TEMPLATE Molecular Pathology Report (Molecular Pathology Report)

TEMPLATE IDMolecular Pathology Report
ConceptMolecular Pathology Report
DescriptionUsed to report observations and annotations on genomic mutations found in a sequencing test.
UseTo describe the results of panel sequencing.
PurposeUsed to report observations and annotations on genomic mutations found in a sequencing test.
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=This work is licensed under the Creative Commons Attribution-ShareAlike 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/4.0/., custodian_organisation=openEHR Foundation, PARENT:MD5-CAM-1.0.1=55DB2D45BC470E831EE8C905348471E4, original_namespace=org.openehr, original_publisher=openEHR Foundation, custodian_namespace=org.openehr, MD5-CAM-1.0.1=c2b22b7d52343b4f5dd68eaccd105be3, build_uid=049f2a54-38cd-40a4-ab98-a8bb28653e4c}
Keywordsreport; molecular pathology; variant; genetic; genomic; Panel sequencing; genome
Language useden
Citeable Identifier1013.26.249
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  • fixiert (FFPE)
  • Kryofixation
  • nicht fixiert
  • sonstiges
Default value: fixiert (FFPE), 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.specimen.v0]/items[at0045], code=at0045, itemType=ELEMENT, level=6, text=Comment on Specimen, description=Additional narrative about the specimen not captured in other fields., comment=null, uncommonOntologyItems={fhir_mapping=Specimen.note}, 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[at0073], code=at0073, itemType=ELEMENT, level=5, text=Overall test status, description=The status of the laboratory test result as a whole., comment=The values have been specifically chosen to match those in the HL7 FHIR Diagnostic report, historically derived from HL7v2 practice. Other local codes/terms can be used via the Text 'choice'. This element is multiple occurrence to cater for the use cases where statuses for different aspects of the result have been split into several elements., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Coded Text
    • Registered 
    • Partial 
    • Preliminary 
    • Final 
    • Amended 
    • Corrected 
    • Appended 
    • Cancelled 
    • Entered in error 
  •  Text
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For example: anatomical pathology, immunology and transfusion medicine, medical microbiology, clinical pharmacology, medical genetics, medical biochemistry. Alternatively more granular sub categories or sub disciplines, such as endocrinology, haematology, and allergology services, may be used. This may assist clinicians in filtering between categories of results. 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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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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[at0004], code=at0004, itemType=ELEMENT, level=7, text=End converted position, description=The position of the last nucleotide of the converted 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 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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 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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 2 
    • Chromosome 3 
    • Chromosome 4 
    • Chromosome 5 
    • Chromosome 6 
    • Chromosome 7 
    • Chromosome 8 
    • Chromosome 9 
    • Chromosome 10 
    • Chromosome 11 
    • Chromosome 12 
    • Chromosome 13 
    • Chromosome 14 
    • Chromosome 15 
    • Chromosome 16 
    • Chromosome 17 
    • Chromosome 18 
    • Chromosome 19 
    • Chromosome 20 
    • Chromosome 21 
    • Chromosome 22 
    • Chromosome X 
    • 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=Genetic 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 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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 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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 2 
    • Chromosome 3 
    • Chromosome 4 
    • Chromosome 5 
    • Chromosome 6 
    • Chromosome 7 
    • Chromosome 8 
    • Chromosome 9 
    • Chromosome 10 
    • Chromosome 11 
    • Chromosome 12 
    • Chromosome 13 
    • Chromosome 14 
    • Chromosome 15 
    • Chromosome 16 
    • Chromosome 17 
    • Chromosome 18 
    • Chromosome 19 
    • Chromosome 20 
    • Chromosome 21 
    • Chromosome 22 
    • Chromosome X 
    • 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 
  • Loss 
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  •  Coded Text
    • Chromosome 1 
    • Chromosome 2 
    • Chromosome 3 
    • Chromosome 4 
    • Chromosome 5 
    • Chromosome 6 
    • Chromosome 7 
    • Chromosome 8 
    • Chromosome 9 
    • Chromosome 10 
    • Chromosome 11 
    • Chromosome 12 
    • Chromosome 13 
    • Chromosome 14 
    • Chromosome 15 
    • Chromosome 16 
    • Chromosome 17 
    • Chromosome 18 
    • Chromosome 19 
    • Chromosome 20 
    • Chromosome 21 
    • Chromosome 22 
    • Chromosome X 
    • 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 2 
    • Chromosome 3 
    • Chromosome 4 
    • Chromosome 5 
    • Chromosome 6 
