31654005: Familial hypercholesterolemia (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

52889018 Familial hypercholesterolemia en Synonym Active Entire term case insensitive SNOMED CT core module
52890010 Familial hyperbetalipoproteinemia en Synonym Active Entire term case insensitive SNOMED CT core module
52891014 Low density lipoprotein catabolic defect en Synonym Active Entire term case insensitive SNOMED CT core module
52892019 Essential familial hypercholesterolemia en Synonym Active Entire term case insensitive SNOMED CT core module
52893012 LDL receptor disorder en Synonym Active Entire term case sensitive SNOMED CT core module
484936011 LDL - Low density lipoprotein receptor disorder en Synonym Active Entire term case sensitive SNOMED CT core module
484937019 Essential familial hypercholesterolaemia en Synonym Active Entire term case insensitive SNOMED CT core module
484938012 Fredrickson type IIa hyperlipoproteinaemia en Synonym Active Entire term case sensitive SNOMED CT core module
484939016 Familial hyperlipoproteinaemia type IIa en Synonym Active Only initial character case insensitive SNOMED CT core module
484940019 Familial hyperbetalipoproteinaemia en Synonym Active Entire term case insensitive SNOMED CT core module
484941015 Familial hypercholesterolaemia en Synonym Active Entire term case insensitive SNOMED CT core module
484942010 Familial hyperlipoproteinemia type IIa en Synonym Active Only initial character case insensitive SNOMED CT core module
484943017 Fredrickson type IIa hyperlipoproteinemia en Synonym Active Entire term case sensitive SNOMED CT core module
762799013 Familial hypercholesterolemia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial hypercholesterolemia - homozygous	Is a	False	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier
Familial hypercholesterolemia - heterozygous	Is a	False	Familial hypercholesterolemia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets