238081000: Familial defective apolipoprotein B-100 (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Procedure related finding\Evaluation finding\Measurement finding\...

\Finding of substance level (finding)\Finding of blood substance level (finding)\Blood substance level above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial defective apolipoprotein B-100
\Finding of substance level (finding)\Finding of blood substance level (finding)\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial defective apolipoprotein B-100
\Finding of substance level (finding)\Finding of blood substance level (finding)\Serum lipid levels - finding\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial defective apolipoprotein B-100
\Finding of substance level (finding)\Lipid level - finding\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial defective apolipoprotein B-100
\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 (disorder)\Familial defective apolipoprotein B-100
\Finding of substance level (finding)\Lipid level - finding\Cholesterol level - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial defective apolipoprotein B-100
\Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial defective apolipoprotein B-100
\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 (disorder)\Familial defective apolipoprotein B-100
\Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Lipid above reference range\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial defective apolipoprotein B-100

\Measurement finding outside reference range\Measurement finding above reference range (finding)\Blood substance level above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial defective apolipoprotein B-100
\Measurement finding outside reference range\Measurement finding above reference range (finding)\Lipid above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial defective apolipoprotein B-100
\Measurement finding outside reference range\Measurement finding above reference range (finding)\Lipid above reference range\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\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 (disorder)\Familial defective apolipoprotein B-100
\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 (disorder)\Familial defective apolipoprotein B-100
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia (disorder)\Hypercholesterolemia\Primary hypercholesterolemia (disorder)\Familial defective apolipoprotein B-100

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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial defective apolipoprotein B-100	Is a	Primary hypercholesterolemia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial defective apolipoprotein B-100	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial defective apolipoprotein B-100	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial defective apolipoprotein B-100	Has definitional manifestation	Serum cholesterol above reference range	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial defective apolipoprotein B-100	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial defective apolipoprotein B-100	Interprets	Serum total cholesterol measurement (procedure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356878012	Familial defective apolipoprotein B-100	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626914014	Familial defective apolipoprotein B-100 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356877019	FDB - Familial defective apolipoprotein B-100	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356878012	Familial defective apolipoprotein B-100	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626914014	Familial defective apolipoprotein B-100 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6210761000241112	défaut familial de l'apolipoprotéine B-100	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6210771000241116	défaut familial de l'apo B-100	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6210761000241112	défaut familial de l'apolipoprotéine B-100	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6210771000241116	défaut familial de l'apo B-100	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module