FHIR IG analytics

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Narrative

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

Source1

{
  "resourceType": "Observation",
  "id": "ATR-insertion-significance",
  "meta": {
    "profile": [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
    ]
  },
  "text": {
    "status": "extensions",
    "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": {
    "reference": "Patient/somaticPatient"
  },
  "effectiveDateTime": "2023-02-01",
  "performer": [
    {
      "reference": "Practitioner/pathologistPractitioner"
    }
  ],
  "derivedFrom": [
    {
      "reference": "Observation/ATR-insertion-var"
    }
  ],
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "53037-8",
            "display": "Genetic variation clinical significance [Imp]"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA26332-9",
            "display": "Likely Pathogenic"
          }
        ]
      }
    },
    {
      "extension": [
        {
          "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent",
          "valueRelatedArtifact": {
            "type": "citation",
            "url": "https://www.jmdjournal.org/cms/attachment/ee43a71b-81de-4cb3-ac5e-2fb9a7d41491/gr2.jpg"
          }
        }
      ],
      "code": {
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            "system": "http://loinc.org",
            "code": "93044-6",
            "display": "Level of evidence"
          }
        ]
      },
      "valueCodeableConcept": {
        "text": "Tier 2C"
      }
    },
    {
      "extension": [
        {
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          "valueRelatedArtifact": {
            "type": "citation",
            "url": "https://www.ncbi.nlm.nih.gov/gene/545#:~:text=ATR%20may%20function%20as%20an,radiation%20when%20ATM%20is%20deficient"
          }
        }
      ],
      "code": {
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            "code": "conclusion-string"
          }
        ]
      },
      "valueString": "The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved ... more"
    }
  ]
}