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Terminology chevron_right Concepts chevron_right 1010613009

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Component

1010613009

The component that hold information about this concept.

Fully Specified Name (FSN)

Tetrasomy 15q (disorder)

Shortest Term

Tetrasomy 15q

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Tetrasomy 15q (disorder)

SCTID: 1010613009, Defined, Active

1010613009|Tetrasomy 15q (disorder)|

en Tetrasomy 15q
en Tetrasomy 15q (disorder)

Expression

1010613009 |Tetrasomy 15q (disorder)|
 === 16569009 |Anomaly of chromosome pair 15 (disorder)| + 
428113000 |Autosomal aneuploidy (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 29996004 |Tetrasomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 71678009 |Chromosome pair 15 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 29996004 |Tetrasomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 312242007 |Long arm of chromosome (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4213332018 - Tetrasomy 15q (en) View
4213332018	en	Synonym (core metadata concept)	Tetrasomy 15q	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4213331013 - Tetrasomy 15q (disorder) (en) View
4213331013	en	Fully specified name (core metadata concept)	Tetrasomy 15q (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13207392022) - 1010613009 -> 403759001 (116680003) View
116680003 \|Is a (attribute)\|	403759001 \|Autosomal chromosomal disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13881448022) - 1010613009 -> 428113000 (116680003) View
116680003 \|Is a (attribute)\|	428113000 \|Autosomal aneuploidy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13881449025) - 1010613009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13881450025) - 1010613009 -> 312242007 (363698007) View
363698007 \|Finding site (attribute)\|	312242007 \|Long arm of chromosome (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13881451026) - 1010613009 -> 29996004 (116676008) View
116676008 \|Associated morphology (attribute)\|	29996004 \|Tetrasomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13207391026) - 1010613009 -> 16569009 (116680003) View
116680003 \|Is a (attribute)\|	16569009 \|Anomaly of chromosome pair 15 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13207393028) - 1010613009 -> 29996004 (116676008) View
116676008 \|Associated morphology (attribute)\|	29996004 \|Tetrasomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13207394023) - 1010613009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13207395024) - 1010613009 -> 71678009 (363698007) View
363698007 \|Finding site (attribute)\|	71678009 \|Chromosome pair 15 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
16569009 View
16569009	Anomaly of chromosome pair 15 (disorder)	Anomaly of chromosome pair 15	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
428113000 View
428113000	Autosomal aneuploidy (disorder)	Autosomal aneuploidy	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 (059f3938-33f7-5408-922b-45b8c4569788) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q99.8	TRUE	ALWAYS Q99.8	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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