{"orpha":600952,"name":"Non-syndromic perineal fistula","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Non-syndromic ARM with perineal fistula","Non-syndromic anorectal malformation with perineal fistula"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-600952/","orphanet_url":"https://www.orpha.net/en/disease/detail/600952","names":{"fr":{"name":"Fistule périnéale non syndromique","synonyms":["ARM non syndromique avec fistule périnéale","MAR non syndromique avec fistule périnéale","Malformation anorectale non syndromique avec fistule périnéale"]},"de":{"name":"Nicht-syndromale perineale Fistel","synonyms":["Nicht-syndromale ARM mit perinealer Fistel","Nicht-syndromale anorektale Fehlbildung mit perinealer Fistel"]},"es":{"name":"Fístula perineal no sindrómica","synonyms":["MAR no sindrómica con fístula perineal","Malformación anorrectal no sindrómica con fístula perineal"]},"it":{"name":"Fistola perineale non sindromica","synonyms":["MAR non sindromica con fistola perineale","Malformazione anorettale non sindromica con fistola cutanea"]},"nl":{"name":"Niet-syndromale perineale fistel","synonyms":["Niet-syndromale ARM met perineale fistel","Niet-syndromale anorectale malformatie met fistel van perineum","Niet-syndromale anorectale malformatie met perineale fistel"]},"pt":{"name":"Fístula perineal não-sindromática","synonyms":["Malformação anorrectal não-sindromática com fístula perineal"]},"pl":{"name":"Niesyndromiczna przetoka krocza","synonyms":["Niesyndromiczna wada rozwojowa odbytu z przetoką kroczową","Niesyndromiczna anorektalna wada rozwojowa z przetoką skórną"]},"cs":{"name":"Nesyndromická anorektální malformace s perineální píštělí","synonyms":["Non-syndromic ARM with perineal fistula","Non-syndromic anorectal malformation with perineal fistula"]},"uk":{"name":"Несиндромальна аноректальна вада розвитку з норицею промежини","synonyms":["Несиндромальна аноректальна вада розвитку з шкірною норицею","Несиндромальна ARM з шкірною норицею","Несиндромальна ARM з промежинною норицею"]},"zh":{"name":"Non-syndromic anorectal malformation with perineal fistula","synonyms":["Non-syndromic ARM with cutaneous fistula","Non-syndromic ARM with perineal fistula","Non-syndromic anorectal malformation with cutaneous fistula"]},"tr":{"name":"Non-syndromic anorectal malformation with perineal fistula","synonyms":["Non-syndromic ARM with cutaneous fistula","Non-syndromic ARM with perineal fistula","Non-syndromic anorectal malformation with cutaneous fistula"]}},"xrefs":[{"source":"ICD-10","code":"Q42.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q42.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB17.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035780","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680241","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}