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17897000: chromosomenpaar 12 (celstructuur)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell\Subcellular structure\Chromosome structure\Chromosome\Chromosome pair 12

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome pair 12	Is a	Chromosome	true	Inferred relationship	Some
Chromosome pair 12	Part of	Nucleus	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
12p partial trisomy syndrome	Finding site	False	Chromosome pair 12	Inferred relationship	Some	1
syndroom van partiële monosomie 12p	Finding site	False	Chromosome pair 12	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Finding site	False	Chromosome pair 12	Inferred relationship	Some	1
12q partial trisomy syndrome	Finding site	False	Chromosome pair 12	Inferred relationship	Some	1
Tetrasomy 12p syndrome (disorder)	Finding site	False	Chromosome pair 12	Inferred relationship	Some	1
12p partial trisomy syndrome	Finding site	False	Chromosome pair 12	Inferred relationship	Some	1
Tetrasomy 12p syndrome (disorder)	Finding site	False	Chromosome pair 12	Inferred relationship	Some	1
12q partial trisomy syndrome	Finding site	False	Chromosome pair 12	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Finding site	False	Chromosome pair 12	Inferred relationship	Some	1
syndroom van partiële monosomie 12p	Finding site	False	Chromosome pair 12	Inferred relationship	Some	1
12p partial trisomy syndrome	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
12q partial trisomy syndrome	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
Tetrasomy 12p syndrome (disorder)	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
syndroom van partiële monosomie 12p	Finding site	False	Chromosome pair 12	Inferred relationship	Some	1
syndroom van partiële monosomie 12p	Finding site	False	Chromosome pair 12	Inferred relationship	Some	2
Ulnar mammary syndrome	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
12q14 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 12	Inferred relationship	Some	4
12q14 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 12	Inferred relationship	Some	5
Deletion of part of chromosome 12 (disorder)	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
Deletion of part of long arm of chromosome 12 (disorder)	Finding site	True	Chromosome pair 12	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 12 (disorder)	Finding site	False	Chromosome pair 12	Inferred relationship	Some	3
Partial trisomy of chromosome 12	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
12q15q21.1 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 12	Inferred relationship	Some	2
12q15q21.1 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 12	Inferred relationship	Some	3
Mosaic trisomy 12 syndrome	Finding site	True	Chromosome pair 12	Inferred relationship	Some	2
Trisomy 12	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
Mosaic trisomy 12 syndrome	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
Ring chromosome 12 syndrome	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
Distal monosomy 12p	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
12q14 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 12	Inferred relationship	Some	2
12q14 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
12p12.1 microdeletion syndrome	Finding site	True	Chromosome pair 12	Inferred relationship	Some	2
Non-distal monosomy 12q	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
Non-distal monosomy 12q	Finding site	False	Chromosome pair 12	Inferred relationship	Some	2
12q15 deletion syndrome (disorder)	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
12q15 deletion syndrome (disorder)	Finding site	False	Chromosome pair 12	Inferred relationship	Some	2
12q24.31-q24.32 deletion syndrome	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
12q24.31-q24.32 deletion syndrome	Finding site	False	Chromosome pair 12	Inferred relationship	Some	2
12q15q21.1 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
Distal deletion of long arm of chromosome 12 (disorder)	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
Distal deletion of long arm of chromosome 12 (disorder)	Finding site	False	Chromosome pair 12	Inferred relationship	Some	2
Distal trisomy 12q (disorder)	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
Proximal duplication of long arm of chromosome 12	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 12 (disorder)	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 12 (disorder)	Finding site	False	Chromosome pair 12	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 12 (disorder)	Finding site	True	Chromosome pair 12	Inferred relationship	Some	1
12p12.1 microdeletion syndrome	Finding site	False	Chromosome pair 12	Inferred relationship	Some	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
30242013	Chromosome pair 12	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1186702018	Chromosome pair 12 (cell structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
777871000146112	chromosomenpaar 12	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
886171000146113	chromosomenpaar 12 (celstructuur)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)