mevalonate kinase deficiency

Preferred Label : mevalonate kinase deficiency;

UMLS semantic type : T047 - Disease or Syndrome; T049 - Cell or Molecular Dysfunction;

Origin ID

M0501212;

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 [ICD-11 More detail]
- Mevalonate kinase deficiency [ORDO Disease]
- Mevalonic aciduria [ORDO Disease]
- mevalonate kinase deficiency [Disease (Nov.)]
- mevalonic aciduria [DO Concept]
MeSH narrower concept(s)
- mevalonic aciduria [MeSH concept]
Related MeSH concept(s)
- hyperimmunoglobulinemia D [MeSH concept]
Related record
- mevalonate kinase deficiency [MeSH Descriptor]
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 [ICD-11 More detail]
- mevalonate kinase deficiency [Disease (Nov.)]
Validated automatic mappings to BTNT
- Mevalonic aciduria [ICD-11 More detail]