TEMPLATE Molekularpathologischer_Bericht (5625dd43-3ecb-4422-a28e-3ff60f77502d)

TEMPLATE ID5625dd43-3ecb-4422-a28e-3ff60f77502d
ConceptMolekularpathologischer_Bericht
DescriptionWird verwendet, um Beobachtungen und Annotationen zu den im Genom gefundenen Mutationen aus einem Sequenzierungstest zu berichten.
UseZur Beschreibung der Ergebnisse einer Panelsequenzierung.
PurposeWird verwendet, um Beobachtungen und Annotationen zu den im Genom gefundenen Mutationen aus einem Sequenzierungstest zu berichten.
References
Authorsdate: 2019-10-22; name: Aurelie Tomczak; organisation: Institute of Pathology, University Hospital Heidelberg, Germany; email: au.tomczak@yahoo.com
Other Details Languagedate: 2019-10-22; name: Aurelie Tomczak; organisation: Institute of Pathology, University Hospital Heidelberg, Germany; email: au.tomczak@yahoo.com
OtherDetails Language Independent{licence=licence, custodian_organisation=custodian_organisation, PARENT:MD5-CAM-1.0.1=PARENT:MD5-CAM-1.0.1, original_namespace=original_namespace, original_publisher=original_publisher, custodian_namespace=custodian_namespace, build_uid=build_uid}
KeywordsReport; Befund; Molekularpathologie; Variante; genetisch; genomisch; Variation; Genom
Language useden
Citeable Identifier1246.169.236
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  • Tumor
  • Blut (EDTA)
  • Blut (für cf-DNS-Extraktion)
  • Mundschleimhautabstrich
  • DNS
  • RNA
  • Normalgewebe
  • Liquor
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  • fixiert (FFPE)
  • Kryofixation
  • nicht fixiert
  • sonstiges
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  •  Coded Text
    • Registered  [The existence of the test is registered in the Laboratory Information System, but there is nothing yet available.]
    • Partial  [This is a partial (e.g. initial, interim or preliminary) Test Result: data in the Test Result may be incomplete or unverified.]
    • Preliminary  [Verified early results are available, but not all results are final. This is a sub-category of 'Partial'.]
    • Final  [The Test result is complete and verified by an authorised person.]
    • Amended  [The result has been modified subsequent to being Final, and is complete and verified by the responsible pathologist, and result data has been changed.]
    • Corrected  [The result has been modified subsequent to being Final, and is complete and verified by the responsible pathologist. This is a sub-category of 'Amended'.]
    • Appended  [Subsequent to being final, the report has been modified by adding new content. The existing content is unchanged. This is a sub-category of 'Amended'.]
    • Cancelled  [The result is unavailable because the test was not started or not completed (also sometimes called 'aborted').]
    • Entered in error  [The Test Result has been withdrawn following previous Final release.]
  •  Text
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  • GRCh37/hg19
  • GRCh38/hg38
  • NCBI36/hg18
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ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0003]/items[at0005], code=at0005, itemType=ELEMENT, level=7, text=Identification, description=The ID of a variation record., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.conversion_variant.v0], code=at0000, itemType=CLUSTER, level=6, text=Conversion variant, description=A sequence change where, compared to a 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text=Replacing sequence end position, description=The position of the last nucleotide of the replacing sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.conversion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1], code=at0018, itemType=CLUSTER, level=7, text=Reference sequence, description=A sequence file that is used as a reference to describe variants that are present in an analysed sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.conversion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0019], code=at0019, itemType=ELEMENT, level=8, text=Source name, description=The name of the data source containing the reference sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.conversion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0020], code=at0020, itemType=ELEMENT, level=8, text=Accession number, description=A unique identifier to refer to a sequence record in a sequence repository., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.conversion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0021], code=at0021, itemType=ELEMENT, level=8, text=Version number, description=An attribute that provides a specific indication of the sequence used for annotation., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.conversion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0022], code=at0022, itemType=ELEMENT, level=8, text=URL, description=Network address., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_URI, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.conversion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0023], code=at0023, itemType=ELEMENT, level=8, text=Chromosome label, description=Chromosome identifier., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Coded Text
    • Chromosome 1  [Chromosome 1.]
    • Chromosome 2  [Chromosome 2.]
    • Chromosome 3  [Chromosome 3.]
    • Chromosome 4  [Chromosome 4.]
    • Chromosome 5  [Chromosome 5.]
    • Chromosome 6  [Chromosome 6.]
    • Chromosome 7  [Chromosome 7.]
    • Chromosome 8  [Chromosome 8.]
    • Chromosome 9  [Chromosome 9.]
    • Chromosome 10  [Chromosome 10.]
    • Chromosome 11  [Chromosome 11.]
    • Chromosome 12  [Chromosome 12.]
    • Chromosome 13  [Chromosome 13.]
    • Chromosome 14  [Chromosome 14.]
    • Chromosome 15  [Chromosome 15.]
