Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: Find Subject Haplotypes - JSON Representation

Active as of 2023-12-18

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{
  "resourceType" : "OperationDefinition",
  "id" : "find-subject-haplotypes",
  "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>genes</td><td/><td>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#token\">token</a>)</td><td/><td><div><p>List of genes to be searched. Must be in token or codesystem|code format.</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>Supply a list of test identifiers. Only results originating from one of these tests will be 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>Supply a date range. Only results generated during this range will be 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>Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned.</p>\n</div></td></tr><tr><td>IN</td><td>genomicSourceClass</td><td/><td>0..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#token\">token</a>)</td><td/><td><div><p>Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include haplotypes irrespective of genomic source class.</p>\n</div></td></tr><tr><td>OUT</td><td>haplotypes</td><td/><td>1..*</td><td></td><td/><td><div><p>(one for each gene in geneList)</p>\n</div></td></tr><tr><td>OUT</td><td>haplotypes.geneItem</td><td/><td>1..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a></td><td/><td><div><p>gene from geneList</p>\n</div></td></tr><tr><td>OUT</td><td>haplotypes.haplotype</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/observation.html\">Observation</a></td><td/><td><div><p>Haplotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype].</p>\n</div></td></tr><tr><td>OUT</td><td>haplotypes.genotype</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/observation.html\">Observation</a></td><td/><td><div><p>Genotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype].</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-subject-haplotypes",
  "version" : "3.0.0-ballot",
  "name" : "FindSubjectHaplotypes",
  "title" : "Find Subject Haplotypes",
  "status" : "active",
  "kind" : "operation",
  "date" : "2023-12-18T22:45:59+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 haplotypes/genotypes for specified genes.",
  "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" : "genes",
      "use" : "in",
      "min" : 1,
      "max" : "*",
      "documentation" : "List of genes to be searched. Must be in token or codesystem|code format.",
      "type" : "string",
      "searchType" : "token"
    },
    {
      "name" : "testIdentifiers",
      "use" : "in",
      "min" : 0,
      "max" : "*",
      "documentation" : "Supply a list of test identifiers. Only results originating from one of these tests will be returned.",
      "type" : "string",
      "searchType" : "token"
    },
    {
      "name" : "testDateRange",
      "use" : "in",
      "min" : 0,
      "max" : "1",
      "documentation" : "Supply a date range. Only results generated during this range will be returned.",
      "type" : "Period"
    },
    {
      "name" : "specimenIdentifiers",
      "use" : "in",
      "min" : 0,
      "max" : "*",
      "documentation" : "Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned.",
      "type" : "string",
      "searchType" : "token"
    },
    {
      "name" : "genomicSourceClass",
      "use" : "in",
      "min" : 0,
      "max" : "1",
      "documentation" : "Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include haplotypes irrespective of genomic source class.",
      "type" : "string",
      "searchType" : "token"
    },
    {
      "name" : "haplotypes",
      "use" : "out",
      "min" : 1,
      "max" : "*",
      "documentation" : "(one for each gene in geneList)",
      "part" : [
        {
          "name" : "geneItem",
          "use" : "out",
          "min" : 1,
          "max" : "1",
          "documentation" : "gene from geneList",
          "type" : "string"
        },
        {
          "extension" : [
            {
              "url" : "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile",
              "valueUri" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
            }
          ],
          "name" : "haplotype",
          "use" : "out",
          "min" : 0,
          "max" : "*",
          "documentation" : "Haplotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype].",
          "type" : "Observation"
        },
        {
          "extension" : [
            {
              "url" : "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile",
              "valueUri" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
            }
          ],
          "name" : "genotype",
          "use" : "out",
          "min" : 0,
          "max" : "*",
          "documentation" : "Genotypes must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype].",
          "type" : "Observation"
        }
      ]
    }
  ]
}