OMOP Concept 36714289
Congenital bile acid synthesis defect type 3
StandardConditionSNOMED719454003Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Congenital bile acid synthesis defect type 3 via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 719454003 | Congenital bile acid synthesis defect type 3 | Non-standard |
Synonyms
Alternative names recorded for Congenital bile acid synthesis defect type 3 across source vocabularies.
- Congenital bile acid synthesis defect type 3 (disorder)
- defecto congénito de la síntesis de ácidos biliares tipo 3
- defecto congénito de la síntesis de ácidos biliares tipo 3 (trastorno)
- Oxysterol 7-alpha hydroxylase deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(36)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 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
- 2Inborn error of metabolism
- 2Metabolic and genetic disorder affecting the liver
- 3Congenital disease
- 3Disease of liver
- 3Disorder of digestive system
- 3Disorder of fetus and/or newborn
- 3Disorder of lipoprotein AND/OR lipid metabolism
- 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
- 4OMOP Acute Liver Failure 1
- 4OMOP Acute Liver Failure 2
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