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Terminology chevron_right Concepts chevron_right 716381003

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Component

716381003

The component that hold information about this concept.

Fully Specified Name (FSN)

8p23.1 microdeletion syndrome (disorder)

Shortest Term

Monosomy 8p23.1

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

8p23.1 microdeletion syndrome (disorder)

SCTID: 716381003, Primitive, Active

716381003|8p23.1 microdeletion syndrome (disorder)|

en 8p23.1 microdeletion syndrome
en 8p23.1 microdeletion syndrome (disorder)
en Monosomy 8p23.1

Expression

716381003 |8p23.1 microdeletion syndrome (disorder)|
 <<< 19419002 |8p partial monosomy syndrome (disorder)|
        { 116676008 |Associated morphology (attribute)| = 67285006 |Deletion of short arm (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 77826001 |Chromosome pair 8 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 77826001 |Chromosome pair 8 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3305745016 - 8p23.1 microdeletion syndrome (en) View
3305745016	en	Synonym (core metadata concept)	8p23.1 microdeletion syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3305744017 - 8p23.1 microdeletion syndrome (disorder) (en) View
3305744017	en	Fully specified name (core metadata concept)	8p23.1 microdeletion syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3305746015 - Monosomy 8p23.1 (en) View
3305746015	en	Synonym (core metadata concept)	Monosomy 8p23.1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6571325022) - 716381003 -> 19419002 (116680003) View
116680003 \|Is a (attribute)\|	19419002 \|8p partial monosomy syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6571326023) - 716381003 -> 67285006 (116676008) View
116676008 \|Associated morphology (attribute)\|	67285006 \|Deletion of short arm (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6571327025) - 716381003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6571328024) - 716381003 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6571329027) - 716381003 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6571330021) - 716381003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6571331020) - 716381003 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
19419002 View
19419002	8p partial monosomy syndrome (disorder)	8p partial monosomy syndrome	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 (003b5b27-1c8b-519c-9b21-5149e94ffe1c) 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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