Deficiency of glycerol kinase   124322002

SNOMED CT code


SNOMED code124322002
nameDeficiency of glycerol kinase
statusactive
date introduced2002-01-31
fully specified name(s)Deficiency of glycerol kinase (disorder)
synonyms
  • Deficiency of glycerol kinase
  • Glycerol kinase deficiency
  • GKD - Glycerol kinase deficiency
  • GK1 deficiency
  • Familial hyperglycerolemia
  • Hyperglycerolemia
  • Familial hyperglycerolaemia
  • Hyperglycerolaemia
parents
children
  • Glycerol kinase deficiency - contiguous gene syndrome   297257004  removed: 2023-12-01
  • Glycerol kinase deficiency - isolated   297256008
  • Xp21 deletion syndrome   1295529002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Specific enzyme deficiency   129456006
            Deficiency of transferase   124237001
              Deficiency of glycerol kinase   124322002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of carbohydrate metabolism   20957000
          Disorder of glycerol metabolism   237977000
            Deficiency of glycerol kinase   124322002

ancestors
sorted most to least specific
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