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Terminology chevron_right Concepts chevron_right 1003415002

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Component

1003415002

The component that hold information about this concept.

Fully Specified Name (FSN)

Medial duplication of long arm of chromosome 1 (disorder)

Shortest Term

Medial duplication of long arm of chromosome 1

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

Medial duplication of long arm of chromosome 1 (disorder)

SCTID: 1003415002, Primitive, Active

1003415002|Medial duplication of long arm of chromosome 1 (disorder)|

en Medial duplication of long arm of chromosome 1
en Medial duplication of long arm of chromosome 1 (disorder)

Expression

1003415002 |Medial duplication of long arm of chromosome 1 (disorder)|
 <<< 768931007 |Partial trisomy of long arm of chromosome 1 (disorder)| : 
        { 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)| }
        { 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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4168197016 - Medial duplication of long arm of chromosome 1 (en) View
4168197016	en	Synonym (core metadata concept)	Medial duplication of long arm of chromosome 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4168198014 - Medial duplication of long arm of chromosome 1 (disorder) (en) View
4168198014	en	Fully specified name (core metadata concept)	Medial duplication 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 (13184522022) - 1003415002 -> 64329008 (116676008) View
116676008 \|Associated morphology (attribute)\|	64329008 \|Deletion of long arm (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13184523028) - 1003415002 -> 312242007 (363698007) View
363698007 \|Finding site (attribute)\|	312242007 \|Long arm of chromosome (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13184524023) - 1003415002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13184529029) - 1003415002 -> 768927001 (116680003) View
116680003 \|Is a (attribute)\|	768927001 \|Trisomy 1q syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13763780023) - 1003415002 -> 768931007 (116680003) View
116680003 \|Is a (attribute)\|	768931007 \|Partial trisomy of long arm of chromosome 1 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13184519020) - 1003415002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13184520025) - 1003415002 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13184521026) - 1003415002 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13184530023) - 1003415002 -> 312242007 (363698007) View
363698007 \|Finding site (attribute)\|	312242007 \|Long arm of chromosome (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13184531022) - 1003415002 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13184532026) - 1003415002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
768931007 View
768931007	Partial trisomy of long arm of chromosome 1 (disorder)	Partial trisomy of long arm 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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (dec2a92b-32cb-5928-a888-6cbeead66eff) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q92.3	TRUE	ALWAYS Q92.3	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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