IP Review

This publication includes IP covered under the following statements.

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 .
ISO maintains the copyright on the country codes, and controls its use carefully. For further details see the ISO 3166 web page: https://www.iso.org/iso-3166-country-codes.html
- ISO 3166-1 Codes for the representation of names of countries and their subdivisions — Part 1: Country code : AdmissionMethod , AdmissionSource ...
It is a condition of HGNC funding from NIH and the Welcome Trust that the nomenclature and information provided is freely available to all. Anyone may use the HGNC data, but we request that they reference the "HUGO Gene Nomenclature Committee at the European Bioinformatics Institute" and the website where possible.
- HUGO Gene Nomenclature Committee Genes : Bundle/187a20ef-9b81-4c83-84f7-140c210f8706 , Bundle/41a20f74-643f-4073-968a-ee003160734f ...
- HUGO Gene Nomenclature Committee Gene Group : MolecularBiomarker
The HPO vocabularies, annotation files, tools and documentation are freely available.
The HPO is copyrighted to protect the integrity of the vocabularies, which means that changes to the HPO vocabularies need to be done by HPO developers. However, anyone can download the HPO and use the ontologies or other HPO files under three conditions:
That the Human Phenotype Ontology Consortium is acknowledged and cited properly.
That any HPO Consortium file(s) displayed publicly include the date(s) and/or version number(s) of the relevant HPO file(s).
That neither the content of the HPO file(s) nor the logical relationships embedded within the HPO file(s) be altered in any way. (Content additions and modifications have to be suggested using our issue tracker .)
Users of the HPO should add the following statement to their online presence. This service/product uses the Human Phenotype Ontology (version information). Find out more at http://www.human-phenotype-ontology.org . We request that the HPO logo be included as well.

®© HL7 | Creative Commons 0 ( src )

NHS North West Genomics ®© HL7 | Creative Commons 0 ( src )

Defines the content expected to be rendered in all representations of the artifact. The (c) symbol should NOT be included in this string. It is expected to be added by software when rendering the notation. Full details about licensing, restrictions, warrantees, etc. goes in the more general 'copyright' element. ( src )

NHS North West Genomics - Local Development build (v2.2.5) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions ( src )

Time (TM) ( src )

External References

Type	Reference	Content
web	en.wikipedia.org	HL7 v3 Clinical Document Architecture
web	specifications.openehr.org	openEHR
web	github.com	Examples in this IG include the NHS England National Record Locator (NRL), acting as Document Registry, and the NHS England Genomics Core Broker / Unified Genomic Record (UGR), acting as Document Repository - see ctDNA NHS England Unified Genomic Record (UGR) - Phase 1 .
web	github.com	In this IG this role is always played by the Regional Integration Engine (RIE) - the same system that plays Intermediary and Resource Publisher elsewhere - see Regional Shared Care Records and ctDNA NHS England Unified Genomic Record (UGR) for worked examples.
web	github.com	In this IG this role is always played by the Regional Integration Engine (RIE) - the same system that plays Intermediary and Resource Publisher elsewhere - see Regional Shared Care Records and ctDNA NHS England Unified Genomic Record (UGR) for worked examples.
web	github.com	In this IG this is the FHIR Repository populated by the Regional Integration Engine's wire-tap (see Regional Integration Engine (RIE) ) - other examples include the Genomic Data Platform, Shared Care Records and NHS England Patient Data Manager.
web	profiles.ihe.net	Recommend IHE-IUA
web	profiles.ihe.net	EURIDICE Patient Matching - IHE Patient Demographics Query for Mobile (PDQm) Mobile Patient Demographics Query [ITI-78]
web	profiles.ihe.net	EURIDICE Document Exchange - IHE Mobile access to Health Documents (MHD) Retrieve Document [ITI-68]
web	profiles.ihe.net	EURIDICE Document Exchange - IHE Mobile access to Health Documents (MHD) Find Document References [ITI-67]
web	urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f	application/pdf @ urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f
web	www.nwgenomics.nhs.uk	contact : https://www.nwgenomics.nhs.uk/contact-us
web	hl7.eu	Regional Hl7 v2 MDM_T02 The format of the report is PDF, in future for England/EU document sharing the format may change to HL7 EU Laboratory Report
web	snomed.info	77386006
web	snomed.info	255407002
web	snomed.info	721981007
web	snomed.info	721963009
web	snomed.info	734163000
web	snomed.info	371525003
web	snomed.info	422735006
web	snomed.info	371537001
web	snomed.info	419891008
web	snomed.info	4241000179101
web	snomed.info	721965002
web	snomed.info	163221000000102
web	snomed.info	927061000000101
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web	snomed.info	820161000000108
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web	snomed.info	824231000000100
web	snomed.info	820211000000103
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web	snomed.info	820221000000109
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web	snomed.info	725869001
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web	snomed.info	826511000000103
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web	snomed.info	826521000000109
web	snomed.info	308575004
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web	snomed.info	308619006
web	snomed.info	270372007
web	snomed.info	270370004
web	snomed.info	307881004
web	snomed.info	270358003
web	snomed.info	308621001
web	snomed.info	820301000000106
web	snomed.info	823951000000100
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web	snomed.info	826651000000100
web	snomed.info	408403008
web	snomed.info	823881000000104
web	snomed.info	827701000000106
web	snomed.info	772790007
web	snomed.info	822761000000108
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web	snomed.info	1054071000000109
web	snomed.info	827711000000108
web	snomed.info	822771000000101
web	snomed.info	822781000000104
web	snomed.info	822801000000103
web	snomed.info	822791000000102
web	snomed.info	827721000000102
web	snomed.info	822811000000101
web	snomed.info	824861000000106
web	snomed.info	371527006
web	snomed.info	822821000000107
web	snomed.info	822831000000109
web	snomed.info	823891000000102
web	snomed.info	962401000000101
web	snomed.info	4271000179106
web	snomed.info	983701000000101
web	snomed.info	725870000
web	snomed.info	725956001
web	snomed.info	770573007
web	snomed.info	770574001
web	snomed.info	770572002
web	snomed.info	770575000
web	snomed.info	782660000
web	snomed.info	782659005
web	snomed.info	1129261000000102
web	snomed.info	1129251000000100
web	snomed.info	1129241000000103
web	snomed.info	1129231000000107
web	snomed.info	4201000179104
web	snomed.info	1219161000000101
web	snomed.info	149691000000109
web	snomed.info	229059009
web	snomed.info	823901000000101
web	snomed.info	823931000000107
web	snomed.info	823941000000103
web	snomed.info	1186936003
web	snomed.info	119297000
web	snomed.info	119373006
web	snomed.info	309201001
web	snomed.info	258580003
web	snomed.info	122552005
web	snomed.info	122556008
web	snomed.info	737357006
web	snomed.info	122555007
web	snomed.info	440500007
web	snomed.info	119359002
web	snomed.info	733104004
web	snomed.info	258450006
web	snomed.info	258565009
web	snomed.info	702451000
web	snomed.info	309147000
web	snomed.info	258566005
web	snomed.info	441652008
web	snomed.info	1003517007
web	snomed.info	122571007
web	snomed.info	418564007
web	snomed.info	119342007
web	snomed.info	441479001
web	snomed.info	122575003
web	snomed.info	441673008
web	snomed.info	SNOMED CT: 119297000 (Blood specimen)
web	snomed.info	SNOMED CT: 363349007 (Malignant tumour of stomach)
web	snomed.info	SNOMED CT: 258580003 (Whole blood specimen)
web	snomed.info	SNOMED CT: 64033007 (Kidney structure)
web	www.datadictionary.nhs.uk	General Medical Council Consultant Code. For more details see: NHS Data Model Dictionary
web	www.datadictionary.nhs.uk	General Practitioner (GMP) number. For more details see: NHS Data Model Dictionary
web	www.datadictionary.nhs.uk	NHS Number allocated to the patient in England and Wales. For more details see: NHS Data Model Dictionary
web	www.nw-gmsa.nhs.uk
web	www.nwgenomics.nhs.uk	IG © 2024+ NHS North West Genomics . Package fhir.nwgenomics.nhs.uk#2.2.5 based on FHIR 4.0.1 . Generated 2026-11-05 Links: Table of Contents \| QA Report \| New Issue \| Issues
web	github.com	Links: Table of Contents \| QA Report \| New Issue \| Issues
web	github.com	Links: Table of Contents \| QA Report \| New Issue \| Issues
web	digital.nhs.uk	Manages the Order. This is the function of Genomic Order Management Service and/or GLH LIMS
web	www.en13606.org	From ISO-13606 The set of information committed to one EHR as a result of a clinical encounter or a record documentation session. Examples of COMPOSITION are Progress note, Laboratory test result form, Radiology report, Referral letter, Clinic visit, Clinic letter, Discharge summary, Functional health assessment, Diabetes review.
web	urn:uuid:4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4	application/pdf @ urn:uuid:4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4
web	euridice.org	Is based on EURIDICE Health Data API , which we are using as FHIR R4 version of Care Connect API
web	nhsconnect.github.io	Is based on EURIDICE Health Data API , which we are using as FHIR R4 version of Care Connect API
web	editor.swagger.io	The `OpenAPISwagger Definition file` below, can be viewed using Swagger Editor
web	github.com	Local OBX-3 sub-identifier codes used by the Clatterbridge chimerism testing payload - see Histocompatibility and Immunogenetics - Chimerism Testing Result Panel (Future?) .
web	www.england.nhs.uk	Source: National genomic test directories - Rare & Inherited Disease v9 and Cancer (non-CNS) v16 checked/refreshed on 2026-09-08.
web	www.england.nhs.uk	Test Outcome Code from NHS England Genomics Test Reporting Specification
web	github.com	Local order-detail codes from Histotrac , the Histocompatibility and Immunogenetics LIMS - see Histocompatibility and Immunogenetics , HLA Tests - Transplant Ask At Order Entry and Chimerism Test Additional Ask At Order Entry Questions .
web	github.com	Sourced as HL7 v2 CE (coded element)-style `code^text^codingSystem` strings from the `HISTOTRACEAP` coding system - see each concept's worked example ( HLA Tests - Transplant , Chimerism Testing ). These are distinct from the local `NWGMSA` answer options (e.g. `HLAAntibodyScreening` , `ChimerismPeripheralBlood` ) used on the Ask At Order Entry Questionnaires' own order-entry choice items - those model the order-entry UI selection, these are what Histotrac itself calls the resulting order.
web	github.com	Sourced as HL7 v2 CE (coded element)-style `code^text^codingSystem` strings from the `HISTOTRACEAP` coding system - see each concept's worked example ( HLA Tests - Transplant , Chimerism Testing ). These are distinct from the local `NWGMSA` answer options (e.g. `HLAAntibodyScreening` , `ChimerismPeripheralBlood` ) used on the Ask At Order Entry Questionnaires' own order-entry choice items - those model the order-entry UI selection, these are what Histotrac itself calls the resulting order.
