398036000: Familial hypercholesterolemia (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
\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
\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
\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
\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
\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
\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
\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
\Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Lipid above reference range\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia

\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
\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
\Measurement finding outside reference range\Measurement finding above reference range (finding)\Lipid above reference range\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia
\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
\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
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypercholesterolaemia	Is a	Primary hypercholesterolemia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypercholesterolaemia	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypercholesterolaemia	Has definitional manifestation	Serum cholesterol above reference range	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypercholesterolaemia	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial hypercholesterolaemia	Interprets	Serum total cholesterol measurement (procedure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial hypercholesterolaemia - homozygous	Is a	True	Familial hypercholesterolaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypercholesterolaemia - heterozygous	Is a	True	Familial hypercholesterolaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Fredrickson type IIa hyperlipoproteinemia (disorder)	Is a	True	Familial hypercholesterolaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypercholesterolaemia due to heterozygous LDL receptor mutation	Is a	True	Familial hypercholesterolaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypercholesterolaemia due to homozygous LDL receptor mutation	Is a	True	Familial hypercholesterolaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypercholesterolaemia due to genetic defect of apolipoprotein B	Is a	True	Familial hypercholesterolaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Family history of familial hypercholesterolemia (situation)	Associated finding	False	Familial hypercholesterolaemia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Family history of familial hypercholesterolemia (situation)	Associated finding	True	Familial hypercholesterolaemia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Possible familial hypercholesterolemia	Associated finding	True	Familial hypercholesterolaemia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Double heterozygous familial hypercholesterolaemia	Is a	True	Familial hypercholesterolaemia	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1765955013	Familial hypercholesterolemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1773186016	Familial hypercholesterolaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1774472018	Familial hypercholesterolemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1783622013	Familial hyperbetalipoproteinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1783623015	Essential familial hypercholesterolaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1784011016	Essential familial hypercholesterolemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1784012011	Familial hyperbetalipoproteinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786059018	LDL receptor disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786060011	LDL - Low density lipoprotein receptor disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786061010	Low density lipoprotein catabolic defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1765955013	Familial hypercholesterolemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1765955013	Familial hypercholesterolemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1773186016	Familial hypercholesterolaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1773186016	Familial hypercholesterolaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1774472018	Familial hypercholesterolemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1774472018	Familial hypercholesterolemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1783622013	Familial hyperbetalipoproteinaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1783622013	Familial hyperbetalipoproteinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1783623015	Essential familial hypercholesterolaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1783623015	Essential familial hypercholesterolaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1784011016	Essential familial hypercholesterolemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1784011016	Essential familial hypercholesterolemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1784012011	Familial hyperbetalipoproteinemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1784012011	Familial hyperbetalipoproteinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786059018	LDL receptor disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786060011	LDL - Low density lipoprotein receptor disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786061010	Low density lipoprotein catabolic defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1786061010	Low density lipoprotein catabolic defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
203551000172116	hypercholestérolémie familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
203551000172116	hypercholestérolémie familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module