    • Chromosome 16  [Chromosome 16.]
    • Chromosome 17  [Chromosome 17.]
    • Chromosome 18  [Chromosome 18.]
    • Chromosome 19  [Chromosome 19.]
    • Chromosome 20  [Chromosome 20.]
    • Chromosome 21  [Chromosome 21.]
    • Chromosome 22  [Chromosome 22.]
    • Chromosome X  [Chromosome X.]
    • Chromosome Y  [Chromosome Y.]
  •  Text
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.deletion_variant.v0], code=at0000, itemType=CLUSTER, level=6, text=Deletion variant, description=A sequence change where, compared to a reference sequence, one or more nucleotides are not present (deleted)., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.deletion_variant.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=7, text=Start position, description=Position of the deleted nucleotide or the first nucleotide of the deleted range., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.deletion_variant.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=7, text=End position, description=Position of the last nucleotide of the deleted range., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.deletion_variant.v0]/items[at0008], code=at0008, itemType=ELEMENT, level=7, text=Deleted nucleotide(s), description=The deleted nucleotide or the sequence deleted., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.deletion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1], code=at0018, itemType=CLUSTER, level=7, text=Reference sequence, description=A sequence file that is used as a reference to describe variants that are present in an analysed sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.deletion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0019], code=at0019, itemType=ELEMENT, level=8, text=Source name, description=The name of the data source containing the reference sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.deletion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0020], code=at0020, itemType=ELEMENT, level=8, text=Accession number, description=A unique identifier to refer to a sequence record in a sequence repository., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.deletion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0021], code=at0021, itemType=ELEMENT, level=8, text=Version number, description=An attribute that provides a specific indication of the sequence used for annotation., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.deletion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0022], code=at0022, itemType=ELEMENT, level=8, text=URL, description=Network address., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_URI, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.deletion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0023], code=at0023, itemType=ELEMENT, level=8, text=Chromosome label, description=Chromosome identifier., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Coded Text
    • Chromosome 1  [Chromosome 1.]
    • Chromosome 2  [Chromosome 2.]
    • Chromosome 3  [Chromosome 3.]
    • Chromosome 4  [Chromosome 4.]
    • Chromosome 5  [Chromosome 5.]
    • Chromosome 6  [Chromosome 6.]
    • Chromosome 7  [Chromosome 7.]
    • Chromosome 8  [Chromosome 8.]
    • Chromosome 9  [Chromosome 9.]
    • Chromosome 10  [Chromosome 10.]
    • Chromosome 11  [Chromosome 11.]
    • Chromosome 12  [Chromosome 12.]
    • Chromosome 13  [Chromosome 13.]
    • Chromosome 14  [Chromosome 14.]
    • Chromosome 15  [Chromosome 15.]
    • Chromosome 16  [Chromosome 16.]
    • Chromosome 17  [Chromosome 17.]
    • Chromosome 18  [Chromosome 18.]
    • Chromosome 19  [Chromosome 19.]
    • Chromosome 20  [Chromosome 20.]
    • Chromosome 21  [Chromosome 21.]
    • Chromosome 22  [Chromosome 22.]
    • Chromosome X  [Chromosome X.]
    • Chromosome Y  [Chromosome Y.]
  •  Text
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.inversion_variant.v0], code=at0000, itemType=CLUSTER, level=6, text=Genetic inversion variant, description=A genetic sequence change where, compared to a reference sequence, more than one nucleotide replacing the original sequence are the reverse complement of the original sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.inversion_variant.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=7, text=Start position, description=Position of the first nucleotide of the inverted range., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.inversion_variant.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=7, text=End position, description=Position of the last nucleotide of the inverted range., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.inversion_variant.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=7, text=Inverted sequence, description=The nucleotide sequence of the reference sequence at th given positions., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.inversion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1], code=at0018, itemType=CLUSTER, level=7, text=Reference sequence, description=A sequence file that is used as a reference to describe variants that are present in an analysed sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.inversion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0019], code=at0019, itemType=ELEMENT, level=8, text=Source name, description=The name of the data source containing the reference sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.inversion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0020], code=at0020, itemType=ELEMENT, level=8, text=Accession number, description=A unique identifier to refer to a sequence record in a sequence repository., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.inversion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0021], code=at0021, itemType=ELEMENT, level=8, text=Version number, description=An attribute that provides a specific indication of the sequence used for annotation., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.inversion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0022], code=at0022, itemType=ELEMENT, level=8, text=URL, description=Network address., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_URI, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.inversion_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0023], code=at0023, itemType=ELEMENT, level=8, text=Chromosome label, description=Chromosome identifier., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Coded Text
    • Chromosome 1  [Chromosome 1.]
    • Chromosome 2  [Chromosome 2.]
    • Chromosome 3  [Chromosome 3.]
    • Chromosome 4  [Chromosome 4.]
    • Chromosome 5  [Chromosome 5.]
