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Terminology chevron_right Concepts chevron_right 254259001

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Component

254259001

The component that hold information about this concept.

Fully Specified Name (FSN)

Absence of sex chromosome (disorder)

Shortest Term

Absence 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

Absence of sex chromosome (disorder)

SCTID: 254259001, Defined, Active

254259001|Absence of sex chromosome (disorder)|

en Absence of sex chromosome
en Absence of sex chromosome (disorder)

Expression

254259001 |Absence of sex chromosome (disorder)|
 === 409709004 |Chromosomal disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 418560003 |Absence (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 312238009 |Chromosome 23 structure (cell structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
378489019 - Absence of sex chromosome (en) View
378489019	en	Synonym (core metadata concept)	Absence of sex chromosome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
645126018 - Absence of sex chromosome (disorder) (en) View
645126018	en	Fully specified name (core metadata concept)	Absence of sex chromosome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3295903020) - 254259001 -> 312238009 (363698007) View
363698007 \|Finding site (attribute)\|	312238009 \|Chromosome 23 structure (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5040350020) - 254259001 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3295904025) - 254259001 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5033412026) - 254259001 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3229017026) - 254259001 -> 312238009 (363698007) View
363698007 \|Finding site (attribute)\|	312238009 \|Chromosome 23 structure (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3234327022) - 254259001 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (340784028) - 254259001 -> 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)\|	False
Relationship (997917029) - 254259001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2617241020) - 254259001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2617242029) - 254259001 -> 312237004 (363698007) View
363698007 \|Finding site (attribute)\|	312237004 \|Chromosome structure (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3224031028) - 254259001 -> 409709004 (116680003) View
116680003 \|Is a (attribute)\|	409709004 \|Chromosomal disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (997918023) - 254259001 -> 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
409709004 View
409709004	Chromosomal disorder (disorder)	Chromosomal anomaly	900000000000073002 \|Sufficiently defined by necessary conditions 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 (f9b60f02-cb5b-50f5-8ebb-5975171cee90) 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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