238079002: Familial hypercholesterolemia - heterozygous (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Evaluation finding\Measurement finding\...

\Finding of substance level (finding)\Lipid level - finding\...

\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol abnormal\Serum cholesterol raised\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Serum lipid levels - finding\Serum lipids high\Serum cholesterol raised\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous

\Cholesterol level - finding\Serum cholesterol level - finding\Serum cholesterol abnormal\Serum cholesterol raised\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous

\Lipids abnormal\Serum cholesterol abnormal\Serum cholesterol raised\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Lipids abnormal\Increased lipid\Serum lipids high\Serum cholesterol raised\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Lipids abnormal\Increased lipid\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous

\Measurement finding outside reference range\Measurement finding above reference range\Increased lipid\Serum lipids high\Serum cholesterol raised\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Measurement finding outside reference range\Measurement finding above reference range\Increased lipid\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Measurement finding outside reference range\Lipids abnormal\Serum cholesterol abnormal\Serum cholesterol raised\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Measurement finding outside reference range\Lipids abnormal\Increased lipid\Serum lipids high\Serum cholesterol raised\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia - heterozygous
\Measurement finding outside reference range\Lipids abnormal\Increased lipid\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:

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

974591000052111 heterozygot familjär hyperkolesterolemi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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 raised	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