238081000: Familial defective apolipoprotein B-100 (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 defective apolipoprotein B-100
\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 defective apolipoprotein B-100
\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 defective apolipoprotein B-100
\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 defective apolipoprotein B-100
\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 defective apolipoprotein B-100
\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 defective apolipoprotein B-100
\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 defective apolipoprotein B-100
\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 defective apolipoprotein B-100
\Finding of substance level\Finding of lipid level\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial defective apolipoprotein B-100

\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 defective apolipoprotein B-100
\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 defective apolipoprotein B-100
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial defective apolipoprotein B-100
\Measurement finding outside reference range\Lipids outside reference range\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial defective apolipoprotein B-100
\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 defective apolipoprotein B-100
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial defective apolipoprotein B-100

\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial defective apolipoprotein B-100

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

356877019 FDB - Familial defective apolipoprotein B-100 en Synonym Active Entire term case sensitive SNOMED CT core module

356878012 Familial defective apolipoprotein B-100 en Synonym Active Only initial character case insensitive SNOMED CT core module

626914014 Familial defective apolipoprotein B-100 (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

1736451000000119 Familial hypercholesterolaemia due to genetic defect of apolipoprotein B-100 en Synonym Active Only initial character case insensitive SNOMED CT United Kingdom Edition module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial defective apolipoprotein B-100	Is a	Primary hypercholesterolemia	true	Inferred relationship	Existential restriction modifier
Familial defective apolipoprotein B-100	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Familial defective apolipoprotein B-100	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Familial defective apolipoprotein B-100	Has definitional manifestation	Serum cholesterol above reference range	false	Inferred relationship	Existential restriction modifier
Familial defective apolipoprotein B-100	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	1
Familial defective apolipoprotein B-100	Interprets	Serum total cholesterol measurement	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356877019	FDB - Familial defective apolipoprotein B-100	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
356878012	Familial defective apolipoprotein B-100	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
626914014	Familial defective apolipoprotein B-100 (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
1736451000000119	Familial hypercholesterolaemia due to genetic defect of apolipoprotein B-100	en	Synonym	Active	Only initial character case insensitive	SNOMED CT United Kingdom Edition module