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Terminology chevron_right Concepts chevron_right 228050004

Production

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Component

228050004

The component that hold information about this concept.

Fully Specified Name (FSN)

21q partial trisomy (disorder)

Shortest Term

21q partial trisomy

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

21q partial trisomy (disorder)

SCTID: 228050004, Defined, Active

228050004|21q partial trisomy (disorder)|

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

Expression

228050004 |21q partial trisomy (disorder)|
 === 726361003 |Partial trisomy of chromosome 21 (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
4555284018 - 21q partial trisomy (en) View
4555284018	en	Synonym (core metadata concept)	21q partial trisomy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4555283012 - 21q partial trisomy (disorder) (en) View
4555283012	en	Fully specified name (core metadata concept)	21q partial trisomy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
342042011 - 21q partial trisomy syndrome (en) View
342042011	en	Synonym (core metadata concept)	21q partial trisomy syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
615592013 - 21q partial trisomy syndrome (disorder) (en) View
615592013	en	Fully specified name (core metadata concept)	21q partial trisomy syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (37567022) - 228050004 -> 70156005 (116680003) View
116680003 \|Is a (attribute)\|	70156005 \|Anomaly of chromosome pair 21 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011411024) - 228050004 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011412028) - 228050004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13753933024) - 228050004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753934029) - 228050004 -> 726361003 (116680003) View
116680003 \|Is a (attribute)\|	726361003 \|Partial trisomy of chromosome 21 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753935028) - 228050004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753936027) - 228050004 -> 312242007 (363698007) View
363698007 \|Finding site (attribute)\|	312242007 \|Long arm of chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753937020) - 228050004 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753938026) - 228050004 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (485501022) - 228050004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3318838027) - 228050004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008911026) - 228050004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3318839024) - 228050004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (485502026) - 228050004 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2570740023) - 228050004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (485504025) - 228050004 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (485503020) - 228050004 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
726361003 View
726361003	Partial trisomy of chromosome 21 (disorder)	Duplication of chromosome 21	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
227035005 View
227035005	21q partial distal trisomy (disorder)	21q partial distal trisomy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (e38b45f3-f95e-5b3f-a831-65f24d802f9e) 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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