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Terminology chevron_right Concepts chevron_right 719661007

Production

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Component

719661007

The component that hold information about this concept.

Fully Specified Name (FSN)

5q14.3 microdeletion syndrome (disorder)

Shortest Term

Monosomy 5q14.3

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

5q14.3 microdeletion syndrome (disorder)

SCTID: 719661007, Primitive, Active

719661007|5q14.3 microdeletion syndrome (disorder)|

en 5q14.3 microdeletion syndrome
en 5q14.3 microdeletion syndrome (disorder)
en Monosomy 5q14.3

Expression

719661007 |5q14.3 microdeletion syndrome (disorder)|
 <<< 82354003 |Multiple system malformation syndrome (disorder)| + 
726373003 |Deletion of part of long arm of chromosome 5 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 12399004 |Chromosome pair 5 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 312242007 |Long arm of chromosome (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3317286015 - 5q14.3 microdeletion syndrome (en) View
3317286015	en	Synonym (core metadata concept)	5q14.3 microdeletion syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3317285016 - 5q14.3 microdeletion syndrome (disorder) (en) View
3317285016	en	Fully specified name (core metadata concept)	5q14.3 microdeletion syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3317287012 - Monosomy 5q14.3 (en) View
3317287012	en	Synonym (core metadata concept)	Monosomy 5q14.3	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6640783027) - 719661007 -> 12399004 (363698007) View
363698007 \|Finding site (attribute)\|	12399004 \|Chromosome pair 5 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6640785023) - 719661007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6640786024) - 719661007 -> 12399004 (363698007) View
363698007 \|Finding site (attribute)\|	12399004 \|Chromosome pair 5 (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6642546020) - 719661007 -> 64329008 (116676008) View
116676008 \|Associated morphology (attribute)\|	64329008 \|Deletion of long arm (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6642547027) - 719661007 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13779050025) - 719661007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13779051026) - 719661007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13779052022) - 719661007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13779053028) - 719661007 -> 312242007 (363698007) View
363698007 \|Finding site (attribute)\|	312242007 \|Long arm of chromosome (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13779054023) - 719661007 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13779055024) - 719661007 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13779056020) - 719661007 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13779057027) - 719661007 -> 12399004 (363698007) View
363698007 \|Finding site (attribute)\|	12399004 \|Chromosome pair 5 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6640779027) - 719661007 -> 57361003 (116680003) View
116680003 \|Is a (attribute)\|	57361003 \|Anomaly of chromosome pair 5 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6640780029) - 719661007 -> 254274004 (116680003) View
116680003 \|Is a (attribute)\|	254274004 \|Deletion of part of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6970607026) - 719661007 -> 726373003 (116680003) View
116680003 \|Is a (attribute)\|	726373003 \|Deletion of part of long arm of chromosome 5 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6640782021) - 719661007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
726373003 View
726373003	Deletion of part of long arm of chromosome 5 (disorder)	Deletion of part of long arm of chromosome 5	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	900000000000074008 \|Necessary but not sufficient concept 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 (9f4893a0-d62b-5232-8cc0-f5780fc5cb2d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q93.5	TRUE	ALWAYS Q93.5	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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