235915002: Synthetic defect of bile acids (disorder)

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

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

\Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Synthetic defect of bile acids (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\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:

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	Existential restriction modifier (core metadata concept)
Synthetic defect of bile acids (disorder)	Is a	Disease of liver	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Synthetic defect of bile acids (disorder)	Is a	Metabolic disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Synthetic defect of bile acids (disorder)	Finding site	Liver structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Synthetic defect of bile acids (disorder)	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Synthetic defect of bile acids (disorder)	Is a	Disorder of lipid metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Synthetic defect of bile acids (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Synthetic defect of bile acids (disorder)	Is a	Metabolic and genetic disorder affecting the liver	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Synthetic defect of bile acids (disorder)	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Synthetic defect of bile acids (disorder)	Finding site	Liver structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Synthetic defect of bile acids (disorder)	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cholestanol storage disease	Is a	True	Synthetic defect of bile acids (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
An anomaly of bile acid synthesis with characteristics of severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. Patients present with neonatal cholestasis and rapid progression to cirrhosis and death in infancy without intervention. Caused by a mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1, 7q32-q33). Transmission is autosomal recessive.	Is a	True	Synthetic defect of bile acids (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency	Is a	True	Synthetic defect of bile acids (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-methylacyl-CoA racemase deficiency disorder	Is a	True	Synthetic defect of bile acids (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Bile acid CoA ligase deficiency and defective amidation	Is a	True	Synthetic defect of bile acids (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A disorder that is due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.	Due to	True	Synthetic defect of bile acids (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.	Is a	True	Synthetic defect of bile acids (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypercholanemia (disorder)	Is a	True	Synthetic defect of bile acids (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Is a	True	Synthetic defect of bile acids (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
353652012	Synthetic defect of bile acids	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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	Only initial character case insensitive (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	Only initial character 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
128001000077115	défaut de synthèse des acides biliaires	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
128001000077115	défaut de synthèse des acides biliaires	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module