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Terminology chevron_right Concepts chevron_right 53392002

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Component

53392002

The component that hold information about this concept.

Fully Specified Name (FSN)

Anomaly of chromosome pair 16 (disorder)

Shortest Term

Anomaly of chromosome pair 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

Anomaly of chromosome pair 16 (disorder)

SCTID: 53392002, Defined, Active

53392002|Anomaly of chromosome pair 16 (disorder)|

en Anomaly of chromosome pair 16
en Anomaly of chromosome pair 16 (disorder)

Expression

53392002 |Anomaly of chromosome pair 16 (disorder)|
 === 362984008 |Anomaly of chromosome pair (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (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
88771011 - Anomaly of chromosome pair 16 (en) View
88771011	en	Synonym (core metadata concept)	Anomaly of chromosome pair 16	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
791506016 - Anomaly of chromosome pair 16 (disorder) (en) View
791506016	en	Fully specified name (core metadata concept)	Anomaly of chromosome pair 16 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
88772016 - Anomaly of chromosome pair 16, NOS (en) View
88772016	en	Synonym (core metadata concept)	Anomaly of chromosome pair 16, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (805847027) - 53392002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3444768025) - 53392002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5009030023) - 53392002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011481025) - 53392002 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011482021) - 53392002 -> 39220001 (363698007) View
363698007 \|Finding site (attribute)\|	39220001 \|Chromosome pair 16 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3308159026) - 53392002 -> 39220001 (363698007) View
363698007 \|Finding site (attribute)\|	39220001 \|Chromosome pair 16 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (805850029) - 53392002 -> 39220001 (363698007) View
363698007 \|Finding site (attribute)\|	39220001 \|Chromosome pair 16 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2597650024) - 53392002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (805848021) - 53392002 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (234937029) - 53392002 -> 95462004 (116680003) View
116680003 \|Is a (attribute)\|	95462004 \|Anomaly of sex chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (805849029) - 53392002 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2462369029) - 53392002 -> 362984008 (116680003) View
116680003 \|Is a (attribute)\|	362984008 \|Anomaly of chromosome pair (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
362984008 View
362984008	Anomaly of chromosome pair (disorder)	Anomaly of chromosome pair	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1251450006 View
1251450006	16p12.1p12.3 triplication syndrome (disorder)	Tetrasomy 16p12.1p12.3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773299000 View
773299000	Maternal uniparental disomy of chromosome 16 (disorder)	Maternal uniparental disomy of chromosome 16	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
763406004 View
763406004	Ring chromosome 16 syndrome (disorder)	Ring chromosome 16	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
764621006 View
764621006	Mosaic trisomy 16 syndrome (disorder)	Trisomy 16 mosaicism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726355001 View
726355001	Partial trisomy of chromosome 16 (disorder)	Duplication of chromosome 16	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
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
77269002 View
77269002	Complete trisomy 16 syndrome (disorder)	Complete trisomy 16 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 (a99c3847-faf3-583d-ad77-fbf67a927d22) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q99.9	TRUE	ALWAYS Q99.9	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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