ORPHA:309127
3-hydroxyacyl-CoA dehydrogenase deficiency
- Type
- Clinical group
- 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 | 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| fr | Déficit en 3-hydroxyacyl-CoA déshydrogénase des acides gras | |
| de | 3-Hydroxyacyl-CoA-Dehydrogenase-Mangel | |
| es | Deficiencia de 3-hidroxiacil CoA deshidrogenasa | |
| it | Deficit di 3-idrossiacil-CoA deidrogenasi | |
| nl | 3-hydroxyacyl-CoA-dehydrogenasedeficiëntie | |
| pt | Défice de 3-hidroxiacil-CoA desidrogenase | |
| pl | Niedobór dehydrogenazy 3 hydroksyacylo-CoA | |
| cs | Deficit 3-hydroxyacyl-CoA-dehydrogenázy | |
| uk | Дефіцит 3-гідроксиацил-КоА-дегідрогенази | |
| zh | 3-羟基酰基-CoA脱氢酶缺乏症 | |
| tr | 3-hidroksiasil-CoA dehidrojenaz eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017715 | E | validated | |
| MONDO | 17715 | E | validated | |
| MeSH | C535310 | E | validated | |
| UMLS | C1291230 | 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:309115Disorder of fatty acid oxidation and ketogenesis
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/309127
- This record as JSON: /data/d/309127.json