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 high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
\Finding of substance level\Finding of blood substance level\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
\Finding of substance level\Finding of blood substance level\Serum lipid levels - finding\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
\Finding of substance level\Lipid level - finding\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
\Finding of substance level\Lipid level - finding\Serum lipid levels - finding\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
\Finding of substance level\Lipid level - finding\Cholesterol level - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
\Finding of substance level\Lipid level - finding\Lipids abnormal\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
\Finding of substance level\Lipid level - finding\Lipids abnormal\Lipid above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
\Finding of substance level\Lipid level - finding\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia

\Measurement finding outside reference range\Measurement finding above reference range\Blood substance level above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
\Measurement finding outside reference range\Lipids abnormal\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
\Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia
\Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\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\LDL 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\Double heterozygous familial hypercholesterolaemia
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Double heterozygous familial hypercholesterolaemia

Status: current, Primitive. 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 Active Case insensitive SNOMED CT core

3664437017 Double heterozygous familial hypercholesterolaemia en Synonym Active Case insensitive SNOMED CT core

3664439019 Double heterozygous familial hypercholesterolemia en Synonym Active Case insensitive 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 Active Case insensitive 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 Case insensitive SNOMED CT core

5066051018 Compound heterozygous familial hypercholesterolemia en Synonym Active Case insensitive SNOMED CT core

5066052013 Compound heterozygous familial hypercholesterolaemia en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Family history of double heterozygous familial hypercholesterolaemia	Associated finding	True	Double heterozygous familial hypercholesterolaemia	Inferred relationship	Some	1

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

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	Case insensitive	SNOMED CT core
3664437017	Double heterozygous familial hypercholesterolaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3664439019	Double heterozygous familial hypercholesterolemia	en	Synonym	Active	Case insensitive	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	Active	Case insensitive	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	Case insensitive	SNOMED CT core
5066051018	Compound heterozygous familial hypercholesterolemia	en	Synonym	Active	Case insensitive	SNOMED CT core
5066052013	Compound heterozygous familial hypercholesterolaemia	en	Synonym	Active	Case insensitive	SNOMED CT core