Enzyme Deficiency

Preferred Label : Enzyme Deficiency;

NCIt related terms : Specific Enzyme Deficiency;

NCIt definition : A finding in which there is a subnormal amount of an enzyme. Enzymes are proteins that are necessary in certain catabolic processes.;

Details

Origin ID

C3492;

UMLS CUI

C0149676;

Automatic exact mappings (from CISMeF team)
- Deficiency of malate dehydrogenase (oxaloacetate-decarboxylating) (disorder) [SNOMED CT concept]
- Specific enzyme deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Specific enzyme deficiency (disorder) [SNOMED CT concept]
- enzyme deficiency [Disease (Nov.)]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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