403831006: Familial hypercholesterolemia due to genetic defect of apolipoprotein B (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\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
• \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\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
• \Finding of substance level\Finding of blood substance level\Serum lipid levels - finding\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
• \Finding of substance level\Lipid level - finding\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
• \Finding of substance level\Lipid level - finding\Serum lipid levels - finding\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
• \Finding of substance level\Lipid level - finding\Cholesterol level - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
• \Finding of substance level\Lipid level - finding\Lipids abnormal\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
• \Finding of substance level\Lipid level - finding\Lipids abnormal\Lipid above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
• \Finding of substance level\Lipid level - finding\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
• \Measurement finding outside reference range\Measurement finding above reference range\Blood substance level above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
• \Measurement finding outside reference range\Lipids abnormal\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
• \Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
• \Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B

Status: current, Primitive. Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1771757017	Familial hypercholesterolemia due to genetic defect of apolipoprotein B (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
1773759012	Familial hypercholesterolaemia due to genetic defect of apolipoprotein B	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1775045012	Familial hypercholesterolemia due to genetic defect of apolipoprotein B	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1783803018	Hypercholesterolaemia due to apolipoprotein B gene defect	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1784188017	Hypercholesterolemia due to apolipoprotein B gene defect	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1784189013	Familial Combined Hypercholesterolemia	en	Synonym	Active	Initial character case insensitive	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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