{
  "resourceType" : "Observation",
  "id" : "mii-exa-molgen-variante-fgfr2-fusion",
  "meta" : {
    "profile" : ["https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante|2027.0.0-ballot.1",
    "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant|3.0.0"]
  },
  "language" : "en",
  "text" : {
    "status" : "generated",
    "div" : "<div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-molgen-variante-fgfr2-fusion</b></p><a name=\"mii-exa-molgen-variante-fgfr2-fusion\"> </a><a name=\"hcmii-exa-molgen-variante-fgfr2-fusion\"> </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\">Profiles: <a href=\"StructureDefinition-mii-pr-molgen-variante.html\">MII PR MolGen Variante</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html\">Variant</a> version: 3.0.0</p></div><p><b>basedOn</b>: <a href=\"ServiceRequest-mii-exa-molgen-anforderung-fgfr2-fusion.html\">ServiceRequest Molecular genetic test (procedure)</a></p><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}\">Genetics</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-mii-exa-molgen-patient-fgfr2-fusion.html\">Anonymous Patient Female, DoB: 1964-05 ( pseudonymized\u00a0(use:\u00a0usual,\u00a0))</a></p><p><b>effective</b>: 2022-11-30</p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}, {http://loinc.org 86206-0}\">Sequencing</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:3689}\">FGFR2</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://sequenceontology.org SO:0001565}\">gene_fusion</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 95123-6}\">Gene fusion transcript details in Blood or Tissue by Molecular genetics method Narrative</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:3689::HGNC:2697}\">FGFR2::DBP</span></p></blockquote></div>"
  },
  "basedOn" : [{
    "reference" : "ServiceRequest/mii-exa-molgen-anforderung-fgfr2-fusion"
  }],
  "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/mii-exa-molgen-patient-fgfr2-fusion"
  },
  "effectiveDateTime" : "2022-11-30",
  "valueCodeableConcept" : {
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "LA9633-4",
      "display" : "Present"
    }]
  },
  "method" : {
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "LA26398-0",
      "display" : "Sequencing"
    },
    {
      "system" : "http://loinc.org",
      "code" : "86206-0",
      "display" : "Whole genome sequence analysis in Blood or Tissue by Molecular genetics method"
    }]
  },
  "component" : [{
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48018-6"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.genenames.org/geneId",
        "code" : "HGNC:3689",
        "display" : "FGFR2"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48019-4"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://sequenceontology.org",
        "code" : "SO:0001565",
        "display" : "gene_fusion"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "95123-6"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.genenames.org/geneId",
        "code" : "HGNC:3689::HGNC:2697",
        "display" : "FGFR2::DBP"
      }]
    }
  }]
}