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278145009: Short arm of chromosome (cell structure)


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
1187509017 Short arm of chromosome (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
414960017 Short arm of chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short arm of chromosome (cell structure) partie de corps entier (structure corporelle) false Additional relationship Some
Short arm of chromosome (cell structure) partie de Cell structure (cell structure) false Inferred relationship Some
Short arm of chromosome (cell structure) est un(e) (attribut) Chromosome structure (cell structure) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
11p15.4 microduplication syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
19p13.13 microdeletion syndrome (disorder) localisation d'une constatation (attribut) False Short arm of chromosome (cell structure) Inferred relationship Some 2
12p12.1 microdeletion syndrome localisation d'une constatation (attribut) False Short arm of chromosome (cell structure) Inferred relationship Some 1
Xp22.13p22.2 duplication syndrome localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
22q11.2 duplication syndrome (disorder) localisation d'une constatation (attribut) False Short arm of chromosome (cell structure) Inferred relationship Some 1
Distal trisomy 1p localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Distal trisomy 8p (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Distal trisomy 9p (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Medial deletion of short arm of chromosome 1 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Medial duplication of short arm of chromosome 1 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Proximal duplication of short arm of chromosome 7 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Proximal duplication of short arm of chromosome 9 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Proximal duplication of short arm of chromosome 8 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Proximal duplication of short arm of chromosome 6 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Proximal duplication of short arm of chromosome 2 (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Proximal duplication of short arm of chromosome 3 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Proximal duplication of short arm of chromosome 1 (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
7p partial trisomy (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Distal trisomy 7p syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
syndrome de microduplication 7p22.1 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
1p partial monosomy localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Chromosome 1p36 deletion syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
1p31p32 microdeletion syndrome localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
syndrome de microdélétion 1p21.3 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Distal deletion of short arm of chromosome 1 (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Proximal deletion of short arm of chromosome 1 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
20p13 microdeletion syndrome localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
20p12.3 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Deletion of part of short arm of chromosome 20 (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
20p12.2 deletion syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
20p partial trisomy syndrome localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Distal trisomy 1p36 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
5p partial trisomy localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Partial deletion of short arm of chromosome 5 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
5p partial monosomy syndrome localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Chromosome Xp11.3 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Chromosome Xp22.3 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
syndrome de microdélétion 16p11.2 proximale localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
16p12.2 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
16p11.2p12.2 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
syndrome de microdélétion 16p13.11 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Deletion of part of short arm of chromosome 16 (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Distal 16p11.2 microdeletion syndrome localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Microduplication Xp11.22p11.23 syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Distal monosomy 7p syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
7p12-p14 deletion syndrome localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
7p21.1 deletion syndrome localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Proximal deletion of short arm of chromosome 7 (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
7p partial monosomy (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Tetrasomy 18p localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Tetrasomy of short arm of chromosome 9 (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Distal monosomy 6p (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
6p22 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Deletion of part of short arm of chromosome 6 (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 6 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Deletion of part of short arm of chromosome 12 (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
12p12.1 microdeletion syndrome localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Proximal 16p11.2 microduplication syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
16p13.11 microduplication syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
16p13.3 microduplication syndrome localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
syndrome de microduplication 16p11.2p12.2 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
2p21 microdeletion syndrome without cystinuria (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
2p13.2 microdeletion syndrome localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
2p15p16.1 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
2p21 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Deletion of part of short arm of chromosome 2 (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
tétrasomie 12p (trouble) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
1p35.2 microdeletion syndrome localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
16p13.2 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
19p13.3 microduplication syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Deletion of short arm of chromosome 19 (disorder) localisation d'une constatation (attribut) False Short arm of chromosome (cell structure) Inferred relationship Some 2
Partial trisomy of short arm of chromosome 1 (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Partial trisomy of short arm of chromosome 19 (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Distal trisomy 1p36 localisation d'une constatation (attribut) False Short arm of chromosome (cell structure) Inferred relationship Some 2
8p23.1 duplication syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Trisomy 8p syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Partial trisomy of short arm of chromosome 8 localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2
Distal monosomy 19p13.3 (disorder) localisation d'une constatation (attribut) False Short arm of chromosome (cell structure) Inferred relationship Some 2
19p13.12 microdeletion syndrome (disorder) localisation d'une constatation (attribut) False Short arm of chromosome (cell structure) Inferred relationship Some 1
5p13 microduplication syndrome (disorder) localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 1
Distal monosomy 12p localisation d'une constatation (attribut) True Short arm of chromosome (cell structure) Inferred relationship Some 2

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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