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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
4q21 microdeletion syndrome (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
5q14.3 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
6q25 microdeletion syndrome (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
6q terminal deletion syndrome (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
microdélétion 8q22.1 morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 4
1q21.1 microdeletion morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
1q44 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
16q24.3 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 5
Deletion 5q35 morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
Monosomy 9q22.3 syndrome (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 3
8q13 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 4
X-linked diffuse leiomyomatosis with Alport syndrome (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 4
3q13 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Distal monosomy 17q (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
Deletion of part of long arm of chromosome 5 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Deletion of part of long arm of chromosome 20 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
Deletion of part of long arm of chromosome 3 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Deletion of long arm of chromosome 19 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Deletion of part of long arm of chromosome 6 (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Deletion of part of long arm of chromosome 2 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
Deletion of part of long arm of chromosome 12 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
20q13.33 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
17q12 microdeletion syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
Deletion of part of long arm of chromosome 17 (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
10q partial monosomy (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some
12q15q21.1 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
Distal 22q11.2 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
22q partial monosomy (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some
8q partial monosomy syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 1
1q partial monosomy morphologie associée (attribut) False Deletion of long arm Inferred relationship Some
16q partial monosomy syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some
4q partial monosomy syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some
18q partial monosomy syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some
11q partial monosomy syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some
9q partial monosomy syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some
15q partial monosomy syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some
Williams syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 4
7q partial monosomy morphologie associée (attribut) False Deletion of long arm Inferred relationship Some
2q33.1 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Distal monosomy 13q syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
Proximal chromosome 18q deletion syndrome (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Distal monosomy 7q36 syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 1
Distal chromosome 18q deletion syndrome morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 2
Monosomy 13q34 syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 1
22q11.2 deletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
5q31.3 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 1
Distal monosomy 14q syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
10q22.3q23.3 microdeletion syndrome morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 1
19q13.11 microdeletion syndrome (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 1
Non-distal monosomy 10q (disorder) morphologie associée (attribut) True Deletion of long arm Inferred relationship Some 1
Monosomy 13q14 syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 1
3q27.3 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 3
16q24.1 microdeletion syndrome (disorder) morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 2
9q22.3 deletion syndrome morphologie associée (attribut) False Deletion of long arm Inferred relationship Some 1

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