Obs-genetics-example3-mutationlist-1.json

ABCB4 gene mutation analysis - variant 1

{
  "resourceType": "Observation",
  "id": "genetics-example3-mutationlist-1",
  "text": {
    "status": "generated",
    "div": "<div><p><b>Generated Narrative with Details</b></p><p><b>id</b>: genetics-example3-mutationlist-1</p><p><b>status</b>: final</p><p><b>code</b>: ABCB4 gene mutation analysis <span>(Details : {LOINC code '49874-1' = 'ABCB4 gene mutation analysis in Blood or Tissue by Molecular genetics method Narrative', given as 'ABCB4 gene mutation analysis'})</span></p><p><b>subject</b>: <a>Molecular Lab Patient ID: HOSP-23456</a></p><p><b>performer</b>: <a>Molecular Diagnostic Laboratory</a></p><p><b>specimen</b>: <a>Molecular Specimen ID: MLD45-Z4-1234</a></p><h3>Components</h3><table><tr><td>-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td>*</td><td>Genetic disease sequence variation interpretation <span>(Details : {LOINC code '53037-8' = 'Genetic disease sequence variation interpretation [interpretation] in Blood or Tissue by Molecular genetics method', given as 'Genetic disease sequence variation interpretation'})</span></td><td>Unknown significance <span>(Details : {http://www.genenames.org code 'LA6682-4' = '??', given as 'Unknown significance'})</span></td></tr></table></div>"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/geneticsDNASequenceVariation",
      "valueString": "c.2708T>C"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/geneticsDNARegionName",
      "valueString": "Exon 23"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/geneticsAminoAcidChange",
      "valueString": "p.R969H"
    }
  ],
  "status": "final",
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "49874-1",
        "display": "ABCB4 gene mutation analysis"
      }
    ]
  },
  "subject": {
    "reference": "Patient/genetics-example2",
    "display": "Molecular Lab Patient ID: HOSP-23456"
  },
  "performer": [
    {
      "reference": "Practitioner/genetics-example2",
      "display": "Molecular Diagnostic Laboratory"
    }
  ],
  "specimen": {
    "reference": "Specimen/genetics-example2",
    "display": "Molecular Specimen ID: MLD45-Z4-1234"
  },
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "53037-8",
            "display": "Genetic disease sequence variation interpretation"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org",
            "code": "LA6682-4",
            "display": "Unknown significance"
          }
        ]
      }
    }
  ]
}