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113354003: chromosomenpaar 2 (celstructuur)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell\Subcellular structure\Chromosome structure\Chromosome\Chromosome pair 2

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 2	Is a	Chromosome	true	Inferred relationship	Some
Chromosome pair 2	Part of	Nucleus	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Anomaly of chromosome pair 2	Finding site	False	Chromosome pair 2	Inferred relationship	Some	1
2p partial trisomy syndrome	Finding site	False	Chromosome pair 2	Inferred relationship	Some	1
2q partial trisomy syndrome	Finding site	False	Chromosome pair 2	Inferred relationship	Some	1
2q partial trisomy syndrome	Finding site	False	Chromosome pair 2	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Finding site	False	Chromosome pair 2	Inferred relationship	Some	1
2p partial trisomy syndrome	Finding site	False	Chromosome pair 2	Inferred relationship	Some	1
2p partial trisomy syndrome	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2q partial trisomy syndrome	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Chromosome 2q37 deletion syndrome	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2q31.1 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
2q31.1 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
2p15p16.1 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
2p15p16.1 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
2p21 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
2p21 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
2q23.1 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
2q23.1 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
2q24 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
2q24 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
2q32q33 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
2q32q33 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
Deletion of part of chromosome 2 (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Deletion of part of long arm of chromosome 2 (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 2 (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
Deletion of part of short arm of chromosome 2 (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 2 (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
Partial trisomy of chromosome 2 (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2q33.1 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
Distal trisomy 2q	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Distal trisomy 2p	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Mosaic trisomy 2 syndrome	Finding site	True	Chromosome pair 2	Inferred relationship	Some	2
2q33.1 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Mosaic trisomy 2 syndrome	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Ring chromosome 2 syndrome (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 2 (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2q23.1 microduplication syndrome (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2p21 microdeletion syndrome without cystinuria (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
2p21 microdeletion syndrome without cystinuria (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2p13.2 microdeletion syndrome	Finding site	True	Chromosome pair 2	Inferred relationship	Some	2
2p13.2 microdeletion syndrome	Finding site	False	Chromosome pair 2	Inferred relationship	Some	1
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Chromosome 2q37 deletion syndrome	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
Distal deletion of long arm of chromosome 2 (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Distal deletion of long arm of chromosome 2 (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
Medial duplication of long arm of chromosome 2	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Medial deletion of long arm of chromosome 2	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Medial deletion of long arm of chromosome 2	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
Proximal duplication of long arm of chromosome 2	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Proximal duplication of short arm of chromosome 2 (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 2	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 2	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
2q23.1 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2q24 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2q31.1 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2q32q33 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2p15p16.1 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2p21 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Overgrowth syndrome with 2q37 translocation	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
187569010	Chromosome pair 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1185726012	Chromosome pair 2 (cell structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
793131000146116	chromosomenpaar 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
886271000146119	chromosomenpaar 2 (celstructuur)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)