{"orpha":1203,"name":"Duodenal atresia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, non-syndromic intestinal malformation characterized by a complete but short segment obliteration of the duodenal lumen.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1203/","orphanet_url":"https://www.orpha.net/en/disease/detail/1203","names":{"fr":{"name":"Atrésie du duodénum","synonyms":["Atrésie duodénale"],"definition":"Malformation intestinale rare, non syndromique, caractérisée par une obstruction complète d'un court segment de la lumière duodénale."},"de":{"name":"Duodenalatresie","definition":"Eine nicht-syndromale Fehlbildung des Darms, die durch eine vollständige, aber kurzsegmentige Obliteration des Duodenallumens gekennzeichnet ist."},"es":{"name":"Atresia duodenal","definition":"Es una malformación intestinal poco frecuente, no sindrómica, caracterizada por la obliteración total, aunque en segmentos cortos, de la luz intestinal."},"it":{"name":"Atresia duodenale","definition":"Si tratta di una malformazione rara e non sindromica dell'intestino, caratterizzata da un'obliterazione completa di un breve segmento del lume duodenale."},"nl":{"name":"Duodenumatresie","definition":"Een zeldzame niet-syndromale malformatie van darm, gekenmerkt door volledige obliteratie van lumen van duodenum in een kort segment."},"pt":{"name":"Atresia duodenal"},"pl":{"name":"Atrezja dwunastnicy"},"cs":{"name":"Atrézie duodena"},"uk":{"name":"Атрезія дванадцятипалої кишки","definition":"A rare, non-syndromic intestinal malformation characterized by a complete but short segment obliteration of the duodenal lumen."},"zh":{"name":"十二指肠闭锁"},"tr":{"name":"Duodenal atrezi"}},"xrefs":[{"source":"OMIM","code":"223400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q41.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB14","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"295550633"},{"source":"MONDO","code":"0009126","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535720","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266174","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"54","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10013812","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108963,"name":"Non-syndromic gastroduodenal malformation","classifications":[147,156,182]},{"orpha":108967,"name":"Non-syndromic intestinal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.0,"area":"Europe","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.0,"area":"Europe","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.0,"area":"Belgium","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Belgium","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Spain","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Spain","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Ireland","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Ireland","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"Italy","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Italy","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.0,"area":"United Kingdom","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"United Kingdom","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Malta","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Malta","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.0,"area":"Denmark","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Denmark","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.0,"area":"France","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"France","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"Reunion","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Reunion","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Portugal","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Portugal","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.0,"area":"Germany","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Germany","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Austria","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Austria","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Switzerland","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Switzerland","status":"Validated","source":"22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-24","source":"15185215[PMID]_29261981[PMID]","terms":[{"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:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025656","label":"Prenatal double bubble sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001732","label":"Abnormality of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004414","label":"Abnormality of the pulmonary artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001734","label":"Annular pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034754","label":"Bilious emesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004909","label":"Hypokalemic hypochloremic metabolic alkalosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030145","label":"Lack of bowel sounds","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002587","label":"Projectile vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}