Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
ValueSets
The ValueSets created specifically for use in Genomics are listed below. Some of the ValueSets listed may still be in draft and pending further changes once requirements for the GMS have been finalised.
- ValueSets
- Genomic-Additional-Info-Type
- Genomic-Business-Status
- Genomic-Task-Code
- Genomic-Task-StatusReason
- ValueSet-Genomic-Coverage
- Genomic-Message-Events
- ValueSet-Genomic-NHSNumber-Unavailable-Reason
- Genomic-Patient-Choice-Category
- Genomic-Patient-Research-Choice
- Genomic-Patient-Guardian-Types
- Genomic-Patient-Role
- Genomic-ReasonforTesting
- Genomic-Sample-Category
- Genomic-Sample-State
- Genomic-Sequencing-Category
- Genomic-Specimen-Collection-SpecialHandling
- Genomic-Test-Types
- Genomic-TypeOf-ReAnalysisTest
- Genomic-FH-SNOMED-CT-Codes
ValueSet Genomics Additional InfoType
| Usage |
|---|
ValueSet to specify reference to additional details of the input`s use as part of the task execution or the output generated from task completion. |
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
AdditionalInfoTypeGenomics
Table View
| ValueSet.id[0] | genomics-additional-infotype |
| ValueSet.url[0] | https://fhir.nhs.uk/ValueSet/genomics-additional-infotype |
| ValueSet.version[0] | 0.1.0 |
| ValueSet.name[0] | GenomicsAdditionalInfoType |
| ValueSet.title[0] | Genomics Additional Information Type |
| ValueSet.status[0] | draft |
| ValueSet.date[0] | 2024-05-31T00:00:00.000Z |
| ValueSet.publisher[0] | NHS England |
| ValueSet.contact[0].name[0] | NHS England |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ValueSet.description[0] | ValueSet to specify reference to additional details of the input`s use as part of the task execution or the output generated from task completion. |
| ValueSet.copyright[0] | 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. |
| ValueSet.compose[0].include[0].system[0] | https://fhir.nhs.uk/CodeSystem/additional-infotype-genomics |
| ValueSet.compose[0].include[0].version[0] | 0.1.0 |
XML View
JSON View
ValueSet Genomics Business Status
| Usage |
|---|
A ValueSet to identify the business status for a Genomic Test Order filler Task |
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
BusinessStatusGenomics
Table View
| ValueSet.id[0] | genomics-business-status |
| ValueSet.url[0] | https://fhir.nhs.uk/ValueSet/genomics-business-status |
| ValueSet.version[0] | 0.1.2 |
| ValueSet.name[0] | GenomicsBusinessStatus |
| ValueSet.title[0] | Genomics Business Status |
| ValueSet.status[0] | draft |
| ValueSet.date[0] | 2024-09-10T10:17:52.3231281+00:00 |
| ValueSet.publisher[0] | NHS England |
| ValueSet.contact[0].name[0] | NHS England |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ValueSet.description[0] | A ValueSet to identify the business status for a Genomic Test Order filler Task |
| ValueSet.copyright[0] | 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. |
| ValueSet.compose[0].include[0].system[0] | https://fhir.nhs.uk/CodeSystem/business-status-genomics |
| ValueSet.compose[0].include[0].version[0] | 0.4.1 |
XML View
JSON View
ValueSet Genomics Task Code
| Usage |
|---|
A ValueSet to identify the type of Task for Genomic Order Management |
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
TaskCodeGenomics
Table View
| ValueSet.id[0] | genomics-task-code |
| ValueSet.url[0] | https://fhir.nhs.uk/ValueSet/genomics-task-code |
| ValueSet.version[0] | 0.2.1 |
| ValueSet.name[0] | GenomicsTaskCode |
| ValueSet.title[0] | Genomics Task Code |
| ValueSet.status[0] | draft |
| ValueSet.date[0] | 2024-09-10T10:17:52.3231281+00:00 |
| ValueSet.publisher[0] | NHS England |
| ValueSet.contact[0].name[0] | NHS England |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ValueSet.description[0] | A ValueSet to identify the type of Task for Genomic Order Management |
| ValueSet.compose[0].include[0].system[0] | https://fhir.nhs.uk/CodeSystem/task-code-genomics |
