@prefix dce: <http://purl.org/dc/elements/1.1/>. @prefix owl: <http://www.w3.org/2002/07/owl#>. @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#>. @prefix skos: <http://www.w3.org/2004/02/skos/core#>. @prefix clisko: <http://www.agfa.com/w3c/2009/clinicalSKOSSchemes#>. @prefix event: <http://eulersharp.sourceforge.net/2003/03swap/event#>. @prefix malneo: <http://www.agfa.com/w3c/2009/malignantNeoplasm#>. @prefix clineva: <http://www.agfa.com/w3c/2009/clinicalEvaluation#>. @prefix hurifa: <http://www.agfa.com/w3c/2009/humanRiskFactors#>. @prefix humdis: <http://www.agfa.com/w3c/2009/humanDisorder#>. @prefix genomab: <http://eulersharp.sourceforge.net/2003/03swap/genomeAbnormality#>. @prefix chromab: <http://www.agfa.com/w3c/2009/chromosomeAbnormalities#>. <http://www.agfa.com/w3c/2009/chromosomeAbnormalities> a owl:Ontology; dce:title """Chromosome Abnormalities"""@en; dce:creator """Hans Cools, MD; Agfa Healthcare/Belgium"""@en; dce:contributor """Julia von Tresckow, MD; Susanne Hagist, MD; University Clinic of Cologne"""@en; dce:publisher """Agfa Healthcare/Belgium"""@en; dce:description """Formal description of human chromosome abnormalities."""@en; dce:format """OWL Full"""@en; rdfs:comment """Copyright (c) 2009 Agfa-Gevaert Group All Rights Reserved. THIS IS UNPUBLISHED PROPRIETARY SOURCE CODE OF Agfa-Gevaert Group The copyright notice above does not evidence any actual or intended publication of such source code."""@en. # # CLASSES # chromab:Del17p a rdfs:Class; rdfs:isDefinedBy <http://www.agfa.com/w3c/2009/chromosomeAbnormalities#>; rdfs:label """del(17p)"""@en; skos:definition """Deletion of short arm of chromosome 17"""@en; rdfs:subClassOf genomab:ChromosomeDeletion, hurifa:CytogeneticRiskFactor. chromab:Del17p131 a rdfs:Class; rdfs:isDefinedBy <http://www.agfa.com/w3c/2009/chromosomeAbnormalities#>; rdfs:label """del(17p13.1)"""@en; skos:definition """Deletion of short arm of chromosome 17 location 13.1."""@en; rdfs:comment """Chromosomal location of tumor suppressor gene P53; associated with chronic lymphocytic leukemia rapidly developing symptoms and requiring treatment."""@en; rdfs:subClassOf chromab:Del17p. chromab:Del11q a rdfs:Class; rdfs:isDefinedBy <http://www.agfa.com/w3c/2009/chromosomeAbnormalities#>; rdfs:label """del(11q)"""@en; skos:definition """Deletion of long arm of chromosome 11"""@en; rdfs:subClassOf genomab:ChromosomeDeletion, hurifa:CytogeneticRiskFactor. chromab:Del13q14 a rdfs:Class; rdfs:isDefinedBy <http://www.agfa.com/w3c/2009/chromosomeAbnormalities#>; rdfs:label """del(13q14)"""@en; skos:definition """Deletion of long arm of chromosome 13 location 14"""@en; rdfs:subClassOf genomab:ChromosomeDeletion, hurifa:CytogeneticRiskFactor. chromab:Tri12 a rdfs:Class; rdfs:isDefinedBy <http://www.agfa.com/w3c/2009/chromosomeAbnormalities#>; rdfs:label """trisomy 12"""@en; skos:definition """Trisomy of chromosome 12."""@en; rdfs:subClassOf genomab:Aneuploidy, hurifa:CytogeneticRiskFactor. chromab:ComplexKaryotype a rdfs:Class; rdfs:isDefinedBy <http://www.agfa.com/w3c/2009/chromosomeAbnormalities#>; rdfs:label """complex karyotype"""@en; skos:definition """Equal or more than 3 chromosomal aberrations, including at least one structural."""@en; rdfs:subClassOf genomab:ChromosomeAbnormality, hurifa:CytogeneticRiskFactor. # FISH: Fluorescent in-situ hybridization # molecular cytogenetic technique that can detect chromosomal abnormalities that cannot be appreciated by standard chromosomal analysis (e.g. microdeletion syndromes) # or when mitotic cells are not available for chromosomal analysis (e.g. X/Y FISH for cross-sex transplants)