Primary syringomyelia
Synonyms: Congenital syringomyelia
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary syringomyelia | Congenital syringomyelia |
| fr | Syringomyélie primaire | Syringomyélie congénitale |
| de | Syringomyelie, primäre | Syringomyelie, kongenitale |
| es | Siringomielia primaria | Siringomielia congénita |
| it | Siringomielia primitiva | Siringomielia congenita |
| nl | Primaire syringomyelie | Congenitale syringomyelie |
| pt | Siringomielia, primária | |
| pl | Pierwotna jamistość rdzenia | Wrodzona jamistość rdzenia |
| cs | Primární syringomyelie | Vrozená syringomyelie |
| uk | Первинна сирингомієлія | Вроджена сирингомієлія |
| zh | 原发性脊髓空洞症 | 先天性脊髓空洞症 |
| tr | Primer siringomiyeli | Doğumsal siringomiyeli |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q06.4 | NTBT | attributed | validated |
| ICD-11 | LA07.3 | NTBT | index | validated |
| MONDO | 0020508 | E | validated | |
| UMLS | C1299627 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:268843Malformation of the neurenteric canal, spinal cord and column
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:3280Syringomyelia
rare neurological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:268871OBSOLETE: Primary syringomyelia/hydromyelia referred to · inactive
- ORPHA:268874OBSOLETE: Congenital hydromyelia referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99856
- This record as JSON: /data/d/99856.json