OMOP Concept 45763922
Alpha-methylacyl-CoA racemase deficiency disorder
StandardConditionSNOMED700463002Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2014
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
1 source code normalizes to Alpha-methylacyl-CoA racemase deficiency disorder via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C565768 | Alpha-Methylacyl-CoA Racemase Deficiency | Non-standard |
Synonyms
Alternative names recorded for Alpha-methylacyl-CoA racemase deficiency disorder across source vocabularies.
- Alpha-methylacyl-CoA racemase deficiency disorder (disorder)
- AMACR deficiency
- Congenital bile acid synthesis defect type 4
- defecto congénito de síntesis de ácidos biliares tipo 4
- deficiencia de AMACR
- trastorno por deficiencia de alfa-metilacil-CoA racemasa
- trastorno por deficiencia de alfa-metilacil-coenzima A racemasa
- trastorno por deficiencia de alfa-metilacil-coenzima A racemasa (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(38)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1General loss of peroxisomal function
- 1Synthetic defect of bile acids
- 2Autosomal hereditary disorder
- 2Digestive system hereditary disorder
- 2Disorder of digestive system specific to fetus OR newborn
- 2Disorder of lipid metabolism
- 2Disorder of peroxisomal function
- 2Inborn error of metabolism
- 2Metabolic and genetic disorder affecting the liver
- 3Congenital disease
- 3Disease of liver
- 3Disorder of digestive system
- 3Disorder of lipoprotein AND/OR lipid metabolism
- 3Fetal and/or neonatal disorder
- 3Hereditary disease
- 3Hereditary disorder by system
- 3Hereditary metabolic disease
- 3Metabolic disease
- 4Digestive system finding
- 4Disease
- 4Disorder of body system
- 4Disorder of liver and/or biliary tract
- 4Genetic disease
- 4Liver finding
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