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Terminology chevron_right Concepts chevron_right 22053006

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Component

22053006

The component that hold information about this concept.

Fully Specified Name (FSN)

Klinefelter syndrome (disorder)

Shortest Term

Xxy syndrome

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

Klinefelter syndrome (disorder)

SCTID: 22053006, Primitive, Active

22053006|Klinefelter syndrome (disorder)|

en Klinefelter syndrome (disorder)
en Klinefelter's syndrome
en Klinefelter syndrome

Expression

22053006 |Klinefelter syndrome (disorder)|
 <<< 254284003 |Sex chromosome abnormality - male phenotype (disorder)| + 
111312006 |Anomaly of chromosome x (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 41669009 |Alteration of chromosome structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 72837006 |Sex chromosome x (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
481208011 - Klinefelter's syndrome karyotype 47 XXY (en) View
481208011	en	Synonym (core metadata concept)	Klinefelter's syndrome karyotype 47 XXY	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
481210013 - XXY Klinefelter's syndrome (en) View
481210013	en	Synonym (core metadata concept)	XXY Klinefelter's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
37001019 - XXY syndrome (en) View
37001019	en	Synonym (core metadata concept)	XXY syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
751418017 - Klinefelter syndrome (disorder) (en) View
751418017	en	Fully specified name (core metadata concept)	Klinefelter syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
481209015 - Klinefelter's syndrome (en) View
481209015	en	Synonym (core metadata concept)	Klinefelter's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
37000018 - Klinefelter syndrome (en) View
37000018	en	Synonym (core metadata concept)	Klinefelter syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6019190024) - 22053006 -> 254284003 (116680003) View
116680003 \|Is a (attribute)\|	254284003 \|Sex chromosome abnormality - male phenotype (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6019191023) - 22053006 -> 111312006 (116680003) View
116680003 \|Is a (attribute)\|	111312006 \|Anomaly of chromosome x (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6019192027) - 22053006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6019193021) - 22053006 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6019194026) - 22053006 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (184023024) - 22053006 -> 111312006 (116680003) View
116680003 \|Is a (attribute)\|	111312006 \|Anomaly of chromosome x (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (184024029) - 22053006 -> 254284003 (116680003) View
116680003 \|Is a (attribute)\|	254284003 \|Sex chromosome abnormality - male phenotype (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (727312022) - 22053006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (727313028) - 22053006 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (727314023) - 22053006 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
111312006 View
111312006	Anomaly of chromosome x (disorder)	Anomaly of chromosome x	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
254284003 View
254284003	Sex chromosome abnormality - male phenotype (disorder)	Sex chromosome abnormality - male phenotype	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
405769009 View
405769009	Klinefelter's syndrome, xxy (disorder)	Xxy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205699007 View
205699007	Klinefelter's syndrome, xxyy (disorder)	Klinefelter syndrome, xxyy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205700008 View
205700008	Klinefelter's syndrome, xy/xxy mosaic (disorder)	Klinefelter syndrome, xy/xxy mosaic	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
275263003 View
275263003	Klinefelter's syndrome xxxy (disorder)	Klinefelter syndrome xxxy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
275264009 View
275264009	Klinefelter's syndrome xxxxy (disorder)	Klinefelter syndrome xxxxy	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 (10ce35c5-e718-5a2a-b56b-927670d9526f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q98.4	TRUE	ALWAYS Q98.4	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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