278145009: structuur van korte arm van chromosoom (celstructuur)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell\Subcellular structure\Chromosome structure\Short arm of chromosome

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
Short arm of chromosome	Is a	Chromosome structure	true	Inferred relationship	Some
Short arm of chromosome	Part of	Cell	false	Inferred relationship	Some
Short arm of chromosome	Part of	Entire body as a whole	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deletion of short arm of chromosome 19 (disorder)	Finding site	False	Short arm of chromosome	Inferred relationship	Some	2
Partial trisomy of short arm of chromosome 1 (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Partial trisomy of short arm of chromosome 19 (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Distal trisomy 1p36	Finding site	False	Short arm of chromosome	Inferred relationship	Some	2
8p23.1 duplication syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Trisomy 8p syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Partial trisomy of short arm of chromosome 8	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Distal monosomy 19p13.3 (disorder)	Finding site	False	Short arm of chromosome	Inferred relationship	Some	2
19p13.12 microdeletion syndrome (disorder)	Finding site	False	Short arm of chromosome	Inferred relationship	Some	1
5p13 microduplication syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Distal monosomy 12p	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
11p15.4 microduplication syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
19p13.13 microdeletion syndrome (disorder)	Finding site	False	Short arm of chromosome	Inferred relationship	Some	2
12p12.1 microdeletion syndrome	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Xp22.13p22.2 duplication syndrome	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
22q11.2 duplication syndrome (disorder)	Finding site	False	Short arm of chromosome	Inferred relationship	Some	1
Distal trisomy 1p	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Distal trisomy 8p (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Distal trisomy 9p (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Medial deletion of short arm of chromosome 1	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Medial duplication of short arm of chromosome 1	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Proximal duplication of short arm of chromosome 7	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Proximal duplication of short arm of chromosome 9	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Proximal duplication of short arm of chromosome 8	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Proximal duplication of short arm of chromosome 6	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Proximal duplication of short arm of chromosome 2 (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Proximal duplication of short arm of chromosome 3	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Proximal duplication of short arm of chromosome 1 (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
7p partial trisomy (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Distal trisomy 7p syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
7p22.1 microduplication syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
1p partial monosomy	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Chromosome 1p36 deletion syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
1p31p32 microdeletion syndrome	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
1p21.3 microdeletion syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Distal deletion of short arm of chromosome 1 (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Proximal deletion of short arm of chromosome 1	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
20p13 microdeletion syndrome	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
20p12.3 microdeletion syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 20 (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
20p12.2 deletion syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
20p partial trisomy syndrome	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Distal trisomy 1p36	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
5p partial trisomy	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Partial deletion of short arm of chromosome 5	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
5p partial monosomy syndrome	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Atypical Norrie disease due to monosomy Xp11.3 (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Chromosome Xp11.3 microdeletion syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Chromosome Xp22.3 microdeletion syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Proximal 16p11.2 microdeletion syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
16p12.2 microdeletion syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
16p11.2p12.2 microdeletion syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
16p13.11 microdeletion syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Deletion of part of short arm of chromosome 16 (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Distal 16p11.2 microdeletion syndrome	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Microduplication Xp11.22p11.23 syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Distal monosomy 7p syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
7p12-p14 deletion syndrome	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
7p21.1 deletion syndrome	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Proximal deletion of short arm of chromosome 7 (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
7p partial monosomy (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Tetrasomy 18p	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Tetrasomy of short arm of chromosome 9 (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Distal monosomy 6p (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
6p22 microdeletion syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Deletion of part of short arm of chromosome 6 (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Proximal deletion of short arm of chromosome 6	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 12 (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
12p12.1 microdeletion syndrome	Finding site	False	Short arm of chromosome	Inferred relationship	Some	2
Chromosome 16p11.2 deletion syndrome	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Duplication of part of short arm of chromosome 16 (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Proximal 16p11.2 microduplication syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
16p13.11 microduplication syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
16p13.3 microduplication syndrome	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
16p11.2p12.2 microduplication syndrome	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
2p21 microdeletion syndrome without cystinuria (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
2p13.2 microdeletion syndrome	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
2p15p16.1 microdeletion syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
2p21 microdeletion syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 2 (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Tetrasomy 12p syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2
1p35.2 microdeletion syndrome	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
16p13.2 microdeletion syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
19p13.3 microduplication syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
16p12.1p12.3 triplication syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	1
Xp21 deletion syndrome (disorder)	Finding site	True	Short arm of chromosome	Inferred relationship	Some	2

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
414960017	Short arm of chromosome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1187509017	Short arm of chromosome (cell structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1329811000146112	structuur van korte arm van chromosoom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1329821000146119	structuur van korte arm van chromosoom (celstructuur)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1329831000146117	korte arm van chromosoom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1931561000146119	p-arm van chromosoom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)