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133849008: Partial trisomy (morphologic abnormality)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
213572013 Partial trisomy en Synonym Active Case insensitive SNOMED CT core
738589017 Partial trisomy (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial trisomy Is a Trisomy true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Proximal duplication of long arm of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of chromosome 15 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of chromosome 13 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Some 2
7q partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 2
7q11.23 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
Medial duplication of long arm of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Some 3
7p partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 7p syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
7p22.1 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
22q partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 22q syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
Distal 22q11.2 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
21q partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 1
21q partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 2
21q partial distal trisomy Associated morphology True Partial trisomy Inferred relationship Some 1
21q partial distal trisomy Associated morphology True Partial trisomy Inferred relationship Some 2
Partial trisomy 21 in Down's syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
Cat eye syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
20q partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 2
20p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
20q11.2 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 20q syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
14q partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 2
14q partial proximal trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
14q partial distal trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
5p partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 2
Medial duplication of long arm of chromosome 5 Associated morphology True Partial trisomy Inferred relationship Some 2
Chromosome Xq27.3q28 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
Chromosome Xq27.3q28 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 3
Distal Xq28 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
Trisomy Xq28 Associated morphology True Partial trisomy Inferred relationship Some 1
Microduplication Xp11.22p11.23 syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
Xq12-q13.3 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
Partial duplication of long arm of chromosome 15 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial duplication of long arm of chromosome 15 Associated morphology True Partial trisomy Inferred relationship Some 2
15q13.3 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
15q11q13 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
Duplication of part of short arm of chromosome 16 Associated morphology True Partial trisomy Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal 16p11.2 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
16p13.11 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
16p13.3 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
16p11.2p12.2 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
Duplication of part of long arm of chromosome 16 Associated morphology True Partial trisomy Inferred relationship Some 1
Duplication of part of long arm of chromosome 16 Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 16q Associated morphology True Partial trisomy Inferred relationship Some 2
PMP22-RAI1 contiguous gene duplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
PMP22-RAI1 contiguous gene duplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
Xq25 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
Xq25 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
19p13.3 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
19p13.3 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
14q32 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
14q32 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
3p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
6p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
14q partial distal trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
2p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
20q partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 1
5p partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 1
8q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
18p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
9q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
12p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
14q partial proximal trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
14q partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 1
9p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
17q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
13q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
12q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
18q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
19q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
16q partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Some 1
2q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
17p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
4p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
7p partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 1
1q partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Some 1
7q partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 1
3q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
13p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
11q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
6q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
4q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
10p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
11p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
20p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
8p partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Some 1
16p partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Some 1
22q partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 1
10q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
15q partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Some 1
17q21.31 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
Trisomy 17p Associated morphology False Partial trisomy Inferred relationship Some 2
3q29 microduplication Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 10q Associated morphology True Partial trisomy Inferred relationship Some 1
15q11q13 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
16p13.11 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
17q11.2 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1

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Reference Sets

Body structure foundation reference set

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