HL7 PT FHIR Implementation Guide: Noticia de Nascimento, published by HL7 Portugal. This guide is not an authorized publication; it is the continuous build for version 0.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-pt/obs-neonat-ig/ and changes regularly. See the Directory of published versions

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: Tipos de doença congénita ValueSet - XML Representation

Active as of 2024-12-04

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="newborn-congenital-anomalies-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet newborn-congenital-anomalies-vs</b></p><a name="newborn-congenital-anomalies-vs"> </a><a name="hcnewborn-congenital-anomalies-vs"> </a><a name="newborn-congenital-anomalies-vs-pt-PT"> </a><ul><li>Include these codes as defined in <a href="http://www.snomed.org/"><code>http://snomed.info/sct</code></a><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href="http://snomed.info/id/89369001">89369001</a></td><td>Anencephalus</td></tr><tr><td><a href="http://snomed.info/id/67531005">67531005</a></td><td>Meningomyelocele/Spina bifida</td></tr><tr><td><a href="http://snomed.info/id/12770006">12770006</a></td><td>Cyanotic congenital heart disease</td></tr><tr><td><a href="http://snomed.info/id/17190001">17190001</a></td><td>Congenital diaphragmatic hernia</td></tr><tr><td><a href="http://snomed.info/id/18735004">18735004</a></td><td>Congenital omphalocele</td></tr><tr><td><a href="http://snomed.info/id/72951007">72951007</a></td><td>Gastroschisis</td></tr><tr><td><a href="http://snomed.info/id/67341007">67341007</a></td><td>Longitudinal deficiency of limb - Limb reduction defect (excluding congenital amputation and dwarfing syndromes)</td></tr><tr><td><a href="http://snomed.info/id/80281008">80281008</a></td><td>Cleft Lip with or without Cleft Palate</td></tr><tr><td><a href="http://snomed.info/id/87979003">87979003</a></td><td>Cleft palate</td></tr><tr><td><a href="http://snomed.info/id/70156005">70156005</a></td><td>Anomaly of chromosome pair 21</td></tr><tr><td><a href="http://snomed.info/id/409709004">409709004</a></td><td>Chromosomal disorder</td></tr><tr><td><a href="http://snomed.info/id/416010008">416010008</a></td><td>Hypospadias</td></tr><tr><td><a href="http://snomed.info/id/282332003">282332003</a></td><td>No abnormality detected - examination result</td></tr></table></li></ul></div>
  </text>
  <url
       value="https://hl7.pt/fhir/NoticiaNascimento/ValueSet/newborn-congenital-anomalies-vs"/>
  <version value="0.0.1"/>
  <name value="NewbornCongenitalAnomaliesVS"/>
  <title value="Tipos de doença congénita ValueSet"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2024-12-04T15:23:35+00:00"/>
  <publisher value="HL7 Portugal"/>
  <contact>
    <name value="HL7 Portugal"/>
    <telecom>
      <system value="url"/>
      <value value="http://hl7.pt"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="info@hl7.pt"/>
    </telecom>
  </contact>
  <contact>
    <name value="HL7 Portugal"/>
    <telecom>
      <system value="email"/>
      <value value="geral@hl7.pt"/>
      <use value="work"/>
    </telecom>
  </contact>
  <description value="Tipos de doença congénita ValueSet"/>
  <jurisdiction>
    <coding>
      <system value="urn:iso:std:iso:3166"/>
      <code value="PT"/>
      <display value="Portugal"/>
    </coding>
  </jurisdiction>
  <compose>
    <include>
      <system value="http://snomed.info/sct"/>
      <concept>
        <code value="89369001"/>
        <display value="Anencephalus"/>
      </concept>
      <concept>
        <code value="67531005"/>
        <display value="Meningomyelocele/Spina bifida"/>
      </concept>
      <concept>
        <code value="12770006"/>
        <display value="Cyanotic congenital heart disease"/>
      </concept>
      <concept>
        <code value="17190001"/>
        <display value="Congenital diaphragmatic hernia"/>
      </concept>
      <concept>
        <code value="18735004"/>
        <display value="Congenital omphalocele"/>
      </concept>
      <concept>
        <code value="72951007"/>
        <display value="Gastroschisis"/>
      </concept>
      <concept>
        <code value="67341007"/>
        <display
                 value="Longitudinal deficiency of limb - Limb reduction defect (excluding congenital amputation and dwarfing syndromes)"/>
      </concept>
      <concept>
        <code value="80281008"/>
        <display value="Cleft Lip with or without Cleft Palate"/>
      </concept>
      <concept>
        <code value="87979003"/>
        <display value="Cleft palate"/>
      </concept>
      <concept>
        <code value="70156005"/>
        <display value="Anomaly of chromosome pair 21"/>
      </concept>
      <concept>
        <code value="409709004"/>
        <display value="Chromosomal disorder"/>
      </concept>
      <concept>
        <code value="416010008"/>
        <display value="Hypospadias"/>
      </concept>
      <concept>
        <code value="282332003"/>
        <display value="No abnormality detected - examination result"/>
      </concept>
    </include>
  </compose>
</ValueSet>