ORPHA:98744
Neurological channelopathy of the central nervous system due to a genetic sodium channel 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurological channelopathy of the central nervous system due to a genetic sodium channel defect | |
| fr | Canalopathie neurologique génétique associée au canal sodique du système nerveux central | |
| de | Ionenkanalkrankheit des ZNS, bei genetisch bedingtem Natriumkanaldefekt | |
| es | Canalopatía neurológica del sistema nervioso central por un defecto genético de los canales de sodio | |
| it | Canalopatia neurologica del sistema nervoso centrale da difetto genetico del canale del sodio | |
| nl | Neurologische kanalopathie van centraal zenuwstelsel door genetisch defect van natriumkanaal | |
| pt | Canalopatia neurológica do sistema nervoso central por defeito genético do canal de sódio | |
| pl | Neurologiczna kanałopatia centralnego układu nerwowego z powodu genetycznego defektu kanału sodowego | |
| cs | Kanálopatie centrálního nervového systému způsobené geneticky podmíněnou poruchou sodíkového kanálu | |
| uk | Неврологічна каналопатія центральної нервової системи внаслідок генетичного дефекту натрієвих каналів | |
| zh | 遗传性钠通道缺陷所致神经离子通道病 | |
| tr | Genetik sodyum kanalı bozukluğuna bağlı merkezi sinir sisteminin nörolojik kanalopatisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681705 | 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:98743Genetic neurological channelopathy of the central nervous system
rare genetic diseases
Children (10):
- ORPHA:33069Dravet syndrome
- ORPHA:1934Early infantile developmental and epileptic encephalopathy
- ORPHA:293181Epilepsy of infancy with migrating focal seizures
- ORPHA:569Familial or sporadic hemiplegic migraine
- ORPHA:36387Genetic epilepsy with febrile seizure plus
- ORPHA:681Hypokalemic periodic paralysis
- ORPHA:2382Lennox-Gastaut syndrome
- ORPHA:442835Non-specific early-onset epileptic encephalopathy
- ORPHA:306Self-limited infantile epilepsy
- ORPHA:140927Self-limited neonatal/infantile epilepsy
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98744
- This record as JSON: /data/d/98744.json