ORPHA:183512
Rare genetic epilepsy
- 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 | Rare genetic epilepsy | |
| fr | Epilepsie rare de cause génétique | |
| de | Epilepsie, genetisch bedingte, seltene | |
| es | Epilepsia genética rara | |
| it | Epilessia rara genetica | |
| nl | Zeldzame genetische epilepsie | |
| pt | Epilepsia genética rara | |
| pl | Rzadka padaczka uwarunkowana genetyczniea | |
| cs | Vzácné geneticky podmíněné epilepsie | |
| uk | Рідкісна генетично обумовлена епілепсія | |
| zh | 罕见遗传性癫痫 | |
| tr | Nadir genetik epilepsi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15955 | E | validated | |
| UMLS | C5680564 | 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 (8):
- ORPHA:166487Cerebral diseases of vascular origin with epilepsy
- ORPHA:166478Cerebral malformation with epilepsy
- ORPHA:166469Chromosomal anomaly with epilepsy as a major feature
- ORPHA:166463Epilepsy syndrome
- ORPHA:166475Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
- ORPHA:166481Metabolic diseases with epilepsy
- ORPHA:166472Monogenic disease with epilepsy
- ORPHA:166466Neurocutaneous syndrome with 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/183512
- This record as JSON: /data/d/183512.json