234589002: Glutathione synthetase deficiency (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)\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.
• \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 haemolytic anaemia\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.
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary haemolytic anaemia\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.
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia\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.
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\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.
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\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.
• \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 haemolytic anaemia\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.
• \Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia\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.
• \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 haemolytic anaemia\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.
• \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 haemolytic anaemia\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.
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Hereditary haemolytic anaemia\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.
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\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.
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Hereditary haemolytic anaemia\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.
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\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.
• \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 haemolytic anaemia\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.
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\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.
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\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.
• \Functional finding\Red blood cell destruction finding\Haemolysis\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia\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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\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.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\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.
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\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.
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Phagocytic cell dysfunction (disorder)\Defective phagocytic cell killing\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.
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\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.
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\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.
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\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.
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\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.
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary haemolytic anaemia\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.
• \Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia\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.
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\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.
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\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.
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\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.
• \Disease\Disorder of body system\Disorder of immune structure (disorder)\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.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\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.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\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.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\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.
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\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.
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the gamma-glutamyl cycle\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.

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
5448981014	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5448982019	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.	en	Definition	Active	Entire term case sensitive (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	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
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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

Back to Start