NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.2.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions
: NW GMSA Codes - TTL Representation
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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:CodeSystem ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "NWGMSA"] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem NWGMSA</b></p><a name=\"NWGMSA\"> </a><a name=\"hcNWGMSA\"> </a><p>This case-sensitive code system <code>https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">SouthEastAsian<a name=\"NWGMSA-SouthEastAsian\"> </a></td><td>South East Asian</td></tr><tr><td style=\"white-space:nowrap\">NorthernEuropean<a name=\"NWGMSA-NorthernEuropean\"> </a></td><td>Northern European</td></tr><tr><td style=\"white-space:nowrap\">JewishNOS<a name=\"NWGMSA-JewishNOS\"> </a></td><td>Jewish NOS</td></tr><tr><td style=\"white-space:nowrap\">IrishTraveller<a name=\"NWGMSA-IrishTraveller\"> </a></td><td>Gypsy/Traveller/ Irish Traveller</td></tr><tr><td style=\"white-space:nowrap\">Traveller<a name=\"NWGMSA-Traveller\"> </a></td><td>Gypsy/Traveller</td></tr><tr><td style=\"white-space:nowrap\">Roma<a name=\"NWGMSA-Roma\"> </a></td><td>Roma</td></tr><tr><td style=\"white-space:nowrap\">AshkenaziJew<a name=\"NWGMSA-AshkenaziJew\"> </a></td><td>Ashkenazi Jew, follower of religion (person)</td></tr><tr><td style=\"white-space:nowrap\">RareAndInheritedDiseasesGeneticTesting<a name=\"NWGMSA-RareAndInheritedDiseasesGeneticTesting\"> </a></td><td>Rare and inherited diseases Genetic Testing (procedure)</td></tr><tr><td style=\"white-space:nowrap\">PreNatalGeneticTesting<a name=\"NWGMSA-PreNatalGeneticTesting\"> </a></td><td>Pre Natal Genetic Testing (procedure)</td></tr><tr><td style=\"white-space:nowrap\">HaemoglobinopathyGeneticTesting<a name=\"NWGMSA-HaemoglobinopathyGeneticTesting\"> </a></td><td>Haemoglobinopathy Genetic Testing (procedure)</td></tr><tr><td style=\"white-space:nowrap\">CancerGeneticTesting<a name=\"NWGMSA-CancerGeneticTesting\"> </a></td><td>Cancer Genetic Testing (procedure)</td></tr><tr><td style=\"white-space:nowrap\">GeneticistEmail<a name=\"NWGMSA-GeneticistEmail\"> </a></td><td>Clinical Geneticist email</td></tr><tr><td style=\"white-space:nowrap\">GeneticistDepartmentEmail<a name=\"NWGMSA-GeneticistDepartmentEmail\"> </a></td><td>Clinical Geneticist department email</td></tr><tr><td style=\"white-space:nowrap\">RODToFollow<a name=\"NWGMSA-RODToFollow\"> </a></td><td>ROD attached or to follow</td></tr><tr><td style=\"white-space:nowrap\">InfectionRiskDetails<a name=\"NWGMSA-InfectionRiskDetails\"> </a></td><td>High infection Risk Details</td></tr><tr><td style=\"white-space:nowrap\">SampleSent<a name=\"NWGMSA-SampleSent\"> </a></td><td>Date and time sample sent</td></tr><tr><td style=\"white-space:nowrap\">TransportUsed<a name=\"NWGMSA-TransportUsed\"> </a></td><td>Transport used</td></tr><tr><td style=\"white-space:nowrap\">SampleSentTo<a name=\"NWGMSA-SampleSentTo\"> </a></td><td>Sample sent to</td></tr><tr><td style=\"white-space:nowrap\">SampleSentToName<a name=\"NWGMSA-SampleSentToName\"> </a></td><td>Name of person who sent sample</td></tr><tr><td style=\"white-space:nowrap\">TESTOUTCOME<a name=\"NWGMSA-TESTOUTCOME\"> </a></td><td>NHS England Genomics Test Outcome</td></tr><tr><td style=\"white-space:nowrap\">230056<a name=\"NWGMSA-230056\"> </a></td><td>What Type of Referral Do You Require?</td></tr><tr><td style=\"white-space:nowrap\">230016<a name=\"NWGMSA-230016\"> </a></td><td>Test Type</td></tr><tr><td style=\"white-space:nowrap\">231284<a name=\"NWGMSA-231284\"> </a></td><td>Please Select R240 Test(s):</td></tr><tr><td style=\"white-space:nowrap\">231285<a name=\"NWGMSA-231285\"> </a></td><td>Please Select R242 Test(s):</td></tr><tr><td style=\"white-space:nowrap\">230027<a name=\"NWGMSA-230027\"> </a></td><td>Email Addresses of Non-MFT Clinicians for Result Reports</td></tr><tr><td style=\"white-space:nowrap\">230037<a name=\"NWGMSA-230037\"> </a></td><td>Please Acknowledge That a DNA Sample Will be Stored in the Laboratory on Completion of Testing</td></tr><tr><td style=\"white-space:nowrap\">230039<a name=\"NWGMSA-230039\"> </a></td><td>Is the Person Ordering the Test the Referring Clinician</td></tr><tr><td style=\"white-space:nowrap\">GENEAP<a name=\"NWGMSA-GENEAP\"> </a></td><td>GENETICS TEST PERFORMABLE</td></tr><tr><td style=\"white-space:nowrap\">unknown<a name=\"NWGMSA-unknown\"> </a></td><td>Unknown</td></tr></table></div>"^^rdf:XMLLiteral ]
