{"orpha":1201,"name":"Small bowel atresia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Atresia of small bowel","Atresia of small intestine","Jejunal atresia","Jejunoileal atresia","SBA","Small intestinal atresia"],"definition":"A rare, congenital defect of the small intestine characterized by disruption in the normal small intestine continuity, resulting in intestinal obstruction. The malformation may be classified in four different types of small bowel atresia (SBA) based on the anatomical obstruction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1201/","orphanet_url":"https://www.orpha.net/en/disease/detail/1201","names":{"fr":{"name":"Atrésie de l'intestin grêle","synonyms":["Atrésie du jéjunum","Atrésie intestinale iléale","Atrésie jéjunale","Atrésie jéjuno-iléale"],"definition":"Malformation congénitale rare de l'intestin grêle, caractérisée par une discontinuité de l'intestin grêle, entraînant une obstruction intestinale. En fonction du type anatomique d'obstruction, la malformation peut être classée en quatre types d'atrésie de l'intestin grêle (AIG)."},"de":{"name":"Dünndarmatresie","synonyms":["Apfelschalen-Syndrom","Dünndarmatresie Typ IIIb","Jejunalatresie","Jejunoileale Atresie","SBA"],"definition":"Ein angeborener Defekt des Dünndarms, der durch eine Unterbrechung der normalen Dünndarmkontinuität gekennzeichnet ist und zu einem Darmverschluss führt. Die Fehlbildung kann auf der Grundlage der anatomischen Obstruktion in vier verschiedene Arten von Dünndarmatresie (SBA) unterteilt werden."},"es":{"name":"Atresia de intestino delgado","synonyms":["Atresia yeyunal","Atresia yeyunoileal"],"definition":"Es un defecto congénito poco frecuente del intestino delgado caracterizado por la interrupción de su continuidad normal, lo que resulta en obstrucción intestinal. La malformación se puede clasificar en cuatro tipos diferentes de atresia del intestino delgado (SBA; por sus siglas en inglés) según la obstrucción anatómica."},"it":{"name":"Atresia dell'intestino tenue","synonyms":["SBA","Sindrome \"apple peel\"","Sindrome \"buccia di mela\"","Atresia del digiuno","Atresia del piccolo intestino","Atresia dell’intestino tenue","Atresia digiuno-ileale"],"definition":"L'atresia dell'intestino tenue (SBA) è un difetto congenito raro dell'intestino tenue, caratterizzato da un'interruzione della sua continuità, con conseguente ostruzione intestinale. La malformazione viene classificata in quattro tipi in base all'ostruzione anatomica."},"nl":{"name":"Atresie van dunne darm","synonyms":["Atresie van intestinum tenue","Atresie van jejunum","Atresie van nuchtere darm","Jejuno-ileale atresie","Jejunumatresie","SBA"],"definition":"Een zeldzaam, congenitaal defect van dunne darm, gekenmerkt door disruptie van de normale continuïteit van dunne darm, met darmobstructie tot gevolg. Op basis van anatomische obstructie kan de malformatie geclassificeerd worden in vier verschillende types van dunnedarmatresie (SBA)."},"pt":{"name":"Atresia do intestino delgado","synonyms":["Atresia do jejuno","Atresia jejuno-ileal","SBA"],"definition":"Defeito congénito raro do intestino delgado caracterizado por interrupção na continuidade normal do mesmo, resultando numa obstrução intestinal. A malformação pode ser classificada em quatro tipos diferentes de atresia do intestino delgado com base na obstrução anatómica."},"pl":{"name":"Atrezja jelita cienkiego","synonyms":["Atrezja jelita czczego","Zespół \"ogryzka jabłka","Atrezja jelita czczego i esicy","Atrezja jelita typu IIIb"]},"cs":{"name":"Atrézie tenkého střeva","synonyms":["Atrézie jejuna","Atrézie jejuna a ilea","Atrézie intestinální","Syndrom jablečné slupky","Střevní atrézie, typ IIIb"]},"uk":{"name":"Атрезія тонкої кишки","synonyms":["Атрезія тонкої кишки","Атрезія тонкої кишки","Атрезія худої кишки","Атрезія яєчників","SBA","Атрезія тонкої кишки"],"definition":"A rare, congenital defect of the small intestine characterized by disruption in the normal small intestine continuity, resulting in intestinal obstruction. The malformation may be classified in four different types of small bowel atresia (SBA) based on the anatomical obstruction."},"zh":{"name":"小肠闭锁","synonyms":["肠闭锁IIIb型"]},"tr":{"name":"İnce bağırsak atrezisi","synonyms":["Jejunal atrezi","Elma kabuğu sendromu","Jejunoileal atrezi","İnce bağırsak atrezisi","Bağırsak atrezisi tip IIIb"]}},"xrefs":[{"source":"OMIM","code":"243600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q41.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q41.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q41.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q41.8","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q41.9","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB15.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1949256262"},{"source":"MONDO","code":"0009476","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538260","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266172","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"140","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010626","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]},{"orpha":365563,"name":"Primary short bowel syndrome","classifications":[152,156,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable","Unknown"],"onset":["Antenatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.0,"area":"Europe","status":"Validated","source":"229330959[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.0,"area":"Spain","status":"Validated","source":"2293309[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.0,"area":"Ireland","status":"Validated","source":"2293309[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Portugal","status":"Validated","source":"2293309[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.5,"area":"Italy","status":"Validated","source":"2293309[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":22.0,"area":"Reunion","status":"Validated","source":"2293309[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.0,"area":"Switzerland","status":"Validated","source":"2293309[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Austria","status":"Validated","source":"2293309[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.0,"area":"Germany","status":"Validated","source":"2293309[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":19.0,"area":"Denmark","status":"Validated","source":"2293309[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.0,"area":"Malta","status":"Validated","source":"2293309[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.0,"area":"France","status":"Validated","source":"2293309[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.0,"area":"United Kingdom","status":"Validated","source":"2293309[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":15.0,"area":"Belgium","status":"Validated","source":"2293309[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-08","source":"10594884[PMID]_5681166[PMID]_5907010[PMID]","terms":[{"hpo":"HP:0005245","label":"Intestinal hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025015","label":"Abnormal vascular morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005235","label":"Jejunal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null}]}}