Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

ValueSet: Knowledge Base Version Codes

Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/knowledge-base-version-vs Version: 4.0.0-ballot
Standards status: Trial-use Maturity Level: 2 Computable Name: KnowledgeBaseVersionVS

Value set for example terms to display the knowledge base version used to calculate and/or obtain data

References

Logical Definition (CLD)

 

Expansion

Expansion performed internally based on codesystem Knowledge Base Codes v4.0.0-ballot (CodeSystem)

This value set contains 10 concepts

CodeSystemDisplay (en-US)Definition
  gnomadv4.1exomehttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-csgnomad v4.1 exomegnomAD version 4.1 exome
  gnomadv4.1genomehttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-csgnomad v4.1 genomegnomAD version 4.1 genome
  clinvar-april2024http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-csclinvar april 2024Clinvar April 2024 release
  clinvar-march2024http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-csclinvar march 2024Clinvar March 2024 release
  1000genomesv4.1.0http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs1000genomes v4.1.01000genomes version 4.1.0
  civicv1.2.0http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cscivic v1.2.0CIViC version 1.2.0
  graspv2.1.0http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-csgrasp v2.1.0GRASP version 2.1.0
  oncokbv1.5.2http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-csoncokb v1.5.2OncoKB version 1.5.2
  pharmgkbv2.3.5http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cspharmgkb v2.3.5PharmGKB version 2.3.5
  phastconsv3.6.0http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-csphascons v.3.6.0PhastCons version 3.6.0

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code