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Terminology chevron_right Concepts chevron_right 74769007

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Component

74769007

The component that hold information about this concept.

Fully Specified Name (FSN)

Anomaly of chromosome pair 1 (disorder)

Shortest Term

Anomaly of chromosome pair 1

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 1 (disorder)

SCTID: 74769007, Defined, Active

74769007|Anomaly of chromosome pair 1 (disorder)|

en Anomaly of chromosome pair 1
en Anomaly of chromosome pair 1 (disorder)

Expression

74769007 |Anomaly of chromosome pair 1 (disorder)|
 === 362984008 |Anomaly of chromosome pair (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 46507000 |Chromosome pair 1 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
124173018 - Anomaly of chromosome pair 1 (en) View
124173018	en	Synonym (core metadata concept)	Anomaly of chromosome pair 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
815304016 - Anomaly of chromosome pair 1 (disorder) (en) View
815304016	en	Fully specified name (core metadata concept)	Anomaly of chromosome pair 1 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
124174012 - Anomaly of chromosome pair 1, NOS (en) View
124174012	en	Synonym (core metadata concept)	Anomaly of chromosome pair 1, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (860610020) - 74769007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3387054022) - 74769007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008975028) - 74769007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011457021) - 74769007 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011458027) - 74769007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3472925028) - 74769007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (860608023) - 74769007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2601117027) - 74769007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (860611024) - 74769007 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (269581024) - 74769007 -> 95462004 (116680003) View
116680003 \|Is a (attribute)\|	95462004 \|Anomaly of sex chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (860609026) - 74769007 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2463382026) - 74769007 -> 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
766719006 View
766719006	Paternal uniparental disomy of chromosome 1 (disorder)	Paternal uniparental disomy of chromosome 1	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
770562000 View
770562000	Maternal uniparental disomy of chromosome 1 (disorder)	Maternal uniparental disomy of chromosome 1	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
47017007 View
47017007	Ring chromosome 1 syndrome (disorder)	Ring chromosome 1 syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
829974003 View
829974003	Mosaic trisomy 1 syndrome (disorder)	Trisomy 1 mosaicism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726338000 View
726338000	Partial trisomy of chromosome 1 (disorder)	Duplication of chromosome 1	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726365007 View
726365007	Deletion of part of chromosome 1 (disorder)	Deletion of part of chromosome 1	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 (7c03cc9a-ee35-5040-8e91-b5684bd1d642) 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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