| ValueSet.compose[0].include[0].version[0] | 0.3.0 |
XML View
JSON View
ValueSet Genomics Task Status Reason
| Usage |
|---|
A ValueSet to identify the reasons for failure states of Tasks for Genomic Order Management |
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
TaskStatusReasonGenomics
Table View
| ValueSet.id[0] | genomics-task-statusReason |
| ValueSet.url[0] | https://fhir.nhs.uk/ValueSet/genomics-task-statusReason |
| ValueSet.version[0] | 0.2.2 |
| ValueSet.name[0] | GenomicsTaskStatusReason |
| ValueSet.title[0] | Genomics Task Status Reason |
| ValueSet.status[0] | draft |
| ValueSet.date[0] | 2024-09-10T10:17:52.3231281+00:00 |
| ValueSet.publisher[0] | NHS England |
| ValueSet.contact[0].name[0] | NHS England |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ValueSet.description[0] | A ValueSet to identify the reasons for failure states of Tasks for Genomic Order Management |
| ValueSet.compose[0].include[0].system[0] | https://fhir.nhs.uk/CodeSystem/task-statusReason-genomics |
| ValueSet.compose[0].include[0].version[0] | 0.3.1 |
XML View
JSON View
ValueSet Genomic Coverage
Usage
A set of codes that define the funding category.
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
UKCoreFundingCategory
Expansion
This expansion was generated on 2024-09-30T12:46:49+00:00
This value set contains 10 concepts
| Code | System | Display |
|---|---|---|
| public | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory | Public |
| nhs-england | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory | NHS England |
| nhs-scotland | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory | NHS Scotland |
| nhs-wales | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory | NHS Wales |
| hsc-northern-ireland | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory | HSC Northern Ireland |
| jersey | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory | Jersey |
| guernsey | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory | Guernsey |
| isle-of-man | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory | Isle of Man |
| overseas-visitor | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory | Overseas Visitor |
| private | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory | Private |
Table View
| ValueSet.id[0] | UKCore-FundingCategory |
| ValueSet.url[0] | https://fhir.hl7.org.uk/ValueSet/UKCore-FundingCategory |
| ValueSet.version[0] | 1.0.0 |
| ValueSet.name[0] | UKCoreFundingCategory |
| ValueSet.title[0] | UK Core Funding Category |
| ValueSet.status[0] | active |
| ValueSet.date[0] | 2023-04-28 |
| ValueSet.publisher[0] | HL7 UK |
| ValueSet.contact[0].name[0] | HL7 UK |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | ukcore@hl7.org.uk |
| ValueSet.contact[0].telecom[0].use[0] | work |
| ValueSet.contact[0].telecom[0].rank[0] | 1 |
| ValueSet.description[0] | A set of codes that define the funding category. |
| ValueSet.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. |
| ValueSet.compose[0].include[0].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| ValueSet.expansion[0].identifier[0] | b641d39a-e7c1-43f3-95a7-f88f3196b968 |
| ValueSet.expansion[0].timestamp[0] | 2024-09-30T12:46:49+00:00 |
| ValueSet.expansion[0].total[0] | 10 |
| ValueSet.expansion[0].contains[0].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| ValueSet.expansion[0].contains[0].code[0] | public |
| ValueSet.expansion[0].contains[0].display[0] | Public |
| ValueSet.expansion[0].contains[1].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| ValueSet.expansion[0].contains[1].code[0] | nhs-england |
| ValueSet.expansion[0].contains[1].display[0] | NHS England |
| ValueSet.expansion[0].contains[2].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| ValueSet.expansion[0].contains[2].code[0] | nhs-scotland |
| ValueSet.expansion[0].contains[2].display[0] | NHS Scotland |
