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
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
Expansion performed internally based on codesystem Knowledge Base Codes v4.0.0-ballot (CodeSystem)
This value set contains 10 concepts
Code | System | Display (en-US) | Definition |
gnomadv4.1exome | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs | gnomad v4.1 exome | gnomAD version 4.1 exome |
gnomadv4.1genome | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs | gnomad v4.1 genome | gnomAD version 4.1 genome |
clinvar-april2024 | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs | clinvar april 2024 | Clinvar April 2024 release |
clinvar-march2024 | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs | clinvar march 2024 | Clinvar March 2024 release |
1000genomesv4.1.0 | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs | 1000genomes v4.1.0 | 1000genomes version 4.1.0 |
civicv1.2.0 | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs | civic v1.2.0 | CIViC version 1.2.0 |
graspv2.1.0 | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs | grasp v2.1.0 | GRASP version 2.1.0 |
oncokbv1.5.2 | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs | oncokb v1.5.2 | OncoKB version 1.5.2 |
pharmgkbv2.3.5 | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs | pharmgkb v2.3.5 | PharmGKB version 2.3.5 |
phastconsv3.6.0 | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs | phascons v.3.6.0 | PhastCons 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 |