Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

Preferred Label : Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency;

NCIt synonyms : LCHAD Deficiency;

NCIt definition : An inherited condition caused by mutation(s) in the HADHA gene, encoding trifunctional enzyme subunit alpha, mitochondrial. It is characterized by hypoglycemia, hypotonia, neuropathy, cardiomyopathy, pigmentary retinopathy and may be associated with sudden death.;

NCI Metathesaurus CUI : CL512876;

Details

Origin ID

C129929;

UMLS CUI

C3711645;

Automatic exact mappings (from CISMeF team)
- Long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency [MedDRA LLT]
Currated CISMeF NLP mapping
- Decreased 3-hydroxyacyl-CoA dehydrogenase level [HPO term]
- LCHAD deficiency [MedDRA LLT]
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency [OMIM Phenotype]
See also inter- (CISMeF)
- Mitochondrial trifunctional protein deficiency (disorder) [SNOMED CT concept]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- LCHAD deficiency [MedDRA LLT]
- Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency [MedDRA LLT]
- Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency [OMIM Phenotype]
- trifunctional protein deficiency, type 1 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- HADHA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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