{"orpha":3280,"name":"Syringomyelia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A rare medullar disease characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord as a result of an obstruction to CSF flow, either at the craniovertebral junction (Chiari malformation) or in the perimedullary subarachnoid spaces (arachnoiditis).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3280/","orphanet_url":"https://www.orpha.net/en/disease/detail/3280","names":{"fr":{"name":"Syringomyélie","definition":"Maladie rare de la moelle épinière caractérisée par la présence des cavités remplies de liquide cérébrospinal (LCS) (syrinx) à l'intérieur de la moelle épinière en raison d'une obstruction à la circulation du LCS, soit à la jonction craniovertébrale (malformation de Chiari), soit dans les espaces sous-arachnoïdiens périmédullaires (arachnoïdite)."},"de":{"name":"Syringomyelie","definition":"Eine seltene Erkrankung des Rückenmarks, die durch mit Liquor gefüllte Hohlräume (Syrinx) innerhalb des Rückenmarks gekennzeichnet ist, die durch eine Behinderung des Liquorflusses entweder an der kraniovertebralen Verbindung (Chiari-Fehlbildung) oder in den perimedullären Subarachnoidalräumen (Arachnoiditis) entstehen."},"es":{"name":"Siringomielia","definition":"Es una enfermedad medular poco frecuente caracterizada por la formación de cavidades intramedulares (siringe) llenas de líquido cefalorraquídeo (LCR) como resultado de una obstrucción del flujo de LCR, ya sea en la unión craneocervical (malformación de Chiari) o en el espacio subaracnoideo perimedular (aracnoiditis)."},"it":{"name":"Siringomielia"},"nl":{"name":"Syringomyelie","definition":"Een zeldzame medullaire aandoening, gekenmerkt door met cerebrospinaal vocht (CSV) gevulde holtes (syrinx) in het ruggenmerg als gevolg van een obstructie van de CSV-stroom, hetzij ter hoogte van de craniovertebrale overgang (Chiari-malformatie) of in de perimedullaire subarachnoïdale ruimtes (arachnoïditis)."},"pt":{"name":"Siringomielia","definition":"Doença medular rara caracterizada por cavidades cheias de líquido cefalorraquidiano (LCR) (siringe) dentro da medula espinhal como resultado de uma obstrução ao fluxo do LCR, seja na junção craniovertebral (malformação Chiari) ou nos espaços subaracnoideus perimedulares (aracnoidite)."},"pl":{"name":"Jamistość rdzenia","synonyms":["Wodordzenie","Syringomyelia"]},"cs":{"name":"Syringomyelie","synonyms":["Hydromyelie"]},"uk":{"name":"Сирингомієлія","definition":"A rare medullar disease characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord as a result of an obstruction to CSF flow, either at the craniovertebral junction (Chiari malformation) or in the perimedullary subarachnoid spaces (arachnoiditis)."},"zh":{"name":"脊髓空洞症","synonyms":["脊髓积水"]},"tr":{"name":"Siringomyeli","synonyms":["Hidromiyeli"]}},"xrefs":[{"source":"OMIM","code":"186700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-11","code":"8D66","qualifier":"NTBT","icd_relation":"specific","validated":true,"icd11_uri":"1925186604"},{"source":"MONDO","code":"0017987","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17987","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013595","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0039144","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7725","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10042928","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102000,"name":"Medullar disease","classifications":[181]}],"children":[{"orpha":99856,"name":"Primary syringomyelia","type":"Morphological anomaly"},{"orpha":99857,"name":"Secondary syringomyelia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.4,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.4,"area":"United Kingdom","status":"Validated","source":"4224973[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.0,"area":"Spain","status":"Validated","source":"2054207[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.94,"area":"Japan","status":"Validated","source":"21943925[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.2,"area":"New Zealand","status":"Validated","source":"16549414[PMID]"}],"phenotypes":null}