web	github.com	iGene's five variant-type categories, each with its own repeating set of custom fields in iGene's "Variant Level Data" spec ( `SEQV1` - `SEQV10` , `ICNV1` - `ICNV3` , `MCNV1` - `MCNV3` , `SV1` - `SV3` , `LOH1` - `LOH2` ) - see OMICS DSS Result Integration for the decision this codifies: making "which iGene slot type is this" an explicit, coded `Variant.component:variant-category` value instead of an inferred classification.
web	github.com	Built against the Genomics England terminology server (https://re-docs.genomicsengland.co.uk/terminology_server/, `https://ontoserver.aws.gel.ac/fhir` ), HPO release `20191108` . That server only publishes a SNOMED CT to HPO `ConceptMap` ( `sct-to-hpo` ) by name, but does support querying it in the HPO-to-SNOMED direction directly via `ConceptMap/sct-to-hpo/$translate?...&reverse=true` - see nw-gmsa/Testing notebook 13 , which uses the same server and surfaced this parameter. An initial pass of this ConceptMap missed that: it instead found a candidate SNOMED CT concept for each HPO term ( `ValueSet/$expand` free-text search under the Clinical finding ( `404684003` ) subtree) and forward-verified it through `ConceptMap/sct-to-hpo/$translate` in the SNOMED-to-HPO direction - which undercounted, since a genuinely-mapped HPO term can have a mapped SNOMED code that isn't the one a text search happens to surface (e.g. Cataract is mapped, to SNOMED `128306009` , not the `193570009` a plain text search returns first). This version instead queries `reverse=true` directly for every HPO code, with the `equivalence` value taken directly from that server response ( `equivalent` in every case found).
web	github.com	Built by nw-gmsa/Testing notebook 14 , checked against v1.1/v2 on 2026-09-08.
web	github.com	Built by nw-gmsa/Testing notebook 14 , checked against v9/v16 on 2026-09-08.
web	www.enterpriseintegrationpatterns.com	Built on InterSystems Health Connect. This is the messaging layer: it supports workflows between NHS Organisations (Trust EPR to NW Genomics and back), and internal process-to-process workflows between LIMS (e.g. iGene to StarLIMS Work Orders). Its design style follows Enterprise Integration Patterns
web	github.com	message routing, transformation and a canonical data model, described in detail in Overview - Regional Integration Engine (RIE) and Architecture - Enterprise Integration Patterns (EIP) . The workflows it supports are documented as business processes in Analysis and Design (Volume 1) - e.g. Laboratory Testing Workflow (LTW) , Inter-Laboratory Workflow (ILW) - and as the technical interactions themselves in Interfaces (Volume 2) .
web	github.com	see Enterprise Integration - but the two aren't doing the same job. The RIE carries more integration-engine features than a typical Trust-local TIE: routing (to the correct destination Trust or LIMS), enrichment (PDS/ODT lookups adding patient/organisation detail a source message didn't include), terminology mapping (using a Terminology Service to translate a code from one destination's coding system to another, rather than each destination having to understand every source system's own local codes), and orchestration of the multi-step validate/enrich/convert/route sequence described above. In exchange, it does less HL7 v2 flavour-to-flavour transformation than a TIE: rather than every source/destination pair negotiating its own bespoke mapping, the RIE only ever deals in a single canonical NW Standard format - the flavour-specific conversion each Trust's or lab's own local system actually needs happens at the edges, in that Trust's or lab's own TIE, before the message ever reaches the RIE. See Order Process for exactly where that boundary sits.
web	kafka.apache.org	Message-Oriented Middleware (MOM) - like Apache Kafka , RabbitMQ or AWS SQS, the RIE decouples producers and consumers and moves data asynchronously, so a LIMS sending a report doesn't need to know or wait on which Trusts will receive it. Unlike a general-purpose broker, though, the RIE isn't a neutral pipe with topics/queues any consumer can subscribe to - the transformation and routing logic (which destination, in what HL7 flavour) is built into the RIE itself as configured integration production rules, not left to consumer-side code.
web	www.rabbitmq.com	Message-Oriented Middleware (MOM) - like Apache Kafka , RabbitMQ or AWS SQS, the RIE decouples producers and consumers and moves data asynchronously, so a LIMS sending a report doesn't need to know or wait on which Trusts will receive it. Unlike a general-purpose broker, though, the RIE isn't a neutral pipe with topics/queues any consumer can subscribe to - the transformation and routing logic (which destination, in what HL7 flavour) is built into the RIE itself as configured integration production rules, not left to consumer-side code.
web	airflow.apache.org	Workflow Orchestration Tools - like Apache Airflow , Prefect or Dagster , the RIE coordinates a sequence of dependent steps for each message (validate, enrich via a PDS/ODT lookup, convert, route) and handles retries/error routing when a step fails. The difference is scope and cadence: these tools schedule and orchestrate batch ETL/ELT DAGs over datasets on a timer; the RIE orchestrates a workflow per individual message, in near real time, as each order or report arrives.
web	www.prefect.io	Workflow Orchestration Tools - like Apache Airflow , Prefect or Dagster , the RIE coordinates a sequence of dependent steps for each message (validate, enrich via a PDS/ODT lookup, convert, route) and handles retries/error routing when a step fails. The difference is scope and cadence: these tools schedule and orchestrate batch ETL/ELT DAGs over datasets on a timer; the RIE orchestrates a workflow per individual message, in near real time, as each order or report arrives.
web	dagster.io	Workflow Orchestration Tools - like Apache Airflow , Prefect or Dagster , the RIE coordinates a sequence of dependent steps for each message (validate, enrich via a PDS/ODT lookup, convert, route) and handles retries/error routing when a step fails. The difference is scope and cadence: these tools schedule and orchestrate batch ETL/ELT DAGs over datasets on a timer; the RIE orchestrates a workflow per individual message, in near real time, as each order or report arrives.
web	github.com	Built on the InterSystems FHIR Repository. This is an operational data platform , not a messaging engine: it is populated by wire-tapping the messages and data flows already passing through the RIE, rather than being sent to directly. Its design style is different from the RIE's messaging patterns - it follows aggregates from Domain Driven Design , the operational-data-platform pattern (query the current state of an entity, not just the event stream that produced it), and domain archetypes from Data Mesh - see Architecture for how the domain split works. Its interactions are FHIR RESTful ( `GET` / `search` / `batch` / `transaction` , per notebook 07 below) - it also supports SQL, via InterSystems' own SQL projection over the stored FHIR resources, for analysts and reporting tools that don't speak FHIR natively.
web	martinfowler.com	Built on the InterSystems FHIR Repository. This is an operational data platform , not a messaging engine: it is populated by wire-tapping the messages and data flows already passing through the RIE, rather than being sent to directly. Its design style is different from the RIE's messaging patterns - it follows aggregates from Domain Driven Design , the operational-data-platform pattern (query the current state of an entity, not just the event stream that produced it), and domain archetypes from Data Mesh - see Architecture for how the domain split works. Its interactions are FHIR RESTful ( `GET` / `search` / `batch` / `transaction` , per notebook 07 below) - it also supports SQL, via InterSystems' own SQL projection over the stored FHIR resources, for analysts and reporting tools that don't speak FHIR natively.
web	en.wikipedia.org	Built on the InterSystems FHIR Repository. This is an operational data platform , not a messaging engine: it is populated by wire-tapping the messages and data flows already passing through the RIE, rather than being sent to directly. Its design style is different from the RIE's messaging patterns - it follows aggregates from Domain Driven Design , the operational-data-platform pattern (query the current state of an entity, not just the event stream that produced it), and domain archetypes from Data Mesh - see Architecture for how the domain split works. Its interactions are FHIR RESTful ( `GET` / `search` / `batch` / `transaction` , per notebook 07 below) - it also supports SQL, via InterSystems' own SQL projection over the stored FHIR resources, for analysts and reporting tools that don't speak FHIR natively.
web	github.com	Built on the InterSystems FHIR Repository. This is an operational data platform , not a messaging engine: it is populated by wire-tapping the messages and data flows already passing through the RIE, rather than being sent to directly. Its design style is different from the RIE's messaging patterns - it follows aggregates from Domain Driven Design , the operational-data-platform pattern (query the current state of an entity, not just the event stream that produced it), and domain archetypes from Data Mesh - see Architecture for how the domain split works. Its interactions are FHIR RESTful ( `GET` / `search` / `batch` / `transaction` , per notebook 07 below) - it also supports SQL, via InterSystems' own SQL projection over the stored FHIR resources, for analysts and reporting tools that don't speak FHIR natively.
web	github.com	The same build-up-then-read-back pattern applies across a whole multi-system journey, not just within the RIE. Reportable Variants - The end-to-end clinical journey is a concrete example: each step's output is written into the FHIR Repository as part of the same Order/Report aggregate, and a later step reads that aggregate back as its input , rather than every system having to talk to every other system directly. The dotted line is proposed, not yet implemented - see Future Process .
web	github.com	The same build-up-then-read-back pattern applies across a whole multi-system journey, not just within the RIE. Reportable Variants - The end-to-end clinical journey is a concrete example: each step's output is written into the FHIR Repository as part of the same Order/Report aggregate, and a later step reads that aggregate back as its input , rather than every system having to talk to every other system directly. The dotted line is proposed, not yet implemented - see Future Process .
web	hpo.jax.org	in particular, converting a SNOMED CT clinical finding into a Human Phenotype Ontology (HPO) term via `ConceptMap/sct-to-hpo/$translate` , used to derive a `GenomicClinicalIndication` code from a patient's EPR problem list. Notebook 13 queries it live and is worth reading in full, since it also documents where the mapping doesn't work today: discrete findings (e.g. Ataxia, Seizure) translate reliably, but coded diagnoses (e.g. Marfan syndrome, Cystic fibrosis, Lynch syndrome) currently produce no mapping at all. The same server and `sct-to-hpo` map were used to hand-build this IG's own static GMSWGSGuideHPOTermsToSCT `ConceptMap` - see notebook 13 's own closing note on IHE Sharing Valuesets, Codes, and Maps (SVCM) for where this pattern is heading.
web	github.com	in particular, converting a SNOMED CT clinical finding into a Human Phenotype Ontology (HPO) term via `ConceptMap/sct-to-hpo/$translate` , used to derive a `GenomicClinicalIndication` code from a patient's EPR problem list. Notebook 13 queries it live and is worth reading in full, since it also documents where the mapping doesn't work today: discrete findings (e.g. Ataxia, Seizure) translate reliably, but coded diagnoses (e.g. Marfan syndrome, Cystic fibrosis, Lynch syndrome) currently produce no mapping at all. The same server and `sct-to-hpo` map were used to hand-build this IG's own static GMSWGSGuideHPOTermsToSCT `ConceptMap` - see notebook 13 's own closing note on IHE Sharing Valuesets, Codes, and Maps (SVCM) for where this pattern is heading.
