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
<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>