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-cibuild 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

• Narrative Content
• XML
• JSON
• TTL

: Find Study Metadata - TTL Representation

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

<http://hl7.org/fhir/OperationDefinition/find-study-metadata> a fhir:OperationDefinition ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "find-study-metadata"] ;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ] ;
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: OperationDefinition find-study-metadata</b></p><a name=\"find-study-metadata\"> </a><a name=\"hcfind-study-metadata\"> </a><h3>Parameters</h3><table class=\"grid\"><tr><td><b>Use</b></td><td><b>Name</b></td><td><b>Scope</b></td><td><b>Cardinality</b></td><td><b>Type</b></td><td><b>Binding</b></td><td><b>Documentation</b></td></tr><tr><td>IN</td><td>subject</td><td/><td>1..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"https://hl7.org/fhir/R4/search.html#reference\">reference</a>)</td><td/><td><div><p>The subject of interest.</p>\n</div></td></tr><tr><td>IN</td><td>testIdentifiers</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"https://hl7.org/fhir/R4/search.html#token\">token</a>)</td><td/><td><div><p>List of test identifiers. Metadata for each test is returned.</p>\n</div></td></tr><tr><td>IN</td><td>testDateRange</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#Period\">Period</a></td><td/><td><div><p>Metadata for each test performed during the range is returned.</p>\n</div></td></tr><tr><td>IN</td><td>specimenIdentifiers</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"https://hl7.org/fhir/R4/search.html#token\">token</a>)</td><td/><td><div><p>List of specimen identifiers. Metadata for each test based on a supplied specimen identifier is returned.</p>\n</div></td></tr><tr><td>IN</td><td>ranges</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a><br/>(<a href=\"https://hl7.org/fhir/R4/search.html#special\">special</a>)</td><td/><td><div><p>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').</p>\n</div></td></tr><tr><td>OUT</td><td>tests</td><td/><td>0..*</td><td/><td/><td/></tr><tr><td>OUT</td><td>tests.testId</td><td/><td>1..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a></td><td/><td><div><p>test identifier</p>\n</div></td></tr><tr><td>OUT</td><td>tests.testDate</td><td/><td>1..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#dateTime\">dateTime</a></td><td/><td><div><p>test date</p>\n</div></td></tr><tr><td>OUT</td><td>tests.specimenId</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a></td><td/><td><div><p>specimen identifier</p>\n</div></td></tr><tr><td>OUT</td><td>tests.genomicBuild</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td/><td><div><p>preferred codes: https://loinc.org/LL1040-6/</p>\n</div></td></tr><tr><td>OUT</td><td>tests.dnaChangeType</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td/><td><div><p>preferred codes: http://www.sequenceontology.org/browser/current_release/term/SO:0002072</p>\n</div></td></tr><tr><td>OUT</td><td>tests.regionStudied</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a></td><td/><td><div><p>List of non-overlapping regions, each in zero-based RefSeq:Integer-range format; or 'unknown'</p>\n</div></td></tr><tr><td>OUT</td><td>tests.uncallableRegions</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a></td><td/><td><div><p>List of non-overlapping regions, each in zero-based RefSeq:Integer-range format; or 'unknown'</p>\n</div></td></tr></table></div>"
  ] ;
  fhir:DomainResource.extension [
     fhir:index 0 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg" ] ;
     fhir:Extension.valueCode [ fhir:value "cg" ]
  ], [
     fhir:index 1 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm" ] ;
     fhir:Extension.valueInteger [
       fhir:value "2"^^xsd:integer ;
       fhir:Element.extension [
         fhir:index 0 ;
         fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom" ] ;
         fhir:Extension.valueCanonical [
           fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting" ;
           fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>
         ]
       ]
     ]
  ], [
     fhir:index 2 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status" ] ;
     fhir:Extension.valueCode [
       fhir:value "trial-use" ;
       fhir:Element.extension [
         fhir:index 0 ;
         fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom" ] ;
         fhir:Extension.valueCanonical [
           fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting" ;
           fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>
         ]
       ]
     ]
  ] ;
  fhir:OperationDefinition.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-study-metadata"] ;
  fhir:OperationDefinition.version [ fhir:value "4.0.0-cibuild"] ;
  fhir:OperationDefinition.name [ fhir:value "FindStudyMetadata"] ;
  fhir:OperationDefinition.title [ fhir:value "Find Study Metadata"] ;
  fhir:OperationDefinition.status [ fhir:value "active"] ;
  fhir:OperationDefinition.kind [ fhir:value "operation"] ;
  fhir:OperationDefinition.date [ fhir:value "2026-09-21T13:24:35+00:00"^^xsd:dateTime] ;
  fhir:OperationDefinition.publisher [ fhir:value "HL7 International / Clinical Genomics"] ;
  fhir:OperationDefinition.contact [
     fhir:index 0 ;
     fhir:ContactDetail.name [ fhir:value "HL7 International / Clinical Genomics" ] ;
     fhir:ContactDetail.telecom [
       fhir:index 0 ;
       fhir:ContactPoint.system [ fhir:value "url" ] ;
       fhir:ContactPoint.value [ fhir:value "http://www.hl7.org/Special/committees/clingenomics" ]
     ], [
       fhir:index 1 ;
       fhir:ContactPoint.system [ fhir:value "email" ] ;
       fhir:ContactPoint.value [ fhir:value "cg@lists.HL7.org" ]
     ]
  ] ;
  fhir:OperationDefinition.description [ fhir:value "Retrieve metadata about sequencing studies performed on a subject."] ;
  fhir:OperationDefinition.jurisdiction [
     fhir:index 0 ;
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       fhir:Coding.system [ fhir:value "http://unstats.un.org/unsd/methods/m49/m49.htm" ] ;
       fhir:Coding.code [ fhir:value "001" ] ;
       fhir:Coding.display [ fhir:value "World" ]
     ]
  ] ;
  fhir:OperationDefinition.code [ fhir:value "match"] ;
  fhir:OperationDefinition.system [ fhir:value "false"^^xsd:boolean] ;
  fhir:OperationDefinition.type [ fhir:value "true"^^xsd:boolean] ;
  fhir:OperationDefinition.instance [ fhir:value "false"^^xsd:boolean] ;
  fhir:OperationDefinition.parameter [
     fhir:index 0 ;
     fhir:OperationDefinition.parameter.name [ fhir:value "subject" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "in" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "1"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "1" ] ;
     fhir:OperationDefinition.parameter.documentation [ fhir:value "The subject of interest." ] ;
     fhir:OperationDefinition.parameter.type [ fhir:value "string" ] ;
     fhir:OperationDefinition.parameter.searchType [ fhir:value "reference" ]
  ], [
     fhir:index 1 ;
     fhir:OperationDefinition.parameter.name [ fhir:value "testIdentifiers" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "in" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "*" ] ;
     fhir:OperationDefinition.parameter.documentation [ fhir:value "List of test identifiers. Metadata for each test is returned." ] ;
     fhir:OperationDefinition.parameter.type [ fhir:value "string" ] ;
     fhir:OperationDefinition.parameter.searchType [ fhir:value "token" ]
  ], [
     fhir:index 2 ;
     fhir:OperationDefinition.parameter.name [ fhir:value "testDateRange" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "in" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "1" ] ;
     fhir:OperationDefinition.parameter.documentation [ fhir:value "Metadata for each test performed during the range is returned." ] ;
     fhir:OperationDefinition.parameter.type [ fhir:value "Period" ]
  ], [
     fhir:index 3 ;
     fhir:OperationDefinition.parameter.name [ fhir:value "specimenIdentifiers" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "in" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "*" ] ;
     fhir:OperationDefinition.parameter.documentation [ fhir:value "List of specimen identifiers. Metadata for each test based on a supplied specimen identifier is returned." ] ;
     fhir:OperationDefinition.parameter.type [ fhir:value "string" ] ;
     fhir:OperationDefinition.parameter.searchType [ fhir:value "token" ]
  ], [
     fhir:index 4 ;
     fhir:OperationDefinition.parameter.name [ fhir:value "ranges" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "in" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "*" ] ;
