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Terminology chevron_right Concepts chevron_right 5051002

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Component

5051002

The component that hold information about this concept.

Fully Specified Name (FSN)

Anomaly of chromosome pair 9 (disorder)

Shortest Term

Anomaly of chromosome pair 9

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 9 (disorder)

SCTID: 5051002, Defined, Active

5051002|Anomaly of chromosome pair 9 (disorder)|

en Anomaly of chromosome pair 9
en Anomaly of chromosome pair 9 (disorder)

Expression

5051002 |Anomaly of chromosome pair 9 (disorder)|
 === 362984008 |Anomaly of chromosome pair (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 13526007 |Chromosome pair 9 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
9456010 - Anomaly of chromosome pair 9 (en) View
9456010	en	Synonym (core metadata concept)	Anomaly of chromosome pair 9	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
788307018 - Anomaly of chromosome pair 9 (disorder) (en) View
788307018	en	Fully specified name (core metadata concept)	Anomaly of chromosome pair 9 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
9457018 - Anomaly of chromosome pair 9, NOS (en) View
9457018	en	Synonym (core metadata concept)	Anomaly of chromosome pair 9, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (798045022) - 5051002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3349392021) - 5051002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4992403024) - 5051002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4992405028) - 5051002 -> 13526007 (363698007) View
363698007 \|Finding site (attribute)\|	13526007 \|Chromosome pair 9 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011280027) - 5051002 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3349393027) - 5051002 -> 13526007 (363698007) View
363698007 \|Finding site (attribute)\|	13526007 \|Chromosome pair 9 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (798046023) - 5051002 -> 13526007 (363698007) View
363698007 \|Finding site (attribute)\|	13526007 \|Chromosome pair 9 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2597176023) - 5051002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (798047025) - 5051002 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (230188022) - 5051002 -> 95462004 (116680003) View
116680003 \|Is a (attribute)\|	95462004 \|Anomaly of sex chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (798044021) - 5051002 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2462248028) - 5051002 -> 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
766240006 View
766240006	Maternal uniparental disomy of chromosome 9 (disorder)	Maternal uniparental disomy of chromosome 9	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
60650002 View
60650002	Ring chromosome 9 syndrome (disorder)	Ring chromosome 9 syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
205650008 View
205650008	Trisomy 9 (disorder)	Trisomy 9	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726379004 View
726379004	Deletion of part of chromosome 9 (disorder)	Deletion of part of chromosome 9	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
74183001 View
74183001	Partial tetrasomy 9 syndrome (disorder)	Partial tetrasomy 9	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 (6e1ccac8-908b-58cd-a679-84ff04b7fd9a) 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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