403830007: Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (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 homozygous LDL receptor mutation
• \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 homozygous LDL receptor mutation
• \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 homozygous LDL receptor mutation
• \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 homozygous LDL receptor mutation
• \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 homozygous LDL receptor mutation
• \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 homozygous LDL receptor mutation
• \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 homozygous LDL receptor mutation
• \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 homozygous LDL receptor mutation
• \Finding of substance level\Lipid level - finding\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \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 homozygous LDL receptor mutation
• \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 homozygous LDL receptor mutation
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \Measurement finding outside reference range\Lipids abnormal\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \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 homozygous LDL receptor mutation
• \Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \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 homozygous LDL receptor mutation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1773758016	Familial hypercholesterolaemia due to homozygous LDL receptor mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1775044011	Familial hypercholesterolemia due to homozygous LDL receptor mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2972477013	Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation	en	Synonym	Active	Case insensitive	SNOMED CT core
2972813013	Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3035909011	Familial hypercholesterolaemia due to homozygous low density lipoprotein receptor mutation	en	Synonym	Active	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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