ORPHA:225710
Sterol metabolism disorder 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 | Sterol metabolism disorder with epilepsy | |
| fr | Anomalie du métabolisme des stérols avec épilepsie | |
| de | Sterol-Stoffwechselstörung mit Epilepsie | |
| es | Anomalía del metabolismo de los esteroles con epilepsia | |
| it | Disturbo del metabolismo degli steroli associata a epilessia | |
| nl | Stoornis van sterolmetabolisme met epilepsie | |
| pt | Doença do metabolismo dos esteróis com epilepsia | |
| pl | Zaburzenie metabolizmu steroli z padaczką | |
| cs | Porucha metabolismu sterolů s epilepsií | |
| uk | Порушення обміну стеролів з епілепсією | |
| zh | 固醇代谢障碍伴癫痫 | |
| tr | Epilepsi ile seyreden steroid metabolizması bozukluğu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16405 | E | validated | |
| UMLS | C5680902 | 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:166481Metabolic diseases with epilepsy
rare genetic diseases; rare neurological diseases
Children (1):
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/225710
- This record as JSON: /data/d/225710.json