( duodénum) ou du gros intestin et évoluant vers l'obstruction intestinale avec ballonnement, vomissement, et une incapacité pour le nouveau-né à évacuer le méconium."},"de":{"name":"Isolierte multiple intestinale Atresie","synonyms":["Polyatresie, intestinale"],"definition":"Die Multiple intestinale Atrsie ist eine seltene Form der Intestinalen Atresie und gekennzeichnet durch das Vorhandensein mehrerer atretischer Segmente des Dünndarms, Duodenums oder Dickdarms mit Darmverschluss-Symptomen: Erbrechen, aufgetriebenes Abdomen, bei Neugeborenen kein Abgang von Mekonium."},"es":{"name":"Atresia intestinal múltiple aislada","definition":"La atresia intestinal múltiple es una forma poco frecuente de atresia intestinal que se caracteriza por la presencia de numerosos segmentos atrésicos en el intestino delgado, el duodeno o el intestino grueso y que conduce a síntomas de una obstrucción intestinal: vómitos, distensión abdominal e incapacidad para expulsar el meconio en recién nacidos."},"it":{"name":"Atresia intestinale multipla isolata","definition":"L'atresia intestinale multipla è una forma rara di atresia intestinale, caratterizzata dalla presenza di numerosi segmenti atresici nell'intestino tenue, nel duodeno o nell'intestino crasso, che provoca i sintomi dell'ostruzione intestinale: vomito, distensione addominale, incapacità di espellere il meconio nei neonati."},"nl":{"name":"Geïsoleerde multipele intestinale atresie","synonyms":["Geïsoleerde meervoudige darmatresie"],"definition":"Een zeldzame vorm van intestinale atresie, gekarakteriseerd door de aanwezigheid van talrijke atretische segmenten in de dunne darm (duodenum) of dikke darm, wat leidt tot symptomen van intestinale obstructie: braken, gezwollen abdomen, en bij neonaten geen passage van meconium."},"pt":{"name":"Atresia intestinal múltipla","synonyms":["Síndrome de poliatresia intestinal familiar"]},"pl":{"name":"Izolowana wieloodcinkowa atrezja jelit","synonyms":["Zespół rodzinnej wieloodcinkowej atrezji jelit","Wieloodcinkowa atrezja jelit"]},"cs":{"name":"Mnohočetné střevní atrézie","synonyms":["Syndrom familiární střevní polyatrézie"]},"uk":{"name":"Множинна атрезія кишечника","synonyms":["Синдром сімейної кишкової поліатрезії"],"definition":"Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns."},"zh":{"name":"多发性肠闭锁","synonyms":["家族性肠息肉综合征"]},"tr":{"name":"Çoklu bağırsak atrezi","synonyms":["Ailesel bağırsak poliatrezi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q41.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB15.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1174006018"},{"source":"MONDO","code":"0009465","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562441","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220744","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3013","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10028210","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108967,"name":"Non-syndromic intestinal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"29437734[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.05,"area":"Worldwide","status":"Validated","source":"29437734[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100867","label":"Duodenal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002589","label":"Gastrointestinal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null}]}}