GenomeX Data Exchange FHIR IG
0.2.0 - draft

GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions

: PrenatalGenomicReportPatientFemale - XML Representation

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<DiagnosticReport xmlns="http://hl7.org/fhir">
  <id value="PrenatalGenomicReportPatientFemale"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: DiagnosticReport PrenatalGenomicReportPatientFemale</b></p><a name="PrenatalGenomicReportPatientFemale"> </a><a name="hcPrenatalGenomicReportPatientFemale"> </a><a name="PrenatalGenomicReportPatientFemale-en-US"> </a><h2><span title="Codes:{http://loinc.org 51969-4}">Genetic analysis report</span> (<span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span>) </h2><table class="grid"><tr><td>Subject</td><td>Jenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6 (use: official, ))</td></tr><tr><td>When For</td><td>2024-06-26</td></tr><tr><td>Performers</td><td> <a href="Organization-Organization.html">Organization Generic Laboratories, Inc.</a> <a href="Practitioner-PractitionerLabDirector.html">Practitioner PractitionerJane Smith </a></td></tr></table><p><b>Report Details</b></p><table class="grid"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Note</b></td></tr><tr><td><a href="Observation-PrenatalVariantFactorXiDeficiencyPatientFemale.html"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes:{http://loinc.org LA9634-2}">Absent</span></td><td>Final</td><td/></tr><tr><td><a href="Observation-PrenatalVariantGlycogenStorageDiseaseTypePatientFemale.html"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes:{http://loinc.org LA9634-2}">Absent</span></td><td>Final</td><td/></tr><tr><td><a href="Observation-PrenatalVariant1SNPHereditaryHemochromatoPatientFemale.html"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes:{http://loinc.org LA9633-4}">Present</span></td><td>Final</td><td/></tr><tr><td><a href="Observation-PrenatalVariant2SNPHereditaryHemochromatoPatientFemale.html"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes:{http://loinc.org LA9633-4}">Present</span></td><td>Final</td><td/></tr><tr><td><a href="Observation-PrenatalVariantPrimaryHyperoxaluriaPatientFemale.html"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes:{http://loinc.org LA9634-2}">Absent</span></td><td>Final</td><td/></tr><tr><td><a href="Observation-PrenatalVariant1FragileXSyndromePatientFemale.html"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes:{http://loinc.org LA9633-4}">Present</span></td><td>Final</td><td/></tr><tr><td><a href="Observation-PrenatalVariant2FragileXSyndromePatientFemale.html"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes:{http://loinc.org LA9633-4}">Present</span></td><td>Final</td><td/></tr><tr><td><a href="Observation-PrenatalDiagImpFactorXiDeficiencyPatientFemale.html"><span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td>Final</td><td/></tr><tr><td><a href="Observation-PrenatalDiagImpGlycogenStorageDiseasePatientFemale.html"><span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td>Final</td><td/></tr><tr><td><a href="Observation-PrenatalDiagImpHereditaryHemochromatoPatientFemale.html"><span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td>Final</td><td>Risk not calculated for HFE-associated hereditary hemochromatosis</td></tr><tr><td><a href="Observation-PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale.html"><span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td>Final</td><td/></tr><tr><td><a href="Observation-PrenatalDiagImpFragileXSyndromePatientFemale.html"><span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td>Final</td><td>Risk not calculated for fragile X syndrome</td></tr></table><p>Subject's offspring are at increased risk for inheriting the following genetic diseases: HFE-associated hereditary hemochromatosis, and fragile X syndrome</p><p><b>Coded Conclusions:</b></p><ul><li><span title="Codes:{http://loinc.org LA6576-8}">Positive</span></li></ul></div>
  </text>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference">
    <valueReference>🔗 
      <reference value="Procedure/PrenatalGenomicStudyPatientFemale"/>
      <display value="Genomic study"/>
    </valueReference>
  </extension>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment">
    <valueReference>🔗 
      <reference
                 value="RiskAssessment/PrenatalResidualRiskFactorXiDeficiencyPatientFemale"/>
      <display value="Genomic study"/>
    </valueReference>
  </extension>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment">
    <valueReference>🔗 
      <reference
                 value="RiskAssessment/PrenatalResidualRiskGlycogenStorageDiseasePatientFemale"/>
      <display value="Genomic study"/>
    </valueReference>
  </extension>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment">
    <valueReference>🔗 
      <reference
                 value="RiskAssessment/PrenatalResidualRiskPrimaryHyperoxaluriaPatientFemale"/>
      <display value="Genomic study"/>
    </valueReference>
  </extension>
  <basedOn>🔗 
    <reference value="ServiceRequest/PrenatalServiceRequestCouple"/>
  </basedOn>
  <status value="final"/>
  <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.org"/>
      <code value="51969-4"/>
      <display value="Genetic analysis report"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/PatientFemale"/>
  </subject>
  <effectiveDateTime value="2024-06-26"/>
  <performer>🔗 
    <reference value="Organization/Organization"/>
  </performer>
  <performer>🔗 
    <reference value="Practitioner/PractitionerLabDirector"/>
  </performer>
  <specimen>🔗 
    <reference value="Specimen/PrenatalSpecimenPatientFemale"/>
  </specimen>
  <result>🔗 
    <reference
               value="Observation/PrenatalVariantFactorXiDeficiencyPatientFemale"/>
  </result>
  <result>🔗 
    <reference
               value="Observation/PrenatalVariantGlycogenStorageDiseaseTypePatientFemale"/>
  </result>
  <result>🔗 
    <reference
               value="Observation/PrenatalVariant1SNPHereditaryHemochromatoPatientFemale"/>
  </result>
  <result>🔗 
    <reference
               value="Observation/PrenatalVariant2SNPHereditaryHemochromatoPatientFemale"/>
  </result>
  <result>🔗 
    <reference
               value="Observation/PrenatalVariantPrimaryHyperoxaluriaPatientFemale"/>
  </result>
  <result>🔗 
    <reference
               value="Observation/PrenatalVariant1FragileXSyndromePatientFemale"/>
  </result>
  <result>🔗 
    <reference
               value="Observation/PrenatalVariant2FragileXSyndromePatientFemale"/>
  </result>
  <result>🔗 
    <reference
               value="Observation/PrenatalDiagImpFactorXiDeficiencyPatientFemale"/>
    <display value="Normal genetic findings (finding)"/>
  </result>
  <result>🔗 
    <reference
               value="Observation/PrenatalDiagImpGlycogenStorageDiseasePatientFemale"/>
    <display value="Normal genetic findings (finding)"/>
  </result>
  <result>🔗 
    <reference
               value="Observation/PrenatalDiagImpHereditaryHemochromatoPatientFemale"/>
    <display value="Genetic disease (disorder)"/>
  </result>
  <result>🔗 
    <reference
               value="Observation/PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale"/>
    <display value="Normal genetic findings (finding)"/>
  </result>
  <result>🔗 
    <reference
               value="Observation/PrenatalDiagImpFragileXSyndromePatientFemale"/>
    <display value="Genetic disorder carrier (finding)"/>
  </result>
  <conclusion
              value="Subject's offspring are at increased risk for inheriting the following genetic diseases: HFE-associated hereditary hemochromatosis, and fragile X syndrome"/>
  <conclusionCode>
    <coding>
      <system value="http://loinc.org"/>
      <code value="LA6576-8"/>
      <display value="Positive"/>
    </coding>
  </conclusionCode>
</DiagnosticReport>