Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT 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 -------------------------------------------------------------------

 a fhir:OperationDefinition ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "find-study-metadata"] ; # 
  fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>Parameters</p><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=\"http://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=\"http://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=\"http://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=\"http://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/><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:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ] ;
fhir:value [ fhir:v "cg" ]
  ] ) ; # 
  fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-study-metadata"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "3.0.1-SNAPSHOT"] ; # 
  fhir:name [ fhir:v "FindStudyMetadata"] ; # 
  fhir:title [ fhir:v "Find Study Metadata"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:kind [ fhir:v "operation"] ; # 
  fhir:date [ fhir:v "2024-04-09T13:57:55+00:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "HL7 International / Clinical Genomics"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "HL7 International / Clinical Genomics" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "http://www.hl7.org/Special/committees/clingenomics" ]     ] [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "cg@lists.HL7.org" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "Retrieve metadata about sequencing studies performed on a subject."] ; # 
  fhir:jurisdiction ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ] ;
fhir:code [ fhir:v "001" ] ;
fhir:display [ fhir:v "World" ]     ] )
  ] ) ; # 
  fhir:code [ fhir:v "match"] ; # 
  fhir:system [ fhir:v "false"^^xsd:boolean] ; # 
  fhir:type [ fhir:v "true"^^xsd:boolean] ; # 
  fhir:instance [ fhir:v "false"^^xsd:boolean] ; # 
  fhir:parameter ( [
fhir:name [ fhir:v "subject" ] ;
fhir:use [ fhir:v "in" ] ;
fhir:min [ fhir:v "1"^^xsd:integer ] ;
fhir:max [ fhir:v "1" ] ;
fhir:documentation [ fhir:v "The subject of interest." ] ;
fhir:type [ fhir:v "string" ] ;
fhir:searchType [ fhir:v "reference" ]
  ] [
fhir:name [ fhir:v "testIdentifiers" ] ;
fhir:use [ fhir:v "in" ] ;
fhir:min [ fhir:v "0"^^xsd:integer ] ;
fhir:max [ fhir:v "*" ] ;
fhir:documentation [ fhir:v "List of test identifiers. Metadata for each test is returned." ] ;
fhir:type [ fhir:v "string" ] ;
fhir:searchType [ fhir:v "token" ]
  ] [
fhir:name [ fhir:v "testDateRange" ] ;
fhir:use [ fhir:v "in" ] ;
fhir:min [ fhir:v "0"^^xsd:integer ] ;
fhir:max [ fhir:v "1" ] ;
fhir:documentation [ fhir:v "Metadata for each test performed during the range is returned." ] ;
fhir:type [ fhir:v "Period" ]
  ] [
fhir:name [ fhir:v "specimenIdentifiers" ] ;
fhir:use [ fhir:v "in" ] ;
fhir:min [ fhir:v "0"^^xsd:integer ] ;
fhir:max [ fhir:v "*" ] ;
fhir:documentation [ fhir:v "List of specimen identifiers. Metadata for each test based on a supplied specimen identifier is returned." ] ;
fhir:type [ fhir:v "string" ] ;
fhir:searchType [ fhir:v "token" ]
  ] [
fhir:name [ fhir:v "ranges" ] ;
fhir:use [ fhir:v "in" ] ;
fhir:min [ fhir:v "0"^^xsd:integer ] ;
fhir:max [ fhir:v "*" ] ;
fhir:documentation [ fhir:v "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:type [ fhir:v "string" ] ;
fhir:searchType [ fhir:v "special" ]
  ] [
fhir:name [ fhir:v "tests" ] ;
fhir:use [ fhir:v "out" ] ;
fhir:min [ fhir:v "0"^^xsd:integer ] ;
fhir:max [ fhir:v "*" ] ;
    ( fhir:part [
fhir:name [ fhir:v "testId" ] ;
fhir:use [ fhir:v "out" ] ;
fhir:min [ fhir:v "1"^^xsd:integer ] ;
fhir:max [ fhir:v "1" ] ;
fhir:documentation [ fhir:v "test identifier" ] ;
fhir:type [ fhir:v "string" ]     ] [
fhir:name [ fhir:v "testDate" ] ;
fhir:use [ fhir:v "out" ] ;
fhir:min [ fhir:v "1"^^xsd:integer ] ;
fhir:max [ fhir:v "1" ] ;
fhir:documentation [ fhir:v "test date" ] ;
fhir:type [ fhir:v "dateTime" ]     ] [
fhir:name [ fhir:v "specimenId" ] ;
fhir:use [ fhir:v "out" ] ;
fhir:min [ fhir:v "0"^^xsd:integer ] ;
fhir:max [ fhir:v "1" ] ;
fhir:documentation [ fhir:v "specimen identifier" ] ;
fhir:type [ fhir:v "string" ]     ] [
fhir:name [ fhir:v "genomicBuild" ] ;
fhir:use [ fhir:v "out" ] ;
fhir:min [ fhir:v "0"^^xsd:integer ] ;
fhir:max [ fhir:v "1" ] ;
fhir:documentation [ fhir:v "preferred codes: https://loinc.org/LL1040-6/" ] ;
fhir:type [ fhir:v "CodeableConcept" ]     ] [
fhir:name [ fhir:v "dnaChangeType" ] ;
fhir:use [ fhir:v "out" ] ;
fhir:min [ fhir:v "0"^^xsd:integer ] ;
fhir:max [ fhir:v "1" ] ;
fhir:documentation [ fhir:v "preferred codes: http://www.sequenceontology.org/browser/current_release/term/SO:0002072" ] ;
fhir:type [ fhir:v "CodeableConcept" ]     ] [
fhir:name [ fhir:v "regionStudied" ] ;
fhir:use [ fhir:v "out" ] ;
fhir:min [ fhir:v "0"^^xsd:integer ] ;
fhir:max [ fhir:v "1" ] ;
fhir:documentation [ fhir:v "List of non-overlapping regions, each in zero-based RefSeq:Integer-range format; or 'unknown'" ] ;
fhir:type [ fhir:v "string" ]     ] [
fhir:name [ fhir:v "uncallableRegions" ] ;
fhir:use [ fhir:v "out" ] ;
fhir:min [ fhir:v "0"^^xsd:integer ] ;
fhir:max [ fhir:v "1" ] ;
fhir:documentation [ fhir:v "List of non-overlapping regions, each in zero-based RefSeq:Integer-range format; or 'unknown'" ] ;
fhir:type [ fhir:v "string" ]     ] )
  ] ) . #