767133009: familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density lipoprotein receptor' en 'low-density lipoprotein receptor adaptor protein-1' (aandoening)

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)\Double heterozygous familial hypercholesterolaemia
\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)\Double heterozygous familial hypercholesterolaemia
\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)\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 (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\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\Familial hypercholesterolemia (disorder)\Double heterozygous familial hypercholesterolaemia
\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)\Double heterozygous familial hypercholesterolaemia
\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)\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\Familial hypercholesterolemia (disorder)\Double heterozygous familial hypercholesterolaemia
\Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Double heterozygous familial hypercholesterolaemia

\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)\Double heterozygous familial hypercholesterolaemia
\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)\Double heterozygous familial hypercholesterolaemia
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\Double heterozygous familial hypercholesterolaemia
\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)\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\Familial hypercholesterolemia (disorder)\Double heterozygous familial hypercholesterolaemia
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\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\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)\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
3664438010 Compound familial hypercholesterolaemia en Synonym (core metadata concept) Inactive 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) Inactive 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
6022811000146116 familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density-lipoprotein'-receptor en 'low-density-lipoprotein'-receptoradaptorproteïne 1 nl Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6022821000146114 familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density-lipoprotein'-receptor en 'low-density-lipoprotein'-receptoradaptorproteïne 1 (aandoening) nl Fully specified name Inactive Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6023541000146111 familiale hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density-lipoprotein'-receptor en 'low-density-lipoprotein'-receptoradaptorproteïne 1 nl Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7257991000146112 familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in LDL-receptor en LDL-receptoradaptorproteïne 1 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12260661000146118 familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density lipoprotein receptor' en 'low-density lipoprotein receptor adaptor protein-1' (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12260671000146112 familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density lipoprotein receptor' en 'low-density lipoprotein receptor adaptor protein-1' nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12260681000146114 familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density lipoprotein receptor' en LDLRAP1 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 hypercholesterolemia (disorder)	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 (procedure)	true	Inferred relationship	Some	1
Double heterozygous familial hypercholesterolaemia	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

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

This concept is not in any reference sets

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 (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)	Inactive	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)	Inactive	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
6022811000146116	familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density-lipoprotein'-receptor en 'low-density-lipoprotein'-receptoradaptorproteïne 1	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6022821000146114	familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density-lipoprotein'-receptor en 'low-density-lipoprotein'-receptoradaptorproteïne 1 (aandoening)	nl	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6023541000146111	familiale hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density-lipoprotein'-receptor en 'low-density-lipoprotein'-receptoradaptorproteïne 1	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7257991000146112	familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in LDL-receptor en LDL-receptoradaptorproteïne 1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12260661000146118	familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density lipoprotein receptor' en 'low-density lipoprotein receptor adaptor protein-1' (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12260671000146112	familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density lipoprotein receptor' en 'low-density lipoprotein receptor adaptor protein-1'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12260681000146114	familiaire hypercholesterolemie gelijktijdig met en door gecombineerde heterozygote mutaties in 'low-density lipoprotein receptor' en LDLRAP1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)