Glutathione synthase deficiency with 5-oxoprolinuria 39112005

SNOMED CT code

SNOMED code

39112005

name

Glutathione synthase deficiency with 5-oxoprolinuria

status

active

date introduced

2002-01-31

fully specified name(s)

Glutathione synthase deficiency with 5-oxoprolinuria (disorder)

synonyms

Pyroglutamic acidaemia
Pyroglutamic acidemia
Glutathione synthase deficiency with 5-oxoprolinuria
5-Oxoprolinuria
Pyroglutamic aciduria

attributes - group5

Finding site

Erythrocyte 41898006

attributes - group2

Interprets

Red blood cell count 14089001

Has interpretation

Below reference range 281300000

attributes - group3

Interprets

Measurement of total hemoglobin concentration 441689006

Has interpretation

Below reference range 281300000

attributes - group4

Interprets

Hemolysis 404227002

Has interpretation

Present 52101004

attributes - group1

Finding site

Immune system structure 116003000

Pathological process

Abnormal immune process 769247005

parents

Glutathione synthetase deficiency 234589002

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Disorder of immune structure 414030009
Glutathione synthetase deficiency 234589002
Glutathione synthase deficiency with 5-oxoprolinuria 39112005

ancestors

sorted most to least specific

Glutathione synthetase deficiency 234589002
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
Phagocytic cell dysfunction 302874002
White blood cell disorder 54097007
Hemoglobin below reference range 165397008
Hereditary disorder of immune system 363138005
Autosomal hereditary disorder 1899006
Disorder of amino acid and organic acid metabolism 237911005
Hereditary red blood cell disorder 414394009
Hemolytic anemia 61261009
Phagocytic cell defect 234573000
Hemoglobin level outside reference range 441793007
Disorder of amino acid metabolism 44779003
Red blood cell disorder 38292009
Hemolytic disorder 128086004
Hereditary disorder of cellular element of blood 414393003
Red blood cell count below reference range 165423001
Anemia 271737000
Primary immune deficiency disorder 58606001
Disorder of cellular component of blood 414022008
Hemoglobin finding 250220000
Hereditary disorder by system 363137000
Disorder of organic acid metabolism 116021002
Hematology test outside reference range 34641000087106
Red blood cell count outside reference range 165427000
Hemolysis 73320003
Cytopenia 50820005
Immunodeficiency disorder 234532001
Hematopoietic system finding 106200001
Disorder of body system 362965005
Hereditary disease 32895009
Metabolic disease 75934005
Measurement finding below reference range 442686002
Protein level - finding 365799007
Red blood cell count - finding 365625004
Red blood cell destruction finding 127403002
Blood cell count outside reference range 762656009
Disorder of immune function 414029004
Finding of blood, lymphatics and immune system 299691001
Genetic disease 782964007
Measurement finding outside reference range 442096005
Finding of substance level 785671009
Functional finding 118228005
Disease 64572001
Measurement finding 118245000
Evaluation finding 441742003
Procedure related finding 127325009
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Disorder of body system 362965005

Disorder of immune structure 414030009

Glutathione synthetase deficiency 234589002

Glutathione synthase deficiency with 5-oxoprolinuria 39112005

SNOMED CT code