web	profiles.ihe.net	in particular, converting a SNOMED CT clinical finding into a Human Phenotype Ontology (HPO) term via `ConceptMap/sct-to-hpo/$translate` , used to derive a `GenomicClinicalIndication` code from a patient's EPR problem list. Notebook 13 queries it live and is worth reading in full, since it also documents where the mapping doesn't work today: discrete findings (e.g. Ataxia, Seizure) translate reliably, but coded diagnoses (e.g. Marfan syndrome, Cystic fibrosis, Lynch syndrome) currently produce no mapping at all. The same server and `sct-to-hpo` map were used to hand-build this IG's own static GMSWGSGuideHPOTermsToSCT `ConceptMap` - see notebook 13 's own closing note on IHE Sharing Valuesets, Codes, and Maps (SVCM) for where this pattern is heading.
web	github.com	Worked-example Jupyter notebooks from nw-gmsa/Testing - each builds a piece of this IG's FHIR/HL7 v2 conversion by hand, in Python, against real example data. They form a series ( `01` onward assumes the reader has read the earlier ones), and most relate directly to one or more of this IG's Use Cases .
web	github.com	01 - FHIR Search Basics
web	github.com	02 - Work Orders: A Worked Example
web	github.com	Regional Integration Engine (RIE) , StarLIMS / iGene Integration , OMICS DSS Result Integration
web	github.com	Regional Integration Engine (RIE) , StarLIMS / iGene Integration , OMICS DSS Result Integration
web	github.com	Regional Integration Engine (RIE) , StarLIMS / iGene Integration , OMICS DSS Result Integration
web	github.com	03 - Orders: Building a FHIR Order Message from a CSV
web	github.com	NE&Y Management Information (ctDNA)
web	github.com	04 - Reports: HL7 v2 `ORU^R01` into FHIR
web	github.com	Regional Integration Engine (RIE) , Regional Shared Care Records
web	github.com	Regional Integration Engine (RIE) , Regional Shared Care Records
web	github.com	05 - Test Results: GA4GH VCF to FHIR Genomics Reporting
web	github.com	OMICS DSS Result Integration
web	github.com	06 - EU Laboratory Report: FHIR Messages to a FHIR Document
web	github.com	ctDNA NHS England Unified Genomic Record (UGR) , NE&Y Management Information (ctDNA)
web	github.com	ctDNA NHS England Unified Genomic Record (UGR) , NE&Y Management Information (ctDNA)
web	github.com	07 - FHIR Repository: RESTful Events and Aggregates
web	github.com	Regional Integration Engine (RIE)
web	github.com	08 - Subcontracted Laboratory Order from an External GLH
web	github.com	Distributed WGS (dWGS)
web	github.com	09 - LIMS Integration with the Genomic Order Management Service
web	github.com	Regional Integration Engine (RIE) , NHS England Genomic Order Management Service (GOMS)
web	github.com	Regional Integration Engine (RIE) , NHS England Genomic Order Management Service (GOMS)
web	github.com	10 - Histocompatibility and Immunogenetics: HL7 v2 to and from the NW Standard
web	github.com	Histocompatibility and Immunogenetics , iGene Orders and Reports (Alder Hey, MFT, Liverpool)
web	github.com	Histocompatibility and Immunogenetics , iGene Orders and Reports (Alder Hey, MFT, Liverpool)
web	github.com	11 - Order Entry Forms: Questionnaire to a FHIR O21
web	github.com	12 - Haemato-Oncology Cytogenetics: From Free-Text HL7 v2 to Structured Observations
web	github.com	Extracts the karyotype/FISH findings buried in `Shire-1.txt` / `Shire-2.txt` 's free-text `OBX\\|FT\\|CYTO` lines, then builds them as the discrete, LOINC-coded `Observation` / `DiagnosticReport` shape that page's own Future genomic data model proposes - the source of that page's two structured-example `Bundle` s.
web	github.com	Haemato-Oncology Diagnostic Pathway
web	github.com	13 - SNOMED to HPO: Genomic Clinical Indication
web	github.com	14 - Refreshing the National Genomic Test Directory CodeSystems
web	github.com	15 - Closing the Loop: Genomic Results Back Onto the EPR Problem List
web	profiles.ihe.net	Notebook 13's terminology-server pattern (querying a remote FHIR server's `$lookup` / `$translate` operations live, rather than hand-maintaining a static map) is the same shape IHE Sharing Valuesets, Codes, and Maps (SVCM) formalises as a profile - this IG is likely to adopt an SVCM-conformant terminology service for SNOMED CT/HPO/Genomic Test Directory conversions in future, rather than continuing to hand-build `ConceptMap` s like GMSWGSGuideHPOTermsToSCT notebook-by-notebook.
web	www.postman.com	For a first look that doesn't need Python/Jupyter, the same requests notebooks `01` , `02` and `13` build by hand are also available as a ready-to-run Postman collection and environment, in nw-gmsa/Testing/postman :
web	github.com	For a first look that doesn't need Python/Jupyter, the same requests notebooks `01` , `02` and `13` build by hand are also available as a ready-to-run Postman collection and environment, in nw-gmsa/Testing/postman :
web	github.com	Download both files from nw-gmsa/Testing/postman (or copy their raw GitHub URLs).
web	re-docs.genomicsengland.co.uk	The notebooks above are aimed at integration/interoperability developers - FHIR and HL7 v2 message shapes, not analysis of genomic data itself. For that audience, Genomics England publishes its own separate set of tutorials aimed at researchers and data analysts working inside the Genomics England Research Environment: Genomics England Research Environment - How-to guides . These cover cohort building (phenotype-first and genotype-first, via Participant Explorer/CloudOS), querying aggregate VCF datasets (AggV2/AggV3/somAgg), downstream analysis (association testing, variant screening, survival analysis), and desktop tooling (LabKey, Airlock, IVA) using Python, R, Jupyter notebooks and HPC workflows - a different layer of the same overall genomics ecosystem this IG's own notebooks integrate with at the message/API level.
web	github.com	Referral for genetic counselling / cascade (predictive) testing , following a variant already found or a condition already suspected - see Clinical Scenarios below and Cancer Background Information for Use Cases - Genetic Counselling Referral Across Regions .
web	www.mangen.co.uk	A GP or hospital referral direct into a regional clinical genetics service , such as Manchester Centre for Genomic Medicine or the Liverpool Centre for Genomic Medicine (LCGM) - the entry point into the same referral-out/report-back pattern, most commonly made today via NHS e-Referral Service (eRS) when the referrer is a GP.
web	www.uhliverpool.nhs.uk	A GP or hospital referral direct into a regional clinical genetics service , such as Manchester Centre for Genomic Medicine or the Liverpool Centre for Genomic Medicine (LCGM) - the entry point into the same referral-out/report-back pattern, most commonly made today via NHS e-Referral Service (eRS) when the referrer is a GP.
web	www.ihe.net	IHE PCC Technical Framework Supplement - 360X: Closed Loop Referrals - the closed-loop referral profile this pattern is analogous to (not itself adopted here)
web	digital.nhs.uk	NHS e-Referral Service (eRS) / FHIR API - the service GPs use today to refer into secondary care, including regional clinical genetics services; the other basis for the Referral Data Model below
web	digital.nhs.uk	NHS e-Referral Service (eRS) / FHIR API - the service GPs use today to refer into secondary care, including regional clinical genetics services; the other basis for the Referral Data Model below
web	digital.nhs.uk	NHS England Booking and Referral Standard (BaRS) - FHIR API - a possible alternative to eRS; checked for referral-specific data modelling in the Mapping to NHS Booking and Referral Standard (BaRS) section below
web	github.com	HL7 v2 `ORU_R01` - a possible model for the report/clinic letter back, already used elsewhere in this IG for hospital reports (see Cancer Background Information for Use Cases )
web	www.mangen.co.uk	Manchester Centre for Genomic Medicine - Clinical Services
web	www.uhliverpool.nhs.uk	Liverpool Centre for Genomic Medicine (LCGM)
web	github.com	Cancer Background Information for Use Cases - Genetic Counselling Referral Across Regions - the worked narrative example this page generalises
web	www.macmillan.org.uk	Macmillan - What is genetic counselling? - background on cascade/predictive testing
web	github.com	Consultand - a relative of the proband being counselled and/or tested as a result (e.g. for cascade/predictive testing), as distinct from the proband themselves. The same distinction is used in Distributed WGS (dWGS) 's Family Structure/Participant Type pattern.
web	github.com	This is the referral-level counterpart to the Distributed WGS (dWGS) Family Structure/Participant Type pattern: dWGS covers ordering a test for multiple family members at once, whereas this page covers the referral that decides which relatives should be offered counselling/testing in the first place, and reports back the outcome.
web	digital.nhs.uk	Current state: where the referrer is a GP practice, the referral into a regional clinical genetics service (e.g. Manchester Centre for Genomic Medicine, LCGM) is most commonly made today via NHS e-Referral Service (eRS) - the national service GPs already use to refer into secondary care generally, not a genomics-specific mechanism. eRS is being generalised into this page's scope (rather than excluded, as in an earlier version of this page) because it is, in practice, the primary route by which patients first reach these services. eRS assigns each referral a Unique Booking Reference Number (UBRN) , which the receiving service uses to identify and triage it.
web	digital.nhs.uk	eRS's FHIR API currently represents the referral as a `ReferralRequest` resource (STU3), profiled as `eRS-ReferralRequest-1` ; a newer `ServiceRequest` -based (R4) endpoint is in development, on which the UBRN appears explicitly as `ServiceRequest.identifier` (system `https://fhir.nhs.uk/Id/UBRN` ), with `intent = order` and `category` coded `referral` (system `https://fhir.nhs.uk/CodeSystem/message-category-servicerequest` ) - see the FHIR Resource Model below.
web	github.com	Current state: as described in Cancer Background Information for Use Cases - Genetic Counselling Referral Across Regions , a referral between genomics/genetics services (e.g. cascade testing for a relative under a different regional service) travels as a secure NHS.net email or a dictated letter - the same generic mechanism as any inter-Trust referral, carrying no structured/coded data. When the relative lives under a different regional genetics service, this takes the form of a family letter summarising the variant, inheritance pattern and at-risk relatives.
web	github.com	Current state: the outcome of assessment, counselling and any family testing arranged is reported back as dictated hospital correspondence - the same mechanism used for any other outpatient clinic letter (see Cancer Background Information for Use Cases for the equivalent pattern on the initial GP referral).
web	digital.nhs.uk	Booking the counselling/genetics appointment itself is deliberately out of scope for this page. eRS has its own booking functionality, IHE's Closed Loop Referral profile (360X) includes its own dedicated scheduling transactions, and NHS England's Booking and Referral Standard (BaRS) is itself primarily a booking-and-referral service for non-eRS pathways - any of these could be the natural place scheduling would live if this pattern were ever built out, but none is analysed further here.
