OMOP Concept 4119295
Glutaric aciduria, type 2
StandardConditionSNOMED22886006Disorder
Maps from
9
Descendants
3
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
9 source codes normalize to Glutaric aciduria, type 2 via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 122783 | Glutaric acidemia, type 2 | Non-standard |
| CIEL | 148087 | Autosomal recessive glutaric aciduria, type 2 | Non-standard |
| HPO | HP_0003219 | Ethylmalonic aciduria | Non-standard |
| ICD10CM | E71.313 | Glutaric aciduria type II | Non-standard |
| MeSH | D054069 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | Non-standard |
| Nebraska Lexicon | 22062008 | X-linked glutaric aciduria, type 2 | Non-standard |
| Nebraska Lexicon | 22886006 | Ethylmalonic-adipicaciduria | Non-standard |
| Nebraska Lexicon | 25425008 | Autosomal recessive glutaric aciduria, type 2 | Non-standard |
| Read | C308100 | Multiple acyl-CoA dehydrogenase deficiencies | Non-standard |
Synonyms
Alternative names recorded for Glutaric aciduria, type 2 across source vocabularies.
- acidemia glutárica, tipo 2
- acidemia glutárica, tipo II
- aciduria etilmalónica
- aciduria glutárica, tipo 2
- aciduria glutárica, tipo 2 (trastorno)
- Ethylmalonic-adipicaciduria
- Glutaric acidaemia, type 2
- Glutaric acidemia, type 2
- Glutaric aciduria, type 2 (disorder)
- Glutaric aciduria type II
- MADD - multiple acyl-CoA dehydrogenase deficiency
- MAD - Multiple acyl-CoA dehydrogenase deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(18)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of fatty acid metabolism
- 1Glutaric aciduria
- 2Autosomal hereditary disorder
- 2Disorder of amino acid and organic acid metabolism
- 2Disorder of lipoprotein AND/OR lipid metabolism
- 2Disorder of organic acid metabolism
- 2Inborn error of metabolism
- 2Non-amino organic acidemia AND/OR aciduria
- 3Congenital disease
- 3Disorder of amino acid metabolism
- 3Hereditary disease
- 3Hereditary metabolic disease
- 3Metabolic disease
- 4Disease
- 4Disorder of fetus and/or newborn
- 4Genetic disease
- 5Clinical finding
Narrower concepts
(3)Included automatically when you query with descendants.
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