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Terminology chevron_right Concepts chevron_right 32107005

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Language with ID “ad705c39-e2bb-508f-8f99-fb6ced78c20f” doesn’t exist. Perhaps it was deleted?

Component

32107005

The component that hold information about this concept.

Fully Specified Name (FSN)

Anomaly of chromosome pair 17 (disorder)

Shortest Term

Anomaly of chromosome pair 17

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 17 (disorder)

SCTID: 32107005, Defined, Active

32107005|Anomaly of chromosome pair 17 (disorder)|

en Anomaly of chromosome pair 17
en Anomaly of chromosome pair 17 (disorder)

Expression

32107005 |Anomaly of chromosome pair 17 (disorder)|
 === 362984008 |Anomaly of chromosome pair (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 45201007 |Chromosome pair 17 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
53647017 - Anomaly of chromosome pair 17 (en) View
53647017	en	Synonym (core metadata concept)	Anomaly of chromosome pair 17	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
763352014 - Anomaly of chromosome pair 17 (disorder) (en) View
763352014	en	Fully specified name (core metadata concept)	Anomaly of chromosome pair 17 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
53648010 - Anomaly of chromosome pair 17, NOS (en) View
53648010	en	Synonym (core metadata concept)	Anomaly of chromosome pair 17, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (752230020) - 32107005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3400617026) - 32107005 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5007845020) - 32107005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010444022) - 32107005 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010445023) - 32107005 -> 45201007 (363698007) View
363698007 \|Finding site (attribute)\|	45201007 \|Chromosome pair 17 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3400618020) - 32107005 -> 45201007 (363698007) View
363698007 \|Finding site (attribute)\|	45201007 \|Chromosome pair 17 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (752232028) - 32107005 -> 45201007 (363698007) View
363698007 \|Finding site (attribute)\|	45201007 \|Chromosome pair 17 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2594119025) - 32107005 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (752231024) - 32107005 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (200263022) - 32107005 -> 95462004 (116680003) View
116680003 \|Is a (attribute)\|	95462004 \|Anomaly of sex chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (752229026) - 32107005 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2461414028) - 32107005 -> 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
778043005 View
778043005	Ring chromosome 17 syndrome (disorder)	Ring 17	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
764622004 View
764622004	Mosaic trisomy 17 syndrome (disorder)	Trisomy 17 mosaicism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726356000 View
726356000	Partial trisomy of chromosome 17 (disorder)	Duplication of chromosome 17	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726389000 View
726389000	Deletion of part of chromosome 17 (disorder)	Deletion of part of chromosome 17	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
717338006 View
717338006	Koolen de vries syndrome (disorder)	Koolen de vries 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 (f831d052-96d6-5c00-91d3-8a8c79b0bb10) 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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