773726000: hypercholesterolemie door deficiëntie van cholesterol-7-alfa-hydroxylase (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)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \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)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \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)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \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)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \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)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \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)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Finding of substance level (finding)\Finding of blood substance level\Blood substance level above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level (finding)\Finding of blood substance level\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level (finding)\Finding of blood substance level\Serum lipid levels - finding\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level (finding)\Lipid level - finding\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level (finding)\Lipid level - finding\Serum lipid levels - finding\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level (finding)\Lipid level - finding\Cholesterol level - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Serum cholesterol outside reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Lipid above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Measurement finding outside reference range\Measurement finding above reference range\Blood substance level above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Measurement finding outside reference range\Lipids outside reference range\Serum cholesterol outside reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\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 (disorder)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Synthetic defect of bile acids (disorder)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Synthetic defect of bile acids (disorder)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \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)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \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)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \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)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids (disorder)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Synthetic defect of bile acids (disorder)\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Hypercholesterolemia\Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3726000019	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (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
6785761000146113	hypercholesterolemie door deficiëntie van cholesterol-7-alfa-hydroxylase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7363441000146118	hypercholesterolemie door CYP7A1-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8148661000146116	hypercholesterolemie door deficiëntie van cholesterol-7-alfa-hydroxylase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8148701000146114	hypercholesterolemie door cholesterol-7-alfa-hydroxylasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Active	Entire term case sensitive (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	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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