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Terminology chevron_right Concepts chevron_right 43420005

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Component

43420005

The component that hold information about this concept.

Fully Specified Name (FSN)

9q partial monosomy syndrome (disorder)

Shortest Term

9q partial monosomy syndrome

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

9q partial monosomy syndrome (disorder)

SCTID: 43420005, Primitive, Active

43420005|9q partial monosomy syndrome (disorder)|

en 9q partial monosomy syndrome
en 9q partial monosomy syndrome (disorder)

Expression

43420005 |9q partial monosomy syndrome (disorder)|
 <<< 726379004 |Deletion of part of chromosome 9 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 64329008 |Deletion of long arm (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 13526007 |Chromosome pair 9 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (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
72429010 - 9q partial monosomy syndrome (en) View
72429010	en	Synonym (core metadata concept)	9q partial monosomy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
780430010 - 9q partial monosomy syndrome (disorder) (en) View
780430010	en	Fully specified name (core metadata concept)	9q partial monosomy syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (218777025) - 43420005 -> 5051002 (116680003) View
116680003 \|Is a (attribute)\|	5051002 \|Anomaly of chromosome pair 9 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (218778024) - 43420005 -> 254274004 (116680003) View
116680003 \|Is a (attribute)\|	254274004 \|Deletion of part of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6970507020) - 43420005 -> 726379004 (116680003) View
116680003 \|Is a (attribute)\|	726379004 \|Deletion of part of chromosome 9 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (780805025) - 43420005 -> 86277003 (116676008) View
116676008 \|Associated morphology (attribute)\|	86277003 \|Monosomy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (780807022) - 43420005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (780808028) - 43420005 -> 64329008 (116676008) View
116676008 \|Associated morphology (attribute)\|	64329008 \|Deletion of long arm (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3374795028) - 43420005 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4990024025) - 43420005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4990026028) - 43420005 -> 13526007 (363698007) View
363698007 \|Finding site (attribute)\|	13526007 \|Chromosome pair 9 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024795029) - 43420005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024797021) - 43420005 -> 13526007 (363698007) View
363698007 \|Finding site (attribute)\|	13526007 \|Chromosome pair 9 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5026608026) - 43420005 -> 64329008 (116676008) View
116676008 \|Associated morphology (attribute)\|	64329008 \|Deletion of long arm (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5026609023) - 43420005 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3374796027) - 43420005 -> 13526007 (363698007) View
363698007 \|Finding site (attribute)\|	13526007 \|Chromosome pair 9 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (780804026) - 43420005 -> 13526007 (363698007) View
363698007 \|Finding site (attribute)\|	13526007 \|Chromosome pair 9 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2596046024) - 43420005 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (780806029) - 43420005 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1228886008 View
1228886008	9q33.3q34.11 microdeletion syndrome (disorder)	Deletion 9q33.3q34.11	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1229875002 View
1229875002	9q21.13 microdeletion syndrome (disorder)	9q21.13 microdeletion syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
890130000 View
890130000	9q34 deletion syndrome (disorder)	9q34 deletion syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
897527002 View
897527002	Distal deletion of long arm of chromosome 9 (disorder)	Distal monosomy 9q	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003420002 View
1003420002	Medial deletion of long arm of chromosome 9 (disorder)	Medial deletion of long arm of chromosome 9	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003895007 View
1003895007	Proximal deletion of long arm of chromosome 9 (disorder)	Proximal deletion of long arm of chromosome 9	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773493002 View
773493002	9q31.1q31.3 microdeletion syndrome (disorder)	Monosomy 9q31.1q31.3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724098008 View
724098008	Monosomy 9q22.3 syndrome (disorder)	Monosomy 9q22.3	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 (1cc64ea1-4518-5b2d-8835-244fb597ad08) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q93.8	TRUE	ALWAYS Q93.8	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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