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

This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: Genomic Study Analysis TruRisk Panel v3

Raw json | Download

{
  "resourceType" : "Procedure",
  "id" : "mii-exa-molgen-genomic-study-analysis-trurisk-panel",
  "meta" : {
    "profile" : [
      🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-genomic-study-analysis",
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1"
    ]
  },
  "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: Procedure mii-exa-molgen-genomic-study-analysis-trurisk-panel</b></p><a name=\"de-mii-exa-molgen-genomic-study-analysis-trurisk-panel\"> </a><a name=\"de-hcmii-exa-molgen-genomic-study-analysis-trurisk-panel\"> </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-genomic-study-analysis.html\">MII PR MolGen Genomic Study Analysis</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/genomic-study-analysis|2027.0.0-ballot.1\">https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1</a></p></div><p><b>Genomic Study Analysis Specimen</b>: <a href=\"Specimen-mii-exa-molgen-specimen-brca1.html\">Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_03; status = available; type = Tissue specimen from breast (specimen); receivedTime = 2022-11-01</a></p><blockquote><p><b>Genomic Study Analysis Device</b></p><ul><li>device: <a href=\"Device-mii-exa-molgen-device-sequencer-nextseq.html\">Device: status = active; manufacturer = Illumina</a></li></ul></blockquote><p><b>Genomic Study Analysis Method Type</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Sequencing</span></p><blockquote><p><b>Genomic Study Analysis Regions</b></p><ul><li>description: TruRisk Panel v3: Alle kodierenden Exons der Core-Gene für erblichen Brust- und Eierstockkrebs</li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:795}\">ATM</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:1100}\">BRCA1</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:952}\">BARD1</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:1101}\">BRCA2</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:20473}\">BRIP1</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:1748}\">CDH1</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:16627}\">CHEK2</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:7127}\">MLH1</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:7325}\">MSH2</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:7329}\">MSH6</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:26144}\">PALB2</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:9122}\">PMS2</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:9588}\">PTEN</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:9820}\">RAD51C</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:9823}\">RAD51D</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:11998}\">TP53</span></li></ul></blockquote><p><b>status</b>: Completed</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</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></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen",
      "valueReference" : {
        🔗 "reference" : "Specimen/mii-exa-molgen-specimen-brca1"
      }
    },
    {
      "extension" : [
        {
          "url" : "device",
          "valueReference" : {
            🔗 "reference" : "Device/mii-exa-molgen-device-sequencer-nextseq"
          }
        }
      ],
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
    },
    {
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "LA26398-0",
            "display" : "Sequencing"
          }
        ]
      }
    },
    {
      "extension" : [
        {
          "url" : "description",
          "valueString" : "TruRisk Panel v3: Alle kodierenden Exons der Core-Gene für erblichen Brust- und Eierstockkrebs"
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:795",
                "display" : "ATM"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:1100",
                "display" : "BRCA1"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:952",
                "display" : "BARD1"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:1101",
                "display" : "BRCA2"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:20473",
                "display" : "BRIP1"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:1748",
                "display" : "CDH1"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:16627",
                "display" : "CHEK2"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:7127",
                "display" : "MLH1"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:7325",
                "display" : "MSH2"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:7329",
                "display" : "MSH6"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:26144",
                "display" : "PALB2"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:9122",
                "display" : "PMS2"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:9588",
                "display" : "PTEN"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:9820",
                "display" : "RAD51C"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:9823",
                "display" : "RAD51D"
              }
            ]
          }
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org/geneId",
                "code" : "HGNC:11998",
                "display" : "TP53"
              }
            ]
          }
        }
      ],
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
    }
  ],
  "status" : "completed",
  "category" : {
    "coding" : [
      {
        "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
        "code" : "laboratory"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/mii-exa-molgen-patient-brca1"
  }
}