COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation   1220574003

SNOMED CT code


SNOMED code1220574003
nameCOG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation
statusactive
date introduced2022-05-31
fully specified name(s)Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)
synonyms
  • Component of oligomeric golgi complex 6-congenital disorder of glycosylation
  • Congenital disorder of glycosylation type 2l
  • COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation
  • Congenital disorder of glycosylation type IIL
attributes - group1
OccurrenceCongenital   255399007
attributes - group2
Finding siteNervous system structure   25087005
parents
  • Inherited metabolic disorder of nervous system   128190004
  • 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
          Inherited metabolic disorder of nervous system   128190004
            COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation   1220574003

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
                COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation   1220574003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation   1220574003

ancestors
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