Phenomics Exchange for Research and Diagnostics
0.1.0 - ci-build International flag

Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

: Phenopacket (static snapshot of clinical findings to support differential diagnosis of a child with developmental delay). - XML Representation

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<Composition xmlns="http://hl7.org/fhir">
  <id value="DevelopmentalDelay"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/Phenopacket"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative: Composition </b><a name="DevelopmentalDelay"> </a><a name="hcDevelopmentalDelay"> </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">ResourceComposition &quot;DevelopmentalDelay&quot; </p><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-Phenopacket.html">Phenopacket profile</a></p></div><p><b>identifier</b>: id.treatment.1</p><p><b>status</b>: preliminary</p><p><b>type</b>: Physician Episode of care medical records <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#11516-2)</span></p><p><b>date</b>: 2018-03-16</p><p><b>author</b>: <a href="Practitioner-PeterGeneticist.html">Practitioner/PeterGeneticist</a> &quot; GENETICIST&quot;</p><p><b>title</b>: Phenopacket (static snapshot of clinical findings to support differential diagnosis of a child with developmental delay).</p></div>
  </text>
  <identifier>
    <value value="id.treatment.1"/>
  </identifier>
  <status value="preliminary"/>
  <type>
    <coding>
      <system value="http://loinc.org"/>
      <code value="11516-2"/>
      <display value="Physician Episode of care medical records"/>
    </coding>
  </type>
  <subject>🔗 
    <reference value="Patient/Proband1"/>
  </subject>
  <date value="2018-03-16"/>
  <author>🔗 
    <reference value="Practitioner/PeterGeneticist"/>
  </author>
  <title
         value="Phenopacket (static snapshot of clinical findings to support differential diagnosis of a child with developmental delay)."/>
  <section>
    <code>
      <coding>
        <system
                value="http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/section-type"/>
        <code value="phenotypic_features"/>
      </coding>
    </code>
    <entry>🔗 
      <reference value="Observation/longPhiltrum"/>
    </entry>
    <entry>🔗 
      <reference value="Observation/microphthalmia"/>
    </entry>
    <entry>🔗 
      <reference value="Observation/retinalDetachment"/>
    </entry>
    <entry>🔗 
      <reference value="Observation/tga"/>
    </entry>
    <entry>🔗 
      <reference value="Observation/reducedVisualAcuity"/>
    </entry>
    <entry>🔗 
      <reference value="Observation/lowSetEars"/>
    </entry>
    <entry>🔗 
      <reference value="Observation/globalDevelopmentalDelay"/>
    </entry>
    <entry>🔗 
      <reference value="Observation/muscleWeakness"/>
    </entry>
    <entry>🔗 
      <reference value="Observation/hypotonia"/>
    </entry>
    <entry>🔗 
      <reference value="Observation/amyotrophy"/>
    </entry>
    <entry>🔗 
      <reference value="Observation/hp.0003557"/>
    </entry>
  </section>
  <section>
    <code>
      <coding>
        <system
                value="http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/section-type"/>
        <code value="biosamples"/>
      </coding>
    </code>
    <entry>🔗 
      <reference value="Specimen/biosample.specimen.id.2"/>
    </entry>
  </section>
  <section>
    <code>
      <coding>
        <system
                value="http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/section-type"/>
        <code value="diseases"/>
      </coding>
    </code>
    <entry>🔗 
      <reference value="Condition/intellectualDisabilityDisease"/>
    </entry>
  </section>
</Composition>