Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

## : ATR-insertion-significance - XML Representation

Page standards status: Informative

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    <Observation xmlns="http://hl7.org/fhir">
      <id value="ATR-insertion-significance"/>
      <meta>
        <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 ATR-insertion-significance</b></p><a name="ATR-insertion-significance"> </a><a name="hcATR-insertion-significance"> </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"/><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-diagnostic-implication.html">Diagnostic Implication</a></p></div><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-somaticPatient.html">Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --&gt; (ongoing)))</a></p><p><b>effective</b>: 2023-02-01</p><p><b>performer</b>: <a href="Practitioner-pathologistPractitioner.html">Practitioner Test Dolin </a></p><p><b>derivedFrom</b>: <a href="Observation-ATR-insertion-var.html">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA26332-9}">Likely Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>Related artifact</b>: No display for RelatedArtifact  (type: citation; url: https://www.jmdjournal.org/cms/attachment/ee43a71b-81de-4cb3-ac5e-2fb9a7d41491/gr2.jpg)</p><p><b>code</b>: <span title="Codes:{http://loinc.org 93044-6}">Level of evidence</span></p><p><b>value</b>: <span title="Codes:">Tier 2C</span></p></blockquote><blockquote><p><b>component</b></p><p><b>Related artifact</b>: No display for RelatedArtifact  (type: citation; url: https://www.ncbi.nlm.nih.gov/gene/545#:~:text=ATR%20may%20function%20as%20an,radiation%20when%20ATM%20is%20deficient)</p><p><b>code</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs conclusion-string}">Conclusion Text</span></p><p><b>value</b>: The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved ... more</p></blockquote></div>
      </text>
      <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/somaticPatient"/>
      </subject>
      <effectiveDateTime value="2023-02-01"/>
      <performer>🔗
        <reference value="Practitioner/pathologistPractitioner"/>
      </performer>
      <derivedFrom>🔗
        <reference value="Observation/ATR-insertion-var"/>
      </derivedFrom>
      <component>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="53037-8"/>
            <display value="Genetic variation clinical significance [Imp]"/>
          </coding>
        </code>
        <valueCodeableConcept>
          <coding>
            <system value="http://loinc.org"/>
            <code value="LA26332-9"/>
            <display value="Likely Pathogenic"/>
          </coding>
        </valueCodeableConcept>
      </component>
      <component>
        <extension
                   url="http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact">
          <valueRelatedArtifact>
            <type value="citation"/>
            <url
                 value="https://www.jmdjournal.org/cms/attachment/ee43a71b-81de-4cb3-ac5e-2fb9a7d41491/gr2.jpg"/>
          </valueRelatedArtifact>
        </extension>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="93044-6"/>
            <display value="Level of evidence"/>
          </coding>
        </code>
        <valueCodeableConcept>
          <text value="Tier 2C"/>
        </valueCodeableConcept>
      </component>
      <component>
        <extension
                   url="http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact">
          <valueRelatedArtifact>
            <type value="citation"/>
            <url
                 value="https://www.ncbi.nlm.nih.gov/gene/545#:~:text=ATR%20may%20function%20as%20an,radiation%20when%20ATM%20is%20deficient"/>
          </valueRelatedArtifact>
        </extension>
        <code>
          <coding>
            <system
                    value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
            <code value="conclusion-string"/>
          </coding>
        </code>
        <valueString
                     value="The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved ... more"/>
      </component>
    </Observation>