{"orpha":268936,"name":"Isolated arhinencephaly","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268936/","orphanet_url":"https://www.orpha.net/en/disease/detail/268936","names":{"fr":{"name":"Arhinencéphalie isolée","definition":"Malformation rare et non syndromique du système nerveux central définie par l'agénésie des bulbes et des voies olfactives et caractérisée par une anosmie congénitale complète."},"de":{"name":"Arhinenzephalie, isolierte"},"es":{"name":"Arrinencefalia aislada","definition":"Es una malformación no sindrómica poco frecuente del sistema nervioso central definida por la agenesia de bulbos y tractos olfatorios y caracterizada por anosmia congénita completa."},"it":{"name":"Arinencefalia isolata","definition":"L'arinencefalia isolata è una malformazione rara non sindromica del sistema nervoso centrale, caratterizzata dall'agenesia dei bulbi e dei tratti olfattivi, associata ad anosmia completa congenita."},"nl":{"name":"Geïsoleerde arhinencefalie","definition":"Geïsoleerde arhinencefalie is een zeldzame niet-syndromale malformatie van het centrale zenuwstelsel die wordt gedefinieerd door de agenesie van de bulbi olfactorii (reukkolven) en tracti olfactorii (reukbanen) en die wordt gekarakteriseerd door volledige congenitale anosmie."},"pt":{"name":"Arrinencefalia isolada"},"pl":{"name":"Izolowana arinencefalia"},"cs":{"name":"Izolovaná arinencefalie"},"uk":{"name":"Ізольована аріненцефалія","definition":"Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia."},"zh":{"name":"无嗅脑畸形","definition":"孤立性无脑畸形是一种罕见的非综合征性中枢神经系统畸形，以嗅球和嗅束发育不全为特征，表现为完全先天性嗅觉缺失。"},"tr":{"name":"İzole arinensefali"}},"xrefs":[{"source":"ICD-10","code":"Q04.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA05.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"314107400"},{"source":"MONDO","code":"0968959","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"968959","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749732","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":199633,"name":"Non-syndromic cerebral malformation","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}