Observation-example-diplotype1.json

Example of diplotype data (with haplotypes observation as reference)

{
  "resourceType": "Observation",
  "id": "example-diplotype1",
  "text": {
    "status": "generated",
    "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: example-diplotype1</p><p><b>status</b>: final</p><p><b>code</b>: Diplotype Call <span>(Details : {SNOMED CT code '363779003' = '363779003', given as 'Genotype determination'})</span></p><p><b>subject</b>: <a>J*********** C***********</a></p><p><b>issued</b>: 03/04/2013 3:30:10 PM</p><p><b>specimen</b>: <a>Molecular Specimen ID: MLD45-Z4-1234</a></p><blockquote><p><b>related</b></p><p><b>type</b>: derived-from</p><p><b>target</b>: <a>Observation/example-haplotype1</a></p></blockquote><blockquote><p><b>related</b></p><p><b>type</b>: derived-from</p><p><b>target</b>: <a>Observation/example-haplotype2</a></p></blockquote></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",
        "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"
  },
  "related": [
    {
      "type": "derived-from",
      "target": {
        "reference": "Observation/example-haplotype1"
      }
    },
    {
      "type": "derived-from",
      "target": {
        "reference": "Observation/example-haplotype2"
      }
    }
  ]
}