lactate dehydrogenase deficiency

Preferred Label : lactate dehydrogenase deficiency;

MeSH synonym : lactate dehydrogenase subunit deficiencies; ldh deficiency; deficiency of lactate dehydrogenase;

Is substance : O;

Details

Origin ID

C580233;

UMLS CUI

C0342769;

Currated CISMeF NLP mapping
- Glycogen storage disease XI [OMIM Phenotype]
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ORDO Disease]
- Glycogen storage disease due to lactate dehydrogenase deficiency [ORDO Disease]
- Glycogen storage disease due to lactate dehydrogenase deficiency [ICD-11 More detail]
- Lactate dehydrogenase deficiency [ICD-11 Sub-sub category]
- Lactate dehydrogenase deficiency (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- L-Lactate dehydrogenase [MeSH Descriptor]
- carbohydrate metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- lactate dehydrogenase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of L-lactate dehydrogenase (disorder) [SNOMED CT concept]
- Glycogen storage disease due to lactate dehydrogenase deficiency [ORDO Disease]
- Glycogen storage disease due to lactate dehydrogenase deficiency [ICD-11 More detail]
- Lactate dehydrogenase deficiency [ICD-11 Sub-sub category]
- Lactate dehydrogenase deficiency (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Deficiency of L-lactate dehydrogenase (disorder) [SNOMED CT concept]
- Lactate dehydrogenase b deficiency [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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