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Terminology chevron_right Concepts chevron_right 548004

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Component

548004

The component that hold information about this concept.

Fully Specified Name (FSN)

13p partial trisomy syndrome (disorder)

Shortest Term

13p 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

13p partial trisomy syndrome (disorder)

SCTID: 548004, Primitive, Active

548004|13p partial trisomy syndrome (disorder)|

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

Expression

548004 |13p 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
1987016 - 13p partial trisomy syndrome (en) View
1987016	en	Synonym (core metadata concept)	13p partial trisomy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
793072016 - 13p partial trisomy syndrome (disorder) (en) View
793072016	en	Fully specified name (core metadata concept)	13p 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 (237224027) - 548004 -> 17760001 (116680003) View
116680003 \|Is a (attribute)\|	17760001 \|Anomaly of chromosome pair 13 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (237225026) - 548004 -> 270521004 (116680003) View
116680003 \|Is a (attribute)\|	270521004 \|Trisomy and partial trisomy of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6992824020) - 548004 -> 726352003 (116680003) View
116680003 \|Is a (attribute)\|	726352003 \|Partial trisomy of chromosome 13 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (809978020) - 548004 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (809979028) - 548004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3469242025) - 548004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4991887026) - 548004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4991889028) - 548004 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024941028) - 548004 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3428550026) - 548004 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (809980025) - 548004 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2597858025) - 548004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (809981026) - 548004 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (809977026) - 548004 -> 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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (8d879e46-8c14-5f5e-98b6-a23cb6be1884) 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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