PanCareSurPass Project HL7 FHIR Implementation Guide
1.0.0 - release 150

PanCareSurPass Project HL7 FHIR Implementation Guide, published by PanCareSurPass Project. This guide is not an authorized publication; it is the continuous build for version 1.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-eu/pcsp/ and changes regularly. See the Directory of published versions

## : Hereditary Predispositions (ICD10) - XML Representation

Active as of 2026-01-16

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    <ValueSet xmlns="http://hl7.org/fhir">
      <id value="vs-icd10-predisposition-eu-pcsp"/>
      <text>
        <status value="extensions"/>
        <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet vs-icd10-predisposition-eu-pcsp</b></p><a name="vs-icd10-predisposition-eu-pcsp"> </a><a name="hcvs-icd10-predisposition-eu-pcsp"> </a><p>This value set includes codes based on the following rules:</p><ul><li>Include these codes as defined in <a href="http://terminology.hl7.org/7.0.1/CodeSystem-data-absent-reason.html"><code>http://terminology.hl7.org/CodeSystem/data-absent-reason</code></a><span title="Version is not explicitly stated, which means it is fixed to 1.0.0, the version found through the package references"> version &#x1F4E6;1.0.0</span><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td><a href="http://terminology.hl7.org/7.0.1/CodeSystem-data-absent-reason.html#data-absent-reason-not-applicable">not-applicable</a></td><td style="color: #cccccc">Not Applicable</td><td>There is no proper value for this element (e.g. last menstrual period for a male).</td></tr></table></li><li>Include these codes as defined in <a href="http://terminology.hl7.org/6.5.0/CodeSystem-icd10.html"><code>http://hl7.org/fhir/sid/icd-10</code></a><span title="Version is not explicitly stated. No matching Code System found"> version Not Stated (use latest from terminology server)</span><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>D61.0</td><td>Constitutional aplastic anemia</td></tr><tr><td>D82.0</td><td>Wiskott-Aldrich syndrome</td></tr><tr><td>D82.3</td><td>Immunodeficiency following hereditary defective response to Epstein-Barr virus</td></tr><tr><td>E34.8</td><td>Other specified endocrine disorders</td></tr><tr><td>G11.3</td><td>Cerebellar ataxia with defective DNA repair</td></tr><tr><td>K86.1</td><td>Other chronic pancreatitis</td></tr><tr><td>L72.8</td><td>Other follicular cysts of the skin and subcutaneous tissue</td></tr><tr><td>Q78.6</td><td>Multiple congenital exostoses</td></tr><tr><td>Q82.1</td><td>Xeroderma pigmentosum</td></tr><tr><td>Q82.2</td><td>Congenital cutaneous mastocytosis</td></tr><tr><td>Q82.8</td><td>Other specified congenital malformations of skin</td></tr><tr><td>Q85.0</td><td>Neurofibromatosis (nonmalignant)</td></tr><tr><td>Q85.1</td><td>Tuberous sclerosis</td></tr><tr><td>Q85.8</td><td>Other phakomatoses, not elsewhere classified</td></tr><tr><td>Q87.3</td><td>Congenital malformation syndromes involving early overgrowth</td></tr><tr><td>Q87.8</td><td>Other specified congenital malformation syndromes, not elsewhere classified</td></tr></table></li></ul></div>
      </text>
      <url
           value="http://hl7.eu/fhir/ig/pcsp/ValueSet/vs-icd10-predisposition-eu-pcsp"/>
      <version value="1.0.0"/>
      <name value="ICD10HereditaryPredisposition"/>
      <title value="Hereditary Predispositions (ICD10)"/>
      <status value="active"/>
      <experimental value="false"/>
      <date value="2026-01-16T12:01:48+00:00"/>
      <publisher value="PanCareSurPass Project"/>
      <contact>
        <name value="PanCareSurPass Project"/>
        <telecom>
          <system value="url"/>
          <value value="https://www.pancaresurpass.eu/"/>
        </telecom>
      </contact>
      <contact>
        <name value="PanCareSurPass Project"/>
        <telecom>
          <system value="url"/>
          <value value="https://www.pancaresurpass.eu/"/>
        </telecom>
      </contact>
      <description value="Hereditary Predispositions (ICD10)"/>
      <jurisdiction>
        <coding>
          <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
          <code value="150"/>
          <display value="Europe"/>
        </coding>
      </jurisdiction>
      <compose>
        <include>
          <system
                  value="http://terminology.hl7.org/CodeSystem/data-absent-reason"/>
          <concept>
            <code value="not-applicable"/>
          </concept>
        </include>
        <include>
          <system value="http://hl7.org/fhir/sid/icd-10"/>
          <concept>
            <code value="D61.0"/>
            <display value="Constitutional aplastic anemia"/>
          </concept>
          <concept>
            <code value="D82.0"/>
            <display value="Wiskott-Aldrich syndrome"/>
          </concept>
          <concept>
            <code value="D82.3"/>
            <display
                     value="Immunodeficiency following hereditary defective response to Epstein-Barr virus"/>
          </concept>
          <concept>
            <code value="E34.8"/>
            <display value="Other specified endocrine disorders"/>
          </concept>
          <concept>
            <code value="G11.3"/>
            <display value="Cerebellar ataxia with defective DNA repair"/>
          </concept>
          <concept>
            <code value="K86.1"/>
            <display value="Other chronic pancreatitis"/>
          </concept>
          <concept>
            <code value="L72.8"/>
            <display
                     value="Other follicular cysts of the skin and subcutaneous tissue"/>
          </concept>
          <concept>
            <code value="Q78.6"/>
            <display value="Multiple congenital exostoses"/>
          </concept>
          <concept>
            <code value="Q82.1"/>
            <display value="Xeroderma pigmentosum"/>
          </concept>
          <concept>
            <code value="Q82.2"/>
            <display value="Congenital cutaneous mastocytosis"/>
          </concept>
          <concept>
            <code value="Q82.8"/>
            <display value="Other specified congenital malformations of skin"/>
          </concept>
          <concept>
            <code value="Q85.0"/>
            <display value="Neurofibromatosis (nonmalignant)"/>
          </concept>
          <concept>
            <code value="Q85.1"/>
            <display value="Tuberous sclerosis"/>
          </concept>
          <concept>
            <code value="Q85.8"/>
            <display value="Other phakomatoses, not elsewhere classified"/>
          </concept>
          <concept>
            <code value="Q87.3"/>
            <display
                     value="Congenital malformation syndromes involving early overgrowth"/>
          </concept>
          <concept>
            <code value="Q87.8"/>
            <display
                     value="Other specified congenital malformation syndromes, not elsewhere classified"/>
          </concept>
        </include>
      </compose>
    </ValueSet>