CodeSystem Genomic Test Types

A CodeSystem to categorise if the service request is for Whole Genome Sequencing (WGS)/non-WGS Rare Disease/Cancer.

HTML View

This code system https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory defines the following codes:

CodeDisplay
rare-disease-wgsRare Disease - WGS
rare-disease-non-wgsRare Disease - Non-WGS
cancer-wgsCancer - WGS
cancer-non-wgsCancer - Non-WGS

Table View

CodeSystem.id[0]UKCore-GenomeSequencingCategory
CodeSystem.url[0]https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory
CodeSystem.version[0]1.0.0
CodeSystem.name[0]UKCoreGenomeSequencingCategory
CodeSystem.title[0]UK Core Genome Sequencing Category
CodeSystem.status[0]active
CodeSystem.date[0]2023-04-28
CodeSystem.publisher[0]HL7 UK
CodeSystem.contact[0].name[0]HL7 UK
CodeSystem.contact[0].telecom[0].system[0]email
CodeSystem.contact[0].telecom[0].value[0]ukcore@hl7.org.uk
CodeSystem.contact[0].telecom[0].use[0]work
CodeSystem.contact[0].telecom[0].rank[0]1
CodeSystem.description[0]A CodeSystem to categorise if the service request is for Whole Genome Sequencing (WGS)/non-WGS Rare Disease/Cancer.
CodeSystem.copyright[0]Copyright © 2021+ HL7 UK Licensed under the Apache License, Version 2.0 (the "License"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an "AS IS" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html.
CodeSystem.caseSensitive[0]True
CodeSystem.content[0]complete
CodeSystem.concept[0].code[0]rare-disease-wgs
CodeSystem.concept[0].display[0]Rare Disease - WGS
CodeSystem.concept[1].code[0]rare-disease-non-wgs
CodeSystem.concept[1].display[0]Rare Disease - Non-WGS
CodeSystem.concept[2].code[0]cancer-wgs
CodeSystem.concept[2].display[0]Cancer - WGS
CodeSystem.concept[3].code[0]cancer-non-wgs
CodeSystem.concept[3].display[0]Cancer - Non-WGS

XML View

<CodeSystem xmlns="http://hl7.org/fhir">
    <id value="UKCore-GenomeSequencingCategory" />
    <url value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" />
    <version value="1.0.0" />
    <name value="UKCoreGenomeSequencingCategory" />
    <title value="UK Core Genome Sequencing Category" />
    <status value="active" />
    <date value="2023-04-28" />
    <publisher value="HL7 UK" />
    <contact>
        <name value="HL7 UK" />
        <telecom>
            <system value="email" />
            <value value="ukcore@hl7.org.uk" />
            <use value="work" />
            <rank value="1" />
        </telecom>
    </contact>
    <description value="A CodeSystem to categorise if the service request is for Whole Genome Sequencing (WGS)/non-WGS Rare Disease/Cancer." />
    <copyright value="Copyright &#169; 2021+ HL7 UK Licensed under the Apache License, Version 2.0 (the &quot;License&quot;); you may not use this file except in compliance with the License. You may obtain a copy of the License at  http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an &quot;AS IS&quot; BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7&#174; FHIR&#174; standard Copyright &#169; 2011+ HL7 The HL7&#174; FHIR&#174; standard is used under the FHIR license. You may obtain a copy of the FHIR license at  https://www.hl7.org/fhir/license.html." />
    <caseSensitive value="true" />
    <content value="complete" />
    <concept>
        <code value="rare-disease-wgs" />
        <display value="Rare Disease - WGS" />
    </concept>
    <concept>
        <code value="rare-disease-non-wgs" />
        <display value="Rare Disease - Non-WGS" />
    </concept>
    <concept>
        <code value="cancer-wgs" />
        <display value="Cancer - WGS" />
    </concept>
    <concept>
        <code value="cancer-non-wgs" />
        <display value="Cancer - Non-WGS" />
    </concept>
</CodeSystem>

JSON View

{
    "resourceType": "CodeSystem",
    "id": "UKCore-GenomeSequencingCategory",
    "url": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory",
    "version": "1.0.0",
    "name": "UKCoreGenomeSequencingCategory",
    "title": "UK Core Genome Sequencing Category",
    "status": "active",
    "date": "2023-04-28",
    "publisher": "HL7 UK",
    "contact":  [
        {
            "name": "HL7 UK",
            "telecom":  [
                {
                    "system": "email",
                    "value": "ukcore@hl7.org.uk",
                    "use": "work",
                    "rank": 1
                }
            ]
        }
    ],
    "description": "A CodeSystem to categorise if the service request is for Whole Genome Sequencing (WGS)/non-WGS Rare Disease/Cancer.",
    "copyright": "Copyright © 2021+ HL7 UK Licensed under the Apache License, Version 2.0 (the \"License\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at  http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \"AS IS\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at  https://www.hl7.org/fhir/license.html.",
    "caseSensitive": true,
    "content": "complete",
    "concept":  [
        {
            "code": "rare-disease-wgs",
            "display": "Rare Disease - WGS"
        },
        {
            "code": "rare-disease-non-wgs",
            "display": "Rare Disease - Non-WGS"
        },
        {
            "code": "cancer-wgs",
            "display": "Cancer - WGS"
        },
        {
            "code": "cancer-non-wgs",
            "display": "Cancer - Non-WGS"
        }
    ]
}