OMOP Concept 4192278
Glutathione synthase deficiency with 5-oxoprolinuria
StandardConditionSNOMED39112005Disorder
Maps from
3
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to Glutathione synthase deficiency with 5-oxoprolinuria via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 139377 | Glutathione synthase deficiency with 5-oxoprolinuria | Non-standard |
| MeSH | C536835 | Glutathione synthetase deficiency | Non-standard |
| Nebraska Lexicon | 39112005 | Glutathione synthase deficiency with 5-oxoprolinuria | Non-standard |
Synonyms
Alternative names recorded for Glutathione synthase deficiency with 5-oxoprolinuria across source vocabularies.
- 5 - oxoprolinuria
- 5-Oxoprolinuria
- aciduria piroglutámica
- deficiencia de glutatión sintasa con 5 - oxoprolinuria
- deficiencia de glutatión sintasa con 5 - oxoprolinuria (trastorno)
- Glutathione synthase deficiency with 5-oxoprolinuria (disorder)
- Pyroglutamic acidaemia
- Pyroglutamic acidemia
- Pyroglutamic aciduria
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(55)Roll up to these when you need a wider cohort.
- 1Glutathione synthetase deficiency
- 2Autosomal recessive hereditary disorder
- 2Defective phagocytic cell killing
- 2Disorder of immune structure
- 2Disorder of the gamma-glutamyl cycle
- 2Hereditary hemolytic anemia
- 2Hereditary white blood cell disorder
- 2Qualitative abnormality of granulocyte
- 3Autosomal hereditary disorder
- 3Disorder of amino acid and organic acid metabolism
- 3Disorder of body system
- 3Hemoglobin below reference range
- 3Hemolytic anemia
- 3Hereditary disorder of cellular element of blood
- 3Hereditary disorder of immune system
- 3Hereditary red blood cell disorder
- 3Phagocytic cell dysfunction
- 3White blood cell disorder
- 4Anemia
- 4Disease
- 4Disorder of amino acid metabolism
- 4Disorder of cellular component of blood
- 4Disorder of immune function
- 4Hemoglobin level outside reference range
- 4Hemolytic disorder
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