web	digital.nhs.uk	The diagram below sketches how eRS's own FHIR API relates the resources involved in a referral, taken from the worked examples published in eRS's FHIR API catalogue . It uses the current (STU3) `ReferralRequest` resource name; the same shape applies to the newer `ServiceRequest` -based (R4) endpoint once it is generally available.
web	digital.nhs.uk	NHS Booking and Referral Standard (BaRS) is NHS England's other FHIR-based referral mechanism, intended as a general-purpose alternative to eRS for non-GP referral pathways. Checking its published `CapabilityStatement` and `MessageDefinition` resources directly: BaRS defines no referral-specific data model of its own - there is no BaRS equivalent of eRS's UBRN, `ReferralPriority` , `ReferralState` or `Shortlist` extensions, and no referral-specific identifier system was found anywhere in its published API documentation.
web	github.com	The NHS England FHIR Genomics Implementation Guide - Clinical Scenarios page may contain further scenarios relevant to all three - not reviewed in detail here. The worked example already in this IG is Cancer Background Information for Use Cases - Genetic Counselling Referral Across Regions , covering scenario 1 (a confirmed Lynch syndrome variant, with relatives under different regional genetics services referred for cascade testing).
web	hl7.eu	Follow API Contracts from EURIDICE EU Health Data API and Data Contracts from EHDS in particular:
web	hl7.eu	HL7 Europe Laboratory Report
web	future.nhs.uk	This specification adds England-specific data modeling from NHS England Canonical Data Model ( NHS Futures - Canonical Data Model (CDM) ). This specification also conforms to HL7 UK Core.
web	hl7.eu	Process flows and background information are the same as EU Health Data API and so are not repeated here.
web	drive.google.com	Feeds patient identity data into the Patient Identity Registry (PIX Patient Identity Feed ITI-8, or the mobile equivalent PIXm ITI-93). The NHS England HL7 v2 standard for this feed is the NHS England HL7 v2 ADT Message Specification .
web	digital.nhs.uk	Queries the Patient Identity Registry for patient demographics (PDQm Mobile Patient Demographics Query ITI-78). This is roughly equivalent to the NHS Personal Demographics Service - FHIR API .
web	github.com	Regional Integration Engine (RIE) - including the wire-tap to Regional Shared Care Records (Greater Manchester Care Record (GMCR) and Lancashire and South Cumbria)
web	github.com	Regional Integration Engine (RIE) - including the wire-tap to Regional Shared Care Records (Greater Manchester Care Record (GMCR) and Lancashire and South Cumbria)
web	github.com	ctDNA NHS England Unified Genomic Record (UGR) - Phase 1 ( `DiagnosticReport` + PDF)
web	hl7.eu	ITI-105 Simplified Publish (HL7 FHIR)
web	wiki.ihe.net	Using an HL7 Europe Laboratory Report FHIR Document to share laboratory reports is a modernisation of IHE Sharing Laboratory Reports (XD-LAB) , replacing HL7 Clinical Document Architecture (CDA) with an HL7 FHIR Document.
web	github.com	NHS England Genomic Order Management Service (GOMS) - the RIE retrieves Laboratory Orders exposed by GOMS this way
web	github.com	StarLIMS / iGene Integration
web	architectelevator.com	A note on "top down". In summary, this approach is top down - but not in the usual sense of management or central NHS organisations (the "penthouse") passing instructions down to the "engine rooms" actually delivering the work. The analogy is borrowed from Gregor Hohpe's Architect Elevator . Here, "top" means the practitioner - who is focused on the patient, the real top of this whole process - and "top down" means starting there and riding the elevator down through every floor in between: workflow, information requirements, data model, Interoperability Data Model, and only then implementation. Skipping floors - whether that's the penthouse handing instructions straight to the engine room, or a developer being handed a technical instruction with none of the floors in between - is exactly the trap explored in Examples of Common Interoperability Project Problems below.
web	ckm.openehr.org	openEHR archetypes - a mature, clinically-led modelling approach with its own large public library ( openEHR Clinical Knowledge Manager ). See Laboratory Analyte Result in this IG, which is built directly against the openEHR Laboratory analyte result archetype.
web	ckm.openehr.org	openEHR archetypes - a mature, clinically-led modelling approach with its own large public library ( openEHR Clinical Knowledge Manager ). See Laboratory Analyte Result in this IG, which is built directly against the openEHR Laboratory analyte result archetype.
web	github.com	LOINC panels - for laboratory/genomics results specifically, a defined LOINC panel (a fixed set of LOINC-coded observations) can itself act as the data model for a result, since it already specifies the discrete elements a result needs. See the LRI Discrete Variant Panel used in OMICS DSS Result Integration and the LOINC cytogenetics panel table in Haemato-Oncology Diagnostic Pathway .
web	github.com	LOINC panels - for laboratory/genomics results specifically, a defined LOINC panel (a fixed set of LOINC-coded observations) can itself act as the data model for a result, since it already specifies the discrete elements a result needs. See the LRI Discrete Variant Panel used in OMICS DSS Result Integration and the LOINC cytogenetics panel table in Haemato-Oncology Diagnostic Pathway .
web	wiki.ihe.net	IHE Inter Laboratory Workflow
web	www.ihe.net	IHE Laboratory Technical Framework Supplement Inter-Laboratory Workflow (ILW)
web	github.com	Pathology to Genomics Reflex
web	github.com	Regional Integration Engine (RIE)
web	github.com	See NHS England Genomic Order Management Service (GOMS) for the future use of the GOMS FHIR API to deliver sub-contracted orders (LAB-35) to, and receive results (LAB-36) from, other GMSAs.
web	digital.nhs.uk	See NHS England Genomic Order Management Service (GOMS) for the future use of the GOMS FHIR API to deliver sub-contracted orders (LAB-35) to, and receive results (LAB-36) from, other GMSAs.
web	github.com	See Haemato-Oncology Diagnostic Pathway for the CFT Shire → HODS-orchestrated reflex use case (pathology test order following on to a genomics test order, and the HODS-orchestrated haematological malignancy pathway), including the NHS North West Children Cancer notification example.
web	hl7.eu	EURIDICE EU Health Data API - Authorization
web	profiles.ihe.net	IHE Internet User Authorization (IUA)
web	www.ihe.net	IHE Pathology and Laboratory Medicine (PaLM) Technical Framework - Volume 1 HL7 v2
web	digital.nhs.uk	Initially only the IHE `LAB-1` and `LAB-3` are in focus. Later stages will include the use of Genomic Order Management Service .
web	github.com	Histocompatibility and Immunogenetics
web	github.com	Cancer Background Information for Use Cases
web	github.com	NE&Y Management Information (ctDNA) - paper-based, no electronic LAB-1 transaction
web	mft.nhs.uk	Within the system creating the genomics order, the practitioner will select a form for the test required. Below are several examples from North West Genomic Laboratory Hub - Test Request Forms . How this is implemented will vary between different NHS organisations and systems they use.
web	en.wikipedia.org	For submission, this form will be converted by the Order Placer to a communication format called HL7 FHIR (and for compatability reasons HL7 v2 . If the Order Placer has a FHIR enabled Electronic Patient Record (e.g. EPIC, Cerner, Meditech, etc), they may use HL7 SDC - Form Data Extraction to assist with this process.
web	github.com	Regional Integration Engine (RIE) - including the wire-tap to Regional Shared Care Records (Greater Manchester Care Record (GMCR) and Lancashire and South Cumbria), and the NHS England Unified Genomic Record
web	github.com	Regional Integration Engine (RIE) - including the wire-tap to Regional Shared Care Records (Greater Manchester Care Record (GMCR) and Lancashire and South Cumbria), and the NHS England Unified Genomic Record
web	github.com	NE&Y Management Information (ctDNA) - wire-tapped, converted to a FHIR Message R01 with the PDF removed
web	github.com	NE&Y Management Information (ctDNA) - the FHIR Message O21 converted daily from the iGene CSV export
web	github.com	BCR-ABL Monitoring (Cepheid ASTM to iGene)
web	drive.google.com	Note: Event trigger definitions based on NHS England HL7 v2 ADT Message Specification which is NHS England's supplement to IHE Technical Framework Volume2: Patient Identity Management [ITI-30] and Patient Encounter Management [ITI-31] .
web	profiles.ihe.net	Note: Event trigger definitions based on NHS England HL7 v2 ADT Message Specification which is NHS England's supplement to IHE Technical Framework Volume2: Patient Identity Management [ITI-30] and Patient Encounter Management [ITI-31] .
web	profiles.ihe.net	Note: Event trigger definitions based on NHS England HL7 v2 ADT Message Specification which is NHS England's supplement to IHE Technical Framework Volume2: Patient Identity Management [ITI-30] and Patient Encounter Management [ITI-31] .
web	profiles.ihe.net	IHE Patient Administration Management (PAM) //HL7 v2 ADT Patient Encounter Management (A02, A08, and A12) (Denmark) HL7 FHIR version DK MedCom HospitalNotification
web	medcomfhir.dk	(Denmark) HL7 FHIR version DK MedCom HospitalNotification
web	hl7.eu	EURIDICE EU Health Data API - Document Exchange
web	profiles.ihe.net	IHE Mobile access to Health Documents [MHD]
web	nhsconnect.github.io	INTEROPen/NHS England Care Connect API updated to FHIR R4.
web	profiles.ihe.net	Retrieve Document [ITI-68]
web	profiles.ihe.net	Find Document References [ITI-67]
web	digital.nhs.uk	Message Exchange for Social Care and Health (MESH) API
web	drive.google.com	NHS England HL7 v2 ADT Message Specification .
web	www.ihe.net	IHE Pathology and Laboratory Medicine (PaLM) Technical Framework - Volume 2a (PaLM TF-2a) Transactions
web	www.enterpriseintegrationpatterns.com	Document Message
web	www.ihe.net	IHE PCC 360X Closed Loop Referral PCC TF-2 3.55
web	kevinmayfield.github.io	Care Coordination and 360 Referrals (proof of concept) - Referral Request [PCC-55] - the general (non-genomic) version of this page
web	digital.nhs.uk	NHS England Multicast Notification Service - Genomic Order Event
web	digital.nhs.uk	eRS FHIR API , BaRS FHIR API
web	digital.nhs.uk	eRS FHIR API , BaRS FHIR API
web	www.ihe.net	IHE PaLM Laboratory Testing Workflow (LTW) Placer Order Management [LAB-1] - see Laboratory Order (LAB-1)
web	www.ihe.net	IHE Inter-Laboratory Workflow (ILW) Sub-order Management [LAB-35] - see Sub Order Management (LAB-35)
web	www.ihe.net	IHE RAD Scheduled Workflow Placer Order Management [RAD-2]
web	www.ihe.net	IHE PCC 360X Closed Loop Referral PCC TF-2 3.56
web	kevinmayfield.github.io	Care Coordination and 360 Referrals (proof of concept) - Referral Decline [PCC-56]
web	www.ihe.net	IHE PaLM Laboratory Testing Workflow (LTW) Placer Order Management [LAB-1] - order cancelled by the Order Filler; see Laboratory Order (LAB-1)
web	www.ihe.net	IHE RAD Scheduled Workflow Filler Order Management [RAD-3] - order cancelled by the Order Filler
web	www.ihe.net	IHE PCC 360X Closed Loop Referral PCC TF-2 3.57
web	kevinmayfield.github.io	Care Coordination and 360 Referrals (proof of concept) - Referral Outcome [PCC-57]
web	www.ihe.net	IHE PaLM Laboratory Testing Workflow (LTW) Order Results Management [LAB-3] - see Laboratory Report (LAB-3)
web	www.ihe.net	IHE Inter-Laboratory Workflow (ILW) Sub-order Results Delivery [LAB-36] - see Sub-order Results Delivery (LAB-36)
web	www.ihe.net	IHE RAD Results Distribution (RD) Send Imaging Result [RAD-128]
web	hl7.eu	EURIDICE EU Health Data API - Patient Matching
web	profiles.ihe.net	IHE Mobile Patient Demographics Query [ITI-78]
web	hl7.eu	EURIDICE EU Health Data API - Resource Access
web	fhir.interweavedigital.com	This Encounter represents the overall episode or stay, for further information see Interweave Encounter Grouping
web	hl7.me	NLM Forms Library
web	github.com	Result panel for BCR-ABL1 monitoring (chronic myeloid leukaemia), capturing a Cepheid-class ASTM-communicating analyser's result as a Laboratory Analyte Result `Observation` - see BCR-ABL Monitoring .
