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Terminology chevron_right Concepts chevron_right 73035005

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Component

73035005

The component that hold information about this concept.

Fully Specified Name (FSN)

10q partial trisomy syndrome (disorder)

Shortest Term

10q partial trisomy syndrome

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

10q partial trisomy syndrome (disorder)

SCTID: 73035005, Primitive, Active

73035005|10q partial trisomy syndrome (disorder)|

en 10q partial trisomy syndrome
en 10q partial trisomy syndrome (disorder)

Expression

73035005 |10q partial trisomy syndrome (disorder)|
 <<< 726349006 |Partial trisomy of chromosome 10 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 56332006 |Chromosome pair 10 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
121311016 - 10q partial trisomy syndrome (en) View
121311016	en	Synonym (core metadata concept)	10q partial trisomy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
813379011 - 10q partial trisomy syndrome (disorder) (en) View
813379011	en	Fully specified name (core metadata concept)	10q partial trisomy syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (266871029) - 73035005 -> 2893009 (116680003) View
116680003 \|Is a (attribute)\|	2893009 \|Anomaly of chromosome pair 10 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (266872020) - 73035005 -> 270521004 (116680003) View
116680003 \|Is a (attribute)\|	270521004 \|Trisomy and partial trisomy of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6992967029) - 73035005 -> 726349006 (116680003) View
116680003 \|Is a (attribute)\|	726349006 \|Partial trisomy of chromosome 10 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (855946026) - 73035005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (855948025) - 73035005 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3446424029) - 73035005 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4993479027) - 73035005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4993481025) - 73035005 -> 56332006 (363698007) View
363698007 \|Finding site (attribute)\|	56332006 \|Chromosome pair 10 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5025092029) - 73035005 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3346191022) - 73035005 -> 56332006 (363698007) View
363698007 \|Finding site (attribute)\|	56332006 \|Chromosome pair 10 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (855949022) - 73035005 -> 56332006 (363698007) View
363698007 \|Finding site (attribute)\|	56332006 \|Chromosome pair 10 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2600847024) - 73035005 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (855950022) - 73035005 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (855947024) - 73035005 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
726349006 View
726349006	Partial trisomy of chromosome 10 (disorder)	Duplication of chromosome 10	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1003880005 View
1003880005	Proximal duplication of long arm of chromosome 10 (disorder)	Proximal duplication of long arm of chromosome 10	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782669004 View
782669004	10q22.3q23.3 microduplication syndrome (disorder)	Trisomy 10q22.3q23.3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770666006 View
770666006	Non-distal trisomy 10q (disorder)	Non-distal trisomy 10q	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718689000 View
718689000	Distal trisomy 10q (disorder)	Distal trisomy 10q	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722429003 View
722429003	Distal limb deficiency with micrognathia syndrome (disorder)	Buttiens fryns 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 (a101088d-645f-5f1f-97b5-a6ae6f04460e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q92.8	TRUE	ALWAYS Q92.8	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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