773726000: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\...
• \Finding of substance level\Finding of blood substance level\Blood substance level above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level\Finding of blood substance level\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level\Finding of blood substance level\Serum lipid levels - finding\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level\Lipid level - finding\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level\Lipid level - finding\Serum lipid levels - finding\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level\Lipid level - finding\Cholesterol level - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level\Lipid level - finding\Lipids abnormal\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level\Lipid level - finding\Lipids abnormal\Lipid above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of substance level\Lipid level - finding\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Measurement finding outside reference range\Measurement finding above reference range\Blood substance level above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Measurement finding outside reference range\Lipids abnormal\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Viscus structure finding\Abdominal organ finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Digestive system finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipid metabolism disorder\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidaemia\Hypercholesterolaemia\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
3726002010	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3726003017	Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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