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FHIR IG analytics

Packagehl7.fhir.uv.genomics-reporting.r4b
Resource TypeObservation
IdObservation-diagnosticImplication-interact-smn1-smn2.json
FHIR VersionR4B

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Narrative

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

Generated Narrative: Observation diagnosticImplication-interact-smn1-smn2

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: A Newborn

effective: 2019-04-01

performer: Organization some lab

method: Computational analysis

derivedFrom: Observation Genetic variant assessment

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Level of Evidence

value: Very strong evidence pathogenic

component

code: Associated phenotype

value: Spinal muscular atrophy (SMA)


Source1

{
  "resourceType": "Observation",
  "id": "diagnosticImplication-interact-smn1-smn2",
  "meta": {
    "profile": [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/observation-category",
          "code": "laboratory"
        }
      ]
    },
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "GE"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code": "diagnostic-implication",
        "display": "Diagnostic Implication"
      }
    ]
  },
  "subject": {
    "display": "A Newborn"
  },
  "effectiveDateTime": "2019-04-01",
  "performer": [
    {
      "reference": "Organization/ExampleOrg"
    }
  ],
  "method": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA26811-2",
        "display": "Computational analysis"
      }
    ]
  },
  "derivedFrom": [
    {
      "reference": "Observation/obs1-interact-smn1-smn2"
    }
  ],
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "53037-8",
            "display": "Genetic variation clinical significance [Imp]"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA6668-3",
            "display": "Pathogenic"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "93044-6",
            "display": "Level of Evidence"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA30200-2",
            "display": "Very strong evidence pathogenic"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81259-4"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://snomed.info/sct",
            "code": "5262007",
            "display": "Spinal muscular atrophy (disorder)"
          }
        ],
        "text": "Spinal muscular atrophy (SMA)"
      }
    }
  ]
}