235915002: Synthetic defect of bile acids (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids

\Finding of trunk structure\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids
\Disease\Disorder of body system\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids
\Disease\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids
\Disease\Metabolic disease\Disorder of lipid metabolism\Synthetic defect of bile acids
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids

Status: current. Date: 31-Jan 2002

Descriptions:

Id Description Lang Type Status Case? Module

353652012 Synthetic defect of bile acids en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
624439013 Synthetic defect of bile acids (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3293029011 BASD - Bile acid synthetic defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3294143010 Bile acid synthetic defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3295634014 Bile acid synthesis disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4570889017 Inborn error of bile acid synthesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4570890014 Disorder of bile acid synthesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Synthetic defect of bile acids	Is a	Metabolic and genetic disorder affecting the liver	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Synthetic defect of bile acids	Is a	Disorder of lipid metabolism	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Synthetic defect of bile acids	Is a	Inborn error of metabolism	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Synthetic defect of bile acids	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Synthetic defect of bile acids	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2

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

This concept is not in any reference sets