{
  "resourceType" : "Observation",
  "id" : "mii-exa-molgen-molekulare-konsequenz-cnv-4",
  "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-cnv-4</b></p><a name=\"de-mii-exa-molgen-molekulare-konsequenz-cnv-4\"> </a><a name=\"de-hcmii-exa-molgen-molekulare-konsequenz-cnv-4\"> </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-2.html\">Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Krankenaktennummer\u00a0(use:\u00a0usual,\u00a0))</a></p><p><b>effective</b>: 2022-03-16</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-cnv-4.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>: onkogene Veränderung mögl. Überexpression</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 LA26332-9}\">Likely 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:0002315}, {http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl C36337}\">mögl. Überexpression</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-2"
  },
  "effectiveDateTime" : "2022-03-16",
  "performer" : [{
    "reference" : "Practitioner/mii-exa-molgen-practitioner-lab"
  }],
  "derivedFrom" : [{
    "reference" : "Observation/mii-exa-molgen-variante-cnv-4"
  }],
  "component" : [{
    "code" : {
      "coding" : [{
        "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "conclusion-string"
      }]
    },
    "valueString" : "onkogene Veränderung mögl. Überexpression"
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "53037-8",
        "display" : "Genetic variation clinical significance [Imp]"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "LA26332-9",
        "display" : "Likely 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:0002315",
        "display" : "increased_gene_product_level"
      },
      {
        "system" : "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl",
        "code" : "C36337",
        "display" : "Messenger RNA Overexpression"
      }],
      "text" : "mögl. Überexpression"
    }
  }]
}