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Terminology chevron_right Concepts chevron_right 57361003

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Component

57361003

The component that hold information about this concept.

Fully Specified Name (FSN)

Anomaly of chromosome pair 5 (disorder)

Shortest Term

Anomaly of chromosome pair 5

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 5 (disorder)

SCTID: 57361003, Defined, Active

57361003|Anomaly of chromosome pair 5 (disorder)|

en Anomaly of chromosome pair 5
en Anomaly of chromosome pair 5 (disorder)

Expression

57361003 |Anomaly of chromosome pair 5 (disorder)|
 === 362984008 |Anomaly of chromosome pair (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 12399004 |Chromosome pair 5 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
95401013 - Anomaly of chromosome pair 5 (en) View
95401013	en	Synonym (core metadata concept)	Anomaly of chromosome pair 5	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
795975015 - Anomaly of chromosome pair 5 (disorder) (en) View
795975015	en	Fully specified name (core metadata concept)	Anomaly of chromosome pair 5 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
95402018 - Anomaly of chromosome pair 5, NOS (en) View
95402018	en	Synonym (core metadata concept)	Anomaly of chromosome pair 5, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (816259023) - 57361003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3400328023) - 57361003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5007951025) - 57361003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010511025) - 57361003 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010512021) - 57361003 -> 12399004 (363698007) View
363698007 \|Finding site (attribute)\|	12399004 \|Chromosome pair 5 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3400329026) - 57361003 -> 12399004 (363698007) View
363698007 \|Finding site (attribute)\|	12399004 \|Chromosome pair 5 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (816261025) - 57361003 -> 12399004 (363698007) View
363698007 \|Finding site (attribute)\|	12399004 \|Chromosome pair 5 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2598272029) - 57361003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (816258026) - 57361003 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (241402023) - 57361003 -> 95462004 (116680003) View
116680003 \|Is a (attribute)\|	95462004 \|Anomaly of sex chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (816260029) - 57361003 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2462558028) - 57361003 -> 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
770669004 View
770669004	Paternal uniparental disomy of chromosome 5 (disorder)	Paternal uniparental disomy of chromosome 5	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1010614003 View
1010614003	Tetrasomy 5p mosaicism (disorder)	Tetrasomy 5p mosaicism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764629008 View
764629008	Mosaic trisomy 5 syndrome (disorder)	Trisomy 5 mosaicism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
765487008 View
765487008	Ring chromosome 5 syndrome (disorder)	Ring chromosome 5	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
766755003 View
766755003	Tetrasomy 5p (disorder)	Tetrasomy 5p	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
726343007 View
726343007	Partial trisomy of chromosome 5 (disorder)	Duplication of chromosome 5	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726372008 View
726372008	Deletion of part of chromosome 5 (disorder)	Deletion of part of chromosome 5	900000000000073002 \|Sufficiently defined by necessary conditions 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 (0ed377d8-0891-5c74-bda3-20b51fed7f48) 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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