403831006: Familial hypercholesterolemia due to genetic defect of apolipoprotein B (disorder)

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

\Procedure related finding\Evaluation finding\Measurement finding\...

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

\Measurement finding outside reference range\Measurement finding above reference range (finding)\Blood substance level above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
\Measurement finding outside reference range\Measurement finding above reference range (finding)\Lipid above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
\Measurement finding outside reference range\Measurement finding above reference range (finding)\Lipid above reference range\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
\Measurement finding outside reference range\Lipids outside reference range\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
\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 (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B

\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Familial hypercholesterolaemia due to genetic defect of apolipoprotein B

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 genetic defect of apolipoprotein B	Is a	Familial hypercholesterolaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypercholesterolaemia due to genetic defect of apolipoprotein B	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypercholesterolaemia due to genetic defect of apolipoprotein B	Has definitional manifestation	Serum cholesterol above reference range	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypercholesterolaemia due to genetic defect of apolipoprotein B	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial hypercholesterolaemia due to genetic defect of apolipoprotein B	Interprets	Serum total cholesterol measurement (procedure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
1771757017	Familial hypercholesterolemia due to genetic defect of apolipoprotein B (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1773759012	Familial hypercholesterolaemia due to genetic defect of apolipoprotein B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1775045012	Familial hypercholesterolemia due to genetic defect of apolipoprotein B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1783803018	Hypercholesterolaemia due to apolipoprotein B gene defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1784188017	Hypercholesterolemia due to apolipoprotein B gene defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1771757017	Familial hypercholesterolemia due to genetic defect of apolipoprotein B (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1773759012	Familial hypercholesterolaemia due to genetic defect of apolipoprotein B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1775045012	Familial hypercholesterolemia due to genetic defect of apolipoprotein B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1783802011	Familial Combined Hypercholesterolaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1783803018	Hypercholesterolaemia due to apolipoprotein B gene defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1784188017	Hypercholesterolemia due to apolipoprotein B gene defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1784189013	Familial Combined Hypercholesterolemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6197411000241116	hypercholestérolémie familiale due à un défaut génétique de l'apolipoprotéine B	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6197421000241111	hypercholestérolémie familiale due à un défaut génétique de l'apo B	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6197411000241116	hypercholestérolémie familiale due à un défaut génétique de l'apolipoprotéine B	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6197421000241111	hypercholestérolémie familiale due à un défaut génétique de l'apo B	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module