398036000: hypercholestérolémie familiale (trouble)

SNOMED CT Concept\constatation clinique\...

\Evaluation finding\Measurement finding\...

\Finding of substance level (finding)\Lipid level - finding\...

\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol abnormal\taux de cholestérol sérique augmenté\hypercholestérolémie\hypercholestérolémie primitive\Familial hypercholesterolemia (disorder)
\Serum lipid levels - finding\Serum lipids high\taux de cholestérol sérique augmenté\hypercholestérolémie\hypercholestérolémie primitive\Familial hypercholesterolemia (disorder)

\Cholesterol level - finding\Serum cholesterol level - finding\Serum cholesterol abnormal\taux de cholestérol sérique augmenté\hypercholestérolémie\hypercholestérolémie primitive\Familial hypercholesterolemia (disorder)

\Lipids abnormal\Serum cholesterol abnormal\taux de cholestérol sérique augmenté\hypercholestérolémie\hypercholestérolémie primitive\Familial hypercholesterolemia (disorder)
\Lipids abnormal\Increased lipid\Serum lipids high\taux de cholestérol sérique augmenté\hypercholestérolémie\hypercholestérolémie primitive\Familial hypercholesterolemia (disorder)
\Lipids abnormal\Increased lipid\hyperlipidémie\hypercholestérolémie\hypercholestérolémie primitive\Familial hypercholesterolemia (disorder)

\Measurement finding outside reference range\Measurement finding above reference range\Increased lipid\Serum lipids high\taux de cholestérol sérique augmenté\hypercholestérolémie\hypercholestérolémie primitive\Familial hypercholesterolemia (disorder)
\Measurement finding outside reference range\Measurement finding above reference range\Increased lipid\hyperlipidémie\hypercholestérolémie\hypercholestérolémie primitive\Familial hypercholesterolemia (disorder)
\Measurement finding outside reference range\Lipids abnormal\Serum cholesterol abnormal\taux de cholestérol sérique augmenté\hypercholestérolémie\hypercholestérolémie primitive\Familial hypercholesterolemia (disorder)
\Measurement finding outside reference range\Lipids abnormal\Increased lipid\Serum lipids high\taux de cholestérol sérique augmenté\hypercholestérolémie\hypercholestérolémie primitive\Familial hypercholesterolemia (disorder)
\Measurement finding outside reference range\Lipids abnormal\Increased lipid\hyperlipidémie\hypercholestérolémie\hypercholestérolémie primitive\Familial hypercholesterolemia (disorder)

\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\troubles du stockage et du métabolisme des lipoprotéines\hyperlipidémie\hypercholestérolémie\hypercholestérolémie primitive\Familial hypercholesterolemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypercholesterolemia (disorder)	est un(e) (attribut)	hypercholestérolémie primitive	true	Inferred relationship	Some
Familial hypercholesterolemia (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Familial hypercholesterolemia (disorder)	est défini par la manifestation de (attribut)	taux de cholestérol sérique augmenté	false	Inferred relationship	Some
Familial hypercholesterolemia (disorder)	a pour interprétation (attribut)	au-dessus de l'étendue de référence	true	Inferred relationship	Some	1
Familial hypercholesterolemia (disorder)	interprète (attribut)	Serum total cholesterol measurement (procedure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial hypercholesterolemia - homozygous	est un(e) (attribut)	True	Familial hypercholesterolemia (disorder)	Inferred relationship	Some
Familial hypercholesterolaemia - heterozygous	est un(e) (attribut)	True	Familial hypercholesterolemia (disorder)	Inferred relationship	Some
Fredrickson type IIa hyperlipoproteinemia (disorder)	est un(e) (attribut)	True	Familial hypercholesterolemia (disorder)	Inferred relationship	Some
Familial hypercholesterolaemia due to heterozygous LDL receptor mutation	est un(e) (attribut)	True	Familial hypercholesterolemia (disorder)	Inferred relationship	Some
Familial hypercholesterolaemia due to homozygous LDL receptor mutation	est un(e) (attribut)	True	Familial hypercholesterolemia (disorder)	Inferred relationship	Some
Familial hypercholesterolemia due to genetic defect of apolipoprotein B (disorder)	est un(e) (attribut)	True	Familial hypercholesterolemia (disorder)	Inferred relationship	Some
Family history of familial hypercholesterolemia (situation)	constatation associée (attribut)	False	Familial hypercholesterolemia (disorder)	Inferred relationship	Some	1
Family history of familial hypercholesterolemia (situation)	constatation associée (attribut)	True	Familial hypercholesterolemia (disorder)	Inferred relationship	Some	1
Possible familial hypercholesterolemia (situation)	constatation associée (attribut)	True	Familial hypercholesterolemia (disorder)	Inferred relationship	Some	1
Double heterozygous familial hypercholesterolaemia	est un(e) (attribut)	True	Familial hypercholesterolemia (disorder)	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1765955013	Familial hypercholesterolemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1773186016	Familial hypercholesterolaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1774472018	Familial hypercholesterolemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1783622013	Familial hyperbetalipoproteinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1783623015	Essential familial hypercholesterolaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1784011016	Essential familial hypercholesterolemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1784012011	Familial hyperbetalipoproteinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786059018	LDL receptor disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786060011	LDL - Low density lipoprotein receptor disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786061010	Low density lipoprotein catabolic defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
203551000172116	hypercholestérolémie familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
629191000241115	hypercholestérolémie familiale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)