Glutathione synthetase deficiency   234589002

SNOMED CT code


SNOMED code234589002
nameGlutathione synthetase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Glutathione synthetase deficiency (disorder)
synonyms
  • Glutathione synthetase deficiency
  • Pyroglutamicaciduria
attributes - group5
Finding siteErythrocyte   41898006
attributes - group2
InterpretsRed blood cell count   14089001
Has interpretationBelow reference range   281300000
attributes - group3
InterpretsMeasurement of total hemoglobin concentration   441689006
Has interpretationBelow reference range   281300000
attributes - group4
InterpretsHemolysis   404227002
Has interpretationPresent   52101004
attributes - group1
Pathological processAbnormal immune process   769247005
Finding siteImmune system structure   116003000
parents
  • Defective phagocytic cell killing   234585008
  • Qualitative abnormality of granulocyte   319171004
  • Hereditary hemolytic anemia   38911009
  • Disorder of immune structure   414030009
  • Hereditary white blood cell disorder   414395005
  • Autosomal recessive hereditary disorder   85995004
  • Disorder of the gamma-glutamyl cycle   9128006
children
  • Glutathione synthase deficiency with 5-oxoprolinuria   39112005
  • Glutathione synthase deficiency without 5-oxoprolinuria   237926007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of immune function   414029004
        Immunodeficiency disorder   234532001
          Primary immune deficiency disorder   58606001
            Phagocytic cell defect   234573000
              Phagocytic cell dysfunction   302874002
                Defective phagocytic cell killing   234585008
                  Glutathione synthetase deficiency   234589002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of blood, lymphatics and immune system   299691001
      Disorder of cellular component of blood   414022008
        White blood cell disorder   54097007
          Qualitative abnormality of granulocyte   319171004
            Glutathione synthetase deficiency   234589002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Red blood cell disorder   38292009
          Hereditary red blood cell disorder   414394009
            Hereditary hemolytic anemia   38911009
              Glutathione synthetase deficiency   234589002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of immune structure   414030009
          Glutathione synthetase deficiency   234589002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of blood, lymphatics and immune system   299691001
      Disorder of cellular component of blood   414022008
        White blood cell disorder   54097007
          Hereditary white blood cell disorder   414395005
            Glutathione synthetase deficiency   234589002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Glutathione synthetase deficiency   234589002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of organic acid metabolism   116021002
          Disorder of amino acid metabolism   44779003
            Disorder of amino acid and organic acid metabolism   237911005
              Disorder of the gamma-glutamyl cycle   9128006
                Glutathione synthetase deficiency   234589002

ancestors
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