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Terminology chevron_right Concepts chevron_right 4325000

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Component

4325000

The component that hold information about this concept.

Fully Specified Name (FSN)

11q partial monosomy syndrome (disorder)

Shortest Term

11q 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

11q partial monosomy syndrome (disorder)

SCTID: 4325000, Primitive, Active

4325000|11q partial monosomy syndrome (disorder)|

en 11q partial monosomy syndrome
en 11q partial monosomy syndrome (disorder)

Expression

4325000 |11q partial monosomy syndrome (disorder)|
 <<< 726381002 |Deletion of part of chromosome 11 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 16312006 |Chromosome pair 11 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 64329008 |Deletion of long arm (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 16312006 |Chromosome pair 11 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
8287015 - 11q partial monosomy syndrome (en) View
8287015	en	Synonym (core metadata concept)	11q partial monosomy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
780239014 - 11q partial monosomy syndrome (disorder) (en) View
780239014	en	Fully specified name (core metadata concept)	11q 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 (218521025) - 4325000 -> 60891003 (116680003) View
116680003 \|Is a (attribute)\|	60891003 \|Anomaly of chromosome pair 11 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5025126024) - 4325000 -> 254274004 (116680003) View
116680003 \|Is a (attribute)\|	254274004 \|Deletion of part of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6970484029) - 4325000 -> 726381002 (116680003) View
116680003 \|Is a (attribute)\|	726381002 \|Deletion of part of chromosome 11 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (780350023) - 4325000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3528962029) - 4325000 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3550637029) - 4325000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5009125022) - 4325000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011561028) - 4325000 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5025128020) - 4325000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5025130022) - 4325000 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5029922029) - 4325000 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5029923023) - 4325000 -> 64329008 (116676008) View
116676008 \|Associated morphology (attribute)\|	64329008 \|Deletion of long arm (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (780352026) - 4325000 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2596023022) - 4325000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3387032020) - 4325000 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3486094027) - 4325000 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (218522021) - 4325000 -> 254274004 (116680003) View
116680003 \|Is a (attribute)\|	254274004 \|Deletion of part of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (780353020) - 4325000 -> 64329008 (116676008) View
116676008 \|Associated morphology (attribute)\|	64329008 \|Deletion of long arm (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (780354025) - 4325000 -> 86277003 (116676008) View
116676008 \|Associated morphology (attribute)\|	86277003 \|Monosomy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (780351022) - 4325000 -> 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
726381002 View
726381002	Deletion of part of chromosome 11 (disorder)	Deletion of part of chromosome 11	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1229882003 View
1229882003	11q22.2q22.3 microdeletion syndrome (disorder)	Monosomy 11q22.2q22.3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003929008 View
1003929008	Proximal deletion of long arm of chromosome 11 (disorder)	Proximal deletion of long arm of chromosome 11	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 (90bdec02-0745-5cb0-a2f4-242531ba0638) 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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