Obs-genetics-example3-mutationlist.json

ABCB4 gene mutation analysis

{
  "resourceType": "Observation",
  "id": "genetics-example3-mutationlist",
  "text": {
    "status": "generated",
    "div": "<div><p><b>Generated Narrative with Details</b></p><p><b>id</b>: genetics-example3-mutationlist</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></div>"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/geneticsGenomeBuild",
      "valueString": "GRCh 37"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/geneticsGene",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org",
            "code": "5244",
            "display": "ABCB4"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/geneticsSpecies",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://snomed.info/sct",
            "code": "337915000"
          }
        ],
        "text": "Homo sapiens"
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/geneticsResult",
      "valueReference": {
        "reference": "genetics-example3-mutationlist-1"
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/geneticsResult",
      "valueReference": {
        "reference": "genetics-example3-mutationlist-2"
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/geneticsResult",
      "valueReference": {
        "reference": "genetics-example3-mutationlist-3"
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/geneticsResult",
      "valueReference": {
        "reference": "genetics-example3-mutationlist-4"
      }
    }
  ],
  "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"
  }
}