Hyperglycerolemia

Preferred Label : Hyperglycerolemia;

NCIt synonyms : Glycerol Kinase Deficiency; GKD;

NCIt definition : A rare, X-linked recessive genetic disorder of glycerol metabolism caused by mutations or deletion in the GK gene. It results in deficiency of the enzyme glycerol kinase. It is characterized by elevated plasma and urine glycerol levels and neurometabolic manifestations which can cause life-threatening metabolic crisis in children.;

Details

Origin ID

C124845;

UMLS CUI

C0268418;

Automatic exact mappings (from CISMeF team)
- glycerol kinase [ORDO Gene]
Currated CISMeF NLP mapping
- Deficiency of glycerol kinase (disorder) [SNOMED CT concept]
- Glycerol kinase deficiency [ORDO Disease]
- Glycerol kinase deficiency [OMIM Phenotype]
- Glycerol kinase deficiency [ICD-11 More detail]
- Glycerol kinase deficiency (disorder) [Inactive SNOMED CT concept]
- Hyperglycerolemia [HPO term]
- Hyperglycerolemia [MeSH concept]
- Hyperglycerolemia [MeSH Supplementary Concept]
- Isolated glycerol kinase deficiency [ORDO Disease]
- 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 [ORDO Disease]
- Glycerol kinase deficiency [OMIM Phenotype]
- Glycerol kinase deficiency [ICD-11 More detail]
- Hyperglycerolemia [HPO term]
- Hyperglycerolemia [MeSH Supplementary Concept]
- Isolated glycerol kinase deficiency [ORDO Disease]
- glycerol kinase deficiency [SNOMED Notion]
- glycerol kinase deficiency [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GK Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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