403829002: familiaire hypercholesterolemie door heterozygote 'low-density lipoprotein receptor'-mutatie (aandoening)

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 due to heterozygous LDL receptor mutation
\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 due to heterozygous LDL receptor mutation
\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 due to heterozygous LDL receptor mutation
\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 due to heterozygous LDL receptor mutation
\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 due to heterozygous LDL receptor mutation
\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 due to heterozygous LDL receptor mutation
\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 due to heterozygous LDL receptor mutation
\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 due to heterozygous LDL receptor mutation
\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 due to heterozygous LDL receptor mutation

\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 due to heterozygous LDL receptor mutation
\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 due to heterozygous LDL receptor mutation
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia due to heterozygous LDL receptor mutation
\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 due to heterozygous LDL receptor mutation
\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 due to heterozygous LDL receptor mutation
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Familial hypercholesterolaemia due to heterozygous LDL receptor mutation

\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 due to heterozygous LDL receptor mutation

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 due to heterozygous LDL receptor mutation	Is a	Familial hypercholesterolemia (disorder)	true	Inferred relationship	Some
Familial hypercholesterolaemia due to heterozygous LDL receptor mutation	Finding site	Body system structure	false	Inferred relationship	Some
Familial hypercholesterolaemia due to heterozygous LDL receptor mutation	Has definitional manifestation	Serum cholesterol above reference range	false	Inferred relationship	Some
Familial hypercholesterolaemia due to heterozygous LDL receptor mutation	Has interpretation	Above reference range	true	Inferred relationship	Some	1
Familial hypercholesterolaemia due to heterozygous LDL receptor mutation	Interprets	Serum total cholesterol measurement (procedure)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
1773757014	Familial hypercholesterolaemia due to heterozygous LDL receptor mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1775043017	Familial hypercholesterolemia due to heterozygous LDL receptor mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2972405018	Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2972595014	Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3035741011	Familial hypercholesterolaemia due to heterozygous low density lipoprotein receptor mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7383501000146115	familiale hypercholesterolemie door heterozygote LDL-receptormutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8021791000146119	familiaire hypercholesterolemie door heterozygote mutatie van LDL-receptor	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12122101000146117	familiaire hypercholesterolemie door heterozygote 'low-density lipoprotein receptor'-mutatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12122111000146115	familiaire hypercholesterolemie door heterozygote 'low-density lipoprotein receptor'-mutatie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)