SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Metabolic disease  75934005

Disorder of carbohydrate metabolism  20957000

Disorder of galactose metabolism  237963003

Galactosemia   190745006

SNOMED CT code


SNOMED code190745006
nameGalactosemia
statusactive
date introduced2002-01-31
fully specified name(s)Galactosemia (disorder)
synonyms
  • Galactosaemia
  • Galactosemia
parentsDisorder of galactose metabolism   237963003
children
  • Deficiency of galactokinase   124302001
  • Deficiency of galactose mutarotase   1187616008
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase   124354006
  • Deficiency of UTP-hexose-1-phosphate uridylyltransferase   124353000  removed: 2003-07-31
  • Galactose epimerase deficiency   8849004
  • Galactosemia NOS   190747003  removed: 2010-01-31
  • Other specified galactosemia   190746007  removed: 2010-01-31
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of carbohydrate metabolism   20957000
          Disorder of galactose metabolism   237963003
            Galactosemia   190745006

ancestors
sorted most to least specific
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