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Terminology chevron_right Concepts chevron_right 719576009

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Component

719576009

The component that hold information about this concept.

Fully Specified Name (FSN)

16p11.2p12.2 microdeletion syndrome (disorder)

Shortest Term

Monosomy 16p11.2p12.2

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

16p11.2p12.2 microdeletion syndrome (disorder)

SCTID: 719576009, Primitive, Active

719576009|16p11.2p12.2 microdeletion syndrome (disorder)|

en 16p11.2p12.2 microdeletion syndrome
en 16p11.2p12.2 microdeletion syndrome (disorder)
en Monosomy 16p11.2p12.2

Expression

719576009 |16p11.2p12.2 microdeletion syndrome (disorder)|
 <<< 726388008 |Deletion of part of short arm of chromosome 16 (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 278145009 |Short arm of chromosome (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39220001 |Chromosome pair 16 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3316970012 - 16p11.2p12.2 microdeletion syndrome (en) View
3316970012	en	Synonym (core metadata concept)	16p11.2p12.2 microdeletion syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3316969011 - 16p11.2p12.2 microdeletion syndrome (disorder) (en) View
3316969011	en	Fully specified name (core metadata concept)	16p11.2p12.2 microdeletion syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3316971011 - Monosomy 16p11.2p12.2 (en) View
3316971011	en	Synonym (core metadata concept)	Monosomy 16p11.2p12.2	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6640638022) - 719576009 -> 39220001 (363698007) View
363698007 \|Finding site (attribute)\|	39220001 \|Chromosome pair 16 (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6642512024) - 719576009 -> 67285006 (116676008) View
116676008 \|Associated morphology (attribute)\|	67285006 \|Deletion of short arm (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13791384026) - 719576009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791385025) - 719576009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791386029) - 719576009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791387022) - 719576009 -> 278145009 (363698007) View
363698007 \|Finding site (attribute)\|	278145009 \|Short arm of chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791388028) - 719576009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791389020) - 719576009 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791390027) - 719576009 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791391028) - 719576009 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791392024) - 719576009 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6640631027) - 719576009 -> 53392002 (116680003) View
116680003 \|Is a (attribute)\|	53392002 \|Anomaly of chromosome pair 16 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6640632023) - 719576009 -> 254274004 (116680003) View
116680003 \|Is a (attribute)\|	254274004 \|Deletion of part of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6970596023) - 719576009 -> 726388008 (116680003) View
116680003 \|Is a (attribute)\|	726388008 \|Deletion of part of short arm of chromosome 16 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6640634024) - 719576009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6640635020) - 719576009 -> 39220001 (363698007) View
363698007 \|Finding site (attribute)\|	39220001 \|Chromosome pair 16 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6640637028) - 719576009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6642511028) - 719576009 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
726388008 View
726388008	Deletion of part of short arm of chromosome 16 (disorder)	Deletion of part of short arm of chromosome 16	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (c6c80d33-2ae7-525c-bd50-9b50941f20dc) 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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