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Terminology chevron_right Concepts chevron_right 770908007

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Component

770908007

The component that hold information about this concept.

Fully Specified Name (FSN)

49,xxxyy syndrome (disorder)

Shortest Term

49,xxxyy 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

49,xxxyy syndrome (disorder)

SCTID: 770908007, Primitive, Active

770908007|49,xxxyy syndrome (disorder)|

en 49,xxxyy syndrome
en 49,xxxyy syndrome (disorder)

Expression

770908007 |49,xxxyy syndrome (disorder)|
 <<< 81438002 |Anomaly of chromosome y (disorder)| + 
725084009 |Sex chromosome aneuploidy (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
111312006 |Anomaly of chromosome x (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 80056000 |Aneuploidy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 5421003 |Sex chromosome y (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 80056000 |Aneuploidy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 72837006 |Sex chromosome x (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3703371012 - 49,XXXYY syndrome (en) View
3703371012	en	Synonym (core metadata concept)	49,XXXYY syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3703373010 - 49,XXXYY syndrome (disorder) (en) View
3703373010	en	Fully specified name (core metadata concept)	49,XXXYY syndrome (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9644054029) - 770908007 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9644059023) - 770908007 -> 5421003 (363698007) View
363698007 \|Finding site (attribute)\|	5421003 \|Sex chromosome y (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13796634025) - 770908007 -> 5421003 (363698007) View
363698007 \|Finding site (attribute)\|	5421003 \|Sex chromosome y (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13796635029) - 770908007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13796636028) - 770908007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13796637021) - 770908007 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13796638027) - 770908007 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9644055028) - 770908007 -> 80056000 (116676008) View
116676008 \|Associated morphology (attribute)\|	80056000 \|Aneuploidy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9644056027) - 770908007 -> 725084009 (116680003) View
116680003 \|Is a (attribute)\|	725084009 \|Sex chromosome aneuploidy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9644057020) - 770908007 -> 81438002 (116680003) View
116680003 \|Is a (attribute)\|	81438002 \|Anomaly of chromosome y (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9644058026) - 770908007 -> 111312006 (116680003) View
116680003 \|Is a (attribute)\|	111312006 \|Anomaly of chromosome x (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9644060029) - 770908007 -> 80056000 (116676008) View
116676008 \|Associated morphology (attribute)\|	80056000 \|Aneuploidy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9644061025) - 770908007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9644062021) - 770908007 -> 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
725084009 View
725084009	Sex chromosome aneuploidy (disorder)	Sex chromosome aneuploidy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
81438002 View
81438002	Anomaly of chromosome y (disorder)	Anomaly of chromosome y	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
111312006 View
111312006	Anomaly of chromosome x (disorder)	Anomaly of chromosome x	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation 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 (24809672-e8f0-5475-909d-478b0ec47756) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q98.8	TRUE	ALWAYS Q98.8	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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