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Terminology chevron_right Concepts chevron_right 37535007

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Component

37535007

The component that hold information about this concept.

Fully Specified Name (FSN)

Anomaly of chromosome pair 12 (disorder)

Shortest Term

Anomaly of chromosome pair 12

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 12 (disorder)

SCTID: 37535007, Defined, Active

37535007|Anomaly of chromosome pair 12 (disorder)|

en Anomaly of chromosome pair 12
en Anomaly of chromosome pair 12 (disorder)

Expression

37535007 |Anomaly of chromosome pair 12 (disorder)|
 === 362984008 |Anomaly of chromosome pair (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 17897000 |Chromosome pair 12 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
62616016 - Anomaly of chromosome pair 12 (en) View
62616016	en	Synonym (core metadata concept)	Anomaly of chromosome pair 12	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
769413013 - Anomaly of chromosome pair 12 (disorder) (en) View
769413013	en	Fully specified name (core metadata concept)	Anomaly of chromosome pair 12 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
62617013 - Anomaly of chromosome pair 12, NOS (en) View
62617013	en	Synonym (core metadata concept)	Anomaly of chromosome pair 12, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (765697021) - 37535007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3322715028) - 37535007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008158022) - 37535007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010723023) - 37535007 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010724028) - 37535007 -> 17897000 (363698007) View
363698007 \|Finding site (attribute)\|	17897000 \|Chromosome pair 12 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3453629026) - 37535007 -> 17897000 (363698007) View
363698007 \|Finding site (attribute)\|	17897000 \|Chromosome pair 12 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (765698027) - 37535007 -> 17897000 (363698007) View
363698007 \|Finding site (attribute)\|	17897000 \|Chromosome pair 12 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2595018027) - 37535007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (765699024) - 37535007 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (208999023) - 37535007 -> 95462004 (116680003) View
116680003 \|Is a (attribute)\|	95462004 \|Anomaly of sex chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (765696028) - 37535007 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2461649027) - 37535007 -> 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
770595006 View
770595006	Ring chromosome 12 syndrome (disorder)	Ring chromosome 12	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
205653005 View
205653005	Trisomy 12 (disorder)	Trisomy 12	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726382009 View
726382009	Deletion of part of chromosome 12 (disorder)	Deletion of part of chromosome 12	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
700211007 View
700211007	Ulnar mammary syndrome (disorder)	Schinzel syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
9527009 View
9527009	Tetrasomy 12p (disorder)	Tetrasomy 12p	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 (00006f25-3157-5132-b658-25708c9f1290) 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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