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Terminology chevron_right Concepts chevron_right 362984008

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Component

362984008

The component that hold information about this concept.

Fully Specified Name (FSN)

Anomaly of chromosome pair (disorder)

Shortest Term

Anomaly of chromosome pair

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 (disorder)

SCTID: 362984008, Defined, Active

362984008|Anomaly of chromosome pair (disorder)|

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

Expression

362984008 |Anomaly of chromosome pair (disorder)|
 === 74345006 |Congenital disorder due to abnormality of chromosome number or structure (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 1370913007 |Chromosome pair (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
482119018 - Anomaly of chromosome pair (en) View
482119018	en	Synonym (core metadata concept)	Anomaly of chromosome pair	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
754757011 - Anomaly of chromosome pair (disorder) (en) View
754757011	en	Fully specified name (core metadata concept)	Anomaly of chromosome pair (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5003698021) - 362984008 -> 91272006 (363698007) View
363698007 \|Finding site (attribute)\|	91272006 \|Chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16405011026) - 362984008 -> 1370913007 (363698007) View
363698007 \|Finding site (attribute)\|	1370913007 \|Chromosome pair (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (933161023) - 362984008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3346195029) - 362984008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5010368029) - 362984008 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024550023) - 362984008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3450003026) - 362984008 -> 91272006 (363698007) View
363698007 \|Finding site (attribute)\|	91272006 \|Chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (933163021) - 362984008 -> 91272006 (363698007) View
363698007 \|Finding site (attribute)\|	91272006 \|Chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2605142029) - 362984008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (313462020) - 362984008 -> 123946008 (116680003) View
116680003 \|Is a (attribute)\|	123946008 \|Disorder by body site (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (933162027) - 362984008 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (313461029) - 362984008 -> 74345006 (116680003) View
116680003 \|Is a (attribute)\|	74345006 \|Congenital disorder due to abnormality of chromosome number or structure (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
74345006 View
74345006	Congenital disorder due to abnormality of chromosome number or structure (disorder)	Chromosomopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
2893009 View
2893009	Anomaly of chromosome pair 10 (disorder)	Anomaly of chromosome pair 10	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
5051002 View
5051002	Anomaly of chromosome pair 9 (disorder)	Anomaly of chromosome pair 9	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
9839007 View
9839007	Anomaly of chromosome pair 20 (disorder)	Anomaly of chromosome pair 20	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
13674001 View
13674001	Anomaly of chromosome pair 3 (disorder)	Anomaly of chromosome pair 3	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
16569009 View
16569009	Anomaly of chromosome pair 15 (disorder)	Anomaly of chromosome pair 15	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
17760001 View
17760001	Anomaly of chromosome pair 13 (disorder)	Anomaly of chromosome pair 13	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
27183007 View
27183007	Anomaly of chromosome pair 14 (disorder)	Anomaly of chromosome pair 14	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
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
32299009 View
32299009	Anomaly of chromosome pair 2 (disorder)	Anomaly of chromosome pair 2	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
37367006 View
37367006	Anomaly of chromosome pair 7 (disorder)	Anomaly of chromosome pair 7	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
37535007 View
37535007	Anomaly of chromosome pair 12 (disorder)	Anomaly of chromosome pair 12	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
44710007 View
44710007	Anomaly of chromosome pair 6 (disorder)	Anomaly of chromosome pair 6	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
48082007 View
48082007	Anomaly of chromosome pair 8 (disorder)	Anomaly of chromosome pair 8	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
53392002 View
53392002	Anomaly of chromosome pair 16 (disorder)	Anomaly of chromosome pair 16	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
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
59033006 View
59033006	Anomaly of chromosome pair 18 (disorder)	Anomaly of chromosome pair 18	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
60891003 View
60891003	Anomaly of chromosome pair 11 (disorder)	Anomaly of chromosome pair 11	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
70156005 View
70156005	Anomaly of chromosome pair 21 (disorder)	Anomaly of chromosome pair 21	900000000000073002 \|Sufficiently defined by necessary conditions 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
74769007 View
74769007	Anomaly of chromosome pair 1 (disorder)	Anomaly of chromosome pair 1	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
79656000 View
79656000	Anomaly of chromosome pair 19 (disorder)	Anomaly of chromosome pair 19	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
84711007 View
84711007	Anomaly of chromosome pair 4 (disorder)	Anomaly of chromosome pair 4	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 (abb9093e-de27-500d-b2f7-b14b4ca40843) 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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