lactic acidosis, congenital infantile, due to LAD deficiency

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

MeSH synonym : lipoamide dehydrogenase deficiency, lactic acidosis due to; dihydrolipoamide dehydrogenase deficiency; DLD deficiency; maple syrup urine disease, type III;

Details

Origin ID

C573012;

UMLS CUI

C3492932;

Automatic exact mappings (from CISMeF team)
- Maple syrup urine disease, type ia [OMIM Phenotype]
- Pyruvate dehydrogenase complex E3 subunit deficiency [ICD-11 More detail]
- maple syrup urine disease [DO Concept]
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 [Disease (Nov.)]
- dihydrolipoamide dehydrogenase deficiency [SNOMED Notion]
MeSH term(s) associated for indexing
- acidosis, lactic [MeSH Descriptor]
- maple syrup urine disease [MeSH Descriptor]
Record concept(s)
- lactic acidosis, congenital infantile, due to LAD deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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