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Terminology chevron_right Concepts chevron_right 733521003

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Component

733521003

The component that hold information about this concept.

Fully Specified Name (FSN)

Distal 16p11.2 microdeletion syndrome (disorder)

Shortest Term

Distal monosomy 16p11.2

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

Distal 16p11.2 microdeletion syndrome (disorder)

SCTID: 733521003, Primitive, Active

733521003|Distal 16p11.2 microdeletion syndrome (disorder)|

en Distal 16p11.2 microdeletion syndrome
en Distal 16p11.2 microdeletion syndrome (disorder)
en Distal monosomy 16p11.2

Expression

733521003 |Distal 16p11.2 microdeletion syndrome (disorder)|
 <<< 726388008 |Deletion of part of short arm of chromosome 16 (disorder)| + 
248290002 |Developmental delay (disorder)| + 
276654001 |Congenital malformation (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3499601015 - Distal 16p11.2 microdeletion syndrome (en) View
3499601015	en	Synonym (core metadata concept)	Distal 16p11.2 microdeletion syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3499602010 - Distal 16p11.2 microdeletion syndrome (disorder) (en) View
3499602010	en	Fully specified name (core metadata concept)	Distal 16p11.2 microdeletion syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3499603017 - Distal monosomy 16p11.2 (en) View
3499603017	en	Synonym (core metadata concept)	Distal monosomy 16p11.2	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (7044502021) - 733521003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7044503027) - 733521003 -> 39220001 (363698007) View
363698007 \|Finding site (attribute)\|	39220001 \|Chromosome pair 16 (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7079247026) - 733521003 -> 67285006 (116676008) View
116676008 \|Associated morphology (attribute)\|	67285006 \|Deletion of short arm (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13791411025) - 733521003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791412021) - 733521003 -> 248290002 (116680003) View
116680003 \|Is a (attribute)\|	248290002 \|Developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791413027) - 733521003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791414022) - 733521003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791415023) - 733521003 -> 278145009 (363698007) View
363698007 \|Finding site (attribute)\|	278145009 \|Short arm of chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791416024) - 733521003 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13791417026) - 733521003 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044497024) - 733521003 -> 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 (7044499022) - 733521003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044500029) - 733521003 -> 39220001 (363698007) View
363698007 \|Finding site (attribute)\|	39220001 \|Chromosome pair 16 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7079246024) - 733521003 -> 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
276654001 View
276654001	Congenital malformation (disorder)	Dị tật bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
248290002 View
248290002	Developmental delay (disorder)	Chậm phát triển	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 (036c418e-4167-5d63-a21b-86da545b4242) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q93.5	TRUE	ALWAYS Q93.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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