Solute carrier family 35 member A2 congenital disorder of glycosylation   771516000

SNOMED CT code


SNOMED code771516000
nameSolute carrier family 35 member A2 congenital disorder of glycosylation
statusactive
date introduced2019-01-31
fully specified name(s)Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
synonyms
  • SLC35A2-CDG - solute carrier family 35 member A2 congenital disorder of glycosylation
  • Congenital disorder of glycosylation type 2m
  • Congenital disorder of glycosylation type IIm
  • Solute carrier family 35 member A2 congenital disorder of glycosylation
  • CDG2M - congenital disorder of glycosylation type 2m
attributes - group1
Finding siteBrain structure   12738006
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
parents
  • Developmental and epileptic encephalopathy   1275631007
  • Inherited metabolic disorder of nervous system   128190004
  • X-linked hereditary disease   128430005
  • Carbohydrate-deficient glycoprotein syndrome type II   277894008
  • Developmental hereditary disorder   363070008
  • Metabolic encephalopathy   50122000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Neurodevelopmental disorder   700364009
          Developmental and epileptic encephalopathy   1275631007
            Solute carrier family 35 member A2 congenital disorder of glycosylation   771516000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Solute carrier family 35 member A2 congenital disorder of glycosylation   771516000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              Solute carrier family 35 member A2 congenital disorder of glycosylation   771516000

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
                Solute carrier family 35 member A2 congenital disorder of glycosylation   771516000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Solute carrier family 35 member A2 congenital disorder of glycosylation   771516000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic encephalopathy   50122000
          Solute carrier family 35 member A2 congenital disorder of glycosylation   771516000

ancestors
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