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

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