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Terminology chevron_right Concepts chevron_right 79656000

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Component

79656000

The component that hold information about this concept.

Fully Specified Name (FSN)

Anomaly of chromosome pair 19 (disorder)

Shortest Term

Anomaly of chromosome pair 19

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 19 (disorder)

SCTID: 79656000, Defined, Active

79656000|Anomaly of chromosome pair 19 (disorder)|

en Anomaly of chromosome pair 19
en Anomaly of chromosome pair 19 (disorder)

Expression

79656000 |Anomaly of chromosome pair 19 (disorder)|
 === 362984008 |Anomaly of chromosome pair (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89959003 |Chromosome pair 19 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
132153018 - Anomaly of chromosome pair 19 (en) View
132153018	en	Synonym (core metadata concept)	Anomaly of chromosome pair 19	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
820730015 - Anomaly of chromosome pair 19 (disorder) (en) View
820730015	en	Fully specified name (core metadata concept)	Anomaly of chromosome pair 19 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
132154012 - Anomaly of chromosome pair 19, NOS (en) View
132154012	en	Synonym (core metadata concept)	Anomaly of chromosome pair 19, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (872949028) - 79656000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3445145022) - 79656000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008319021) - 79656000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010890020) - 79656000 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010891024) - 79656000 -> 89959003 (363698007) View
363698007 \|Finding site (attribute)\|	89959003 \|Chromosome pair 19 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3370660025) - 79656000 -> 89959003 (363698007) View
363698007 \|Finding site (attribute)\|	89959003 \|Chromosome pair 19 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (872951029) - 79656000 -> 89959003 (363698007) View
363698007 \|Finding site (attribute)\|	89959003 \|Chromosome pair 19 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2601971022) - 79656000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (872948020) - 79656000 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (277537020) - 79656000 -> 95462004 (116680003) View
116680003 \|Is a (attribute)\|	95462004 \|Anomaly of sex chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (872950028) - 79656000 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2463610024) - 79656000 -> 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
765484001 View
765484001	Ring chromosome 19 syndrome (disorder)	Ring chromosome 19	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726358004 View
726358004	Partial trisomy of chromosome 19 (disorder)	Duplication of chromosome 19	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726392001 View
726392001	Deletion of part of chromosome 19 (disorder)	Deletion of part of chromosome 19	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 (8fc7a524-2ac0-578f-af9e-9c17474c93cc) 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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