Lactate dehydrogenase deficiency

ICD-11 code : 5C53.01;

Preferred Label : Lactate dehydrogenase deficiency;

ICD-11 definition : This refers to a deficiency in the enzyme present in a wide variety of organisms, including plants and animals. This exist in four distinct enzyme classes. Two of them are cytochrome c-dependent enzymes, each acting on either D-lactate (EC 1.1.2.4) or L-lactate (EC 1.1.2.3). The other two are NAD(P)-dependent enzymes, each acting on either D-lactate (EC 1.1.1.28) or L-lactate (EC 1.1.1.27). This article is about the NAD(P)-dependent L-lactate dehydrogenase.;

Détails

Origin ID

1391506239;

UMLS CUI

C0342769;

Automatic exact mappings (from CISMeF team)
- Deficiency of L-lactate dehydrogenase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Glycogen storage disease due to lactate dehydrogenase deficiency [ORDO Disease]
- Lactate dehydrogenase deficiency (disorder) [SNOMED CT concept]
- lactate dehydrogenase deficiency [MeSH Supplementary Concept]
- lactate dehydrogenase deficiency [MeSH concept]
ICD-10 Mapping
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]
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]
- Lactate dehydrogenase deficiency (disorder) [SNOMED CT concept]
- lactate dehydrogenase deficiency [MeSH concept]
- lactate dehydrogenase deficiency [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Glycogen storage disease XI [OMIM Phenotype]
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ORDO Disease]
- lactate dehydrogenase deficiency type A [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]

Position du mot-clé dans l'(les) arborescence(s) :

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