| ValueSet.expansion[0].contains[3].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| ValueSet.expansion[0].contains[3].code[0] | nhs-wales |
| ValueSet.expansion[0].contains[3].display[0] | NHS Wales |
| ValueSet.expansion[0].contains[4].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| ValueSet.expansion[0].contains[4].code[0] | hsc-northern-ireland |
| ValueSet.expansion[0].contains[4].display[0] | HSC Northern Ireland |
| ValueSet.expansion[0].contains[5].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| ValueSet.expansion[0].contains[5].code[0] | jersey |
| ValueSet.expansion[0].contains[5].display[0] | Jersey |
| ValueSet.expansion[0].contains[6].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| ValueSet.expansion[0].contains[6].code[0] | guernsey |
| ValueSet.expansion[0].contains[6].display[0] | Guernsey |
| ValueSet.expansion[0].contains[7].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| ValueSet.expansion[0].contains[7].code[0] | isle-of-man |
| ValueSet.expansion[0].contains[7].display[0] | Isle of Man |
| ValueSet.expansion[0].contains[8].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| ValueSet.expansion[0].contains[8].code[0] | overseas-visitor |
| ValueSet.expansion[0].contains[8].display[0] | Overseas Visitor |
| ValueSet.expansion[0].contains[9].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| ValueSet.expansion[0].contains[9].code[0] | private |
| ValueSet.expansion[0].contains[9].display[0] | Private |
XML View
JSON View
ValueSet Genomic-Message-Events
| Usage |
|---|
A ValueSet to identify the type of Genomics Message |
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
MessageEventsGenomics
Table View
| ValueSet.id[0] | genomics-message-events |
| ValueSet.url[0] | https://fhir.nhs.uk/ValueSet/genomics-message-events |
| ValueSet.version[0] | 0.1.1 |
| ValueSet.name[0] | GenomicsMessageEvents |
| ValueSet.title[0] | Genomics Message Events |
| ValueSet.status[0] | draft |
| ValueSet.date[0] | 2024-09-10T10:17:52.3231281+00:00 |
| ValueSet.publisher[0] | NHS England |
| ValueSet.contact[0].name[0] | NHS England |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ValueSet.description[0] | A ValueSet to identify the type of Genomics Message |
| ValueSet.copyright[0] | 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. |
| ValueSet.compose[0].include[0].system[0] | https://fhir.nhs.uk/CodeSystem/message-events-genomics |
| ValueSet.compose[0].include[0].version[0] | 0.2.0 |
XML View
JSON View
ValueSet Genomic Patient ChoiceCategory
| Usage |
|---|
A ValueSet to identify the categories of sources of obtaining the patient choice (consent) before undergoing Genomic test |
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
PatientChoiceCategoryGenomics
Table View
| ValueSet.id[0] | genomics-patient-choice-category |
| ValueSet.url[0] | https://fhir.nhs.uk/ValueSet/genomics-patient-choice-category |
| ValueSet.version[0] | 0.1.1 |
| ValueSet.name[0] | GenomicsPatientChoiceCategory |
| ValueSet.title[0] | Genomics Patient Choice Category |
| ValueSet.status[0] | draft |
| ValueSet.date[0] | 2024-09-10T10:17:52.3231281+00:00 |
| ValueSet.publisher[0] | NHS England |
| ValueSet.contact[0].name[0] | NHS England |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ValueSet.description[0] | A ValueSet to identify the categories of sources of obtaining the patient choice (consent) before undergoing Genomic test |
| ValueSet.copyright[0] | 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. |
| ValueSet.compose[0].include[0].system[0] | https://fhir.nhs.uk/CodeSystem/patient-choice-category-genomics |
| ValueSet.compose[0].include[0].version[0] | 0.2.0 |
XML View
JSON View
ValueSet Genomic Patient Research Choice
| Usage |
|---|
A ValueSet to identify the categories of sources of obtaining the patient choice (consent) before undergoing Genomic test |
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
PatientChoiceResearchParticipation
