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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
Proximal duplication of long arm of chromosome 1 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Proximal duplication of chromosome 15 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Proximal duplication of chromosome 13 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 1 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
7q partial trisomy (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
7q11.23 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Medial duplication of long arm of chromosome 7 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 3
7p partial trisomy (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Distal trisomy 7p syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
syndrome de microduplication 7p22.1 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
22q partial trisomy (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Distal trisomy 22q syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Distal 22q11.2 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
21q partial trisomy (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
21q partial trisomy (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
21q partial distal trisomy (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
21q partial distal trisomy (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Partial trisomy 21 in Down's syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Cat eye syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
20q partial trisomy (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
20p partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
20q11.2 microduplication syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Distal trisomy 20q syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
14q partial trisomy (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
14q partial proximal trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
14q partial distal trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
5p partial trisomy morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Medial duplication of long arm of chromosome 5 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Chromosome Xq27.3q28 duplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Chromosome Xq27.3q28 duplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 3
Distal Xq28 microduplication syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Chromosome Xq28 trisomy (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 2
syndrome de duplication Xq12-q13.3 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Partial duplication of long arm of chromosome 15 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Partial duplication of long arm of chromosome 15 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
15q13.3 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
15q11q13 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Duplication of part of short arm of chromosome 16 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Proximal 16p11.2 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
16p13.11 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
16p13.3 microduplication syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
syndrome de microduplication 16p11.2p12.2 morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Duplication of part of long arm of chromosome 16 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Duplication of part of long arm of chromosome 16 (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Distal trisomy 16q (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
Xq25 microduplication syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Xq25 microduplication syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
19p13.3 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
19p13.3 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
14q32 duplication syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
14q32 duplication syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 2
3p partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
6p partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
14q partial distal trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
2p partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
20q partial trisomy (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
5p partial trisomy morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
8q partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
18p partial trisomy syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
9q partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
12p partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
14q partial proximal trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
14q partial trisomy (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
9p partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
17q partial trisomy syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
13q partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
12q partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
18q partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
19q partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
16q partial trisomy syndrome morphologie associée (attribut) False Partial trisomy Inferred relationship Some 1
2q partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
17p partial trisomy syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
4p partial trisomy syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
7p partial trisomy (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
1q partial trisomy syndrome (disorder) morphologie associée (attribut) False Partial trisomy Inferred relationship Some 1
7q partial trisomy (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
3q partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
13p partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
11q partial trisomy syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
6q partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
4q partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
10p partial trisomy syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
11p partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
20p partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
8p partial trisomy syndrome morphologie associée (attribut) False Partial trisomy Inferred relationship Some 1
16p partial trisomy syndrome morphologie associée (attribut) False Partial trisomy Inferred relationship Some 1
22q partial trisomy (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
10q partial trisomy syndrome morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
15q partial trisomy syndrome morphologie associée (attribut) False Partial trisomy Inferred relationship Some 1
17q21.31 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Trisomy 17p (disorder) morphologie associée (attribut) False Partial trisomy Inferred relationship Some 2
Chromosome 3q29 duplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
Distal trisomy 10q (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
15q11q13 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
16p13.11 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1
17q11.2 microduplication syndrome (disorder) morphologie associée (attribut) True Partial trisomy Inferred relationship Some 1

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