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Packagehl7.fhir.uv.genomics-reporting.r4
Resource TypeCodeSystem
IdCodeSystem-variant-confidence-status-cs.json
FHIR VersionR4

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Narrative

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

Generated Narrative: CodeSystem variant-confidence-status-cs

This case-sensitive code system http://terminology.hl7.org/CodeSystem/variant-confidence-status-cs defines the following codes:

CodeDisplayDefinition
high HighHigh confidence true positive variant call. Suitable for clinical reporting.
intermediate IntermediateCandidate true positive variant call. Unable to confirm without additional testing.
low LowHigh confidence false positive variant call.

Source1

{
  "resourceType": "CodeSystem",
  "id": "variant-confidence-status-cs",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode": "cg"
    }
  ],
  "url": "http://terminology.hl7.org/CodeSystem/variant-confidence-status-cs",
  "version": "3.0.0",
  "name": "VariantConfidenceStatusCS",
  "title": "Variant Confidence Status Codes",
  "status": "active",
  "experimental": true,
  "date": "2024-12-12T21:16:09+00:00",
  "publisher": "HL7 International / Clinical Genomics",
  "contact": [
    {
      "name": "HL7 International / Clinical Genomics",
      "telecom": [
        {
          "system": "url",
          "value": "http://www.hl7.org/Special/committees/clingenomics"
        },
        {
          "system": "email",
          "value": "cg@lists.HL7.org"
        }
      ]
    }
  ],
  "description": "A code that represents the confidence of a true positive variant call.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code": "001",
          "display": "World"
        }
      ]
    }
  ],
  "caseSensitive": true,
  "content": "complete",
  "count": 3,
  "concept": [
    {
      "code": "high",
      "display": "High",
      "definition": "High confidence true positive variant call. Suitable for clinical reporting."
    },
    {
      "code": "intermediate",
      "display": "Intermediate",
      "definition": "Candidate true positive variant call. Unable to confirm without additional testing."
    },
    {
      "code": "low",
      "display": "Low",
      "definition": "High confidence false positive variant call."
    }
  ]
}