    • Chromosome 6  [Chromosome 6.]
    • Chromosome 7  [Chromosome 7.]
    • Chromosome 8  [Chromosome 8.]
    • Chromosome 9  [Chromosome 9.]
    • Chromosome 10  [Chromosome 10.]
    • Chromosome 11  [Chromosome 11.]
    • Chromosome 12  [Chromosome 12.]
    • Chromosome 13  [Chromosome 13.]
    • Chromosome 14  [Chromosome 14.]
    • Chromosome 15  [Chromosome 15.]
    • Chromosome 16  [Chromosome 16.]
    • Chromosome 17  [Chromosome 17.]
    • Chromosome 18  [Chromosome 18.]
    • Chromosome 19  [Chromosome 19.]
    • Chromosome 20  [Chromosome 20.]
    • Chromosome 21  [Chromosome 21.]
    • Chromosome 22  [Chromosome 22.]
    • Chromosome X  [Chromosome X.]
    • Chromosome Y  [Chromosome Y.]
  •  Text
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.substitution_variant.v0], code=at0000, itemType=CLUSTER, level=6, text=Genetic substitution variant, description=A genetic sequence change where, compared to a reference sequence, one nucleotide is replaced by one other nucleotide., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.substitution_variant.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=7, text=Position substituted (Genomposition (aus vcf-File)), description=The position of the sustituted nucleotide., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.substitution_variant.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=7, text=Reference nucleotide ("ref"), description=The nucleotide at reference position., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.substitution_variant.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=7, text=New nucleotide ("alt"), description=Substituted nucleotide., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.substitution_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1], code=at0018, itemType=CLUSTER, level=7, text=Reference sequence, description=A sequence file that is used as a reference to describe variants that are present in an analysed sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.substitution_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0019], code=at0019, itemType=ELEMENT, level=8, text=Source name, description=The name of the data source containing the reference sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.substitution_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0020], code=at0020, itemType=ELEMENT, level=8, text=Accession number, description=A unique identifier to refer to a sequence record in a sequence repository., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.substitution_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0021], code=at0021, itemType=ELEMENT, level=8, text=Version number, description=An attribute that provides a specific indication of the sequence used for annotation., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.substitution_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0022], code=at0022, itemType=ELEMENT, level=8, text=URL, description=Network address., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_URI, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.substitution_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0023], code=at0023, itemType=ELEMENT, level=8, text=Chromosome label, description=Chromosome identifier., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Coded Text
    • Chromosome 1  [Chromosome 1.]
    • Chromosome 2  [Chromosome 2.]
    • Chromosome 3  [Chromosome 3.]
    • Chromosome 4  [Chromosome 4.]
    • Chromosome 5  [Chromosome 5.]
    • Chromosome 6  [Chromosome 6.]
    • Chromosome 7  [Chromosome 7.]
    • Chromosome 8  [Chromosome 8.]
    • Chromosome 9  [Chromosome 9.]
    • Chromosome 10  [Chromosome 10.]
    • Chromosome 11  [Chromosome 11.]
    • Chromosome 12  [Chromosome 12.]
    • Chromosome 13  [Chromosome 13.]
    • Chromosome 14  [Chromosome 14.]
    • Chromosome 15  [Chromosome 15.]
    • Chromosome 16  [Chromosome 16.]
    • Chromosome 17  [Chromosome 17.]
    • Chromosome 18  [Chromosome 18.]
    • Chromosome 19  [Chromosome 19.]
    • Chromosome 20  [Chromosome 20.]
    • Chromosome 21  [Chromosome 21.]
    • Chromosome 22  [Chromosome 22.]
    • Chromosome X  [Chromosome X.]
    • Chromosome Y  [Chromosome Y.]
  •  Text
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.copy_number_variant.v0], code=at0000, itemType=CLUSTER, level=6, text=Genetic copy number variant, description=Describes a copy number variant, where any part of a genome was deleted or duplicated (gain or loss of an allele)., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.copy_number_variant.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=7, text=Start position, description=Start position on the given reference sequence., comment=Number should not be treated as an absolute more as an estimation., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.copy_number_variant.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=7, text=End position, description=End position on the given reference sequence., comment=Number should not be treated as an absolute more as an estimation., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.copy_number_variant.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=7, text=Allelzahl (Total copy number), description=Number of appearance of the allele., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.copy_number_variant.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=7, text=Copy number change type, description=Any copy number variant results in a gain or loss of the region e.g. a loss could result that a hetergozygous locus becomes homozygous since one gene was deleted., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=
  • Gain  [Copy number gain.]
  • Loss  [Copy number loss.]
