Glycerol kinase deficiency

Preferred Label : Glycerol kinase deficiency;

ICD-11 definition : This is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult.;

ICD-11 synonym : Hyperglycerolaemia;

Details

Origin ID

703589069;

UMLS CUI

C0268418;

Currated CISMeF NLP mapping
- Deficiency of glycerol kinase (disorder) [SNOMED CT concept]
- Glycerol kinase deficiency [OMIM Phenotype]
- Glycerol kinase deficiency [ORDO Disease]
- Glycerol kinase deficiency (disorder) [Inactive SNOMED CT concept]
- Hyperglycerolemia [NCIt concept]
- Hyperglycerolemia [HPO term]
- glycerol kinase deficiency [DO Concept]
- glycerol kinase deficiency [SNOMED Notion]
- glycerol kinase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of glycerol kinase (disorder) [SNOMED CT concept]
- Glycerol kinase deficiency [OMIM Phenotype]
- Glycerol kinase deficiency [ORDO Disease]
- Hyperglycerolemia [HPO term]
- Hyperglycerolemia [NCIt concept]
- Hyperglycerolemia [MeSH Supplementary Concept]
- Isolated glycerol kinase deficiency [ORDO Disease]
- glycerol kinase deficiency [Disease (Nov.)]
- glycerol kinase deficiency [SNOMED Notion]
Validated automatic mappings to BTNT
- Glycerol kinase deficiency - isolated (disorder) [SNOMED CT concept]
- Isolated glycerol kinase deficiency [ORDO Disease]

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