OMOP Concept 4031812
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
StandardConditionSNOMED238033007Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C535442 | Bile acid synthesis defect, congenital, 1 | Non-standard |
| Nebraska Lexicon | 238033007 | 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | Non-standard |
Synonyms
Alternative names recorded for 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency across source vocabularies.
- 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder)
- Congenital bile acid synthesis defect type 1
- defecto congénito de la síntesis de ácidos biliares tipo 1
- deficiencia de 3-beta-hidroxi-delta-5-C27-esteroide deshidrogenasa
- deficiencia de 3-beta-hidroxi-delta-5-C27-esteroide deshidrogenasa (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(39)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of cholesterol catabolism
- 1Synthetic defect of bile acids
- 2Autosomal hereditary disorder
- 2Digestive system hereditary disorder
- 2Disorder of cholesterol metabolism
- 2Disorder of digestive system specific to fetus OR newborn
- 2Disorder of lipid metabolism
- 2Disorder of lipid storage and 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
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