39112005: Glutathione synthase deficiency with 5-oxoprolinuria (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\White blood cell disorder\Qualitative abnormality of granulocyte\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria

\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria

\Functional finding\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Phagocytic cell dysfunction\Defective phagocytic cell killing (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of cellular component of blood\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of cellular component of blood\White blood cell disorder\Qualitative abnormality of granulocyte\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of body system\Disorder of immune structure\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria
\Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of the gamma-glutamyl cycle (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency with 5-oxoprolinuria

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glutathione synthase deficiency with 5-oxoprolinuria	Is a	Disorder of the gamma-glutamyl cycle (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthase deficiency with 5-oxoprolinuria	Is a	Enzymopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthase deficiency with 5-oxoprolinuria	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthase deficiency with 5-oxoprolinuria	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthase deficiency with 5-oxoprolinuria	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glutathione synthase deficiency with 5-oxoprolinuria	Is a	Inborn error of metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthase deficiency with 5-oxoprolinuria	Is a	Glutathione synthetase deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthase deficiency with 5-oxoprolinuria	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Glutathione synthase deficiency with 5-oxoprolinuria	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Glutathione synthase deficiency with 5-oxoprolinuria	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Glutathione synthase deficiency with 5-oxoprolinuria	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Glutathione synthase deficiency with 5-oxoprolinuria	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Glutathione synthase deficiency with 5-oxoprolinuria	Interprets	Haemolysis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Glutathione synthase deficiency with 5-oxoprolinuria	Has interpretation	Present (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Glutathione synthase deficiency with 5-oxoprolinuria	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glutathione synthase deficiency with 5-oxoprolinuria	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
65614010	Glutathione synthase deficiency with 5-oxoprolinuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
65615011	5-Oxoprolinuria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
65616012	Pyroglutamic aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
775506019	Glutathione synthase deficiency with 5-oxoprolinuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1216587016	Pyroglutamic acidaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1218078012	Pyroglutamic acidemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
65614010	Glutathione synthase deficiency with 5-oxoprolinuria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
65614010	Glutathione synthase deficiency with 5-oxoprolinuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
65615011	5-Oxoprolinuria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
65616012	Pyroglutamic aciduria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
65616012	Pyroglutamic aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
775506019	Glutathione synthase deficiency with 5-oxoprolinuria (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
775506019	Glutathione synthase deficiency with 5-oxoprolinuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1216587016	Pyroglutamic acidaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216587016	Pyroglutamic acidaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1218078012	Pyroglutamic acidemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1218078012	Pyroglutamic acidemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6239751000241110	déficit en glutathion synthétase avec 5-oxoprolinurie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6239761000241113	acidurie pyroglutamique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6239751000241110	déficit en glutathion synthétase avec 5-oxoprolinurie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6239761000241113	acidurie pyroglutamique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module