web	hl7.me	NLM Forms Library
web	mft.nhs.uk	Source form: CYP2C19 R454 Mavacamten Test Request Form, DOC6602 (PDF)
web	hl7.me	NLM Forms Library
web	github.com	These two fields most directly relate to the Pathology to Genomics Reflex reflex use case, where a genomic order follows on from a prior pathology order/report ( `LAB-1` / `LAB-3` ) rather than starting the clinical episode itself - that page's own Current Process still models the pathology-to-genomics handoff entirely as HL7 v2/FHIR messaging ( `LAB-1` / `LAB-35` / `LAB-3` / `LAB-36` ), which is why today's answer is free text rather than a machine-resolvable reference. A query-based alternative may remove the need to duplicate pathology content into the genomic order/message at all: some NW pathology LIMS deployments (e.g. Medicus) already support the Australian AU eReq FHIR IG for on-demand query access to pathology orders (and potentially reports), and MFT separately exposes pathology data through Epic's own FHIR Query API . If a genomics laboratory can query pathology directly, these two free-text fields could be replaced by a reference instead - the Pathology Order Filler Number, Pathology Patient Identifier and/or Pathology Specimen Identifier - letting the genomic order carry a pointer for on-demand lookup rather than the pathology detail itself.
web	github.com	These two fields most directly relate to the Pathology to Genomics Reflex reflex use case, where a genomic order follows on from a prior pathology order/report ( `LAB-1` / `LAB-3` ) rather than starting the clinical episode itself - that page's own Current Process still models the pathology-to-genomics handoff entirely as HL7 v2/FHIR messaging ( `LAB-1` / `LAB-35` / `LAB-3` / `LAB-36` ), which is why today's answer is free text rather than a machine-resolvable reference. A query-based alternative may remove the need to duplicate pathology content into the genomic order/message at all: some NW pathology LIMS deployments (e.g. Medicus) already support the Australian AU eReq FHIR IG for on-demand query access to pathology orders (and potentially reports), and MFT separately exposes pathology data through Epic's own FHIR Query API . If a genomics laboratory can query pathology directly, these two free-text fields could be replaced by a reference instead - the Pathology Order Filler Number, Pathology Patient Identifier and/or Pathology Specimen Identifier - letting the genomic order carry a pointer for on-demand lookup rather than the pathology detail itself.
web	fhir.epic.com	These two fields most directly relate to the Pathology to Genomics Reflex reflex use case, where a genomic order follows on from a prior pathology order/report ( `LAB-1` / `LAB-3` ) rather than starting the clinical episode itself - that page's own Current Process still models the pathology-to-genomics handoff entirely as HL7 v2/FHIR messaging ( `LAB-1` / `LAB-35` / `LAB-3` / `LAB-36` ), which is why today's answer is free text rather than a machine-resolvable reference. A query-based alternative may remove the need to duplicate pathology content into the genomic order/message at all: some NW pathology LIMS deployments (e.g. Medicus) already support the Australian AU eReq FHIR IG for on-demand query access to pathology orders (and potentially reports), and MFT separately exposes pathology data through Epic's own FHIR Query API . If a genomics laboratory can query pathology directly, these two free-text fields could be replaced by a reference instead - the Pathology Order Filler Number, Pathology Patient Identifier and/or Pathology Specimen Identifier - letting the genomic order carry a pointer for on-demand lookup rather than the pathology detail itself.
web	hl7.me	NLM Forms Library
web	github.com	Result panel for STR-based chimerism testing (Clatterbridge post-transplant monitoring) - see Histocompatibility and Immunogenetics - Chimerism Testing Result Panel (Future?) for the source data table this Questionnaire structures.
web	hl7.me	NLM Forms Library
web	github.com	Test Specific Additional Ask At Order Entry Questions used alongside the common core order form for the "Chimerism Testing Blood (PB)" order screen within Histocompatibility and Immunogenetics orders (SNOMED CT `909871000000100` ) - the same "Test Specific" tier pattern WGS Test Additional Ask At Order Entry Questions follows for WGS orders - see Order Entry Questions and Histocompatibility and Immunogenetics . For the sibling HLA testing order screen, see HLA Tests - Transplant Ask At Order Entry .
web	github.com	Extracted from the `NTE` segments of a live Histotrac `ORM^O01` order for a Chimerism Testing (Performable) test - see the worked example for the full message. The original order carried two `NTE` segments (Specimen Source, then Patient Test(s)); only Specimen Source is asked here - Specimen Identifier (a speculative future `SPM-2` addition) and Patient Test(s) have both since been dropped as Ask At Order Entry questions. See also Chimerism Testing Result Panel for the (separate) structured result payload this order eventually produces.
web	github.com	Specimen Source is now the only Ask At Order Entry question this Questionnaire asks - Specimen Identifier (a speculative future `SPM-2` addition) and Patient Test(s) have both since been dropped. See Chimerism Testing Ask At Order Entry for the worked example this Questionnaire was extracted from (including the `OML_O21` version showing `SPM` in place of the original order's free-text `NTE` segments), and the item's own design/reference notes below for the reasoning behind its coding. Specimen Source is coded against SNOMED CT (the Specimen Type value set's own generic codes).
web	hl7.me	NLM Forms Library
web	mft.nhs.uk	Source form: GP Form: Cystic Fibrosis carrier test request, DOC4356 (DOCX)
web	hl7.me	NLM Forms Library
web	mft.nhs.uk	Source form: Deafness Testing Proforma - R67 Non-Syndromic Hearing Loss (PDF)
web	hl7.me	NLM Forms Library
web	mft.nhs.uk	Source form: GMS WGS Test Request Form - Cancer, V1.22 July 2024 (PDF)
web	hl7.me	NLM Forms Library
web	mft.nhs.uk	Source form: GMS WGS Test Request Form - Rare Disease, V2.0 April 2026 (PDF)
web	hl7.me	NLM Forms Library
web	hl7.me	NLM Forms Library
web	hl7.me	NLM Forms Library
web	github.com	G Number (Pedigree Number) is only applicable to Rare and Inherited Disease WGS orders - see Whole Genome Sequencing (WGS) - The Reverse Direction for how it relates to (and is distinct from) a genuine Order Group Number ( `ServiceRequest.requisition` ). See WGS Test Additional Ask At Order Entry Questions for `Related Individual` and the Consultand/Proband/mother-baby-fetus guidance that goes with it, now that both have moved there.
web	github.com	A real NHS Trust EPR order-entry screen for Rare and Inherited Disease WGS orders surfaces several fields with no equivalent anywhere in this Questionnaire, WGS Test Additional Ask At Order Entry Questions or Genomic Test Order - consistent with, and extending, the same gap analysis in Whole Genome Sequencing (WGS) :
web	github.com	Family/test structure (Singleton/Duo/Trio/Tumour/Germline) - a required field selecting which WGS family structure or sample type the order is for. This Questionnaire has no equivalent; Distributed WGS (dWGS) is the only place in this IG with a comparable concept ( `FamilyStructure` / `ParticipantType` on `dWGSAskAtOrderEntry` ), and that is a different Questionnaire for a different pathway.
web	hl7.me	NLM Forms Library
web	hl7.me	NLM Forms Library
web	hl7.me	NLM Forms Library
web	github.com	Ask At Order Entry Questions used alongside the common core order form for the "HLA Tests - Transplant" order screen within Histocompatibility and Immunogenetics orders (SNOMED CT `909871000000100` ) - see Order Entry Questions and Histocompatibility and Immunogenetics . For the sibling Chimerism testing order screen, see Chimerism Test Additional Ask At Order Entry Questions .
web	github.com	Extracted from the `NTE` segments (each carrying HL7 v2 Table 0105-style comment type `OSQ` ) of a live Histotrac `ORM^O01` order - see the worked example for the full message. Each `NTE-3` value uses a local `Label:->Value` convention (e.g. `HLA Type:->Patient` ), split below into a question/answer pair.
web	standards.nhs.uk	Research summary (no NHS England-published order-comms/interoperability standard was found for these fields) : NHS England's published pathology standards ( Pathology Test and Results Standard , SNOMED CT for pathology reporting ) do not cover Histocompatibility and Immunogenetics (H&I) order entry specifically. The relevant national body is NHS Blood and Transplant (NHSBT) , not NHS England: its INF136 "User Guide for Histocompatibility and Immunogenetics Diagnostics Services" defines six national H&I request forms (Table 2) including `FRM1008` "H&I Organ Transplant (Patients and Donors)" and `FRM1010` "H&I Haematopoietic Stem Cell Transplantation (Recipients & Donors)", plus a sample-requirements table listing "HLA type of patient, donors or family members " for Solid Organ Transplantation - confirming HLA Type is a fixed national list, not free text, even though NHSBT does not publish a FHIR/LOINC/SNOMED binding for it. NHSBT's Solid Organ Transplantation section (4.5.1) also describes 24-hour on-call cover for " renal and, where appropriate, cardiothoracic transplantation", with liver/other transplant types noted separately as not having HLA match as a primary factor - consistent with Patient Type being a small, fixed list. The professional bodies BSHI (British Society for Histocompatibility and Immunogenetics) and BTS (British Transplantation Society) jointly publish clinical guidelines (e.g. the 2015 BTS/BSHI antibody characterisation guideline ) but not data/interoperability standards. This IG's own dependency, HL7's Genomics Reporting IG - Histocompatibility and Immunogenetic Reporting , profiles structured HLA genotype/haplotype results (LOINC `84413-4` Genotype display name, `48018-6` Gene studied, `13298-5` HLA-A [Type], the GL String and HGNC systems) but does not address order-entry "ask at order" questions like these. See each item below for LOINC panels and UK code lists relevant to that specific question.
