234589002: Glutathione synthetase deficiency (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
\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
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency
\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
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\White blood cell disorder\Qualitative abnormality of granulocyte\Glutathione synthetase deficiency
\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
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency

\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
\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
\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
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Glutathione synthetase deficiency
\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
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Glutathione synthetase deficiency
\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

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

\Functional finding\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency

\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
\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
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glutathione synthetase deficiency
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency
\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
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Glutathione synthetase deficiency
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency
\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
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Glutathione synthetase deficiency
\Disease\Disorder of cellular component of blood\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency
\Disease\Disorder of cellular component of blood\White blood cell disorder\Qualitative abnormality of granulocyte\Glutathione synthetase deficiency
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Glutathione synthetase deficiency
\Disease\Disorder of body system\Disorder of immune structure\Glutathione synthetase deficiency
\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
\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
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Glutathione synthetase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Glutathione synthetase deficiency
\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

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

Descriptions:

Id Description Lang Type Status Case? Module

2971324017 Glutathione synthetase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2971375019 Glutathione synthetase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5197619017 Pyroglutamicaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5197620011 A rare disorder characterised by haemolytic anaemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Several mutations have been identified in the gene encoding glutathione synthetase, localised to chromosome 20q11.2. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5197621010 A rare disorder characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Several mutations have been identified in the gene encoding glutathione synthetase, localized to chromosome 20q11.2. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

351501011 Gluthathione synthetase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

622930015 Gluthathione synthetase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

622930015 Gluthathione synthetase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2971324017 Glutathione synthetase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971324017 Glutathione synthetase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2971375019 Glutathione synthetase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971375019 Glutathione synthetase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5197619017 Pyroglutamicaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5197620011 A rare disorder characterised by haemolytic anaemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Several mutations have been identified in the gene encoding glutathione synthetase, localised to chromosome 20q11.2. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5197621010 A rare disorder characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Several mutations have been identified in the gene encoding glutathione synthetase, localized to chromosome 20q11.2. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3393721001000118 Glutathionsynthetase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

970461000172119 déficit en glutathion synthétase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

951181000172112 acidurie pyroglutamique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

970461000172119 déficit en glutathion synthétase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3393721001000118 Glutathionsynthetase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glutathione synthetase deficiency	Is a	Defective phagocytic cell killing (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthetase deficiency	Finding site	Leucocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthetase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthetase deficiency	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glutathione synthetase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthetase deficiency	Associated morphology	White blood cell abnormality (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthetase deficiency	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthetase deficiency	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthetase deficiency	Is a	Qualitative abnormality of granulocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthetase deficiency	Is a	Disorder of immune structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthetase deficiency	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthetase deficiency	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Glutathione synthetase deficiency	Is a	Hereditary hemolytic anemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthetase deficiency	Is a	Hereditary white blood cell disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthetase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthetase deficiency	Is a	Disorder of the gamma-glutamyl cycle (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthetase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Glutathione synthetase deficiency	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Glutathione synthetase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Glutathione synthetase deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Glutathione synthetase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Glutathione synthetase deficiency	Interprets	Haemolysis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Glutathione synthetase deficiency	Has interpretation	Present (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Glutathione synthetase deficiency	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
Glutathione synthase deficiency without 5-oxoprolinuria	Is a	True	Glutathione synthetase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutathione synthase deficiency with 5-oxoprolinuria	Is a	True	Glutathione synthetase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2971324017	Glutathione synthetase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2971375019	Glutathione synthetase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5197619017	Pyroglutamicaciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5197620011	A rare disorder characterised by haemolytic anaemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Several mutations have been identified in the gene encoding glutathione synthetase, localised to chromosome 20q11.2. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5197621010	A rare disorder characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Several mutations have been identified in the gene encoding glutathione synthetase, localized to chromosome 20q11.2. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
351501011	Gluthathione synthetase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
622930015	Gluthathione synthetase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
622930015	Gluthathione synthetase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2971324017	Glutathione synthetase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971324017	Glutathione synthetase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2971375019	Glutathione synthetase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971375019	Glutathione synthetase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5197619017	Pyroglutamicaciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5197620011	A rare disorder characterised by haemolytic anaemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Several mutations have been identified in the gene encoding glutathione synthetase, localised to chromosome 20q11.2. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5197621010	A rare disorder characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Several mutations have been identified in the gene encoding glutathione synthetase, localized to chromosome 20q11.2. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3393721001000118	Glutathionsynthetase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
970461000172119	déficit en glutathion synthétase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
951181000172112	acidurie pyroglutamique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
970461000172119	déficit en glutathion synthétase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393721001000118	Glutathionsynthetase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module