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67285006: Deletion of short 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
111800015 Deletion of short arm en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
806992019 Deletion of short 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 short arm est un(e) (attribut) Alteration of chromosome structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Wolf Hirschhorn syndrome (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 1
20p13 microdeletion syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 1
Distal monosomy 7p syndrome (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 3
Potocki-Shaffer syndrome morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
11p partial monosomy syndrome (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
Chromosome 11p13 deletion syndrome (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
11p15 deletion syndrome morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
20p12.2 deletion syndrome (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
3p25.3 deletion syndrome (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
7p12-p14 deletion syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
7p21.1 deletion syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
9p24.3 deletion syndrome (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
7p partial monosomy (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
Distal deletion of short arm of chromosome 1 (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
Distal deletion of short arm of chromosome 3 (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
Distal deletion of short arm of chromosome 8 (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
Medial deletion of short arm of chromosome 1 morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
Medial deletion of short arm of chromosome 1 morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 3
Deletion of short arm of chromosome 18 morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
Proximal deletion of short arm of chromosome 8 (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
Proximal deletion of short arm of chromosome 6 morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
Proximal deletion of short arm of chromosome 1 morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 3
Proximal deletion of short arm of chromosome 3 morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 3
Proximal deletion of short arm of chromosome 9 morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
Proximal deletion of short arm of chromosome 7 (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some
9p partial monosomy syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some
10p partial monosomy syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some
Potocki-Shaffer syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 3
10p partial monosomy syndrome morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
12p partial monosomy syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
1p partial monosomy morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
3p partial monosomy syndrome (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 1
4p partial monosomy syndrome morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
9p partial monosomy syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 1
7p partial monosomy (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 1
18p partial monosomy syndrome (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 1
5p partial monosomy syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 1
8p partial monosomy syndrome morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
9q22.3 deletion syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 3
8p23.1 microdeletion syndrome (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
syndrome de microdélétion 16p11.2 proximale morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 1
Wolf Hirschhorn syndrome (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 3
Distal monosomy 6p (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
19p13.12 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 3
syndrome de microdélétion 1p21.3 morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 3
6p22 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
Chromosome Xp11.3 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
20p12.3 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 3
2p15p16.1 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
2p21 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
16p11.2p12.2 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 3
syndrome de microdélétion 16p13.11 morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 3
8p11.2 deletion syndrome (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
monosomie distale 10p morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 3
Hypoparathyroidism, deafness, renal disease syndrome (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 8
Chromosome Xp22.3 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
Deletion of part of short arm of chromosome 2 (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 3
Deletion of part of short arm of chromosome 6 (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
Deletion of part of short arm of chromosome 16 (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 3
Deletion of short arm of chromosome 19 (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
Deletion of part of short arm of chromosome 17 (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 3
Deletion of part of short arm of chromosome 20 (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 3
Distal 16p11.2 microdeletion syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 3
Atypical Norrie disease due to monosomy Xp11.3 (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
4p partial monosomy syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some
syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16 morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 6
Chromosome 1p36 deletion syndrome (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
8p partial monosomy syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some
7p partial monosomy (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some
12p partial monosomy syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some
1p partial monosomy morphologie associée (attribut) False Deletion of short arm Inferred relationship Some
11p partial monosomy syndrome (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 3
18p partial monosomy syndrome (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some
10p partial monosomy syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
9p partial monosomy syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
5p partial monosomy syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some
Distal monosomy 3p syndrome morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
19p13.13 microdeletion syndrome (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
9p13 microdeletion syndrome (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 1
Distal monosomy 9p syndrome (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 1
Distal 17p13.3 microdeletion syndrome morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 1
1p31p32 microdeletion syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 2
16p12.2 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 1
Distal monosomy 19p13.3 (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 2
19p13.12 microdeletion syndrome (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 1
Distal 17p13.1 microdeletion syndrome (disorder) morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 1
2p21 microdeletion syndrome without cystinuria (disorder) morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 1
2p13.2 microdeletion syndrome morphologie associée (attribut) False Deletion of short arm Inferred relationship Some 1
Monosomy 9p morphologie associée (attribut) True Deletion of short arm Inferred relationship Some 1

This concept is not in any reference sets

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