ORPHA:3280
Syringomyelia
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
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).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syringomyelia | |
| fr | Syringomyélie | |
| de | Syringomyelie | |
| es | Siringomielia | |
| it | Siringomielia | |
| nl | Syringomyelie | |
| pt | Siringomielia | |
| pl | Jamistość rdzenia | Wodordzenie · Syringomyelia |
| cs | Syringomyelie | Hydromyelie |
| uk | Сирингомієлія | |
| zh | 脊髓空洞症 | 脊髓积水 |
| tr | Siringomyeli | Hidromiyeli |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 186700 | E | validated | |
| ICD-11 | 8D66 | NTBT | specific | validated |
| MONDO | 0017987 | E | validated | |
| MONDO | 17987 | E | validated | |
| MeSH | D013595 | E | validated | |
| UMLS | C0039144 | E | validated | |
| GARD | 7725 | E | validated | |
| MedDRA | 10042928 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:102000Medullar disease
rare neurological diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 8.4 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 8.4 / 100 000 | United Kingdom | Value and class | Validated | 4224973[PMID] |
| Point prevalence | 1-9 / 100 000 | 9 / 100 000 | Spain | Value and class | Validated | 2054207[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.94 / 100 000 | Japan | Value and class | Validated | 21943925[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.2 / 100 000 | New Zealand | Value and class | Validated | 16549414[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3280
- This record as JSON: /data/d/3280.json