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.copy_number_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1], code=at0018, itemType=CLUSTER, level=7, text=Reference sequence, description=A sequence file that is used as a reference to describe variants that are present in an analysed sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.copy_number_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0019], code=at0019, itemType=ELEMENT, level=8, text=Source name, description=The name of the data source containing the reference sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.copy_number_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0020], code=at0020, itemType=ELEMENT, level=8, text=Accession number, description=A unique identifier to refer to a sequence record in a sequence repository., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.copy_number_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0021], code=at0021, itemType=ELEMENT, level=8, text=Version number, description=An attribute that provides a specific indication of the sequence used for annotation., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.copy_number_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0022], code=at0022, itemType=ELEMENT, level=8, text=URL, description=Network address., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_URI, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.copy_number_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0023], code=at0023, itemType=ELEMENT, level=8, text=Chromosome label, description=Chromosome identifier., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Coded Text
    • Chromosome 1  [Chromosome 1.]
    • Chromosome 2  [Chromosome 2.]
    • Chromosome 3  [Chromosome 3.]
    • Chromosome 4  [Chromosome 4.]
    • Chromosome 5  [Chromosome 5.]
    • Chromosome 6  [Chromosome 6.]
    • Chromosome 7  [Chromosome 7.]
    • Chromosome 8  [Chromosome 8.]
    • Chromosome 9  [Chromosome 9.]
    • Chromosome 10  [Chromosome 10.]
    • Chromosome 11  [Chromosome 11.]
    • Chromosome 12  [Chromosome 12.]
    • Chromosome 13  [Chromosome 13.]
    • Chromosome 14  [Chromosome 14.]
    • Chromosome 15  [Chromosome 15.]
    • Chromosome 16  [Chromosome 16.]
    • Chromosome 17  [Chromosome 17.]
    • Chromosome 18  [Chromosome 18.]
    • Chromosome 19  [Chromosome 19.]
    • Chromosome 20  [Chromosome 20.]
    • Chromosome 21  [Chromosome 21.]
    • Chromosome 22  [Chromosome 22.]
    • Chromosome X  [Chromosome X.]
    • Chromosome Y  [Chromosome Y.]
  •  Text
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.duplication_variant.v0], code=at0000, itemType=CLUSTER, level=6, text=Genetic duplication variant, description=A genetic sequence change where, compared to a reference sequence, a copy of one or more nucleotides are inserted directly 3' of the original copy of that sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.duplication_variant.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=7, text=Start position, description=Position of the duplicated nucleotide or the first nucleotide of the duplicated range., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.duplication_variant.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=7, text=End position, description=Position of the last nucleotide of the duplicated range., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.duplication_variant.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=7, text=Duplicated nucletide(s), description=The nucleotide or the sequence duplicated., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.duplication_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1], code=at0018, itemType=CLUSTER, level=7, text=Reference sequence, description=A sequence file that is used as a reference to describe variants that are present in an analysed sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.duplication_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0019], code=at0019, itemType=ELEMENT, level=8, text=Source name, description=The name of the data source containing the reference sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.duplication_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0020], code=at0020, itemType=ELEMENT, level=8, text=Accession number, description=A unique identifier to refer to a sequence record in a sequence repository., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.duplication_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0021], code=at0021, itemType=ELEMENT, level=8, text=Version number, description=An attribute that provides a specific indication of the sequence used for annotation., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.duplication_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0022], code=at0022, itemType=ELEMENT, level=8, text=URL, description=Network address., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_URI, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.duplication_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0023], code=at0023, itemType=ELEMENT, level=8, text=Chromosome label, description=Chromosome identifier., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Coded Text
    • Chromosome 1  [Chromosome 1.]
    • Chromosome 2  [Chromosome 2.]
    • Chromosome 3  [Chromosome 3.]
    • Chromosome 4  [Chromosome 4.]
    • Chromosome 5  [Chromosome 5.]
    • Chromosome 6  [Chromosome 6.]
    • Chromosome 7  [Chromosome 7.]
    • Chromosome 8  [Chromosome 8.]
    • Chromosome 9  [Chromosome 9.]
    • Chromosome 10  [Chromosome 10.]
    • Chromosome 11  [Chromosome 11.]
    • Chromosome 12  [Chromosome 12.]
    • Chromosome 13  [Chromosome 13.]
    • Chromosome 14  [Chromosome 14.]
    • Chromosome 15  [Chromosome 15.]
    • Chromosome 16  [Chromosome 16.]
    • Chromosome 17  [Chromosome 17.]
    • Chromosome 18  [Chromosome 18.]
    • Chromosome 19  [Chromosome 19.]
    • Chromosome 20  [Chromosome 20.]
    • Chromosome 21  [Chromosome 21.]
    • Chromosome 22  [Chromosome 22.]
    • Chromosome X  [Chromosome X.]
    • Chromosome Y  [Chromosome Y.]
