TMEM199 congenital disorder of glycosylation   1208738002

SNOMED CT code


SNOMED code1208738002
nameTMEM199 congenital disorder of glycosylation
statusactive
date introduced2022-03-31
fully specified name(s)Transmembrane protein 199 congenital disorder of glycosylation (disorder)
synonyms
  • Transmembrane protein 199 congenital disorder of glycosylation
  • TMEM199 congenital disorder of glycosylation
  • Congenital disorder of glycosylation type IIp
  • TMEM199-CDG - transmembrane protein 199 congenital disorder of glycosylation
  • CDG (congenital disorder of glycosylation) syndrome type IIp
  • Carbohydrate deficient glycoprotein syndrome type IIp
attributes - group2
OccurrenceCongenital   255399007
attributes - group1
InterpretsSerum total cholesterol measurement   412808005
Has interpretationAbove reference range   281302008
parents
  • Hypercholesterolemia   13644009
  • 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
      Metabolic disease   75934005
        Disorder of lipoprotein AND/OR lipid metabolism   48286001
          Disorder of lipoprotein storage and metabolism   238037008
            Hyperlipidemia   55822004
              Hypercholesterolemia   13644009
                TMEM199 congenital disorder of glycosylation   1208738002

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
                TMEM199 congenital disorder of glycosylation   1208738002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              TMEM199 congenital disorder of glycosylation   1208738002

ancestors
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cpt crosswalks

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