3-hydroxyacyl-coa dehydrogenase deficiency

Preferred Label : 3-hydroxyacyl-coa dehydrogenase deficiency;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0529771;

UMLS CUI

C1291230;

Automatic exact mappings (from CISMeF team)
- 3-hydroxyacyl-coa dehydrogenase deficiency [Artificial nutrition thesaurus concept]
- Hsd10 mitochondrial disease [OMIM Phenotype]
Currated CISMeF NLP mapping
- 3-hydroxyacyl-CoA dehydrogenase deficiencies [ICD-11 More detail]
- 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- 3-hydroxyacyl-coa dehydrogenase deficiency [OMIM Phenotype]
- Deficiency of 3-hydroxyacyl-CoA dehydrogenase (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Feeding difficulties [HPO term]
- Hypoglycemia, hypoketotic [HPO term]
Related record
- 3-hydroxyacyl-coa dehydrogenase deficiency [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-hydroxyacyl-CoA dehydrogenase deficiencies [ICD-11 More detail]
- 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- 3-hydroxyacyl-coa dehydrogenase deficiency [OMIM Phenotype]
- Deficiency of 3-hydroxyacyl-CoA dehydrogenase (disorder) [SNOMED CT concept]
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency [ORDO Disease]