Table View
| ValueSet.id[0] | genomics-patient-choice-researchparticipation |
| ValueSet.url[0] | https://fhir.nhs.uk/ValueSet/genomics-patient-choice-researchparticipation |
| ValueSet.version[0] | 0.1.1 |
| ValueSet.name[0] | GenomicsPatientChoiceResearchParticipation |
| ValueSet.title[0] | Genomics Patient Choice Research Participation |
| ValueSet.status[0] | draft |
| ValueSet.date[0] | 2024-09-10T10:17:52.3231281+00:00 |
| ValueSet.publisher[0] | NHS England |
| ValueSet.contact[0].name[0] | NHS England |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ValueSet.description[0] | A ValueSet to identify the categories of sources of obtaining the patient choice (consent) before undergoing Genomic test |
| ValueSet.copyright[0] | 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. |
| ValueSet.compose[0].include[0].system[0] | https://fhir.nhs.uk/CodeSystem/patient-choice-researchparticipation |
| ValueSet.compose[0].include[0].version[0] | 0.2.0 |
XML View
JSON View
ValueSet Genomic Patient Guardian Types
| Usage |
|---|
A ValueSet to identify the category of patient guardian types |
HTML View
This value set includes codes from the following code systems:
The following codes from system:
v3.RoleCodeCode Display PRN Parent GUARD Guardian The following codes from system:
PatientConsulteeGenomicsCode Display consultee Consultee
Table View
| ValueSet.id[0] | genomics-patientguardian-types |
| ValueSet.url[0] | https://fhir.nhs.uk/ValueSet/genomics-patientguardian-types |
| ValueSet.version[0] | 0.1.1 |
| ValueSet.name[0] | GenomicsPatientGuardian |
| ValueSet.title[0] | Genomics Patient Guardian |
| ValueSet.status[0] | draft |
| ValueSet.date[0] | 2024-09-10T10:17:52.3231281+00:00 |
| ValueSet.publisher[0] | NHS England |
| ValueSet.contact[0].name[0] | NHS England |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ValueSet.description[0] | A ValueSet to identify the category of patient guardian types |
| ValueSet.copyright[0] | 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. |
| ValueSet.compose[0].include[0].system[0] | http://terminology.hl7.org/CodeSystem/v3-RoleCode |
| ValueSet.compose[0].include[0].concept[0].code[0] | PRN |
| ValueSet.compose[0].include[0].concept[0].display[0] | Parent |
| ValueSet.compose[0].include[0].concept[1].code[0] | GUARD |
| ValueSet.compose[0].include[0].concept[1].display[0] | Guardian |
| ValueSet.compose[0].include[1].system[0] | https://fhir.nhs.uk/CodeSystem/patient-consultee-genomics |
| ValueSet.compose[0].include[1].version[0] | 0.2.0 |
| ValueSet.compose[0].include[1].concept[0].code[0] | consultee |
| ValueSet.compose[0].include[1].concept[0].display[0] | Consultee |
XML View
JSON View
ValueSet Genomic Patient Role
| Usage |
|---|
A ValueSet used to identify the role of the subject patient in the genomic test (proband vs consultand) |
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
PatientRoleGenomics
Expansion
This expansion was generated on 2025-12-18T00:00:00Z
This value set contains 2 concepts
| Code | System | Display |
|---|---|---|
| proband | https://fhir.nhs.uk/CodeSystem/patient-role-genomics | Proband |
| consultand | https://fhir.nhs.uk/CodeSystem/patient-role-genomics | Consultand |
Table View
| ValueSet.id[0] | genomics-patient-role |
| ValueSet.url[0] | https://fhir.nhs.uk/ValueSet/genomics-patient-role |
| ValueSet.version[0] | 0.1.0 |
| ValueSet.name[0] | GenomicsPatientRole |
| ValueSet.title[0] | Genomics Patient Role |
| ValueSet.status[0] | draft |
| ValueSet.date[0] | 2025-12-18T00:00:00.000Z |
| ValueSet.publisher[0] | NHS England |
| ValueSet.contact[0].name[0] | NHS England |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ValueSet.contact[0].telecom[0].use[0] | work |
| ValueSet.contact[0].telecom[0].rank[0] | 1 |
| ValueSet.description[0] | A ValueSet used to identify the role of the subject patient in the genomic test (proband vs consultand) |