web	digital.nhs.uk	Research summary (no NHS England-published order-comms/interoperability standard was found for these fields) : NHS England's published pathology standards ( Pathology Test and Results Standard , SNOMED CT for pathology reporting ) do not cover Histocompatibility and Immunogenetics (H&I) order entry specifically. The relevant national body is NHS Blood and Transplant (NHSBT) , not NHS England: its INF136 "User Guide for Histocompatibility and Immunogenetics Diagnostics Services" defines six national H&I request forms (Table 2) including `FRM1008` "H&I Organ Transplant (Patients and Donors)" and `FRM1010` "H&I Haematopoietic Stem Cell Transplantation (Recipients & Donors)", plus a sample-requirements table listing "HLA type of patient, donors or family members " for Solid Organ Transplantation - confirming HLA Type is a fixed national list, not free text, even though NHSBT does not publish a FHIR/LOINC/SNOMED binding for it. NHSBT's Solid Organ Transplantation section (4.5.1) also describes 24-hour on-call cover for " renal and, where appropriate, cardiothoracic transplantation", with liver/other transplant types noted separately as not having HLA match as a primary factor - consistent with Patient Type being a small, fixed list. The professional bodies BSHI (British Society for Histocompatibility and Immunogenetics) and BTS (British Transplantation Society) jointly publish clinical guidelines (e.g. the 2015 BTS/BSHI antibody characterisation guideline ) but not data/interoperability standards. This IG's own dependency, HL7's Genomics Reporting IG - Histocompatibility and Immunogenetic Reporting , profiles structured HLA genotype/haplotype results (LOINC `84413-4` Genotype display name, `48018-6` Gene studied, `13298-5` HLA-A [Type], the GL String and HGNC systems) but does not address order-entry "ask at order" questions like these. See each item below for LOINC panels and UK code lists relevant to that specific question.
web	nhsbtdbe.blob.core.windows.net	Research summary (no NHS England-published order-comms/interoperability standard was found for these fields) : NHS England's published pathology standards ( Pathology Test and Results Standard , SNOMED CT for pathology reporting ) do not cover Histocompatibility and Immunogenetics (H&I) order entry specifically. The relevant national body is NHS Blood and Transplant (NHSBT) , not NHS England: its INF136 "User Guide for Histocompatibility and Immunogenetics Diagnostics Services" defines six national H&I request forms (Table 2) including `FRM1008` "H&I Organ Transplant (Patients and Donors)" and `FRM1010` "H&I Haematopoietic Stem Cell Transplantation (Recipients & Donors)", plus a sample-requirements table listing "HLA type of patient, donors or family members " for Solid Organ Transplantation - confirming HLA Type is a fixed national list, not free text, even though NHSBT does not publish a FHIR/LOINC/SNOMED binding for it. NHSBT's Solid Organ Transplantation section (4.5.1) also describes 24-hour on-call cover for " renal and, where appropriate, cardiothoracic transplantation", with liver/other transplant types noted separately as not having HLA match as a primary factor - consistent with Patient Type being a small, fixed list. The professional bodies BSHI (British Society for Histocompatibility and Immunogenetics) and BTS (British Transplantation Society) jointly publish clinical guidelines (e.g. the 2015 BTS/BSHI antibody characterisation guideline ) but not data/interoperability standards. This IG's own dependency, HL7's Genomics Reporting IG - Histocompatibility and Immunogenetic Reporting , profiles structured HLA genotype/haplotype results (LOINC `84413-4` Genotype display name, `48018-6` Gene studied, `13298-5` HLA-A [Type], the GL String and HGNC systems) but does not address order-entry "ask at order" questions like these. See each item below for LOINC panels and UK code lists relevant to that specific question.
web	bts.org.uk	Research summary (no NHS England-published order-comms/interoperability standard was found for these fields) : NHS England's published pathology standards ( Pathology Test and Results Standard , SNOMED CT for pathology reporting ) do not cover Histocompatibility and Immunogenetics (H&I) order entry specifically. The relevant national body is NHS Blood and Transplant (NHSBT) , not NHS England: its INF136 "User Guide for Histocompatibility and Immunogenetics Diagnostics Services" defines six national H&I request forms (Table 2) including `FRM1008` "H&I Organ Transplant (Patients and Donors)" and `FRM1010` "H&I Haematopoietic Stem Cell Transplantation (Recipients & Donors)", plus a sample-requirements table listing "HLA type of patient, donors or family members " for Solid Organ Transplantation - confirming HLA Type is a fixed national list, not free text, even though NHSBT does not publish a FHIR/LOINC/SNOMED binding for it. NHSBT's Solid Organ Transplantation section (4.5.1) also describes 24-hour on-call cover for " renal and, where appropriate, cardiothoracic transplantation", with liver/other transplant types noted separately as not having HLA match as a primary factor - consistent with Patient Type being a small, fixed list. The professional bodies BSHI (British Society for Histocompatibility and Immunogenetics) and BTS (British Transplantation Society) jointly publish clinical guidelines (e.g. the 2015 BTS/BSHI antibody characterisation guideline ) but not data/interoperability standards. This IG's own dependency, HL7's Genomics Reporting IG - Histocompatibility and Immunogenetic Reporting , profiles structured HLA genotype/haplotype results (LOINC `84413-4` Genotype display name, `48018-6` Gene studied, `13298-5` HLA-A [Type], the GL String and HGNC systems) but does not address order-entry "ask at order" questions like these. See each item below for LOINC panels and UK code lists relevant to that specific question.
web	github.com	HLA Type and Patient Type are carried as `Observation` s referenced from `ServiceRequest.supportingInfo` ; Patient Test(s) maps directly to `ServiceRequest.orderDetail` ; Organ maps to `Specimen.collection.bodySite` , the body site the specimen was collected from - see Ask At Order Entry Questions for the worked example this Questionnaire was extracted from, and each item's own design/reference notes below for the coding behind each answer option. Patient Test(s) is coded against Histotrac , Specimen Source's Blood/Buccal and Organ's Kidney/Pancreas/Islets are coded against SNOMED CT, and the rest (HLA Type, Patient Type, Specimen Source's Other, and Organ's two "Simultaneous…" combination values) remain coded locally against the `NWGMSA` CodeSystem, since no national coded binding exists for them.
web	hl7.me	NLM Forms Library
web	mft.nhs.uk	Source form: HRD and Tumour BRCA Test Request Form (PDF)
web	hl7.me	NLM Forms Library
web	nhsbtdbe.blob.core.windows.net	Ask At Order Entry Questions for NHS Blood and Transplant's (NHSBT) national H&I Haematopoietic Stem Cell Transplantation (Recipients & Donors) request form ( `FRM1010` , form "3C" in NHSBT's own numbering) - see NHSBT's published form and Histocompatibility and Immunogenetics .
web	github.com	Ask At Order Entry Questions for NHS Blood and Transplant's (NHSBT) national H&I Haematopoietic Stem Cell Transplantation (Recipients & Donors) request form ( `FRM1010` , form "3C" in NHSBT's own numbering) - see NHSBT's published form and Histocompatibility and Immunogenetics .
web	hl7.me	NLM Forms Library
web	mft.nhs.uk	Source form: Molecular Genomic Testing Request Form - Haemato-Oncology (DOCX)
web	hl7.me	NLM Forms Library
web	mft.nhs.uk	Source form: Request for Genetic Testing for Haemoglobinopathies, DOC4544 (PDF)
web	hl7.me	NLM Forms Library
web	mft.nhs.uk	Source form: Request for Prenatal Diagnosis of Haemoglobinopathies, DOC4544 (PDF)
web	hl7.me	NLM Forms Library
web	nhsbtdbe.blob.core.windows.net	Ask At Order Entry Questions for NHS Blood and Transplant's (NHSBT) national H&I Organ Transplant (Patients and Donors) request form ( `FRM1008` , form "3B" in NHSBT's own numbering) - see NHSBT's published form and Histocompatibility and Immunogenetics .
web	github.com	Ask At Order Entry Questions for NHS Blood and Transplant's (NHSBT) national H&I Organ Transplant (Patients and Donors) request form ( `FRM1008` , form "3B" in NHSBT's own numbering) - see NHSBT's published form and Histocompatibility and Immunogenetics .
web	hl7.me	NLM Forms Library
web	mft.nhs.uk	Source form: Genomic Testing Request Form - Rare Disease, DOC4900 (DOCX)
web	hl7.me	NLM Forms Library
web	github.com	Result panel for a Variant (Reportable Variant) `Observation` , structured around the HL7 v2 Lab Results Interface (LRI) 's own Discrete Variant Panel (LOINC `81250-3` , LRI Chapter 5 Table 5-2, plus the Structural Variant Addenda in Table 5-3) - the same panel the NTHL1 and CFTR examples are based on. LRI already defines this as a single panel covering both simple and structural variants; this Questionnaire follows that same single-panel structure rather than iGene's separate per-variant-type field sets, mapping each item to both its LRI `OBX` row and its corresponding component in the HL7 Genomics Reporting IG's Variant profile. See OMICS DSS Result Integration for the full LRI/FHIR/iGene three-way mapping table.
web	github.com	`item.definition` / `item.code` are cross-checked against this IG's current `Variant` examples: Variant - NTHL1 and Variant - CFTR (both based on LRI examples), `Observation-EGFR-Variant-ctDNA` , `Observation-BRCA1` , and the four `Variant` Observations (a small variant, an intragenic CNV, a multi-gene CNV and a structural variant) in Bundle-ctdna9737383222-testresults , plus iGene's own custom field spec for variants ( `NotGit/iGene Custom Fields Master Dataset - Updated 13-Aug-26.xlsx` , "Variant Level Data" sheet) - only elements genuinely populated by at least one of these is modelled, since these are the only elements needed for the iGene feed. See OMICS DSS Result Integration - Result Panel: Elements Not Included for the LRI/FHIR elements deliberately left out because no current example populates them.
web	hl7.me	NLM Forms Library
web	mft.nhs.uk	Source form: Genomic Variant Review Request Form, R442.1/DOC6004 (DOCX)
web	hl7.me	NLM Forms Library
web	github.com	Not to be confused with dWGS Sub-Order Manifest - that Questionnaire is the digital manifest for a distributed WGS sub-contracted order between GLHs (see dWGS ); this one is the plain paper form used for a local WGS request, and does not by itself imply any sub-contracting.
web	mft.nhs.uk	Source form: NW GLH Form to accompany samples for Whole Genome Sequencing (WGS) Tests (PDF)
web	github.com	Not to be confused with: dWGS Sub-Order Manifest - that Questionnaire is the digital manifest for a distributed WGS sub-contracted order between GLHs (see dWGS ); this one is the plain paper form used for a local WGS request. Nor with GMS WGS Rare Disease / GMS WGS Cancer - those are the national NHS Genomic Medicine Service-branded WGS request forms, not an NW GLH-specific one, and are considerably richer (mandatory HPO terms, a repeating family-member table, no equivalent of either on this form).
