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\Blood substance level above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Finding of substance level (finding)\Finding of blood substance level\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Finding of substance level (finding)\Finding of blood substance level\Serum lipid levels - finding\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Finding of substance level (finding)\Lipid level - finding\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\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\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Finding of substance level (finding)\Lipid level - finding\Cholesterol level - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Serum cholesterol outside reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\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\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous

\Measurement finding outside reference range\Measurement finding above reference range\Blood substance level above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Measurement finding outside reference range\Lipids outside reference range\Serum cholesterol outside reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\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\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous

\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\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	Some
Familial hypercholesterolaemia - heterozygous	Occurrence	Congenital	false	Inferred relationship	Some
Familial hypercholesterolaemia - heterozygous	Finding site	Body system structure	false	Inferred relationship	Some
Familial hypercholesterolaemia - heterozygous	Is a	Familial hypercholesterolemia (disorder)	true	Inferred relationship	Some
Familial hypercholesterolaemia - heterozygous	Has definitional manifestation	Serum cholesterol above reference range	false	Inferred relationship	Some
Familial hypercholesterolaemia - heterozygous	Has interpretation	Above reference range	true	Inferred relationship	Some	1
Familial hypercholesterolaemia - heterozygous	Interprets	Serum total cholesterol measurement (procedure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Suspected heterozygous familial hypercholesterolemia (situation)	Associated finding	True	Familial hypercholesterolaemia - heterozygous	Inferred relationship	Some	1

Reference Sets

GB English

US English

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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
5747681000172115	hypercholestérolémie familiale hétérozygote	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
9003211000172115	forme hétérozygote de l'hypercholestérolémie familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4301011000172110	heterozygote familiaire hypercholesterolemie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14613771000172113	heterozygote familiale hypercholesterolemie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)