ORPHA:172976
Congenital myopathy with cores
- 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 myopathy with cores | |
| fr | Myopathie congénitale avec cores | |
| de | Kongenitale Myopathie mit Kern (Core-Krankheiten) | |
| es | Miopatía congénita con cores | |
| it | Miopatia congenita con strutture centrali | |
| nl | Congenitale myopathie met kernen | |
| pt | Miopatia congénita com núcleos | |
| pl | Wrodzona miopatia z jądrami | |
| cs | Vrozená myopatie s "cores | |
| uk | Вроджена міопатія з ядрами | |
| zh | 先天性核肌病 | |
| tr | Çekirdekli doğumsal miyopati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15765 | E | validated | |
| UMLS | C5680516 | 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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/172976
- This record as JSON: /data/d/172976.json