web	hl7.me	NLM Forms Library
web	hl7.me	NLM Forms Library
web	github.com	Ask At Order Entry Questions for a distributed WGS (dWGS) sub-contracted order (IHE LTW `LAB-35` ), used alongside the common core order form - see Order Entry Questions . This Questionnaire carries only the fields from the dWGS digital manifest (NHS England `RGL to SGL SOP` Appendix 3, plus 7 NW GMS local extension fields) that are not already asked by the common core - see dWGS Sub-Order Manifest for the full 44-field manifest description, including the fields this Questionnaire deliberately omits because the common core already asks them.
web	github.com	This Questionnaire `derivedFrom` /extends Genomic Test Order - see Order Entry Questions . It carries the fields from the dWGS digital manifest (NHS England `RGL to SGL SOP` Appendix 3, plus 7 NW GMS local extension fields) that are not already asked by the common core - see dWGS Sub-Order Manifest for the full 44-field manifest description this Questionnaire was extracted from.
web	github.com	Singleton/Duo/Trio - see Singleton, Duo and Trio testing
web	github.com	Not carried over from the manifest : `patient_forename` , `patient_surname` , patient date of birth, NHS Number, `patient_medical_record_number` (Hospital Number), Sample Material Type (Specimen Type), and Specimen Collection Date all use the same `linkId` s and codes as items already in Genomic Test Order 's own Patient and Specimen groups - see the seven rows marked Genomic Test Order (base) in dWGS - Field mapping for the full list. They remain part of dWGS Sub-Order Manifest 's complete manifest description, just not repeated here.
web	hl7.me	NLM Forms Library
web	github.com	CSV manifest description , not an Ask At Order Entry Questionnaire - this Questionnaire documents the complete digital manifest for a distributed WGS (dWGS) sub-contracted order (IHE LTW `LAB-35` ), sent by a Requesting Genomic Laboratory (RGL) to North West Genomics acting as Sequencing Genomic Laboratory (SGL): the 37 national digital manifest fields (NHS England `RGL to SGL SOP` Appendix 3) plus 7 NW GMS local extension fields, with `item.definition` mappings to FHIR where a confirmed mapping exists - see dWGS . It deliberately carries every manifest field, including several also asked by Genomic Test Order (Patient name/DOB/NHS number/Hospital Number, Specimen Type, Specimen Collection Date) - because it describes the full CSV structure a Requesting Genomic Laboratory actually sends, not an incremental set of order-entry questions. For the genuinely additional Ask At Order Entry content - the manifest fields not already covered by the common core - see dWGS Ask At Order Entry Questions , which `derivedFrom` / extends Genomic Test Order in the usual way.
web	github.com	This Questionnaire is a CSV manifest description , not an Ask At Order Entry Questionnaire - it documents the complete 44-field digital manifest (37 national fields plus 7 NW GMS local extension fields) a Requesting Genomic Laboratory sends for a distributed WGS (dWGS) sub-contracted order, including several fields also asked by Genomic Test Order itself. See dWGS - Ask at Order Entry: the dWGS digital manifest for the full narrative, dWGS - Field mapping for the complete field-by-field CSV/HL7 v2/FHIR mapping, and dWGS Ask At Order Entry Questions for the genuinely additional Ask At Order Entry Questionnaire this manifest was split from.
web	github.com	This Questionnaire is a CSV manifest description , not an Ask At Order Entry Questionnaire - it documents the complete 44-field digital manifest (37 national fields plus 7 NW GMS local extension fields) a Requesting Genomic Laboratory sends for a distributed WGS (dWGS) sub-contracted order, including several fields also asked by Genomic Test Order itself. See dWGS - Ask at Order Entry: the dWGS digital manifest for the full narrative, dWGS - Field mapping for the complete field-by-field CSV/HL7 v2/FHIR mapping, and dWGS Ask At Order Entry Questions for the genuinely additional Ask At Order Entry Questionnaire this manifest was split from.
web	github.com	Unlike the NW GLH Paper Test Request Forms , this Questionnaire genuinely does carry its own Patient/order-identifier fields directly (it doesn't rely on `derivedFrom` /extends Genomic Test Order for them) - see dWGS - Field mapping for the full 44-field table; the fields below are the identifying subset most comparable to what those other Ask At Order Entry Questionnaires' own Summary sections list:
web	hl7.me	NLM Forms Library
web	github.com	Represents the flat-file shape of `NEYctDNA.csv` , iGene's daily CSV export of ctDNA orders and reports copied to NE&Y Genomics for regional management information - see ctDNA Management Information (NW to NE&Y Genomics) . One row per test; a report row carries both order fields and report/result fields together, so this Questionnaire models the full row - the order-only columns populate the FHIR Message O21 Laboratory Order ( Bundle-GenomicsOrderMessage-ctDNA ), while the report/result columns ( `ReportStatusDateTime` , `ReportIdentifier` , `ObservationResultStatus` , `ObservationDateTime` , `ObservationIdentifierCode` , `ObservationIdentifierDescription` ) instead populate the separate FHIR Message R01 Laboratory Report ( Bundle-GenomicsReportMessage-ctDNA , itself based on an HL7 v2 `ORU^R01` , not O21). See ctDNA Management Information - Laboratory Order O21 Mapping for the O21-only columns and Laboratory Report R01 Mapping for the report/result columns - the two markdown tables split this Questionnaire's items by which FHIR Message actually carries them, even though all items live on this one Questionnaire. Named for iGene (the common source) rather than NE&Y/ctDNA specifically, since the shape isn't NE&Y- or ctDNA-specific - it's the same LAB-2 CSV re-export pattern iGene Work Order Export documents for StarLIMS/DLIMS work orders, just with ctDNA report/result columns added.
web	github.com	Represents the flat-file shape of `NEYctDNA.csv` , iGene's daily CSV export of ctDNA orders and reports copied to NE&Y Genomics for regional management information - see ctDNA Management Information (NW to NE&Y Genomics) . One row per test; a report row carries both order fields and report/result fields together, so this Questionnaire models the full row - the order-only columns populate the FHIR Message O21 Laboratory Order ( Bundle-GenomicsOrderMessage-ctDNA ), while the report/result columns ( `ReportStatusDateTime` , `ReportIdentifier` , `ObservationResultStatus` , `ObservationDateTime` , `ObservationIdentifierCode` , `ObservationIdentifierDescription` ) instead populate the separate FHIR Message R01 Laboratory Report ( Bundle-GenomicsReportMessage-ctDNA , itself based on an HL7 v2 `ORU^R01` , not O21). See ctDNA Management Information - Laboratory Order O21 Mapping for the O21-only columns and Laboratory Report R01 Mapping for the report/result columns - the two markdown tables split this Questionnaire's items by which FHIR Message actually carries them, even though all items live on this one Questionnaire. Named for iGene (the common source) rather than NE&Y/ctDNA specifically, since the shape isn't NE&Y- or ctDNA-specific - it's the same LAB-2 CSV re-export pattern iGene Work Order Export documents for StarLIMS/DLIMS work orders, just with ctDNA report/result columns added.
web	github.com	Represents the flat-file shape of `NEYctDNA.csv` , iGene's daily CSV export of ctDNA orders and reports copied to NE&Y Genomics for regional management information - see ctDNA Management Information (NW to NE&Y Genomics) . One row per test; a report row carries both order fields and report/result fields together, so this Questionnaire models the full row - the order-only columns populate the FHIR Message O21 Laboratory Order ( Bundle-GenomicsOrderMessage-ctDNA ), while the report/result columns ( `ReportStatusDateTime` , `ReportIdentifier` , `ObservationResultStatus` , `ObservationDateTime` , `ObservationIdentifierCode` , `ObservationIdentifierDescription` ) instead populate the separate FHIR Message R01 Laboratory Report ( Bundle-GenomicsReportMessage-ctDNA , itself based on an HL7 v2 `ORU^R01` , not O21). See ctDNA Management Information - Laboratory Order O21 Mapping for the O21-only columns and Laboratory Report R01 Mapping for the report/result columns - the two markdown tables split this Questionnaire's items by which FHIR Message actually carries them, even though all items live on this one Questionnaire. Named for iGene (the common source) rather than NE&Y/ctDNA specifically, since the shape isn't NE&Y- or ctDNA-specific - it's the same LAB-2 CSV re-export pattern iGene Work Order Export documents for StarLIMS/DLIMS work orders, just with ctDNA report/result columns added.
web	github.com	Each item's `linkId` is the literal CSV column header, `type` the FHIR datatype the column's values coerce to, and `definition` the FHIR field the column populates once converted into the relevant FHIR Message - many of these reuse the exact same field as the equivalent item already defined on Genomic Test Order or iGene Work Order Export , since this is the same underlying order data plus report/result-specific columns those don't carry. See NEYctDNA.csv for the source file this was extracted from.
web	hl7.me	NLM Forms Library
web	github.com	Represents the flat-file shape of `StarLIMSSampleData.csv` , iGene's daily CSV export of work orders sub-contracted to StarLIMS (the Liverpool GLH satellite LIMS) - see StarLIMS / iGene Integration . The same export shape/pattern is reused by the OMICS DSS Result Integration use case for DLIMS work order metadata (see that page's Future Process) - one row per sub-contracted test, named for iGene (the common source) rather than StarLIMS specifically, since it isn't StarLIMS-specific.
web	github.com	Represents the flat-file shape of `StarLIMSSampleData.csv` , iGene's daily CSV export of work orders sub-contracted to StarLIMS (the Liverpool GLH satellite LIMS) - see StarLIMS / iGene Integration . The same export shape/pattern is reused by the OMICS DSS Result Integration use case for DLIMS work order metadata (see that page's Future Process) - one row per sub-contracted test, named for iGene (the common source) rather than StarLIMS specifically, since it isn't StarLIMS-specific.
web	github.com	Each item's `linkId` is the literal CSV column header, `type` the FHIR datatype the column's values coerce to, and `definition` the FHIR field the column populates once imported - many of these reuse the exact same field as the equivalent item already defined on Genomic Test Order , since a sub-contracted work order carries the same underlying data as any other order. See StarLIMS / iGene Integration - Work Order CSV Export from iGene for a simple description of each column plus its FHIR mapping (also reused, unchanged, by OMICS DSS Result Integration ), and StarLIMSSampleData.csv for the source file this was extracted from.
web	github.com	Each item's `linkId` is the literal CSV column header, `type` the FHIR datatype the column's values coerce to, and `definition` the FHIR field the column populates once imported - many of these reuse the exact same field as the equivalent item already defined on Genomic Test Order , since a sub-contracted work order carries the same underlying data as any other order. See StarLIMS / iGene Integration - Work Order CSV Export from iGene for a simple description of each column plus its FHIR mapping (also reused, unchanged, by OMICS DSS Result Integration ), and StarLIMSSampleData.csv for the source file this was extracted from.
