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Terminology chevron_right Concepts chevron_right 699307007

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Component

699307007

The component that hold information about this concept.

Fully Specified Name (FSN)

Chromosome 16p11.2 deletion syndrome (disorder)

Shortest Term

16p11.2 deletion 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

Chromosome 16p11.2 deletion syndrome (disorder)

SCTID: 699307007, Primitive, Active

699307007|Chromosome 16p11.2 deletion syndrome (disorder)|

en 16p11.2 deletion syndrome
en Chromosome 16p11.2 deletion syndrome
en Chromosome 16p11.2 deletion syndrome (disorder)

Expression

699307007 |Chromosome 16p11.2 deletion syndrome (disorder)|
 <<< 726388008 |Deletion of part of short arm of chromosome 16 (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
2983663019 - 16p11.2 deletion syndrome (en) View
2983663019	en	Synonym (core metadata concept)	16p11.2 deletion syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2983646018 - Chromosome 16p11.2 deletion syndrome (en) View
2983646018	en	Synonym (core metadata concept)	Chromosome 16p11.2 deletion syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2983684012 - Chromosome 16p11.2 deletion syndrome (disorder) (en) View
2983684012	en	Fully specified name (core metadata concept)	Chromosome 16p11.2 deletion syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (4776186026) - 699307007 -> 53392002 (116680003) View
116680003 \|Is a (attribute)\|	53392002 \|Anomaly of chromosome pair 16 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5010664020) - 699307007 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5010665021) - 699307007 -> 39220001 (363698007) View
363698007 \|Finding site (attribute)\|	39220001 \|Chromosome pair 16 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13881853021) - 699307007 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13881854026) - 699307007 -> 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 (13881855025) - 699307007 -> 278145009 (363698007) View
363698007 \|Finding site (attribute)\|	278145009 \|Short arm of chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13881856029) - 699307007 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13881857022) - 699307007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13881858028) - 699307007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13881859020) - 699307007 -> 39220001 (363698007) View
363698007 \|Finding site (attribute)\|	39220001 \|Chromosome pair 16 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13881860026) - 699307007 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13881861027) - 699307007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4776187024) - 699307007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4776188025) - 699307007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008079020) - 699307007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	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

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 (cf2dda62-40c5-5039-b2f0-532e6a040923) 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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