{ "description": "The type of the GenomicStudy.", "compose": { "include": [ { "system": "http://hl7.org/fhir/genomicstudy-type" } ] }, "_filename": "ValueSet-genomicstudy-type.json", "package_name": "hl7.fhir.r5.expansions", "date": "2022-08-17T16:25:11-05:00", "meta": { "profile": [ "http://hl7.org/fhir/StructureDefinition/shareablevalueset" ], "lastUpdated": "2023-03-25T23:21:02.749-05:00" }, "publisher": "HL7 (FHIR Project)", "jurisdiction": [ { "coding": [ { "code": "001", "system": "http://unstats.un.org/unsd/methods/m49/m49.htm", "display": "World" } ] } ], "name": "GenomicStudyType", "type": null, "experimental": "true", "resourceType": "ValueSet", "expansion": { "total": 12, "contains": [ { "code": "alt-splc", "system": "http://hl7.org/fhir/genomicstudy-type", "display": "Alternative splicing detection" }, { "code": "chromatin", "system": "http://hl7.org/fhir/genomicstudy-type", "display": "Chromatin conformation" }, { "code": "cnv", "system": "http://hl7.org/fhir/genomicstudy-type", "display": "CNV detection" }, { "code": "epi-alt-hist", "system": "http://hl7.org/fhir/genomicstudy-type", "display": "Epigenetic Alterations - histone modifications" }, { "code": "epi-alt-dna", "system": "http://hl7.org/fhir/genomicstudy-type", "display": "Epigenetic Alterations -DNA methylation" }, { "code": "fam-var-segr", "system": "http://hl7.org/fhir/genomicstudy-type", "display": "Familial variant segregation" }, { "code": "func-var", "system": "http://hl7.org/fhir/genomicstudy-type", "display": "Functional variation detection" }, { "code": "gene-expression", "system": "http://hl7.org/fhir/genomicstudy-type", "display": "Gene expression profiling" }, { "code": "post-trans-mod", "system": "http://hl7.org/fhir/genomicstudy-type", "display": "Post-translational Modification Identification" }, { "code": "snp", "system": "http://hl7.org/fhir/genomicstudy-type", "display": "SNP Detection" }, { "code": "str", "system": "http://hl7.org/fhir/genomicstudy-type", "display": "STR count" }, { "code": "struc-var", "system": "http://hl7.org/fhir/genomicstudy-type", "display": "Structural variation detection" } ], "parameter": [ { "name": "excludeNested", "valueBoolean": true }, { "name": "includeDesignations", "valueBoolean": true }, { "name": "version", "valueUri": "http://hl7.org/fhir/genomicstudy-type|5.0.0" } ], "timestamp": "2023-03-26T15:22:33+11:00", "identifier": "urn:uuid:390de484-34d4-42b4-8ead-808ae14d02e0" }, "title": "Genomic Study Type", "package_version": "5.0.0", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg", "valueCode": "cg" }, { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status", "valueCode": "trial-use" }, { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm", "valueInteger": 1 } ], "status": "draft", "id": "5adf3222-c0aa-4846-8d19-93b9d105d953", "kind": null, "url": "http://hl7.org/fhir/ValueSet/genomicstudy-type", "identifier": [ { "value": "urn:oid:2.16.840.1.113883.4.642.3.3082", "system": "urn:ietf:rfc:3986" } ], "immutable": false, "version": "5.0.0", "contact": [ { "telecom": [ { "value": "http://hl7.org/fhir", "system": "url" }, { "value": "fhir@lists.hl7.org", "system": "email" } ] } ] }