Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

CodeSystem: Genomic Study Change Type CodeSystem (Experimental)

Official URL: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-cs Version: 3.0.0-ballot
Active as of 2023-12-18 Computable Name: GenomicStudyChangeTypeCS

Backport of http://hl7.org/fhir/genomicstudy-changetype

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

This case-sensitive code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-cs defines the following codes:

CodeDisplayDefinition
DNA DNA changeChange that involves Deoxyribonucleic acid (DNA) sequences.
RNA RNA changeChange that involves Ribonucleic Acid (RNA) sequences.
AA Protein/amino Acids changeChange that involves Amino Acid (AA) or protein sequences.
CHR Chromosomal changesChange that involves number or strcture of chromosomes.
CNV Copy number variationsChange that involves copy number variations among various genomes.