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) - JSON Representation

Active as of 2025-10-16

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    {
      "resourceType" : "ValueSet",
      "id" : "vs-icd10-predisposition-eu-pcsp",
      "text" : {
        "status" : "extensions",
        "div" : "<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/6.5.0/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/6.5.0/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 explicity 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>"
      },
      "url" : "http://hl7.eu/fhir/ig/pcsp/ValueSet/vs-icd10-predisposition-eu-pcsp",
      "version" : "1.0.0",
      "name" : "ICD10HereditaryPredisposition",
      "title" : "Hereditary Predispositions (ICD10)",
      "status" : "active",
      "experimental" : false,
      "date" : "2025-10-16T12:02:24+00:00",
      "publisher" : "PanCareSurPass Project",
      "contact" : [
        {
          "name" : "PanCareSurPass Project",
          "telecom" : [
            {
              "system" : "url",
              "value" : "https://www.pancaresurpass.eu/"
            }
          ]
        },
        {
          "name" : "PanCareSurPass Project",
          "telecom" : [
            {
              "system" : "url",
              "value" : "https://www.pancaresurpass.eu/"
            }
          ]
        }
      ],
      "description" : "Hereditary Predispositions (ICD10)",
      "jurisdiction" : [
        {
          "coding" : [
            {
              "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
              "code" : "150",
              "display" : "Europe"
            }
          ]
        }
      ],
      "compose" : {
        "include" : [
          {
            "system" : "http://terminology.hl7.org/CodeSystem/data-absent-reason",
            "concept" : [
              {
                "code" : "not-applicable"
              }
            ]
          },
          {
            "system" : "http://hl7.org/fhir/sid/icd-10",
            "concept" : [
              {
                "code" : "D61.0",
                "display" : "Constitutional aplastic anemia"
              },
              {
                "code" : "D82.0",
                "display" : "Wiskott-Aldrich syndrome"
              },
              {
                "code" : "D82.3",
                "display" : "Immunodeficiency following hereditary defective response to Epstein-Barr virus"
              },
              {
                "code" : "E34.8",
                "display" : "Other specified endocrine disorders"
              },
              {
                "code" : "G11.3",
                "display" : "Cerebellar ataxia with defective DNA repair"
              },
              {
                "code" : "K86.1",
                "display" : "Other chronic pancreatitis"
              },
              {
                "code" : "L72.8",
                "display" : "Other follicular cysts of the skin and subcutaneous tissue"
              },
              {
                "code" : "Q78.6",
                "display" : "Multiple congenital exostoses"
              },
              {
                "code" : "Q82.1",
                "display" : "Xeroderma pigmentosum"
              },
              {
                "code" : "Q82.2",
                "display" : "Congenital cutaneous mastocytosis"
              },
              {
                "code" : "Q82.8",
                "display" : "Other specified congenital malformations of skin"
              },
              {
                "code" : "Q85.0",
                "display" : "Neurofibromatosis (nonmalignant)"
              },
              {
                "code" : "Q85.1",
                "display" : "Tuberous sclerosis"
              },
              {
                "code" : "Q85.8",
                "display" : "Other phakomatoses, not elsewhere classified"
              },
              {
                "code" : "Q87.3",
                "display" : "Congenital malformation syndromes involving early overgrowth"
              },
              {
                "code" : "Q87.8",
                "display" : "Other specified congenital malformation syndromes, not elsewhere classified"
              }
            ]
          }
        ]
      }
    }