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Terminology chevron_right Concepts chevron_right 1003905001

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Component

1003905001

The component that hold information about this concept.

Fully Specified Name (FSN)

Proximal duplication of chromosome 21 (disorder)

Shortest Term

Proximal duplication of chromosome 21

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

Proximal duplication of chromosome 21 (disorder)

SCTID: 1003905001, Primitive, Active

1003905001|Proximal duplication of chromosome 21 (disorder)|

en Proximal duplication of chromosome 21
en Proximal duplication of chromosome 21 (disorder)

Expression

1003905001 |Proximal duplication of chromosome 21 (disorder)|
 <<< 726361003 |Partial trisomy of chromosome 21 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 43009003 |Chromosome pair 21 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4166936017 - Proximal duplication of chromosome 21 (en) View
4166936017	en	Synonym (core metadata concept)	Proximal duplication of chromosome 21	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4166935018 - Proximal duplication of chromosome 21 (disorder) (en) View
4166935018	en	Fully specified name (core metadata concept)	Proximal duplication of chromosome 21 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13191413023) - 1003905001 -> 726361003 (116680003) View
116680003 \|Is a (attribute)\|	726361003 \|Partial trisomy of chromosome 21 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13191414028) - 1003905001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13191415027) - 1003905001 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13191416026) - 1003905001 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
726361003 View
726361003	Partial trisomy of chromosome 21 (disorder)	Duplication of chromosome 21	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 (caad7834-f369-5a1a-a1b5-6aa001f0279b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q90.9	TRUE	ALWAYS Q90.9	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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