COG4 congenital disorder of glycosylation   718751000

SNOMED CT code


SNOMED code718751000
nameCOG4 congenital disorder of glycosylation
statusactive
date introduced2017-01-31
fully specified name(s)Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder)
synonyms
  • Carbohydrate deficient glycoprotein syndrome type 2j
  • Carbohydrate deficient glycoprotein syndrome type IIj
  • CDG2J - carbohydrate deficient glycoprotein syndrome type 2J
  • Component of oligomeric golgi complex 4 congenital disorder of glycosylation
  • COG4 (component of oligomeric golgi complex 4) congenital disorder of glycosylation
  • COG4 congenital disorder of glycosylation
attributes - group1
OccurrenceCongenital   255399007
parents
  • Carbohydrate-deficient glycoprotein syndrome type II   277894008
  • Autosomal recessive hereditary disorder   85995004
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 II   277894008
                COG4 congenital disorder of glycosylation   718751000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              COG4 congenital disorder of glycosylation   718751000

ancestors
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