OMOP Concept 4121287
Glutathione synthetase deficiency
StandardConditionSNOMED234589002Disorder
Maps from
1
Descendants
2
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Glutathione synthetase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 234589002 | Glutathione synthetase deficiency | Non-standard |
Synonyms
Alternative names recorded for Glutathione synthetase deficiency across source vocabularies.
- deficiencia de glutatión sintasa
- deficiencia de glutatión sintasa (trastorno)
- deficiencia de glutatión sintetasa
- Glutathione synthetase deficiency (disorder)
- Pyroglutamicaciduria
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(54)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Defective phagocytic cell killing
- 1Disorder of immune structure
- 1Disorder of the gamma-glutamyl cycle
- 1Hereditary hemolytic anemia
- 1Hereditary white blood cell disorder
- 1Qualitative abnormality of granulocyte
- 2Autosomal hereditary disorder
- 2Disorder of amino acid and organic acid metabolism
- 2Disorder of body system
- 2Hemoglobin below reference range
- 2Hemolytic anemia
- 2Hereditary disorder of cellular element of blood
- 2Hereditary disorder of immune system
- 2Hereditary red blood cell disorder
- 2Phagocytic cell dysfunction
- 2White blood cell disorder
- 3Anemia
- 3Disease
- 3Disorder of amino acid metabolism
- 3Disorder of cellular component of blood
- 3Disorder of immune function
- 3Hemoglobin level outside reference range
- 3Hemolytic disorder
- 3Hereditary disease
Narrower concepts
(2)Included automatically when you query with descendants.
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