237926007: Glutathione synthase deficiency without 5-oxoprolinuria (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 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 without 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 without 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 without 5-oxoprolinuria
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria

\Functional finding\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glutathione synthetase deficiency\Glutathione synthase deficiency without 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 without 5-oxoprolinuria
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Phagocytic cell dysfunction\Defective phagocytic cell killing\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Glutathione synthetase deficiency\Glutathione synthase deficiency without 5-oxoprolinuria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency\Glutathione synthase deficiency without 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 without 5-oxoprolinuria
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the gamma-glutamyl cycle\Glutathione synthetase deficiency\Glutathione synthase deficiency without 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 without 5-oxoprolinuria	Is a	Deficiency of glutathione synthase	false	Inferred relationship	Some
Glutathione synthase deficiency without 5-oxoprolinuria	Is a	Disorder of the gamma-glutamyl cycle	false	Inferred relationship	Some
Glutathione synthase deficiency without 5-oxoprolinuria	Finding site	Body system structure	false	Inferred relationship	Some
Glutathione synthase deficiency without 5-oxoprolinuria	Occurrence	Congenital	false	Inferred relationship	Some
Glutathione synthase deficiency without 5-oxoprolinuria	Is a	Glutathione synthetase deficiency	true	Inferred relationship	Some
Glutathione synthase deficiency without 5-oxoprolinuria	Finding site	Erythrocyte	true	Inferred relationship	Some	5
Glutathione synthase deficiency without 5-oxoprolinuria	Interprets	Red blood cell count	true	Inferred relationship	Some	2
Glutathione synthase deficiency without 5-oxoprolinuria	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Glutathione synthase deficiency without 5-oxoprolinuria	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	3
Glutathione synthase deficiency without 5-oxoprolinuria	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Glutathione synthase deficiency without 5-oxoprolinuria	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	4
Glutathione synthase deficiency without 5-oxoprolinuria	Has interpretation	Present	true	Inferred relationship	Some	4
Glutathione synthase deficiency without 5-oxoprolinuria	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Glutathione synthase deficiency without 5-oxoprolinuria	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	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
356595011	Erythrocyte glutathione synthase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356596012	Glutathione synthase deficiency without 5-oxoprolinuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626728011	Glutathione synthase deficiency without 5-oxoprolinuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3388271000052112	brist på glutationsyntas utan 5-oxoprolinuri	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)