398036000: Familial hypercholesterolemia (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
\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
\Finding of substance level\Finding of blood substance level\Serum lipid levels - finding\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia
\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
\Finding of substance level\Lipid level - finding\Serum lipid levels - finding\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia
\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
\Finding of substance level\Lipid level - finding\Lipids abnormal\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia
\Finding of substance level\Lipid level - finding\Lipids abnormal\Lipid above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia
\Finding of substance level\Lipid level - finding\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia

\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
\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
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia
\Measurement finding outside reference range\Lipids abnormal\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia
\Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia
\Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia

\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia

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

Descriptions:

Id Description Lang Type Status Case? Module

1765955013 Familial hypercholesterolemia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1773186016 Familial hypercholesterolaemia en Synonym Active Case insensitive SNOMED CT core

1774472018 Familial hypercholesterolemia en Synonym Active Case insensitive SNOMED CT core

1783622013 Familial hyperbetalipoproteinaemia en Synonym Active Case insensitive SNOMED CT core

1783623015 Essential familial hypercholesterolaemia en Synonym Active Case insensitive SNOMED CT core

1784011016 Essential familial hypercholesterolemia en Synonym Active Case insensitive SNOMED CT core

1784012011 Familial hyperbetalipoproteinemia en Synonym Active Case insensitive SNOMED CT core

1786059018 LDL receptor disorder en Synonym Active Case sensitive SNOMED CT core

1786060011 LDL - Low density lipoprotein receptor disorder en Synonym Active Case sensitive SNOMED CT core

1786061010 Low density lipoprotein catabolic defect en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial homozygous hypercholesterolaemia	Is a	True	Familial hypercholesterolaemia	Inferred relationship	Some
Familial hypercholesterolaemia - heterozygous	Is a	True	Familial hypercholesterolaemia	Inferred relationship	Some
Fredrickson type IIa hyperlipoproteinaemia	Is a	True	Familial hypercholesterolaemia	Inferred relationship	Some
Familial hypercholesterolaemia due to heterozygous LDL receptor mutation	Is a	True	Familial hypercholesterolaemia	Inferred relationship	Some
Familial hypercholesterolaemia due to homozygous LDL receptor mutation	Is a	True	Familial hypercholesterolaemia	Inferred relationship	Some
Familial hypercholesterolaemia due to genetic defect of apolipoprotein B	Is a	True	Familial hypercholesterolaemia	Inferred relationship	Some
Family history of familial hypercholesterolaemia	Associated finding	False	Familial hypercholesterolaemia	Inferred relationship	Some	1
Family history of familial hypercholesterolaemia	Associated finding	True	Familial hypercholesterolaemia	Inferred relationship	Some	1
Possible familial hypercholesterolaemia	Associated finding	True	Familial hypercholesterolaemia	Inferred relationship	Some	1
Double heterozygous familial hypercholesterolaemia	Is a	True	Familial hypercholesterolaemia	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1765955013	Familial hypercholesterolemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
1773186016	Familial hypercholesterolaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
1774472018	Familial hypercholesterolemia	en	Synonym	Active	Case insensitive	SNOMED CT core
1783622013	Familial hyperbetalipoproteinaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
1783623015	Essential familial hypercholesterolaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
1784011016	Essential familial hypercholesterolemia	en	Synonym	Active	Case insensitive	SNOMED CT core
1784012011	Familial hyperbetalipoproteinemia	en	Synonym	Active	Case insensitive	SNOMED CT core
1786059018	LDL receptor disorder	en	Synonym	Active	Case sensitive	SNOMED CT core
1786060011	LDL - Low density lipoprotein receptor disorder	en	Synonym	Active	Case sensitive	SNOMED CT core
1786061010	Low density lipoprotein catabolic defect	en	Synonym	Active	Case insensitive	SNOMED CT core