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Terminology chevron_right Concepts chevron_right 764629008

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Component

764629008

The component that hold information about this concept.

Fully Specified Name (FSN)

Mosaic trisomy 5 syndrome (disorder)

Shortest Term

Trisomy 5 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 5 syndrome (disorder)

SCTID: 764629008, Defined, Active

764629008|Mosaic trisomy 5 syndrome (disorder)|

en Mosaic trisomy 5 syndrome
en Mosaic trisomy 5 syndrome (disorder)
en Mosaic trisomy chromosome 5
en Trisomy 5 mosaicism

Expression

764629008 |Mosaic trisomy 5 syndrome (disorder)|
 === 57361003 |Anomaly of chromosome pair 5 (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)| = 12399004 |Chromosome pair 5 (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)| = 12399004 |Chromosome pair 5 (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
3654267010 - Mosaic trisomy 5 syndrome (en) View
3654267010	en	Synonym (core metadata concept)	Mosaic trisomy 5 syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3654266018 - Mosaic trisomy 5 syndrome (disorder) (en) View
3654266018	en	Fully specified name (core metadata concept)	Mosaic trisomy 5 syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3654268017 - Mosaic trisomy chromosome 5 (en) View
3654268017	en	Synonym (core metadata concept)	Mosaic trisomy chromosome 5	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3654265019 - Trisomy 5 mosaicism (en) View
3654265019	en	Synonym (core metadata concept)	Trisomy 5 mosaicism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9195944027) - 764629008 -> 11704001 (116676008) View
116676008 \|Associated morphology (attribute)\|	11704001 \|Chromosome mosaicism (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9238079026) - 764629008 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13778936026) - 764629008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13778937024) - 764629008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13778938025) - 764629008 -> 11704001 (116676008) View
116676008 \|Associated morphology (attribute)\|	11704001 \|Chromosome mosaicism (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13778939022) - 764629008 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13778940024) - 764629008 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194055023) - 764629008 -> 57361003 (116680003) View
116680003 \|Is a (attribute)\|	57361003 \|Anomaly of chromosome pair 5 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194056024) - 764629008 -> 270521004 (116680003) View
116680003 \|Is a (attribute)\|	270521004 \|Trisomy and partial trisomy of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194058020) - 764629008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194059028) - 764629008 -> 12399004 (363698007) View
363698007 \|Finding site (attribute)\|	12399004 \|Chromosome pair 5 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9223668029) - 764629008 -> 12399004 (363698007) View
363698007 \|Finding site (attribute)\|	12399004 \|Chromosome pair 5 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9223669021) - 764629008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
57361003 View
57361003	Anomaly of chromosome pair 5 (disorder)	Anomaly of chromosome pair 5	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 (ed8c6d12-04ff-5e39-b96c-d87d4bcbe006) 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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