| ValueSet.copyright[0] | Copyright © 2025+ 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. |
| ValueSet.compose[0].include[0].system[0] | https://fhir.nhs.uk/CodeSystem/patient-role-genomics |
| ValueSet.compose[0].include[0].version[0] | 0.1.0 |
| ValueSet.expansion[0].timestamp[0] | 2025-12-18T00:00:00Z |
| ValueSet.expansion[0].total[0] | 2 |
| ValueSet.expansion[0].offset[0] | 0 |
| ValueSet.expansion[0].contains[0].system[0] | https://fhir.nhs.uk/CodeSystem/patient-role-genomics |
| ValueSet.expansion[0].contains[0].code[0] | proband |
| ValueSet.expansion[0].contains[0].display[0] | Proband |
| ValueSet.expansion[0].contains[1].system[0] | https://fhir.nhs.uk/CodeSystem/patient-role-genomics |
| ValueSet.expansion[0].contains[1].code[0] | consultand |
| ValueSet.expansion[0].contains[1].display[0] | Consultand |
XML View
JSON View
ValueSet Genomic Reason for Testing
| Usage |
|---|
A ValueSet use to identify the reason for requesting a genomics test. |
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
ReasonforTestingGenomics
Table View
| ValueSet.id[0] | genomics-reasonfortesting |
| ValueSet.url[0] | https://fhir.nhs.uk/ValueSet/genomics-reasonfortesting |
| ValueSet.version[0] | 0.2.0 |
| ValueSet.name[0] | GenomicsReasonforTesting |
| ValueSet.title[0] | Genomics Reason for Testing |
| ValueSet.status[0] | draft |
| ValueSet.date[0] | 2025-09-09T00:00:00.000Z |
| ValueSet.publisher[0] | NHS England |
| ValueSet.contact[0].name[0] | NHS England |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ValueSet.description[0] | A ValueSet use to identify the reason for requesting a genomics test. |
| ValueSet.copyright[0] | 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. |
| ValueSet.compose[0].include[0].system[0] | https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| ValueSet.compose[0].include[0].version[0] | 0.2.0 |
XML View
JSON View
ValueSet Genomic Sample Category
Usage
A set of codes that define the category of a sample.
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
UKCoreSampleCategory
Expansion
This expansion was generated on 2023-05-04T14:02:57+00:00
This value set contains 2 concepts
| Code | System | Display |
|---|---|---|
| tumour | https://fhir.hl7.org.uk/CodeSystem/UKCore-SampleCategory | Tumour |
| germline | https://fhir.hl7.org.uk/CodeSystem/UKCore-SampleCategory | Germline |
Table View
| ValueSet.id[0] | UKCore-SampleCategory |
| ValueSet.url[0] | https://fhir.hl7.org.uk/ValueSet/UKCore-SampleCategory |
| ValueSet.version[0] | 2.1.0 |
| ValueSet.name[0] | UKCoreSampleCategory |
| ValueSet.title[0] | UK Core Sample Category |
| ValueSet.status[0] | active |
| ValueSet.date[0] | 2023-04-28 |
| ValueSet.publisher[0] | HL7 UK |
| ValueSet.contact[0].name[0] | HL7 UK |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | ukcore@hl7.org.uk |
| ValueSet.contact[0].telecom[0].use[0] | work |
| ValueSet.contact[0].telecom[0].rank[0] | 1 |
| ValueSet.description[0] | A set of codes that define the category of a sample. |
| ValueSet.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. |
| ValueSet.compose[0].include[0].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-SampleCategory |
| ValueSet.expansion[0].identifier[0] | 98bada17-6d7a-4c4a-989a-57f3fda4f4f5 |
| ValueSet.expansion[0].timestamp[0] | 2023-05-04T14:02:57+00:00 |
| ValueSet.expansion[0].total[0] | 2 |
| ValueSet.expansion[0].offset[0] | 0 |
| ValueSet.expansion[0].contains[0].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-SampleCategory |
| ValueSet.expansion[0].contains[0].code[0] | tumour |
| ValueSet.expansion[0].contains[0].display[0] | Tumour |
| ValueSet.expansion[0].contains[1].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-SampleCategory |
| ValueSet.expansion[0].contains[1].code[0] | germline |
| ValueSet.expansion[0].contains[1].display[0] | Germline |
XML View
JSON View
ValueSet Genomic Sample State
Usage
A set of codes that define the category of a sample.
