Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase   124354006

SNOMED CT code


SNOMED code124354006
nameDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
statusactive
date introduced2002-01-31
fully specified name(s)Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder)
synonyms
  • Deficiency of uridyl transferase
  • Deficiency of hexose-1-phosphate uridylyltransferase
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
  • GALT deficiency
  • Classical galactosemia
  • Deficiency of galactose-1-phosphate uridyl transferase
  • Transferase deficiency galactosemia
  • Transferase deficiency galactosaemia
  • Classical galactosaemia
  • Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase
parents
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 UDPglucose-hexose-1-phosphate uridylyltransferase   124354006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of carbohydrate metabolism   20957000
          Disorder of galactose metabolism   237963003
            Galactosemia   190745006
              Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase   124354006

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