ARCHETYPE Genome (openEHR-EHR-EVALUATION.genome.v0)

ARCHETYPE IDopenEHR-EHR-EVALUATION.genome.v0
ConceptGenome
DescriptionPersistent overview of patient genome, partial or full
UseUse to record a persistent partial or complete genome for the individual.
MisuseNot to be used for individual genetic variants or specific genetic lab tests. Not to be used for chromosomal changes.
PurposeTo keep a collection of the most accurate description of the individual's genetic variants. The collection is used for decision support, e.g. pharmacogenomics, diagnostic and prognostic reasoning and
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: 2016-02-15
Other Details LanguageForfatternavn: Hallvard Lærum
Organisasjon: Oslo Universitetssykehus HF
E-post: hallar@ous-hf.no
Opprinnelig skrevet dato: 2016-02-15
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, current_contact=Hallvard Lærum, Oslo Universitetssykehus HF, hallar@ous-hf.no, original_namespace=no.nasjonalikt, original_publisher=Nasjonal IKT, custodian_namespace=no.nasjonalikt, MD5-CAM-1.0.1=7CB108AEBE653D5CD905FD5AEBED43A4, build_uid=a1a46087-3565-4b52-9399-954a13486855, revision=0.0.1-alpha}
Keywordsgenome, gene, genetic variants, pharmacogenomics, alleles
Lifecyclein_development
UID8664405a-8848-4d34-a690-8ad68ee31d44
Language usednb
Citeable Identifier1078.36.1325
Revision Number0.0.1-alpha
AllArchetype [runtimeNameConstraintForConceptName=null, archetypeConceptBinding=null, archetypeConceptDescription=Persistent overview of patient genome, partial or full, 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, Dpt. of medical genetics, Oslo University Hospital, Norway
John Tore Valand, Helse Bergen HF, Norway (Nasjonal IKT redaktør), originalLanguage=nb, translators=English: Hallvard Lærum, Oslo University Hospital HF, hallaeru@online.no
, subjectOfData=ubegrenset, archetypeTranslationTree=null, topLevelToAshis={context=[], state=[], capabilities=[], contacts=[], details=[], identities=[], description=[], events=[], source=[], protocol=[], items=[], credentials=[], ism_transition=[], data=[ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003], code=at0003, itemType=CLUSTER, level=2, text=Most accurate variants, description=An updated collection of the most accurate representation of each gene.The observations are selected based on how accurately the sequencing method describes the actual sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Valgfritt, gjentagende, cardinalityFormal=1..*, cardinalityText=, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0009], code=at0009, itemType=SLOT, level=3, text=Genetic variant, description=The genetic variant as described by the best genetic lab test for this gene, comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Valgfritt, gjentagende, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=Inkluder:
openEHR-EHR-CLUSTER.genetic_variant.v1
Ekskluder:
Alle ikke eksplisitt inkluderte arketyper, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0004], code=at0004, itemType=ELEMENT, level=3, text=Source, description=Where the variant was analyzed, e.g. imported from commercial laboratory, performed at local laboratory, performed with home-based kit., 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=/data[at0001]/items[at0006], code=at0006, itemType=ELEMENT, level=2, text=GenomeComplete?, description=Whether or not the list of variants containts the full genome., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Valgfritt, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_BOOLEAN, bindings=null, values=, extendedValues=null]], relationships=[], other_participations=[], target=[], content=[], provider=[], activities=[]}, topLevelItems={data=ResourceSimplifiedHierarchyItem [path=ROOT_/data[at0001], code=at0001, itemType=ITEM_TREE, level=0, text=null, description=null, comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Obligatorisk, cardinalityFormal=1..1, cardinalityText=obligatorisk, subCardinalityFormal=0..*, subCardinalityText=Minimum 0 oppføringer, dataType=ITEM_TREE, bindings=null, values=null, extendedValues=null]}, addHierarchyItemsTo=data, currentHierarchyItemsForAdding=[ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003], code=at0003, itemType=CLUSTER, level=2, text=Most accurate variants, description=An updated collection of the most accurate representation of each gene.The observations are selected based on how accurately the sequencing method describes the actual sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Valgfritt, gjentagende, cardinalityFormal=1..*, cardinalityText=, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0009], code=at0009, itemType=SLOT, level=3, text=Genetic variant, description=The genetic variant as described by the best genetic lab test for this gene, comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Valgfritt, gjentagende, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=Inkluder:
openEHR-EHR-CLUSTER.genetic_variant.v1
Ekskluder:
Alle ikke eksplisitt inkluderte arketyper, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0004], code=at0004, itemType=ELEMENT, level=3, text=Source, description=Where the variant was analyzed, e.g. imported from commercial laboratory, performed at local laboratory, performed with home-based kit., 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=/data[at0001]/items[at0006], code=at0006, itemType=ELEMENT, level=2, text=GenomeComplete?, description=Whether or not the list of variants containts the full genome., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Valgfritt, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_BOOLEAN, bindings=null, values=, extendedValues=null]], minIndents={}, termBindingRetrievalErrorMessage=null]