{"orpha":601023,"name":"Non-syndromic rectal stenosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Non-syndromic ARM with rectal stenosis","Non-syndromic anorectal malformation with rectal stenosis"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-601023/","orphanet_url":"https://www.orpha.net/en/disease/detail/601023","names":{"fr":{"name":"Sténose rectale non syndromique","synonyms":["ARM non syndromique avec sténose rectale","MAR non syndromique avec sténose rectale","Malformation anorectale non syndromique avec sténose rectale"]},"de":{"name":"Nicht-syndromale Rektumstenose","synonyms":["Nicht-syndromale ARM mit Rektumstenose","Nicht-syndromale anorektale Fehlbildung mit Rektumstenose"]},"es":{"name":"Estenosis rectal no sindrómica","synonyms":["MAR no sindrómica con estenosis rectal","Malformación anorrectal no sindrómica con estenosis rectal"]},"it":{"name":"Stenosi rettale non sindromica","synonyms":["MAR non sindromica con stenosi rettale","Malformazione anorettale non sindromica con stenosi rettale"]},"nl":{"name":"Niet-syndromale stenose van rectum","synonyms":["Niet-syndromale ARM met stenose van rectum","Niet-syndromale anorectale malformatie met stenose van rectum","Niet-syndromale stenose van endeldarm"]},"pt":{"name":"Malformação anorrectal não-sindromática com estenose rectal"},"pl":{"name":"Niesyndromiczne zwężenie odbytnicy","synonyms":["Non-syndromic ARM with rectal stenosis","Non-syndromic anorectal malformation with rectal stenosis"]},"cs":{"name":"Nesyndromická anorektální malformace se stenózou rekta","synonyms":["Non-syndromic ARM with rectal stenosis","Non-syndromic anorectal malformation with rectal stenosis"]},"uk":{"name":"Несиндромальна аноректальна вада розвитку зі стенозом прямої кишки","synonyms":["Несиндромальна ARM зі стенозом прямої кишки"]},"zh":{"name":"Non-syndromic anorectal malformation with rectal stenosis","synonyms":["Non-syndromic ARM with rectal stenosis"]},"tr":{"name":"Non-syndromic anorectal malformation with rectal stenosis","synonyms":["Non-syndromic ARM with rectal stenosis"]}},"xrefs":[{"source":"ICD-10","code":"Q42.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB17.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035791","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680236","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}