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Terminology chevron_right Concepts chevron_right 10572007

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Component

10572007

The component that hold information about this concept.

Fully Specified Name (FSN)

13q partial trisomy syndrome (disorder)

Shortest Term

13q 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

13q partial trisomy syndrome (disorder)

SCTID: 10572007, Primitive, Active

10572007|13q partial trisomy syndrome (disorder)|

en 13q partial trisomy syndrome
en 13q partial trisomy syndrome (disorder)

Expression

10572007 |13q partial trisomy syndrome (disorder)|
 <<< 726352003 |Partial trisomy of chromosome 13 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 55401003 |Chromosome pair 13 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
18377017 - 13q partial trisomy syndrome (en) View
18377017	en	Synonym (core metadata concept)	13q partial trisomy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
574386010 - 13q partial trisomy syndrome (disorder) (en) View
574386010	en	Fully specified name (core metadata concept)	13q 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 (19235023) - 10572007 -> 17760001 (116680003) View
116680003 \|Is a (attribute)\|	17760001 \|Anomaly of chromosome pair 13 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (19236024) - 10572007 -> 270521004 (116680003) View
116680003 \|Is a (attribute)\|	270521004 \|Trisomy and partial trisomy of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6992854026) - 10572007 -> 726352003 (116680003) View
116680003 \|Is a (attribute)\|	726352003 \|Partial trisomy of chromosome 13 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (462394024) - 10572007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3522594022) - 10572007 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3548889028) - 10572007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4989106020) - 10572007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4989108021) - 10572007 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024716027) - 10572007 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (462398022) - 10572007 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2568499024) - 10572007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3092895028) - 10572007 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3092896027) - 10572007 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2978214029) - 10572007 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2978215028) - 10572007 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2913298027) - 10572007 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2913299024) - 10572007 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2820382024) - 10572007 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2820383025) - 10572007 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2673319022) - 10572007 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2673320027) - 10572007 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (462395020) - 10572007 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2518398026) - 10572007 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (462396021) - 10572007 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (462397028) - 10572007 -> 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
726352003 View
726352003	Partial trisomy of chromosome 13 (disorder)	Duplication of chromosome 13	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
764454003 View
764454003	Distal trisomy 13q (disorder)	Distal trisomy 13q	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764996009 View
764996009	Non-distal trisomy 13q (disorder)	Non-distal trisomy 13q	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 (b53cf8e3-29db-5577-ba04-1d4d87947658) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q91.7	TRUE	ALWAYS Q91.7	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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