31654005: Familial hypercholesterolemia (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

52889018 Familial hypercholesterolemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

52890010 Familial hyperbetalipoproteinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

52891014 Low density lipoprotein catabolic defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

52892019 Essential familial hypercholesterolemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

52893012 LDL receptor disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

484936011 LDL - Low density lipoprotein receptor disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

484937019 Essential familial hypercholesterolaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

484938012 Fredrickson type IIa hyperlipoproteinaemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

484939016 Familial hyperlipoproteinaemia type IIa en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

484940019 Familial hyperbetalipoproteinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

484941015 Familial hypercholesterolaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

484942010 Familial hyperlipoproteinemia type IIa en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

484943017 Fredrickson type IIa hyperlipoproteinemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

762799013 Familial hypercholesterolemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypercholesterolemia	Is a	Primary hypercholesterolemia	false	Inferred relationship	Some
Familial hypercholesterolemia	Finding site	Body system structure	false	Inferred relationship	Some
Familial hypercholesterolemia	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial hypercholesterolemia - homozygous	Is a	False	Familial hypercholesterolemia	Inferred relationship	Some
Familial hypercholesterolaemia - heterozygous	Is a	False	Familial hypercholesterolemia	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)