{"orpha":1931,"name":"Frontal encephalocele","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Anterior encephalocele"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-1931/","orphanet_url":"https://www.orpha.net/en/disease/detail/1931","names":{"fr":{"name":"Encéphalocèle frontale","synonyms":["Encéphalocèle antérieure"]},"de":{"name":"Enzephalozele, frontale","synonyms":["Enzephalozele, vordere"]},"es":{"name":"Encefalocele frontal"},"it":{"name":"Encefalocele frontale","synonyms":["Encefalocele anteriore"]},"nl":{"name":"Frontale encefalocele","synonyms":["Anterieure encefalocele"]},"pt":{"name":"Encefalocelo frontal","synonyms":["Encefalocelo anterior"]},"pl":{"name":"Przepuklina mózgowa czołowa","synonyms":["Przepuklina mózgowa przednia"]},"cs":{"name":"Frontální encefalokéla","synonyms":["Přední encefalokéla"]},"uk":{"name":"Енцефалоцеле лобної ділянки","synonyms":["Переднє енцефалоцеле"]},"zh":{"name":"额部脑疝","synonyms":["前部脑疝"]},"tr":{"name":"Frontal ensefalosel","synonyms":["anterior ensefalosel"]}},"xrefs":[{"source":"ICD-10","code":"Q01.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1375023725"},{"source":"MONDO","code":"0016020","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431289","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":199647,"name":"Isolated encephalocele","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002415","label":"Leukodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}