{ "description": "Retrieve metadata about sequencing studies performed on a subject.", "_filename": "OperationDefinition-find-study-metadata.json", "package_name": "hl7.fhir.uv.genomics-reporting", "date": "2024-12-12T20:43:36+00:00", "system": false, "publisher": "HL7 International / Clinical Genomics", "instance": false, "jurisdiction": [ { "coding": [ { "code": "001", "system": "http://unstats.un.org/unsd/methods/m49/m49.htm", "display": "World" } ] } ], "name": "FindStudyMetadata", "type": "true", "experimental": null, "resourceType": "OperationDefinition", "title": "Find Study Metadata", "package_version": "3.0.0", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg", "valueCode": "cg" } ], "status": "active", "id": "23b8159e-8981-4fea-98e9-4dd9ff19d522", "kind": "operation", "url": "http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-study-metadata", "code": "match", "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" } ] } ], "parameter": [ { "max": "1", "min": 1, "use": "in", "name": "subject", "type": "string", "searchType": "reference", "documentation": "The subject of interest." }, { "max": "*", "min": 0, "use": "in", "name": "testIdentifiers", "type": "string", "searchType": "token", "documentation": "List of test identifiers. Metadata for each test is returned." }, { "max": "1", "min": 0, "use": "in", "name": "testDateRange", "type": "Period", "documentation": "Metadata for each test performed during the range is returned." }, { "max": "*", "min": 0, "use": "in", "name": "specimenIdentifiers", "type": "string", "searchType": "token", "documentation": "List of specimen identifiers. Metadata for each test based on a supplied specimen identifier is returned." }, { "max": "*", "min": 0, "use": "in", "name": "ranges", "type": "string", "searchType": "special", "documentation": "List of regions for which additional study information is sought. If ranges are supplied, then each returned test will include studied and uncallable regions. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820')." }, { "max": "*", "min": 0, "use": "out", "name": "tests", "part": [ { "max": "1", "min": 1, "use": "out", "name": "testId", "type": "string", "documentation": "test identifier" }, { "max": "1", "min": 1, "use": "out", "name": "testDate", "type": "dateTime", "documentation": "test date" }, { "max": "1", "min": 0, "use": "out", "name": "specimenId", "type": "string", "documentation": "specimen identifier" }, { "max": "1", "min": 0, "use": "out", "name": "genomicBuild", "type": "CodeableConcept", "documentation": "preferred codes: https://loinc.org/LL1040-6/" }, { "max": "1", "min": 0, "use": "out", "name": "dnaChangeType", "type": "CodeableConcept", "documentation": "preferred codes: http://www.sequenceontology.org/browser/current_release/term/SO:0002072" }, { "max": "1", "min": 0, "use": "out", "name": "regionStudied", "type": "string", "documentation": "List of non-overlapping regions, each in zero-based RefSeq:Integer-range format; or 'unknown'" }, { "max": "1", "min": 0, "use": "out", "name": "uncallableRegions", "type": "string", "documentation": "List of non-overlapping regions, each in zero-based RefSeq:Integer-range format; or 'unknown'" } ] } ] }