Observation-example-haplotype1.json

Example of haplotype data that is basis of a diplotype data

{
  "resourceType": "Observation",
  "id": "example-haplotype1",
  "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-haplotype1</p><p><b>status</b>: unknown</p><p><b>code</b>: 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>(Details : {LOINC code '55233-1' = 'Genetic analysis master panel - Blood or Tissue by Molecular genetics method', given as '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></p><p><b>subject</b>: <a>J*********** C***********</a></p><p><b>issued</b>: 2013-4-3 15:30:10</p><p><b>value</b>: *35B <span>(Details : {http://pharmakb.org code 'PA165971587' = 'PA165971587', given as '*35B'})</span></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>Sequence/example-pgx-1</a></p></blockquote><blockquote><p><b>related</b></p><p><b>type</b>: derived-from</p><p><b>target</b>: <a>Sequence/example-pgx-2</a></p></blockquote></div>"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org",
            "code": "2625",
            "display": "CYP2D6"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsSequence",
      "valueReference": {
        "reference": "Sequence/example-sequence1"
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsSequence",
      "valueReference": {
        "reference": "Sequence/example-sequence2"
      }
    }
  ],
  "status": "unknown",
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "55233-1",
        "display": "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."
      }
    ]
  },
  "subject": {
    "reference": "Patient/727127",
    "display": "J*********** C***********"
  },
  "issued": "2013-04-03T15:30:10+01:00",
  "valueCodeableConcept": {
    "coding": [
      {
        "system": "http://pharmakb.org",
        "code": "PA165971587",
        "display": "*35B"
      }
    ]
  },
  "specimen": {
    "reference": "Specimen/genetics-example1-somatic",
    "display": "Molecular Specimen ID: MLD45-Z4-1234"
  },
  "related": [
    {
      "type": "derived-from",
      "target": {
        "reference": "Sequence/example-pgx-1"
      }
    },
    {
      "type": "derived-from",
      "target": {
        "reference": "Sequence/example-pgx-2"
      }
    }
  ]
}