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Terminology chevron_right Concepts chevron_right 1290916005

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Component

1290916005

The component that hold information about this concept.

Fully Specified Name (FSN)

Haploinsufficiency of a20 (disorder)

Shortest Term

A20 haploinsufficiency

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

Haploinsufficiency of a20 (disorder)

SCTID: 1290916005, Primitive, Active

1290916005|Haploinsufficiency of a20 (disorder)|

en A20 haploinsufficiency
en Ha20 (haploinsufficiency a20)
en Haploinsufficiency of a20
en Haploinsufficiency of a20 (disorder)

Expression

1290916005 |Haploinsufficiency of a20 (disorder)|
 <<< 56019007 |Systemic disease (disorder)| + 
724593005 |Monogenic autoinflammatory syndrome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 409774005 |Inflammatory morphology (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 116003000 |Structure of immune system (body structure)|,
370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5276588014 - A20 haploinsufficiency (en) View
5276588014	en	Synonym (core metadata concept)	A20 haploinsufficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5276587016 - HA20 (haploinsufficiency A20) (en) View
5276587016	en	Synonym (core metadata concept)	HA20 (haploinsufficiency A20)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5276585012 - Haploinsufficiency of A20 (en) View
5276585012	en	Synonym (core metadata concept)	Haploinsufficiency of A20	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
5276586013 - Haploinsufficiency of A20 (disorder) (en) View
5276586013	en	Fully specified name (core metadata concept)	Haploinsufficiency of A20 (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15779566020) - 1290916005 -> 56019007 (116680003) View
116680003 \|Is a (attribute)\|	56019007 \|Systemic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15779567027) - 1290916005 -> 724593005 (116680003) View
116680003 \|Is a (attribute)\|	724593005 \|Monogenic autoinflammatory syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15779568021) - 1290916005 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15779569029) - 1290916005 -> 409774005 (116676008) View
116676008 \|Associated morphology (attribute)\|	409774005 \|Inflammatory morphology (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15779570028) - 1290916005 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
724593005 View
724593005	Monogenic autoinflammatory syndrome (disorder)	Monogenic autoinflammatory syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
56019007 View
56019007	Systemic disease (disorder)	Systemic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1187119002 View
1187119002	Hereditary pediatric behçet-like disease (disorder)	Behçet-like disease due to ha20	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 (9858acb0-4a89-5966-98a4-96425cd4dc32) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D89.8	TRUE	ALWAYS D89.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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)\|

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