Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

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: Phenopackets Genomic Interpretation Example-1 - XML Representation

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<DiagnosticReport xmlns="http://hl7.org/fhir">
  <id value="PhenopacketsGenomicInterpretationExample01"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/phenopackets-genomic-interpretation"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><h2><span title="Codes:{http://loinc 123}">some loinc code</span> (<span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span>) </h2><table class="grid"><tr><td>Subject</td><td><b>John Doe </b> unknown, DoB Unknown ( 04 (use: temp))</td></tr></table><p><b>Report Details</b></p><table class="grid"><tr><td><b>Code</b></td><td><b>Value</b></td></tr><tr><td><a href="Observation-PhenopacketsVariantExample01.html"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td/></tr></table><p>The detected variant is Likely-Pathogenic of Pfeiffer syndrome</p><p><b>Coded Conclusions:</b></p><ul><li><span title="Codes:{http://snomed.info/sct 70410008}">Acrocephalosyndactyly type V (disorder)</span></li></ul></div>
  </text>
  <modifierExtension
                     url="http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/interpretation-status">
    <valueCodeableConcept>
      <coding>
        <system
                value="http://phenopacket-schema.readthedocs.io/en/v2/genomic-interpretation.html#interpretationstatus"/>
        <code value="0"/>
        <display value="UNKNOWN_STATUS"/>
      </coding>
    </valueCodeableConcept>
  </modifierExtension>
  <status value="unknown"/>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
      <display value="Genetics"/>
    </coding>
  </category>
  <code>
    <coding>
      <system value="http://loinc"/>
      <code value="123"/>
      <display value="some loinc code"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/phenopacketPatientExample01"/>
  </subject>
  <specimen>🔗 
    <reference value="Specimen/phenopacketSpecimenExample01"/>
  </specimen>
  <result>🔗 
    <reference value="Observation/PhenopacketsVariantExample01"/>
  </result>
  <conclusion
              value="The detected variant is Likely-Pathogenic of Pfeiffer syndrome"/>
  <conclusionCode>
    <coding>
      <system value="http://snomed.info/sct"/>
      <code value="70410008"/>
      <display value="Acrocephalosyndactyly type V (disorder)"/>
    </coding>
  </conclusionCode>
</DiagnosticReport>