    • Chromosome 7 
    • Chromosome 8 
    • Chromosome 9 
    • Chromosome 10 
    • Chromosome 11 
    • Chromosome 12 
    • Chromosome 13 
    • Chromosome 14 
    • Chromosome 15 
    • Chromosome 16 
    • Chromosome 17 
    • Chromosome 18 
    • Chromosome 19 
    • Chromosome 20 
    • Chromosome 21 
    • Chromosome 22 
    • Chromosome X 
    • 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 2 
    • Chromosome 3 
    • Chromosome 4 
    • Chromosome 5 
    • Chromosome 6 
    • Chromosome 7 
    • Chromosome 8 
    • Chromosome 9 
    • Chromosome 10 
    • Chromosome 11 
    • Chromosome 12 
    • Chromosome 13 
    • Chromosome 14 
    • Chromosome 15 
    • Chromosome 16 
    • Chromosome 17 
    • Chromosome 18 
    • Chromosome 19 
    • Chromosome 20 
    • Chromosome 21 
    • Chromosome 22 
    • Chromosome X 
    • 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.repeated_sequence_variant.v0], code=at0000, itemType=CLUSTER, level=6, text=Genetic repeated sequence variant, description=A genetic sequence where, compared to a reference sequence, a segment of one or more nucleotides (the repeat unit) is present several times, one after the other., 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.repeated_sequence_variant.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=7, text=Start position, description=Position of the first nucleotide of the repeated 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.repeated_sequence_variant.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=7, text=End position, 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[openEHR-EHR-CLUSTER.repeated_sequence_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.repeated_sequence_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.repeated_sequence_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.repeated_sequence_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.repeated_sequence_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.repeated_sequence_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 2 
    • Chromosome 3 
    • Chromosome 4 
    • Chromosome 5 
    • Chromosome 6 
    • Chromosome 7 
    • Chromosome 8 
    • Chromosome 9 
    • Chromosome 10 
    • Chromosome 11 
    • Chromosome 12 
    • Chromosome 13 
    • Chromosome 14 
    • Chromosome 15 
    • Chromosome 16 
    • Chromosome 17 
    • Chromosome 18 
    • Chromosome 19 
    • Chromosome 20 
    • Chromosome 21 
    • Chromosome 22 
    • Chromosome X 
    • 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 2 
    • Chromosome 3 
    • Chromosome 4 
    • Chromosome 5 
    • Chromosome 6 
    • Chromosome 7 
    • Chromosome 8 
    • Chromosome 9 
    • Chromosome 10 
    • Chromosome 11 
    • Chromosome 12 
    • Chromosome 13 
    • Chromosome 14 
    • Chromosome 15 
    • Chromosome 16 
    • Chromosome 17 
    • Chromosome 18 
    • Chromosome 19 
    • Chromosome 20 
    • Chromosome 21 
    • Chromosome 22 
    • Chromosome X 
    • 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.translocation_variant.v0], code=at0000, itemType=CLUSTER, level=6, text=Genetic translocation variant, description=Translocation 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[openEHR-EHR-CLUSTER.translocation_variant.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=7, text=Breakpoint position 1, description=Position of first breakpoint relative to start of "Chromosome 1"., 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.translocation_variant.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=7, text=Strand 1, description=A value of "+" indicates that the chromosomal segment at the second breakpoint is connected to the chromosomal segment at the first breakpoint right of "Breakpoint position 1". A value of "-" indicates that the chromosomal segment at the second breakpoint is connected to the chromosomal segment of the first breakpoint left of "Breakpoint position 1"., 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.translocation_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1 and name/value='Reference sequence'], 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.translocation_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1 and name/value='Reference sequence']/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.translocation_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1 and name/value='Reference sequence']/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.translocation_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1 and name/value='Reference sequence']/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.translocation_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1 and name/value='Reference sequence']/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.translocation_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1 and name/value='Reference sequence']/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 2 
    • Chromosome 3 
    • Chromosome 4 
    • Chromosome 5 
    • Chromosome 6 
    • Chromosome 7 
    • Chromosome 8 
    • Chromosome 9 
    • Chromosome 10 
    • Chromosome 11 
    • Chromosome 12 
    • Chromosome 13 
    • Chromosome 14 
    • Chromosome 15 
    • Chromosome 16 
    • Chromosome 17 
    • Chromosome 18 
    • Chromosome 19 
    • Chromosome 20 
    • Chromosome 21 
    • Chromosome 22 
    • Chromosome X 
    • 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.translocation_variant.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=7, text=Breakpoint position 2, description=Position of second breakpoint relative to start of "Chromosome 2"., 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.translocation_variant.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=7, text=Strand 2, description=A value of "+" indicates that the chromosomal segment at the first breakpoint is connected to the chromosomal segment at the second breakpoint right of "Breakpoint position 2". A value of "-" indicates that the chromosomal segment at the first breakpoint is connected to the chromosomal segment of the second breakpoint left of "Breakpoint position 2"., 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.translocation_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1 and name/value='Reference sequence (2)'], code=at0018, itemType=CLUSTER, level=7, text=Reference sequence (2), 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.translocation_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1 and name/value='Reference sequence (2)']/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.translocation_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1 and name/value='Reference sequence (2)']/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.translocation_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1 and name/value='Reference sequence (2)']/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.translocation_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1 and name/value='Reference sequence (2)']/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.translocation_variant.v0]/items[openEHR-EHR-CLUSTER.reference_sequence.v1 and name/value='Reference sequence (2)']/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 2 
    • Chromosome 3 
    • Chromosome 4 
    • Chromosome 5 
    • Chromosome 6 
    • Chromosome 7 
    • Chromosome 8 
    • Chromosome 9 
    • Chromosome 10 
    • Chromosome 11 
    • Chromosome 12 
    • Chromosome 13 
    • Chromosome 14 
    • Chromosome 15 
    • Chromosome 16 
    • Chromosome 17 
    • Chromosome 18 
    • Chromosome 19 
    • Chromosome 20 
    • Chromosome 21 
    • Chromosome 22 
    • Chromosome X 
    • 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.translocation_variant.v0]/items[at0009], code=at0009, itemType=ELEMENT, level=7, text=HGVS term, description=The description of the variant using the recommendations of the accepted HGVS nomeclature named extension ISCN., 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.indel_variant.v0], code=at0000, itemType=CLUSTER, level=6, text=Genetic deletion-insertion variant, description=A genetic sequence change where, compared to a reference sequence, one or more nucleotides are replaced by one or more other nucleotides and which is not a substitution, inversion or conversion., 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.indel_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.indel_variant.v0]/items[at0003], code=at0003, 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.indel_variant.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=7, text=Deleted nucleotide(s), description=The deleted nucleotide or sequence., 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.indel_variant.v0]/items[at0007], code=at0007, itemType=ELEMENT, level=7, text=Inserted nucleotide(s), description=The sequence inserted., 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.indel_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.indel_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, 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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 2 
    • Chromosome 3 
    • Chromosome 4 
    • Chromosome 5 
    • Chromosome 6 
    • Chromosome 7 
    • Chromosome 8 
    • Chromosome 9 
    • Chromosome 10 
    • Chromosome 11 
    • Chromosome 12 
    • Chromosome 13 
    • Chromosome 14 
    • Chromosome 15 
    • Chromosome 16 
    • Chromosome 17 
    • Chromosome 18 
    • Chromosome 19 
    • Chromosome 20 
    • Chromosome 21 
    • Chromosome 22 
    • Chromosome X 
    • 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.insertion_variant.v0], code=at0000, itemType=CLUSTER, level=6, text=Insertion variant, description=A sequence change where, compared to the reference sequence, one or more nucleotides are inserted and where the insertion is not a copy of a sequence immediately 5'., 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.insertion_variant.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=7, text=Start position, description=The position of the first of the two flanking nucleotides., 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.insertion_variant.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=7, text=End position, description=The position of the last of the two flanking nucleotides., 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.insertion_variant.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=7, text=Inserted nucleotide(s), description=The sequence inserted between the two flanking nucleotides., 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.insertion_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.insertion_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.insertion_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.insertion_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.insertion_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.insertion_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 2 
    • Chromosome 3 
    • Chromosome 4 
    • Chromosome 5 
    • Chromosome 6 
    • Chromosome 7 
    • Chromosome 8 
    • Chromosome 9 
    • Chromosome 10 
    • Chromosome 11 
    • Chromosome 12 
    • Chromosome 13 
    • Chromosome 14 
    • Chromosome 15 
    • Chromosome 16 
    • Chromosome 17 
    • Chromosome 18 
    • Chromosome 19 
    • Chromosome 20 
    • Chromosome 21 
    • Chromosome 22 
    • Chromosome X 
    • 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[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= Value set: 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 
    • Deletion 
    • Duplication 
    • Frameshift 
    • Initiating Methionine 
    • Insertion 
    • Insertion and Deletion 
    • Missense 
    • Nonsense 
    • Silent 
    • Stop Codon Mutation 
  •  Text
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  •  Parsable
  •  Multimedia
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  • Aktivierende Mutation
  • Vermutlich Aktivierende Mutation
  • Vermutlich Deletär
  • Deletär
  • Variante unbekannter Signifikanz
  • Polymorphismus
  • Vermutlicher Polymorphismus
  • Resistenzmutation
  • [...]
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  • First 
  • Second 
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  • Pathogenic 
  • Likely pathogenic 
  • Uncertain significance 
  • Likely benign 
  • Benign 
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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 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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: , extendedValues=null], ResourceSimplifiedHierarchyItem 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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 
    • Homoplasmic 
    • Homozygous 
    • Heterozygous 
    • Hemizygous 
  •  Text
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  • Present 
  • Absent 
  • No call 
  • Indeterminate 
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  • 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]/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[openEHR-EHR-CLUSTER.sequencing_assay.v0], 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.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=4, text=Sequencing technology, 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 Text
    • NGS (hybrid-capture) 
    • NGS (amplicon) 
    • Genome sequencing 
    • Array-CGH 
    • MLPA 
    • Sanger sequencing 
    • Fragment analysis 
    • Methylation assay 
    • Miscellaneous 
  •  Text
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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.v0]/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.v0]/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.v0]/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.v0]/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.v0]/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.v0]/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.v0]/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 
, 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.v0]/items[at0020], code=at0020, itemType=ELEMENT, level=4, text=Tumor cell percentage, description=To record the tumor cell content in percent., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_COUNT, bindings=null, values=0..100, 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.v0]/items[at0006], code=at0006, itemType=CLUSTER, level=4, text=Tested Genes, description=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.v0]/items[at0006]/items[at0007], code=at0007, itemType=ELEMENT, level=5, text=Gen 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.v0]/items[at0006]/items[at0008], code=at0008, itemType=ELEMENT, level=5, text=Gen 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.v0]/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.v0]/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 Text Value set: external
, 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.v0]/items[at0030]/items[at0032], code=at0032, itemType=ELEMENT, level=5, text=Start, description=Start position of the tested region., 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]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v0]/items[at0030]/items[at0033], code=at0033, itemType=ELEMENT, level=5, text=End, description=End position of the tested region., 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]/protocol[at0004]/items[openEHR-EHR-CLUSTER.sequencing_assay.v0]/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]