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Resource OperationDefinition/FHIR Server from package hl7.fhir.uv.genomics-reporting#current (47 ms)

Package hl7.fhir.uv.genomics-reporting
Type OperationDefinition
Id Id
FHIR Version R4
Source http://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/OperationDefinition-find-population-specific-haplotypes.html
Url http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-population-specific-haplotypes
Version 3.0.0
Status active
Date 2024-12-12T20:13:16+00:00
Name FindPopulationSpecificHaplotypes
Title Find Population Specific Haplotypes
Experimental False
Realm uv
Authority hl7
Description Retrieve count or list of patients having specified genotypes/haplotypes.
Type true
Kind operation

Resources that use this resource

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Resources that this resource uses

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Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: OperationDefinition find-population-specific-haplotypes

Parameters

UseNameScopeCardinalityTypeBindingDocumentation
INhaplotypes1..*string
(token)

List of haplotypes and/or genotypes being sought. Must be in token or codesystem|code format.

INgenomicSourceClass0..1string
(token)

Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.

INincludePatientList0..1boolean

Include list of matching patients if set to true. Default=false.

OUThaplotypes1..*

(one for each haplotype in haplotypeList)

OUThaplotypes.haplotypeItem1..1string

haplotype/genotype from haplotypeList

OUThaplotypes.numerator1..1Quantity

Count of patients having this variant

OUThaplotypes.denominator0..1Quantity

Count of patients in the cohort searched

OUThaplotypes.subject0..*string

Patient ID. Include if includePatientList=true


Source

{
  "resourceType" : "OperationDefinition",
  "id" : "find-population-specific-haplotypes",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: OperationDefinition find-population-specific-haplotypes</b></p><a name=\"find-population-specific-haplotypes\"> </a><a name=\"hcfind-population-specific-haplotypes\"> </a><a name=\"find-population-specific-haplotypes-en-US\"> </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>haplotypes</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 haplotypes and/or genotypes being sought. Must be in token or codesystem|code format.</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 variants irrespective of genomic source class.</p>\n</div></td></tr><tr><td>IN</td><td>includePatientList</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#boolean\">boolean</a></td><td/><td><div><p>Include list of matching patients if set to true. Default=false.</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 haplotype in haplotypeList)</p>\n</div></td></tr><tr><td>OUT</td><td>haplotypes.haplotypeItem</td><td/><td>1..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a></td><td/><td><div><p>haplotype/genotype from haplotypeList</p>\n</div></td></tr><tr><td>OUT</td><td>haplotypes.numerator</td><td/><td>1..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#Quantity\">Quantity</a></td><td/><td><div><p>Count of patients having this variant</p>\n</div></td></tr><tr><td>OUT</td><td>haplotypes.denominator</td><td/><td>0..1</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#Quantity\">Quantity</a></td><td/><td><div><p>Count of patients in the cohort searched</p>\n</div></td></tr><tr><td>OUT</td><td>haplotypes.subject</td><td/><td>0..*</td><td><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a></td><td/><td><div><p>Patient ID. Include if includePatientList=true</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-population-specific-haplotypes",
  "version" : "3.0.0",
  "name" : "FindPopulationSpecificHaplotypes",
  "title" : "Find Population Specific Haplotypes",
  "status" : "active",
  "kind" : "operation",
  "date" : "2024-12-12T20:13:16+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 count or list of patients having specified genotypes/haplotypes.",
  "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" : "haplotypes",
      "use" : "in",
      "min" : 1,
      "max" : "*",
      "documentation" : "List of haplotypes and/or genotypes being sought. Must be in token or codesystem|code format.",
      "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 variants irrespective of genomic source class.",
      "type" : "string",
      "searchType" : "token"
    },
    {
      "name" : "includePatientList",
      "use" : "in",
      "min" : 0,
      "max" : "1",
      "documentation" : "Include list of matching patients if set to true. Default=false.",
      "type" : "boolean"
    },
    {
      "name" : "haplotypes",
      "use" : "out",
      "min" : 1,
      "max" : "*",
      "documentation" : "(one for each haplotype in haplotypeList)",
      "part" : [
        {
          "name" : "haplotypeItem",
          "use" : "out",
          "min" : 1,
          "max" : "1",
          "documentation" : "haplotype/genotype from haplotypeList",
          "type" : "string"
        },
        {
          "name" : "numerator",
          "use" : "out",
          "min" : 1,
          "max" : "1",
          "documentation" : "Count of patients having this variant",
          "type" : "Quantity"
        },
        {
          "name" : "denominator",
          "use" : "out",
          "min" : 0,
          "max" : "1",
          "documentation" : "Count of patients in the cohort searched",
          "type" : "Quantity"
        },
        {
          "name" : "subject",
          "use" : "out",
          "min" : 0,
          "max" : "*",
          "documentation" : "Patient ID. Include if includePatientList=true",
          "type" : "string"
        }
      ]
    }
  ]
}

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