North West Genomic Medicine Service Alliance, published by NHS North West GMSA. This guide is not an authorized publication; it is the continuous build for version 0.0.7 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/R4/ and changes regularly. See the Directory of published versions
: Genomic Test Outcome Code - 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 "GenomicTestOutcomeCode"] ; #
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: CodeSystem GenomicTestOutcomeCode</b></p><a name=\"GenomicTestOutcomeCode\"> </a><a name=\"hcGenomicTestOutcomeCode\"> </a><p>This case-sensitive code system <code>https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode</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\">311<a name=\"GenomicTestOutcomeCode-311\"> </a></td><td>RESULT CONSISTENT WITH REFERRAL INDICATION</td></tr><tr><td style=\"white-space:nowrap\">312<a name=\"GenomicTestOutcomeCode-312\"> </a></td><td>RESULT PARTIALLY CAUSATIVE OF REFERRAL INDICATION</td></tr><tr><td style=\"white-space:nowrap\">313<a name=\"GenomicTestOutcomeCode-313\"> </a></td><td>GENETIC CAUSE WAS NOT FOUND</td></tr><tr><td style=\"white-space:nowrap\">314<a name=\"GenomicTestOutcomeCode-314\"> </a></td><td>RESULT OF UNCERTAIN SIGNIFICANCE</td></tr><tr><td style=\"white-space:nowrap\">321<a name=\"GenomicTestOutcomeCode-321\"> </a></td><td>VARIANT DETECTED</td></tr><tr><td style=\"white-space:nowrap\">322<a name=\"GenomicTestOutcomeCode-322\"> </a></td><td>VARIANT NOT DETECTED</td></tr><tr><td style=\"white-space:nowrap\">323<a name=\"GenomicTestOutcomeCode-323\"> </a></td><td>FAMILY MEMBER TESTED TO AID INTERPRETATION OF PROBAND’S TEST; NOT INDEPENDENTLY ANALYSED</td></tr><tr><td style=\"white-space:nowrap\">331<a name=\"GenomicTestOutcomeCode-331\"> </a></td><td>VARIANT(S) DETECTED</td></tr><tr><td style=\"white-space:nowrap\">332<a name=\"GenomicTestOutcomeCode-332\"> </a></td><td>VARIANT(S) NOT DETECTED</td></tr><tr><td style=\"white-space:nowrap\">411<a name=\"GenomicTestOutcomeCode-411\"> </a></td><td>ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED CONTRIBUTING TO THE SUSPECTED DIAGNOSIS</td></tr><tr><td style=\"white-space:nowrap\">412<a name=\"GenomicTestOutcomeCode-412\"> </a></td><td>ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH CONTRIBUTES TO AN ALTERNATIVE DIAGNOSIS</td></tr><tr><td style=\"white-space:nowrap\">413<a name=\"GenomicTestOutcomeCode-413\"> </a></td><td>NO ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH REDUCES LIKELIHOOD BUT DOES NOT EXCLUDE (DIFFERENTIAL) DIAGNOSIS/DIAGNOSES</td></tr><tr><td style=\"white-space:nowrap\">421<a name=\"GenomicTestOutcomeCode-421\"> </a></td><td>VARIANT DETECTED – WHERE A TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED</td></tr><tr><td style=\"white-space:nowrap\">422<a name=\"GenomicTestOutcomeCode-422\"> </a></td><td>WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS NOT AVAILABLE</td></tr><tr><td style=\"white-space:nowrap\">423<a name=\"GenomicTestOutcomeCode-423\"> </a></td><td>WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED</td></tr><tr><td style=\"white-space:nowrap\">431<a name=\"GenomicTestOutcomeCode-431\"> </a></td><td>TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION</td></tr><tr><td style=\"white-space:nowrap\">432<a name=\"GenomicTestOutcomeCode-432\"> </a></td><td>NO TARGET DETECTED OR TARGET DETECTED BELOW A LEVEL REQUIRING CLINICAL ACTION</td></tr><tr><td style=\"white-space:nowrap\">961<a name=\"GenomicTestOutcomeCode-961\"> </a></td><td>ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED</td></tr><tr><td style=\"white-space:nowrap\">962<a name=\"GenomicTestOutcomeCode-962\"> </a></td><td>NO ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED</td></tr><tr><td style=\"white-space:nowrap\">971<a name=\"GenomicTestOutcomeCode-971\"> </a></td><td>FAILURE</td></tr><tr><td style=\"white-space:nowrap\">981<a name=\"GenomicTestOutcomeCode-981\"> </a></td><td>ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED IN GENE NOT ASSOCIATED WITH TUMOUR TYPE/INCIDENTAL FINDING</td></tr><tr><td style=\"white-space:nowrap\">991<a name=\"GenomicTestOutcomeCode-991\"> </a></td><td>OTHER (NOT LISTED)</td></tr><tr><td style=\"white-space:nowrap\">992<a name=\"GenomicTestOutcomeCode-992\"> </a></td><td>CAVEATED RESULT</td></tr></table></div>"^^rdf:XMLLiteral
