lactic acidosis, congenital infantile, due to LAD deficiency

Preferred Label : lactic acidosis, congenital infantile, due to LAD deficiency;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0574695;

UMLS CUI

C3492932;

Currated CISMeF NLP mapping
- Dihydrolipoamide dehydrogenase deficiency [OMIM Phenotype]
- Dihydrolipoamide dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Pyruvate dehydrogenase E3 deficiency [ORDO Disease]
- dihydrolipoamide dehydrogenase deficiency [SNOMED Notion]
- dihydrolipoamide dehydrogenase deficiency [Disease (Nov.)]
Related record
- lactic acidosis, congenital infantile, due to LAD deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]