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133849008: Partial trisomy (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
213572013 Partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
738589017 Partial trisomy (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
Partial trisomy est un(e) (attribut) Trisomy true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
17q11.2 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
5q35 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
8q12 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Chromosome Xq28 trisomy (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
17p13.3 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Microduplication Xp11.22p11.23 syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 6p syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal limb deficiency with micrognathia syndrome (disorder) morphologie associée (attribut) False Partial trisomy Inferred relationship Some 5
syndrome de microduplication 4p16.3 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
7q11.23 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 1 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of short arm of chromosome 1 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Partial trisomy of short arm of chromosome 1 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 3
Partial trisomy of chromosome 2 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 3 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 4 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 5 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of long arm of chromosome 5 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Partial trisomy of long arm of chromosome 5 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 3
Partial trisomy of chromosome 6 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 7 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 8 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 9 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 10 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 11 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 12 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 13 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 14 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 15 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 16 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 17 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 18 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 19 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of short arm of chromosome 19 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Partial trisomy of short arm of chromosome 19 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 3
trisomie partielle du chromosome 20 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 21 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 22 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
16p13.3 microduplication syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
syndrome de microduplication 16p11.2p12.2 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
17p11.2 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
5q35 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
20q11.2 microduplication syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 2q morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 4q (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
trisomie distale 5q morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Distal trisomy 6q morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 7p syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 8q morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
17q12 microduplication syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Distal trisomy 11q (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 13q (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 16q (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 20q syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 22q syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 2p morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 3p (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 9q morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal 22q11.2 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
syndrome de microduplication 7p22.1 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
syndrome de duplication Xq12-q13.3 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
trisomie non distale 13q morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Non-distal trisomy 9q morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
17q12 microduplication syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
trisomie distale 5q morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
22q11.2 duplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
8p23.1 duplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Proximal 16p11.2 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 17q morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 19q morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 1p36 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 1p36 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
2q23.1 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
15q13.3 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Trisomy 1q syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Trisomy 1q syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Trisomy 8p syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Trisomy 8p syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Partial trisomy of short arm of chromosome 8 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Partial trisomy of short arm of chromosome 8 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of long arm of chromosome 1 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial trisomy of long arm of chromosome 1 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
8p23.1 duplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
X-linked acrogigantism morphologie associée (attribut) False Partial trisomy Inferred relationship Some 2
Non-distal trisomy 10q morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
5p13 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
5p13 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
11p15.4 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
11p15.4 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
1q21.1 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
1q21.1 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
14q11.2 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
14q11.2 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1

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