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Terminology chevron_right Concepts chevron_right 726361003

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Component

726361003

The component that hold information about this concept.

Fully Specified Name (FSN)

Partial trisomy of chromosome 21 (disorder)

Shortest Term

Duplication of chromosome 21

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

Partial trisomy of chromosome 21 (disorder)

SCTID: 726361003, Defined, Active

726361003|Partial trisomy of chromosome 21 (disorder)|

en Duplication of chromosome 21
en Partial trisomy of chromosome 21
en Partial trisomy of chromosome 21 (disorder)

Expression

726361003 |Partial trisomy of chromosome 21 (disorder)|
 === 70156005 |Anomaly of chromosome pair 21 (disorder)| + 
270521004 |Trisomy and partial trisomy of autosome (disorder)| : 
        { 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
3498330012 - Duplication of chromosome 21 (en) View
3498330012	en	Synonym (core metadata concept)	Duplication of chromosome 21	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3498331011 - Partial trisomy of chromosome 21 (en) View
3498331011	en	Synonym (core metadata concept)	Partial trisomy of chromosome 21	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3498332016 - Partial trisomy of chromosome 21 (disorder) (en) View
3498332016	en	Fully specified name (core metadata concept)	Partial trisomy of chromosome 21 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6993999028) - 726361003 -> 70156005 (116680003) View
116680003 \|Is a (attribute)\|	70156005 \|Anomaly of chromosome pair 21 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994000026) - 726361003 -> 270521004 (116680003) View
116680003 \|Is a (attribute)\|	270521004 \|Trisomy and partial trisomy of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994001027) - 726361003 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994002023) - 726361003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994003029) - 726361003 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
70156005 View
70156005	Anomaly of chromosome pair 21 (disorder)	Anomaly of chromosome pair 21	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
270521004 View
270521004	Trisomy and partial trisomy of autosome (disorder)	Trisomy and partial trisomy of autosome	900000000000074008 \|Necessary but not sufficient concept definition status (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
897545002 View
897545002	Distal duplication of chromosome 21 (disorder)	Distal partial trisomy 21	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003905001 View
1003905001	Proximal duplication of chromosome 21 (disorder)	Proximal duplication of chromosome 21	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254264002 View
254264002	Partial trisomy 21 in down's syndrome (disorder)	Trisomy 21 - translocation	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 (64603c5a-0091-5aa5-9d8d-b80ee4d79358) 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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