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64329008: Deletion of long arm (morphologic abnormality)

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
106929012 Deletion of long arm en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
803710013 Deletion of long arm (morphologic abnormality) 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
Deletion of long arm est un(e) (attribut) Alteration of chromosome structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
8q13 microdeletion syndrome (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
12q14 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
microdélétion 8q22.1 morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 1
14q11.2 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
9q31.1q31.3 microdeletion syndrome morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 3
13q12.3 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
14q24.1q24.3 microdeletion syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
3q26q27 microdeletion syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 1
Non-distal monosomy 12q morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Distal monosomy 20q morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Distal monosomy 4q morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
21q22.11q22.12 microdeletion syndrome morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Choroideremia with deafness and obesity syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 5
Chromosome 2q37 deletion syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
14q32 deletion syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
12q15 deletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
17q11 deletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
5q22.2 deletion syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
9q34 deletion syndrome (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 4
12q24.31-q24.32 deletion syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
12q15q21.1 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 16 morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 12 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 2 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 3 morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 8 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 9 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 6 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 7 morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Paternal 14q32.2 microdeletion (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 1 morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 1 morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
Medial deletion of long arm of chromosome 9 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 9 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 3
Medial deletion of long arm of chromosome 7 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Medial duplication of long arm of chromosome 2 morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Medial duplication of long arm of chromosome 4 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Medial duplication of long arm of chromosome 1 morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Medial duplication of long arm of chromosome 7 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Medial duplication of long arm of chromosome 5 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 5 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 2 morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 4 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 3
Medial duplication of long arm of chromosome 9 morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Deletion of long arm of chromosome 18 morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Deletion of long arm of chromosome 13 morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
6q16 microdeletion syndrome morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 8 morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 9 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 7 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 5 morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 6 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 4 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 3 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 18 morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 2 morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 17 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 16 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 10 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 1 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 12 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 11 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
9q33.3q34.11 microdeletion syndrome morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 3
9q21.13 microdeletion syndrome morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 4
11q22.2q22.3 microdeletion syndrome morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 3
8q24.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 4
8q partial monosomy syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some
15q13.3 microdeletion morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
1q21.1 microdeletion morphologie associée (attribut) False Deletion of long arm Inferred relationship Some
21q partial monosomy syndrome morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 1
10q partial monosomy (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
1q partial monosomy morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
18q partial monosomy syndrome (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 1
15q partial monosomy syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
8q partial monosomy syndrome morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 1
4q partial monosomy syndrome morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
22q partial monosomy (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 1
7q partial monosomy morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
16q partial monosomy syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
9q partial monosomy syndrome morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 1
13q partial monosomy syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 1
11q partial monosomy syndrome (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Distal partial deletion of long arm of chromosome 11 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
2q31.1 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
1q41q42 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
3q29 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
8q21.11 microdeletion syndrome (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Distal monosomy 10q syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
12q14 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 5
14q11.2 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 4
Deletion of long arm of chromosome 17 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
syndrome de microdélétion 17q23.1q23.2 morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
19q13.11 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
2q23.1 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
2q24 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
2q32q33 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
14q12 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
15q14 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
4q21 microdeletion syndrome (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2

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