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: mii-exa-molgen-diagnostische-implikation-srcc-ctnna1

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{
  "resourceType" : "Observation",
  "id" : "mii-exa-molgen-diagnostische-implikation-srcc-ctnna1",
  "meta" : {
    "profile" : [
      🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/diagnostische-implikation|2027.0.0-ballot.1"🔗 ,
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication|3.0.0"
    ]
  },
  "language" : "en",
  "text" : {
    "status" : "extensions",
    "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-molgen-diagnostische-implikation-srcc-ctnna1</b></p><a name=\"mii-exa-molgen-diagnostische-implikation-srcc-ctnna1\"> </a><a name=\"hcmii-exa-molgen-diagnostische-implikation-srcc-ctnna1\"> </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>Related artifact</b>: No display for RelatedArtifact  (type: citation; citation: ClinGen; url: https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2509)</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://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-srcc.html\">Anonymous Patient Male, DoB: 1986-01 ( 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-srcc-ctnna1.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>: Diese Variante wird nach den ACMG/AMP-Kriterien zusammenfasssend als pathogen bewertet entsprechend IARC Class 5.</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://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 716859000}\">Hereditary diffuse carcinoma of stomach (disorder)</span></p></blockquote></div>"
  },
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      "url" : "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
      "valueRelatedArtifact" : {
        "type" : "citation",
        "citation" : "ClinGen",
        "url" : "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2509"
      }
    }
  ],
  "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" : "diagnostic-implication",
        "display" : "Diagnostic Implication"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/mii-exa-molgen-patient-srcc"
  },
  "effectiveDateTime" : "2022-11-30",
  "performer" : [
    {
      🔗 "reference" : "Practitioner/mii-exa-molgen-practitioner-lab"
    }
  ],
  "derivedFrom" : [
    {
      🔗 "reference" : "Observation/mii-exa-molgen-variante-srcc-ctnna1"
    }
  ],
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
            "code" : "conclusion-string"
          }
        ]
      },
      "valueString" : "Diese Variante wird nach den ACMG/AMP-Kriterien zusammenfasssend als pathogen bewertet entsprechend IARC Class 5."
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "53037-8"
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        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
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            "system" : "http://loinc.org",
            "code" : "LA6668-3",
            "display" : "Pathogenic"
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        ]
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    {
      "code" : {
        "coding" : [
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            "system" : "http://loinc.org",
            "code" : "81259-4"
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      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://snomed.info/sct",
            "code" : "716859000",
            "display" : "Hereditary diffuse carcinoma of stomach (disorder)"
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    }
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}