{
  "resourceType" : "Observation",
  "id" : "obs-idh-ex",
  "meta" : {
    "profile" : ["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]
  },
  "text" : {
    "status" : "extensions",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-idh-ex</b></p><a name=\"obs-idh-ex\"> </a><a name=\"hcobs-idh-ex\"> </a><div style=\"display: inline-block; background-color: #fbffeb; 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-diagnostic-implication.html\">Diagnostic Implication</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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></p><p><b>subject</b>: <a href=\"Patient-HG00403.html\">Alanine B. Everyone  Unknown, DoB: 1951-01-20 ( Medical Record Number: m234\u00a0(use:\u00a0usual))</a></p><p><b>effective</b>: 2023-06-01</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Some lab</a></p><p><b>derivedFrom</b>: <a href=\"Observation-SNVexample.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>Related artifact</b>: No display for RelatedArtifact  (type: citation; url: https://www.ncbi.nlm.nih.gov/clinvar/variation/53685/#clinical-assertions)</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://purl.obolibrary.org/obo/mondo.owl MONDO:0009061}\">Cystic fibrosis</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 condition-inheritance}\">Condition Inheritance</span></p><p><b>value</b>: <span title=\"Codes:{http://human-phenotype-ontology.org HP:0000007}\">Autosomal recessive inheritance</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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
      "code" : "diagnostic-implication",
      "display" : "Diagnostic Implication"
    }]
  },
  "subject" : {
    "reference" : "Patient/HG00403"
  },
  "effectiveDateTime" : "2023-06-01",
  "performer" : [{
    "reference" : "Organization/ExampleLab"
  }],
  "derivedFrom" : [{
    "reference" : "Observation/SNVexample"
  }],
  "component" : [{
    "extension" : [{
      "url" : "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
      "valueRelatedArtifact" : {
        "type" : "citation",
        "url" : "https://www.ncbi.nlm.nih.gov/clinvar/variation/53685/#clinical-assertions"
      }
    }],
    "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"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81259-4"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://purl.obolibrary.org/obo/mondo.owl",
        "code" : "MONDO:0009061",
        "display" : "cystic fibrosis"
      }],
      "text" : "Cystic fibrosis"
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "condition-inheritance"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://human-phenotype-ontology.org",
        "code" : "HP:0000007",
        "display" : "Autosomal recessive inheritance"
      }]
    }
  }]
}