Congenital disorder of glycosylation type 1n   733084000

SNOMED CT code


SNOMED code733084000
nameCongenital disorder of glycosylation type 1n
statusactive
date introduced2017-07-31
fully specified name(s)Congenital disorder of glycosylation type 1n (disorder)
synonyms
  • RFT1-CDG (congenital disorder of glycosylation)
  • RFT1-congenital disorder of glycosylation
  • Congenital disorder of glycosylation type 1n
  • Carbohydrate deficient glycoprotein syndrome type In
  • Congenital disorder of glycosylation type In
  • Man5GlcNAc2-dolichylpyrophosphate flippase deficiency
attributes - group1
OccurrenceCongenital   255399007
parents
  • Carbohydrate-deficient glycoprotein syndrome type I   277893002
  • 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 I   277893002
                Congenital disorder of glycosylation type 1n   733084000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Congenital disorder of glycosylation type 1n   733084000

ancestors
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