{"orpha":268810,"name":"Isolated posterior meningocele","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268810/","orphanet_url":"https://www.orpha.net/en/disease/detail/268810","names":{"fr":{"name":"Méningocèle postérieure isolée","definition":"La méningocèle postérieure est une anomalie rare de la fermeture du tube neural. Elle se caractérise par l'engagement d'un sac rempli de liquide céphalorachidien, qui est bordé par la dure-mère et l'arachnoïde <i>via</i> une spina bifida postérieure, et couvert par une couche cutanée d'épaisseur variable, pouvant être dysplasique ou ulcérée. La moelle épinière et les nerfs ne sont généralement pas inclus et fonctionnent normalement. Toutefois, une moelle épinière attachée peut parfois être associée. Ils sont généralement situés dans la région lombaire ou sacrée."},"de":{"name":"Meningozele, isolierte posteriore","definition":"Die posteriore Meningozele ist ein seltener Neuralrohrverschlussdefekt, der durch die Herniation eines mit Liquor gefüllten Sackes, der von Dura und Arachnoidea ausgekleidet ist, durch eine posteriore Spina bifida gekennzeichnet ist und von einer Hautschicht unterschiedlicher Dicke bedeckt ist, die dysplastisch oder ulzeriert sein kann. Das Rückenmark und die Nerven sind im Allgemeinen nicht eingeschlossen und funktionieren normal, obwohl manchmal ein gefesseltes Rückenmark vorhanden sein kann. Sie befinden sich am häufigsten in der Lenden- oder Sakralregion."},"es":{"name":"Meningocele posterior aislado","definition":"El meningocele posterior es un defecto poco frecuente de cierre del tubo neural caracterizado por la herniación de un saco lleno de líquido cefalorraquídeo que está recubierto por la duramadre y la aracnoides, a través de una espina bífida posterior y cubierta por una capa de piel de grosor variable, que puede ser displásica o estar ulcerada. Por lo general, la médula y los nervios espinales no están afectados y funcionan con normalidad, aunque en ocasiones pueden estar asociados a una médula espinal anclada. Por lo general, se localizan en la región lumbar o sacra."},"it":{"name":"Meningocele posteriore isolato","definition":"Il meningocele posteriore è un difetto raro della chiusura del tubo neurale, caratterizzato dall'erniazione del sacco contenente il liquido cerebrospinale, rivestito dalla dura madre e dall'aracnoide, attraverso una spina bifida posteriore; è coperto da uno strato di cute di spessore variabile, che può essere ulcerata o displastica. Di solito il midollo spinale e i nervi non sono interessati e funzionano normalmente; tuttavia in alcuni casi si associa ad un midollo ancorato. Di solito il meningocele si localizza nella regione lombare o sacrale."},"nl":{"name":"Geïsoleerde posterieure meningocele","definition":"Posterieure meningocèle is een zeldzaam sluitingsdefect van de neurale buis dat gekarakteriseerd wordt door de herniatie van een met hersenvocht gevulde en met hard hersenvlies en spinnenwebvlies beklede zak, door een posterieure spina bifida en bedekt met een laag huid met variabele dikte, die dysplastisch of verzweerd kan zijn. Het ruggenmerg en de ruggenmergzenuwen zijn doorgaans niet betrokken en functioneren normaal, hoewel in sommige gevallen een gekluisterd ruggenmerg geassocieerd kan zijn. Meestal situeren ze zich in de lumbale of sacrale regio."},"pt":{"name":"Meningocelo posterior isolado"},"pl":{"name":"Przepuklina oponowa tylna","synonyms":["Izolowana tylna przepuklina oponowa"]},"cs":{"name":"Zadní meningokéla"},"uk":{"name":"Ізольоване заднє менінгоцеле","definition":"Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region."},"zh":{"name":"后脑膜膨出","definition":"后部脑膜膨出是一种罕见的神经管闭合缺损，其特征是由硬脑膜和蛛网膜衬里的充满脑脊液的囊突出，穿过后部脊柱裂，并被一层不同厚度的皮肤覆盖，这层皮肤可能发育不良或溃烂。脊髓和神经一般不包括在内，功能正常，尽管有时可能伴有脊髓栓系。它们最常位于腰部或骶部。"},"tr":{"name":"Posterior meningosel"}},"xrefs":[{"source":"ICD-10","code":"Q05.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q05.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q05.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q05.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA02.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1464755755"},{"source":"MONDO","code":"0017076","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17076","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680741","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":645202,"name":"Closed spinal dysraphism","classifications":[147,156,181]},{"orpha":268744,"name":"Spinal dysraphism with a posterior meningocele","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-22","source":"2072156[PMID]_3652068[PMID]_20464651[PMID]","terms":[{"hpo":"HP:0002435","label":"Meningocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045005","label":"Neural tube defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000805","label":"Enuresis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100565","label":"Hydromyelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040194","label":"Increased head circumference","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005986","label":"Limitation of neck motion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025480","label":"Lipomyelomeningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002436","label":"Occipital meningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010550","label":"Paraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002144","label":"Tethered cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008467","label":"Thoracic hemivertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006986","label":"Upper limb spasticity","frequency":"Occasional (29-5%)","criteria":null}]}}