Release 4

Diagnosticreport-genetics-example-2-familyhistory.json

Orders and Observations Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: Device, Encounter, Patient, Practitioner

Raw JSON (canonical form + also see JSON Format Specification)

An example of a genetics test report with Family member history

{
  "resourceType": "Bundle",
  "id": "dg2",
  "type": "collection",
  "entry": [
    {
      "fullUrl": "https://example.com/base/DiagnosticReport/dg2",
      "resource": {
        "resourceType": "DiagnosticReport",
        "id": "dg2",
        "text": {
          "status": "generated",
          "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n\t\t\t\t\t\t<h3>Genetic test Report for Marry Chalmers (MRN: 12345) </h3>\n\t\t\t\t\t\t<pre>\n              Gene                DNAVariation       Status        Interpretation\n              BRCA1                                 Negative\n              BRCA2                 185delAG        Positive         Pathogenic\n          </pre>\n\t\t\t\t\t\t<p> Method: BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc </p>\n\t\t\t\t\t\t<p> Issued: 2015-05-26T15:30:10+01:00</p>\n\t\t\t\t\t\t<p> FamilyMemeberHistory: Mother </p>\n\t\t\t\t\t\t<pre>\n              Gene                 DNAVariation      Status\n              BRCA2                 185delAG        Positive\n          </pre>\n\t\t\t\t\t\t<p> Method: BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc </p>\n\t\t\t\t\t</div>"
        },
        "extension": [
          {
            "url": "http://hl7.org/fhir/StructureDefinition/DiagnosticReport-geneticsFamilyMemberHistory",
            "valueReference": {
              "reference": "FamilyMemberHistory/f1-genetics"
            }
          }
        ],
        "status": "final",
        "category": [
          {
            "coding": [
              {
                "system": "http://snomed.info/sct",
                "code": "15220000",
                "display": "Laboratory test"
              },
              {
                "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
                "code": "LAB"
              }
            ]
          }
        ],
        "code": {
          "coding": [
            {
              "system": "http://loinc.org",
              "code": "55233-1",
              "display": "Genetic analysis master panel"
            }
          ]
        },
        "subject": {
          "reference": "Patient/example",
          "display": "Peter James Chalmers(MRN: 12345)"
        },
        "effectiveDateTime": "2015-05-26T15:30:10+01:00",
        "issued": "2014-05-16T10:28:00+01:00",
        "performer": [
          {
            "reference": "Practitioner/genetics-example2",
            "display": "Molecular Diagnostic Laboratory"
          }
        ],
        "specimen": [
          {
            "reference": "Specimen/genetics-example2",
            "display": "Molecular Specimen ID: MLD45-Z4-1234"
          }
        ],
        "result": [
          {
            "reference": "Observation/ob-genetics-3-1",
            "display": "Genetic analysis for BRAC -1"
          },
          {
            "reference": "Observation/ob-genetics-3-2",
            "display": "Genetic analysis for BRAC -2"
          }
        ]
      }
    },
    {
      "fullUrl": "https://example.com/base/FamilyMemberHistory/f1-genetics",
      "resource": {
        "resourceType": "FamilyMemberHistory",
        "id": "f1-genetics",
        "text": {
          "status": "generated",
          "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: f1-genetics</p><p><b>status</b>: completed</p><p><b>patient</b>: <a>Patient/example</a></p><p><b>relationship</b>: Mother <span>(Details : {http://terminology.hl7.org/CodeSystem/v3-RoleCode code 'MTH' = 'mother', given as 'Mother'})</span></p></div>"
        },
        "extension": [
          {
            "url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation",
            "valueReference": {
              "reference": "Observation/dgf1"
            }
          }
        ],
        "status": "completed",
        "patient": {
          "reference": "Patient/example"
        },
        "relationship": {
          "coding": [
            {
              "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
              "code": "MTH",
              "display": "Mother"
            }
          ]
        }
      }
    }
  ]
}

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.