Genomics Reporting Implementation Guide
3.0.0 - STU3 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 3.0.0 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

CodeSystem: Knowledge Base Codes (Experimental)

Official URL: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs Version: 3.0.0
Active as of 2025-05-14 Computable Name: KnowledgeBaseCS

This example code systems provides examples on how to properly display the knowledge base version number. Version numbers should always be followed by the letter v and calendar dates are displayed Month Day Year. For clarity the month SHALL be written in full.

This Code system is referenced in the content logical definition of the following value sets:

Generated Narrative: CodeSystem knowledge-base-cs

This case-insensitive code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs defines the following codes:

CodeDisplayDefinition
gnomadv4.1exome gnomad v4.1 exome gnomAD version 4.1 exome
gnomadv4.1genome gnomad v4.1 genome gnomAD version 4.1 genome
clinvar-april2024 clinvar april 2024 Clinvar April 2024 release
clinvar-march2024 clinvar march 2024 Clinvar March 2024 release
1000genomesv4.1.0 1000genomes v4.1.0 1000genomes version 4.1.0
civicv1.2.0 civic v1.2.0 CIViC version 1.2.0
graspv2.1.0 grasp v2.1.0 GRASP version 2.1.0
oncokbv1.5.2 oncokb v1.5.2 OncoKB version 1.5.2
pharmgkbv2.3.5 pharmgkb v2.3.5 PharmGKB version 2.3.5
phastconsv3.6.0 phascons v.3.6.0 PhastCons version 3.6.0