CodeSystem Rare Disease Testing Genomics

Usage

CodeSystem used to identify Genomic test requested based on rare disease suspicion/treatment.

HTML View

Concepts

This code system https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics defines the following codes:

CodeDisplay
sample-storageSample storage
diagnosticDiagnostic
carrierCarrier
predictivePredictive
prenatal-diagnosisPrenatal diagnosis
family-member-to-aid-interpretationFamily member to aid interpretation of a relative's result/variant
reanalysisReanalysis
pharmacogenomicsPharmacogenomics
otherOther

Table View

CodeSystem.id[0]rare-diseaseTesting-genomics
CodeSystem.url[0]https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics
CodeSystem.version[0]0.1.0
CodeSystem.name[0]RareDiseaseTestingGenomics
CodeSystem.title[0]Rare Disease Testing Genomics
CodeSystem.status[0]draft
CodeSystem.date[0]2026-02-10T00:00:00.000Z
CodeSystem.publisher[0]NHS England
CodeSystem.contact[0].name[0]NHS England
CodeSystem.contact[0].telecom[0].system[0]email
CodeSystem.contact[0].telecom[0].value[0]interoperabilityteam@nhs.net
CodeSystem.description[0]CodeSystem used to identify Genomic test requested based on rare disease suspicion/treatment.
CodeSystem.copyright[0]Copyright © 2026+ NHS England 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.count[0]9
CodeSystem.concept[0].code[0]sample-storage
CodeSystem.concept[0].display[0]Sample storage
CodeSystem.concept[1].code[0]diagnostic
CodeSystem.concept[1].display[0]Diagnostic
CodeSystem.concept[2].code[0]carrier
CodeSystem.concept[2].display[0]Carrier
CodeSystem.concept[3].code[0]predictive
CodeSystem.concept[3].display[0]Predictive
CodeSystem.concept[4].code[0]prenatal-diagnosis
CodeSystem.concept[4].display[0]Prenatal diagnosis
CodeSystem.concept[5].code[0]family-member-to-aid-interpretation
CodeSystem.concept[5].display[0]Family member to aid interpretation of a relative's result/variant
CodeSystem.concept[6].code[0]reanalysis
CodeSystem.concept[6].display[0]Reanalysis
CodeSystem.concept[7].code[0]pharmacogenomics
CodeSystem.concept[7].display[0]Pharmacogenomics
CodeSystem.concept[8].code[0]other
CodeSystem.concept[8].display[0]Other

XML View

<CodeSystem xmlns="http://hl7.org/fhir">
<id value="rare-diseaseTesting-genomics" />
<url value="https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics" />
<version value="0.1.0" />
<name value="RareDiseaseTestingGenomics" />
<title value="Rare Disease Testing Genomics" />
<status value="draft" />
<date value="2026-02-10T00:00:00.000Z" />
<publisher value="NHS England" />
<contact>
<name value="NHS England" />
<telecom>
<system value="email" />
<value value="interoperabilityteam@nhs.net" />
</telecom>
</contact>
<description value="CodeSystem used to identify Genomic test requested based on rare disease suspicion/treatment." />
<copyright value="Copyright © 2026+ NHS England 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 value="true" />
<content value="complete" />
<count value="9" />
<concept>
<code value="sample-storage" />
<display value="Sample storage" />
</concept>
<concept>
<code value="diagnostic" />
<display value="Diagnostic" />
</concept>
<concept>
<code value="carrier" />
<display value="Carrier" />
</concept>
<concept>
<code value="predictive" />
<display value="Predictive" />
</concept>
<concept>
<code value="prenatal-diagnosis" />
<display value="Prenatal diagnosis" />
</concept>
<concept>
<code value="family-member-to-aid-interpretation" />
<display value="Family member to aid interpretation of a relative's result/variant" />
</concept>
<concept>
<code value="reanalysis" />
<display value="Reanalysis" />
</concept>
<concept>
<code value="pharmacogenomics" />
<display value="Pharmacogenomics" />
</concept>
<concept>
<code value="other" />
<display value="Other" />
</concept>
</CodeSystem>

JSON View

{
"resourceType": "CodeSystem",
"id": "rare-diseaseTesting-genomics",
"url": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
"version": "0.1.0",
"name": "RareDiseaseTestingGenomics",
"title": "Rare Disease Testing Genomics",
"status": "draft",
"date": "2026-02-10T00:00:00.000Z",
"publisher": "NHS England",
"contact": [
{
"name": "NHS England",
"telecom": [
{
"system": "email",
"value": "interoperabilityteam@nhs.net"
}
]
}
],
"description": "CodeSystem used to identify Genomic test requested based on rare disease suspicion/treatment.",
"copyright": "Copyright © 2026+ NHS England 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",
"count": 9,
"concept": [
{
"code": "sample-storage",
"display": "Sample storage"
},
{
"code": "diagnostic",
"display": "Diagnostic"
},
{
"code": "carrier",
"display": "Carrier"
},
{
"code": "predictive",
"display": "Predictive"
},
{
"code": "prenatal-diagnosis",
"display": "Prenatal diagnosis"
},
{
"code": "family-member-to-aid-interpretation",
"display": "Family member to aid interpretation of a relative's result/variant"
},
{
"code": "reanalysis",
"display": "Reanalysis"
},
{
"code": "pharmacogenomics",
"display": "Pharmacogenomics"
},
{
"code": "other",
"display": "Other"
}
]
}