<status value="draft" /> <date value="2019-12-20T18:15:04+00:00" /> <publisher value="Global Alliance for Genomics and Health" /> <contact> <telecom> <system value="other" /> <value value="http://ga4gh.org" /> <rank value="1" /> </telecom> </contact> <description value="Phenopackets can be used to hold phenotypic information that can inform the analysis of sequencing data in VCF format as well as other high-throughput sequencing (HTS) or other data types." /> <fhirVersion value="4.0.1" /> <mapping> <identity value="workflow" /> <uri value="http://hl7.org/fhir/workflow" /> <name value="Workflow Pattern" /> </mapping> <mapping> <identity value="fhircomposition" /> <uri value="http://hl7.org/fhir/composition" /> <name value="FHIR Composition" /> </mapping> <mapping> <identity value="rim" /> <uri value="http://hl7.org/v3" /> <name value="RIM Mapping" /> </mapping> <mapping> <identity value="cda" /> <uri value="http://hl7.org/v3/cda" /> <name value="CDA (R2)" /> </mapping> <mapping> <identity value="w5" /> <uri value="http://hl7.org/fhir/fivews" /> <name value="FiveWs Pattern Mapping" /> </mapping> <mapping> <identity value="v2" /> <uri value="http://hl7.org/v2" /> <name value="HL7 v2 Mapping" /> </mapping> <mapping> <identity value="xds" /> <uri value="http://ihe.net/xds" /> <name value="XDS metadata equivalent" /> </mapping> <kind value="resource" /> <abstract value="false" /> <type value="DocumentReference" /> <baseDefinition value="http://hl7.org/fhir/StructureDefinition/DocumentReference" /> <derivation value="constraint" /> <snapshot /> <differential> <element id="DocumentReference"> <path value="DocumentReference" /> </element> <element id="DocumentReference.extension"> <path value="DocumentReference.extension" /> <slicing> <discriminator> <type value="value" /> <path value="url" /> </discriminator> <ordered value="false" /> <rules value="open" /> </slicing> </element> <element id="DocumentReference.extension:genomeAssembly"> <path value="DocumentReference.extension" /> <sliceName value="genomeAssembly" /> <sliceIsConstraining value="false" /> <label value="genomeAssembly" /> <short value="The genome assembly the contents of this file was called against." /> <definition value="The genome assembly the contents of this file was called against. We recommend using the Genome Reference Consortium nomenclature e.g. GRCh37, GRCh38." /> <min value="1" /> <max value="1" /> <type> <code value="Extension" /> <profile value="http://ga4gh.org/fhir/phenopackets/StructureDefinition/htsfile-genome-assembly" /> </type> <mustSupport value="true" /> <isModifier value="false" /> </element> <element id="DocumentReference.status"> <path value="DocumentReference.status" /> <fixedCode value="current" /> <mustSupport value="true" /> </element> <element id="DocumentReference.type"> <path value="DocumentReference.type" /> <label value="htsFormat" /> <requirements value="The high throughput sequencing file formats are not available in LOINC." /> <min value="1" /> <mustSupport value="true" /> <binding> <strength value="required" /> <description value="This indicates which format the file has." /> <valueSet value="http://ga4gh.org/fhir/phenopackets/ValueSet/hts-format" /> </binding> </element> <element id="DocumentReference.subject"> <path value="DocumentReference.subject" /> <type> <code value="Reference" /> <targetProfile value="http://ga4gh.org/fhir/phenopackets/StructureDefinition/Phenopacket" /> <targetProfile value="http://ga4gh.org/fhir/phenopackets/StructureDefinition/Cohort" /> <targetProfile value="http://ga4gh.org/fhir/phenopackets/StructureDefinition/Family" /> </type> <mustSupport value="true" /> </element> </differential> </StructureDefinition>