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 above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia
\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
\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
\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
\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
\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
\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
\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
\Finding of substance level\Finding of lipid level\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia

\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
\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
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia
\Measurement finding outside reference range\Lipids outside reference range\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia
\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
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia

\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia

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

1765955013 Familial hypercholesterolemia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1773186016 Familial hypercholesterolaemia en Synonym Active Entire term case insensitive SNOMED CT core module

1774472018 Familial hypercholesterolemia en Synonym Active Entire term case insensitive SNOMED CT core module

1783622013 Familial hyperbetalipoproteinaemia en Synonym Active Entire term case insensitive SNOMED CT core module

1783623015 Essential familial hypercholesterolaemia en Synonym Active Entire term case insensitive SNOMED CT core module

1784011016 Essential familial hypercholesterolemia en Synonym Active Entire term case insensitive SNOMED CT core module

1784012011 Familial hyperbetalipoproteinemia en Synonym Active Entire term case insensitive SNOMED CT core module

1786059018 LDL receptor disorder en Synonym Active Entire term case sensitive SNOMED CT core module

1786060011 LDL - Low density lipoprotein receptor disorder en Synonym Active Entire term case sensitive SNOMED CT core module

1786061010 Low density lipoprotein catabolic defect 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	Is a	Primary hypercholesterolemia	true	Inferred relationship	Existential restriction modifier
Familial hypercholesterolemia	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Familial hypercholesterolemia	Has definitional manifestation	Serum cholesterol above reference range	false	Inferred relationship	Existential restriction modifier
Familial hypercholesterolemia	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	1
Familial hypercholesterolemia	Interprets	Serum total cholesterol measurement	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial hypercholesterolemia - homozygous	Is a	True	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier
Familial hypercholesterolemia - heterozygous	Is a	True	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier
Fredrickson type IIa hyperlipoproteinemia	Is a	True	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier
Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation	Is a	True	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier
Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation	Is a	True	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier
Familial hypercholesterolemia due to genetic defect of apolipoprotein B	Is a	True	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier
Family history of familial hypercholesterolemia	Associated finding	False	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier	1
Family history of familial hypercholesterolemia	Associated finding	True	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier	1
Possible familial hypercholesterolemia	Associated finding	True	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier	1
Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations	Is a	True	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier
Possible heterozygous familial hypercholesterolaemia	Associated finding	True	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier	1
Possible familial hypercholesterolaemia	Associated finding	False	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier
Assessment for familial hypercholesterolaemia	Has focus	True	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier	2
Probable familial hypercholesterolaemia	Associated finding	True	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier	1

This concept is not in any reference sets

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