  •  Text
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description=Position of the last nucleotide of the repeated range., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.repeated_sequence_variant.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=7, text=Repeated sequence, description=The sequence of nucleotides that has been repeated., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[openEHR-EHR-CLUSTER.repeated_sequence_variant.v0]/items[at0007], code=at0007, itemType=ELEMENT, level=7, text=Copy number, description=Number of repeat units., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008], code=at0008, itemType=CLUSTER, level=6, text=Transcript, description=Structured details about the transcript which is potentially affected by the variant., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[openEHR-EHR-CLUSTER.reference_sequence.v1], code=at0018, itemType=CLUSTER, level=7, text=Reference sequence, description=A sequence file that is used as a reference to describe variants that are present in an analysed sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0019], code=at0019, itemType=ELEMENT, level=8, text=Source name, description=The name of the data source containing the reference sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0020], code=at0020, itemType=ELEMENT, level=8, text=Referenztranskript (Accession number), description=A unique identifier to refer to a sequence record in a sequence repository., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0022], code=at0022, itemType=ELEMENT, level=8, text=URL, description=Network address., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_URI, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[at0010], code=at0010, itemType=ELEMENT, level=7, text=DNARegionName, description=A human readable name for the region of interest. Typically Exon #, Intron # or other., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[at0011], code=at0011, itemType=ELEMENT, level=7, text=cDNA Nomenklatur Variante (DNA change), description=Description of the variation at the DNA-level following the HGVS nomenclature., comment=For example: "c.5249C>T" NC_000023.10:g.33038255C>A, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[at0012], code=at0012, itemType=ELEMENT, level=7, text=Proteinebene Nomenklatur Variante (Amino Acid Change), description=Description of the variation at the protein-level following the HGVS nomenclature., comment=For example "p.T1750M", uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[at0013], code=at0013, itemType=ELEMENT, level=7, text=Amino Acid Change Type, description=Codified type for associated Amino Acid Marker., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Coded Text
    • Wild Type  [Wild Type.]
    • Deletion  [A deletion in the amino acid sequence.]
    • Duplication  [A duplication in the amino acid sequence.]
    • Frameshift  [A frameshift in the amino acid sequence.]
    • Initiating Methionine  [Initiating Methionine.]
    • Insertion  [A insertion in the amino acid sequence.]
    • Insertion and Deletion  [An insertion/deletion in the amino acid sequence.]
    • Missense  [Missense.]
    • Nonsense  [Nonsense.]
    • Silent  [Silent.]
    • Stop Codon Mutation  [Stop Codon Mutation.]
  •  Text
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  •  Parsable
  •  Multimedia
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itemType=ELEMENT, level=9, text=Comment, description=Comment about the citation., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[at0052]/items[at0054], code=at0054, itemType=ELEMENT, level=8, text=Impact, description=Interpretative data about the specific variant., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[at0019], code=at0019, itemType=CLUSTER, level=7, text=Gene, description=Structured details about the gene harboring the variant., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[at0019]/items[at0020], code=at0020, itemType=ELEMENT, level=8, text=Gen-Name, description=The official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name., comment=For example "CHD5"., uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[at0019]/items[at0021], code=at0021, itemType=ELEMENT, level=8, text=Full name, description=The full gene name approved by the HGNC that convey the character or function of the gene., comment=For example "Chromodomain helicase DNA binding protein 5"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[at0019]/items[at0056], code=at0056, itemType=ELEMENT, level=8, text=Copy number overlap, description=The fraction of gene region covered by copy number., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_PROPORTION, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[at0019]/items[at0057], code=at0057, itemType=ELEMENT, level=8, text=Fusionstranskript-Name 1 (part of fusion), description=States if the Gene is part of a Fusion Gene and if it is the first or second part of the Fusion Gene., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=
  • First  [First part of a Fusion Gene.]
  • Second  [Second part of a Fusion Gene.]
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[at0058], code=at0058, itemType=ELEMENT, level=7, text=Pathogenitätsklasse/Variantenklassifikation (ACMG classification), description=Single DNA marker or individual allele interpretation in the context of the assessed genetic disease according to the ACMG recommendations., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=
  • Pathogenic  [Pathogenic variant.]
  • Likely pathogenic  [Likely pathogenic variant.]
  • Uncertain significance  [Variant of uncertain significance.]
  • Likely benign  [Likely benign variant.]
  • Benign  [Benign variant.]
