773726000: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (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)\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)\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)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\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)\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)\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 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)\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 trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\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
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Synthetic defect of bile acids (disorder)\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

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

968371000172113 hypercholestérolémie due au déficit en cholesterol 7alpha-hydroxylase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

977601000172117 hypercholesterolemie als gevolg van cholesterol 7-alfa-hydrolasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Finding site	Liver structure	true	Inferred relationship	Some	2
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Has interpretation	Above reference range	true	Inferred relationship	Some	1
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Is a	Synthetic defect of bile acids (disorder)	true	Inferred relationship	Some
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Interprets	Serum total cholesterol measurement (procedure)	true	Inferred relationship	Some	1
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Is a	Hypercholesterolemia	true	Inferred relationship	Some
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
968371000172113	hypercholestérolémie due au déficit en cholesterol 7alpha-hydroxylase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
977601000172117	hypercholesterolemie als gevolg van cholesterol 7-alfa-hydrolasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)