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KazeemHamzatKazeemHamzat
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Retire CodeSystem-Genomics-reason-for-testing
Due to change in name and new code values define in MDS v1.0.5
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‎CodeSystem/CodeSystem-Genomics-rare-diseaseTesting.json‎

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{
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"resourceType": "CodeSystem",
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"id": "rare-diseaseTesting-genomics",
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"url": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
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"version": "0.1.0",
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"name": "RareDiseaseTestingGenomics",
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"title": "Rare Disease Testing Genomics",
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"status": "draft",
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"date": "2026-02-10T00:00:00.000Z",
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"publisher": "NHS England",
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"contact": [
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{
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"name": "NHS England",
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"telecom": [
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{
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"system": "email",
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"value": "interoperabilityteam@nhs.net"
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}
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]
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}
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],
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"description": "CodeSystem used to identify Genomic test requested based on rare disease suspicion/treatment.",
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"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.",
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"caseSensitive": true,
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"content": "complete",
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"count": 12,
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"concept": [
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{
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"code": "sample-storage",
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"display": "Sample storage"
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},
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{
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"code": "diagnostic",
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"display": "Diagnostic"
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},
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{
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"code": "carrier",
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"display": "Carrier"
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},
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{
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"code": "predictive",
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"display": "Predictive"
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},
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{
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"code": "prenatal-diagnosis",
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"display": "Prenatal diagnosis"
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},
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{
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"code": "family-member-to-aid-interpretation",
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"display": "Family member to aid interpretation of a relative's result/variant"
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},
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{
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"code": "reanalysis",
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"display": "Reanalysis"
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},
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{
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"code": "pharmacogenomics",
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"display": "Pharmacogenomics"
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},
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{
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"code": "other",
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"display": "Other"
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}
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]
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}

‎CodeSystem/CodeSystem-Genomics-reason-for-testing.json‎

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"resourceType": "CodeSystem",
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"id": "reasonfortesting-genomics",
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"url": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"version": "0.3.0",
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"version": "0.2.0",
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"name": "ReasonforTestingGenomics",
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"title": "Reason for Testing Genomics",
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"status": "draft",
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"date": "2026-02-09T00:00:00.000Z",
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"status": "retired",
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"date": "2026-02-10T00:00:00.000Z",
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"publisher": "NHS England",
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"contact": [
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{
@@ -23,7 +23,6 @@
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"copyright": "Copyright © 2023+ 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.",
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"caseSensitive": true,
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"content": "complete",
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"count": 17,
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"concept": [
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{
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"code": "primary-test-request",
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},
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{
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"code": "disease-monitoring-mrdmechanism",
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"display": "Disease monitoring MRD CHIMERISM"
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"display": "Disease Monitoring MRD CHIMERISM"
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},
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{
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"code": "dna-storage",
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"display": "DNA storage"
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"display": "DNA Storage"
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},
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{
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"code": "follow-up",
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"display": "Follow up"
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"display": "Follow Up"
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},
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{
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"code": "predictive",
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},
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{
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"code": "reanalysis-test-request",
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"display": "Reanalysis test request",
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"display": "Reanalysis Test Request",
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"concept": [
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{
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"code": "change-in-presentation",
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"display": "Change in presentation"
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"display": "Change In Presentation"
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},
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{
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"code": "newly-affected-family-member",
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"display": "Newly affected family member"
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"display": "Newly Affected Family Member"
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},
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{
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"code": "new-pregnancy",
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"display": "New pregnancy"
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"display": "New Pregnancy"
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},
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{
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"code": "new-treatment-clinical-management",
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"display": "New treatment/clinical management"
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"display": "New Treatment/Clinical Management"
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},
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{
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"code": "recently-deceased-to-inform-family",
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"display": "Recently deceased to Inform family"
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"display": "Recently Deceased To Inform Family"
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}
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]
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},

‎ValueSet/ValueSet-Genomics-reason-for-testing.json‎

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"compose": {
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"include": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"version": "0.3.0",
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"filter": [
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{
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"property": "concept",
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"op": "is-a",
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"value": "primary-test-request"
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}
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]
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"version": "0.3.0",
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"concept": [
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{
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"code": "reanalysis-test-request",
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"display": "Reanalysis Test Request"
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},
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{
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"code": "other",
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"display": "Other"
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}
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]
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"system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
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"version": "0.1.0"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics",
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},
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"expansion": {
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"identifier": "urn:uuid:3f2a1b9c-2d75-45cc-8ea3-2e747e4b61d4",
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"timestamp": "2026-02-09T00:00:00Z",
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"total": 37,
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"timestamp": "2026-02-10T00:00:00Z",
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"total": 30,
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"contains": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"code": "carrier",
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"display": "Carrier"
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"system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
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"code": "sample-storage",
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"display": "Sample storage"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
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"code": "diagnostic",
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"display": "Diagnostic"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"code": "disease-monitoring-mrdmechanism",
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"display": "Disease monitoring MRD CHIMERISM"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"code": "dna-storage",
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"display": "DNA storage"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"code": "follow-up",
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"display": "Follow up"
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"system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
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"code": "carrier",
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"display": "Carrier"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
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"code": "predictive",
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"display": "Predictive"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"code": "relapse",
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"display": "Relapse"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"code": "staging-or-prognosis",
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"display": "Staging or Prognosis"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"code": "unknown",
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"display": "Unknown"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"code": "reanalysis-test-request",
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"display": "Reanalysis test request"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"code": "change-in-presentation",
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"display": "Change in presentation"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"code": "newly-affected-family-member",
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"display": "Newly affected family member"
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"system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
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"code": "prenatal-diagnosis",
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"display": "Prenatal diagnosis"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"code": "new-pregnancy",
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"display": "New pregnancy"
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"system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
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"code": "family-member-to-aid-interpretation",
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"display": "Family member to aid interpretation of a relative's result/variant"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"code": "new-treatment-clinical-management",
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"display": "New treatment/clinical management"
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"system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
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"code": "reanalysis",
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"display": "Reanalysis"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"code": "recently-deceased-to-inform-family",
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"display": "Recently deceased to inform family"
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"system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
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"code": "pharmacogenomics",
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"display": "Pharmacogenomics"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
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"code": "other",
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"display": "Other"
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},

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