3-hydroxyacyl-coa dehydrogenase deficiency

Preferred Label : 3-hydroxyacyl-coa dehydrogenase deficiency;

MeSH synonym : hadh deficiency; 3-Alpha-Hydroxyacyl-Coenzyme A dehydrogenase deficiency; 3-Hydroxyacyl-Coenzyme A dehydrogenase deficiency; SCHAD deficiency; HADHSC deficiency; L-3-Alpha-Hydroxyacyl-CoA dehydrogenase, short chain, deficiency; M-SCHAD deficiency; HAD deficiency;

Details

Origin ID

C535310;

UMLS CUI

C1291230;

Automatic exact mappings (from CISMeF team)
- 3-hydroxyacyl-coa dehydrogenase deficiency [Artificial nutrition thesaurus concept]
- Hsd10 mitochondrial disease [OMIM Phenotype]
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
CISMeF manual mappings
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency [ORDO Disease]
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]
MeSH term(s) associated for indexing
- 3-Hydroxyacyl CoA dehydrogenases [MeSH Descriptor]
- metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- 3-hydroxyacyl-coa dehydrogenase deficiency [MeSH concept]
See also inter- (CISMeF)
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
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]
Validated automatic mappings to BTNT
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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