FHIR CI-Build

This is the Continuous Integration Build of FHIR (will be incorrect/inconsistent at times).
See the Directory of published versions

Example MolecularDefinition/example-sequence-fmr1-cgg-20x-edited-referenced (XML)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: No defined compartments

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

Example of Sequence profile of FMR1 using CGG motifs edited by external referenced sequence resources (id = "example-sequence-fmr1-cgg-20x-edited-referenced")

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

<MolecularDefinition xmlns="http://hl7.org/fhir">
  <id value="example-sequence-fmr1-cgg-20x-edited-referenced"/> 
  <meta> 
    <profile value="http://hl7.org/fhir/StructureDefinition/sequence"/> 
  </meta> 
  <type value="dna"/> 
  <representation> 
    <relative> 
      <startingMolecule> 
        <reference value="MolecularDefinition/example-sequence-fmr1-cgg-20x-repeat"/> 
        <type value="MolecularDefinition"/> 
        <display value="CGG 20X"/> 
      </startingMolecule> 
      <edit> 
        <coordinateSystem> 
          <coding> 
            <system value="http://loinc.org"/> 
            <code value="LA30102-0"/> 
            <display value="1-based character counting"/> 
          </coding> 
        </coordinateSystem> 
        <start value="31"/> 
        <end value="31"/> 
        <replacementMolecule> 
          <reference value="MolecularDefinition/example-sequence-a"/> 
          <type value="MolecularDefinition"/> 
          <display value="A"/> 
        </replacementMolecule> 
        <replacedMolecule> 
          <reference value="MolecularDefinition/example-sequence-c"/> 
          <type value="MolecularDefinition"/> 
          <display value="C"/> 
        </replacedMolecule> 
      </edit> 
    </relative> 
  </representation> 
</MolecularDefinition> 

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.