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 high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to heterozygous 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 heterozygous 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 heterozygous 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 heterozygous 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 heterozygous 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 heterozygous 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 heterozygous 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 heterozygous 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 heterozygous 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 heterozygous 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 heterozygous 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 heterozygous 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 heterozygous 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 heterozygous LDL receptor mutation
\Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to heterozygous 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 heterozygous LDL receptor mutation

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

Descriptions:

Id Description Lang Type Status Case? Module

1339751000168113 Familial hypercholesterolaemia due to heterozygous low density lipoprotein receptor mutation en Synonym Inactive Initial character case insensitive SNOMED Clinical Terms Australian extension
1771755013 Familial hypercholesterolemia due to heterozygous LDL receptor mutation (disorder) en Fully specified name Inactive Initial character case insensitive SNOMED CT core
1773757014 Familial hypercholesterolaemia due to heterozygous LDL receptor mutation en Synonym Active Initial character case insensitive SNOMED CT core
1775043017 Familial hypercholesterolemia due to heterozygous LDL receptor mutation en Synonym Active Initial character case insensitive SNOMED CT core
2972405018 Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation en Synonym Active Case insensitive SNOMED CT core
2972595014 Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3035741011 Familial hypercholesterolaemia due to heterozygous low density lipoprotein receptor mutation en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypercholesterolaemia due to heterozygous LDL receptor mutation	Is a	Familial hypercholesterolaemia	true	Inferred relationship	Some
Familial hypercholesterolaemia due to heterozygous LDL receptor mutation	Finding site	Body system structure	false	Inferred relationship	Some
Familial hypercholesterolaemia due to heterozygous LDL receptor mutation	Has definitional manifestation	Serum cholesterol raised	false	Inferred relationship	Some
Familial hypercholesterolaemia due to heterozygous LDL receptor mutation	Has interpretation	Above reference range	true	Inferred relationship	Some	1
Familial hypercholesterolaemia due to heterozygous LDL receptor mutation	Interprets	Serum total cholesterol measurement	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1339751000168113	Familial hypercholesterolaemia due to heterozygous low density lipoprotein receptor mutation	en	Synonym	Inactive	Initial character case insensitive	SNOMED Clinical Terms Australian extension
1771755013	Familial hypercholesterolemia due to heterozygous LDL receptor mutation (disorder)	en	Fully specified name	Inactive	Initial character case insensitive	SNOMED CT core
1773757014	Familial hypercholesterolaemia due to heterozygous LDL receptor mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1775043017	Familial hypercholesterolemia due to heterozygous LDL receptor mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2972405018	Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation	en	Synonym	Active	Case insensitive	SNOMED CT core
2972595014	Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3035741011	Familial hypercholesterolaemia due to heterozygous low density lipoprotein receptor mutation	en	Synonym	Active	Case insensitive	SNOMED CT core