OMOP Concept 4245288
Glutamate formiminotransferase deficiency
StandardConditionSNOMED59761008Disorder
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 Glutamate formiminotransferase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 139382 | Glutamate formiminotransferase deficiency | Non-standard |
| MeSH | C537425 | Glutamate formiminotransferase deficiency | Non-standard |
| Nebraska Lexicon | 59761008 | Deficiency of glutamate formiminotransferase | Non-standard |
Synonyms
Alternative names recorded for Glutamate formiminotransferase deficiency across source vocabularies.
- aciduria formiminoglutámica
- deficiencia de glutamato formiminotransferasa
- deficiencia de glutamato formiminotransferasa (trastorno)
- Deficiency of glutamate formiminotransferase
- Deficiency of glutamate formyltransferase
- FIGLUria
- Formiminoglutamic aciduria
- Glutamate formiminotransferase deficiency (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(17)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of sulfur-bearing amino acid metabolism
- 1Enzymopathy
- 1Inherited disorder of folate metabolism
- 2Autosomal hereditary disorder
- 2Disorder of amino acid and organic acid metabolism
- 2Disorder of organic acid metabolism
- 2Inborn error of metabolism
- 2Metabolic disease
- 3Congenital disease
- 3Disease
- 3Disorder of amino acid metabolism
- 3Hereditary disease
- 3Hereditary metabolic disease
- 4Clinical finding
- 4Disorder of fetus and/or newborn
- 4Genetic disease
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