SLC39A8 congenital disorder of glycosylation   1187171005

SNOMED CT code


SNOMED code1187171005
nameSLC39A8 congenital disorder of glycosylation
statusactive
date introduced2021-11-30
fully specified name(s)Solute carrier family 39 member 8 congenital disorder of glycosylation (disorder)
synonyms
  • Solute carrier family 39 member 8 congenital disorder of glycosylation
  • SLC39A8-CDG - solute carrier family 39 member 8 congenital disorder of glycosylation
  • Congenital disorder of glycosylation type 2n
  • SLC39A8 congenital disorder of glycosylation
  • Congenital disorder of glycosylation type IIn
  • Carbohydrate deficient glycoprotein syndrome type IIn
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
                SLC39A8 congenital disorder of glycosylation   1187171005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              SLC39A8 congenital disorder of glycosylation   1187171005

ancestors
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