Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

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

: Find Study Metadata - JSON Representation

Active as of 2024-04-09

Raw json | Download


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