ORPHA:370034
Familial syringomyelia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial syringomyelia | |
| fr | Syringomyélie familiale | |
| de | Syringomyelie, familiäre | |
| es | Siringomielia familiar | |
| it | Siringomielia familiare | |
| nl | Familiale syringomyelie | |
| pt | Siringomielia familiar | |
| pl | Rodzinna jamistość rdzenia | |
| cs | Familiární syringomyelie | |
| uk | Сімейна сирингомієлія | |
| zh | 家族性脊髓空洞症 | |
| tr | Ailesel siringomiyeli |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q06.4 | NTBT | attributed | validated |
| ICD-11 | 8D66 | NTBT | attributed | validated |
| MONDO | 0018257 | E | validated | |
| UMLS | C5680970 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:99856Primary syringomyelia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:183515Rare genetic medullar disease
rare genetic diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 7482254[PMID]_18050067[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.
6
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/370034
- This record as JSON: /data/d/370034.json