MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany

MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht - Downloaded Version 2027.0.0-ballot.1 See the Directory of published versions

: mii-exa-befund-bundle-befund-fgfr2-fusion

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  "timestamp" : "2022-12-16T13:47:00+01:00",
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          "div" : "<div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"DiagnosticReport_mii-exa-molgen-befundbericht-fgfr2-fusion\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport mii-exa-molgen-befundbericht-fgfr2-fusion</b></p><a name=\"mii-exa-molgen-befundbericht-fgfr2-fusion\"> </a><a name=\"hcmii-exa-molgen-befundbericht-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-molekulargenetischer-befundbericht.html\">MII PR MolGen Molekulargenetischer Befundbericht</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-genomic-report.html\">Genomic Report</a> version: 3.0.0</p></div><h2><span title=\"Codes:{http://loinc.org 51969-4}\">Genetic analysis report</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td>Anonymous Patient Female, DoB: 1964-05 ( pseudonymized\u00a0(use:\u00a0usual,\u00a0))</td></tr><tr><td>Performer</td><td> <a href=\"Practitioner-mii-exa-molgen-practitioner-lab.html\">Practitioner Dr. Daniel Schmidt(official)</a></td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Relevant Time</b></td></tr><tr><td><a href=\"Observation-mii-exa-molgen-diagnostische-implikation-fgfr2-fusion.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></a></td><td/><td>Final</td><td>2022-11-30</td></tr><tr><td><a href=\"Observation-mii-exa-molgen-variante-fgfr2-fusion.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td><td>2022-11-30</td></tr><tr><td><a href=\"Observation-mii-exa-molgen-therapeutische-implikation-fgfr2-fusion.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></a></td><td/><td>Final</td><td>2022-11-30</td></tr></table><p>Nachweis FGFR2-Fusion. Empfehlung: Hochselektive FGFR-Inhibitor-Therapie.</p></div>"
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          "div" : "<div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"ServiceRequest_mii-exa-molgen-anforderung-fgfr2-fusion\"> </a><p class=\"res-header-id\"><b>Generated Narrative: ServiceRequest mii-exa-molgen-anforderung-fgfr2-fusion</b></p><a name=\"mii-exa-molgen-anforderung-fgfr2-fusion\"> </a><a name=\"hcmii-exa-molgen-anforderung-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\">Profile: <a href=\"StructureDefinition-mii-pr-molgen-anforderung-genetischer-test.html\">MII PR MolGen Anforderung genetischer Test</a> version: 2027.0.0-ballot.1</p></div><p><b>identifier</b>: <code>https://www.charite.de/fhir/auftragsnummern</code>/PRK4QE59A</p><p><b>status</b>: Active</p><p><b>intent</b>: Order</p><p><b>category</b>: <span title=\"Codes:{http://snomed.info/sct 108252007}\">Laboratory procedure (procedure)</span></p><p><b>code</b>: <span title=\"Codes:{http://snomed.info/sct 405825005}\">Therapierelevante genetische Veränderungen bei Intrahepatischem Gallengangskarzinom</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>authoredOn</b>: 2022-11-30</p><p><b>requester</b>: <a href=\"Practitioner-mii-exa-molgen-practitioner-physician.html\">Practitioner Dr. Linda Rubens(official)</a></p><p><b>reasonCode</b>: <span title=\"Codes:{http://snomed.info/sct 109842005}, {http://fhir.de/CodeSystem/bfarm/icd-10-gm C22.1}\">Intrahepatic bile duct carcinoma (disorder)</span></p></div>"
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          "div" : "<div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Observation_mii-exa-molgen-variante-fgfr2-fusion\"> </a><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>"
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          "div" : "<div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Observation_mii-exa-molgen-diagnostische-implikation-fgfr2-fusion\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-molgen-diagnostische-implikation-fgfr2-fusion</b></p><a name=\"mii-exa-molgen-diagnostische-implikation-fgfr2-fusion\"> </a><a name=\"hcmii-exa-molgen-diagnostische-implikation-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-diagnostische-implikation.html\">MII PR MolGen Diagnostische Implikation</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-diagnostic-implication.html\">Diagnostic Implication</a> version: 3.0.0</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}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</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>performer</b>: <a href=\"Practitioner-mii-exa-molgen-practitioner-lab.html\">Practitioner Dr. Daniel Schmidt(official)</a></p><p><b>derivedFrom</b>: <a href=\"Observation-mii-exa-molgen-variante-fgfr2-fusion.html\">Observation Genetic variant assessment</a></p><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs conclusion-string}\">Conclusion Text</span></td><td>starke Überexpression (25-fach)</td></tr></table></div>"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
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        "code" : {
          "coding" : [
            {
              "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
              "code" : "diagnostic-implication",
              "display" : "Diagnostic Implication"
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        "effectiveDateTime" : "2022-11-30",
        "performer" : [
          {
            🔗 "reference" : "Practitioner/mii-exa-molgen-practitioner-lab"
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        ],
        "derivedFrom" : [
          {
            🔗 "reference" : "Observation/mii-exa-molgen-variante-fgfr2-fusion"
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        "component" : [
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                  "code" : "conclusion-string"
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              ]
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            "valueString" : "starke Überexpression (25-fach)"
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      },
      "request" : {
        "method" : "PUT",
        "url" : "Observation/mii-exa-molgen-diagnostische-implikation-fgfr2-fusion"
      }
    },
    {
      "fullUrl" : "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-therapeutische-implikation-fgfr2-fusion",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "mii-exa-molgen-therapeutische-implikation-fgfr2-fusion",
        "meta" : {
          "profile" : [
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        },
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Observation_mii-exa-molgen-therapeutische-implikation-fgfr2-fusion\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-molgen-therapeutische-implikation-fgfr2-fusion</b></p><a name=\"mii-exa-molgen-therapeutische-implikation-fgfr2-fusion\"> </a><a name=\"hcmii-exa-molgen-therapeutische-implikation-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-therapeutische-implikation.html\">MII PR MolGen Therapeutische Implikation</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-therapeutic-implication.html\">Therapeutic Implication</a> version: 3.0.0</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}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</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>performer</b>: <a href=\"Practitioner-mii-exa-molgen-practitioner-lab.html\">Practitioner Dr. Daniel Schmidt(official)</a></p><p><b>derivedFrom</b>: <a href=\"Observation-mii-exa-molgen-variante-fgfr2-fusion.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs conclusion-string}\">Conclusion Text</span></p><p><b>value</b>: Hochselektiver FGFR2-Inhibitor RLY-4008 bei Patienten mit Cholangiokarzinomen und anderen soliden Tumoren, mit oder ohne FGFR- gerichtete Vortherapie.</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51963-7}\">Medication assessed [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.whocc.no/atc L01EN}, {http://snomed.info/sct 1162485005}\">Fibroblasten-Wachstumsfaktor-Rezeptor (FGFR)-Tyrosinkinase-Inhibitoren</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 93044-6}\">Level of evidence</span></p><p><b>value</b>: <span title=\"Codes:\">m1c</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 109842005}, {http://fhir.de/CodeSystem/bfarm/icd-10-gm C22.1}\">Intrahepatic bile duct carcinoma (disorder)</span></p></blockquote></div>"
        },
        "status" : "final",
        "category" : [
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              }
            ]
          },
          {
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                "code" : "GE"
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            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
              "code" : "therapeutic-implication",
              "display" : "Therapeutic Implication"
            }
          ]
        },
        "subject" : {
          🔗 "reference" : "Patient/mii-exa-molgen-patient-fgfr2-fusion"
        },
        "effectiveDateTime" : "2022-11-30",
        "performer" : [
          {
            🔗 "reference" : "Practitioner/mii-exa-molgen-practitioner-lab"
          }
        ],
        "derivedFrom" : [
          {
            🔗 "reference" : "Observation/mii-exa-molgen-variante-fgfr2-fusion"
          }
        ],
        "component" : [
          {
            "code" : {
              "coding" : [
                {
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                  "code" : "conclusion-string"
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              ]
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            "valueString" : "Hochselektiver FGFR2-Inhibitor RLY-4008 bei Patienten mit Cholangiokarzinomen und anderen soliden Tumoren, mit oder ohne FGFR- gerichtete Vortherapie."
          },
          {
            "code" : {
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                  "code" : "51963-7",
                  "display" : "Medication assessed [ID]"
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              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.whocc.no/atc",
                  "code" : "L01EN",
                  "display" : "Fibroblasten-Wachstumsfaktor-Rezeptor (FGFR)-Tyrosinkinase-Inhibitoren"
                },
                {
                  "system" : "http://snomed.info/sct",
                  "code" : "1162485005",
                  "display" : "Substance with fibroblast growth factor receptor inhibitor mechanism of action (substance)"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "93044-6"
                }
              ]
            },
            "valueCodeableConcept" : {
              "text" : "m1c"
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "81259-4"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://snomed.info/sct",
                  "code" : "109842005",
                  "display" : "Intrahepatic bile duct carcinoma (disorder)"
                },
                {
                  "system" : "http://fhir.de/CodeSystem/bfarm/icd-10-gm",
                  "version" : "2024",
                  "code" : "C22.1",
                  "display" : "Intrahepatisches Gallengangskarzinom"
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              ]
            }
          }
        ]
      },
      "request" : {
        "method" : "PUT",
        "url" : "Observation/mii-exa-molgen-therapeutische-implikation-fgfr2-fusion"
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    {
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      "resource" : {
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        "id" : "mii-exa-molgen-medikationsempfehlung-fgfr2-fusion",
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          "profile" : [
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            "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/medication-recommendation|3.0.0"
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        },
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Task_mii-exa-molgen-medikationsempfehlung-fgfr2-fusion\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Task mii-exa-molgen-medikationsempfehlung-fgfr2-fusion</b></p><a name=\"mii-exa-molgen-medikationsempfehlung-fgfr2-fusion\"> </a><a name=\"hcmii-exa-molgen-medikationsempfehlung-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-medikationsempfehlung.html\">MII PR MolGen Medikationsempfehlung</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-medication-recommendation.html\">Medication Recommendation</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>: Requested</p><p><b>intent</b>: proposal</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org LA26421-0}\">Hochselektive FGFR-Inhibitor-Therapie</span></p><p><b>for</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>reasonReference</b>: <a href=\"Observation-mii-exa-molgen-therapeutische-implikation-fgfr2-fusion.html\">Observation Therapeutic Implication</a></p></div>"
        },
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          {
            🔗 "reference" : "ServiceRequest/mii-exa-molgen-anforderung-fgfr2-fusion"
          }
        ],
        "status" : "requested",
        "intent" : "proposal",
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "LA26421-0",
              "display" : "Consider alternative medication"
            }
          ],
          "text" : "Hochselektive FGFR-Inhibitor-Therapie"
        },
        "for" : {
          🔗 "reference" : "Patient/mii-exa-molgen-patient-fgfr2-fusion"
        },
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          🔗 "reference" : "Observation/mii-exa-molgen-therapeutische-implikation-fgfr2-fusion"
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      },
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}