OMOP Concept 4178632
Inborn error of amino acid metabolism
StandardConditionSNOMED42930003Disorder
Maps from
4
Descendants
6
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
4 source codes normalize to Inborn error of amino acid metabolism via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 137664 | Inborn error of amino acid metabolism | Non-standard |
| CIEL | 147873 | Benign neonatal hyperaminoaciduria | Non-standard |
| MeSH | D000592 | Amino Acid Metabolism, Inborn Errors | Non-standard |
| Nebraska Lexicon | 42930003 | Inborn error of amino acid metabolism | Non-standard |
Synonyms
Alternative names recorded for Inborn error of amino acid metabolism across source vocabularies.
- error congénito del metabolismo de los aminoácidos
- error congénito del metabolismo de los aminoácidos (trastorno)
- hiperaminoaciduria
- Hyperaminoaciduria
- Inborn error of amino acid metabolism (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(12)Roll up to these when you need a wider cohort.
- 1Disorder of amino acid and organic acid metabolism
- 1Inborn error of metabolism
- 2Congenital disease
- 2Disorder of amino acid metabolism
- 2Hereditary metabolic disease
- 3Disorder of fetus and/or newborn
- 3Disorder of organic acid metabolism
- 3Hereditary disease
- 3Metabolic disease
- 4Disease
- 4Genetic disease
- 5Clinical finding
Narrower concepts
(6)Included automatically when you query with descendants.
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