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Component

698849002

The component that hold information about this concept.

Fully Specified Name (FSN)

Tetrasomy 18p (disorder)

Shortest Term

18p tetrasomy

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 18p (disorder)

SCTID: 698849002, Defined, Active

698849002|Tetrasomy 18p (disorder)|

en 18p isochromosome
en 18p tetrasomy
en Tetrasomy 18p
en Tetrasomy 18p (disorder)

Expression

698849002 |Tetrasomy 18p (disorder)|
 === 59033006 |Anomaly of chromosome pair 18 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 29996004 |Tetrasomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 11698001 |Chromosome pair 18 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 29996004 |Tetrasomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 278145009 |Short 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
2981491012 - 18p isochromosome (en) View
2981491012	en	Synonym (core metadata concept)	18p isochromosome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2981462014 - 18p tetrasomy (en) View
2981462014	en	Synonym (core metadata concept)	18p tetrasomy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2981459011 - Tetrasomy 18p (en) View
2981459011	en	Synonym (core metadata concept)	Tetrasomy 18p	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2981466012 - Tetrasomy 18p (disorder) (en) View
2981466012	en	Fully specified name (core metadata concept)	Tetrasomy 18p (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5011499022) - 698849002 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13803014020) - 698849002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13803015021) - 698849002 -> 278145009 (363698007) View
363698007 \|Finding site (attribute)\|	278145009 \|Short arm of chromosome (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13803016022) - 698849002 -> 29996004 (116676008) View
116676008 \|Associated morphology (attribute)\|	29996004 \|Tetrasomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13803017029) - 698849002 -> 29996004 (116676008) View
116676008 \|Associated morphology (attribute)\|	29996004 \|Tetrasomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4770184022) - 698849002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4770185023) - 698849002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5009042029) - 698849002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011500029) - 698849002 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4770183027) - 698849002 -> 59033006 (116680003) View
116680003 \|Is a (attribute)\|	59033006 \|Anomaly of chromosome pair 18 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
59033006 View
59033006	Anomaly of chromosome pair 18 (disorder)	Anomaly of chromosome pair 18	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 (23c0d106-d884-5374-8d29-d62c5168448a) 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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