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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 Is a Trisomy true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Proximal duplication of long arm of chromosome 3 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 4 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 18 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 2 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 17 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 17 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 12 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 16 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 10 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 12 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 16 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 10 Associated morphology True Partial trisomy Inferred relationship Some 2
Mosaic 1q duplication Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of short arm of chromosome 9 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of short arm of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 11 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of short arm of chromosome 9 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of short arm of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 11 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of short arm of chromosome 8 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of short arm of chromosome 6 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of short arm of chromosome 2 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of short arm of chromosome 3 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 9 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of short arm of chromosome 8 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of short arm of chromosome 6 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of short arm of chromosome 2 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of short arm of chromosome 3 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 9 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 8 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of short arm of chromosome 1 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 8 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of short arm of chromosome 1 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of chromosome 21 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of chromosome 14 (disorder) 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 1
Proximal duplication of chromosome 15 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of chromosome 13 (disorder) 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 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
7q11.23 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Medial duplication of long arm of chromosome 7 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 3
7p partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 7p syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
7p22.1 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
22q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 22q syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Distal 22q11.2 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
21q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
21q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
21q partial distal trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
21q partial distal trisomy (disorder) 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 (disorder) 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 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
14q partial trisomy (disorder) 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 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Chromosome Xq27.3q28 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Chromosome Xq27.3q28 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
MECP2 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 3
Distal Xq28 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
Chromosome Xq28 trisomy Associated morphology False Partial trisomy Inferred relationship Some 1
Microduplication Xp11.22p11.23 syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Xq12-q13.3 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Partial duplication of long arm of chromosome 15 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial duplication of long arm of chromosome 15 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
15q13.3 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
15q11q13 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Duplication of part of short arm of chromosome 16 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal 16p11.2 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
16p13.11 microduplication syndrome (disorder) 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 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Duplication of part of long arm of chromosome 16 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 16q (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) 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 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
19p13.3 microduplication syndrome (disorder) 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

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