Carbohydrate-deficient glycoprotein syndrome type I   277893002

SNOMED CT code


SNOMED code277893002
nameCarbohydrate-deficient glycoprotein syndrome type I
statusactive
date introduced2002-01-31
fully specified name(s)Carbohydrate-deficient glycoprotein syndrome type I (disorder)
synonyms
  • Carbohydrate-deficient glycoprotein syndrome type I
  • CDG - Carbohydrate-deficient glycoprotein syndrome type I
attributes - group1
OccurrenceCongenital   255399007
parentsCarbohydrate-deficient glycoprotein syndrome   238049009
children
  • ALG1 congenital disorder of glycosylation   720941007
  • ALG12-congenital disorder of glycosylation   711155008
  • ALG3 congenital disorder of glycosylation   720976009
  • ALG8 congenital disorder of glycosylation   720977000
  • ALG9 congenital disorder of glycosylation   720978005
  • CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation   1237417007
  • Carbohydrate deficient glycoprotein syndrome type 1m   718712005
  • Carbohydrate deficient glycoprotein syndrome type 1o   725044000
  • Congenital disorder of glycosylation type 1c   709412006
  • Congenital disorder of glycosylation type 1e   725078006
  • Congenital disorder of glycosylation type 1f   724096007
  • Congenital disorder of glycosylation type 1i   897592003
  • Congenital disorder of glycosylation type 1j   725079003
  • Congenital disorder of glycosylation type 1n   733084000
  • Congenital disorder of glycosylation type 1p   733085004
  • Congenital disorder of glycosylation type 1q   733601006
  • Congenital disorder of glycosylation type 1r   733083006
  • Congenital disorder of glycosylation type 1s   733451007
  • Congenital disorder of glycosylation type 1w   733111000
  • Congenital disorder of glycosylation type 1x   733112007
  • Congenital disorder of glycosylation type 1y   733115009
  • Congenital disorder of glycosylation type Ia   459063003
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy   782772000
  • Mannosephosphate isomerase congenital disorder of glycosylation   1231141008
  • PGM1-related congenital disorder of glycosylation   783717008
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of glycoprotein metabolism   238045003
            Carbohydrate-deficient glycoprotein syndrome   238049009
              Carbohydrate-deficient glycoprotein syndrome type I   277893002

ancestors
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