ORPHA:206973
Congenital myotonia
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital myotonia | |
| fr | Myotonie congénitale | |
| de | Myotonie, kongenitale | |
| es | Miotonía congénita | |
| it | Miotonia congenita | |
| nl | Congenitale myotonie | |
| pt | Miotonia congénita | |
| pl | Miotonia wrodzona | |
| cs | Vrozená myotonie | |
| uk | Вроджена міотонія | |
| zh | 先天性肌强直 | |
| tr | Doğumsal miyotoni |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16121 | E | validated | |
| MeSH | D009224 | E | validated | |
| UMLS | C5848362 | E | validated | |
| MedDRA | 10049841 | 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:206970Myotonic syndrome
rare genetic diseases; rare neurological diseases
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 | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | 1822774[PMID]_20301529[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/206973
- This record as JSON: /data/d/206973.json