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66933007: Chromosome pair 14 (cell structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell structure\Subcellular structure\Chromosome structure\Chromosome\Chromosome pair 14

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

Descriptions:

Id Description Lang Type Status Case? Module

111173016 Chromosome pair 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1204229013 Chromosome pair 14 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1316711000052117 kromosompar 14 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome pair 14	Is a	Chromosome	true	Inferred relationship	Some
Chromosome pair 14	del av	Nucleus	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
14q partial distal trisomy syndrome	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
komplett trisomi 14-syndrom	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
Anomaly of chromosome pair 14	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
14q partial trisomy (disorder)	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
komplett trisomi 14-syndrom	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
14q partial trisomy (disorder)	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
14q partial distal trisomy syndrome	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
Anomaly of chromosome pair 14	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
14q partial distal trisomy syndrome	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
komplett trisomi 14-syndrom	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
Anomaly of chromosome pair 14	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
14q partial trisomy (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
14q11.2 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 14	Inferred relationship	Some	4
14q11.2 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 14	Inferred relationship	Some	3
14q12 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	2
14q12 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 14	Inferred relationship	Some	3
Deletion of part of chromosome 14 (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
Partial trisomy of chromosome 14 (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
Mosaic trisomy 14 syndrome (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	2
Mosaic trisomy 14 syndrome (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
Distal monosomy 14q syndrome (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
14q11.2 microduplication syndrome (disorder)	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
14q22q23 microdeletion syndrome	Finding site	False	Chromosome pair 14	Inferred relationship	Some	4
14q11.2 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	2
14q11.2 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
14q24.1q24.3 microdeletion syndrome	Finding site	True	Chromosome pair 14	Inferred relationship	Some	3
14q24.1q24.3 microdeletion syndrome	Finding site	False	Chromosome pair 14	Inferred relationship	Some	1
14q32 deletion syndrome	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
14q32 deletion syndrome	Finding site	False	Chromosome pair 14	Inferred relationship	Some	2
Distal deletion of chromosome 14 (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
Distal duplication of chromosome 14 (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
Paternal 14q32.2 microdeletion (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
Medial duplication of chromosome 14 (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 14	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
Medial deletion of chromosome 14	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 14	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
Proximal deletion of chromosome 14	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
Proximal duplication of chromosome 14 (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
Ring chromosome 14 syndrome (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	1
14q partial distal trisomy syndrome	Finding site	True	Chromosome pair 14	Inferred relationship	Some	2
14q11.2 microduplication syndrome (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	2
Partial deletion of long arm of chromosome 14 (disorder)	Finding site	True	Chromosome pair 14	Inferred relationship	Some	2
14q22q23 microdeletion syndrome	Finding site	True	Chromosome pair 14	Inferred relationship	Some	2
14q partial proximal trisomy syndrome	Finding site	True	Chromosome pair 14	Inferred relationship	Some	2

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
111173016	Chromosome pair 14	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1204229013	Chromosome pair 14 (cell structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1316711000052117	kromosompar 14	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)