767133009: Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (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\Double heterozygous familial hypercholesterolaemia
• \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\Double heterozygous familial hypercholesterolaemia
• \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\Double heterozygous familial hypercholesterolaemia
• \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\Double heterozygous familial hypercholesterolaemia
• \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\Double heterozygous familial hypercholesterolaemia
• \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\Double heterozygous familial hypercholesterolaemia
• \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\Double heterozygous familial hypercholesterolaemia
• \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\Double heterozygous familial hypercholesterolaemia
• \Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Lipid above reference range\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
• \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\Double heterozygous familial hypercholesterolaemia
• \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\Double heterozygous familial hypercholesterolaemia
• \Measurement finding outside reference range\Measurement finding above reference range (finding)\Lipid above reference range\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
• \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\Double heterozygous familial hypercholesterolaemia
• \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\Double heterozygous familial hypercholesterolaemia
• \Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Double heterozygous familial hypercholesterolaemia
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Low density lipoprotein receptor mutation (disorder)\Low density lipoprotein receptor adaptor protein 1 mutation\Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations\Double heterozygous familial hypercholesterolaemia
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3664436014	Familial hypercholesterolaemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664437017	Double heterozygous familial hypercholesterolaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664439019	Double heterozygous familial hypercholesterolemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664440017	Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664441018	Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5066051018	Compound heterozygous familial hypercholesterolemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5066052013	Compound heterozygous familial hypercholesterolaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664436014	Familial hypercholesterolaemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664437017	Double heterozygous familial hypercholesterolaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664438010	Compound familial hypercholesterolaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664439019	Double heterozygous familial hypercholesterolemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664440017	Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664441018	Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780609017	Compound familial hypercholesterolemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5066051018	Compound heterozygous familial hypercholesterolemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5066052013	Compound heterozygous familial hypercholesterolaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6158121000241114	hypercholestérolémie familiale concomitante de et due à des mutations combinées hétérozygotes du récepteur des LDL (low density lipoproteins) et de la protéine adaptatrice de type 1 du récepteur des LDL (low density lipoproteins)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6158131000241111	hypercholestérolémie familiale concomitante de et due à des mutations combinées hétérozygotes du récepteur des lipoprotéines de basse densité et de la protéine adaptatrice de type 1 du récepteur des lipoprotéines de basse densité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6158141000241118	hypercholestérolémie familiale hétérozygote double	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6158121000241114	hypercholestérolémie familiale concomitante de et due à des mutations combinées hétérozygotes du récepteur des LDL (low density lipoproteins) et de la protéine adaptatrice de type 1 du récepteur des LDL (low density lipoproteins)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6158131000241111	hypercholestérolémie familiale concomitante de et due à des mutations combinées hétérozygotes du récepteur des lipoprotéines de basse densité et de la protéine adaptatrice de type 1 du récepteur des lipoprotéines de basse densité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6158141000241118	hypercholestérolémie familiale hétérozygote double	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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