] ; #
fhir:url [ fhir:v "https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode"^^xsd:anyURI] ; #
fhir:version [ fhir:v "0.0.7"] ; #
fhir:name [ fhir:v "GenomicTestOutcomeCode"] ; #
fhir:title [ fhir:v "Genomic Test Outcome Code"] ; #
fhir:status [ fhir:v "draft"] ; #
fhir:experimental [ fhir:v false] ; #
fhir:date [ fhir:v "2025-05-08"^^xsd:date] ; #
fhir:publisher [ fhir:v "NHS North West GMSA"] ; #
fhir:contact ( [
( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.nw-gmsa.nhs.uk/contact-us" ] ] )
] ) ; #
fhir:description [ fhir:v "Test Outcome Code from [NHS England Genomics Test Reporting Specification](https://www.england.nhs.uk/publication/genomics-testing-reporting-specification/)"] ; #
fhir:jurisdiction ( [
( fhir:coding [
fhir:system [ fhir:v "urn:iso:std:iso:3166"^^xsd:anyURI ] ;
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 "23"^^xsd:nonNegativeInteger] ; #
fhir:concept ( [
fhir:code [ fhir:v "311" ] ;
fhir:display [ fhir:v "RESULT CONSISTENT WITH REFERRAL INDICATION" ]
] [
fhir:code [ fhir:v "312" ] ;
fhir:display [ fhir:v "RESULT PARTIALLY CAUSATIVE OF REFERRAL INDICATION" ]
] [
fhir:code [ fhir:v "313" ] ;
fhir:display [ fhir:v "GENETIC CAUSE WAS NOT FOUND" ]
] [
fhir:code [ fhir:v "314" ] ;
fhir:display [ fhir:v "RESULT OF UNCERTAIN SIGNIFICANCE" ]
] [
fhir:code [ fhir:v "321" ] ;
fhir:display [ fhir:v "VARIANT DETECTED" ]
] [
fhir:code [ fhir:v "322" ] ;
fhir:display [ fhir:v "VARIANT NOT DETECTED" ]
] [
fhir:code [ fhir:v "323" ] ;
fhir:display [ fhir:v "FAMILY MEMBER TESTED TO AID INTERPRETATION OF PROBAND’S TEST; NOT INDEPENDENTLY ANALYSED" ]
] [
fhir:code [ fhir:v "331" ] ;
fhir:display [ fhir:v "VARIANT(S) DETECTED" ]
] [
fhir:code [ fhir:v "332" ] ;
fhir:display [ fhir:v "VARIANT(S) NOT DETECTED" ]
] [
fhir:code [ fhir:v "411" ] ;
fhir:display [ fhir:v "ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED CONTRIBUTING TO THE SUSPECTED DIAGNOSIS" ]
] [
fhir:code [ fhir:v "412" ] ;
fhir:display [ fhir:v "ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH CONTRIBUTES TO AN ALTERNATIVE DIAGNOSIS" ]
] [
fhir:code [ fhir:v "413" ] ;
fhir:display [ fhir:v "NO ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH REDUCES LIKELIHOOD BUT DOES NOT EXCLUDE (DIFFERENTIAL) DIAGNOSIS/DIAGNOSES" ]
] [
fhir:code [ fhir:v "421" ] ;
fhir:display [ fhir:v "VARIANT DETECTED – WHERE A TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED" ]
] [
fhir:code [ fhir:v "422" ] ;
fhir:display [ fhir:v "WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS NOT AVAILABLE" ]
] [
fhir:code [ fhir:v "423" ] ;
fhir:display [ fhir:v "WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED" ]
] [
fhir:code [ fhir:v "431" ] ;
fhir:display [ fhir:v "TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION" ]
] [
fhir:code [ fhir:v "432" ] ;
fhir:display [ fhir:v "NO TARGET DETECTED OR TARGET DETECTED BELOW A LEVEL REQUIRING CLINICAL ACTION" ]
] [
fhir:code [ fhir:v "961" ] ;
fhir:display [ fhir:v "ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED" ]
] [
fhir:code [ fhir:v "962" ] ;
fhir:display [ fhir:v "NO ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED" ]
] [
fhir:code [ fhir:v "971" ] ;
fhir:display [ fhir:v "FAILURE" ]
] [
fhir:code [ fhir:v "981" ] ;
fhir:display [ fhir:v "ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED IN GENE NOT ASSOCIATED WITH TUMOUR TYPE/INCIDENTAL FINDING" ]
] [
fhir:code [ fhir:v "991" ] ;
fhir:display [ fhir:v "OTHER (NOT LISTED)" ]
] [
fhir:code [ fhir:v "992" ] ;
fhir:display [ fhir:v "CAVEATED RESULT" ]
] ) . #
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