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Terminology chevron_right Concepts chevron_right 782692004

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Component

782692004

The component that hold information about this concept.

Fully Specified Name (FSN)

Maternal uniparental disomy of chromosome 22 (disorder)

Shortest Term

Maternal uniparental disomy of chromosome 22

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

Maternal uniparental disomy of chromosome 22 (disorder)

SCTID: 782692004, Defined, Active

782692004|Maternal uniparental disomy of chromosome 22 (disorder)|

en Maternal uniparental disomy of chromosome 22
en Maternal uniparental disomy of chromosome 22 (disorder)
en Upd(22)mat - maternal uniparental disomy of chromosome 22

Expression

782692004 |Maternal uniparental disomy of chromosome 22 (disorder)|
 === 70452003 |Anomaly of chromosome pair 22 (disorder)| + 
726401004 |Uniparental disomy of maternal origin (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 41669009 |Alteration of chromosome structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 79229009 |Chromosome pair 22 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3755240014 - Maternal uniparental disomy of chromosome 22 (en) View
3755240014	en	Synonym (core metadata concept)	Maternal uniparental disomy of chromosome 22	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3755239012 - Maternal uniparental disomy of chromosome 22 (disorder) (en) View
3755239012	en	Fully specified name (core metadata concept)	Maternal uniparental disomy of chromosome 22 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3755238016 - UPD(22)mat - maternal uniparental disomy of chromosome 22 (en) View
3755238016	en	Synonym (core metadata concept)	UPD(22)mat - maternal uniparental disomy of chromosome 22	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11227947028) - 782692004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227948022) - 782692004 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227949025) - 782692004 -> 70452003 (116680003) View
116680003 \|Is a (attribute)\|	70452003 \|Anomaly of chromosome pair 22 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227950025) - 782692004 -> 726401004 (116680003) View
116680003 \|Is a (attribute)\|	726401004 \|Uniparental disomy of maternal origin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11227951026) - 782692004 -> 79229009 (363698007) View
363698007 \|Finding site (attribute)\|	79229009 \|Chromosome pair 22 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
726401004 View
726401004	Uniparental disomy of maternal origin (disorder)	Maternal uniparental disomy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
70452003 View
70452003	Anomaly of chromosome pair 22 (disorder)	Anomaly of chromosome pair 22	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 (8d0a9cb6-43f4-5530-aa16-919f280ef42d) 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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