R5 Final QA

This page is part of the FHIR Specification (v5.0.0-draft-final: Final QA Preview for R5 - see ballot notes). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4

Example MolecularSequence/breastcancer (XML)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: Patient

Raw XML (canonical form + also see XML Format Specification)

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MolecularSequence example for patient with breast cancer gene variant (id = "breastcancer")

<?xml version="1.0" encoding="UTF-8"?>

<MolecularSequence xmlns="http://hl7.org/fhir">
    <id value="breastcancer"/> 
    <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p> <b> Generated Narrative: MolecularSequence</b> <a name="breastcancer"> </a> </p> <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">Resource MolecularSequence &quot;breastcancer&quot; </p> </div> <p> <b> type</b> : rna</p> <p> <b> subject</b> : <a href="broken-link.html">Patient/brcapat</a> </p> <blockquote> <p> <b> relative</b> </p> <p> <b> coordinateSystem</b> : 0-based interval counting <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a> #LA30100-4)</span> </p> <h3> StartingSequences</h3> <table class="grid"><tr> <td> -</td> <td> <b> Sequence[x]</b> </td> <td> <b> WindowStart</b> </td> <td> <b> WindowEnd</b> </td> </tr> <tr> <td> *</td> <td> Homo sapiens BRCA2, DNA repair associated (BRCA2), mRNA <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (#NM_000059.3)</span> </td> <td> 101488058</td> <td> 101499444</td> </tr> </table> <h3> Edits</h3> <table class="grid"><tr> <td> -</td> <td> <b> Start</b> </td> <td> <b> End</b> </td> <td> <b> ReplacementSequence</b> </td> <td> <b> ReplacedSequence</b> </td> </tr> <tr> <td> *</td> <td> 32316186</td> <td> 32316187</td> <td> A</td> <td> C</td> </tr> </table> </blockquote> </div> </text> <type value="rna"/>  
  <subject> 
        <reference value="Patient/brcapat"/> 
    </subject> 
    <relative> 
        <coordinateSystem> 
            <coding> 
                <system value="http://loinc.org"/> 
                <code value="LA30100-4"/> 
                <display value="0-based interval counting"/> 
            </coding> 
        </coordinateSystem> 
        <startingSequence> 
            <sequenceCodeableConcept> 
                <coding> 
                    <system value="http://www.ncbi.nlm.nih.gov/nuccore/"/> 
                    <code value="NM_000059.3"/> 
                    <display value="Homo sapiens BRCA2, DNA repair associated (BRCA2), mRNA"/> 
                </coding> 
            </sequenceCodeableConcept> 
            <windowStart value="101488058"/> 
            <windowEnd value="101499444"/> 
        </startingSequence> 
        <edit> 
            <start value="32316186"/> 
            <end value="32316187"/> 
            <replacementSequence value="A"/> 
            <replacedSequence value="C"/> 
        </edit> 
    </relative> 
</MolecularSequence> 

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.