238078005: Familial hypercholesterolemia - homozygous (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\Familial homozygous 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\Familial homozygous 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\Familial homozygous 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\Familial homozygous hypercholesterolaemia
\Finding of substance level\Lipid level - finding\Serum lipid levels - finding\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial homozygous 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\Familial homozygous hypercholesterolaemia
\Finding of substance level\Lipid level - finding\Lipids abnormal\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial homozygous 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\Familial homozygous hypercholesterolaemia
\Finding of substance level\Lipid level - finding\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial homozygous 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\Familial homozygous 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\Familial homozygous hypercholesterolaemia
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial homozygous hypercholesterolaemia
\Measurement finding outside reference range\Lipids abnormal\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial homozygous hypercholesterolaemia
\Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial homozygous hypercholesterolaemia
\Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial homozygous hypercholesterolaemia

\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidaemia\Hypercholesterolaemia\Primary hypercholesterolaemia\Familial hypercholesterolaemia\Familial homozygous hypercholesterolaemia

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3037192013 Familial homozygous hypercholesterolemia en Synonym Active Case insensitive SNOMED CT core

3037302012 Familial homozygous hypercholesterolaemia en Synonym Active Case insensitive SNOMED CT core

356871018 Familial hypercholesterolemia - homozygous en Synonym Active Case insensitive SNOMED CT core

356872013 Familial hypercholesterolaemia - homozygous en Synonym Active Case insensitive SNOMED CT core

626911018 Familial hypercholesterolemia - homozygous (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial homozygous hypercholesterolaemia	Is a	Familial hypercholesterolaemia	true	Inferred relationship	Some
Familial homozygous hypercholesterolaemia	Has definitional manifestation	Serum cholesterol raised	false	Inferred relationship	Some
Familial homozygous hypercholesterolaemia	Finding site	Body system structure	false	Inferred relationship	Some
Familial homozygous hypercholesterolaemia	Occurrence	Congenital	false	Inferred relationship	Some
Familial homozygous hypercholesterolaemia	Is a	Familial hypercholesterolaemia	false	Inferred relationship	Some
Familial homozygous hypercholesterolaemia	Has interpretation	Above reference range	true	Inferred relationship	Some	1
Familial homozygous hypercholesterolaemia	Interprets	Serum total cholesterol measurement	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
3037192013	Familial homozygous hypercholesterolemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3037302012	Familial homozygous hypercholesterolaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
356871018	Familial hypercholesterolemia - homozygous	en	Synonym	Active	Case insensitive	SNOMED CT core
356872013	Familial hypercholesterolaemia - homozygous	en	Synonym	Active	Case insensitive	SNOMED CT core
626911018	Familial hypercholesterolemia - homozygous (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core