235915002: defect van galzuursynthese (aandoening)

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)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\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)\Disorder 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\Disorder of abdomen (disorder)\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\Disorder of abdomen (disorder)\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\Disorder of abdomen (disorder)\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\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\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\Disorder 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\Disorder of abdomen (disorder)\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	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
Synthetic defect of bile acids (disorder)	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some

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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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
7062611000146111	defect van galzuursynthese (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7062621000146118	defect van galzuursynthese	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7062631000146116	galzuursynthesedefect	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)