ORPHA:98743
Genetic neurological channelopathy of the central nervous system
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic neurological channelopathy of the central nervous system | |
| fr | Canalopathie neurologique génétique du système nerveux central | |
| de | Ionenkanalkrankheit des ZNS, genetisch bedingte | |
| es | Canalopatía genética del sistema nervioso central | |
| it | Canalopatia genetica del sistema nervoso centrale | |
| nl | Genetische neurologische kanalopathie van centraal zenuwstelsel | |
| pt | Canalopatia neurológica do sistema nervoso central genética | |
| pl | Genetyczna kanałopatia neurologiczna centralnego układu nerwowego | |
| cs | Geneticky podmíněné kanálopatie centrálního nervového systému | |
| uk | Генетично обумовлена неврологічна каналопатія центральної нервової системи | |
| zh | 中枢神经系统遗传性神经离子通道病 | |
| tr | Merkezi sinir sisteminin genetik nörolojik kanalopatisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681704 | 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:71859Rare genetic neurological disorder
rare genetic diseases
Children (7):
- ORPHA:98749Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect
- ORPHA:98748Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect
- ORPHA:98745Neurological channelopathy of the central nervous system due to a genetic calcium channel defect
- ORPHA:538238Neurological channelopathy of the central nervous system due to a genetic chloride channel defect
- ORPHA:98747Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect
- ORPHA:98746Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
- ORPHA:98744Neurological channelopathy of the central nervous system due to a genetic sodium channel defect
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/98743
- This record as JSON: /data/d/98743.json