OMOP Concept 45773369
Arginine:glycine amidinotransferase deficiency
StandardConditionSNOMED702440000Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2014
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Arginine:glycine amidinotransferase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C567192 | Arginine-Glycine Amidinotransferase Deficiency | Non-standard |
Synonyms
Alternative names recorded for Arginine:glycine amidinotransferase deficiency across source vocabularies.
- Cerebral creatine deficiency syndrome 3
- Cerebral creatine deficiency syndrome 3 (disorder)
- Creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency
- deficiencia de arginina:glicina amidinotransferasa
- deficiencia de L-arginina:glicina amidinotransferasa
- L-arginine:glycine amidinotransferase deficiency
- síndrome de deficiencia de creatina cerebral tipo 3
- síndrome de deficiencia de creatina cerebral tipo 3 (trastorno)
- síndrome de deficiencia de creatina debido a deficiencia de arginina:glicina amidinotransferasa
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(14)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of creatine synthesis
- 2Autosomal hereditary disorder
- 2Disorder of amino acid metabolism
- 2Inborn error of metabolism
- 3Congenital disease
- 3Disorder of organic acid metabolism
- 3Hereditary disease
- 3Hereditary metabolic disease
- 4Fetal and/or neonatal disorder
- 4Genetic disease
- 4Metabolic disease
- 5Disease
- 6Clinical finding
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