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Terminology chevron_right Concepts chevron_right 205706002

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Component

205706002

The component that hold information about this concept.

Fully Specified Name (FSN)

Sex chromosome mosaicism (disorder)

Shortest Term

Sex chromosome mosaicism

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 mosaicism (disorder)

SCTID: 205706002, Defined, Active

205706002|Sex chromosome mosaicism (disorder)|

en Sex chromosome mosaicism
en Sex chromosome mosaicism (disorder)

Expression

205706002 |Sex chromosome mosaicism (disorder)|
 === 95462004 |Anomaly of sex chromosome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 8855009 |Mosaicism (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
315470017 - Sex chromosome mosaicism (en) View
315470017	en	Synonym (core metadata concept)	Sex chromosome mosaicism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
591110012 - Sex chromosome mosaicism (disorder) (en) View
591110012	en	Fully specified name (core metadata concept)	Sex chromosome mosaicism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5011236027) - 205706002 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16364550023) - 205706002 -> 312238009 (363698007) View
363698007 \|Finding site (attribute)\|	312238009 \|Chromosome 23 structure (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (971810025) - 205706002 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011235028) - 205706002 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13796750026) - 205706002 -> 8855009 (116676008) View
116676008 \|Associated morphology (attribute)\|	8855009 \|Mosaicism (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (971813028) - 205706002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3429442028) - 205706002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008704023) - 205706002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3429441024) - 205706002 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (971812022) - 205706002 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2615826026) - 205706002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (971811026) - 205706002 -> 302960008 (116676008) View
116676008 \|Associated morphology (attribute)\|	302960008 \|Mosaicism 45, x; 46, xx (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (331068027) - 205706002 -> 95462004 (116680003) View
116680003 \|Is a (attribute)\|	95462004 \|Anomaly of sex chromosome (disorder)\|	0	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
83579008 View
83579008	Mixed gonadal dysgenesis (disorder)	45, x/46, xy mosaicism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
123644009 View
123644009	Gynandromorphism syndrome (disorder)	Gynandromorphism syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205707006 View
205707006	Mosaic xo/xy (disorder)	Mosaic xo/xy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205708001 View
205708001	Mosaic xo/xx (disorder)	Mosaic xo/xx	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205709009 View
205709009	Mosaic xy/xxy (disorder)	Mosaic xy/xxy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205710004 View
205710004	Mosaic including xxxxy (disorder)	Mosaic including xxxxy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254283009 View
254283009	Mosaicism - lines with various numbers of x chromosomes (disorder)	Mosaicism - lines with various numbers of x chromosomes	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 (1390d36c-2314-5cf2-9fcc-8d4fc44c2e83) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q97.8	IFA 248152002 \| Female (finding) \|	IF FEMALE CHOOSE Q97.8 \| MAP IS CONTEXT DEPENDENT FOR GENDER	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (7c3fb681-ae6d-5090-9a7a-d83bf3d5952b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q98.7	IFA 248153007 \| Male (finding) \|	IF MALE CHOOSE Q98.7 \| MAP IS CONTEXT DEPENDENT FOR GENDER	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (de094419-83bc-5d6f-9996-4575f59255ad) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	-	OTHERWISE TRUE	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447638001 \|Map source concept cannot be classified with available data (foundation metadata concept)\|
ExtendedMap object (df0f1cd7-a584-5340-836b-c08afaa2816b) 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)\|

Terminology chevron_right Concepts chevron_right 205706002

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