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DGTS CodeSystems for Speciality. Test method and Package
DGTS CodeSystems for Speciality. Test method and Package
1 parent 20fe360 commit c9656dd

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‎CodeSystem/CodeSystem-Genomics-DGTS-clinical-specialty.json‎

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{
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"resourceType": "CodeSystem",
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"id": "DGTS-clinical-specialty",
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"url": "https://fhir.nhs.uk/CodeSystem/DGTS-clinical-specialty",
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"version": "0.1.0",
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"name": "DGTSClinicalSpecialty",
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"title": "DGTS Clinical Specialty",
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"status": "draft",
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"experimental": false,
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"date": "2026-06-15T00:00:00+00:00",
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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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"use": "work"
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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 the clinical specialty associated with a genomic test request, result, care pathway, or service within the Digital Genomic Test Service (DGTS).",
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"purpose": "Defines a standard set of clinical specialties relevant to genomic testing and interpretation within NHS genomic services.",
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"copyright": "Copyright © NHS England. Licensed under the Apache License, Version 2.0.",
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"caseSensitive": true,
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"content": "complete",
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"count": 21,
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"concept": [
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{
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"code": "oncology",
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"display": "Oncology",
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"definition": "Clinical specialty concerned with the diagnosis, treatment and management of cancer."
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},
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{
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"code": "cardiology",
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"display": "Cardiology",
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"definition": "Clinical specialty concerned with disorders of the heart and cardiovascular system."
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},
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{
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"code": "audiology",
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"display": "Audiology",
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"definition": "Clinical specialty concerned with hearing, balance and related disorders."
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},
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{
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"code": "endocrinology",
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"display": "Endocrinology",
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"definition": "Clinical specialty concerned with hormone-producing glands and endocrine disorders."
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},
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{
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"code": "ophthalmology",
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"display": "Ophthalmology",
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"definition": "Clinical specialty concerned with diseases and disorders of the eye and visual system."
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},
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{
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"code": "gastrohepatology",
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"display": "Gastrohepatology",
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"definition": "Clinical specialty concerned with disorders of the gastrointestinal tract, liver and associated organs."
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},
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{
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"code": "haematology",
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"display": "Haematology",
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"definition": "Clinical specialty concerned with blood disorders and diseases of the blood-forming organs."
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},
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{
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"code": "immunology",
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"display": "Immunology",
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"definition": "Clinical specialty concerned with disorders of the immune system."
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},
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{
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"code": "inherited-cancer",
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"display": "Inherited Cancer",
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"definition": "Clinical specialty focused on inherited cancer syndromes and familial cancer risk assessment."
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},
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{
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"code": "metabolic",
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"display": "Metabolic",
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"definition": "Clinical specialty concerned with inherited and acquired metabolic disorders."
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},
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{
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"code": "mitochondrial",
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"display": "Mitochondrial",
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"definition": "Clinical specialty concerned with disorders caused by mitochondrial dysfunction or mitochondrial genetic variants."
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},
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{
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"code": "musculoskeletal",
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"display": "Musculoskeletal",
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"definition": "Clinical specialty concerned with disorders affecting bones, muscles, connective tissues and joints."
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},
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{
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"code": "neurology",
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"display": "Neurology",
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"definition": "Clinical specialty concerned with disorders of the nervous system."
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},
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{
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"code": "renal",
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"display": "Renal",
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"definition": "Clinical specialty concerned with kidney diseases and disorders of renal function."
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},
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{
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"code": "respiratory",
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"display": "Respiratory",
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"definition": "Clinical specialty concerned with diseases of the lungs and respiratory system."
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},
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{
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"code": "dermatology",
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"display": "Dermatology",
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"definition": "Clinical specialty concerned with disorders of the skin, hair and nails."
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},
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{
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"code": "fetal-and-prenatal",
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"display": "Fetal and Prenatal",
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"definition": "Clinical specialty concerned with fetal medicine, prenatal diagnosis and pregnancy-related genetic conditions."
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},
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{
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"code": "paediatric-cancers",
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"display": "Paediatric Cancers",
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"definition": "Clinical specialty concerned with cancers occurring in children and young people."
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},
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{
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"code": "haemato-oncology",
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"display": "Haemato-Oncology",
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"definition": "Clinical specialty focused on the diagnosis and treatment of blood cancers."
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},
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{
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"code": "cellular-pathology",
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"display": "Cellular Pathology",
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"definition": "Clinical specialty concerned with the diagnosis of disease through examination of cells, tissues and organs."
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},
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{
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"code": "developmental-disorders",
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"display": "Developmental Disorders",
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"definition": "Clinical specialty concerned with genetic and congenital conditions affecting physical, cognitive or behavioural development."
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}
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]
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}

