MII IG Kerndatensatz-Modul Molekulares Tumorboard, published by Medizininformatik-Initiative. This guide is not an authorized publication; it is the continuous build for version 2026.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/medizininformatik-initiative/kerndatensatzmodul-molekulares-tumorboard/ and changes regularly. See the Directory of published versions

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: CCNE1 Einfache Variante 2 - JSON Representation

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{
  "resourceType" : "Observation",
  "id" : "mii-exa-mtb-kim-musterperson-CNVariante-CCNE1",
  "meta" : {
    "profile" : [
      🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-copy-number-variant|2026.0.0"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-mtb-kim-musterperson-CNVariante-CCNE1</b></p><a name=\"mii-exa-mtb-kim-musterperson-CNVariante-CCNE1\"> </a><a name=\"hcmii-exa-mtb-kim-musterperson-CNVariante-CCNE1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-mii-pr-mtb-copy-number-variant.html\">MII PR MTB Copy Number Variantversion: null2026.0.0)</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetik</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-PatientKimMusterperson.html\">Kim Musterperson  (no stated gender), DoB: 1956-03-14</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:1589}\">CCNE1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://bwhc.de/mtb/genetics-copy-number-variant type}\">type</span></p><p><b>value</b>: <span title=\"Codes:{http://bwhc.de/mtb/genetics-copy-number-variant high-level-gain}\">high-level-gain</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82155-3}\">Genomic structural variant copy number</span></p><p><b>value</b>: 7 1<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code1 = '1')</span></p></blockquote></div>"
  },
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
          "code" : "laboratory",
          "display" : "Laboratory"
        }
      ]
    },
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "69548-6",
        "display" : "Genetic variant assessment"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/PatientKimMusterperson"
  },
  "valueCodeableConcept" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "LA9633-4",
        "display" : "Present"
      }
    ]
  },
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48018-6",
            "display" : "Gene studied [ID]"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://www.genenames.org/geneId",
            "code" : "HGNC:1589",
            "display" : "CCNE1"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://bwhc.de/mtb/genetics-copy-number-variant",
            "code" : "type"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://bwhc.de/mtb/genetics-copy-number-variant",
            "code" : "high-level-gain",
            "display" : "high-level-gain"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "82155-3",
            "display" : "Genomic structural variant copy number"
          }
        ]
      },
      "valueQuantity" : {
        "value" : 7,
        "system" : "http://unitsofmeasure.org",
        "code" : "1"
      }
    }
  ]
}