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Terminology chevron_right Concepts chevron_right 37367006

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Component

37367006

The component that hold information about this concept.

Fully Specified Name (FSN)

Anomaly of chromosome pair 7 (disorder)

Shortest Term

Anomaly of chromosome pair 7

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 7 (disorder)

SCTID: 37367006, Defined, Active

37367006|Anomaly of chromosome pair 7 (disorder)|

en Anomaly of chromosome pair 7
en Anomaly of chromosome pair 7 (disorder)

Expression

37367006 |Anomaly of chromosome pair 7 (disorder)|
 === 362984008 |Anomaly of chromosome pair (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 70488008 |Chromosome pair 7 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
62337017 - Anomaly of chromosome pair 7 (en) View
62337017	en	Synonym (core metadata concept)	Anomaly of chromosome pair 7	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
769226010 - Anomaly of chromosome pair 7 (disorder) (en) View
769226010	en	Fully specified name (core metadata concept)	Anomaly of chromosome pair 7 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
62338010 - Anomaly of chromosome pair 7, NOS (en) View
62338010	en	Synonym (core metadata concept)	Anomaly of chromosome pair 7, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (765249025) - 37367006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3405652020) - 37367006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008666028) - 37367006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011207027) - 37367006 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011208021) - 37367006 -> 70488008 (363698007) View
363698007 \|Finding site (attribute)\|	70488008 \|Chromosome pair 7 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3405651029) - 37367006 -> 70488008 (363698007) View
363698007 \|Finding site (attribute)\|	70488008 \|Chromosome pair 7 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (765247028) - 37367006 -> 70488008 (363698007) View
363698007 \|Finding site (attribute)\|	70488008 \|Chromosome pair 7 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2594991027) - 37367006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (765246021) - 37367006 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (208735023) - 37367006 -> 95462004 (116680003) View
116680003 \|Is a (attribute)\|	95462004 \|Anomaly of sex chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (765248022) - 37367006 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1673974028) - 37367006 -> 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
766721001 View
766721001	Paternal uniparental disomy of chromosome 7 (disorder)	Paternal uniparental disomy of chromosome 7	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1003395004 View
1003395004	Maternal uniparental disomy of chromosome 7 (disorder)	Maternal uniparental disomy of chromosome 7	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
205648000 View
205648000	Trisomy 7 (disorder)	Trisomy 7	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
765489006 View
765489006	Ring chromosome 7 syndrome (disorder)	Ring chromosome 7	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726377002 View
726377002	Deletion of part of chromosome 7 (disorder)	Deletion of part of chromosome 7	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 (40ec0327-a6a4-5c52-9674-1a5c2be1c791) 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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