OMOP Concept 4053156
Arginase deficiency
StandardConditionSNOMED23501004Disorder
Maps from
5
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
5 source codes normalize to Arginase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 148479 | Arginase deficiency | Non-standard |
| HPO | HP_0500153 | Hyperargininemia | Non-standard |
| ICD10CM | E72.21 | Argininemia | Non-standard |
| MeSH | D020162 | Hyperargininemia | Non-standard |
| Read | C306300 | Hyperargininaemia | Non-standard |
Synonyms
Alternative names recorded for Arginase deficiency across source vocabularies.
- ARG1-gene related arginase deficiency
- ARGI deficiency
- Arginase 1-gene related arginase deficiency
- Arginase deficiency (disorder)
- Argininaemia
- argininemia
- Argininemia
- deficiencia de arginasa
- deficiencia de arginasa (trastorno)
- Deficiency of arginase
- déficit de arginasa asociado al gen ARG-1
- hiperargininemia
- Hyperargininaemia
- Hyperargininemia
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(22)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of the urea cycle metabolism
- 1Inherited metabolic disorder of nervous system
- 1Specific enzyme deficiency
- 2Autosomal hereditary disorder
- 2Disorder of amino acid and organic acid metabolism
- 2Enzymopathy
- 2Hereditary disorder of nervous system
- 2Inborn error of metabolism
- 3Congenital disease
- 3Disorder of amino acid metabolism
- 3Disorder of nervous system
- 3Hereditary disease
- 3Hereditary disorder by system
- 3Hereditary metabolic disease
- 3Metabolic disease
- 4Disease
- 4Disorder of body system
- 4Disorder of organic acid metabolism
- 4Fetal and/or neonatal disorder
- 4Genetic disease
- 5Clinical finding
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