403829002: Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder)

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:

Id Description Lang Type Status Case? Module

1771755013 Familial hypercholesterolemia due to heterozygous LDL receptor mutation (disorder) en Fully specified name Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
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
12120601000172116 hypercholestérolémie familiale due à une mutation hétérozygote du récepteur des LDL (low density lipoprotein) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
12120611000172118 hypercholestérolémie familiale due à une mutation hétérozygote du récepteur des lipoprotéines de basse densité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
5221931000172111 familiale hypercholesterolemie door heterozygote LDL-receptormutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
5221941000172116 familiaire hypercholesterolemie door heterozygote mutatie van LDL-receptor nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
5221951000172119 familiaire hypercholesterolemie door heterozygote 'low-density lipoprotein receptor'-mutatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
14610901000172112 familiale hypercholesterolemie door heterozygote mutatie van LDL-receptor nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
14610911000172110 familiale hypercholesterolemie door heterozygote 'low-density lipoprotein receptor'-mutatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1771755013	Familial hypercholesterolemia due to heterozygous LDL receptor mutation (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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
12120601000172116	hypercholestérolémie familiale due à une mutation hétérozygote du récepteur des LDL (low density lipoprotein)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12120611000172118	hypercholestérolémie familiale due à une mutation hétérozygote du récepteur des lipoprotéines de basse densité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5221931000172111	familiale hypercholesterolemie door heterozygote LDL-receptormutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5221941000172116	familiaire hypercholesterolemie door heterozygote mutatie van LDL-receptor	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5221951000172119	familiaire hypercholesterolemie door heterozygote 'low-density lipoprotein receptor'-mutatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14610901000172112	familiale hypercholesterolemie door heterozygote mutatie van LDL-receptor	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14610911000172110	familiale hypercholesterolemie door heterozygote 'low-density lipoprotein receptor'-mutatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)