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0008]/items[at0059], code=at0059, itemType=ELEMENT, level=7, text=Fusionstranskript-Name 2 (Fusion exon), description=The number of the exon which is either the end or the beginning of the fusion., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0023], code=at0023, itemType=ELEMENT, level=6, text=Best transcript candidate, description=The ID of the transcript with the highest predicted impact., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0060], code=at0060, itemType=ELEMENT, level=6, text=Lesetiefe an Variantenposition (Read depth), description=Total number of reads mapped at this specific location., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0028], code=at0028, itemType=ELEMENT, level=6, text=Allele depth, description=The number of reads that support the reported variant., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0047], code=at0047, itemType=ELEMENT, level=6, text=Allelfrequenz (Allele frequency), description=The relative frequency of an allele at a particular locus, expressed as a number from 0 to 1., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_QUANTITY, bindings=null, values=0..1 1, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0029], code=at0029, itemType=CLUSTER, level=6, text=Population allele frequency details, description=The relative frequency of a particular allele in the population, expressed as a number from 0 to 1., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0029]/items[at0031], code=at0031, itemType=ELEMENT, level=7, text=Population allele frequency, description=The population allele frequency., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_QUANTITY, bindings=null, values=0..1 1, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0061], code=at0061, itemType=CLUSTER, level=6, text=VCF Quality Filter, description=Structured details about the quality filters that have been applied to the data., comment=This field is derived from the FILTER column of VCF., uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0061]/items[at0062], code=at0062, itemType=ELEMENT, level=7, text=Filter name, description=Name of the quality filter., comment=For example "q10"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0061]/items[at0063], code=at0063, itemType=ELEMENT, level=7, text=Description, description=Quality filter extended description., comment=For example "at this site the quality is below 10"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0061]/items[at0064], code=at0064, itemType=ELEMENT, level=7, text=Filter passed, description=Whether the variant passed the quality filter., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_BOOLEAN, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0067], code=at0067, itemType=ELEMENT, level=6, text=Strand bias ratio, description=The ratio of the strand bias., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_QUANTITY, bindings=null, values=Units: 1, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0068], code=at0068, itemType=ELEMENT, level=6, text=Strand bias p-value, description=The Phred-scaled p-value of the strand bias., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_QUANTITY, bindings=null, values=Units: 1, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0039], code=at0039, itemType=ELEMENT, level=6, text=Genotype, description=Genotype encoded as allele values separated by either of / or | (0 for the reference allele, 1 for the first alternate, etc.)., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0040], code=at0040, itemType=ELEMENT, level=6, text=Allelic State, description=The level of occurrence of a single DNA Marker within a set of chromosomes., comment=This is the human readable version of genotype, e.g.: Heterozygous, Homozygous., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Coded Text
    • Heteroplasmic  [Heteroplasmic.]
    • Homoplasmic  [Homoplasmic.]
    • Homozygous  [Homozygous.]
    • Heterozygous  [Heterozygous.]
    • Hemizygous  [Hemizygous.]
  •  Text
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0041], code=at0041, itemType=ELEMENT, level=6, text=Genotype quality, description=Conditional genotype quality, encoded as a phred quality., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0069], code=at0069, itemType=ELEMENT, level=6, text=Genotype probability, description=A comma separated list of the log10-scaled genotype likelihoods for all possible genotypes, given the reference and the alternate alleles., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[openEHR-EHR-CLUSTER.genetic_variant.v0]/items[at0050], code=at0050, itemType=ELEMENT, level=6, text=Genetic Variant Assessment, description=Assessment of the presence or absence of a specific DNA variants., comment='No Call' is different from 'Absent', because 'No Call' did not result in the determination of the marker's presence or absence. This may be due to test failure or specimen specific context which renders the test ineffective., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=
  • Present  [The target variant is present.]
  • Absent  [The target variant is absent.]
  • No call  [No data are available to confirm the presence/absence of the variant.]
  • Indeterminate  [The result is indeterminate.]
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[at0057], code=at0057, itemType=ELEMENT, level=5, text=Conclusion, description=Narrative description of the key findings., comment=For example: 'Pattern suggests significant renal impairment'. The content of the conclusion will vary, depending on the investigation performed. This conclusion should be aligned with the coded 'Test diagnosis'., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[at0098], code=at0098, itemType=ELEMENT, level=5, text=Testdiagnose / Ergebnis, description=Single word, phrase or brief description that represents the clinical meaning and significance of the laboratory test result., comment=For example: 'Severe hepatic impairment', 'Salmonella contamination'. Coding of the diagnosis with a terminology is strongly recommended, where possible. This diagnosis should be aligned with the narrative in the 'Conclusion'., uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=
  • keine/benigne Variante identifiziert
  • Analyse erfolgt, aber nicht auswertbar
  • potentiell patogene Variante identifiziert
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/data[at0003]/items[at0101], code=at0101, itemType=ELEMENT, level=5, text=Comment, description=Additional narrative about the test result not captured in other fields., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/data[at0001]/events[at0002]/state[at0112], code=at0112, itemType=UNSUPPORTEDTOPLEVELATTRIBUTE, level=4, text=State, description=, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=UNSUPPORTEDTOPLEVELATTRIBUTE, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004], code=at0004, itemType=UNSUPPORTEDTOPLEVELATTRIBUTE, level=2, text=Protocol, description=, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=UNSUPPORTEDTOPLEVELATTRIBUTE, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[at0068], code=at0068, itemType=ELEMENT, level=3, text=Analyse-ID / Laborinterne Kennzeichnung, description=A local identifier assigned by the receiving Laboratory Information System (LIS) to track the test process., comment=This identifier is an internal tracking number assigned by the LIS, and it not intended to be the name of the test., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Identifier
  •  Text
