@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 THIS IS UNPUBLISHED PROPRIETARY SOURCE CODE OF Agfa-Gevaert Group The copyright notice above does not evidence any actual or intended publication of such source code."""@en.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)