773726000: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (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\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of trunk structure\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Procedure related finding\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Disorder of body system\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Metabolic disease\Disorder of lipid metabolism\Synthetic defect of bile acids\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Metabolic disease\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Status: current. Date: 31-Jan 2019

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3725999016	A rare genetic sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3726000019	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3726001015	A rare genetic sterol metabolism disorder characterised by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridaemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3726002010	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3726003017	Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5405396019	A rare sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405397011	A rare sterol metabolism disorder characterised by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridaemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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