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Terminology chevron_right Concepts chevron_right 726359007

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Component

726359007

The component that hold information about this concept.

Fully Specified Name (FSN)

Partial trisomy of short arm of chromosome 19 (disorder)

Shortest Term

Duplication of short arm of chromosome 19

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 short arm of chromosome 19 (disorder)

SCTID: 726359007, Defined, Active

726359007|Partial trisomy of short arm of chromosome 19 (disorder)|

en Duplication of short arm of chromosome 19
en Partial trisomy of short arm of chromosome 19
en Partial trisomy of short arm of chromosome 19 (disorder)

Expression

726359007 |Partial trisomy of short arm of chromosome 19 (disorder)|
 === 726358004 |Partial trisomy of chromosome 19 (disorder)|
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 278145009 |Short arm of chromosome (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89959003 |Chromosome pair 19 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3498326014 - Duplication of short arm of chromosome 19 (en) View
3498326014	en	Synonym (core metadata concept)	Duplication of short arm of chromosome 19	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3498325013 - Partial trisomy of short arm of chromosome 19 (en) View
3498325013	en	Synonym (core metadata concept)	Partial trisomy of short arm of chromosome 19	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3498324012 - Partial trisomy of short arm of chromosome 19 (disorder) (en) View
3498324012	en	Fully specified name (core metadata concept)	Partial trisomy of short arm of chromosome 19 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6993987024) - 726359007 -> 726358004 (116680003) View
116680003 \|Is a (attribute)\|	726358004 \|Partial trisomy of chromosome 19 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6993988025) - 726359007 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6993989022) - 726359007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6993991025) - 726359007 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6993992021) - 726359007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7001655024) - 726359007 -> 278145009 (363698007) View
363698007 \|Finding site (attribute)\|	278145009 \|Short arm of chromosome (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7001656020) - 726359007 -> 89959003 (363698007) View
363698007 \|Finding site (attribute)\|	89959003 \|Chromosome pair 19 (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
726358004 View
726358004	Partial trisomy of chromosome 19 (disorder)	Duplication of chromosome 19	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1229883008 View
1229883008	19p13.3 microduplication syndrome (disorder)	19p13.3 microduplication 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 (b35ed7cc-aac5-5bba-9de9-2bfecaf99b79) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q92.8	TRUE	ALWAYS Q92.8	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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