ORPHA:166481
Metabolic diseases with 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 | Metabolic diseases with epilepsy | |
| fr | Maladie métabolique associée à une épilepsie | |
| de | Stoffwechselstörung mit Epilepsie | |
| es | Enfermedades metabólicas con epilepsia | |
| it | Malattia metabolica con epilessia | |
| nl | Stofwisselingsziektes met epilepsie | |
| pt | Doenças metabólicas com epilepsia | |
| pl | Choroba metaboliczna z padaczką | |
| cs | Metabolické nemoci s epilepsií | |
| uk | Метаболічні захворювання з епілепсією | |
| zh | 代谢性疾病伴癫痫 | |
| tr | Epilepsi ile seyreden metabolik hastalıklar |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15656 | E | validated | |
| UMLS | C1299598 | 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 (2):
- ORPHA:101998Rare epilepsy
rare neurological diseases - ORPHA:183512Rare genetic epilepsy
rare genetic diseases
Children (9):
- ORPHA:225689Amino acid or protein metabolism disease with epilepsy
- ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
- ORPHA:225696Energy metabolism disorder with epilepsy
- ORPHA:225681Lysosomal disease with epilepsy
- ORPHA:225707Metabolic neurotransmission anomaly with epilepsy
- ORPHA:225692Metal transport or utilization disorder with epilepsy
- ORPHA:225713Other metabolic disease with epilepsy
- ORPHA:225686Peroxisomal disease with epilepsy
- ORPHA:225710Sterol metabolism disorder 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/166481
- This record as JSON: /data/d/166481.json