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Terminology chevron_right Concepts chevron_right 16569009

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Component

16569009

The component that hold information about this concept.

Fully Specified Name (FSN)

Anomaly of chromosome pair 15 (disorder)

Shortest Term

Anomaly of chromosome pair 15

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 15 (disorder)

SCTID: 16569009, Defined, Active

16569009|Anomaly of chromosome pair 15 (disorder)|

en Anomaly of chromosome pair 15
en Anomaly of chromosome pair 15 (disorder)

Expression

16569009 |Anomaly of chromosome pair 15 (disorder)|
 === 362984008 |Anomaly of chromosome pair (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 71678009 |Chromosome pair 15 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
28033019 - Anomaly of chromosome pair 15 (en) View
28033019	en	Synonym (core metadata concept)	Anomaly of chromosome pair 15	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
743616010 - Anomaly of chromosome pair 15 (disorder) (en) View
743616010	en	Fully specified name (core metadata concept)	Anomaly of chromosome pair 15 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
28034013 - Anomaly of chromosome pair 15, NOS (en) View
28034013	en	Synonym (core metadata concept)	Anomaly of chromosome pair 15, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (710731028) - 16569009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3365699021) - 16569009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4987207029) - 16569009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4987209026) - 16569009 -> 71678009 (363698007) View
363698007 \|Finding site (attribute)\|	71678009 \|Chromosome pair 15 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010372025) - 16569009 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3366575024) - 16569009 -> 71678009 (363698007) View
363698007 \|Finding site (attribute)\|	71678009 \|Chromosome pair 15 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (710733025) - 16569009 -> 71678009 (363698007) View
363698007 \|Finding site (attribute)\|	71678009 \|Chromosome pair 15 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2591440024) - 16569009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (710732024) - 16569009 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (173052020) - 16569009 -> 95462004 (116680003) View
116680003 \|Is a (attribute)\|	95462004 \|Anomaly of sex chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (710734020) - 16569009 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1669630022) - 16569009 -> 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
1010613009 View
1010613009	Tetrasomy 15q (disorder)	Tetrasomy 15q	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1003402006 View
1003402006	Maternal uniparental disomy of chromosome 15 (disorder)	Maternal uniparental disomy of chromosome 15	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1003871005 View
1003871005	Uniparental disomy of paternal origin of chromosome 15 (disorder)	Paternal uniparental disomy of chromosome 15	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
763405000 View
763405000	Ring chromosome 15 syndrome (disorder)	Ring chromosome 15	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
764619001 View
764619001	Mosaic trisomy 15 syndrome (disorder)	Trisomy 15 mosaicism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
723332005 View
723332005	Isodicentric chromosome 15 syndrome (disorder)	Inverted duplication 15	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
726354002 View
726354002	Partial trisomy of chromosome 15 (disorder)	Duplication of chromosome 15	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726386007 View
726386007	Deletion of part of chromosome 15 (disorder)	Deletion of part of chromosome 15	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 (c3233441-1d71-5f1d-89cc-d0272a84eed3) 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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