{"orpha":268744,"name":"Spinal dysraphism with a posterior meningocele","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Spina bifida cystica"],"definition":"A rare spinal dysraphism characterized by the presence of a posteriorly located sac containing cerebrospinal fluid.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268744/","orphanet_url":"https://www.orpha.net/en/disease/detail/268744","names":{"fr":{"name":"Dysraphisme spinal associé à une méningocèle postérieure","synonyms":["Spina bifida cystica","Spina bifida kystique"],"definition":"Dysraphisme spinal rare caractérisé par la présence d'un sac de localisation postérieure contenant du liquide céphalo-rachidien."},"de":{"name":"Spinale Dysraphie mit posteriorer Meningozele","synonyms":["Spina bifida cystica"],"definition":"Eine seltene spinaler Dysraphie, die durch das Vorhandensein eines hinteren Liquorsackes gekennzeichnet ist, der Liquor enthält."},"es":{"name":"Espina bífida quística","definition":"Es un disrafismo espinal poco frecuente caracterizado por la presencia de un saco localizado dorsalmente que contiene líquido cefalorraquídeo."},"it":{"name":"Spina bifida cistica"},"nl":{"name":"Spina bifida cystica","definition":"Een zeldzame spinale dysrafie, gekenmerkt door de aanwezigheid van een posterieur gesitueerde zak die cerebrospinaal vocht bevat."},"pt":{"name":"Espinha bífida quística","definition":"Disrafismo espinhal raro caracterizado pela presença de um saco localizado posteriormente contendo líquido cefalorraquidiano."},"pl":{"name":"Rozszczep kręgosłupa torbielowaty","synonyms":["Spina bifida cystica"],"definition":"Rzadka dysraficzna wada kręgosłupa charakteryzująca się obecnością zlokalizowanego po jego tylnej stronie worka zawierającego płyn mózgowo-rdzeniowy."},"cs":{"name":"Spina bifida cystica","synonyms":["Spina bifida cystica"]},"uk":{"name":"Спинальний дизрафізм із заднім менінгоцеле","synonyms":["Spina bifida cystica"],"definition":"A rare spinal dysraphism characterized by the presence of a posteriorly located sac containing cerebrospinal fluid."},"zh":{"name":"囊性脊柱裂"},"tr":{"name":"Spina bifida sistika"}},"xrefs":[{"source":"ICD-11","code":"LA02.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"979482551"},{"source":"MONDO","code":"0017069","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17069","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016137","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0037917","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071011","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":268748,"name":"OBSOLETE: Total spina bifida cystica","status":"inactive"},{"type":"Referred to","orpha":268752,"name":"OBSOLETE: Thoracolumbosacral spina bifida cystica","status":"inactive"},{"type":"Referred to","orpha":268758,"name":"OBSOLETE: Lumbosacral spina bifida cystica","status":"inactive"},{"type":"Referred to","orpha":268762,"name":"OBSOLETE: Cervical spina bifida cystica","status":"inactive"},{"type":"Referred to","orpha":268766,"name":"OBSOLETE: Cervicothoracic spina bifida cystica","status":"inactive"},{"type":"Referred to","orpha":268770,"name":"OBSOLETE: Upper thoracic spina bifida cystica","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":823,"name":"Spina bifida and other spinal dysraphisms","classifications":[147,156,181]}],"children":[{"orpha":268810,"name":"Isolated posterior meningocele","type":"Morphological anomaly"},{"orpha":268813,"name":"Myelocystocele","type":"Clinical group"},{"orpha":645270,"name":"Open spinal dysraphism with a posterior meningocele","type":"Clinical group"},{"orpha":645319,"name":"Saccular spinal dysraphism with a stalk to the dome","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":33.0,"area":"Saudi Arabia","status":"Validated","source":"17587020[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}