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Terminology chevron_right Concepts chevron_right 764622004

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Component

764622004

The component that hold information about this concept.

Fully Specified Name (FSN)

Mosaic trisomy 17 syndrome (disorder)

Shortest Term

Trisomy 17 mosaicism

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

Mosaic trisomy 17 syndrome (disorder)

SCTID: 764622004, Defined, Active

764622004|Mosaic trisomy 17 syndrome (disorder)|

en Mosaic trisomy 17 syndrome
en Mosaic trisomy 17 syndrome (disorder)
en Mosaic trisomy chromosome 17
en Trisomy 17 mosaicism

Expression

764622004 |Mosaic trisomy 17 syndrome (disorder)|
 === 32107005 |Anomaly of chromosome pair 17 (disorder)| + 
270521004 |Trisomy and partial trisomy of autosome (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 11704001 |Chromosome mosaicism (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 45201007 |Chromosome pair 17 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 78989007 |Trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 45201007 |Chromosome pair 17 (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
3654230019 - Mosaic trisomy 17 syndrome (en) View
3654230019	en	Synonym (core metadata concept)	Mosaic trisomy 17 syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3654227014 - Mosaic trisomy 17 syndrome (disorder) (en) View
3654227014	en	Fully specified name (core metadata concept)	Mosaic trisomy 17 syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3654229012 - Mosaic trisomy chromosome 17 (en) View
3654229012	en	Synonym (core metadata concept)	Mosaic trisomy chromosome 17	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3654228016 - Trisomy 17 mosaicism (en) View
3654228016	en	Synonym (core metadata concept)	Trisomy 17 mosaicism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13884564029) - 764622004 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13884565028) - 764622004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13884566027) - 764622004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194008029) - 764622004 -> 32107005 (116680003) View
116680003 \|Is a (attribute)\|	32107005 \|Anomaly of chromosome pair 17 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194009021) - 764622004 -> 270521004 (116680003) View
116680003 \|Is a (attribute)\|	270521004 \|Trisomy and partial trisomy of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194011028) - 764622004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194012024) - 764622004 -> 45201007 (363698007) View
363698007 \|Finding site (attribute)\|	45201007 \|Chromosome pair 17 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9199126026) - 764622004 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224877027) - 764622004 -> 11704001 (116676008) View
116676008 \|Associated morphology (attribute)\|	11704001 \|Chromosome mosaicism (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224878021) - 764622004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224879029) - 764622004 -> 45201007 (363698007) View
363698007 \|Finding site (attribute)\|	45201007 \|Chromosome pair 17 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
32107005 View
32107005	Anomaly of chromosome pair 17 (disorder)	Anomaly of chromosome pair 17	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
270521004 View
270521004	Trisomy and partial trisomy of autosome (disorder)	Trisomy and partial trisomy of autosome	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 (97727cfc-2012-55b7-93fb-aa3b9476469a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q92.1	TRUE	ALWAYS Q92.1	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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