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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
2061000052116 partiell trisomi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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
Distal trisomy 3p (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 9q Associated morphology True Partial trisomy Inferred relationship Some 1
Distal 22q11.2 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
7p22.1 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Xq12-q13.3 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Non-distal trisomy 13q Associated morphology True Partial trisomy Inferred relationship Some 1
Non-distal trisomy 9q Associated morphology True Partial trisomy Inferred relationship Some 1
17q12 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 5q syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
22q11.2 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
8p23.1 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal 16p11.2 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 17q Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 19q Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 1p36 Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 1p36 Associated morphology True Partial trisomy Inferred relationship Some 2
2q23.1 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
15q13.3 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Trisomy 1q syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Trisomy 1q syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Trisomy 8p syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Trisomy 8p syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Partial trisomy of short arm of chromosome 8 Associated morphology True Partial trisomy Inferred relationship Some 2
Partial trisomy of short arm of chromosome 8 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of long arm of chromosome 1 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of long arm of chromosome 1 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
8p23.1 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
X-bunden akrogigantism Associated morphology False Partial trisomy Inferred relationship Some 2
Non-distal trisomy 10q Associated morphology True Partial trisomy Inferred relationship Some 1
5p13 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
5p13 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
11p15.4 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
11p15.4 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
1q21.1 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
1q21.1 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
14q11.2 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
14q11.2 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
15q overgrowth syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
Trisomy 17p (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal limb deficiency with micrognathia syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 3
15q overgrowth syndrome Associated morphology True Partial trisomy Inferred relationship Some 4
Distal 7q11.23 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Distal 7q11.23 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal Xq28 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
3q26 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
3q26 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 18q Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 18q Associated morphology True Partial trisomy Inferred relationship Some 1
Xp22.13p22.2 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
Xp22.13p22.2 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
10q22.3q23.3 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
10q22.3q23.3 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication Associated morphology True Partial trisomy Inferred relationship Some 1
X-linked acrogigantism due to Xq26 microduplication Associated morphology True Partial trisomy Inferred relationship Some 1
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
11p15 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
17q23.1-q23.2 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
17q23.1-q23.2 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
17q24-qter duplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
17q24-qter duplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
22q11.2 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 12q (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 12q (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Distal duplication of chromosome 14 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal duplication of chromosome 15 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal duplication of chromosome 13 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 1p Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 1p Associated morphology True Partial trisomy Inferred relationship Some 2
Distal duplication of chromosome 21 Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 1q (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 1q (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 7q (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 7q (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 8p (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 8p (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 9p (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 9p (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 3q (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 3q (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Medial duplication of long arm of chromosome 2 Associated morphology True Partial trisomy Inferred relationship Some 1
Medial duplication of long arm of chromosome 4 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Medial duplication of chromosome 14 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Medial duplication of long arm of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Some 1
Medial duplication of chromosome 13 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Medial duplication of long arm of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Some 3
Medial duplication of long arm of chromosome 7 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Medial duplication of long arm of chromosome 5 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
maternell 15q11q13-deletion Associated morphology False Partial trisomy Inferred relationship Some 2
Mosaic 1q duplication Associated morphology True Partial trisomy Inferred relationship Some 3
Medial duplication of short arm of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Some 1
Medial duplication of long arm of chromosome 9 Associated morphology True Partial trisomy Inferred relationship Some 1
Medial duplication of short arm of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 5 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 6 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 5 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 6 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 3 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 4 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 18 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 2 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 3 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2

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This concept is not in any reference sets

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