SLC35A1 congenital disorder of glycosylation   723624008

SNOMED CT code


SNOMED code723624008
nameSLC35A1 congenital disorder of glycosylation
statusactive
date introduced2017-07-31
fully specified name(s)Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)
synonyms
  • Solute carrier family 35 member A1 congenital disorder of glycosylation
  • SLC35A1 congenital disorder of glycosylation
  • CMP-sialic acid transporter deficiency
  • Carbohydrate deficient glycoprotein syndrome type IIf
  • Congenital disorder of glycosylation type 2f
  • Congenital disorder of glycosylation type IIf
  • SLC35A1 (solute carrier family 35 member A1) congenital disorder of glycosylation
attributes - group1
OccurrenceCongenital   255399007
parents
  • Carbohydrate-deficient glycoprotein syndrome   238049009
  • Disorder of pyrimidine metabolism   85444005
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
              SLC35A1 congenital disorder of glycosylation   723624008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of pyrimidine metabolism   85444005
          SLC35A1 congenital disorder of glycosylation   723624008

ancestors
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