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
v2.0493 - Import all codes from CodeSystem
UKCorePrimarySampleState
Table View
| ValueSet.id[0] | UKCore-SampleState |
| ValueSet.url[0] | https://fhir.hl7.org.uk/ValueSet/UKCore-SampleState |
| ValueSet.version[0] | 1.0.0 |
| ValueSet.name[0] | UKCoreSampleState |
| ValueSet.title[0] | UK Core Sample State |
| ValueSet.status[0] | active |
| ValueSet.date[0] | 2024-10-07 |
| ValueSet.publisher[0] | HL7 UK |
| ValueSet.contact[0].name[0] | HL7 UK |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | ukcore@hl7.org.uk |
| ValueSet.contact[0].telecom[0].use[0] | work |
| ValueSet.contact[0].telecom[0].rank[0] | 1 |
| ValueSet.description[0] | A set of codes used to indicate the sample state/condition. Selected from the Genomics Master Datasets |
| ValueSet.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. |
| ValueSet.compose[0].include[0].system[0] | http://terminology.hl7.org/CodeSystem/v2-0493 |
| ValueSet.compose[0].include[1].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-PrimarySampleState |
XML View
JSON View
ValueSet Genomic Sequencing Category
Usage
A set of codes that define if the service request is for Whole Genome Sequencing (WGS)/non-WGS Rare Disease/Cancer.
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
UKCoreGenomeSequencingCategory
Expansion
This expansion was generated on 2023-05-04T14:47:02+00:00
This value set contains 4 concepts
| Code | System | Display |
|---|---|---|
| rare-disease-wgs | https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory | Rare Disease - WGS |
| rare-disease-non-wgs | https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory | Rare Disease - Non-WGS |
| cancer-wgs | https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory | Cancer - WGS |
| cancer-non-wgs | https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory | Cancer - Non-WGS |
Table View
| ValueSet.id[0] | UKCore-GenomeSequencingCategory |
| ValueSet.url[0] | https://fhir.hl7.org.uk/ValueSet/UKCore-GenomeSequencingCategory |
| ValueSet.version[0] | 1.0.0 |
| ValueSet.name[0] | UKCoreGenomeSequencingCategory |
| ValueSet.title[0] | UK Core Genome Sequencing Category |
| ValueSet.status[0] | active |
| ValueSet.date[0] | 2023-04-28 |
| ValueSet.publisher[0] | HL7 UK |
| ValueSet.contact[0].name[0] | HL7 UK |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | ukcore@hl7.org.uk |
| ValueSet.contact[0].telecom[0].use[0] | work |
| ValueSet.contact[0].telecom[0].rank[0] | 1 |
| ValueSet.description[0] | A set of codes that define if the service request is for Whole Genome Sequencing (WGS)/non-WGS Rare Disease/Cancer. |
| ValueSet.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. |
| ValueSet.compose[0].include[0].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| ValueSet.expansion[0].identifier[0] | bde2a094-9417-4687-8f15-6f93fb38b26b |
| ValueSet.expansion[0].timestamp[0] | 2023-05-04T14:47:02+00:00 |
| ValueSet.expansion[0].total[0] | 4 |
| ValueSet.expansion[0].offset[0] | 0 |
| ValueSet.expansion[0].contains[0].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| ValueSet.expansion[0].contains[0].code[0] | rare-disease-wgs |
| ValueSet.expansion[0].contains[0].display[0] | Rare Disease - WGS |
| ValueSet.expansion[0].contains[1].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| ValueSet.expansion[0].contains[1].code[0] | rare-disease-non-wgs |
| ValueSet.expansion[0].contains[1].display[0] | Rare Disease - Non-WGS |
| ValueSet.expansion[0].contains[2].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| ValueSet.expansion[0].contains[2].code[0] | cancer-wgs |
| ValueSet.expansion[0].contains[2].display[0] | Cancer - WGS |
