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Terminology chevron_right Concepts chevron_right 768931007

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Component

768931007

The component that hold information about this concept.

Fully Specified Name (FSN)

Partial trisomy of long arm of chromosome 1 (disorder)

Shortest Term

Partial trisomy of long arm of chromosome 1

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 long arm of chromosome 1 (disorder)

SCTID: 768931007, Defined, Active

768931007|Partial trisomy of long arm of chromosome 1 (disorder)|

en Partial duplication of long arm of chromosome 1
en Partial trisomy of long arm of chromosome 1
en Partial trisomy of long arm of chromosome 1 (disorder)

Expression

768931007 |Partial trisomy of long arm of chromosome 1 (disorder)|
 === 726338000 |Partial trisomy of chromosome 1 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 312242007 |Long 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)| = 46507000 |Chromosome pair 1 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3687528019 - Partial duplication of long arm of chromosome 1 (en) View
3687528019	en	Synonym (core metadata concept)	Partial duplication of long arm of chromosome 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3687530017 - Partial trisomy of long arm of chromosome 1 (en) View
3687530017	en	Synonym (core metadata concept)	Partial trisomy of long arm of chromosome 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3687529010 - Partial trisomy of long arm of chromosome 1 (disorder) (en) View
3687529010	en	Fully specified name (core metadata concept)	Partial trisomy of long arm of chromosome 1 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9465085028) - 768931007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9465086027) - 768931007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9465087020) - 768931007 -> 312242007 (363698007) View
363698007 \|Finding site (attribute)\|	312242007 \|Long arm of chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9465088026) - 768931007 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9465089023) - 768931007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9465090025) - 768931007 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9465091026) - 768931007 -> 726338000 (116680003) View
116680003 \|Is a (attribute)\|	726338000 \|Partial trisomy of chromosome 1 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
726338000 View
726338000	Partial trisomy of chromosome 1 (disorder)	Duplication of chromosome 1	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
897544003 View
897544003	Distal trisomy 1q (disorder)	Distal trisomy 1q	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003389000 View
1003389000	Mosaic 1q duplication (disorder)	Mosaic 1q duplication	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1003415002 View
1003415002	Medial duplication of long arm of chromosome 1 (disorder)	Medial duplication of long arm of chromosome 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003906000 View
1003906000	Proximal duplication of long arm of chromosome 1 (disorder)	Proximal duplication of long arm of chromosome 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771337007 View
771337007	1q21.1 microduplication syndrome (disorder)	Trisomy 1q21.1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
768927001 View
768927001	Trisomy 1q syndrome (disorder)	Duplication 1q	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 (f9a57bc9-4283-5cc2-9987-5d7ff2072b9b) 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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