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

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: Molekulare Konsequenz BRCA1 Variante

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{
  "resourceType" : "Observation",
  "id" : "mii-exa-molgen-molekulare-konsequenz-brca1",
  "meta" : {
    "profile" : [
      🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-molekulare-konsequenz",
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulare-konsequenz|2027.0.0-ballot.1"🔗 ,
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence|3.0.0"
    ]
  },
  "language" : "de",
  "text" : {
    "status" : "extensions",
    "div" : "<div xml:lang=\"de\" lang=\"de\"><hr/><p><b>German</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-molgen-molekulare-konsequenz-brca1</b></p><a name=\"de-mii-exa-molgen-molekulare-konsequenz-brca1\"> </a><a name=\"de-hcmii-exa-molgen-molekulare-konsequenz-brca1\"> </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-molekulare-konsequenz.html\">MII PR MolGen Molekulare Konsequenz</a>, <a href=\"https://simplifier.net/resolve?scope=de.basisprofil.r4@1.6.0&amp;canonical=https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulare-konsequenz|2027.0.0-ballot.1\">https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulare-konsequenz|2027.0.0-ballot.1</a>, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-molecular-consequence.html\">Molecular Consequence</a> version: 3.0.0</p></div><p><b>Related artifact</b>: No display for RelatedArtifact  (type: citation; citation: Richards et al., Genet Med. 2015; 17:405-24; url: https://pubmed.ncbi.nlm.nih.gov/25741868/)</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}\">Genetik</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs molecular-consequence}\">Molecular Consequence</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient-brca1.html\">Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Krankenaktennummer\u00a0(use:\u00a0usual,\u00a0))</a></p><p><b>effective</b>: 2022-11-01</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-brca1.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>: Nachweis heterozygoter Sequenzveränderung, die zum Funktionsverlust führt</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6668-3}\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs functional-effect}\">Functional Effect</span></p><p><b>value</b>: <span title=\"Codes:{http://sequenceontology.org SO:0002054}\">Funktionsverlust des Genprodukts</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:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs 2-star}\">2 star</span></p></blockquote></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
      "valueRelatedArtifact" : {
        "type" : "citation",
        "citation" : "Richards et al., Genet Med. 2015; 17:405-24",
        "url" : "https://pubmed.ncbi.nlm.nih.gov/25741868/"
      }
    }
  ],
  "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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "molecular-consequence",
        "display" : "Molecular Consequence"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/mii-exa-molgen-patient-brca1"
  },
  "effectiveDateTime" : "2022-11-01",
  "performer" : [
    {
      🔗 "reference" : "Practitioner/mii-exa-molgen-practitioner-lab"
    }
  ],
  "derivedFrom" : [
    {
      🔗 "reference" : "Observation/mii-exa-molgen-variante-brca1"
    }
  ],
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
            "code" : "conclusion-string"
          }
        ]
      },
      "valueString" : "Nachweis heterozygoter Sequenzveränderung, die zum Funktionsverlust führt"
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "53037-8",
            "display" : "Genetic variation clinical significance [Imp]"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "LA6668-3",
            "display" : "Pathogenic"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
            "code" : "functional-effect"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://sequenceontology.org",
            "code" : "SO:0002054",
            "display" : "loss_of_function_variant"
          }
        ],
        "text" : "Funktionsverlust des Genprodukts"
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "93044-6"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs",
            "code" : "2-star",
            "display" : "2 star"
          }
        ]
      }
    }
  ]
}