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\...

\Evaluation finding\Measurement finding\...

\Finding of substance level\Finding of blood substance level\Blood substance level above reference range\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
\Finding of substance level\Finding of blood substance level\Finding of serum lipid levels\Finding of serum cholesterol level\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
\Finding of substance level\Finding of blood substance level\Finding of serum lipid levels\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
\Finding of substance level\Finding of lipid level\Finding of serum lipid levels\Finding of serum cholesterol level\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
\Finding of substance level\Finding of lipid level\Finding of serum lipid levels\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
\Finding of substance level\Finding of lipid level\Finding of cholesterol level\Finding of serum cholesterol level\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
\Finding of substance level\Finding of lipid level\Lipids outside reference range\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
\Finding of substance level\Finding of lipid level\Lipids outside reference range\Lipid above reference range\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
\Finding of substance level\Finding of lipid level\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations

\Measurement finding outside reference range\Measurement finding above reference range\Blood substance level above reference range\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
\Measurement finding outside reference range\Lipids outside reference range\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Low density lipoprotein receptor mutation\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\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia\Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations

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

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 Active Entire term case insensitive SNOMED CT core module
3664437017 Double heterozygous familial hypercholesterolaemia en Synonym Active Entire term case insensitive SNOMED CT core module
3664438010 Compound familial hypercholesterolaemia en Synonym Inactive Entire term case insensitive SNOMED CT core module
3664439019 Double heterozygous familial hypercholesterolemia en Synonym Active Entire term case insensitive SNOMED CT core module
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 Active Entire term case insensitive SNOMED CT core module
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 SNOMED CT core module
3780609017 Compound familial hypercholesterolemia en Synonym Inactive Entire term case insensitive SNOMED CT core module
5066051018 Compound heterozygous familial hypercholesterolemia en Synonym Active Entire term case insensitive SNOMED CT core module
5066052013 Compound heterozygous familial hypercholesterolaemia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations	Is a	Familial hypercholesterolemia	true	Inferred relationship	Existential restriction modifier
Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations	Is a	Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations	true	Inferred relationship	Existential restriction modifier
Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations	Due to	Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations	true	Inferred relationship	Existential restriction modifier	2
Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	1
Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations	Interprets	Serum total cholesterol measurement	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Family history of double heterozygous familial hypercholesterolemia	Associated finding	True	Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations	Inferred relationship	Existential restriction modifier	1

This concept is not in any reference sets

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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	Active	Entire term case insensitive	SNOMED CT core module
3664437017	Double heterozygous familial hypercholesterolaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3664438010	Compound familial hypercholesterolaemia	en	Synonym	Inactive	Entire term case insensitive	SNOMED CT core module
3664439019	Double heterozygous familial hypercholesterolemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
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	Active	Entire term case insensitive	SNOMED CT core module
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	SNOMED CT core module
3780609017	Compound familial hypercholesterolemia	en	Synonym	Inactive	Entire term case insensitive	SNOMED CT core module
5066051018	Compound heterozygous familial hypercholesterolemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5066052013	Compound heterozygous familial hypercholesterolaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module