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Terminology chevron_right Concepts chevron_right 205699007

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Component

205699007

The component that hold information about this concept.

Fully Specified Name (FSN)

Klinefelter's syndrome, xxyy (disorder)

Shortest Term

Klinefelter syndrome, xxyy

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's syndrome, xxyy (disorder)

SCTID: 205699007, Primitive, Active

205699007|Klinefelter's syndrome, xxyy (disorder)|

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

Expression

205699007 |Klinefelter's syndrome, xxyy (disorder)|
 <<< 22053006 |Klinefelter syndrome (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
2839318017 - Klinefelter syndrome, XXYY (en) View
2839318017	en	Synonym (core metadata concept)	Klinefelter syndrome, XXYY	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
591103018 - Klinefelter's syndrome, XXYY (disorder) (en) View
591103018	en	Fully specified name (core metadata concept)	Klinefelter's syndrome, XXYY (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
315463017 - Klinefelter's syndrome, XXYY (en) View
315463017	en	Synonym (core metadata concept)	Klinefelter's syndrome, XXYY	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (2556680028) - 205699007 -> 268300003 (116680003) View
116680003 \|Is a (attribute)\|	268300003 \|Klinefelter's syndrome - male with more than two x chromosomes (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008993027) - 205699007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011463028) - 205699007 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011464023) - 205699007 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6019364029) - 205699007 -> 22053006 (116680003) View
116680003 \|Is a (attribute)\|	22053006 \|Klinefelter syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6019365028) - 205699007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6019366027) - 205699007 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6019367020) - 205699007 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (971801022) - 205699007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3378902021) - 205699007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3378901025) - 205699007 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (971803020) - 205699007 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2615823023) - 205699007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (971802026) - 205699007 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2464822029) - 205699007 -> 405770005 (116680003) View
116680003 \|Is a (attribute)\|	405770005 \|Klinefelter's syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (331065029) - 205699007 -> 22053006 (116680003) View
116680003 \|Is a (attribute)\|	22053006 \|Klinefelter syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
22053006 View
22053006	Klinefelter syndrome (disorder)	Xxy 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 (d678b3df-ca41-52f8-9dda-a88a49346089) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q98.1	TRUE	ALWAYS Q98.1	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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