Genomics Reporting Implementation Guide
3.0.0 - STU3 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 3.0.0 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 Population Specific Haplotypes - TTL Representation

Active as of 2024-12-12

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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-population-specific-haplotypes"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir: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>"
  ] ; # 
  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-population-specific-haplotypes"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "3.0.0"] ; # 
  fhir:name [ fhir:v "FindPopulationSpecificHaplotypes"] ; # 
  fhir:title [ fhir:v "Find Population Specific Haplotypes"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:kind [ fhir:v "operation"] ; # 
  fhir:date [ fhir:v "2024-12-12T20:13:16+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 count or list of patients having specified genotypes/haplotypes."] ; # 
  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 "haplotypes" ] ;
fhir:use [ fhir:v "in" ] ;
fhir:min [ fhir:v "1"^^xsd:integer ] ;
fhir:max [ fhir:v "*" ] ;
fhir:documentation [ fhir:v "List of haplotypes and/or genotypes being sought. Must be in token or codesystem|code format." ] ;
fhir:type [ fhir:v "string" ] ;
fhir:searchType [ fhir:v "token" ]
  ] [
fhir:name [ fhir:v "genomicSourceClass" ] ;
fhir:use [ fhir:v "in" ] ;
fhir:min [ fhir:v "0"^^xsd:integer ] ;
fhir:max [ fhir:v "1" ] ;
fhir:documentation [ fhir:v "Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class." ] ;
fhir:type [ fhir:v "string" ] ;
fhir:searchType [ fhir:v "token" ]
  ] [
fhir:name [ fhir:v "includePatientList" ] ;
fhir:use [ fhir:v "in" ] ;
fhir:min [ fhir:v "0"^^xsd:integer ] ;
fhir:max [ fhir:v "1" ] ;
fhir:documentation [ fhir:v "Include list of matching patients if set to true. Default=false." ] ;
fhir:type [ fhir:v "boolean" ]
  ] [
fhir:name [ fhir:v "haplotypes" ] ;
fhir:use [ fhir:v "out" ] ;
fhir:min [ fhir:v "1"^^xsd:integer ] ;
fhir:max [ fhir:v "*" ] ;
fhir:documentation [ fhir:v "(one for each haplotype in haplotypeList)" ] ;
    ( fhir:part [
fhir:name [ fhir:v "haplotypeItem" ] ;
fhir:use [ fhir:v "out" ] ;
fhir:min [ fhir:v "1"^^xsd:integer ] ;
fhir:max [ fhir:v "1" ] ;
fhir:documentation [ fhir:v "haplotype/genotype from haplotypeList" ] ;
fhir:type [ fhir:v "string" ]     ] [
fhir:name [ fhir:v "numerator" ] ;
fhir:use [ fhir:v "out" ] ;
fhir:min [ fhir:v "1"^^xsd:integer ] ;
fhir:max [ fhir:v "1" ] ;
fhir:documentation [ fhir:v "Count of patients having this variant" ] ;
fhir:type [ fhir:v "Quantity" ]     ] [
fhir:name [ fhir:v "denominator" ] ;
fhir:use [ fhir:v "out" ] ;
fhir:min [ fhir:v "0"^^xsd:integer ] ;
fhir:max [ fhir:v "1" ] ;
fhir:documentation [ fhir:v "Count of patients in the cohort searched" ] ;
fhir:type [ fhir:v "Quantity" ]     ] [
fhir:name [ fhir:v "subject" ] ;
fhir:use [ fhir:v "out" ] ;
fhir:min [ fhir:v "0"^^xsd:integer ] ;
fhir:max [ fhir:v "*" ] ;
fhir:documentation [ fhir:v "Patient ID. Include if includePatientList=true" ] ;
fhir:type [ fhir:v "string" ]     ] )
  ] ) . #