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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
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

0 descendants.

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 partie de Cell structure false Inferred relationship Some
Short arm of chromosome partie de 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

Reference Sets

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