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

Active as of 2025-03-31

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="polym-default-hpo"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet polym-default-hpo</b></p><a name="polym-default-hpo"> </a><a name="hcpolym-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:0000252</td><td>Microcephaly</td><td>Microcéphalie</td></tr><tr><td>HP:0000256</td><td>Macrocephaly</td><td>Macrocéphalie</td></tr><tr><td>HP:0000175</td><td>Cleft palate</td><td>Fente palatine</td></tr><tr><td>HP:0001320</td><td>Cerebellar vermis hypoplasia</td><td>Hypoplasie du vermis cérébelleux</td></tr><tr><td>HP:0001305</td><td>Dandy-Walker malformation</td><td>Malformation de Dandy-Walker</td></tr><tr><td>HP:0002539</td><td>Cortical dysplasia</td><td>Dysplasie du cortex cérébral</td></tr><tr><td>HP:0001710</td><td>Conotruncal heart defects</td><td>Anomalie conotroncale</td></tr><tr><td>HP:0001750</td><td>Single ventricle</td><td>Coeur univentriculaire</td></tr><tr><td>HP:0001642</td><td>Pulmonic stenosis</td><td>Sténose pulmonaire</td></tr><tr><td>HP:0001629</td><td>Ventricular septal defect</td><td>Communication interventriculaire</td></tr><tr><td>HP:0002032</td><td>Esophageal atresia</td><td>Atrésie de l'oesophage</td></tr><tr><td>HP:0000104</td><td>Renal agenesis</td><td>Agénésie rénale</td></tr><tr><td>HP:0000047</td><td>Hypospadias</td><td>Hypospadias</td></tr><tr><td>HP:0002652</td><td>Skeletal dysplasia</td><td>Dysplasie squelettique</td></tr><tr><td>HP:0100258</td><td>Preaxial polydactyly</td><td>Polydactylie pré-axiale</td></tr><tr><td>HP:0100259</td><td>Postaxial polydactyly</td><td>Polydactylie post-axiale</td></tr><tr><td>HP:0410049</td><td>Abnormal radial ray morphology</td><td>Anomalie du rayon radial</td></tr><tr><td>HP:0004322</td><td>Short stature</td><td>Petite taille</td></tr><tr><td>HP:0001520</td><td>Large for gestational age</td><td>Macrosomie</td></tr></table></li></ul></div>
  </text>
  <url value="http://fhir.cqgc.ferlab.bio/ValueSet/polym-default-hpo"/>
  <version value="0.1.0"/>
  <name value="polym-default-hpo"/>
  <title value="Polymalformation default clinical signs (HPO code)"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2025-03-31T10:49:27-04:00"/>
  <publisher value="Ferlab.bio"/>
  <contact>
    <name value="Cqgc"/>
    <telecom>
      <system value="email"/>
      <value value="mailto:support@ferlab.bio"/>
    </telecom>
  </contact>
  <description value="Polymalformation default clinical signs (HPO code)"/>
  <compose>
    <include>
      <system value="http://purl.obolibrary.org/obo/hp.owl"/>
      <concept>
        <code value="HP:0000252"/>
        <display value="Microcephaly"/>
        <designation>
          <language value="fr"/>
          <value value="Microcéphalie"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0000256"/>
        <display value="Macrocephaly"/>
        <designation>
          <language value="fr"/>
          <value value="Macrocéphalie"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0000175"/>
        <display value="Cleft palate"/>
        <designation>
          <language value="fr"/>
          <value value="Fente palatine"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0001320"/>
        <display value="Cerebellar vermis hypoplasia"/>
        <designation>
          <language value="fr"/>
          <value value="Hypoplasie du vermis cérébelleux"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0001305"/>
        <display value="Dandy-Walker malformation"/>
        <designation>
          <language value="fr"/>
          <value value="Malformation de Dandy-Walker"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0002539"/>
        <display value="Cortical dysplasia"/>
        <designation>
          <language value="fr"/>
          <value value="Dysplasie du cortex cérébral"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0001710"/>
        <display value="Conotruncal heart defects"/>
        <designation>
          <language value="fr"/>
          <value value="Anomalie conotroncale"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0001750"/>
        <display value="Single ventricle"/>
        <designation>
          <language value="fr"/>
          <value value="Coeur univentriculaire"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0001642"/>
        <display value="Pulmonic stenosis"/>
        <designation>
          <language value="fr"/>
          <value value="Sténose pulmonaire"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0001629"/>
        <display value="Ventricular septal defect"/>
        <designation>
          <language value="fr"/>
          <value value="Communication interventriculaire"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0002032"/>
        <display value="Esophageal atresia"/>
        <designation>
          <language value="fr"/>
          <value value="Atrésie de l'oesophage"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0000104"/>
        <display value="Renal agenesis"/>
        <designation>
          <language value="fr"/>
          <value value="Agénésie rénale"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0000047"/>
        <display value="Hypospadias"/>
        <designation>
          <language value="fr"/>
          <value value="Hypospadias"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0002652"/>
        <display value="Skeletal dysplasia"/>
        <designation>
          <language value="fr"/>
          <value value="Dysplasie squelettique"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0100258"/>
        <display value="Preaxial polydactyly"/>
        <designation>
          <language value="fr"/>
          <value value="Polydactylie pré-axiale"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0100259"/>
        <display value="Postaxial polydactyly"/>
        <designation>
          <language value="fr"/>
          <value value="Polydactylie post-axiale"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0410049"/>
        <display value="Abnormal radial ray morphology"/>
        <designation>
          <language value="fr"/>
          <value value="Anomalie du rayon radial"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0004322"/>
        <display value="Short stature"/>
        <designation>
          <language value="fr"/>
          <value value="Petite taille"/>
        </designation>
      </concept>
      <concept>
        <code value="HP:0001520"/>
        <display value="Large for gestational age"/>
        <designation>
          <language value="fr"/>
          <value value="Macrosomie"/>
        </designation>
      </concept>
    </include>
  </compose>
</ValueSet>