238079002: Familial hypercholesterolemia - heterozygous (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\Familial hypercholesterolaemia - heterozygous
\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\Familial hypercholesterolaemia - heterozygous
\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\Familial hypercholesterolaemia - heterozygous
\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\Familial hypercholesterolaemia - heterozygous
\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\Familial hypercholesterolaemia - heterozygous
\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\Familial hypercholesterolaemia - heterozygous
\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\Familial hypercholesterolaemia - heterozygous
\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\Familial hypercholesterolaemia - heterozygous
\Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Lipid above reference range\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia - heterozygous

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Suspected heterozygous familial hypercholesterolemia (situation)	Associated finding	True	Familial hypercholesterolaemia - heterozygous	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356873015	Familial hypercholesterolaemia - heterozygous	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356874014	Familial hypercholesterolemia - heterozygous	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626912013	Familial hypercholesterolemia - heterozygous (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356873015	Familial hypercholesterolaemia - heterozygous	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356873015	Familial hypercholesterolaemia - heterozygous	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356874014	Familial hypercholesterolemia - heterozygous	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356874014	Familial hypercholesterolemia - heterozygous	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626912013	Familial hypercholesterolemia - heterozygous (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626912013	Familial hypercholesterolemia - heterozygous (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5021821000241117	hypercholestérolémie familiale hétérozygote	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5021821000241117	hypercholestérolémie familiale hétérozygote	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module