403829002: Familial hypercholesterolemia due to heterozygous 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 above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
• \Finding of substance level\Finding of blood substance level\Finding of serum lipid levels\Finding of serum cholesterol level\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
• \Finding of substance level\Finding of blood substance level\Finding of serum lipid levels\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
• \Finding of substance level\Finding of lipid level\Finding of serum lipid levels\Finding of serum cholesterol level\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
• \Finding of substance level\Finding of lipid level\Finding of serum lipid levels\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
• \Finding of substance level\Finding of lipid level\Finding of cholesterol level\Finding of serum cholesterol level\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
• \Finding of substance level\Finding of lipid level\Lipids outside reference range\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
• \Finding of substance level\Finding of lipid level\Lipids outside reference range\Lipid above reference range\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
• \Finding of substance level\Finding of lipid level\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
• \Measurement finding outside reference range\Measurement finding above reference range\Blood substance level above reference range\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
• \Measurement finding outside reference range\Lipids outside reference range\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
• \Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
• \Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2003. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1773757014	Familial hypercholesterolaemia due to heterozygous LDL receptor mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
1775043017	Familial hypercholesterolemia due to heterozygous LDL receptor mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
2972405018	Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2972595014	Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3035741011	Familial hypercholesterolaemia due to heterozygous low density lipoprotein receptor mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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