ORPHA:98737
Genetic neurological muscular channelopathy
- 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 | Genetic neurological muscular channelopathy | |
| fr | Canalopathie neurologique musculaire génétique | |
| de | Ionenkanalkrankheit, neuromuskuläre, genetisch bedingte | |
| es | Canalopatía neurológica muscular genética | |
| it | Canalopatia muscolare genetica | |
| nl | Genetische neurologische musculaire kanalopathie | |
| pt | Canalopatia neurológica muscular genética | |
| pl | Genetyczna neurologiczna kanałopatia mięśniowa | |
| cs | Genetické neurologické svalové kanálopatie | |
| uk | Генетично обумовлена неврологічна мязова каналопатія | |
| zh | 遗传性神经肌肉通道病 | |
| tr | Genetik nörolojik kas kanalpati |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681683 | 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 (2):
- ORPHA:183497Genetic neuromuscular disease
rare genetic diseases - ORPHA:71864Muscular channelopathy
rare neurological diseases
Children (5):
- ORPHA:98740Neurological muscular channelopathy due to a genetic calcium channel defect
- ORPHA:98739Neurological muscular channelopathy due to a genetic chloride channel defect
- ORPHA:98741Neurological muscular channelopathy due to a genetic potassium channel defect
- ORPHA:98742Neurological muscular channelopathy due to a genetic ryanodine receptor defect
- ORPHA:98738Neurological muscular channelopathy due to a genetic sodium channel defect
Codes that Orphanet moved or referred to this one:
- ORPHA:352298OBSOLETE: Genetic muscular channelopathy referred to · inactive
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/98737
- This record as JSON: /data/d/98737.json