| ValueSet.expansion[0].contains[3].system[0] | https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| ValueSet.expansion[0].contains[3].code[0] | cancer-non-wgs |
| ValueSet.expansion[0].contains[3].display[0] | Cancer - Non-WGS |
XML View
JSON View
ValueSet Genomics Specimen Collection Special Handling
| Usage |
|---|
A ValueSet use to identify the type of special collection process require to handle some specimen in genomics. |
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
SpecimenCollectionSpecialHandlingGenomics
Table View
| ValueSet.id[0] | genomics-specimen-collection-specialhandling |
| ValueSet.url[0] | https://fhir.nhs.uk/ValueSet/genomics-specimen-collection-specialhandling |
| ValueSet.version[0] | 0.1.0 |
| ValueSet.name[0] | GenomicsSpecimenCollectionSpecialHandling |
| ValueSet.title[0] | Genomics Specimen Collection Special Handling |
| ValueSet.status[0] | draft |
| ValueSet.date[0] | 2024-08-05T00:00:00.000Z |
| ValueSet.publisher[0] | NHS England |
| ValueSet.contact[0].name[0] | NHS England |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ValueSet.description[0] | A ValueSet use to identify the type of special collection process require to handle some specimen in genomics. |
| ValueSet.copyright[0] | 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. |
| ValueSet.compose[0].include[0].system[0] | https://fhir.nhs.uk/CodeSystem/specimen-collection-specialhandling-genomics |
| ValueSet.compose[0].include[0].version[0] | 0.1.0 |
XML View
JSON View
ValueSet Genomic Test Types
| Usage |
|---|
A ValueSet to identify the category of genomic test types |
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
TestTypeGenomics
Table View
| ValueSet.id[0] | genomics-test-types |
| ValueSet.url[0] | https://fhir.nhs.uk/ValueSet/genomics-test-types |
| ValueSet.version[0] | 0.1.1 |
| ValueSet.name[0] | GenomicsTestTypes |
| ValueSet.title[0] | Genomics Test Types |
| ValueSet.status[0] | draft |
| ValueSet.date[0] | 2024-09-10T10:17:52.3231281+00:00 |
| ValueSet.publisher[0] | NHS England |
| ValueSet.contact[0].name[0] | NHS England |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ValueSet.description[0] | A ValueSet to identify the category of genomic test types |
| ValueSet.copyright[0] | 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. |
| ValueSet.compose[0].include[0].system[0] | https://fhir.nhs.uk/CodeSystem/test-type-genomics |
| ValueSet.compose[0].include[0].version[0] | 0.2.0 |
XML View
JSON View
ValueSet Genomics Types of Re-Analysis Test
| Usage |
|---|
A ValueSet use to identify the types of re-analysis test request in genomics. |
HTML View
This value set includes codes from the following code systems:
- Import all codes from CodeSystem
TypesofReAnalysisTestGenomics
Table View
| ValueSet.id[0] | genomics-types-of-reanalysistest |
| ValueSet.url[0] | https://fhir.nhs.uk/ValueSet/genomics-types-of-reanalysistest |
| ValueSet.version[0] | 0.1.0 |
| ValueSet.name[0] | GenomicsTypesofReAnalysisTest |
| ValueSet.title[0] | Genomics Types of Re-Analysis Test |
| ValueSet.status[0] | draft |
| ValueSet.date[0] | 2024-07-09T00:00:00.000Z |
| ValueSet.publisher[0] | NHS England |
| ValueSet.contact[0].name[0] | NHS England |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ValueSet.description[0] | A ValueSet use to identify the types of re-analysis test request in genomics. |
| ValueSet.copyright[0] | 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. |
| ValueSet.compose[0].include[0].system[0] | https://fhir.nhs.uk/CodeSystem/types-of-reanalysistest-genomics |
| ValueSet.compose[0].include[0].version[0] | 0.1.0 |
XML View
JSON View
ValueSet Genomics FH SNOMED CT Codes
| Usage |
|---|
A ValueSet to identify the SNOMED-CT codes for use in Familial hypercholesterolaemia reporting as recommended by The National Cholesterol Working Group |