‎CodeSystem/CodeSystem-Genomics-DGTS-testmethod.json‎

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{
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"resourceType": "CodeSystem",
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"id": "DGTS-testmethod-genomics",
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"url": "https://fhir.nhs.uk/CodeSystem/DGTS-testmethod-genomics",
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"version": "0.1.0",
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"name": "DGTSTestMethodGenomics",
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"title": "DGTS Test Method Genomics",
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"status": "draft",
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"experimental": false,
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"date": "2026-06-15T00:00:00+00:00",
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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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"use": "work"
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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 the genomic test methodology used to generate genomic findings or results, as defined within the Digital Genomic Test Service (DGTS).",
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"purpose": "Defines a standard set of genomic testing methodologies for use within Digital Genomic Test Service (DGTS).",
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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": 6,
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"concept": [
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{
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"code": "chromosome-analysis",
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"display": "Chromosome analysis",
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"definition": "Chromosome analysis, or karyotyping, is a traditional method for detecting large-scale changes in chromosomes, such as missing or extra chromosomes, by visually examining them under a microscope."
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},
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{
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"code": "microarray",
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"display": "Microarray",
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"definition": "Microarray analysis is a method that detects copy number variants (CNVs), which are small deletions or duplications of DNA segments. It works by comparing a patient's DNA to a reference sample."
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},
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{
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"code": "relative-haplotype-dosage",
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"display": "Relative Haplotype Dosage (RHDO)",
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"definition": "Relative Haplotype Dosage (RHDO) is a method primarily used in prenatal testing to non-invasively detect genetic variants in the fetus by analysing DNA from the mother's blood."
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},
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{
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"code": "sequencing",
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"display": "Sequencing",
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"definition": "Sequencing is a general term for determining the order of the DNA bases in a specific region, a gene, or a whole genome."
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},
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{
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"code": "targeted-assays",
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"display": "Targeted assays",
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"definition": "Targeted assays, or gene panels, focus on sequencing a specific, pre-selected set of genes known to be associated with a particular condition."
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},
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{
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"code": "whole-genome-sequencing",
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"display": "Whole Genome Sequencing",
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"definition": "Whole genome sequencing is a laboratory process that determines the complete DNA sequence of a patient's genome, providing a comprehensive view of all their genetic material."
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}
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]
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}

‎CodeSystem/CodeSystem-Genomics-DGTS-testpackagemodality.json‎

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{
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"resourceType": "CodeSystem",
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"id": "DGTS-testpackagemodality-genomics",
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"url": "https://fhir.nhs.uk/CodeSystem/DGTS-testpackagemodality-genomics",
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"version": "0.1.0",
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"name": "DGTSTestPackageModalityGenomics",
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"title": "DGTS Test Package Modality Genomics",
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"status": "draft",
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"experimental": false,
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"date": "2026-06-15T00:00:00+00:00",
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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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"use": "work"
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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 the clinical modality or testing domain associated with a genomic test package.",
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"purpose": "Defines the categories of genomic testing services available through the Digital Genomic Test Service (DGTS).",
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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": 7,
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"concept": [
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{
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"code": "solid-cancer",
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"display": "Solid Cancer",
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"definition": "Genomic testing of cancers that form solid tumours in various organs or tissues to identify genetic mutations, guide targeted treatments, predict prognosis or assess risk for inherited cancer syndromes."
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},
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{
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"code": "haematological-malignancies",
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"display": "Haematological Malignancies",
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"definition": "Genomic testing of blood cancers to detect specific genetic abnormalities, helping to refine diagnosis, prognosis, treatment strategies and monitoring."
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},
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{
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"code": "rare-and-inherited-disease",
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"display": "Rare and Inherited Disease",
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"definition": "Genetic testing to identify pathogenic variants causing rare genetic disorders, often used in diagnosing conditions inherited from parents or assessing genetic risks in families."
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},
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{
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"code": "inherited-cancer",
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"display": "Inherited Cancer",
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"definition": "Genetic testing to detect mutations that predispose individuals to cancers passed through families, used to assess cancer risk and inform preventive measures."
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},
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{
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"code": "pharmacogenomics",
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"display": "Pharmacogenomics",
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"definition": "Genetic testing to assess how an individual's genetic makeup affects their response to medications, guiding drug selection and dosage to improve efficacy and reduce adverse reactions."
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},
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{
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"code": "polygenic-risk-scores",
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"display": "Polygenic Risk Scores",
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"definition": "Genetic testing to aid calculation based on multiple genetic variants to estimate an individual's risk of developing complex diseases, often used alongside lifestyle and environmental factors for risk prediction."
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},
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{
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"code": "sample-storage",
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"display": "Sample storage",
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"definition": "Sample to be stored by the Genomic Laboratory Hub (GLH) for future genetic testing."
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}
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]
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}

‎ValueSet/ValueSet-Genomics-DGTS-testmethod.json‎

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{
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"resourceType": "ValueSet",
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"id": "DGTS-testMethod-genomics",
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"url": "https://fhir.nhs.uk/ValueSet/DGTS-testMethod-genomics",
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"version": "0.1.0",
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"name": "DGTSTestMethodGenomics",
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"title": "DGTS Test Method Genomics",
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"status": "draft",
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"date": "2026-06-15T00:00:00.000Z",
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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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"use": "work",
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"rank": 1
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}
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]
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}
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],
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"description": "A ValueSet used to identify the genomic test methodology used to generate genomic findings or results, as defined within the Digital Genomic Test Service (DGTS).",
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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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"compose": {
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"include": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-testmethod-genomics",
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"version": "0.1.0"
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}
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]
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},
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"expansion": {
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"timestamp": "2026-06-15T00:00:00Z",
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"total": 6,
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"offset": 0,
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"contains": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-testmethod-genomics",
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"code": "chromosome-analysis",
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"display": "Chromosome analysis"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-testmethod-genomics",
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"code": "microarray",
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"display": "Microarray"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-testmethod-genomics",
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"code": "relative-haplotype-dosage",
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"display": "Relative Haplotype Dosage (RHDO)"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-testmethod-genomics",
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"code": "sequencing",
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"display": "Sequencing"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-testmethod-genomics",
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"code": "targeted-assays",
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"display": "Targeted assays"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-testmethod-genomics",
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"code": "whole-genome-sequencing",
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"display": "Whole Genome Sequencing"
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}
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]
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}
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}

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