{"orpha":601008,"name":"Non-syndromic anal stenosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Non-syndromic ARM with anal stenosis","Non-syndromic anorectal malformation with anal stenosis"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-601008/","orphanet_url":"https://www.orpha.net/en/disease/detail/601008","names":{"fr":{"name":"Sténose anale non syndromique","synonyms":["ARM non syndromique avec sténose anale","MAR non syndromique avec sténose anale","Malformation anorectale non syndromique avec sténose anale"]},"de":{"name":"Nicht-syndromale Analstenose","synonyms":["Nicht-syndromale ARM mit Analstenose","Nicht-syndromale anorektale Fehlbildung mit Analstenose"]},"es":{"name":"Estenosis anal no sindrómica","synonyms":["MAR no sindrómica con estenosis anal","Malformación anorrectal no sindrómica con estenosis anal"]},"it":{"name":"Stenosi anale non sindromica","synonyms":["MAR non sindromica con stenosi anale","Malformazione anorettale non sindromica con stenosi anale"]},"nl":{"name":"Niet-syndromale stenose van anus","synonyms":["Niet-syndromale ARM met stenose van anus","Niet-syndromale anorectale malformatie met stenose van anus"]},"pt":{"name":"Malformação anorrectal não-sindromática com estenose anal"},"pl":{"name":"Niesyndromiczne zwężenie odbytu","synonyms":["Non-syndromic ARM with anal stenosis","Non-syndromic anorectal malformation with anal stenosis"]},"cs":{"name":"Nesyndromická anorektální malformace s anální stenózou","synonyms":["Non-syndromic ARM with anal stenosis","Non-syndromic anorectal malformation with anal stenosis"]},"uk":{"name":"Несиндромальна аноректальна вада розвитку з анальним стенозом","synonyms":["Несиндромальна ARM з анальним стенозом"]},"zh":{"name":"Non-syndromic anorectal malformation with anal stenosis","synonyms":["Non-syndromic ARM with anal stenosis"]},"tr":{"name":"Non-syndromic anorectal malformation with anal stenosis","synonyms":["Non-syndromic ARM with anal stenosis"]}},"xrefs":[{"source":"ICD-10","code":"Q42.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB17.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035788","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680233","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":557,"name":"Non-syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"16226976[PMID]_31194415[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"16226976[PMID]_31194415[PMID]_ORPHANET"}],"phenotypes":null}