{"orpha":1198,"name":"Colonic atresia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1198/","orphanet_url":"https://www.orpha.net/en/disease/detail/1198","names":{"fr":{"name":"Atrésie du côlon","synonyms":["Atrésie colique"],"definition":"L'atrésie colique est une malformation intestinale congénitale résultant en un segment non-latent du colon. Elle est caractérisée par une obstruction de la partie inférieure de l'intestin et l'impossibilité pour les nouveau-nés d'évacuer le méconium."},"de":{"name":"Dickdarmatresie","synonyms":["Kolonatresie"],"definition":"Dickdarmatresie ist eine kongenitale Darmfehlbildung mit nicht-durchgängigen Segmenten des Kolons und tiefem Darmverschluss. Symptome bei Neugeborenen sind aufgetriebenes Abdomen und fehlender Abgang von Mekonium"},"es":{"name":"Atresia de colon","definition":"La atresia de colon es una malformación intestinal congénita que da como resultado un segmento no latente del colon y que se caracteriza por una obstrucción intestinal menor que se manifiesta con una distensión abdominal y un fallo en la expulsión del meconio en recién nacidos."},"it":{"name":"Atresia del colon","definition":"L'atresia del colon è una malformazione congenita dell'intestino, che dà origine ad una porzione \"esclusa\" del colon e si caratterizza per un'ostruzione nella parte inferiore dell'intestino, che si manifesta con una distensione dell'addome e l'incapacità di espellere il meconio nei neonati."},"nl":{"name":"Colonatresie","definition":"Een congenitale malformatie van darm, die resulteert in een niet-latent segment van colon, en gekenmerkt door obstructie van onderste deel van darm die zich manifesteert met abdominale distensie en falen van passage van meconium bij neonaten."},"pt":{"name":"Atresia do cólon"},"pl":{"name":"Atrezja okrężnicy"},"cs":{"name":"Atrézie tračníku"},"uk":{"name":"Атрезія товстої кишки","definition":"Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns."},"zh":{"name":"结肠闭锁"},"tr":{"name":"Kolon atrezisi"}},"xrefs":[{"source":"OMIM","code":"303650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q42.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB16.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1898672766"},{"source":"MONDO","code":"0010562","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562562","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266190","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1446","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":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Worldwide","status":"Validated","source":"31891361[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"United Kingdom","status":"Validated","source":"2342005[PMID]"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_2342005[PMID]_16080929[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010448","label":"Colonic atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004398","label":"Peptic ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100016","label":"Abnormality of mesentery morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100867","label":"Duodenal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003363","label":"Abdominal situs inversus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001543","label":"Gastroschisis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null}]}}