MyHealth@Eu Hospital Discharge Report - Local Development build (v0.0.1) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

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: eHDSI Rare Disease - JSON Representation

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{
  "resourceType" : "ValueSet",
  "id" : "eHDSIRareDisease",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet eHDSIRareDisease</b></p><a name=\"eHDSIRareDisease\"> </a><a name=\"hceHDSIRareDisease\"> </a><a name=\"eHDSIRareDisease-en-US\"> </a><ul><li>Include these codes as defined in <code>https://www.orpha.net</code><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>10</td><td>48,XXYY syndrome</td></tr><tr><td>100</td><td>Ataxia-telangiectasia</td></tr><tr><td>1000</td><td>Ocular albinism with late-onset sensorineural deafness</td></tr><tr><td>100000</td><td>Reticular perineurioma</td></tr><tr><td>100001</td><td>Sclerosing perineurioma</td></tr><tr><td>100002</td><td>Extraneural perineurioma</td></tr><tr><td>100003</td><td>Intraneural perineurioma</td></tr></table></li></ul></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger" : 1
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode" : "draft"
    }
  ],
  "url" : "http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease",
  "identifier" : [
    {
      "system" : "urn:ietf:rfc:3986",
      "value" : "urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.42.63"
    }
  ],
  "version" : "0.0.1",
  "name" : "EHDSIRareDisease",
  "title" : "eHDSI Rare Disease",
  "status" : "draft",
  "experimental" : false,
  "date" : "2025-05-16T14:50:40+00:00",
  "publisher" : "MyHealth@Eu",
  "contact" : [
    {
      "name" : "MyHealth@Eu",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://health.ec.europa.eu/other-pages/basic-page/myhealtheu-flyer-addressed-patients-and-health-professionals_en"
        }
      ]
    }
  ],
  "description" : "The Value Set is used to describe the problems and medication reasons.\nValue Set is limited for the ci-build purpose only",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "150",
          "display" : "Europe"
        }
      ]
    }
  ],
  "compose" : {
    "include" : [
      {
        "system" : "https://www.orpha.net",
        "concept" : [
          {
            "code" : "10",
            "display" : "48,XXYY syndrome"
          },
          {
            "code" : "100",
            "display" : "Ataxia-telangiectasia"
          },
          {
            "code" : "1000",
            "display" : "Ocular albinism with late-onset sensorineural deafness"
          },
          {
            "code" : "100000",
            "display" : "Reticular perineurioma"
          },
          {
            "code" : "100001",
            "display" : "Sclerosing perineurioma"
          },
          {
            "code" : "100002",
            "display" : "Extraneural perineurioma"
          },
          {
            "code" : "100003",
            "display" : "Intraneural perineurioma"
          }
        ]
      }
    ]
  }
}