{"orpha":268813,"name":"Myelocystocele","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non terminal myelocystocele).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268813/","orphanet_url":"https://www.orpha.net/en/disease/detail/268813","names":{"fr":{"name":"Myélocystocèle","definition":"Anomalie rare et fermée du tube neural caractérisée par une dilatation kystique du canal central de la moelle épinière, qui fait hernie à travers une anomalie de l'arc vertébral postérieur (spina bifida) dans un sac dural rempli de liquide céphalo-rachidien (méningocèle). Elle peut être située dans la partie caudale de la moelle épinière (myélocystocèle terminale) ou au-dessus du cône (myélocystocèle non terminale)."},"de":{"name":"Myelozystozele","definition":"Ein seltener geschlossener Neuralrohrdefekt, der durch eine zystische Erweiterung des zentralen Rückenmarkskanals gekennzeichnet ist, die durch einen hinteren Wirbelbogendefekt (Spina bifida) in einen erweiterten, mit Liquor gefüllten Duralsack (Meningocele) herniert. Sie kann sich im kaudalen Teil des Rückenmarks (terminale Myelozystozele) oder oberhalb des Konus (nicht terminale Myelozystozele) befinden."},"es":{"name":"Mielocistocele","definition":"Es un defecto cerrado del tubo neural, poco frecuente, caracterizado por una dilatación quística del canal central de la médula espinal, que se hernia a través de un defecto del arco vertebral posterior (espina bífida) hacia un saco dural expandido lleno de líquido cefalorraquídeo (LCR) (meningocele). Puede ubicarse en la parte caudal de la médula espinal (mielocistocele terminal) o encima del cono (mielocistocele no terminal)."},"it":{"name":"Mielocistocele","definition":"Si tratta di un difetto raro del tubo neurale, caratterizzato dalla dilatazione cistica del canale centrale del midollo spinale, associato alla formazione di un'ernia posteriore attraverso un difetto della colonna dorsale. La malformazione può localizzarsi in qualsiasi punto del midollo spinale, ma è più comune nella regione cervicale posteriore e in quella lombosacrale. Può essere isolato oppure associarsi ad altri difetti, come le anomalie anorettali e genitourinarie e l'agenesia del sacro."},"nl":{"name":"Myelocystocele","definition":"Een zeldzaam neuralebuisdefect, gekenmerkt door cystische dilatatie van het centrale kanaal van ruggenmerg, herniatie doorheen een posterieur defect van wervelboog (spina bifida) in een uitgezette, met cerebrospinaal vocht (CSV) gevulde durale zak (meningocele). Het kan gesitueerd zijn in het caudale deel van het ruggenmerg (terminale myelocystocele) of boven de conus (niet-terminale myelocystocele)."},"pt":{"name":"Mielocistocelo","definition":"Defeito do tubo neural fechado raro, caracterizado por dilatação quística do canal central da medula espinhal, herniando através de um defeito do arco vertebral posterior (espinha bífida) num saco dural expandido preenchido com líquido cefalorraquidiano (LCR) (meningocelo). Pode estar localizado na parte caudal da medula espinhal (mielocistocelo terminal) ou acima do cone (mielocistocelo não terminal)."},"pl":{"name":"Mielocystocele","definition":"Rzadka zamknięta wada cewy nerwowej charakteryzująca się torbielowatym poszerzeniem centralnego kanału rdzenia kręgowego, wpuklająca się przez ubytek tylnego łuku kręgowego (rozszczep kręgosłupa) do worka opony twardej wypełnionego płynem mózgowo-rdzeniowym (przepuklina oponowa). Może być zlokalizowany w ogonowej części rdzenia kręgowego (przepuklina rdzeniowa terminalna) lub nad stożkiem (przepuklina rdzeniowa nieterminalna)."},"cs":{"name":"Myelocystokéla"},"uk":{"name":"Мієлоцистоцеле","definition":"A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non terminal myelocystocele)."},"zh":{"name":"脊髓囊状突出","definition":"一种罕见的神经管缺损，特征是脊髓中央管囊性扩张，通过背部脊髓缺损向后突出。畸形可以发生在脊髓的任何地方，但似乎更常见于颈椎后部和腰骶部。它可能是孤立的异常，也可能与其他缺陷有关，包括肛门直肠和泌尿生殖系统异常，或骶骨发育不全。"},"tr":{"name":"Miyelosistosel"}},"xrefs":[{"source":"ICD-10","code":"Q05.9","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LA02.02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"863949070"},{"source":"MONDO","code":"0017077","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17077","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551677","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":[{"orpha":645340,"name":"Non-terminal myelocystocele","type":"Morphological anomaly"},{"orpha":645337,"name":"Terminal myelocystocele","type":"Morphological anomaly"}],"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":null}