{"orpha":268820,"name":"Cranial meningocele","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare central nervous system malformation characterized by herniation of meninges through a permanent defect in the skull. It is lined by arachnoid and contains cerebrospinal fluid, but no brain tissue. Signs and symptoms depend on the location of the lesion and are related to mass effect, skull deformities, or leaking of cerebrospinal fluid.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268820/","orphanet_url":"https://www.orpha.net/en/disease/detail/268820","names":{"fr":{"name":"Méningocèle crâniale","definition":"Malformation rare du système nerveux central caractérisée par une hernie des méninges due à un défaut permanent d'ossification de la voûte crânienne. Elle est tapissée de l'arachnoïde et contient du liquide cérébrospinal, mais pas de tissu cérébral. Les signes et les symptômes dépendent de la localisation de la lésion et sont liés à un effet de masse, à des déformations du crâne ou à une fuite de liquide cérébrospinal."},"de":{"name":"Meningozele, kraniale","definition":"Eine seltene Fehlbildung des Zentralnervensystems, bei der die Hirnhäute durch einen permanenten Defekt im Schädel hervortreten. Sie ist von Arachnoidea ausgekleidet und enthält Liquor, aber kein Hirngewebe. Die Anzeichen und Symptome hängen von der Lage der Läsion ab und stehen im Zusammenhang mit Gewebeverdichtungen, Fehlbildungen des Schädels oder dem Austritt von Liquor cerebrospinalis."},"es":{"name":"Meningocele craneal","definition":"Es una malformación poco frecuente del sistema nervioso central caracterizada por hernia de meninges a través de un defecto cefálico permanente. Está revestida por la aracnoides y contiene líquido cefalorraquídeo, aunque no presenta tejido cerebral. Los signos y síntomas dependen de la localización de la lesión y están asociados al efecto masa, a las malformaciones craneales asociadas o a la pérdida de líquido cefalorraquídeo."},"it":{"name":"Meningocele cranico","definition":"Si tratta di una malformazione rara del sistema nervoso centrale, caratterizzata dall'erniazione delle meningi attraverso un difetto permanente nel cranio. È rivestito dall'aracnoide e contiene liquido cefalorachidiano, ma non tessuto cerebrale. I segni clinici dipendono dalla localizzazione della lesione e dalla presenza della massa, dalle deformazioni del cranio e dalla fuoriuscita di liquido cefalorachidiano."},"nl":{"name":"Craniale meningocele","definition":"Een zeldzame malformatie van centraal zenuwstelsel, gekenmerkt door herniatie van hersenvliezen doorheen een permanent defect in de schedel. Het is bekleed met spinnenwebvlies (arachnoidea) en bevat cerebrospinaal vocht, maar geen hersenweefsel. Verschijnselen en symptomen zijn afhankelijk van de locatie van de laesie en zijn gerelateerd aan massa-effect, schedeldeformiteiten, of lekken van cerebrospinaal vocht."},"pt":{"name":"Meningocelo craniano"},"pl":{"name":"Przepuklina oponowa czaszkowa"},"cs":{"name":"Kraniální meningokéla"},"uk":{"name":"Черепно-мозкова менінгоцеле","definition":"A rare central nervous system malformation characterized by herniation of meninges through a permanent defect in the skull. It is lined by arachnoid and contains cerebrospinal fluid, but no brain tissue. Signs and symptoms depend on the location of the lesion and are related to mass effect, skull deformities, or leaking of cerebrospinal fluid."},"zh":{"name":"脑脊膜膨出"},"tr":{"name":"Kraniyal meningosel"}},"xrefs":[{"source":"ICD-10","code":"Q01.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-10","code":"Q01.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-10","code":"Q01.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-10","code":"Q01.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-10","code":"Q01.9","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1264577445"},{"source":"MONDO","code":"0017079","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17079","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0009694","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268817,"name":"Cephalocele","classifications":[147,156,181]}],"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}