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Terminology chevron_right Concepts chevron_right 59033006

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Component

59033006

The component that hold information about this concept.

Fully Specified Name (FSN)

Anomaly of chromosome pair 18 (disorder)

Shortest Term

Anomaly of chromosome pair 18

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 18 (disorder)

SCTID: 59033006, Defined, Active

59033006|Anomaly of chromosome pair 18 (disorder)|

en Anomaly of chromosome pair 18
en Anomaly of chromosome pair 18 (disorder)

Expression

59033006 |Anomaly of chromosome pair 18 (disorder)|
 === 362984008 |Anomaly of chromosome pair (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 11698001 |Chromosome pair 18 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
98106014 - Anomaly of chromosome pair 18 (en) View
98106014	en	Synonym (core metadata concept)	Anomaly of chromosome pair 18	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
797831016 - Anomaly of chromosome pair 18 (disorder) (en) View
797831016	en	Fully specified name (core metadata concept)	Anomaly of chromosome pair 18 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
98107017 - Anomaly of chromosome pair 18, NOS (en) View
98107017	en	Synonym (core metadata concept)	Anomaly of chromosome pair 18, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (820647021) - 59033006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3376189021) - 59033006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008945022) - 59033006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011431023) - 59033006 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011432027) - 59033006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3376188029) - 59033006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (820645029) - 59033006 -> 11698001 (363698007) View
363698007 \|Finding site (attribute)\|	11698001 \|Chromosome pair 18 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2598533029) - 59033006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (820646028) - 59033006 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (244092022) - 59033006 -> 95462004 (116680003) View
116680003 \|Is a (attribute)\|	95462004 \|Anomaly of sex chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (820644025) - 59033006 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2462654023) - 59033006 -> 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
698849002 View
698849002	Tetrasomy 18p (disorder)	18p tetrasomy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
88154004 View
88154004	Ring chromosome 18 syndrome (disorder)	Ring chromosome 18 syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726357009 View
726357009	Partial trisomy of chromosome 18 (disorder)	Duplication of chromosome 18	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726391008 View
726391008	Deletion of part of chromosome 18 (disorder)	Deletion of part of chromosome 18	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
51500006 View
51500006	Complete trisomy 18 syndrome (disorder)	Edwards syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254266000 View
254266000	Partial trisomy 18 in edward's syndrome (disorder)	Trisomy 18 - translocation	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 (b1d4032e-8866-59bd-a7e2-a2e2154f18da) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q99.8	TRUE	ALWAYS Q99.8	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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