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Terminology chevron_right Concepts chevron_right 1003389000

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Component

1003389000

The component that hold information about this concept.

Fully Specified Name (FSN)

Mosaic 1q duplication (disorder)

Shortest Term

Mosaic 1q duplication

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

Mosaic 1q duplication (disorder)

SCTID: 1003389000, Defined, Active

1003389000|Mosaic 1q duplication (disorder)|

en Mosaic 1q duplication
en Mosaic 1q duplication (disorder)

Expression

1003389000 |Mosaic 1q duplication (disorder)|
 === 768931007 |Partial trisomy of long arm of chromosome 1 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 11704001 |Chromosome mosaicism (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 46507000 |Chromosome pair 1 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 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)| = 46507000 |Chromosome pair 1 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4168139015 - Mosaic 1q duplication (en) View
4168139015	en	Synonym (core metadata concept)	Mosaic 1q duplication	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4168140018 - Mosaic 1q duplication (disorder) (en) View
4168140018	en	Fully specified name (core metadata concept)	Mosaic 1q duplication (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13184671022) - 1003389000 -> 829974003 (116680003) View
116680003 \|Is a (attribute)\|	829974003 \|Mosaic trisomy 1 syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13184673020) - 1003389000 -> 11704001 (116676008) View
116676008 \|Associated morphology (attribute)\|	11704001 \|Chromosome mosaicism (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13184674025) - 1003389000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13184675029) - 1003389000 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13184679024) - 1003389000 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13184680022) - 1003389000 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13184681021) - 1003389000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13189514029) - 1003389000 -> 768931007 (116680003) View
116680003 \|Is a (attribute)\|	768931007 \|Partial trisomy of long arm of chromosome 1 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13189515028) - 1003389000 -> 312242007 (363698007) View
363698007 \|Finding site (attribute)\|	312242007 \|Long arm of chromosome (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13189516027) - 1003389000 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13189517020) - 1003389000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
768931007 View
768931007	Partial trisomy of long arm of chromosome 1 (disorder)	Partial trisomy of long arm of chromosome 1	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 (4f4b97f3-cbbc-5eb3-b553-793cf7b93cc6) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q92.2	TRUE	ALWAYS Q92.2	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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