403830007: Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Finding of substance level (finding)\Finding of blood substance level (finding)\Blood substance level above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \Finding of substance level (finding)\Finding of blood substance level (finding)\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \Finding of substance level (finding)\Finding of blood substance level (finding)\Serum lipid levels - finding\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \Finding of substance level (finding)\Lipid level - finding\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \Finding of substance level (finding)\Lipid level - finding\Serum lipid levels - finding\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \Finding of substance level (finding)\Lipid level - finding\Cholesterol level - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \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\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Lipid above reference range\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \Measurement finding outside reference range\Measurement finding above reference range (finding)\Blood substance level above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \Measurement finding outside reference range\Measurement finding above reference range (finding)\Lipid above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \Measurement finding outside reference range\Measurement finding above reference range (finding)\Lipid above reference range\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \Measurement finding outside reference range\Lipids outside reference range\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \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\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation
• \Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\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\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to homozygous LDL receptor mutation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1775044011	Familial hypercholesterolemia due to homozygous LDL receptor mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2972477013	Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2972813013	Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3035909011	Familial hypercholesterolaemia due to homozygous low density lipoprotein receptor mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1771756014	Familial hypercholesterolemia due to homozygous LDL receptor mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1773758016	Familial hypercholesterolaemia due to homozygous LDL receptor mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1775044011	Familial hypercholesterolemia due to homozygous LDL receptor mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2972477013	Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2972477013	Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2972813013	Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2972813013	Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3035909011	Familial hypercholesterolaemia due to homozygous low density lipoprotein receptor mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3035909011	Familial hypercholesterolaemia due to homozygous low density lipoprotein receptor mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6157111000241115	hypercholestérolémie familiale due à une mutation homozygote du récepteur des lipoprotéines de basse densité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6157121000241110	hypercholestérolémie familiale due à une mutation homozygote du récepteur des LDL (low density lipoprotein)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6157111000241115	hypercholestérolémie familiale due à une mutation homozygote du récepteur des lipoprotéines de basse densité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6157121000241110	hypercholestérolémie familiale due à une mutation homozygote du récepteur des LDL (low density lipoprotein)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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