{"orpha":99858,"name":"Idiopathic syringomyelia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiable cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99858/","orphanet_url":"https://www.orpha.net/en/disease/detail/99858","names":{"fr":{"name":"Syringomyélie idiopathique","definition":"La syringomyélie idiopathique est une malformation rare et non syndromique du système nerveux central, caractérisée par une cavité longitudinale remplie de fluide au sein du parenchyme de la moelle épinière ou du canal central, en l'absence de cause identifiable. Une douleur est généralement associée, ainsi que des troubles sensitifs et/ou musculo-squelettiques, mais la maladie peut aussi être asymptomatique, diagnostiquée de manière fortuite."},"de":{"name":"Syringomyelie, idiopathische","definition":"Die idiopathische Syringomyelie ist eine seltene, nicht-syndromale Fehlbildung des Zentralnervensystems, die durch einen längsgerichteten, flüssigkeitsgefüllten Hohlraum innerhalb des Rückenmarksparenchyms oder des Zentralkanals gekennzeichnet ist, ohne dass eine eindeutige Ursache erkennbar ist. Sie ist in der Regel mit Schmerzen, sensorischen und/oder muskuloskelettalen Störungen verbunden, kann aber auch ein zufälliger und asymptomatischer Befund sein."},"es":{"name":"Siringomielia idiopática","definition":"La siringomielia idiopática es una malformación rara, no-sindrómica del sistema nervioso central caracterizada por la presencia de una cavidad llena de líquido orientada longitudinalmente dentro del parénquima de la médula espinal o del canal central, sin ninguna causa fácilmente identificable. Por lo general, se asocia con dolor, trastornos sensitivos y/o musculoesqueléticos, pero también puede ser un hallazgo radiológico incidental y asintomático."},"it":{"name":"Siringomielia idiopatica","definition":"La siringomielia idiopatica è una malformazione rara non sindromica del sistema nervoso centrale, caratterizzata da una cavità orientata longitudinalmente contenente liquido, localizzata all'interno del parenchima midollare, in assenza di una causa immediatamente identificabile. Di solito si associa a dolore e a disturbi sensoriali e/o muscoloscheletrici. In alcuni casi la siringomielia è asintomatica, e viene diagnostica del tutto casualmente."},"nl":{"name":"Idiopathische syringomyelie","definition":"Idiopathische syringomyelie is een zeldzame, niet-syndromale malformatie van het centrale zenuwstelsel die gekarakteriseerd wordt door een longitudinaal georiënteerde, met vocht gevulde holte in het parenchym van het ruggenmerg of in het centrale kanaal, zonder een eenvoudig identificeerbare oorzaak. De ziekte is meestal geassocieerd met pijn, sensorische en/of musculoskeletale storingen, maar het kan ook een toevallige en asymptomatische bevinding zijn."},"pt":{"name":"Siringomielia, idiopática"},"pl":{"name":"Idiopatyczna jamistość rdzenia"},"cs":{"name":"Idiopatická syringomyelie"},"uk":{"name":"Ідіопатична сирингомієлія","definition":"Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiable cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding."},"zh":{"name":"特发性脊髓空洞症","definition":"特发性脊髓空洞症是一种罕见的、非综合征的中枢神经系统畸形，其特征是脊髓实质或中央管内有一个纵向定向的充满液体的空腔，没有任何容易识别的病因，它通常与疼痛、感觉和/或肌肉骨骼障碍有关，但也可能是偶然或无症状的发现。"},"tr":{"name":"İdiyopatik siringomiyeli"}},"xrefs":[{"source":"ICD-10","code":"G95.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8D66.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1218010255"},{"source":"MONDO","code":"0020510","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511700","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":99856,"name":"Primary syringomyelia","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}