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312242007: Long 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
1187861014 Long arm of chromosome (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
455922015 Long 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
Long arm of chromosome (cell structure) est un(e) (attribut) Chromosome structure (cell structure) true Inferred relationship Some
Long arm of chromosome (cell structure) partie de corps entier (structure corporelle) false Additional relationship Some
Long arm of chromosome (cell structure) partie de Cell structure (cell structure) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 3
Distal Xq28 microduplication syndrome localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Chromosome Xq28 trisomy (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
syndrome de microdélétion 7q31 localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
syndrome de duplication Xq12-q13.3 localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
3q29 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
3q26q27 microdeletion syndrome localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
3q27.3 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 3
Deletion of part of long arm of chromosome 3 (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
3q13 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 4
Distal deletion of long arm of chromosome 3 localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 3 (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
syndrome de microdélétion 17q23.1q23.2 localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Distal monosomy 17q (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Deletion of part of long arm of chromosome 17 (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
17q12 microdeletion syndrome localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
17q11 deletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 17 (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
12q15q21.1 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
12q14 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Non-distal monosomy 12q localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
12q15 deletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
12q24.31-q24.32 deletion syndrome localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Distal deletion of long arm of chromosome 12 (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 12 (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Partial deletion of long arm of chromosome 15 (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Distal monosomy 15q localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
15q14 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
15q13.3 microdeletion localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
15q24 microdeletion localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Tetrasomy 15q (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Partial duplication of long arm of chromosome 15 (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
15q13.3 microduplication syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
15q11q13 microduplication syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
16q24.1 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
16q24.3 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Distal deletion of long arm of chromosome 16 localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 16 (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Duplication of part of long arm of chromosome 16 (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Distal trisomy 16q (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Chromosome 2q37 deletion syndrome localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
2q23.1 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
2q24 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Deletion of part of long arm of chromosome 2 (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
2q31.1 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Distal deletion of long arm of chromosome 2 (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Medial deletion of long arm of chromosome 2 localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 2 localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
2q33.1 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
2q32q33 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
13q partial monosomy syndrome localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Monosomy 13q14 syndrome localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Distal monosomy 13q syndrome localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Monosomy 13q34 syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
13q12.3 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 3
Deletion of long arm of chromosome 13 localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Xq25 microduplication syndrome localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
17q24.2 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
20q11.2 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
14q32 duplication syndrome localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Deletion of long arm of chromosome 19 (disorder) localisation d'une constatation (attribut) False Long arm of chromosome (cell structure) Inferred relationship Some 2
Partial trisomy of long arm of chromosome 5 localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 3
5q35 microduplication syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
trisomie distale 5q localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
17q12 microduplication syndrome localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Trisomy 1q syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Partial trisomy of long arm of chromosome 1 (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Distal monosomy 14q syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
19q13.11 microdeletion syndrome (disorder) localisation d'une constatation (attribut) False Long arm of chromosome (cell structure) Inferred relationship Some 1
Distal 7q11.23 microdeletion syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
Oculootodental syndrome localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 2
Distal partial deletion of long arm of chromosome 11 (disorder) localisation d'une constatation (attribut) False Long arm of chromosome (cell structure) Inferred relationship Some 2
1q21.1 microduplication syndrome (disorder) localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1
14q11.2 microduplication syndrome (disorder) localisation d'une constatation (attribut) False Long arm of chromosome (cell structure) Inferred relationship Some 2
15q11.2 microdeletion syndrome localisation d'une constatation (attribut) True Long arm of chromosome (cell structure) Inferred relationship Some 1

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