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

: PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale"/>
  <meta>
    <versionId value="1"/>
    <lastUpdated value="2024-10-02T03:41:34.767+00:00"/>
    <source value="#JVN7S7CW0og8nwN0"/>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"/>
  </meta>
  <text>
    <status value="extensions"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale</b></p><a name="PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale"> </a><a name="hcPrenatalDiagImpPrimaryHyperoxaluriaPatientFemale"> </a><a name="PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale-en-US"> </a><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px">version: 1; Last updated: 2024-10-02 03:41:34+0000; </p><p style="margin-bottom: 0px">Information Source: #JVN7S7CW0og8nwN0</p><p style="margin-bottom: 0px">Profile: <a href="http://hl7.org/fhir/uv/genomics-reporting/2024Jan/StructureDefinition-diagnostic-implication.html">Diagnostic Implication</a></p></div><p><b>Genomic Risk Assessment</b>: <a href="RiskAssessment-PrenatalResidualRiskPrimaryHyperoxaluriaPatientFemale.html">primary hyperoxaluria type 1 Residual Risk</a></p><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></p><p><b>subject</b>: <a href="Patient-PatientFemale.html">Jenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6 (use: official, ))</a></p><p><b>effective</b>: 2024-06-26</p><p><b>performer</b>: <a href="Practitioner-PractitionerLabDirector.html">Practitioner PractitionerJane Smith </a></p><p><b>derivedFrom</b>: <a href="Observation-PrenatalVariantPrimaryHyperoxaluriaPatientFemale.html">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81259-4}">Associated phenotype</span></p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 312969002}">Normal genetic findings (finding)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81259-4}">Associated phenotype</span></p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 65520001}">Primary hyperoxaluria, type I</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs condition-inheritance}">Condition Inheritance</span></p><p><b>value</b>: <span title="Codes:">Autosomal recessive inheritance</span></p></blockquote></div>
  </text>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment">
    <valueReference>🔗 
      <reference
                 value="RiskAssessment/PrenatalResidualRiskPrimaryHyperoxaluriaPatientFemale"/>
      <display value="primary hyperoxaluria type 1 Residual Risk"/>
    </valueReference>
  </extension>
  <status value="final"/>
  <category>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
    </coding>
  </category>
  <code>
    <coding>
      <system
              value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
      <code value="diagnostic-implication"/>
      <display value="Diagnostic Implication"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/PatientFemale"/>
  </subject>
  <effectiveDateTime value="2024-06-26"/>
  <performer>🔗 
    <reference value="Practitioner/PractitionerLabDirector"/>
  </performer>
  <derivedFrom>🔗 
    <reference
               value="Observation/PrenatalVariantPrimaryHyperoxaluriaPatientFemale"/>
  </derivedFrom>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="81259-4"/>
        <display value="Associated phenotype"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://snomed.info/sct"/>
        <code value="312969002"/>
        <display value="Normal genetic findings (finding)"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="81259-4"/>
        <display value="Associated phenotype"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://snomed.info/sct"/>
        <code value="65520001"/>
        <display value="Primary hyperoxaluria, type I"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
        <code value="condition-inheritance"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <code value="HP:0000007"/>
        <display value="Autosomal recessive inheritance"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>