{ "description": "Backport of http://hl7.org/fhir/genomicstudy-changetype", "_filename": "CodeSystem-genomic-study-change-type-cs.json", "package_name": "hl7.fhir.uv.genomics-reporting", "date": "2024-12-12T20:43:36+00:00", "publisher": "HL7 International / Clinical Genomics", "jurisdiction": [ { "coding": [ { "code": "001", "system": "http://unstats.un.org/unsd/methods/m49/m49.htm", "display": "World" } ] } ], "content": "complete", "name": "GenomicStudyChangeTypeCS", "type": null, "experimental": "true", "resourceType": "CodeSystem", "title": "Genomic Study Change Type CodeSystem", "package_version": "3.0.0", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg", "valueCode": "cg" } ], "status": "active", "id": "03af9964-c41f-4d30-b117-7ed632a4ed0a", "kind": null, "count": 5, "url": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-cs", "concept": [ { "code": "DNA", "display": "DNA change", "definition": "Change that involves Deoxyribonucleic acid (DNA) sequences." }, { "code": "RNA", "display": "RNA change", "definition": "Change that involves Ribonucleic Acid (RNA) sequences." }, { "code": "AA", "display": "Protein/amino Acids change", "definition": "Change that involves Amino Acid (AA) or protein sequences." }, { "code": "CHR", "display": "Chromosomal changes", "definition": "Change that involves number or strcture of chromosomes." }, { "code": "CNV", "display": "Copy number variations", "definition": "Change that involves copy number variations among various genomes." } ], "caseSensitive": true, "version": "3.0.0", "contact": [ { "name": "HL7 International / Clinical Genomics", "telecom": [ { "value": "http://www.hl7.org/Special/committees/clingenomics", "system": "url" }, { "value": "cg@lists.HL7.org", "system": "email" } ] } ] }