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Terminology chevron_right Concepts chevron_right 227035005

Production

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Component

227035005

The component that hold information about this concept.

Fully Specified Name (FSN)

21q partial distal trisomy (disorder)

Shortest Term

21q partial distal trisomy

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

21q partial distal trisomy (disorder)

SCTID: 227035005, Primitive, Active

227035005|21q partial distal trisomy (disorder)|

en 21q partial distal trisomy
en 21q partial distal trisomy (disorder)

Expression

227035005 |21q partial distal trisomy (disorder)|
 <<< 228050004 |21q partial trisomy (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 312242007 |Long arm of chromosome (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 43009003 |Chromosome pair 21 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4555286016 - 21q partial distal trisomy (en) View
4555286016	en	Synonym (core metadata concept)	21q partial distal trisomy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4555285017 - 21q partial distal trisomy (disorder) (en) View
4555285017	en	Fully specified name (core metadata concept)	21q partial distal trisomy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
340881015 - 21q partial distal trisomy syndrome (en) View
340881015	en	Synonym (core metadata concept)	21q partial distal trisomy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
614467017 - 21q partial distal trisomy syndrome (disorder) (en) View
614467017	en	Fully specified name (core metadata concept)	21q partial distal trisomy syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5010951022) - 227035005 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5010952026) - 227035005 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13753946025) - 227035005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753947023) - 227035005 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753948029) - 227035005 -> 312242007 (363698007) View
363698007 \|Finding site (attribute)\|	312242007 \|Long arm of chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753949021) - 227035005 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753950021) - 227035005 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (484841028) - 227035005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3367492023) - 227035005 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008387026) - 227035005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3367493029) - 227035005 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (484842024) - 227035005 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2570731024) - 227035005 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (484839029) - 227035005 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (484840027) - 227035005 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (36374021) - 227035005 -> 228050004 (116680003) View
116680003 \|Is a (attribute)\|	228050004 \|21q partial trisomy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
228050004 View
228050004	21q partial trisomy (disorder)	21q partial trisomy	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 (10fc3c4c-3beb-5cd6-9ac8-a07f441b904a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q90.9	TRUE	ALWAYS Q90.9	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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