398036000: Familial hypercholesterolemia (disorder)

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

\Procedure related finding\Lipids outside reference range\Lipid above reference range\...

\Serum cholesterol above reference range\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)

\Hyperlipidaemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)

\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidaemia\Hypercholesterolemia\Primary hypercholesterolemia\Familial hypercholesterolemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

1765955013 Familial hypercholesterolemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

1773186016 Familial hypercholesterolaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

1774472018 Familial hypercholesterolemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

1783622013 Familial hyperbetalipoproteinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

1783623015 Essential familial hypercholesterolaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

1784011016 Essential familial hypercholesterolemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

1784012011 Familial hyperbetalipoproteinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

1786059018 LDL receptor disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

1786060011 LDL - Low density lipoprotein receptor disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

1786061010 Low density lipoprotein catabolic defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypercholesterolemia (disorder)	Is a	Primary hypercholesterolemia	true	Inferred relationship	Some
Familial hypercholesterolemia (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	1
Familial hypercholesterolemia (disorder)	Interprets	Serum total cholesterol measurement (procedure)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary