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: DMD Exon 45 Deletion - MolGen Variante

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{
  "resourceType" : "Observation",
  "id" : "mii-exa-seltene-molgen-variant-dmd-deletion-exon45",
  "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-seltene-molgen-variant-dmd-deletion-exon45</b></p><a name=\"mii-exa-seltene-molgen-variant-dmd-deletion-exon45\"> </a><a name=\"hcmii-exa-seltene-molgen-variant-dmd-deletion-exon45\"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</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-seltene-patient.html\">Max Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)</a></p><p><b>effective</b>: 2024-09-15</p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 10828004}\">Positive</span></p><p><b>note</b>: </p><blockquote><div><p>Deletion des Exons 45 (176 Basen, nicht durch drei teilbar). Das Leseraster verschiebt sich, es entsteht ein vorzeitiges Stopcodon und kein funktionsfaehiges Dystrophin. Duchenne-Muskeldystrophie.</p>\n</div></blockquote><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:2928}\">DMD</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class</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:\">Deleted Exons</span></p><p><b>value</b>: Exon 45</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></div>"
  },
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
          "code" : "laboratory"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "69548-6",
        "display" : "Genetic variant assessment"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/mii-exa-seltene-patient"
  },
  "effectiveDateTime" : "2024-09-15",
  "valueCodeableConcept" : {
    "coding" : [
      {
        "system" : "http://snomed.info/sct",
        "code" : "10828004",
        "display" : "Positive"
      }
    ]
  },
  "note" : [
    {
      "text" : "Deletion des Exons 45 (176 Basen, nicht durch drei teilbar). Das Leseraster verschiebt sich, es entsteht ein vorzeitiges Stopcodon und kein funktionsfaehiges Dystrophin. Duchenne-Muskeldystrophie."
    }
  ],
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48018-6",
            "display" : "Gene studied [ID]"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://www.genenames.org/geneId",
            "code" : "HGNC:2928",
            "display" : "DMD"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48002-0",
            "display" : "Genomic source class"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "LA6683-2",
            "display" : "Germline"
          }
        ]
      }
    },
    {
      "code" : {
        "text" : "Deleted Exons"
      },
      "valueString" : "Exon 45"
    },
    {
      "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"
          }
        ]
      }
    }
  ]
}