OMOP Concept 4340395
Synthetic defect of bile acids
StandardConditionSNOMED235915002Disorder
Maps from
1
Descendants
8
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Synthetic defect of bile acids via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 235915002 | Synthetic defect of bile acids | Non-standard |
Synonyms
Alternative names recorded for Synthetic defect of bile acids across source vocabularies.
- BASD - Bile acid synthetic defect
- Bile acid synthesis disorder
- Bile acid synthetic defect
- defecto de la síntesis de ácidos biliares
- defecto de la síntesis de ácidos biliares (trastorno)
- defecto sintético de los ácidos biliares
- Disorder of bile acid synthesis
- Inborn error of bile acid synthesis
- Synthetic defect of bile acids (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(33)Roll up to these when you need a wider cohort.
- 1Digestive system hereditary disorder
- 1Disorder of digestive system specific to fetus OR newborn
- 1Disorder of lipid metabolism
- 1Inborn error of metabolism
- 1Metabolic and genetic disorder affecting the liver
- 2Congenital disease
- 2Disease of liver
- 2Disorder of digestive system
- 2Disorder of fetus and/or newborn
- 2Disorder of lipoprotein AND/OR lipid metabolism
- 2Hereditary disorder by system
- 2Hereditary metabolic disease
- 2Metabolic disease
- 3Digestive system finding
- 3Disease
- 3Disorder of body system
- 3Disorder of liver and/or biliary tract
- 3Hereditary disease
- 3Liver finding
- 3OMOP Acute Liver Failure 1
- 3OMOP Acute Liver Failure 2
- 3OMOP Acute Liver Failure 8
- 4Abdominal organ finding
- 4Clinical finding
- 4Disorder of abdomen
Narrower concepts
(8)Included automatically when you query with descendants.
- 13-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
- 1Alpha-methylacyl-CoA racemase deficiency disorder
- 1Bile acid CoA ligase deficiency and defective amidation
- 1Cholestanol storage disease
- 1Congenital bile acid synthesis defect type 3
- 1Delta-4-3-oxosteroid-5-beta-reductase deficiency
- 1Familial hypercholanemia
- 1Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
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