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Terminology chevron_right Concepts chevron_right 10567003

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Component

10567003

The component that hold information about this concept.

Fully Specified Name (FSN)

Four x syndrome (disorder)

Shortest Term

Tetra x

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

Four x syndrome (disorder)

SCTID: 10567003, Primitive, Active

10567003|Four x syndrome (disorder)|

en 48,xxxx syndrome
en Quadruple x
en Tetrasomy x syndrome
en Tetrasomy x syndrome (disorder)
en Tetra x
en Four x syndrome
en Tetrasomy x
en Xxxx syndrome

Expression

10567003 |Four x syndrome (disorder)|
 <<< 254282004 |Female with more than three x chromosomes (disorder)| + 
111312006 |Anomaly of chromosome x (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
725084009 |Sex chromosome aneuploidy (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 29996004 |Tetrasomy (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)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body 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
5444496013 - 48,XXXX syndrome (en) View
5444496013	en	Synonym (core metadata concept)	48,XXXX syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
573913014 - Four X syndrome (disorder) (en) View
573913014	en	Fully specified name (core metadata concept)	Four X syndrome (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
5444495012 - Quadruple X (en) View
5444495012	en	Synonym (core metadata concept)	Quadruple X	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
5444498014 - Tetrasomy X syndrome (en) View
5444498014	en	Synonym (core metadata concept)	Tetrasomy X syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
5444543019 - Tetrasomy X syndrome (disorder) (en) View
5444543019	en	Fully specified name (core metadata concept)	Tetrasomy X syndrome (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
5444497016 - Tetra X (en) View
5444497016	en	Synonym (core metadata concept)	Tetra X	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
18368012 - Four X syndrome (en) View
18368012	en	Synonym (core metadata concept)	Four X syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
195288018 - Tetrasomy X (en) View
195288018	en	Synonym (core metadata concept)	Tetrasomy X	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
18369016 - XXXX syndrome (en) View
18369016	en	Synonym (core metadata concept)	XXXX syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (2822155029) - 10567003 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5008955021) - 10567003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5851945029) - 10567003 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6047026024) - 10567003 -> 107675007 (116676008) View
116676008 \|Associated morphology (attribute)\|	107675007 \|Chromosomal morphology (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13796719028) - 10567003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13796720023) - 10567003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13796721022) - 10567003 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13796722026) - 10567003 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13796723020) - 10567003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13803018023) - 10567003 -> 725084009 (116680003) View
116680003 \|Is a (attribute)\|	725084009 \|Sex chromosome aneuploidy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3520604028) - 10567003 -> 29996004 (116676008) View
116676008 \|Associated morphology (attribute)\|	29996004 \|Tetrasomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011435025) - 10567003 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011436029) - 10567003 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5851944025) - 10567003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (462171027) - 10567003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3520605027) - 10567003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (462173029) - 10567003 -> 29996004 (116676008) View
116676008 \|Associated morphology (attribute)\|	29996004 \|Tetrasomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2568484024) - 10567003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3094047024) - 10567003 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3094048025) - 10567003 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2979929026) - 10567003 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2979930020) - 10567003 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2915049027) - 10567003 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2915050027) - 10567003 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2822156028) - 10567003 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675227029) - 10567003 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675228023) - 10567003 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (462172023) - 10567003 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2526620027) - 10567003 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (462170026) - 10567003 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2530606024) - 10567003 -> 111312006 (116680003) View
116680003 \|Is a (attribute)\|	111312006 \|Anomaly of chromosome x (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (19107025) - 10567003 -> 254282004 (116680003) View
116680003 \|Is a (attribute)\|	254282004 \|Female with more than three x chromosomes (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
111312006 View
111312006	Anomaly of chromosome x (disorder)	Anomaly of chromosome x	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254282004 View
254282004	Female with more than three x chromosomes (disorder)	Female with more than three x chromosomes	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 (395f3044-c6e9-5f93-a2d0-15541693be9d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q97.1	TRUE	ALWAYS Q97.1	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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