ORPHA:97245
Congenital myopathy
- Type
- Category
- 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 myopathy | |
| fr | Myopathie congénitale | |
| de | Myopathie, kongenitale | |
| es | Miopatía congénita | |
| it | Miopatia congenita | |
| nl | Congenitale myopathie | |
| pt | Miopatia congénita | |
| pl | Miopatia wrodzona | |
| cs | Vrozené myopatie | |
| uk | Вроджена міопатія | |
| zh | 先天性肌病 | |
| tr | Doğumsal miyopati |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.2 | E | specific | validated |
| ICD-11 | 8C72 | E | specific | validated |
| MONDO | 0019952 | E | validated | |
| UMLS | C0270960 | E | validated | |
| GARD | 5898 | E | validated | |
| MedDRA | 10062547 | 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:206656Non-dystrophic myopathy
rare genetic diseases; rare neurological diseases
Children (26):
- ORPHA:324581Benign Samaritan congenital myopathy
- ORPHA:171881Cap myopathy
- ORPHA:1358Carey-Fineman-Ziter syndrome
- ORPHA:595Centronuclear myopathy
- ORPHA:2020Congenital fiber-type disproportion myopathy
- ORPHA:210163Congenital lethal myopathy, Compton-North type
- ORPHA:172976Congenital myopathy with cores
- ORPHA:98904Congenital myopathy with excess of thin filaments
- ORPHA:424107Congenital myopathy with myasthenic-like onset
- ORPHA:544602Congenital myopathy with reduced type 2 muscle fibers
- ORPHA:457074Congenital nemaline myopathy
- ORPHA:171886Cylindrical spirals myopathy
- ORPHA:439212Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
- ORPHA:363409Fetal akinesia-cerebral and retinal hemorrhage syndrome
- ORPHA:97232Fingerprint body myopathy
- ORPHA:3068Intellectual disability-myopathy-short stature-endocrine defect syndrome
- ORPHA:99741King-Denborough syndrome
- ORPHA:447974Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
- ORPHA:171889Myopathy with hexagonally cross-linked tubular arrays
- ORPHA:53698Myosin storage myopathy
- ORPHA:168572Native American myopathy
- ORPHA:3010Qazi-Markouizos syndrome
- ORPHA:97239Reducing body myopathy
- ORPHA:467176Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- ORPHA:2593Tubular aggregate myopathy
- ORPHA:97240Zebra body myopathy
Codes that Orphanet moved or referred to this one:
- ORPHA:172973OBSOLETE: Congenital myopathy with protein accumulation referred to · inactive
- ORPHA:172979OBSOLETE: Congenital myopathy with central nuclei referred to · inactive
- ORPHA:172982OBSOLETE: Congenital myopathy with fiber size variation referred to · inactive
- ORPHA:172985OBSOLETE: Congenital myopathy with vacuoles referred to · inactive
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 | 3.8 / 100 000 | United States | Value and class | Validated | 22028225[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/97245
- This record as JSON: /data/d/97245.json