ARCHETYPE Genetic variant (openEHR-EHR-CLUSTER.genetic_variant_no.v0)

ARCHETYPE IDopenEHR-EHR-CLUSTER.genetic_variant_no.v0
ConceptGenetic variant
DescriptionDescription of the content of a certain gene. The gene consists of two alleles, which are described separately.
UseRegister genetic variants as a basis for genetic counselling, pharmacogenetics, and risk factor and prognosis assessment.
MisuseNot to be used for description of chromosomes or chromosomal abnormalities.
PurposeTo accurately describe a genetic variant in humans as found in various genetic investigations. The archetype is used as a basis for documentation of the patient genome, and to guide decision support.
ReferencesGinsbury G & Huntington FW: Essentials of genomic and personalized medicine. Academic press 2010 ISBN 978-0-12-374934-5
Copyright© Nasjonal IKT HF
AuthorsForfatternavn: Hallvard Lærum
Organisasjon: Oslo Universitetssykehus HF
E-post: hallar@ous-hf.no
Opprinnelig skrevet dato: 2016-02-10
Other Details LanguageForfatternavn: Hallvard Lærum
Organisasjon: Oslo Universitetssykehus HF
E-post: hallar@ous-hf.no
Opprinnelig skrevet dato: 2016-02-10
OtherDetails Language Independent{licence=This work is licensed under the Creative Commons Attribution-ShareAlike 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/4.0/., custodian_organisation=Nasjonal IKT, references=Ginsbury G & Huntington FW: Essentials of genomic and personalized medicine. Academic press 2010 ISBN 978-0-12-374934-5, original_namespace=no.nasjonalikt, original_publisher=Nasjonal IKT, custodian_namespace=no.nasjonalikt, MD5-CAM-1.0.1=8D7872BB986F56EB04AE8E0A11B383D7, build_uid=55db533c-dcc4-44bb-a31e-553884766812, revision=0.0.1-alpha}
Keywordsmutation, genetic, gene, variant
Lifecyclein_development
UIDa95f1a81-5fe2-4c56-83b3-7f54de2794f2
Language useden
Citeable Identifier1078.36.1323
Revision Number0.0.1-alpha
AllArchetype [runtimeNameConstraintForConceptName=null, archetypeConceptBinding=null, archetypeConceptDescription=Description of the content of a certain gene. The gene consists of two alleles, which are described separately., archetypeConceptComment=null, otherContributors=Silje Ljosland Bakke, Nasjonal IKT HF, Norway (Nasjonal IKT redaktør)
Hallvard Lærum, Oslo Universitetssykehus HF, Norway (Nasjonal IKT redaktør)
Lars Retterstøl, MD PhD, Department of medical genetics, Oslo University Hospital HF, Norway
John Tore Valand, Helse Bergen HF, Norway (Nasjonal IKT redaktør), originalLanguage=en, translators=, subjectOfData=ubegrenset, archetypeTranslationTree=null, topLevelToAshis={events=[], items=[ResourceSimplifiedHierarchyItem [path=/items[at0001], code=at0001, itemType=ELEMENT, level=1, text=Gene name, description=The name of the gene described, as defined by the HUGO gene nomenclature committee (HGNC)., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Valgfritt, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/items[at0012], code=at0012, itemType=ELEMENT, level=1, text=DNA origin, description=The cellular origin of the gene., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Valgfritt, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=
  • Nucleus [The gene is located in the nucleus.]
  • Mitochondrium [The gene is located in the mitochondrium.]
  • Other [Other origins of the gene.]
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/items[at0022], code=at0022, itemType=ELEMENT, level=1, text=Somatic or germline origin, description=Main origin of mutation., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Valgfritt, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=
  • Somatic mutation [Mutation acquired after conception.]
  • Germline mutations [Mutations inherited from germcells.]
  • No mutation detected [No mutation detected in gene.]
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/items[at0002], code=at0002, itemType=ELEMENT, level=1, text=Chromosome number, description=The chromosome number on which the gene is found., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Valgfritt, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/items[at0005], code=at0005, itemType=ELEMENT, level=1, text=Normal or pathologic, description=Whether or not the specific variant causes disease., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Valgfritt, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=
  • Normal [The variant does not cause disease.]
  • Probably normal [The gene probably does not cause disease.]
  • Unknown [Not able to decided whether or not the variant causes disease.]
  • Probably pathologic [The gene probably causes disease.]
  • Pathologic [The gene causes disease.]
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  • Nucleus [The gene is located in the nucleus.]
  • Mitochondrium [The gene is located in the mitochondrium.]
  • Other [Other origins of the gene.]
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  • Somatic mutation [Mutation acquired after conception.]
  • Germline mutations [Mutations inherited from germcells.]
  • No mutation detected [No mutation detected in gene.]
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  • Normal [The variant does not cause disease.]
  • Probably normal [The gene probably does not cause disease.]
  • Unknown [Not able to decided whether or not the variant causes disease.]
  • Probably pathologic [The gene probably causes disease.]
  • Pathologic [The gene causes disease.]
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openEHR-EHR-CLUSTER.allele_details.v0 og spesialiseringer
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