ORPHA:457074
Congenital nemaline myopathy
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital nemaline myopathy | |
| fr | Myopathie à némaline congénitale | |
| de | Nemalin-Myopathie, kongenitale | |
| es | Miopatía nemalínica congénita | |
| it | Miopatia nemalinica congenita | |
| nl | Congenitale nemaline myopathie | |
| pt | Miopatia nemalina congénita | |
| pl | Wrodzona miopatia nemalinowa | |
| cs | Kongenitální nemalinová myopatie | Vrozená nemalinová myopatie |
| uk | Вроджена немалінова міопатія | |
| zh | 先天性线形体肌病 | |
| tr | Doğumsal nemalin miyopati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18701 | E | validated | |
| UMLS | C1268589 | 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 (1):
- ORPHA:97245Congenital myopathy
rare genetic diseases; rare neurological diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/457074
- This record as JSON: /data/d/457074.json