dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 398036000

Production

add

Component

398036000

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: 398036000, Primitive, Active

398036000|Familial hypercholesterolemia (disorder)|

vi Tăng cholesterol máu gia đình
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 Ldl - low density lipoprotein receptor disorder
en Ldl receptor disorder

Expression

398036000 |Familial hypercholesterolemia (disorder)|
 <<< 238076009 |Primary hypercholesterolemia (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 412808005 |Serum total cholesterol measurement (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
556161000003112 - tăng cholesterol máu gia đình (vi) View
556161000003112	vi	Synonym (core metadata concept)	tăng cholesterol máu gia đình	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1783623015 - Essential familial hypercholesterolaemia (en) View
1783623015	en	Synonym (core metadata concept)	Essential familial hypercholesterolaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1784011016 - Essential familial hypercholesterolemia (en) View
1784011016	en	Synonym (core metadata concept)	Essential familial hypercholesterolemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1783622013 - Familial hyperbetalipoproteinaemia (en) View
1783622013	en	Synonym (core metadata concept)	Familial hyperbetalipoproteinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1784012011 - Familial hyperbetalipoproteinemia (en) View
1784012011	en	Synonym (core metadata concept)	Familial hyperbetalipoproteinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1773186016 - Familial hypercholesterolaemia (en) View
1773186016	en	Synonym (core metadata concept)	Familial hypercholesterolaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1774472018 - Familial hypercholesterolemia (en) View
1774472018	en	Synonym (core metadata concept)	Familial hypercholesterolemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1765955013 - Familial hypercholesterolemia (disorder) (en) View
1765955013	en	Fully specified name (core metadata concept)	Familial hypercholesterolemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1786061010 - Low density lipoprotein catabolic defect (en) View
1786061010	en	Synonym (core metadata concept)	Low density lipoprotein catabolic defect	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1786060011 - LDL - Low density lipoprotein receptor disorder (en) View
1786060011	en	Synonym (core metadata concept)	LDL - Low density lipoprotein receptor disorder	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1786059018 - LDL receptor disorder (en) View
1786059018	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 (3802078029) - 398036000 -> 166830008 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	166830008 \|Serum cholesterol above reference range (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9358257024) - 398036000 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9536085022) - 398036000 -> 412808005 (363714003) View
363714003 \|Interprets (attribute)\|	412808005 \|Serum total cholesterol measurement (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2281789020) - 398036000 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2243076026) - 398036000 -> 238076009 (116680003) View
116680003 \|Is a (attribute)\|	238076009 \|Primary hypercholesterolemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
238076009 View
238076009	Primary hypercholesterolemia (disorder)	Primary hypercholesterolemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
767133009 View
767133009	Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder)	Compound familial hypercholesterolemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
397915002 View
397915002	Fredrickson type iia hyperlipoproteinemia (disorder)	Fredrickson type iia hyperlipoproteinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403829002 View
403829002	Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder)	Familial hypercholesterolemia due to heterozygous ldl receptor mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403831006 View
403831006	Familial hypercholesterolemia due to genetic defect of apolipoprotein b (disorder)	Familial combined hypercholesterolemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238078005 View
238078005	Familial hypercholesterolemia - homozygous (disorder)	Familial homozygous hypercholesterolemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238079002 View
238079002	Familial hypercholesterolemia - heterozygous (disorder)	Familial hypercholesterolemia - heterozygous	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (bd088549-5430-595d-8fa8-0e343e8e96cc) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E78.0	TRUE	ALWAYS E78.0	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

Terminology chevron_right Concepts chevron_right 398036000

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches