{
  "description": "Retrieve count or list of patients having specified genotypes/haplotypes.",
  "_filename": "OperationDefinition-find-population-specific-haplotypes.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": "FindPopulationSpecificHaplotypes",
  "type": "true",
  "experimental": null,
  "resourceType": "OperationDefinition",
  "title": "Find Population Specific Haplotypes",
  "package_version": "3.0.0",
  "extension": [ {
    "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
    "valueCode": "cg"
  } ],
  "status": "active",
  "id": "23254104-9225-4860-8c93-2e5b75852431",
  "kind": "operation",
  "url": "http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-population-specific-haplotypes",
  "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": "*",
    "min": 1,
    "use": "in",
    "name": "haplotypes",
    "type": "string",
    "searchType": "token",
    "documentation": "List of haplotypes and/or genotypes being sought. Must be in token or codesystem|code format."
  }, {
    "max": "1",
    "min": 0,
    "use": "in",
    "name": "genomicSourceClass",
    "type": "string",
    "searchType": "token",
    "documentation": "Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class."
  }, {
    "max": "1",
    "min": 0,
    "use": "in",
    "name": "includePatientList",
    "type": "boolean",
    "documentation": "Include list of matching patients if set to true. Default=false."
  }, {
    "max": "*",
    "min": 1,
    "use": "out",
    "name": "haplotypes",
    "part": [ {
      "max": "1",
      "min": 1,
      "use": "out",
      "name": "haplotypeItem",
      "type": "string",
      "documentation": "haplotype/genotype from haplotypeList"
    }, {
      "max": "1",
      "min": 1,
      "use": "out",
      "name": "numerator",
      "type": "Quantity",
      "documentation": "Count of patients having this variant"
    }, {
      "max": "1",
      "min": 0,
      "use": "out",
      "name": "denominator",
      "type": "Quantity",
      "documentation": "Count of patients in the cohort searched"
    }, {
      "max": "*",
      "min": 0,
      "use": "out",
      "name": "subject",
      "type": "string",
      "documentation": "Patient ID. Include if includePatientList=true"
    } ],
    "documentation": "(one for each haplotype in haplotypeList)"
  } ]
}