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Terminology chevron_right Concepts chevron_right 48082007

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Component

48082007

The component that hold information about this concept.

Fully Specified Name (FSN)

Anomaly of chromosome pair 8 (disorder)

Shortest Term

Anomaly of chromosome pair 8

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 chromosome pair 8 (disorder)

SCTID: 48082007, Defined, Active

48082007|Anomaly of chromosome pair 8 (disorder)|

en Anomaly of chromosome pair 8
en Anomaly of chromosome pair 8 (disorder)

Expression

48082007 |Anomaly of chromosome pair 8 (disorder)|
 === 362984008 |Anomaly of chromosome pair (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 77826001 |Chromosome pair 8 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
80127019 - Anomaly of chromosome pair 8 (en) View
80127019	en	Synonym (core metadata concept)	Anomaly of chromosome pair 8	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
785611019 - Anomaly of chromosome pair 8 (disorder) (en) View
785611019	en	Fully specified name (core metadata concept)	Anomaly of chromosome pair 8 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
80128012 - Anomaly of chromosome pair 8, NOS (en) View
80128012	en	Synonym (core metadata concept)	Anomaly of chromosome pair 8, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (792624024) - 48082007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3303238029) - 48082007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008070024) - 48082007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010656025) - 48082007 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010657023) - 48082007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3303239021) - 48082007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (792621027) - 48082007 -> 77826001 (363698007) View
363698007 \|Finding site (attribute)\|	77826001 \|Chromosome pair 8 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2596802026) - 48082007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (792623029) - 48082007 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (226343026) - 48082007 -> 95462004 (116680003) View
116680003 \|Is a (attribute)\|	95462004 \|Anomaly of sex chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (792622023) - 48082007 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2462134023) - 48082007 -> 362984008 (116680003) View
116680003 \|Is a (attribute)\|	362984008 \|Anomaly of chromosome pair (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
362984008 View
362984008	Anomaly of chromosome pair (disorder)	Anomaly of chromosome pair	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
717335009 View
717335009	Mosaic trisomy 8 syndrome (disorder)	Mosaic trisomy 8	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726347008 View
726347008	Partial trisomy of chromosome 8 (disorder)	Duplication of chromosome 8	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726378007 View
726378007	Deletion of part of chromosome 8 (disorder)	Deletion of part of chromosome 8	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
715983001 View
715983001	Ring chromosome 8 syndrome (disorder)	Ring chromosome 8 syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
718188007 View
718188007	8p inverted duplication deletion syndrome (disorder)	8p inverted duplication deletion syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718189004 View
718189004	Recombinant chromosome 8 syndrome (disorder)	San luis valley syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
68454002 View
68454002	Complete trisomy 8 syndrome (disorder)	Warkany syndrome	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 (29c4025f-c378-564e-862d-43aa9545ee66) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q99.9	TRUE	ALWAYS Q99.9	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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