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Terminology chevron_right Concepts chevron_right 764454003

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Component

764454003

The component that hold information about this concept.

Fully Specified Name (FSN)

Distal trisomy 13q (disorder)

Shortest Term

Distal trisomy 13q

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

Distal trisomy 13q (disorder)

SCTID: 764454003, Primitive, Active

764454003|Distal trisomy 13q (disorder)|

en Distal duplication 13q
en Distal trisomy 13q
en Distal trisomy 13q (disorder)
en Telomeric duplication 13q

Expression

764454003 |Distal trisomy 13q (disorder)|
 <<< 10572007 |13q partial trisomy syndrome (disorder)| + 
897549008 |Distal duplication of chromosome 13 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 55401003 |Chromosome pair 13 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3650161012 - Distal duplication 13q (en) View
3650161012	en	Synonym (core metadata concept)	Distal duplication 13q	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3650160013 - Distal trisomy 13q (en) View
3650160013	en	Synonym (core metadata concept)	Distal trisomy 13q	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3650159015 - Distal trisomy 13q (disorder) (en) View
3650159015	en	Fully specified name (core metadata concept)	Distal trisomy 13q (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3650162017 - Telomeric duplication 13q (en) View
3650162017	en	Synonym (core metadata concept)	Telomeric duplication 13q	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13110034020) - 764454003 -> 897549008 (116680003) View
116680003 \|Is a (attribute)\|	897549008 \|Distal duplication of chromosome 13 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9187127028) - 764454003 -> 10572007 (116680003) View
116680003 \|Is a (attribute)\|	10572007 \|13q partial trisomy syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9187128022) - 764454003 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9187129025) - 764454003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9187130024) - 764454003 -> 55401003 (363698007) View
363698007 \|Finding site (attribute)\|	55401003 \|Chromosome pair 13 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
897549008 View
897549008	Distal duplication of chromosome 13 (disorder)	Distal duplication of chromosome 13	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
10572007 View
10572007	13q partial trisomy syndrome (disorder)	13q partial trisomy syndrome	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 (13e97d4e-2957-56e1-a21e-96901df56ccd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q92.3	TRUE	ALWAYS Q92.3	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)\|
ExtendedMap object (88c6dddd-216b-5e75-b044-1f17103eb078) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q91.7	TRUE	ALWAYS Q91.7 \| MAPPED FOLLOWING WHO GUIDANCE \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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