     fhir:OperationDefinition.parameter.documentation [ fhir:value "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')." ] ;
     fhir:OperationDefinition.parameter.type [ fhir:value "string" ] ;
     fhir:OperationDefinition.parameter.searchType [ fhir:value "special" ]
  ], [
     fhir:index 5 ;
     fhir:OperationDefinition.parameter.name [ fhir:value "tests" ] ;
     fhir:OperationDefinition.parameter.use [ fhir:value "out" ] ;
     fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
     fhir:OperationDefinition.parameter.max [ fhir:value "*" ] ;
     fhir:OperationDefinition.parameter.part [
       fhir:index 0 ;
       fhir:OperationDefinition.parameter.name [ fhir:value "testId" ] ;
       fhir:OperationDefinition.parameter.use [ fhir:value "out" ] ;
       fhir:OperationDefinition.parameter.min [ fhir:value "1"^^xsd:integer ] ;
       fhir:OperationDefinition.parameter.max [ fhir:value "1" ] ;
       fhir:OperationDefinition.parameter.documentation [ fhir:value "test identifier" ] ;
       fhir:OperationDefinition.parameter.type [ fhir:value "string" ]
     ], [
       fhir:index 1 ;
       fhir:OperationDefinition.parameter.name [ fhir:value "testDate" ] ;
       fhir:OperationDefinition.parameter.use [ fhir:value "out" ] ;
       fhir:OperationDefinition.parameter.min [ fhir:value "1"^^xsd:integer ] ;
       fhir:OperationDefinition.parameter.max [ fhir:value "1" ] ;
       fhir:OperationDefinition.parameter.documentation [ fhir:value "test date" ] ;
       fhir:OperationDefinition.parameter.type [ fhir:value "dateTime" ]
     ], [
       fhir:index 2 ;
       fhir:OperationDefinition.parameter.name [ fhir:value "specimenId" ] ;
       fhir:OperationDefinition.parameter.use [ fhir:value "out" ] ;
       fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
       fhir:OperationDefinition.parameter.max [ fhir:value "1" ] ;
       fhir:OperationDefinition.parameter.documentation [ fhir:value "specimen identifier" ] ;
       fhir:OperationDefinition.parameter.type [ fhir:value "string" ]
     ], [
       fhir:index 3 ;
       fhir:OperationDefinition.parameter.name [ fhir:value "genomicBuild" ] ;
       fhir:OperationDefinition.parameter.use [ fhir:value "out" ] ;
       fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
       fhir:OperationDefinition.parameter.max [ fhir:value "1" ] ;
       fhir:OperationDefinition.parameter.documentation [ fhir:value "preferred codes: https://loinc.org/LL1040-6/" ] ;
       fhir:OperationDefinition.parameter.type [ fhir:value "CodeableConcept" ]
     ], [
       fhir:index 4 ;
       fhir:OperationDefinition.parameter.name [ fhir:value "dnaChangeType" ] ;
       fhir:OperationDefinition.parameter.use [ fhir:value "out" ] ;
       fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
       fhir:OperationDefinition.parameter.max [ fhir:value "1" ] ;
       fhir:OperationDefinition.parameter.documentation [ fhir:value "preferred codes: http://www.sequenceontology.org/browser/current_release/term/SO:0002072" ] ;
       fhir:OperationDefinition.parameter.type [ fhir:value "CodeableConcept" ]
     ], [
       fhir:index 5 ;
       fhir:OperationDefinition.parameter.name [ fhir:value "regionStudied" ] ;
       fhir:OperationDefinition.parameter.use [ fhir:value "out" ] ;
       fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
       fhir:OperationDefinition.parameter.max [ fhir:value "1" ] ;
       fhir:OperationDefinition.parameter.documentation [ fhir:value "List of non-overlapping regions, each in zero-based RefSeq:Integer-range format; or 'unknown'" ] ;
       fhir:OperationDefinition.parameter.type [ fhir:value "string" ]
     ], [
       fhir:index 6 ;
       fhir:OperationDefinition.parameter.name [ fhir:value "uncallableRegions" ] ;
       fhir:OperationDefinition.parameter.use [ fhir:value "out" ] ;
       fhir:OperationDefinition.parameter.min [ fhir:value "0"^^xsd:integer ] ;
       fhir:OperationDefinition.parameter.max [ fhir:value "1" ] ;
       fhir:OperationDefinition.parameter.documentation [ fhir:value "List of non-overlapping regions, each in zero-based RefSeq:Integer-range format; or 'unknown'" ] ;
       fhir:OperationDefinition.parameter.type [ fhir:value "string" ]
     ]
  ] .

# - ontology header ------------------------------------------------------------

<http://hl7.org/fhir/OperationDefinition/find-study-metadata.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/OperationDefinition/find-study-metadata.ttl> .