Galactose epimerase deficiency   8849004

SNOMED CT code


SNOMED code8849004
nameGalactose epimerase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Uridine diphosphate glucose-4-epimerase deficiency (disorder)
synonyms
  • Galactosaemia - epimerase deficiency
  • Galactosemia - epimerase deficiency
  • Epimerase deficiency
  • Uridine diphosphate galactose-4-epimerase deficiency
  • Galactose epimerase deficiency
  • Uridine diphosphate galactose-4 epimerase deficiency
  • Galactosemia III
  • Uridine diphosphate glucose-4-epimerase deficiency
  • Galactosaemia III
  • GALE (UDP-galactose-4-epimerase) deficiency
  • UDP (uridine diphosphate) galactose-4-epimerase deficiency
  • UDP (uridine diphosphate) glucose-4-epimerase deficiency
parents
children
  • Erythrocyte uridine diphosphate galactose-4-epimerase deficiency   297238008
  • Generalized uridine diphosphate galactose-4-epimerase deficiency   297237003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Specific enzyme deficiency   129456006
            Galactose epimerase deficiency   8849004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of carbohydrate metabolism   20957000
          Disorder of galactose metabolism   237963003
            Galactosemia   190745006
              Galactose epimerase deficiency   8849004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Galactose epimerase deficiency   8849004

ancestors
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