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 above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia due to homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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

1773758016 Familial hypercholesterolaemia due to homozygous LDL receptor mutation en Synonym Active Only initial character case insensitive SNOMED CT core module

1775044011 Familial hypercholesterolemia due to homozygous LDL receptor mutation en Synonym Active Only initial character case insensitive SNOMED CT core module

2972477013 Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation en Synonym Active Entire term case insensitive SNOMED CT core module

2972813013 Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3035909011 Familial hypercholesterolaemia due to homozygous low density lipoprotein receptor mutation en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation	Is a	Familial hypercholesterolemia	true	Inferred relationship	Existential restriction modifier
Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation	Has definitional manifestation	Serum cholesterol above reference range	false	Inferred relationship	Existential restriction modifier
Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	1
Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation	Interprets	Serum total cholesterol measurement	true	Inferred relationship	Existential restriction modifier	1

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
1773758016	Familial hypercholesterolaemia due to homozygous LDL receptor mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
1775044011	Familial hypercholesterolemia due to homozygous LDL receptor mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
2972477013	Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2972813013	Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3035909011	Familial hypercholesterolaemia due to homozygous low density lipoprotein receptor mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module