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235915002: Synthetic defect of bile acids (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
353652012 Synthetic defect of bile acids en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core Concept inactivation indicator reference set: Limited component (foundation metadata concept)
624439013 Synthetic defect of bile acids (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3293029011 BASD - Bile acid synthetic defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3294143010 Bile acid synthetic defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3295634014 Bile acid synthesis disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
4570889017 Inborn error of bile acid synthesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
4570890014 Disorder of bile acid synthesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)

8 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Synthetic defect of bile acids (disorder) Is a Nutritional disorder false Inferred relationship Some
Synthetic defect of bile acids (disorder) Is a Disease of liver false Inferred relationship Some
Synthetic defect of bile acids (disorder) Is a Metabolic disease false Inferred relationship Some
Synthetic defect of bile acids (disorder) Finding site Liver structure false Inferred relationship Some 1
Synthetic defect of bile acids (disorder) Is a Inborn error of metabolism true Inferred relationship Some
Synthetic defect of bile acids (disorder) Is a Disorder of lipid metabolism true Inferred relationship Some
Synthetic defect of bile acids (disorder) Occurrence Congenital true Inferred relationship Some 1
Synthetic defect of bile acids (disorder) Is a Metabolic and genetic disorder affecting the liver true Inferred relationship Some
Synthetic defect of bile acids (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Synthetic defect of bile acids (disorder) Finding site Liver structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Cholestanol storage disease Is a True Synthetic defect of bile acids (disorder) Inferred relationship Some
Delta-4-3-oxosteroid-5-beta-reductase deficiency Is a True Synthetic defect of bile acids (disorder) Inferred relationship Some
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency Is a True Synthetic defect of bile acids (disorder) Inferred relationship Some
Alpha-methylacyl-CoA racemase deficiency disorder Is a True Synthetic defect of bile acids (disorder) Inferred relationship Some
Bile acid coenzyme A ligase deficiency and defective amidation (disorder) Is a True Synthetic defect of bile acids (disorder) Inferred relationship Some
Intestinal malabsorption due to bile acid synthesis defect (disorder) Due to True Synthetic defect of bile acids (disorder) Inferred relationship Some 1
Congenital bile acid synthesis defect type 3 (disorder) Is a True Synthetic defect of bile acids (disorder) Inferred relationship Some
Familial hypercholanemia (disorder) Is a True Synthetic defect of bile acids (disorder) Inferred relationship Some
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Is a True Synthetic defect of bile acids (disorder) Inferred relationship Some

This concept is not in any reference sets

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