Mevalonate kinase deficiency

Preferred Label : Mevalonate kinase deficiency;

ICD-11 definition : This refers to a deficiency enzyme that in humans is encoded by the MVK gene. This is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis;

Details

Origin ID

772056052;

UMLS CUI

C0342731;

Currated CISMeF NLP mapping
- Deficiency of mevalonate kinase (disorder) [SNOMED CT concept]
- Mevalonate Kinase Deficiency [NCIt concept]
- Mevalonate kinase deficiency [MedDRA Preferred Term]
- Mevalonate kinase deficiency [ORDO Disease]
- mevalonate kinase deficiency [MeSH Descriptor]
- mevalonate kinase deficiency [MeSH concept]
- mevalonate kinase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of mevalonate kinase (disorder) [SNOMED CT concept]
- Mevalonate Kinase Deficiency [NCIt concept]
- Mevalonate kinase deficiency [MedDRA Preferred Term]
- Mevalonate kinase deficiency [ORDO Disease]
- mevalonate kinase deficiency [MeSH Descriptor]
- mevalonate kinase deficiency [MeSH concept]
- mevalonate kinase deficiency [Disease (Nov.)]
Validated automatic mappings to BTNT
- Mevalonic aciduria [ORDO Disease]
- Mevalonic aciduria [OMIM Phenotype]
- Mevalonic aciduria [MedDRA Preferred Term]
- Mevalonic aciduria (disorder) [SNOMED CT concept]
- mevalonic aciduria [DO Concept]
- mevalonic aciduria [MeSH concept]

Keyword's position in hierarchy(ies) :

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