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Terminology chevron_right Concepts chevron_right 554003

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Component

554003

The component that hold information about this concept.

Fully Specified Name (FSN)

2p partial trisomy syndrome (disorder)

Shortest Term

2p partial trisomy syndrome

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

2p partial trisomy syndrome (disorder)

SCTID: 554003, Primitive, Active

554003|2p partial trisomy syndrome (disorder)|

en 2p partial trisomy syndrome
en 2p partial trisomy syndrome (disorder)

Expression

554003 |2p partial trisomy syndrome (disorder)|
 <<< 726340005 |Partial trisomy of chromosome 2 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113354003 |Chromosome pair 2 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2000017 - 2p partial trisomy syndrome (en) View
2000017	en	Synonym (core metadata concept)	2p partial trisomy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
793752018 - 2p partial trisomy syndrome (disorder) (en) View
793752018	en	Fully specified name (core metadata concept)	2p partial trisomy syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (238181026) - 554003 -> 32299009 (116680003) View
116680003 \|Is a (attribute)\|	32299009 \|Anomaly of chromosome pair 2 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (238182022) - 554003 -> 270521004 (116680003) View
116680003 \|Is a (attribute)\|	270521004 \|Trisomy and partial trisomy of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6992825021) - 554003 -> 726340005 (116680003) View
116680003 \|Is a (attribute)\|	726340005 \|Partial trisomy of chromosome 2 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (811210023) - 554003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (811212026) - 554003 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3379061022) - 554003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5007617027) - 554003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010292024) - 554003 -> 113354003 (363698007) View
363698007 \|Finding site (attribute)\|	113354003 \|Chromosome pair 2 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024519021) - 554003 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3445281028) - 554003 -> 113354003 (363698007) View
363698007 \|Finding site (attribute)\|	113354003 \|Chromosome pair 2 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (811214025) - 554003 -> 113354003 (363698007) View
363698007 \|Finding site (attribute)\|	113354003 \|Chromosome pair 2 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2597950022) - 554003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (811211022) - 554003 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (811213020) - 554003 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
726340005 View
726340005	Partial trisomy of chromosome 2 (disorder)	Duplication of chromosome 2	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1003889006 View
1003889006	Proximal duplication of short arm of chromosome 2 (disorder)	Proximal duplication of short arm of chromosome 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764518004 View
764518004	Distal trisomy 2p (disorder)	Distal trisomy 2p	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 (e9ba23d0-0882-5478-8e91-a80149e1f4c2) 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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