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133849008: Partial trisomy (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

0 descendants.

Expanded Value Set

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

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