HTML View
This value set includes codes from the following code systems:
The following codes from system:
SNOMED_CTCode Display 163841000237109 Familial hypercholesterolaemia comprehensive genetic test result 163851000237107 Familial hypercholesterolaemia targeted genetic test result 204871000237101 Apolipoprotein B gene mutation positive 204901000237101 Apolipoprotein E gene mutation positive 204881000237104 Proprotein convertase subtilisin/kexin type 9 gene mutation positive 204891000237102 Low density lipoprotein receptor gene mutation positive 204931000237105 Genetic variant causing familial hypercholesterolaemia not detected 1669121000000107 Genetic variant of uncertain significance for familial hypercholesterolaemia detected 238078005 Familial hypercholesterolemia - homozygous 238079002 Familial hypercholesterolemia - heterozygous 403830007 Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation
Table View
| ValueSet.id[0] | genomics-FH-SNOMED-CT-codes |
| ValueSet.url[0] | https://fhir.nhs.uk/ValueSet/genomics-FH-SNOMED-CT-codes |
| ValueSet.version[0] | 0.1.0 |
| ValueSet.name[0] | GenomicsFHSNOMEDCTCodes |
| ValueSet.title[0] | Genomics FH SNOMED CT Codes |
| ValueSet.status[0] | draft |
| ValueSet.date[0] | 2026-01-20T14:15:00+00:00 |
| ValueSet.publisher[0] | NHS England |
| ValueSet.contact[0].name[0] | NHS England |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ValueSet.description[0] | A ValueSet to identify the SNOMED-CT codes for use in Familial hypercholesterolaemia reporting as recommended by The National Cholesterol Working Group |
| ValueSet.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. |
| ValueSet.compose[0].include[0].system[0] | http://snomed.info/sct |
| ValueSet.compose[0].include[0].concept[0].code[0] | 163841000237109 |
| ValueSet.compose[0].include[0].concept[0].display[0] | Familial hypercholesterolaemia comprehensive genetic test result |
| ValueSet.compose[0].include[0].concept[1].code[0] | 163851000237107 |
| ValueSet.compose[0].include[0].concept[1].display[0] | Familial hypercholesterolaemia targeted genetic test result |
| ValueSet.compose[0].include[0].concept[2].code[0] | 204871000237101 |
| ValueSet.compose[0].include[0].concept[2].display[0] | Apolipoprotein B gene mutation positive |
| ValueSet.compose[0].include[0].concept[3].code[0] | 204901000237101 |
| ValueSet.compose[0].include[0].concept[3].display[0] | Apolipoprotein E gene mutation positive |
| ValueSet.compose[0].include[0].concept[4].code[0] | 204881000237104 |
| ValueSet.compose[0].include[0].concept[4].display[0] | Proprotein convertase subtilisin/kexin type 9 gene mutation positive |
| ValueSet.compose[0].include[0].concept[5].code[0] | 204891000237102 |
| ValueSet.compose[0].include[0].concept[5].display[0] | Low density lipoprotein receptor gene mutation positive |
| ValueSet.compose[0].include[0].concept[6].code[0] | 204931000237105 |
| ValueSet.compose[0].include[0].concept[6].display[0] | Genetic variant causing familial hypercholesterolaemia not detected |
| ValueSet.compose[0].include[0].concept[7].code[0] | 1669121000000107 |
| ValueSet.compose[0].include[0].concept[7].display[0] | Genetic variant of uncertain significance for familial hypercholesterolaemia detected |
| ValueSet.compose[0].include[0].concept[8].code[0] | 238078005 |
| ValueSet.compose[0].include[0].concept[8].display[0] | Familial hypercholesterolemia - homozygous |
| ValueSet.compose[0].include[0].concept[9].code[0] | 238079002 |
| ValueSet.compose[0].include[0].concept[9].display[0] | Familial hypercholesterolemia - heterozygous |
| ValueSet.compose[0].include[0].concept[10].code[0] | 403830007 |
| ValueSet.compose[0].include[0].concept[10].display[0] | Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation |