{
  "resourceType" : "Observation",
  "id" : "mii-exa-molgen-diagnostische-implikation-comprehensive",
  "meta" : {
    "profile" : ["https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/diagnostische-implikation|2027.0.0-ballot.1"]
  },
  "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-molgen-diagnostische-implikation-comprehensive</b></p><a name=\"mii-exa-molgen-diagnostische-implikation-comprehensive\"> </a><a name=\"hcmii-exa-molgen-diagnostische-implikation-comprehensive\"> </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=\"StructureDefinition-mii-pr-molgen-diagnostische-implikation.html\">MII PR MolGen Diagnostische Implikation</a> version: 2027.0.0-ballot.1</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://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.html\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number\u00a0(use:\u00a0usual,\u00a0))</a></p><p><b>effective</b>: 2024-01-10</p><p><b>derivedFrom</b>: <a href=\"Observation-mii-exa-molgen-variante-comprehensive-pathogenic.html\">Observation Genetic variant assessment</a></p><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 93044-6}\">Level of evidence</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA30201-0}\">Strong evidence 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 763618001}\">Wiedemann Steiner syndrome</span></p></blockquote></div>"
  },
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  {
    "coding" : [{
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      "code" : "GE"
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  "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"
  },
  "effectiveDateTime" : "2024-01-10",
  "derivedFrom" : [{
    "reference" : "Observation/mii-exa-molgen-variante-comprehensive-pathogenic"
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  "component" : [{
    "code" : {
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        "code" : "53037-8"
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    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "LA6668-3",
        "display" : "Pathogenic"
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    }
  },
  {
    "code" : {
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        "system" : "http://loinc.org",
        "code" : "93044-6",
        "display" : "Level of evidence"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "LA30201-0",
        "display" : "Strong evidence pathogenic"
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  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81259-4",
        "display" : "Associated phenotype"
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    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://snomed.info/sct",
        "code" : "763618001",
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}