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Terminology chevron_right Concepts chevron_right 50749006

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Component

50749006

The component that hold information about this concept.

Fully Specified Name (FSN)

Double y syndrome (disorder)

Shortest Term

Y disomy

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

Double y syndrome (disorder)

SCTID: 50749006, Primitive, Active

50749006|Double y syndrome (disorder)|

en 47,xyy syndrome
en Y disomy
en Double y syndrome
en Double y syndrome (disorder)
en Xyy syndrome

Expression

50749006 |Double y syndrome (disorder)|
 <<< 254284003 |Sex chromosome abnormality - male phenotype (disorder)| + 
81438002 |Anomaly of chromosome y (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
725084009 |Sex chromosome aneuploidy (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4572066016 - 47,XYY syndrome (en) View
4572066016	en	Synonym (core metadata concept)	47,XYY syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
4572065017 - Y disomy (en) View
4572065017	en	Synonym (core metadata concept)	Y disomy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
84580015 - Double Y syndrome (en) View
84580015	en	Synonym (core metadata concept)	Double Y syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
788571019 - Double Y syndrome (disorder) (en) View
788571019	en	Fully specified name (core metadata concept)	Double Y syndrome (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
84581016 - XYY syndrome (en) View
84581016	en	Synonym (core metadata concept)	XYY syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5011268024) - 50749006 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13802982023) - 50749006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13802983029) - 50749006 -> 80056000 (116676008) View
116676008 \|Associated morphology (attribute)\|	80056000 \|Aneuploidy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13802984024) - 50749006 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13802985020) - 50749006 -> 725084009 (116680003) View
116680003 \|Is a (attribute)\|	725084009 \|Sex chromosome aneuploidy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (798595026) - 50749006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3447079022) - 50749006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008745026) - 50749006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011269027) - 50749006 -> 5421003 (363698007) View
363698007 \|Finding site (attribute)\|	5421003 \|Sex chromosome y (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3460023027) - 50749006 -> 5421003 (363698007) View
363698007 \|Finding site (attribute)\|	5421003 \|Sex chromosome y (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (798594027) - 50749006 -> 5421003 (363698007) View
363698007 \|Finding site (attribute)\|	5421003 \|Sex chromosome y (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2597224028) - 50749006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (798596025) - 50749006 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (230584028) - 50749006 -> 254284003 (116680003) View
116680003 \|Is a (attribute)\|	254284003 \|Sex chromosome abnormality - male phenotype (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (230585027) - 50749006 -> 81438002 (116680003) View
116680003 \|Is a (attribute)\|	81438002 \|Anomaly of chromosome y (disorder)\|	0	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
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	900000000000074008 \|Necessary but not sufficient concept 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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (90043733-f99d-5d51-b508-3cffa0067f29) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q98.5	TRUE	ALWAYS Q98.5	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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