ORPHA:98748
Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect
- 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 | Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect | |
| fr | Canalopathie neurologique génétique associée au recepteur de l'acétylcholine du système nerveux central | |
| de | Ionenkanalkrankheit des ZNS, bei genetisch bedingtem Acetylcholin-Rezeptordefekt | |
| es | Canalopatía neurológica del sistema nervioso central por un defecto genético del receptor de acetilcolina | |
| it | Canalopatia neurologica del sistema nervoso centrale da difetto genetico del recettore acetilcolinico | |
| nl | Neurologische kanalopathie van centraal zenuwstelsel door genetisch defect van acetylcholinereceptor | |
| pt | Canalopatia neurológica do sistema nervoso central por defeito genético do recetor de acetilcolina | |
| pl | Neurologiczna kanałopatia centralnego układu nerwowego z powodu genetycznego defektu receptora dla acetylocholiny | |
| cs | Kanálopatie centrálního nervového systému způsobené geneticky podmíněnou poruchou receptoru pro acetylcholin | |
| uk | Неврологічна каналопатія центральної нервової системи внаслідок генетичного дефекту ацетилхолінових рецепторів | |
| zh | 遗传性乙酰胆碱受体缺陷所致神经离子通道病 | |
| tr | Genetik asetilkolin reseptör defekti nedeniyle merkezi sinir sisteminin nörolojik kanalopatisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681701 | 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:98743Genetic neurological channelopathy of the central nervous system
rare genetic diseases
Children (1):
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/98748
- This record as JSON: /data/d/98748.json