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Terminology chevron_right Concepts chevron_right 726352003

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Component

726352003

The component that hold information about this concept.

Fully Specified Name (FSN)

Partial trisomy of chromosome 13 (disorder)

Shortest Term

Duplication of chromosome 13

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

Partial trisomy of chromosome 13 (disorder)

SCTID: 726352003, Defined, Active

726352003|Partial trisomy of chromosome 13 (disorder)|

en Duplication of chromosome 13
en Partial trisomy of chromosome 13
en Partial trisomy of chromosome 13 (disorder)

Expression

726352003 |Partial trisomy of chromosome 13 (disorder)|
 === 17760001 |Anomaly of chromosome pair 13 (disorder)| + 
270521004 |Trisomy and partial trisomy of autosome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 55401003 |Chromosome pair 13 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3498304013 - Duplication of chromosome 13 (en) View
3498304013	en	Synonym (core metadata concept)	Duplication of chromosome 13	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3498303019 - Partial trisomy of chromosome 13 (en) View
3498303019	en	Synonym (core metadata concept)	Partial trisomy of chromosome 13	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3498305014 - Partial trisomy of chromosome 13 (disorder) (en) View
3498305014	en	Fully specified name (core metadata concept)	Partial trisomy of chromosome 13 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6993952024) - 726352003 -> 17760001 (116680003) View
116680003 \|Is a (attribute)\|	17760001 \|Anomaly of chromosome pair 13 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6993953025) - 726352003 -> 270521004 (116680003) View
116680003 \|Is a (attribute)\|	270521004 \|Trisomy and partial trisomy of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6993954020) - 726352003 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6993955021) - 726352003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6993956022) - 726352003 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
17760001 View
17760001	Anomaly of chromosome pair 13 (disorder)	Anomaly of chromosome pair 13	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
270521004 View
270521004	Trisomy and partial trisomy of autosome (disorder)	Trisomy and partial trisomy of autosome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
897549008 View
897549008	Distal duplication of chromosome 13 (disorder)	Distal duplication of chromosome 13	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003416001 View
1003416001	Medial duplication of chromosome 13 (disorder)	Medial duplication of chromosome 13	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003909007 View
1003909007	Proximal duplication of chromosome 13 (disorder)	Proximal duplication of chromosome 13	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
10572007 View
10572007	13q partial trisomy syndrome (disorder)	13q partial trisomy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
548004 View
548004	13p partial trisomy syndrome (disorder)	13p partial trisomy syndrome	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 (ab99dc73-5bb9-535c-abf8-0fe95277e4a3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q91.7	TRUE	ALWAYS Q91.7	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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