ClinVar Evidence Level Example Codes

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CodeSystem

ClinVar enthält Beispiele für Konzepte der Evidenzstufe, die nicht mit der klinischen Bedeutung verwechselt werden. Diese können auf ClinVar https://www.ncbi.nlm.nih.gov/clinvar/docs/review_status/ gefunden werden.

Canonical: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs

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Das CodeSystem ClinVar Evidence Level Example Codes stammt aus HL7 Genomics Reporting Implementation Guide.

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{
    "resourceType": "CodeSystem",
    "id": "clinvar-evidence-level-custom-cs",
    "text": {
        "status": "generated",
        --- We have skipped the narrative for better readability of the resource ---
    },
    "url": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs",
    "version": "2.0.0",
    "name": "ClinVarEvidenceLevelCustomCS",
    "title": "ClinVar Evidence Level Example Codes",
    "status": "active",
    "date": "2022-05-09T16:53:07+00:00",
    "publisher": "HL7 Clinical Genomics Working Group",
    "contact":  [
        {
            "name": "HL7 Clinical Genomics Working Group",
            "telecom":  [
                {
                    "system": "url",
                    "value": "http://www.hl7.org/Special/committees/clingenomics"
                },
                {
                    "system": "email",
                    "value": "cg@lists.HL7.org"
                }
            ]
        }
    ],
    "description": "ClinVar contains examples of evidence level concepts that are not conflated with clinical significance. These can be found on  ClinVar https://www.ncbi.nlm.nih.gov/clinvar/docs/review_status/ . These examples are informational only, for copyright information contact the relevant source.",
    "jurisdiction":  [
        {
            "coding":  [
                {
                    "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
                    "code": "001",
                    "display": "World"
                }
            ]
        }
    ],
    "caseSensitive": true,
    "content": "complete",
    "count": 5,
    "concept":  [
        {
            "code": "4-star",
            "display": "4 star",
            "definition": "Supported by practice guideline"
        },
        {
            "code": "3-star",
            "display": "3 star",
            "definition": "Supported by expert panel review"
        },
        {
            "code": "2-star",
            "display": "2 star",
            "definition": "Supported by submission by multiple-submitters with documentation of criteria for assertion"
        },
        {
            "code": "1-star",
            "display": "1 star",
            "definition": "Single submitter providing interpretation and documentation of criteria for assertion"
        },
        {
            "code": "no-star",
            "display": "no star",
            "definition": "submitted, no evidence"
        }
    ]
}

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