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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

356873015 Familial hypercholesterolaemia - heterozygous en Synonym Active Entire term case insensitive SNOMED CT core module

356874014 Familial hypercholesterolemia - heterozygous en Synonym Active Entire term case insensitive SNOMED CT core module

626912013 Familial hypercholesterolemia - heterozygous (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Suspected heterozygous familial hypercholesterolemia	Associated finding	True	Familial hypercholesterolemia - heterozygous	Inferred relationship	Existential restriction modifier	1
Possible heterozygous familial hypercholesterolaemia	Associated finding	True	Familial hypercholesterolemia - heterozygous	Inferred relationship	Existential restriction modifier	2
Possible heterozygous familial hypercholesterolaemia	Associated finding	False	Familial hypercholesterolemia - heterozygous	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
356873015	Familial hypercholesterolaemia - heterozygous	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
356874014	Familial hypercholesterolemia - heterozygous	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
626912013	Familial hypercholesterolemia - heterozygous (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module