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Terminology chevron_right Concepts chevron_right 95462004

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Component

95462004

The component that hold information about this concept.

Fully Specified Name (FSN)

Anomaly of sex chromosome (disorder)

Shortest Term

Anomaly of sex chromosome

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Anomaly of sex chromosome (disorder)

SCTID: 95462004, Defined, Active

95462004|Anomaly of sex chromosome (disorder)|

en Anomaly of sex chromosome
en Anomaly of sex chromosome (disorder)

Expression

95462004 |Anomaly of sex chromosome (disorder)|
 === 74345006 |Congenital disorder due to abnormality of chromosome number or structure (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 312238009 |Chromosome 23 structure (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
158120012 - Anomaly of sex chromosome (en) View
158120012	en	Synonym (core metadata concept)	Anomaly of sex chromosome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
839621019 - Anomaly of sex chromosome (disorder) (en) View
839621019	en	Fully specified name (core metadata concept)	Anomaly of sex chromosome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
158121011 - Anomaly of sex chromosome, NOS (en) View
158121011	en	Synonym (core metadata concept)	Anomaly of sex chromosome, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3514097021) - 95462004 -> 74345006 (116680003) View
116680003 \|Is a (attribute)\|	74345006 \|Congenital disorder due to abnormality of chromosome number or structure (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011538025) - 95462004 -> 362984008 (116680003) View
116680003 \|Is a (attribute)\|	362984008 \|Anomaly of chromosome pair (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011540024) - 95462004 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16364548026) - 95462004 -> 312238009 (363698007) View
363698007 \|Finding site (attribute)\|	312238009 \|Chromosome 23 structure (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (929647026) - 95462004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3435091026) - 95462004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5009114029) - 95462004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011539022) - 95462004 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (307217028) - 95462004 -> 362984008 (116680003) View
116680003 \|Is a (attribute)\|	362984008 \|Anomaly of chromosome pair (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3435090025) - 95462004 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (929648020) - 95462004 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2604935020) - 95462004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (929649028) - 95462004 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
74345006 View
74345006	Congenital disorder due to abnormality of chromosome number or structure (disorder)	Chromosomopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
205706002 View
205706002	Sex chromosome mosaicism (disorder)	Sex chromosome mosaicism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
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
36114005 View
36114005	Sex phenotype-karyotype dissociation syndrome (disorder)	Sex phenotype-karyotype dissociation syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254277006 View
254277006	Sex chromosome abnormality - female phenotype (disorder)	Sex chromosome abnormality - female phenotype	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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (350eb9be-98ef-5737-8305-29b82149c752) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q99.8	TRUE	ALWAYS Q99.8	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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