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FHIR IG analytics

Packagehl7.fhir.us.mcode.r4
Resource TypeObservation
IdObservation-genomic-variant-jenny-m.json
FHIR VersionR4

Resources that use this resource

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Resources that this resource uses

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Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: Observation genomic-variant-jenny-m

status: Final

category: Laboratory

code: Genetic variant assessment

subject: Jenny M Female, DoB: 1965-01-01 ( Medical Record Number: MRN1234 (use: usual, ))

effective: 2018-03-15

performer: Practitioner Owen Oncologist

value: Present

method: Sequencing

component

code: Gene studied [ID]

value: PALB2

component

code: Discrete genetic variant

value: NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter)

component

code: Genomic DNA change (gHGVS)

value: NC_000016.10:g.23603471G>T

component

code: Genomic source class [Type]

value: Somatic


Source1

{
  "resourceType": "Observation",
  "id": "genomic-variant-jenny-m",
  "meta": {
    "profile": [
      "http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/observation-category",
          "code": "laboratory"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "69548-6",
        "display": "Genetic variant assessment"
      }
    ]
  },
  "subject": {
    "reference": "Patient/cancer-patient-jenny-m"
  },
  "effectiveDateTime": "2018-03-15",
  "performer": [
    {
      "reference": "Practitioner/us-core-practitioner-owen-oncologist"
    }
  ],
  "valueCodeableConcept": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA9633-4",
        "display": "Present"
      }
    ]
  },
  "method": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA26398-0",
        "display": "Sequencing"
      }
    ]
  },
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48018-6"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org",
            "code": "HGNC:26144",
            "display": "PALB2"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81252-9"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.ncbi.nlm.nih.gov/clinvar",
            "code": "128144",
            "display": "NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter)"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81290-9"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://varnomen.hgvs.org",
            "code": "NC_000016.10:g.23603471G>T"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48002-0"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA6684-0",
            "display": "Somatic"
          }
        ]
      }
    }
  ]
}