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: Fall 10: PALB2-Keimbahnmutation — pathogen - JSON Representation

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{
  "resourceType" : "Observation",
  "id" : "Fall10-PALB2-Keimbahn-Mutation",
  "meta" : {
    "profile" : [
      🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/StructureDefinition/mii-pr-onko-genetische-variante"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation Fall10-PALB2-Keimbahn-Mutation</b></p><a name=\"Fall10-PALB2-Keimbahn-Mutation\"> </a><a name=\"hcFall10-PALB2-Keimbahn-Mutation\"> </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=\"https://simplifier.net/resolve?scope=de.medizininformatikinitiative.kerndatensatz.onkologie@2026.0.3&amp;canonical=https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/StructureDefinition/mii-pr-onko-genetische-variante\">MII PR Onkologie Genetische Variante</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}\">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-Fall10-Patient-Christina-Becker.html\">Christina Becker  Female, DoB: 1982-12-14 ( http://fhir.bih-charite.de/sid/patient-id#SENO-2025-010)</a></p><p><b>effective</b>: 2025-03-15</p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>interpretation</b>: <span title=\"Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-genetische-variante-auspraegung M}\">Mutation</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:26144}\">PALB2</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6683-2}\">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_024675.4:c.509_510del}\">PALB2 c.509_510del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (p.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NP_079541.2:p.(Arg170Ilefs*14)}\">PALB2 p.(Arg170Ilefs*14)</span></p></blockquote></div>"
  },
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
          "code" : "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/Fall10-Patient-Christina-Becker"
  },
  "effectiveDateTime" : "2025-03-15",
  "valueCodeableConcept" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "LA9633-4",
        "display" : "Present"
      }
    ]
  },
  "interpretation" : [
    {
      "coding" : [
        {
          "system" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/CodeSystem/mii-cs-onko-genetische-variante-auspraegung",
          "code" : "M",
          "display" : "Mutation"
        }
      ]
    }
  ],
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48018-6",
            "display" : "Gene studied [ID]"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://www.genenames.org/geneId",
            "code" : "HGNC:26144",
            "display" : "PALB2"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48002-0",
            "display" : "Genomic source class [Type]"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "LA6683-2",
            "display" : "Germline"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48004-6",
            "display" : "DNA change (c.HGVS)"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://varnomen.hgvs.org",
            "code" : "NM_024675.4:c.509_510del",
            "display" : "PALB2 c.509_510del"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48005-3",
            "display" : "Amino acid change (p.HGVS)"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://varnomen.hgvs.org",
            "code" : "NP_079541.2:p.(Arg170Ilefs*14)",
            "display" : "PALB2 p.(Arg170Ilefs*14)"
          }
        ]
      }
    }
  ]
}