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Terminology chevron_right Concepts chevron_right 726373003

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Component

726373003

The component that hold information about this concept.

Fully Specified Name (FSN)

Deletion of part of long arm of chromosome 5 (disorder)

Shortest Term

Deletion of part of long arm of chromosome 5

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

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

Summary

Deletion of part of long arm of chromosome 5 (disorder)

SCTID: 726373003, Defined, Active

726373003|Deletion of part of long arm of chromosome 5 (disorder)|

en Deletion of part of long arm of chromosome 5
en Deletion of part of long arm of chromosome 5 (disorder)

Expression

726373003 |Deletion of part of long arm of chromosome 5 (disorder)|
 === 726372008 |Deletion of part of chromosome 5 (disorder)|
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 312242007 |Long arm of chromosome (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 12399004 |Chromosome pair 5 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3464719011 - Deletion of part of long arm of chromosome 5 (en) View
3464719011	en	Synonym (core metadata concept)	Deletion of part of long arm of chromosome 5	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3464718015 - Deletion of part of long arm of chromosome 5 (disorder) (en) View
3464718015	en	Fully specified name (core metadata concept)	Deletion of part of long arm of chromosome 5 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6971018024) - 726373003 -> 64329008 (116676008) View
116676008 \|Associated morphology (attribute)\|	64329008 \|Deletion of long arm (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6971020022) - 726373003 -> 12399004 (363698007) View
363698007 \|Finding site (attribute)\|	12399004 \|Chromosome pair 5 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13779060023) - 726373003 -> 312242007 (363698007) View
363698007 \|Finding site (attribute)\|	312242007 \|Long arm of chromosome (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13779061022) - 726373003 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6971017025) - 726373003 -> 726372008 (116680003) View
116680003 \|Is a (attribute)\|	726372008 \|Deletion of part of chromosome 5 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6971019027) - 726373003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6971021021) - 726373003 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6971022025) - 726373003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6971023024) - 726373003 -> 12399004 (363698007) View
363698007 \|Finding site (attribute)\|	12399004 \|Chromosome pair 5 (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
726372008 View
726372008	Deletion of part of chromosome 5 (disorder)	Deletion of part of chromosome 5	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1216940001 View
1216940001	Joint contractures, developmental delay, pierre robin syndrome (disorder)	5q23 microdeletion syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
890124000 View
890124000	5q22.2 deletion syndrome (disorder)	5q22.2 deletion syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003392001 View
1003392001	Medial deletion of long arm of chromosome 5 (disorder)	Medial deletion of long arm of chromosome 5	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003898009 View
1003898009	Proximal deletion of long arm of chromosome 5 (disorder)	Proximal deletion of long arm of chromosome 5	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
768555009 View
768555009	5q31.3 microdeletion syndrome (disorder)	5q31.3 microdeletion syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719661007 View
719661007	5q14.3 microdeletion syndrome (disorder)	Monosomy 5q14.3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721158009 View
721158009	Deletion 5q35 (disorder)	Deletion 5q35	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 (48c58c28-783e-5f3f-97e4-ca5a7f49cd44) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q93.5	TRUE	ALWAYS Q93.5	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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