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Terminology chevron_right Concepts chevron_right 5982001

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Component

5982001

The component that hold information about this concept.

Fully Specified Name (FSN)

2q partial trisomy syndrome (disorder)

Shortest Term

2q 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

2q partial trisomy syndrome (disorder)

SCTID: 5982001, Primitive, Active

5982001|2q partial trisomy syndrome (disorder)|

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

Expression

5982001 |2q 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
10946013 - 2q partial trisomy syndrome (en) View
10946013	en	Synonym (core metadata concept)	2q partial trisomy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
798705014 - 2q partial trisomy syndrome (disorder) (en) View
798705014	en	Fully specified name (core metadata concept)	2q 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 (245399025) - 5982001 -> 32299009 (116680003) View
116680003 \|Is a (attribute)\|	32299009 \|Anomaly of chromosome pair 2 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (245400021) - 5982001 -> 270521004 (116680003) View
116680003 \|Is a (attribute)\|	270521004 \|Trisomy and partial trisomy of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6992842026) - 5982001 -> 726340005 (116680003) View
116680003 \|Is a (attribute)\|	726340005 \|Partial trisomy of chromosome 2 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (822833028) - 5982001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (822835024) - 5982001 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3446097024) - 5982001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008258029) - 5982001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010836028) - 5982001 -> 113354003 (363698007) View
363698007 \|Finding site (attribute)\|	113354003 \|Chromosome pair 2 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024783029) - 5982001 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3309201022) - 5982001 -> 113354003 (363698007) View
363698007 \|Finding site (attribute)\|	113354003 \|Chromosome pair 2 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (822831026) - 5982001 -> 113354003 (363698007) View
363698007 \|Finding site (attribute)\|	113354003 \|Chromosome pair 2 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2598661029) - 5982001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (822834023) - 5982001 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (822832022) - 5982001 -> 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
1003412004 View
1003412004	Medial duplication of long arm of chromosome 2 (disorder)	Medial duplication of long arm of chromosome 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003869005 View
1003869005	Proximal duplication of long arm of chromosome 2 (disorder)	Proximal duplication of long arm of chromosome 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783562005 View
783562005	Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder)	Syndactyly, nystagmus syndrome due to trisomy 2q31.1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763272003 View
763272003	Distal trisomy 2q (disorder)	Distal trisomy 2q	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766816008 View
766816008	2q23.1 microduplication syndrome (disorder)	Trisomy 2q23.1	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 (afa4845d-684c-56fa-b71b-830ec0a315b9) 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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