Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Preferred Label : Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency;

ICD-11 definition : Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive inherited condition, marked with hypotonia, hypoketotic hypoglycemia during long fast or infections usually associated with hypertrophic cardiomyopathy before the age of 2. Most patients later develop retinopathy and peripheral neuropathy.;

ICD-11 synonym : LCHAD - [Long chain 3-hydroxyacyl-CoA dehydrogenase] deficiency; LCHAD deficiency;

Details

Origin ID

760613381;

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-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency [OMIM Phenotype]
See also inter- (CISMeF)
- Mitochondrial Trifunctional Protein Deficiency [NCIt concept]
- Mitochondrial trifunctional protein deficiency (disorder) [SNOMED CT concept]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH Supplementary Concept]

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