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Terminology chevron_right Concepts chevron_right 726388008

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Language with ID “acee459f-c40b-5e6e-b3d9-b6bc97ef52ea” doesn’t exist. Perhaps it was deleted?

Component

726388008

The component that hold information about this concept.

Fully Specified Name (FSN)

Deletion of part of short arm of chromosome 16 (disorder)

Shortest Term

Deletion of part of short arm of chromosome 16

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Deletion of part of short arm of chromosome 16 (disorder)

SCTID: 726388008, Defined, Active

726388008|Deletion of part of short arm of chromosome 16 (disorder)|

en Deletion of part of short arm of chromosome 16
en Deletion of part of short arm of chromosome 16 (disorder)

Expression

726388008 |Deletion of part of short arm of chromosome 16 (disorder)|
 === 726387003 |Deletion of part of chromosome 16 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 278145009 |Short arm of chromosome (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39220001 |Chromosome pair 16 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3464779018 - Deletion of part of short arm of chromosome 16 (en) View
3464779018	en	Synonym (core metadata concept)	Deletion of part of short arm of chromosome 16	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3464778014 - Deletion of part of short arm of chromosome 16 (disorder) (en) View
3464778014	en	Fully specified name (core metadata concept)	Deletion of part of short arm of chromosome 16 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6971104025) - 726388008 -> 67285006 (116676008) View
116676008 \|Associated morphology (attribute)\|	67285006 \|Deletion of short arm (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6971105029) - 726388008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6971106028) - 726388008 -> 39220001 (363698007) View
363698007 \|Finding site (attribute)\|	39220001 \|Chromosome pair 16 (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13791399026) - 726388008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791400022) - 726388008 -> 278145009 (363698007) View
363698007 \|Finding site (attribute)\|	278145009 \|Short arm of chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791401021) - 726388008 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6971100023) - 726388008 -> 726387003 (116680003) View
116680003 \|Is a (attribute)\|	726387003 \|Deletion of part of chromosome 16 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6971101022) - 726388008 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6971102026) - 726388008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6971103020) - 726388008 -> 39220001 (363698007) View
363698007 \|Finding site (attribute)\|	39220001 \|Chromosome pair 16 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
726387003 View
726387003	Deletion of part of chromosome 16 (disorder)	Deletion of part of chromosome 16	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1228890005 View
1228890005	16p13.2 microdeletion syndrome (disorder)	Monosomy 16p13.2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
768471006 View
768471006	16p12.2 microdeletion syndrome (disorder)	16p12.2 microdeletion	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
734349003 View
734349003	Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)	Atr-16 syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733521003 View
733521003	Distal 16p11.2 microdeletion syndrome (disorder)	Distal monosomy 16p11.2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719576009 View
719576009	16p11.2p12.2 microdeletion syndrome (disorder)	Monosomy 16p11.2p12.2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719577000 View
719577000	16p13.11 microdeletion syndrome (disorder)	Monosomy 16p13.11	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718227006 View
718227006	Proximal 16p11.2 microdeletion syndrome (disorder)	Proximal 16p11.2 microdeletion syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
699307007 View
699307007	Chromosome 16p11.2 deletion syndrome (disorder)	16p11.2 deletion syndrome	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 (8c0ed77b-4e0b-54ac-84ac-38a7b905ee68) 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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