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FHIR IG analytics

Packagehl7.fhir.us.mcode.r4b
Resource TypeObservation
IdObservation-genomic-variant-somatic-single-nucleotide.json
FHIR VersionR4B

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Narrative

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

Generated Narrative: Observation genomic-variant-somatic-single-nucleotide

status: Final

category: Laboratory

code: Genetic variant assessment

subject: John B. Anyperson Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))

effective: 2019-04-01

performer: Practitioner Owen Oncologist

value: Present

interpretation: Positive (qualifier value)

method: Sequencing

component

code: Gene studied [ID]

value: STK11

component

code: Discrete genetic variant

value: NM_000455.5(STK11):c.725G>A (p.Gly242Glu)

component

code: Genomic DNA change (gHGVS)

value: NM_000455.5:c.725G>A

component

code: Genomic source class [Type]

value: Somatic


Source1

{
  "resourceType": "Observation",
  "id": "genomic-variant-somatic-single-nucleotide",
  "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"
      }
    ]
  },
  "subject": {
    "reference": "Patient/cancer-patient-john-anyperson"
  },
  "effectiveDateTime": "2019-04-01",
  "performer": [
    {
      "reference": "Practitioner/us-core-practitioner-owen-oncologist"
    }
  ],
  "valueCodeableConcept": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA9633-4",
        "display": "Present"
      }
    ]
  },
  "interpretation": [
    {
      "coding": [
        {
          "system": "http://snomed.info/sct",
          "code": "10828004",
          "display": "Positive (qualifier value)"
        }
      ]
    }
  ],
  "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:11389",
            "display": "STK11"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81252-9"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.ncbi.nlm.nih.gov/clinvar",
            "code": "611264",
            "display": "NM_000455.5(STK11):c.725G>A (p.Gly242Glu)"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81290-9"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://varnomen.hgvs.org",
            "code": "NM_000455.5:c.725G>A"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48002-0"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA6684-0",
            "display": "Somatic"
          }
        ]
      }
    }
  ]
}