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: Genomic Condition 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 "genomic-condition-code"] ; #
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 genomic-condition-code</b></p><a name=\"genomic-condition-code\"> </a><a name=\"hcgenomic-condition-code\"> </a><p>This case-sensitive code system <code>https://nw-gmsa.github.io/CodeSystem/GenomicConditionCode</code> provides <b>a fragment</b> that includes 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\">R361<a name=\"genomic-condition-code-R361\"> </a></td><td>Childhood onset hereditary spastic paraplegia</td></tr><tr><td style=\"white-space:nowrap\">R362<a name=\"genomic-condition-code-R362\"> </a></td><td>Not present in 8.0</td></tr><tr><td style=\"white-space:nowrap\">R372<a name=\"genomic-condition-code-R372\"> </a></td><td>Newborn screening for sickle cell disease in a transfused baby</td></tr><tr><td style=\"white-space:nowrap\">R93<a name=\"genomic-condition-code-R93\"> </a></td><td>Sickle cell, thalassaemia and other haemoglobinopathies</td></tr><tr><td style=\"white-space:nowrap\">R94<a name=\"genomic-condition-code-R94\"> </a></td><td>Not present in 8.0</td></tr><tr><td style=\"white-space:nowrap\">R413<a name=\"genomic-condition-code-R413\"> </a></td><td>Autoinflammatory Disorders</td></tr><tr><td style=\"white-space:nowrap\">R67<a name=\"genomic-condition-code-R67\"> </a></td><td>Monogenic hearing loss</td></tr><tr><td style=\"white-space:nowrap\">R141<a name=\"genomic-condition-code-R141\"> </a></td><td>Monogenic diabetes</td></tr><tr><td style=\"white-space:nowrap\">R142<a name=\"genomic-condition-code-R142\"> </a></td><td>Glucokinase-related fasting hyperglycaemia</td></tr><tr><td style=\"white-space:nowrap\">R201<a name=\"genomic-condition-code-R201\"> </a></td><td>Atypical haemolytic uraemic syndrome</td></tr><tr><td style=\"white-space:nowrap\">M9<a name=\"genomic-condition-code-M9\"> </a></td><td>Thyroid Papillary Carcinoma - Adult</td></tr><tr><td style=\"white-space:nowrap\">M215<a name=\"genomic-condition-code-M215\"> </a></td><td>Endometrial Cancer</td></tr></table></div>"^^rdf:XMLLiteral
] ; #
fhir:url [ fhir:v "https://nw-gmsa.github.io/CodeSystem/GenomicConditionCode"^^xsd:anyURI] ; #
fhir:version [ fhir:v "0.0.1"] ; #
fhir:name [ fhir:v "GenomicConditionCode"] ; #
fhir:title [ fhir:v "Genomic Condition 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 "2nd level Genomic Test Directory Codes"] ; #
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 "fragment"] ; #
fhir:concept ( [
fhir:code [ fhir:v "R361" ] ;
fhir:display [ fhir:v "Childhood onset hereditary spastic paraplegia" ]
] [
fhir:code [ fhir:v "R362" ] ;
fhir:display [ fhir:v "Not present in 8.0" ]
] [
fhir:code [ fhir:v "R372" ] ;
fhir:display [ fhir:v "Newborn screening for sickle cell disease in a transfused baby" ]
] [
fhir:code [ fhir:v "R93" ] ;
fhir:display [ fhir:v "Sickle cell, thalassaemia and other haemoglobinopathies" ]
] [
fhir:code [ fhir:v "R94" ] ;
fhir:display [ fhir:v "Not present in 8.0" ]
] [
fhir:code [ fhir:v "R413" ] ;
fhir:display [ fhir:v "Autoinflammatory Disorders" ]
] [
fhir:code [ fhir:v "R67" ] ;
fhir:display [ fhir:v "Monogenic hearing loss" ]
] [
fhir:code [ fhir:v "R141" ] ;
fhir:display [ fhir:v "Monogenic diabetes" ]
] [
fhir:code [ fhir:v "R142" ] ;
fhir:display [ fhir:v "Glucokinase-related fasting hyperglycaemia" ]
] [
fhir:code [ fhir:v "R201" ] ;
fhir:display [ fhir:v "Atypical haemolytic uraemic syndrome" ]
] [
fhir:code [ fhir:v "M9" ] ;
fhir:display [ fhir:v "Thyroid Papillary Carcinoma - Adult" ]
] [
fhir:code [ fhir:v "M215" ] ;
fhir:display [ fhir:v "Endometrial Cancer" ]
] ) . #
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