TEMPLATE Family (abc930db-7740-4591-ad69-950c592b61cb)

TEMPLATE IDabc930db-7740-4591-ad69-950c592b61cb
ConceptFamily
DescriptionPhenotype, sample and pedigree data required for a genomic diagnosis. This element is equivalent to the Genomics England InterpretationRequestRD.
UseIn many cases, genetic diagnostics of Mendelian and other disease is performed on a family basis in order to check for cosegregation of candidate variants with a disease. Usually, one family member is designated as the proband, for instance, a child affected by a genetic disease might be the proband in a family. Genomic diagnostics might involve genome sequencing of the child and his or her parents. In this case, the Family element would include a Phenopacket for the child (proband element). If the parents themselves display phenotypic findings relevant to the analysis, then Phenopackets are included for them (using the relatives element). If the parents do not display any relevant phenotypic findings, then it is not necessary to include Phenopacket elements for them. Instead, their status as unaffected can be recorded with the Pedigree element.
PurposePhenotype, sample and pedigree data required for a genomic diagnosis. This element is equivalent to the Genomics England InterpretationRequestRD.
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 Identifier1013.26.235
AllOperationalTemplate [rootArchetypeId=openEHR-EHR-CLUSTER.pp_family_framework.v0, otherContributors=null, tshis=[ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-CLUSTER.pp_family_framework.v0], code=at0000, itemType=CLUSTER, level=0, text=Family, description=Phenopacket family framework, comment=null, uncommonOntologyItems=null, occurencesFormal=null, occurencesText=null, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=[openEHR-EHR-CLUSTER.pp_family_framework.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=1, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband'], code=at0000, itemType=CLUSTER, level=1, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[at0002], code=at0002, itemType=ELEMENT, level=2, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Proband']/items[at0003], code=at0003, itemType=ELEMENT, level=2, 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-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=2, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=4, 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-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=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-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=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-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=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-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=2, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=4, 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-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=4, 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-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=3, 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-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=2, 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-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=3, 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-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=2, 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-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=3, 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-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=4, 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-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=4, 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-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=3, 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-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=4, 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-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=4, 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-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=3, 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-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=4, 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-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=4, 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-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=4, 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-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=4, 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-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=4, 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-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=3, 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-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=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-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=4, 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-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=4, 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-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=4, 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-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=4, 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-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=4, 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-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=4, 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-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=3, 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-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=2, 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-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=3, 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-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=3, 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-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=3, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative'], code=at0000, itemType=CLUSTER, level=1, text=Relative, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[at0002], code=at0002, itemType=ELEMENT, level=2, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[at0003], code=at0003, itemType=ELEMENT, level=2, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0], code=at0000, itemType=CLUSTER, level=2, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=3, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=3, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=3, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[at0004], code=at0004, itemType=ELEMENT, level=3, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[at0005], code=at0005, itemType=ELEMENT, level=3, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=3, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[openEHR-EHR-CLUSTER.pp_evidence.v0], code=at0000, itemType=CLUSTER, level=3, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_phenotypic_feature.v0]/items[openEHR-EHR-CLUSTER.pp_evidence.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=4, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/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=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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/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=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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/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=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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_phenopacket_framework.v0 and name/value='Relative']/items[openEHR-EHR-CLUSTER.pp_biosample.v0], code=at0000, itemType=CLUSTER, level=2, 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-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[at0002], code=at0002, itemType=ELEMENT, level=3, 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-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[at0003], code=at0003, itemType=ELEMENT, level=3, 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-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[at0004], code=at0004, itemType=ELEMENT, level=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=4, 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-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=4, 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-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=3, 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-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=2, 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-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=3, 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-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=2, 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-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=3, 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-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=4, 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-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=4, 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-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=3, 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-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=4, 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-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=4, 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-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=3, 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-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=4, 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-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=4, 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-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=4, 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-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=4, 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-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=4, 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-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=3, 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-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=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-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=4, 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-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=4, 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-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=4, 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-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=4, 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-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=4, 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-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=4, 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-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=3, 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-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=2, 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-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=3, 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-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=3, 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-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=3, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_pedigree.v0], code=at0000, itemType=CLUSTER, level=1, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_pedigree.v0]/items[openEHR-EHR-CLUSTER.pp_person.v0], code=at0000, itemType=CLUSTER, level=2, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0], code=at0000, itemType=CLUSTER, level=1, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=2, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=2, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=2, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0011], code=at0011, itemType=ELEMENT, level=2, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0012], code=at0012, itemType=ELEMENT, level=2, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_htsfile.v0]/items[at0013], code=at0013, itemType=ELEMENT, level=2, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0], code=at0000, itemType=CLUSTER, level=1, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0001], code=at0001, itemType=ELEMENT, level=2, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0002], code=at0002, itemType=ELEMENT, level=2, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0003], code=at0003, itemType=ELEMENT, level=2, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_resource.v0], code=at0000, itemType=CLUSTER, level=2, 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-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=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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-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=3, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[openEHR-EHR-CLUSTER.pp_update.v0], code=at0000, itemType=CLUSTER, level=2, 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-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=3, 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-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=3, 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-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=3, 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-CLUSTER.pp_family_framework.v0]/items[openEHR-EHR-CLUSTER.pp_metadata.v0]/items[at0006], code=at0006, itemType=ELEMENT, level=2, 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-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=2, 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-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=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-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=3, 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]], templateType=normal]