403830007: familiaire hypercholesterolemie door homozygote '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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous 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 homozygous LDL receptor mutation	Is a	Familial hypercholesterolemia (disorder)	true	Inferred relationship	Some
Familial hypercholesterolaemia due to homozygous LDL receptor mutation	Finding site	Body system structure	false	Inferred relationship	Some
Familial hypercholesterolaemia due to homozygous LDL receptor mutation	Has definitional manifestation	Serum cholesterol above reference range	false	Inferred relationship	Some
Familial hypercholesterolaemia due to homozygous LDL receptor mutation	Has interpretation	Above reference range	true	Inferred relationship	Some	1
Familial hypercholesterolaemia due to homozygous LDL receptor mutation	Interprets	Serum total cholesterol measurement (procedure)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1773758016	Familial hypercholesterolaemia due to homozygous LDL receptor mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1775044011	Familial hypercholesterolemia due to homozygous LDL receptor mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2972477013	Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2972813013	Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3035909011	Familial hypercholesterolaemia due to homozygous low density lipoprotein receptor mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7383511000146118	familiale hypercholesterolemie door homozygote 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)
8021801000146115	familiaire hypercholesterolemie door homozygote 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)
12122121000146113	familiaire hypercholesterolemie door homozygote '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)
12122131000146110	familiaire hypercholesterolemie door homozygote '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)