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Terminology chevron_right Concepts chevron_right 49024004

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Component

49024004

The component that hold information about this concept.

Fully Specified Name (FSN)

4p partial trisomy syndrome (disorder)

Shortest Term

Trisomy 4p 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

4p partial trisomy syndrome (disorder)

SCTID: 49024004, Primitive, Active

49024004|4p partial trisomy syndrome (disorder)|

en 4p partial trisomy syndrome
en 4p partial trisomy syndrome (disorder)
en Trisomy 4p syndrome
en Trisomy for short arm of chromosome 4

Expression

49024004 |4p partial trisomy syndrome (disorder)|
 <<< 726342002 |Partial trisomy of chromosome 4 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 78901007 |Chromosome pair 4 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
81675017 - 4p partial trisomy syndrome (en) View
81675017	en	Synonym (core metadata concept)	4p partial trisomy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
786657013 - 4p partial trisomy syndrome (disorder) (en) View
786657013	en	Fully specified name (core metadata concept)	4p partial trisomy syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
81676016 - Trisomy 4p syndrome (en) View
81676016	en	Synonym (core metadata concept)	Trisomy 4p syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
81677013 - Trisomy for short arm of chromosome 4 (en) View
81677013	en	Synonym (core metadata concept)	Trisomy for short arm of chromosome 4	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (227835021) - 49024004 -> 270521004 (116680003) View
116680003 \|Is a (attribute)\|	270521004 \|Trisomy and partial trisomy of autosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (227836022) - 49024004 -> 84711007 (116680003) View
116680003 \|Is a (attribute)\|	84711007 \|Anomaly of chromosome pair 4 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6992928024) - 49024004 -> 726342002 (116680003) View
116680003 \|Is a (attribute)\|	726342002 \|Partial trisomy of chromosome 4 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (794649022) - 49024004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (794650022) - 49024004 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3308859028) - 49024004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008355029) - 49024004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010918029) - 49024004 -> 78901007 (363698007) View
363698007 \|Finding site (attribute)\|	78901007 \|Chromosome pair 4 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5024825025) - 49024004 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3308858020) - 49024004 -> 78901007 (363698007) View
363698007 \|Finding site (attribute)\|	78901007 \|Chromosome pair 4 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (794648025) - 49024004 -> 78901007 (363698007) View
363698007 \|Finding site (attribute)\|	78901007 \|Chromosome pair 4 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2596956021) - 49024004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (794651021) - 49024004 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (794647024) - 49024004 -> 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
726342002 View
726342002	Partial trisomy of chromosome 4 (disorder)	Duplication of chromosome 4	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
726706008 View
726706008	4p16.3 microduplication syndrome (disorder)	Distal trisomy 4p	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 (8ba8b11b-0cfe-5ac3-b4a8-76e68f491300) 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)\|
ExtendedMap object (b1e1beae-1409-5e87-b362-163000e72add) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q92.2	TRUE	ALWAYS Q92.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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