] ; #
fhir:url [
fhir:v "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"^^xsd:anyURI ;
fhir:l <https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA>
] ; #
fhir:version [ fhir:v "0.2.1"] ; #
fhir:name [ fhir:v "NWGMSA"] ; #
fhir:title [ fhir:v "NW GMSA Codes"] ; #
fhir:status [ fhir:v "active"] ; #
fhir:experimental [ fhir:v false] ; #
fhir:date [ fhir:v "2025-05-06"^^xsd:date] ; #
fhir:publisher [ fhir:v "NHS North West Genomics"] ; #
fhir:contact ( [
( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.nwgenomics.nhs.uk/contact-us" ] ] )
] ) ; #
fhir:description [ fhir:v "Bucket for local codes"] ; #
fhir:jurisdiction ( [
( fhir:coding [
fhir:system [
fhir:v "urn:iso:std:iso:3166"^^xsd:anyURI ;
fhir:l <urn:iso:std:iso:3166> ] ;
fhir:code [ fhir:v "GB" ] ;
fhir:display [ fhir:v "United Kingdom of Great Britain and Northern Ireland" ] ] )
] ) ; #
fhir:caseSensitive [ fhir:v true] ; #
fhir:content [ fhir:v "complete"] ; #
fhir:count [ fhir:v "29"^^xsd:nonNegativeInteger] ; #
fhir:concept ( [
fhir:code [ fhir:v "SouthEastAsian" ] ;
fhir:display [ fhir:v "South East Asian" ]
] [
fhir:code [ fhir:v "NorthernEuropean" ] ;
fhir:display [ fhir:v "Northern European" ]
] [
fhir:code [ fhir:v "JewishNOS" ] ;
fhir:display [ fhir:v "Jewish NOS" ]
] [
fhir:code [ fhir:v "IrishTraveller" ] ;
fhir:display [ fhir:v "Gypsy/Traveller/ Irish Traveller" ]
] [
fhir:code [ fhir:v "Traveller" ] ;
fhir:display [ fhir:v "Gypsy/Traveller" ]
] [
fhir:code [ fhir:v "Roma" ] ;
fhir:display [ fhir:v "Roma" ]
] [
fhir:code [ fhir:v "AshkenaziJew" ] ;
fhir:display [ fhir:v "Ashkenazi Jew, follower of religion (person)" ]
] [
fhir:code [ fhir:v "RareAndInheritedDiseasesGeneticTesting" ] ;
fhir:display [ fhir:v "Rare and inherited diseases Genetic Testing (procedure)" ]
] [
fhir:code [ fhir:v "PreNatalGeneticTesting" ] ;
fhir:display [ fhir:v "Pre Natal Genetic Testing (procedure)" ]
] [
fhir:code [ fhir:v "HaemoglobinopathyGeneticTesting" ] ;
fhir:display [ fhir:v "Haemoglobinopathy Genetic Testing (procedure)" ]
] [
fhir:code [ fhir:v "CancerGeneticTesting" ] ;
fhir:display [ fhir:v "Cancer Genetic Testing (procedure)" ]
] [
fhir:code [ fhir:v "GeneticistEmail" ] ;
fhir:display [ fhir:v "Clinical Geneticist email" ]
] [
fhir:code [ fhir:v "GeneticistDepartmentEmail" ] ;
fhir:display [ fhir:v "Clinical Geneticist department email" ]
] [
fhir:code [ fhir:v "RODToFollow" ] ;
fhir:display [ fhir:v "ROD attached or to follow" ]
] [
fhir:code [ fhir:v "InfectionRiskDetails" ] ;
fhir:display [ fhir:v "High infection Risk Details" ]
] [
fhir:code [ fhir:v "SampleSent" ] ;
fhir:display [ fhir:v "Date and time sample sent" ]
] [
fhir:code [ fhir:v "TransportUsed" ] ;
fhir:display [ fhir:v "Transport used" ]
] [
fhir:code [ fhir:v "SampleSentTo" ] ;
fhir:display [ fhir:v "Sample sent to" ]
] [
fhir:code [ fhir:v "SampleSentToName" ] ;
fhir:display [ fhir:v "Name of person who sent sample" ]
] [
fhir:code [ fhir:v "TESTOUTCOME" ] ;
fhir:display [ fhir:v "NHS England Genomics Test Outcome" ]
] [
fhir:code [ fhir:v "230056" ] ;
fhir:display [ fhir:v "What Type of Referral Do You Require?" ]
] [
fhir:code [ fhir:v "230016" ] ;
fhir:display [ fhir:v "Test Type" ]
] [
fhir:code [ fhir:v "231284" ] ;
fhir:display [ fhir:v "Please Select R240 Test(s):" ]
] [
fhir:code [ fhir:v "231285" ] ;
fhir:display [ fhir:v "Please Select R242 Test(s):" ]
] [
fhir:code [ fhir:v "230027" ] ;
fhir:display [ fhir:v "Email Addresses of Non-MFT Clinicians for Result Reports" ]
] [
fhir:code [ fhir:v "230037" ] ;
fhir:display [ fhir:v "Please Acknowledge That a DNA Sample Will be Stored in the Laboratory on Completion of Testing" ]
] [
fhir:code [ fhir:v "230039" ] ;
fhir:display [ fhir:v "Is the Person Ordering the Test the Referring Clinician" ]
] [
fhir:code [ fhir:v "GENEAP" ] ;
fhir:display [ fhir:v "GENETICS TEST PERFORMABLE" ]
] [
fhir:code [ fhir:v "unknown" ] ;
fhir:display [ fhir:v "Unknown" ]
] ) . #
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