PanCareSurPass Project HL7 FHIR Implementation Guide, published by PanCareSurPass Project. This guide is not an authorized publication; it is the continuous build for version 0.2.0 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

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: Hereditary Predispositions (ICD10) - JSON Representation

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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><a name=\"vs-icd10-predisposition-eu-pcsp-en-US\"> </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/6.0.2/CodeSystem-data-absent-reason.html\"><code>http://terminology.hl7.org/CodeSystem/data-absent-reason</code></a><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/6.0.2/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/3.1.0/CodeSystem-icd10.html\"><code>http://hl7.org/fhir/sid/icd-10</code></a><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" : "0.2.0",
  "name" : "ICD10HereditaryPredisposition",
  "title" : "Hereditary Predispositions (ICD10)",
  "status" : "draft",
  "experimental" : false,
  "date" : "2024-09-11T13:25:13+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"
          }
        ]
      }
    ]
  }
}