ClinVar Evidence Level Example Codes


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


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


Concepts

This code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs defines the following codes:

CodeDisplayDefinition
4-star4 starSupported by practice guideline
3-star3 starSupported by expert panel review
2-star2 starSupported by submission by multiple-submitters with documentation of criteria for assertion
1-star1 starSingle submitter providing interpretation and documentation of criteria for assertion
no-starno starsubmitted, no evidence


{
"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/StructureDefinition/structuredefinition-wg",
"valueCode": "cg"
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs",
"version": "3.0.0",
"name": "ClinVarEvidenceLevelCustomCS",
"title": "ClinVar Evidence Level Example Codes",
"status": "active",
"experimental": true,
"date": "2024-12-12T20:43:36+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": "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.",
{
"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"
}
]
}