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[at0094], code=at0094, itemType=CLUSTER, level=3, text=Test request details, description=Details about the test request., comment=In most situations there is one test request and a single corresponding test result, however this repeating cluster allows for the situation where there may be multiple test requests reported using a single test result. As an example: 'a clinician asks for blood glucose in one request and Urea/electrolytes in a second request, but the lab analyser does both and the lab wishes to report these together'., uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[at0094]/items[at0106], code=at0106, itemType=ELEMENT, level=4, text=Original test requested name, description=Name of the original laboratory test requested., comment=This data element is to be used when the test requested differs from the test actually performed by the laboratory., uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[at0094]/items[at0062], code=at0062, itemType=ELEMENT, level=4, text=Requester order identifier, description=The local identifier assigned by the requesting clinical system., comment=Equivalent to the HL7 Placer Order Identifier., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Identifier
  •  Text
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[at0094]/items[at0063], code=at0063, itemType=ELEMENT, level=4, text=Receiver order identifier, description=The local identifier assigned to the test order by the order filler, usually by the Laboratory Information System (LIS)., comment=Assigning an identifier to a request by the Laboratory lnformation System (LIS) enables tracking progress of the request and enables linking results to requests. It also provides a reference to assist with enquiries and it is usually equivalent to the HL7 Filler Order Identifier., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Identifier
  •  Text
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[at0121], code=at0121, itemType=ELEMENT, level=3, text=Test method, description=Description about the method used to perform the test., comment=Coding with a terminology is desirable, where possible., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=ANY, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1], code=at0000, itemType=CLUSTER, level=3, text=Sequencing assay, description=To record details of the sequencing analysis including a list of all tested genes if panel sequencing was performed., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0001], code=at0001, itemType=ELEMENT, level=4, text=Sequenzierungstechnologie / Analysetechnologie, description=Name of the technology used for sequencing analysis., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Coded Texttermset: external
  •  Text
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[openEHR-EHR-CLUSTER.device.v1], code=at0000, itemType=CLUSTER, level=4, text=Medical device, description=An instrument, apparatus, implant, material or similar, used in the provision of healthcare. In this context, a medical device includes a broad range of devices which act through a variety of physical, mechanical, thermal or similar means but specifically excludes devices which act through medicinal means such as pharmacological, metabolic or immunological methods. The scope is inclusive of disposable devices as well as durable or persisting devices that require tracking, maintenance activities or regular calibration, recognising that each type of device has specific data recording requirements., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[openEHR-EHR-CLUSTER.device.v1]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=Device name, description=Identification of the medical device, preferably by a common name, a formal fully descriptive name or, if required, by class or category of device., comment=This data element will capture the term, phrase or category used in clinical practice. For example: <brand name><machine> (XYZ Audiometer); <size> <brand name> <intravenous catheter> (14G Jelco IV catheter); or <brand name/type> <implant>. Coding with a terminology is desirable, where possible, although this may be local and depending on local supplies available., uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[openEHR-EHR-CLUSTER.device.v1]/items[at0004], code=at0004, itemType=ELEMENT, level=5, text=Manufacturer, description=Name of manufacturer., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[openEHR-EHR-CLUSTER.device.v1]/items[at0022], code=at0022, itemType=ELEMENT, level=5, text=Catalogue number, description=The exact number assigned by the manufacturer, as it appears in the manufacturer's catalogue, device labeling, or accompanying packaging., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[openEHR-EHR-CLUSTER.device.v1]/items[at0025], code=at0025, itemType=ELEMENT, level=5, text=Software version, description=Identification of the version of software being used in the medical device., comment=When the medical device is an actual software application, record the version of the software using this data element. When the medical device has multiple software applications embedded within it, record each software component in a separate CLUSTER archetype within the Components SLOT - either as a nested instance of another CLUSTER.device archetype or using a CLUSTER archetype designed specifically for recording software details (but not yet available at time of this archetype development)., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[openEHR-EHR-CLUSTER.device.v1]/items[at0008], code=at0008, itemType=ELEMENT, level=5, text=Comment, description=Additional narrative about the device not captured in other fields., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0002], code=at0002, itemType=ELEMENT, level=4, text=Kit name, description=Name of the kit used for the experiment., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Text
  •  Coded Text
    • Oncomine Comprehensive Panel V3  [*]
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0003], code=at0003, itemType=ELEMENT, level=4, text=Nucleic acid, description=Type of nucleic acid used for sequencing, e.g. DNA, RNA oder cf-DNA., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Text
  •  Coded Text
    • DNA  [*]
    • RNA  [*]
    • cf-DNA  [*]
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uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0006]/items[at0007], code=at0007, itemType=ELEMENT, level=5, text=Gene symbol, description=The official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0006]/items[at0008], code=at0008, itemType=ELEMENT, level=5, text=Gene name, description=The full gene name approved by the HGNC that convey the character or function of the gene., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0006]/items[openEHR-EHR-CLUSTER.reference_sequence.v1], code=at0018, itemType=CLUSTER, level=5, text=Reference sequence, description=A sequence file that is used as a reference to describe variants that are present in an analysed sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0006]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0019], code=at0019, itemType=ELEMENT, level=6, text=Source name, description=The name of the data source containing the reference sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0006]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0020], code=at0020, itemType=ELEMENT, level=6, text=Accession number, description=A unique identifier to refer to a sequence record in a sequence repository., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0006]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0021], code=at0021, itemType=ELEMENT, level=6, text=Version number, description=An attribute that provides a specific indication of the sequence used for annotation., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0006]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0022], code=at0022, itemType=ELEMENT, level=6, text=URL, description=Network address., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_URI, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0006]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0023], code=at0023, itemType=ELEMENT, level=6, text=Chromosome label, description=Chromosome identifier., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Coded Text
    • Chromosome 1  [Chromosome 1.]
