Observation-example-diplotype1.json

Example of diplotype data (with haplotypes observation as reference)

{
  "resourceType": "Observation",
  "id": "example-diplotype1",
  "text": {
    "status": "extensions",
    "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p><b>Gene</b>: <span>CYP2C9</span></p><p/><p><b>code</b>: <span>Diplotype Call</span></p><p><b>subject</b>: <a>J*********** C***********</a></p><p><b>issued</b>: 4 Apr. 2013, 1:30:10 am</p><p><b>specimen</b>: <a>Molecular Specimen ID: MLD45-Z4-1234</a></p><p><b>derivedFrom</b>: </p><ul><li><a>Generated Summary: status: unknown; <span>Genetic analysis master panel-- This is the parent OBR for the panel holding all of the associated observations that can be reported with a molecular genetics analysis result.</span>; issued: 4 Apr. 2013, 1:30:10 am; <span>*35B</span></a></li><li><a>Generated Summary: status: unknown; <span>Genetic analysis master panel-- This is the parent OBR for the panel holding all of the associated observations that can be reported with a molecular genetics analysis result.</span>; issued: 4 Apr. 2013, 1:30:10 am; <span>*4</span></a></li></ul></div>"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org",
            "code": "2623",
            "display": "CYP2C9"
          }
        ]
      }
    }
  ],
  "status": "final",
  "code": {
    "coding": [
      {
        "system": "http://snomed.info/sct",
        "code": "363779003",
        "display": "Genotype determination"
      }
    ],
    "text": "Diplotype Call"
  },
  "subject": {
    "reference": "Patient/727127",
    "display": "J*********** C***********"
  },
  "issued": "2013-04-03T15:30:10+01:00",
  "specimen": {
    "reference": "Specimen/genetics-example1-somatic",
    "display": "Molecular Specimen ID: MLD45-Z4-1234"
  },
  "derivedFrom": [
    {
      "reference": "Observation/example-haplotype1"
    },
    {
      "reference": "Observation/example-haplotype2"
    }
  ]
}