ORPHA:254746
Pyruvate metabolism disorder
- 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 | Pyruvate metabolism disorder | |
| fr | Anomalie du métabolisme du pyruvate | |
| de | Pyruvat-Stoffwechselstörung | |
| es | Trastorno del metabolismo del piruvato | |
| it | Difetto del metabolismo del piruvato | |
| nl | Stoornis van pyruvaatmetabolisme | |
| pt | Doença do metabolismo do piruvato | |
| pl | Zaburzenia metabolizmu pirogronianu | |
| cs | Porucha metabolismu pyruvátu | |
| uk | Порушення обміну пірувату | |
| zh | 丙酮酸代谢紊乱 | |
| tr | Piruvat metabolizması bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016789 | E | validated | |
| MONDO | 16789 | E | validated | |
| UMLS | C0268192 | 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:79200Disorder of energy metabolism
rare inborn errors of metabolism; rare genetic diseases
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/254746
- This record as JSON: /data/d/254746.json