    • Chromosome 2  [Chromosome 2.]
    • Chromosome 3  [Chromosome 3.]
    • Chromosome 4  [Chromosome 4.]
    • Chromosome 5  [Chromosome 5.]
    • Chromosome 6  [Chromosome 6.]
    • Chromosome 7  [Chromosome 7.]
    • Chromosome 8  [Chromosome 8.]
    • Chromosome 9  [Chromosome 9.]
    • Chromosome 10  [Chromosome 10.]
    • Chromosome 11  [Chromosome 11.]
    • Chromosome 12  [Chromosome 12.]
    • Chromosome 13  [Chromosome 13.]
    • Chromosome 14  [Chromosome 14.]
    • Chromosome 15  [Chromosome 15.]
    • Chromosome 16  [Chromosome 16.]
    • Chromosome 17  [Chromosome 17.]
    • Chromosome 18  [Chromosome 18.]
    • Chromosome 19  [Chromosome 19.]
    • Chromosome 20  [Chromosome 20.]
    • Chromosome 21  [Chromosome 21.]
    • Chromosome 22  [Chromosome 22.]
    • Chromosome X  [Chromosome X.]
    • Chromosome Y  [Chromosome Y.]
  •  Text
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0030], code=at0030, itemType=CLUSTER, level=4, text=Tested Region, description=List of all tested regions, if panel sequencing was performed., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0030]/items[at0031], code=at0031, itemType=ELEMENT, level=5, text=Chromosomal location, description=Chromosomal location of tested region., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Text
  •  Coded Texttermset: external
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[path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0030]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0019], code=at0019, itemType=ELEMENT, level=6, text=Source name, description=The name of the data source containing the reference sequence., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0030]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0020], code=at0020, itemType=ELEMENT, level=6, text=Accession number, description=A unique identifier to refer to a sequence record in a sequence repository., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0030]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0021], code=at0021, itemType=ELEMENT, level=6, text=Version number, description=An attribute that provides a specific indication of the sequence used for annotation., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0030]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0022], code=at0022, itemType=ELEMENT, level=6, text=URL, description=Network address., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_URI, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0030]/items[openEHR-EHR-CLUSTER.reference_sequence.v1]/items[at0023], code=at0023, itemType=ELEMENT, level=6, text=Chromosome label, description=Chromosome identifier., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Coded Text
    • Chromosome 1  [Chromosome 1.]
    • Chromosome 2  [Chromosome 2.]
    • Chromosome 3  [Chromosome 3.]
    • Chromosome 4  [Chromosome 4.]
    • Chromosome 5  [Chromosome 5.]
    • Chromosome 6  [Chromosome 6.]
    • Chromosome 7  [Chromosome 7.]
    • Chromosome 8  [Chromosome 8.]
    • Chromosome 9  [Chromosome 9.]
    • Chromosome 10  [Chromosome 10.]
    • Chromosome 11  [Chromosome 11.]
    • Chromosome 12  [Chromosome 12.]
    • Chromosome 13  [Chromosome 13.]
    • Chromosome 14  [Chromosome 14.]
    • Chromosome 15  [Chromosome 15.]
    • Chromosome 16  [Chromosome 16.]
    • Chromosome 17  [Chromosome 17.]
    • Chromosome 18  [Chromosome 18.]
    • Chromosome 19  [Chromosome 19.]
    • Chromosome 20  [Chromosome 20.]
    • Chromosome 21  [Chromosome 21.]
    • Chromosome 22  [Chromosome 22.]
    • Chromosome X  [Chromosome X.]
    • Chromosome Y  [Chromosome Y.]
  •  Text
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-COMPOSITION.report.v1]/content[openEHR-EHR-OBSERVATION.laboratory_test_result.v1]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v1]/items[at0037], code=at0037, itemType=ELEMENT, level=4, text=Comment, description=Comment on the sequencing assay that was not captured in other fields., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null]], templateType=normal]