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: Ferlab.bio ValueSet/mitn-default-hpo - XML Representation

Active as of 2020-08-13

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="mitn-default-hpo"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet mitn-default-hpo</b></p><a name="mitn-default-hpo"> </a><a name="hcmitn-default-hpo"> </a><ul><li>Include these codes as defined in <code>http://purl.obolibrary.org/obo/hp.owl</code><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td><td><b>French (fr)</b></td></tr><tr><td>HP:0003128</td><td>Lactic acidosis</td><td>Acidose lactique</td></tr><tr><td>HP:0001263</td><td>Global developmental delay</td><td>Retard global de développement</td></tr><tr><td>HP:0001290</td><td>Generalized hypotonia</td><td>Hypotonie généralisée</td></tr><tr><td>HP:0001250</td><td>Seizures</td><td>Crise d'épilepsie</td></tr><tr><td>HP:0006965</td><td>Acute necrotizing encephalopathy</td><td>Encéphalopathie nécrosante aiguë</td></tr><tr><td>HP:0001251</td><td>Ataxia</td><td>Ataxie</td></tr><tr><td>HP:0006554</td><td>Acute hepatic failure</td><td>Insuffisance hépatique aiguë</td></tr><tr><td>HP:0006582</td><td>Reye syndrome-like episodes</td><td>Épisodes de type syndrome de Reye</td></tr><tr><td>HP:0001638</td><td>Cardiomyopathy</td><td>Cardiomyopathie</td></tr><tr><td>HP:0001488</td><td>Bilateral ptosis</td><td>Ptose bilatérale</td></tr><tr><td>HP:0000508</td><td>Ptosis</td><td>Ptose</td></tr><tr><td>HP:0001138</td><td>Optic neuropathy</td><td>Neuropathie optique</td></tr><tr><td>HP:0000590</td><td>Progressive external ophthalmoplegia</td><td>Ophtalmoplégie externe progressive</td></tr></table></li></ul></div>
  </text>
  <url value="http://fhir.cqgc.ferlab.bio/ValueSet/mitn-default-hpo"/>
  <version value="0.1.0"/>
  <name value="mitn-default-hpo"/>
  <title
         value="Nuclear Mitochondriopathies default clinical signs (HPO code)"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2020-08-13T10:49:27-04:00"/>
  <publisher value="Ferlab.bio"/>
  <contact>
    <name value="Cqgc"/>
    <telecom>
      <system value="email"/>
      <value value="mailto:support@ferlab.bio"/>
    </telecom>
  </contact>
  <description
               value="Category of Nuclear Mitochondriopathies default clinical signs (HPO code)"/>
  <compose>
    <include>
      <system value="http://purl.obolibrary.org/obo/hp.owl"/>
      <concept>
        <code value="HP:0003128"/>
        <display value="Lactic acidosis"/>
        <designation>
          <language value="fr"/>
          <value value="Acidose lactique"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0001263"/>
        <display value="Global developmental delay"/>
        <designation>
          <language value="fr"/>
          <value value="Retard global de développement"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0001290"/>
        <display value="Generalized hypotonia"/>
        <designation>
          <language value="fr"/>
          <value value="Hypotonie généralisée"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0001250"/>
        <display value="Seizures"/>
        <designation>
          <language value="fr"/>
          <value value="Crise d'épilepsie"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0006965"/>
        <display value="Acute necrotizing encephalopathy"/>
        <designation>
          <language value="fr"/>
          <value value="Encéphalopathie nécrosante aiguë"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0001251"/>
        <display value="Ataxia"/>
        <designation>
          <language value="fr"/>
          <value value="Ataxie"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0006554"/>
        <display value="Acute hepatic failure"/>
        <designation>
          <language value="fr"/>
          <value value="Insuffisance hépatique aiguë"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0006582"/>
        <display value="Reye syndrome-like episodes"/>
        <designation>
          <language value="fr"/>
          <value value="Épisodes de type syndrome de Reye"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0001638"/>
        <display value="Cardiomyopathy"/>
        <designation>
          <language value="fr"/>
          <value value="Cardiomyopathie"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0001488"/>
        <display value="Bilateral ptosis"/>
        <designation>
          <language value="fr"/>
          <value value="Ptose bilatérale"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0000508"/>
        <display value="Ptosis"/>
        <designation>
          <language value="fr"/>
          <value value="Ptose"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0001138"/>
        <display value="Optic neuropathy"/>
        <designation>
          <language value="fr"/>
          <value value="Neuropathie optique"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0000590"/>
        <display value="Progressive external ophthalmoplegia"/>
        <designation>
          <language value="fr"/>
          <value value="Ophtalmoplégie externe progressive"/>
        </designation>
      </concept>
    </include>
  </compose>
</ValueSet>