dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 31654005

Production

add

Component

31654005

The component that hold information about this concept.

Fully Specified Name (FSN)

Familial hypercholesterolemia (disorder)

Shortest Term

Ldl receptor disorder

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Familial hypercholesterolemia (disorder)

SCTID: 31654005, Primitive, Inactive

31654005|Familial hypercholesterolemia (disorder)|

en Essential familial hypercholesterolaemia
en Essential familial hypercholesterolemia
en Familial hyperbetalipoproteinaemia
en Familial hyperbetalipoproteinemia
en Familial hypercholesterolaemia
en Familial hypercholesterolemia
en Familial hypercholesterolemia (disorder)
en Low density lipoprotein catabolic defect
en Fredrickson type iia hyperlipoproteinemia
en Familial hyperlipoproteinaemia type iia
en Familial hyperlipoproteinemia type iia
en Fredrickson type iia hyperlipoproteinaemia
en Ldl - low density lipoprotein receptor disorder
en Ldl receptor disorder

Expression

31654005 |Familial hypercholesterolemia (disorder)|
 <<< 

Diagram

Active

Inactive

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
484937019 - Essential familial hypercholesterolaemia (en) View
484937019	en	Synonym (core metadata concept)	Essential familial hypercholesterolaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
52892019 - Essential familial hypercholesterolemia (en) View
52892019	en	Synonym (core metadata concept)	Essential familial hypercholesterolemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
484940019 - Familial hyperbetalipoproteinaemia (en) View
484940019	en	Synonym (core metadata concept)	Familial hyperbetalipoproteinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
52890010 - Familial hyperbetalipoproteinemia (en) View
52890010	en	Synonym (core metadata concept)	Familial hyperbetalipoproteinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
484941015 - Familial hypercholesterolaemia (en) View
484941015	en	Synonym (core metadata concept)	Familial hypercholesterolaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
52889018 - Familial hypercholesterolemia (en) View
52889018	en	Synonym (core metadata concept)	Familial hypercholesterolemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
762799013 - Familial hypercholesterolemia (disorder) (en) View
762799013	en	Fully specified name (core metadata concept)	Familial hypercholesterolemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
52891014 - Low density lipoprotein catabolic defect (en) View
52891014	en	Synonym (core metadata concept)	Low density lipoprotein catabolic defect	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
484943017 - Fredrickson type IIa hyperlipoproteinemia (en) View
484943017	en	Synonym (core metadata concept)	Fredrickson type IIa hyperlipoproteinemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
484939016 - Familial hyperlipoproteinaemia type IIa (en) View
484939016	en	Synonym (core metadata concept)	Familial hyperlipoproteinaemia type IIa	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
484942010 - Familial hyperlipoproteinemia type IIa (en) View
484942010	en	Synonym (core metadata concept)	Familial hyperlipoproteinemia type IIa	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
484938012 - Fredrickson type IIa hyperlipoproteinaemia (en) View
484938012	en	Synonym (core metadata concept)	Fredrickson type IIa hyperlipoproteinaemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
484936011 - LDL - Low density lipoprotein receptor disorder (en) View
484936011	en	Synonym (core metadata concept)	LDL - Low density lipoprotein receptor disorder	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
52893012 - LDL receptor disorder (en) View
52893012	en	Synonym (core metadata concept)	LDL receptor disorder	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (199482022) - 31654005 -> 238076009 (116680003) View
116680003 \|Is a (attribute)\|	238076009 \|Primary hypercholesterolemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (750996026) - 31654005 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (750997024) - 31654005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help

Terminology chevron_right Concepts chevron_right 31654005

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches