TEMPLATE Interpretation (b631c87e-16fb-4064-8d75-7c5af314b9ca)

TEMPLATE IDb631c87e-16fb-4064-8d75-7c5af314b9ca
ConceptInterpretation
DescriptionThis message intends to represent the interpretation of a genomic analysis, such as the report from a diagnostic laboratory.
PurposeThis message intends to represent the interpretation of a genomic analysis, such as the report from a diagnostic laboratory.
References
Authorsdate: 2019-09-26; name: Heather Leslie; organisation: Atomica Informatics; email: heather.leslie@atomicainformatics.com
Other Details Languagedate: 2019-09-26; name: Heather Leslie; organisation: Atomica Informatics; email: heather.leslie@atomicainformatics.com
OtherDetails Language Independent{licence=licence, custodian_organisation=custodian_organisation, PARENT:MD5-CAM-1.0.1=PARENT:MD5-CAM-1.0.1, original_namespace=original_namespace, original_publisher=original_publisher, custodian_namespace=custodian_namespace, MD5-CAM-1.0.1=MD5-CAM-1.0.1}
Language useden
Citeable Identifier1013.26.238
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  • 0: UNKNOWN  [No information is available about the diagnosis.]
  • 1: SOLVED  [The interpretation is considered to be a definitive diagnosis.]
  • 2: UNSOLVED  [No definitive diagnosis was found.]
  • 3: IN_PROGRESS  [No diagnosis has been found to date but additional differential diagnostic work is in progress.]
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be represented as a code and a text label pair. For example: "UBERON::0001256 | wall of urinary bladder |"., uncommonOntologyItems=null, occurencesFormal=1..*, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0008], code=at0008, itemType=ELEMENT, level=4, text=taxonomy, description=Species of the sampled individual., comment=To be represented as a code and a text label pair., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0010], code=at0010, itemType=ELEMENT, level=4, text=individual_age_at_collection, description=Age, or age range, of the proband at the time the sample was taken, comment=For example: "P52Y2M"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Duration
  •  Interval of Duration
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For example: "NCIT::C84509|Primary Malignant Neoplasm|"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0013], code=at0013, itemType=ELEMENT, level=4, text=tumor_grade, description=List of terms representing the tumor grade or stage., comment=To be represented as a code and a text label pair. For example: "NCIT::C48766|pT2b Stage Finding|" or "NCIT::C48750|pN2 Stage Finding|"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0014], code=at0014, itemType=ELEMENT, level=4, text=diagnostic_markers, description=Clinically relevant biomarkers., comment=To be represented as a code and a text label pair., uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[openEHR-EHR-CLUSTER.pp_procedure.v0], code=at0000, itemType=CLUSTER, level=4, text=Procedure, description=Phenopacket procedure, comment=null, uncommonOntologyItems=null, occurencesFormal=1..*, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[openEHR-EHR-CLUSTER.pp_procedure.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=code, description=clinical procedure performed on a subject, comment=To be represented as a code and a text label pair. For example: "NCIT::C28743|Punch Biopsy"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[openEHR-EHR-CLUSTER.pp_procedure.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=body_site, description=Specific body site if unable to represent this as the code., comment=To be represented as a code and a text label pair. For example: "UBERON::0003403|skin of forearm"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0018], code=at0018, itemType=ELEMENT, level=4, text=is_control_sample, description=Whether the sample is being used as a normal control., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_BOOLEAN, bindings=null, values=Assumed value: false, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_gene.v0], code=at0000, itemType=CLUSTER, level=3, text=Gene, description=Phenopacket gene, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_gene.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=4, text=gene symbol, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0], code=at0000, itemType=CLUSTER, level=3, text=Variant, description=This archetype should be used to describe candidate variants or diagnosed causative variants. There is currently no standard variant nomenclature that can represent all kinds of genetic variation that is relevant to human medicine, science, and model organisms. Therefore, we represent variants using the keyword oneof, which is used in protobuf for an item with many optional fields where at most one field will be set at the same time. Variant messages contain an allele and the zygosity of the allele. Alleles can be listed using HGVS, VCF, SPDI or ISCN notation. The phenopacket schema will implement the GA4GH Variation Representation Specification once that is mature. The VR-Spec will be the recommended option in some settings. See: https://vr-spec.readthedocs.io/en/1.0rc/ See: https://github.com/ga4gh-beacon/specification/blob/master/beacon.yaml The Variant element itself is an optional element of a Phenopacket or Biosample. If it is present, the Phenopacket standard has the following requirements. Alleles can refer to external sources, for example the ClinGen allele registry, ClinVar, dbSNP, dbVAR etc. using the id field. It is RECOMMENDED to use a CURIE identifier and corresponding Resource. N.B. phase information for alleles are not represented in this model., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_hgvsallele.v0], code=at0000, itemType=CLUSTER, level=4, text=HgvsAllele, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=1..4, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_hgvsallele.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=id, description=An arbitrary identifier., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_hgvsallele.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=hgvs, description=*, comment=For example: NM_000226.3:c.470T>G., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_iscnallele.v0], code=at0000, itemType=CLUSTER, level=4, text=IscnAllele, description=IscnAllele, comment=null, uncommonOntologyItems=null, occurencesFormal=1..4, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_iscnallele.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=id, description=An arbitrary identifier., comment=For example: ""ISCN:12345"", uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_iscnallele.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=iscn, description=*, comment=For example: "t(8;9;11)(q12;p24;p12)"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0], code=at0000, itemType=CLUSTER, level=4, text=SpdiAllele, description=SpdiAllele, comment=null, uncommonOntologyItems=null, occurencesFormal=1..4, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=id, description=An arbitrary identifier., comment=For example: "clinvar:13294"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=seq_id, description=*, comment=For example: "NC_000001.10"., uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=5, text=position, description=*, comment=For example: "12346"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=5, text=deleted_sequence, description=*, comment=For example: "A"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=5, text=inserted_sequence, description=*, comment=For example: "G"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0], code=at0000, itemType=CLUSTER, level=4, text=VcfAllele, description=null, comment=null, uncommonOntologyItems=null, occurencesFormal=1..4, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=genome_assembly, description=*, comment=For example: "GRCh38"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=id, description=An arbitrary identifier., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=5, text=chr, description=*, comment=For example: "2"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=5, text=pos, description=*, comment=For example: "134327882"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=5, text=re, description=*, comment=For example: "A"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=5, text=alt, description=*, comment=For example: "C" or "<DUP>"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0007], code=at0007, itemType=ELEMENT, level=5, text=info, description=*, comment=For example: "END=43500;SVTYPE=DUP;CHR2=1;SVLEN=29000;"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=4, text=zygosity, description=*, comment=The zygosity of the variant as determined in all of the samples represented in this Phenopacket is represented using a list of terms taken from the Genotype Ontology (GENO). For instance, if a variant affects one of two alleles at a certain locus, we could record the zygosity using the term heterozygous (GENO:0000135)., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_disease.v0], code=at0000, itemType=CLUSTER, level=3, text=Disease, description=Phenopacket disease, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_disease.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=4, text=term, description=An coded term that represents the disease., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_disease.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=4, text=onset, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  DurationUnits:
    • Year
    • Month
    • Day
  •  Coded Texttermset: external
  •  Interval of DurationLower constraint: Units:
    • Year
    • Month
    • Day

    Upper constraint: Units:
    • Year
    • Month
    • Day
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_disease.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=4, text=tumor_stage, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0], code=at0000, itemType=CLUSTER, level=3, text=HtsFile, description=Phenopacket HtsFile, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=4, text=uri, description=A valid URI., comment=For example: "file://data/genomes/germline_wgs.vcf.gz"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=4, text=description, description=Arbitrary description of the file, comment=For example; "Matched normal germline sample"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=4, text=hts_format, description=*, comment=For example: "VCF"., uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=
  • UNKNOWN  [An HTS file of unknown type.]
  • SAM  [A SAM format file.]
  • BAM  [A BAM format file.]
  • CRAM  [A CRAM format file.]
  • VCF  [A VCF format file.]
  • BCF  [A BCF format file.]
  • GVCF  [A GVCF format file.]
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0011], code=at0011, itemType=ELEMENT, level=4, text=genome_assembly, description=*, comment=For example: "GRCh38"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0012], code=at0012, itemType=ELEMENT, level=4, text=individual_identifier, description=The Individual.id component required for mapping between the Individual.id or Biosample.id to the sample identifier in the HTS file., comment=For example: "patient23456"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0013], code=at0013, itemType=ELEMENT, level=4, text=sample_identifier, description=The Biosample.id component required for mapping between the Individual.id or Biosample.id to the sample identifier in the HTS file., comment=For example: "NA12345"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0], code=at0000, itemType=CLUSTER, level=3, text=MetaData, description=Phenopacket MetaData, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=4, text=created, description=Representation of the time when this object was created., comment=For example: "2019-04-01T15:10:17.808Z"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_DATE_TIME, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=4, text=created by, description=Name of person who created the phenopacket., comment=This is a string that represents an identifier for the contributor/ program. The expected syntax and semantics are application-dependent., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=4, text=submitted by, description=Name of person who submitted the phenopacket., comment=This is a string that represents an identifier for the person who submitted the phenopacket (who may not be the person who created the phenopacket)., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0], code=at0000, itemType=CLUSTER, level=4, text=Resource, description=Phenopacket resource, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=id, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=name, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=5, text=namespace_prefix, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=5, text=url, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_URI, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=5, text=version, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=5, text=iri-prefix, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_update.v0], code=at0000, itemType=CLUSTER, level=4, text=Update, description=Phenopacket update, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_update.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=timestamp, description=ISO8601 UTC timestamp at which this record was updated, comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_DATE_TIME, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_update.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=updated_by, description=Information about the person/organisation/network that has updated the phenopacket., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_update.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=5, text=comment, description=Textual comment about the changes made to the content and/or reason for the update., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=4, text=phenopacket_schema_version, description=Schema version of the current phenopacket., comment=A string representing the version of the phenopacket-schema according to which a phenopacket was made., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_external_reference.v0], code=at0000, itemType=CLUSTER, level=4, text=External reference, description=Phenopacket external reference, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_external_reference.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=id, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_external_reference.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=description, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0], code=at0000, itemType=CLUSTER, level=2, text=Family, description=Phenopacket family framework, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=3, text=id, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband'], code=at0000, itemType=CLUSTER, level=3, text=Proband, description=Phenotypic framework, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[at0002], code=at0002, itemType=ELEMENT, level=4, text=id, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[at0003], code=at0003, itemType=ELEMENT, level=4, text=subject, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0], code=at0000, itemType=CLUSTER, level=4, text=Phenotypic feature, description=Phenotypic feature, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=description, description=Human-readable verbiage NOT for structured text., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=type, description=*, comment=For example: "HP::0000520|Proptosis"., uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=5, text=negated, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_BOOLEAN, bindings=null, values=Assumed value: false, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=5, text=severity, description=Description of the severity of the feature described in type representing HP:0012824., comment=For example: "HP::0012825|Mild"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=5, text=modifier, description=representing one or more terms from HP:0012823, comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=5, text=onset, description=??The age group in which disease manifestations appear., comment=HP:0003674 HP:0011462 For example: "HP::0003577|Congenital onset"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[openEHR-EHR-CLUSTER.pp_evidence.v0], code=at0000, itemType=CLUSTER, level=5, text=Evidence, description=Phenopacket evidence, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[openEHR-EHR-CLUSTER.pp_evidence.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=6, text=evidence_code, description=An coded value that represents the evidence type., comment=For example: "ECO::0006017|author statement from published clinical study used in manual assertion|"., uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[openEHR-EHR-CLUSTER.pp_evidence.v0]/items[openEHR-EHR-CLUSTER.pp_external_reference.v0], code=at0000, itemType=CLUSTER, level=6, text=External reference, description=Phenopacket external reference, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[openEHR-EHR-CLUSTER.pp_evidence.v0]/items[openEHR-EHR-CLUSTER.pp_external_reference.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=7, text=id, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[openEHR-EHR-CLUSTER.pp_evidence.v0]/items[openEHR-EHR-CLUSTER.pp_external_reference.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=7, text=description, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_biosample.v0], code=at0000, itemType=CLUSTER, level=4, text=Biosample, description=biosample, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=id, description=Arbitrary identifier., comment=For example: "sample1"., uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=5, text=individual id, description=Arbitrary identifier., comment=For example: "patient1"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=5, text=description, description=Arbitrary text, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=5, text=sampled_tissue, description=Tissue from which the sample was taken., comment=To be represented as a code and a text label pair. For example: "UBERON::0001256 | wall of urinary bladder |"., uncommonOntologyItems=null, occurencesFormal=1..*, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0008], code=at0008, itemType=ELEMENT, level=5, text=taxonomy, description=Species of the sampled individual., comment=To be represented as a code and a text label pair., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0010], code=at0010, itemType=ELEMENT, level=5, text=individual_age_at_collection, description=Age, or age range, of the proband at the time the sample was taken, comment=For example: "P52Y2M"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Duration
  •  Interval of Duration
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0011], code=at0011, itemType=ELEMENT, level=5, text=histological diagnosis, description=Disease diagnosis that was inferred from the histological examination., comment=To be represented as a code and a text label pair. For example: NCIT::C39853|Infiltrating Urothelial Carcinoma|"., uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0012], code=at0012, itemType=ELEMENT, level=5, text=tumor_progression, description=Indicates primary, metastatic, recurrent., comment=To be represented as a code and a text label pair. For example: "NCIT::C84509|Primary Malignant Neoplasm|"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0013], code=at0013, itemType=ELEMENT, level=5, text=tumor_grade, description=List of terms representing the tumor grade or stage., comment=To be represented as a code and a text label pair. For example: "NCIT::C48766|pT2b Stage Finding|" or "NCIT::C48750|pN2 Stage Finding|"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0014], code=at0014, itemType=ELEMENT, level=5, text=diagnostic_markers, description=Clinically relevant biomarkers., comment=To be represented as a code and a text label pair., uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[openEHR-EHR-CLUSTER.pp_procedure.v0], code=at0000, itemType=CLUSTER, level=5, text=Procedure, description=Phenopacket procedure, comment=null, uncommonOntologyItems=null, occurencesFormal=1..*, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[openEHR-EHR-CLUSTER.pp_procedure.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=6, text=code, description=clinical procedure performed on a subject, comment=To be represented as a code and a text label pair. For example: "NCIT::C28743|Punch Biopsy"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[openEHR-EHR-CLUSTER.pp_procedure.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=6, text=body_site, description=Specific body site if unable to represent this as the code., comment=To be represented as a code and a text label pair. For example: "UBERON::0003403|skin of forearm"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0018], code=at0018, itemType=ELEMENT, level=5, text=is_control_sample, description=Whether the sample is being used as a normal control., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_BOOLEAN, bindings=null, values=Assumed value: false, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_gene.v0], code=at0000, itemType=CLUSTER, level=4, text=Gene, description=Phenopacket gene, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_gene.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=gene symbol, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0], code=at0000, itemType=CLUSTER, level=4, text=Variant, description=This archetype should be used to describe candidate variants or diagnosed causative variants. There is currently no standard variant nomenclature that can represent all kinds of genetic variation that is relevant to human medicine, science, and model organisms. Therefore, we represent variants using the keyword oneof, which is used in protobuf for an item with many optional fields where at most one field will be set at the same time. Variant messages contain an allele and the zygosity of the allele. Alleles can be listed using HGVS, VCF, SPDI or ISCN notation. The phenopacket schema will implement the GA4GH Variation Representation Specification once that is mature. The VR-Spec will be the recommended option in some settings. See: https://vr-spec.readthedocs.io/en/1.0rc/ See: https://github.com/ga4gh-beacon/specification/blob/master/beacon.yaml The Variant element itself is an optional element of a Phenopacket or Biosample. If it is present, the Phenopacket standard has the following requirements. Alleles can refer to external sources, for example the ClinGen allele registry, ClinVar, dbSNP, dbVAR etc. using the id field. It is RECOMMENDED to use a CURIE identifier and corresponding Resource. N.B. phase information for alleles are not represented in this model., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_hgvsallele.v0], code=at0000, itemType=CLUSTER, level=5, text=HgvsAllele, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=1..4, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_hgvsallele.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=6, text=id, description=An arbitrary identifier., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_hgvsallele.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=6, text=hgvs, description=*, comment=For example: NM_000226.3:c.470T>G., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_iscnallele.v0], code=at0000, itemType=CLUSTER, level=5, text=IscnAllele, description=IscnAllele, comment=null, uncommonOntologyItems=null, occurencesFormal=1..4, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_iscnallele.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=6, text=id, description=An arbitrary identifier., comment=For example: ""ISCN:12345"", uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_iscnallele.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=6, text=iscn, description=*, comment=For example: "t(8;9;11)(q12;p24;p12)"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0], code=at0000, itemType=CLUSTER, level=5, text=SpdiAllele, description=SpdiAllele, comment=null, uncommonOntologyItems=null, occurencesFormal=1..4, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=6, text=id, description=An arbitrary identifier., comment=For example: "clinvar:13294"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=6, text=seq_id, description=*, comment=For example: "NC_000001.10"., uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=6, text=position, description=*, comment=For example: "12346"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=6, text=deleted_sequence, description=*, comment=For example: "A"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=6, text=inserted_sequence, description=*, comment=For example: "G"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0], code=at0000, itemType=CLUSTER, level=5, text=VcfAllele, description=null, comment=null, uncommonOntologyItems=null, occurencesFormal=1..4, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=6, text=genome_assembly, description=*, comment=For example: "GRCh38"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=6, text=id, description=An arbitrary identifier., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=6, text=chr, description=*, comment=For example: "2"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=6, text=pos, description=*, comment=For example: "134327882"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=6, text=re, description=*, comment=For example: "A"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=6, text=alt, description=*, comment=For example: "C" or "<DUP>"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0007], code=at0007, itemType=ELEMENT, level=6, text=info, description=*, comment=For example: "END=43500;SVTYPE=DUP;CHR2=1;SVLEN=29000;"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=zygosity, description=*, comment=The zygosity of the variant as determined in all of the samples represented in this Phenopacket is represented using a list of terms taken from the Genotype Ontology (GENO). For instance, if a variant affects one of two alleles at a certain locus, we could record the zygosity using the term heterozygous (GENO:0000135)., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_disease.v0], code=at0000, itemType=CLUSTER, level=4, text=Disease, description=Phenopacket disease, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_disease.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=term, description=An coded term that represents the disease., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_disease.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=onset, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  DurationUnits:
    • Year
    • Month
    • Day
  •  Coded Texttermset: external
  •  Interval of DurationLower constraint: Units:
    • Year
    • Month
    • Day

    Upper constraint: Units:
    • Year
    • Month
    • Day
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_disease.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=5, text=tumor_stage, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_htsfile.v0], code=at0000, itemType=CLUSTER, level=4, text=HtsFile, description=Phenopacket HtsFile, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=uri, description=A valid URI., comment=For example: "file://data/genomes/germline_wgs.vcf.gz"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=description, description=Arbitrary description of the file, comment=For example; "Matched normal germline sample"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=5, text=hts_format, description=*, comment=For example: "VCF"., uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=
  • UNKNOWN  [An HTS file of unknown type.]
  • SAM  [A SAM format file.]
  • BAM  [A BAM format file.]
  • CRAM  [A CRAM format file.]
  • VCF  [A VCF format file.]
  • BCF  [A BCF format file.]
  • GVCF  [A GVCF format file.]
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0011], code=at0011, itemType=ELEMENT, level=5, text=genome_assembly, description=*, comment=For example: "GRCh38"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0012], code=at0012, itemType=ELEMENT, level=5, text=individual_identifier, description=The Individual.id component required for mapping between the Individual.id or Biosample.id to the sample identifier in the HTS file., comment=For example: "patient23456"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0013], code=at0013, itemType=ELEMENT, level=5, text=sample_identifier, description=The Biosample.id component required for mapping between the Individual.id or Biosample.id to the sample identifier in the HTS file., comment=For example: "NA12345"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_metadata.v0], code=at0000, itemType=CLUSTER, level=4, text=MetaData, description=Phenopacket MetaData, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=created, description=Representation of the time when this object was created., comment=For example: "2019-04-01T15:10:17.808Z"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_DATE_TIME, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=created by, description=Name of person who created the phenopacket., comment=This is a string that represents an identifier for the contributor/ program. The expected syntax and semantics are application-dependent., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=5, text=submitted by, description=Name of person who submitted the phenopacket., comment=This is a string that represents an identifier for the person who submitted the phenopacket (who may not be the person who created the phenopacket)., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, 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[path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=5, text=sampled_tissue, description=Tissue from which the sample was taken., comment=To be represented as a code and a text label pair. For example: "UBERON::0001256 | wall of urinary bladder |"., uncommonOntologyItems=null, occurencesFormal=1..*, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0008], code=at0008, itemType=ELEMENT, level=5, text=taxonomy, description=Species of the sampled individual., comment=To be represented as a code and a text label pair., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0010], code=at0010, itemType=ELEMENT, level=5, text=individual_age_at_collection, description=Age, or age range, of the proband at the time the sample was taken, comment=For example: "P52Y2M"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  Duration
  •  Interval of Duration
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0011], code=at0011, itemType=ELEMENT, level=5, text=histological diagnosis, description=Disease diagnosis that was inferred from the histological examination., comment=To be represented as a code and a text label pair. For example: NCIT::C39853|Infiltrating Urothelial Carcinoma|"., uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0012], code=at0012, itemType=ELEMENT, level=5, text=tumor_progression, description=Indicates primary, metastatic, recurrent., comment=To be represented as a code and a text label pair. For example: "NCIT::C84509|Primary Malignant Neoplasm|"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0013], code=at0013, itemType=ELEMENT, level=5, text=tumor_grade, description=List of terms representing the tumor grade or stage., comment=To be represented as a code and a text label pair. For example: "NCIT::C48766|pT2b Stage Finding|" or "NCIT::C48750|pN2 Stage Finding|"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0014], code=at0014, itemType=ELEMENT, level=5, text=diagnostic_markers, description=Clinically relevant biomarkers., comment=To be represented as a code and a text label pair., uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[openEHR-EHR-CLUSTER.pp_procedure.v0], code=at0000, itemType=CLUSTER, level=5, text=Procedure, description=Phenopacket procedure, comment=null, uncommonOntologyItems=null, occurencesFormal=1..*, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[openEHR-EHR-CLUSTER.pp_procedure.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=6, text=code, description=clinical procedure performed on a subject, comment=To be represented as a code and a text label pair. For example: "NCIT::C28743|Punch Biopsy"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[openEHR-EHR-CLUSTER.pp_procedure.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=6, text=body_site, description=Specific body site if unable to represent this as the code., comment=To be represented as a code and a text label pair. For example: "UBERON::0003403|skin of forearm"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_biosample.v0]/items[at0018], code=at0018, itemType=ELEMENT, level=5, text=is_control_sample, description=Whether the sample is being used as a normal control., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_BOOLEAN, bindings=null, values=Assumed value: false, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_gene.v0], code=at0000, itemType=CLUSTER, level=4, text=Gene, description=Phenopacket gene, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_gene.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=gene symbol, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0], code=at0000, itemType=CLUSTER, level=4, text=Variant, description=This archetype should be used to describe candidate variants or diagnosed causative variants. There is currently no standard variant nomenclature that can represent all kinds of genetic variation that is relevant to human medicine, science, and model organisms. Therefore, we represent variants using the keyword oneof, which is used in protobuf for an item with many optional fields where at most one field will be set at the same time. Variant messages contain an allele and the zygosity of the allele. Alleles can be listed using HGVS, VCF, SPDI or ISCN notation. The phenopacket schema will implement the GA4GH Variation Representation Specification once that is mature. The VR-Spec will be the recommended option in some settings. See: https://vr-spec.readthedocs.io/en/1.0rc/ See: https://github.com/ga4gh-beacon/specification/blob/master/beacon.yaml The Variant element itself is an optional element of a Phenopacket or Biosample. If it is present, the Phenopacket standard has the following requirements. Alleles can refer to external sources, for example the ClinGen allele registry, ClinVar, dbSNP, dbVAR etc. using the id field. It is RECOMMENDED to use a CURIE identifier and corresponding Resource. N.B. phase information for alleles are not represented in this model., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_hgvsallele.v0], code=at0000, itemType=CLUSTER, level=5, text=HgvsAllele, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=1..4, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_hgvsallele.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=6, text=id, description=An arbitrary identifier., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_hgvsallele.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=6, text=hgvs, description=*, comment=For example: NM_000226.3:c.470T>G., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_iscnallele.v0], code=at0000, itemType=CLUSTER, level=5, text=IscnAllele, description=IscnAllele, comment=null, uncommonOntologyItems=null, occurencesFormal=1..4, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_iscnallele.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=6, text=id, description=An arbitrary identifier., comment=For example: ""ISCN:12345"", uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_iscnallele.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=6, text=iscn, description=*, comment=For example: "t(8;9;11)(q12;p24;p12)"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0], code=at0000, itemType=CLUSTER, level=5, text=SpdiAllele, description=SpdiAllele, comment=null, uncommonOntologyItems=null, occurencesFormal=1..4, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=6, text=id, description=An arbitrary identifier., comment=For example: "clinvar:13294"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=6, text=seq_id, description=*, comment=For example: "NC_000001.10"., uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=6, text=position, description=*, comment=For example: "12346"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=6, text=deleted_sequence, description=*, comment=For example: "A"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_spdiallele.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=6, text=inserted_sequence, description=*, comment=For example: "G"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0], code=at0000, itemType=CLUSTER, level=5, text=VcfAllele, description=null, comment=null, uncommonOntologyItems=null, occurencesFormal=1..4, occurencesText=Mandatory, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=6, text=genome_assembly, description=*, comment=For example: "GRCh38"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=6, text=id, description=An arbitrary identifier., comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=6, text=chr, description=*, comment=For example: "2"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=6, text=pos, description=*, comment=For example: "134327882"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=6, text=re, description=*, comment=For example: "A"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=6, text=alt, description=*, comment=For example: "C" or "<DUP>"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[openEHR-EHR-CLUSTER.pp_vcfallele.v0]/items[at0007], code=at0007, itemType=ELEMENT, level=6, text=info, description=*, comment=For example: "END=43500;SVTYPE=DUP;CHR2=1;SVLEN=29000;"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=zygosity, description=*, comment=The zygosity of the variant as determined in all of the samples represented in this Phenopacket is represented using a list of terms taken from the Genotype Ontology (GENO). For instance, if a variant affects one of two alleles at a certain locus, we could record the zygosity using the term heterozygous (GENO:0000135)., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_disease.v0], code=at0000, itemType=CLUSTER, level=4, text=Disease, description=Phenopacket disease, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_disease.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=term, description=An coded term that represents the disease., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_disease.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=onset, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  DurationUnits:
    • Year
    • Month
    • Day
  •  Coded Texttermset: external
  •  Interval of DurationLower constraint: Units:
    • Year
    • Month
    • Day

    Upper constraint: Units:
    • Year
    • Month
    • Day
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_disease.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=5, text=tumor_stage, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_htsfile.v0], code=at0000, itemType=CLUSTER, level=4, text=HtsFile, description=Phenopacket HtsFile, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=uri, description=A valid URI., comment=For example: "file://data/genomes/germline_wgs.vcf.gz"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=description, description=Arbitrary description of the file, comment=For example; "Matched normal germline sample"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=5, text=hts_format, description=*, comment=For example: "VCF"., uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=
  • UNKNOWN  [An HTS file of unknown type.]
  • SAM  [A SAM format file.]
  • BAM  [A BAM format file.]
  • CRAM  [A CRAM format file.]
  • VCF  [A VCF format file.]
  • BCF  [A BCF format file.]
  • GVCF  [A GVCF format file.]
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0011], code=at0011, itemType=ELEMENT, level=5, text=genome_assembly, description=*, comment=For example: "GRCh38"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0012], code=at0012, itemType=ELEMENT, level=5, text=individual_identifier, description=The Individual.id component required for mapping between the Individual.id or Biosample.id to the sample identifier in the HTS file., comment=For example: "patient23456"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0013], code=at0013, itemType=ELEMENT, level=5, text=sample_identifier, description=The Biosample.id component required for mapping between the Individual.id or Biosample.id to the sample identifier in the HTS file., comment=For example: "NA12345"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0], code=at0000, itemType=CLUSTER, level=4, text=MetaData, description=Phenopacket MetaData, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=created, description=Representation of the time when this object was created., comment=For example: "2019-04-01T15:10:17.808Z"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_DATE_TIME, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=created by, description=Name of person who created the phenopacket., comment=This is a string that represents an identifier for the contributor/ program. The expected syntax and semantics are application-dependent., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=5, text=submitted by, description=Name of person who submitted the phenopacket., comment=This is a string that represents an identifier for the person who submitted the phenopacket (who may not be the person who created the phenopacket)., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0], code=at0000, itemType=CLUSTER, level=5, text=Resource, description=Phenopacket resource, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=6, text=id, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=6, text=name, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=6, text=namespace_prefix, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=6, text=url, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_URI, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=6, text=version, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=6, text=iri-prefix, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_update.v0], code=at0000, itemType=CLUSTER, level=5, text=Update, description=Phenopacket update, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_update.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=6, text=timestamp, description=ISO8601 UTC timestamp at which this record was updated, comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_DATE_TIME, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_update.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=6, text=updated_by, description=Information about the person/organisation/network that has updated the phenopacket., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_update.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=6, text=comment, description=Textual comment about the changes made to the content and/or reason for the update., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=5, text=phenopacket_schema_version, description=Schema version of the current phenopacket., comment=A string representing the version of the phenopacket-schema according to which a phenopacket was made., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_external_reference.v0], code=at0000, itemType=CLUSTER, level=5, text=External reference, description=Phenopacket external reference, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_external_reference.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=6, text=id, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_external_reference.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=6, text=description, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_pedigree.v0], code=at0000, itemType=CLUSTER, level=3, text=Pedigree, description=Phenopackets pedigree, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_pedigree.v0]/items[openEHR-EHR-CLUSTER.pp_person.v0], code=at0000, itemType=CLUSTER, level=4, text=Person, description=Phenopackets person, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_pedigree.v0]/items[openEHR-EHR-CLUSTER.pp_person.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=family_id, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_pedigree.v0]/items[openEHR-EHR-CLUSTER.pp_person.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=individual_id, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_pedigree.v0]/items[openEHR-EHR-CLUSTER.pp_person.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=5, text=paternal_id, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_pedigree.v0]/items[openEHR-EHR-CLUSTER.pp_person.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=5, text=maternal_id, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_pedigree.v0]/items[openEHR-EHR-CLUSTER.pp_person.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=5, text=sex, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_ORDINAL, bindings=null, values=
  • 0: UNKNOWN_SEX  [Not assessed or not available. Maps to NCIT:C17998]
  • 1: FEMALE  [female sex. Maps to NCIT:C46113]
  • 2: MALE  [male sex. Maps to NCIT:C46112]
  • 3: OTHER_SEX  [It is not possible to accurately assess the applicability of MALE/FEMALE. Maps to NCIT:C45908]
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_pedigree.v0]/items[openEHR-EHR-CLUSTER.pp_person.v0]/items[at0010], code=at0010, itemType=ELEMENT, level=5, text=affected_status, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=
  • MISSING  [It is unknown if the individual has the affected phenotype.]
  • UNAFFECTED  [The individual does not show the affected phenotype of the proband.]
  • AFFECTED  [The individual has the affected phenotype of the proband.]
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0], code=at0000, itemType=CLUSTER, level=3, text=HtsFile, description=Phenopacket HtsFile, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=4, text=uri, description=A valid URI., comment=For example: "file://data/genomes/germline_wgs.vcf.gz"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=4, text=description, description=Arbitrary description of the file, comment=For example; "Matched normal germline sample"., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=4, text=hts_format, description=*, comment=For example: "VCF"., uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=
  • UNKNOWN  [An HTS file of unknown type.]
  • SAM  [A SAM format file.]
  • BAM  [A BAM format file.]
  • CRAM  [A CRAM format file.]
  • VCF  [A VCF format file.]
  • BCF  [A BCF format file.]
  • GVCF  [A GVCF format file.]
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The expected syntax and semantics are application-dependent., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=4, text=submitted by, description=Name of person who submitted the phenopacket., comment=This is a string that represents an identifier for the person who submitted the phenopacket (who may not be the person who created the phenopacket)., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0], code=at0000, itemType=CLUSTER, level=4, text=Resource, description=Phenopacket resource, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=id, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=name, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=5, text=namespace_prefix, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=5, text=url, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_URI, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=5, text=version, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=5, text=iri-prefix, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_update.v0], code=at0000, itemType=CLUSTER, level=4, text=Update, description=Phenopacket update, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_update.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=timestamp, description=ISO8601 UTC timestamp at which this record was updated, comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_DATE_TIME, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_update.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=updated_by, description=Information about the person/organisation/network that has updated the phenopacket., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_update.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=5, text=comment, description=Textual comment about the changes made to the content and/or reason for the update., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=4, text=phenopacket_schema_version, description=Schema version of the current phenopacket., comment=A string representing the version of the phenopacket-schema according to which a phenopacket was made., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_external_reference.v0], code=at0000, itemType=CLUSTER, level=4, text=External reference, description=Phenopacket external reference, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_external_reference.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=id, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_external_reference.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=description, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_diagnosis.v0], code=at0000, itemType=CLUSTER, level=2, text=Diagnosis, description=Phenopacket diagnosis, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_diagnosis.v0]/items[openEHR-EHR-CLUSTER.pp_disease.v0], code=at0000, itemType=CLUSTER, level=3, text=Disease, description=Phenopacket disease, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_diagnosis.v0]/items[openEHR-EHR-CLUSTER.pp_disease.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=4, text=term, description=An coded term that represents the disease., comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_diagnosis.v0]/items[openEHR-EHR-CLUSTER.pp_disease.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=4, text=onset, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CHOICE, bindings=null, values=
  •  DurationUnits:
    • Year
    • Month
    • Day
  •  Coded Texttermset: external
  •  Interval of DurationLower constraint: Units:
    • Year
    • Month
    • Day

    Upper constraint: Units:
    • Year
    • Month
    • Day
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_diagnosis.v0]/items[openEHR-EHR-CLUSTER.pp_disease.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=4, text=tumor_stage, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_diagnosis.v0]/items[openEHR-EHR-CLUSTER.pp_genomic_interpretation.v0], code=at0000, itemType=CLUSTER, level=3, text=Genomic interpretation, description=Phenopacket genomic interpretations, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_diagnosis.v0]/items[openEHR-EHR-CLUSTER.pp_genomic_interpretation.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=4, text=GenomicInterpretation Status, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_ORDINAL, bindings=null, values=
  • 0: UNKNOWN  [It is not known how this genomic element contributes to the diagnosis.]
  • 1: REJECTED  [The genomic element has been investigated and ruled-out.]
  • 2: CANDIDATE  [The genomic element is under investigation.]
  • 2: CAUSATIVE  [The genomic element has been judged to be contributing to the diagnosis.]
, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_diagnosis.v0]/items[openEHR-EHR-CLUSTER.pp_genomic_interpretation.v0]/items[openEHR-EHR-CLUSTER.pp_gene.v0], code=at0000, itemType=CLUSTER, level=4, text=Gene, description=Phenopacket gene, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_diagnosis.v0]/items[openEHR-EHR-CLUSTER.pp_genomic_interpretation.v0]/items[openEHR-EHR-CLUSTER.pp_gene.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=5, text=gene symbol, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_diagnosis.v0]/items[openEHR-EHR-CLUSTER.pp_genomic_interpretation.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0], code=at0000, itemType=CLUSTER, level=4, text=Variant, description=This archetype should be used to describe candidate variants or diagnosed causative variants. There is currently no standard variant nomenclature that can represent all kinds of genetic variation that is relevant to human medicine, science, and model organisms. Therefore, we represent variants using the keyword oneof, which is used in protobuf for an item with many optional fields where at most one field will be set at the same time. Variant messages contain an allele and the zygosity of the allele. Alleles can be listed using HGVS, VCF, SPDI or ISCN notation. The phenopacket schema will implement the GA4GH Variation Representation Specification once that is mature. The VR-Spec will be the recommended option in some settings. See: https://vr-spec.readthedocs.io/en/1.0rc/ See: https://github.com/ga4gh-beacon/specification/blob/master/beacon.yaml The Variant element itself is an optional element of a Phenopacket or Biosample. If it is present, the Phenopacket standard has the following requirements. Alleles can refer to external sources, for example the ClinGen allele registry, ClinVar, dbSNP, dbVAR etc. using the id field. It is RECOMMENDED to use a CURIE identifier and corresponding Resource. N.B. phase information for alleles are not represented in this model., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_diagnosis.v0]/items[openEHR-EHR-CLUSTER.pp_genomic_interpretation.v0]/items[openEHR-EHR-CLUSTER.pp_variant.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=5, text=zygosity, description=*, comment=The zygosity of the variant as determined in all of the samples represented in this Phenopacket is represented using a list of terms taken from the Genotype Ontology (GENO). For instance, if a variant affects one of two alleles at a certain locus, we could record the zygosity using the term heterozygous (GENO:0000135)., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=null, values=termset: external, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_metadata.v0], code=at0000, itemType=CLUSTER, level=2, text=MetaData, description=Phenopacket MetaData, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=3, text=created, description=Representation of the time when this object was created., comment=For example: "2019-04-01T15:10:17.808Z"., uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_DATE_TIME, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=3, text=created by, description=Name of person who created the phenopacket., comment=This is a string that represents an identifier for the contributor/ program. The expected syntax and semantics are application-dependent., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=3, text=submitted by, description=Name of person who submitted the phenopacket., comment=This is a string that represents an identifier for the person who submitted the phenopacket (who may not be the person who created the phenopacket)., 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0], code=at0000, itemType=CLUSTER, level=3, text=Resource, description=Phenopacket resource, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=4, text=id, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_IDENTIFIER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=4, text=name, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=4, text=namespace_prefix, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=4, text=url, description=*, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_URI, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=4, text=version, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=4, text=iri-prefix, description=*, 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-EVALUATION.pp_interpretation.v0]/data[at0001]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_update.v0], code=at0000, itemType=CLUSTER, level=3, text=Update, description=Phenopacket update, comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, 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