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Terminology chevron_right Concepts chevron_right 84711007

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Component

84711007

The component that hold information about this concept.

Fully Specified Name (FSN)

Anomaly of chromosome pair 4 (disorder)

Shortest Term

Anomaly of chromosome pair 4

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 4 (disorder)

SCTID: 84711007, Defined, Active

84711007|Anomaly of chromosome pair 4 (disorder)|

en Anomaly of chromosome pair 4
en Anomaly of chromosome pair 4 (disorder)

Expression

84711007 |Anomaly of chromosome pair 4 (disorder)|
 === 362984008 |Anomaly of chromosome pair (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (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
140439019 - Anomaly of chromosome pair 4 (en) View
140439019	en	Synonym (core metadata concept)	Anomaly of chromosome pair 4	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
826613015 - Anomaly of chromosome pair 4 (disorder) (en) View
826613015	en	Fully specified name (core metadata concept)	Anomaly of chromosome pair 4 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
140440017 - Anomaly of chromosome pair 4, NOS (en) View
140440017	en	Synonym (core metadata concept)	Anomaly of chromosome pair 4, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (885913026) - 84711007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3324295029) - 84711007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008829021) - 84711007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011369025) - 84711007 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011370029) - 84711007 -> 78901007 (363698007) View
363698007 \|Finding site (attribute)\|	78901007 \|Chromosome pair 4 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3324294025) - 84711007 -> 78901007 (363698007) View
363698007 \|Finding site (attribute)\|	78901007 \|Chromosome pair 4 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (885916023) - 84711007 -> 78901007 (363698007) View
363698007 \|Finding site (attribute)\|	78901007 \|Chromosome pair 4 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2602795029) - 84711007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (885915022) - 84711007 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (286060024) - 84711007 -> 95462004 (116680003) View
116680003 \|Is a (attribute)\|	95462004 \|Anomaly of sex chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (885914021) - 84711007 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2463839021) - 84711007 -> 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
766238001 View
766238001	Maternal uniparental disomy of chromosome 4 (disorder)	Maternal uniparental disomy of chromosome 4	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1003870006 View
1003870006	Uniparental disomy of paternal origin of chromosome 4 (disorder)	Paternal uniparental disomy of chromosome 4	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
764628000 View
764628000	Mosaic trisomy 4 syndrome (disorder)	Trisomy 4 mosaicism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
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
726371001 View
726371001	Deletion of part of chromosome 4 (disorder)	Deletion of part of chromosome 4	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
718226002 View
718226002	Wolf hirschhorn syndrome (disorder)	Wolf hirschhorn syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
81678004 View
81678004	Ring chromosome 4 syndrome (disorder)	Ring chromosome 4 syndrome	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 (ebcb46e7-345b-53b5-ac80-cf7031a6f5ff) 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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