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Terminology chevron_right Concepts chevron_right 725084009

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Component

725084009

The component that hold information about this concept.

Fully Specified Name (FSN)

Sex chromosome aneuploidy (disorder)

Shortest Term

Sex chromosome aneuploidy

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

Sex chromosome aneuploidy (disorder)

SCTID: 725084009, Defined, Active

725084009|Sex chromosome aneuploidy (disorder)|

en Sex chromosome aneuploidy
en Sex chromosome aneuploidy (disorder)

Expression

725084009 |Sex chromosome aneuploidy (disorder)|
 === 95462004 |Anomaly of sex chromosome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 80056000 |Aneuploidy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 312238009 |Chromosome 23 structure (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3438399012 - Sex chromosome aneuploidy (en) View
3438399012	en	Synonym (core metadata concept)	Sex chromosome aneuploidy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3438398016 - Sex chromosome aneuploidy (disorder) (en) View
3438398016	en	Fully specified name (core metadata concept)	Sex chromosome aneuploidy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6882567021) - 725084009 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16364549023) - 725084009 -> 312238009 (363698007) View
363698007 \|Finding site (attribute)\|	312238009 \|Chromosome 23 structure (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6882564025) - 725084009 -> 95462004 (116680003) View
116680003 \|Is a (attribute)\|	95462004 \|Anomaly of sex chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6882565029) - 725084009 -> 80056000 (116676008) View
116676008 \|Associated morphology (attribute)\|	80056000 \|Aneuploidy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6882566028) - 725084009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
95462004 View
95462004	Anomaly of sex chromosome (disorder)	Anomaly of sex chromosome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
770908007 View
770908007	49,xxxyy syndrome (disorder)	49,xxxyy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733625003 View
733625003	48,xyyy syndrome (disorder)	48,xyyy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
734028007 View
734028007	49,xyyyy syndrome (disorder)	49,xyyyy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
10567003 View
10567003	Four x syndrome (disorder)	Tetra x	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
50749006 View
50749006	Double y syndrome (disorder)	Y disomy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205705003 View
205705003	Additional sex chromosome (disorder)	Additional sex chromosome	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 (ade03df8-25c8-509b-8877-44a630b3b4d5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q99.8	TRUE	ALWAYS Q99.8	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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