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Terminology chevron_right Concepts chevron_right 70452003

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Component

70452003

The component that hold information about this concept.

Fully Specified Name (FSN)

Anomaly of chromosome pair 22 (disorder)

Shortest Term

Anomaly of chromosome pair 22

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 22 (disorder)

SCTID: 70452003, Defined, Active

70452003|Anomaly of chromosome pair 22 (disorder)|

en Anomaly of chromosome pair 22
en Anomaly of chromosome pair 22 (disorder)

Expression

70452003 |Anomaly of chromosome pair 22 (disorder)|
 === 362984008 |Anomaly of chromosome pair (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 79229009 |Chromosome pair 22 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
117038011 - Anomaly of chromosome pair 22 (en) View
117038011	en	Synonym (core metadata concept)	Anomaly of chromosome pair 22	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
810510017 - Anomaly of chromosome pair 22 (disorder) (en) View
810510017	en	Fully specified name (core metadata concept)	Anomaly of chromosome pair 22 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
117039015 - Anomaly of chromosome pair 22, NOS (en) View
117039015	en	Synonym (core metadata concept)	Anomaly of chromosome pair 22, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (849509022) - 70452003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3322872025) - 70452003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008651026) - 70452003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011196024) - 70452003 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011197026) - 70452003 -> 79229009 (363698007) View
363698007 \|Finding site (attribute)\|	79229009 \|Chromosome pair 22 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3322871021) - 70452003 -> 79229009 (363698007) View
363698007 \|Finding site (attribute)\|	79229009 \|Chromosome pair 22 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (849506026) - 70452003 -> 79229009 (363698007) View
363698007 \|Finding site (attribute)\|	79229009 \|Chromosome pair 22 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2600416021) - 70452003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (849507024) - 70452003 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (262625021) - 70452003 -> 95462004 (116680003) View
116680003 \|Is a (attribute)\|	95462004 \|Anomaly of sex chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (849508025) - 70452003 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2463200023) - 70452003 -> 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
782692004 View
782692004	Maternal uniparental disomy of chromosome 22 (disorder)	Maternal uniparental disomy of chromosome 22	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
787411009 View
787411009	Monosomy 22 (disorder)	Deletion 22	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205655003 View
205655003	Trisomy 22 (disorder)	Trisomy 22	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726399005 View
726399005	Deletion of part of chromosome 22 (disorder)	Deletion of part of chromosome 22	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
13555004 View
13555004	Ring chromosome 22 syndrome (disorder)	Ring chromosome 22 syndrome	900000000000073002 \|Sufficiently defined by necessary conditions 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 (97bb75bd-a153-58ee-afb0-5e3d93f2271d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q99.8	TRUE	ALWAYS Q99.8	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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