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Terminology chevron_right Concepts chevron_right 29379007

Production

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Component

29379007

The component that hold information about this concept.

Fully Specified Name (FSN)

8q partial monosomy syndrome (disorder)

Shortest Term

8q 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

8q partial monosomy syndrome (disorder)

SCTID: 29379007, Primitive, Active

29379007|8q partial monosomy syndrome (disorder)|

en 8q partial monosomy syndrome
en 8q partial monosomy syndrome (disorder)

Expression

29379007 |8q partial monosomy syndrome (disorder)|
 <<< 726378007 |Deletion of part of chromosome 8 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 64329008 |Deletion of long arm (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 77826001 |Chromosome pair 8 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 77826001 |Chromosome pair 8 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
49153016 - 8q partial monosomy syndrome (en) View
49153016	en	Synonym (core metadata concept)	8q partial monosomy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
760266018 - 8q partial monosomy syndrome (disorder) (en) View
760266018	en	Fully specified name (core metadata concept)	8q 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 (195781024) - 29379007 -> 254274004 (116680003) View
116680003 \|Is a (attribute)\|	254274004 \|Deletion of part of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (195782028) - 29379007 -> 48082007 (116680003) View
116680003 \|Is a (attribute)\|	48082007 \|Anomaly of chromosome pair 8 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6970500022) - 29379007 -> 726378007 (116680003) View
116680003 \|Is a (attribute)\|	726378007 \|Deletion of part of chromosome 8 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (745503029) - 29379007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3532661020) - 29379007 -> 64329008 (116676008) View
116676008 \|Associated morphology (attribute)\|	64329008 \|Deletion of long arm (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3532662029) - 29379007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3550760026) - 29379007 -> 86277003 (116676008) View
116676008 \|Associated morphology (attribute)\|	86277003 \|Monosomy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008624029) - 29379007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011166025) - 29379007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011168029) - 29379007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024925029) - 29379007 -> 64329008 (116676008) View
116676008 \|Associated morphology (attribute)\|	64329008 \|Deletion of long arm (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024926028) - 29379007 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024927021) - 29379007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (745504024) - 29379007 -> 64329008 (116676008) View
116676008 \|Associated morphology (attribute)\|	64329008 \|Deletion of long arm (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (745505020) - 29379007 -> 86277003 (116676008) View
116676008 \|Associated morphology (attribute)\|	86277003 \|Monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2593637022) - 29379007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3096148026) - 29379007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3096149023) - 29379007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2983957022) - 29379007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2983958028) - 29379007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2919156027) - 29379007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2919157020) - 29379007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2826825020) - 29379007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2826826021) - 29379007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2681129023) - 29379007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2681130029) - 29379007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (745502023) - 29379007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (745501027) - 29379007 -> 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
726378007 View
726378007	Deletion of part of chromosome 8 (disorder)	Deletion of part of chromosome 8	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1229895008 View
1229895008	8q24.3 microdeletion syndrome (disorder)	Deletion 8q24.3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
897526006 View
897526006	Distal deletion of long arm of chromosome 8 (disorder)	Distal monosomy 8q	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003894006 View
1003894006	Proximal deletion of long arm of chromosome 8 (disorder)	Proximal deletion of long arm of chromosome 8	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724147004 View
724147004	8q13 microdeletion syndrome (disorder)	Monosomy 8q13	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718615003 View
718615003	8q21.11 microdeletion syndrome (disorder)	Monosomy 8q21.11	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719664004 View
719664004	8q22.1 microdeletion syndrome (disorder)	Monosomy 8q22.1	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 (50444e9b-5ce4-59ce-b39e-7de12916cd15) 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)\|
ExtendedMap object (65833510-dc19-5ed3-994d-84b55ee84a97) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q93.5	TRUE	ALWAYS Q93.5	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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