web	github.com	Each item's `linkId` is the literal CSV column header, `type` the FHIR datatype the column's values coerce to, and `definition` the FHIR field the column populates once imported - many of these reuse the exact same field as the equivalent item already defined on Genomic Test Order , since a sub-contracted work order carries the same underlying data as any other order. See StarLIMS / iGene Integration - Work Order CSV Export from iGene for a simple description of each column plus its FHIR mapping (also reused, unchanged, by OMICS DSS Result Integration ), and StarLIMSSampleData.csv for the source file this was extracted from.
web	hl7.me	NLM Forms Library
web	kevinmayfield.github.io	This page is adapted from Pathology and Laboratory - Report Types , with the examples replaced by those in this guide.
web	hl7.eu	General rule. The patterns follow the split in the HL7 Europe Health Data API (see Health Data API ) between Document Exchange and Resource Access (see also its FHIR Documents and Resources and Resource Exchange Patterns ): where the DiagnosticReport is at the top, the pattern applies to FHIR Messages (the `ORU^R01` equivalent, see Message Exchange ) and to FHIR RESTful Resource Access ( IPA / QEDm ) where the Composition is at the top, the pattern is a FHIR Document - FHIR RESTful Document Exchange ( IHE MHD ), for example the NHS England Unified Genomic Record (UGR)
web	hl7.eu	General rule. The patterns follow the split in the HL7 Europe Health Data API (see Health Data API ) between Document Exchange and Resource Access (see also its FHIR Documents and Resources and Resource Exchange Patterns ): where the DiagnosticReport is at the top, the pattern applies to FHIR Messages (the `ORU^R01` equivalent, see Message Exchange ) and to FHIR RESTful Resource Access ( IPA / QEDm ) where the Composition is at the top, the pattern is a FHIR Document - FHIR RESTful Document Exchange ( IHE MHD ), for example the NHS England Unified Genomic Record (UGR)
web	hl7.eu	General rule. The patterns follow the split in the HL7 Europe Health Data API (see Health Data API ) between Document Exchange and Resource Access (see also its FHIR Documents and Resources and Resource Exchange Patterns ): where the DiagnosticReport is at the top, the pattern applies to FHIR Messages (the `ORU^R01` equivalent, see Message Exchange ) and to FHIR RESTful Resource Access ( IPA / QEDm ) where the Composition is at the top, the pattern is a FHIR Document - FHIR RESTful Document Exchange ( IHE MHD ), for example the NHS England Unified Genomic Record (UGR)
web	hl7.eu	General rule. The patterns follow the split in the HL7 Europe Health Data API (see Health Data API ) between Document Exchange and Resource Access (see also its FHIR Documents and Resources and Resource Exchange Patterns ): where the DiagnosticReport is at the top, the pattern applies to FHIR Messages (the `ORU^R01` equivalent, see Message Exchange ) and to FHIR RESTful Resource Access ( IPA / QEDm ) where the Composition is at the top, the pattern is a FHIR Document - FHIR RESTful Document Exchange ( IHE MHD ), for example the NHS England Unified Genomic Record (UGR)
web	hl7.eu	General rule. The patterns follow the split in the HL7 Europe Health Data API (see Health Data API ) between Document Exchange and Resource Access (see also its FHIR Documents and Resources and Resource Exchange Patterns ): where the DiagnosticReport is at the top, the pattern applies to FHIR Messages (the `ORU^R01` equivalent, see Message Exchange ) and to FHIR RESTful Resource Access ( IPA / QEDm ) where the Composition is at the top, the pattern is a FHIR Document - FHIR RESTful Document Exchange ( IHE MHD ), for example the NHS England Unified Genomic Record (UGR)
web	kevinmayfield.github.io	Pathology and Laboratory - Report Types (source of this page)
web	hl7.eu	HL7 Europe Health Data API (1.0.0-ballot) - Document Exchange , Resource Access , FHIR Documents and Resources
web	hl7.eu	HL7 Europe Health Data API (1.0.0-ballot) - Document Exchange , Resource Access , FHIR Documents and Resources
web	hl7.eu	HL7 Europe Health Data API (1.0.0-ballot) - Document Exchange , Resource Access , FHIR Documents and Resources
web	hl7.eu	HL7 Europe Health Data API (1.0.0-ballot) - Document Exchange , Resource Access , FHIR Documents and Resources
web	hl7.eu	HL7 Europe Laboratory Report - Composition
web	www.rcpath.org	Royal College of Pathologists - Cancer datasets and tissue pathways
web	www.ihe.net	IHE PaLM Technical Framework Supplement - Specimen Event Tracking (SET) - a specification for tracking specimen progress along this process (not adopted here - background/reference only)
web	www.gs1uk.org	GS1 UK Healthcare - UK barcode standards that can be used with this process/workflow (not mandated here - background/reference only)
web	www.ihe.net	IHE Specimen Event Tracking (SET) is a specification for tracking the progress of specimens along this process, from collection through to storage, biobanking or disposal. It defines a Specimen Event Informer (SEI) actor, which sends specimen lifecycle event messages ( `LAB-40` ) to a Specimen Event Tracker (SET) actor - covering around 15 distinct event types across collecting, shipping, receiving and accepting a specimen. This would be the natural specification to formalise the manual steps above, were this process ever automated - not adopted here.
web	www.gs1uk.org	GS1 UK Healthcare publishes UK barcode standards (typically carried in a GS1 DataMatrix or GS1-128 symbol) that could be used to encode the key identifiers above on the test request paperwork or shipping package, so they can be scanned rather than re-keyed - not mandated here. GS1 identifies people, places and things using a small number of standard identification keys, each with its own numeric Application Identifier (AI, shown in brackets) inside the barcode:
web	www.gs1uk.org	Printed on a GS1-compliant patient wristband under the NHS Scan4Safety programme; the NHS Number itself is the local reference the GSRN resolves to, not encoded directly
web	ref.gs1.org	GS1's GDTI `AI (253)` (Global Document Type Identifier) could identify the test request document itself, but is not commonly used for this in UK pathology; more often carried as free text/local barcode alongside the GS1 keys above
web	www.gs1uk.org	GS1 UK's own pathology guidance recommends a GIAI per specimen carrier (tube, slide, etc.), assigned when the specimen is taken or the carrier manufactured, and unchanged as it passes between laboratories
web	nema.org	DICOM Tag Mapping
web	en.wikipedia.org	Both Bundle.link and Bundle.entry.link are defined to support providing additional context when Bundles are used (e.g. HATEOAS ).
web	www.ehealth.fgov.be	(copied from BE eHealth Platform Federal Core Profiles ) Extension able to hold a reference and a concept (Temporary solution until https://jira.hl7.org/browse/FHIR-44661 is solved and see Zulip: https://chat.fhir.org/#narrow/stream/179280-fhir.2Finfrastructure-wg/topic/Backporting.20CodeableReference )
web	wiki.ihe.net	This is a metadata field from XDS/MHD .
web	ckm.openehr.org	openEHR Project: Genomics
web	www.england.nhs.uk	NHS England Genomics Test Reporting Specification
web	hl7.eu	HL7 Europe Laboratory Report `Composition-eu-lab`
web	www.england.nhs.uk	NHS England Genomics Test Reporting Specification and ACGS reporting guidance
web	www.england.nhs.uk	Clinical indication and the National Genomic Test Directory test requested. Could instead be in the Composition header only
web	snomed.info	SNOMED CT Concept Domain Binding
web	drive.google.com	NHS England HL7 v2 DG1 ADT Message Specification
web	tx.hl7europe.eu	eHDSI Illness and Disorder
web	www.omg.org	ServD
web	www.archi-lab.io	Rule 3: Reference Other Aggregates by Identity (Implementing Domain Driven Design)
web	www.enterpriseintegrationpatterns.com	Enterprise Integration Patterns - Correlation Identifier .
web	hl7-definition.caristix.com	HL7 v2 EI - Entity Identifier
web	hl7-definition.caristix.com	HL7 v2 CX - Extended Composite ID with Check Digit
web	ihe.net	XDS metadata equivalent
web	www.ihe-europe.net	IHE Europe Document Metadata (this contains references to NHS England terminology)
web	www.digihealthcare.scot	Digital Health and Care Scotland - (EH4001) CLINICAL DOCUMENT INDEXING STANDARDS
web	www.datadictionary.nhs.uk	ACTIVITY LOCATION TYPE CODE
web	drive.google.com	NHS England HL7 v2 PV1 ADT Message Specification
web	fhir.interweavedigital.com	For detailed notes on FHIR Encounter in a NHS region, see Yorkshire and Humberside Care Record (YHCR) - FHIR Encounter ( YHCR GitHub Repository )
web	github.com	For detailed notes on FHIR Encounter in a NHS region, see Yorkshire and Humberside Care Record (YHCR) - FHIR Encounter ( YHCR GitHub Repository )
web	www.enterpriseintegrationpatterns.com	`Messaging` Event Messsage
web	digital.nhs.uk	NHS England - Multicast Notification Service API
web	github.com	This section is currently being elaborated - see Distributed WGS (dWGS) .
web	github.com	A family (pedigree) whose members are tested together, for example a Distributed WGS (dWGS) Singleton, Duo or Trio.
web	medizininformatik-initiative.github.io	A related profile can be found in HL7 Germany (Medizininformatik-Initiative): MII PR MolGen Familienanamnese .
web	www.datadictionary.nhs.uk	GS1 GLOBAL SERVICE RELATION NUMBER - identifies the patient as recipient of a service, under the NHS Scan4Safety programme. See also GS1 Pathology .
web	www.gs1uk.org	GS1 GLOBAL SERVICE RELATION NUMBER - identifies the patient as recipient of a service, under the NHS Scan4Safety programme. See also GS1 Pathology .
web	gs1hospital.gs1.org	GS1 GLOBAL SERVICE RELATION NUMBER - identifies the patient as recipient of a service, under the NHS Scan4Safety programme. See also GS1 Pathology .
web	www.datadictionary.nhs.uk	GS1 SERVICE RELATION INSTANCE NUMBER - the GS1-standardised equivalent of an account/visit number, under the NHS Scan4Safety programme. See also GS1 Pathology .
web	gs1hospital.gs1.org	GS1 SERVICE RELATION INSTANCE NUMBER - the GS1-standardised equivalent of an account/visit number, under the NHS Scan4Safety programme. See also GS1 Pathology .
web	www.gs1.org	No NHS Data Dictionary entry - this is GS1's own global standard, not an NHS-specific data item. See GS1 Serial Shipping Container Code (SSCC) and GS1 Pathology . The generic, non-GS1 equivalent already used elsewhere in this IG is Shipment Tracking Number .
web	gs1hospital.gs1.org	No NHS Data Dictionary entry - this is GS1's own global standard, not an NHS-specific data item. See GS1 Serial Shipping Container Code (SSCC) and GS1 Pathology . The generic, non-GS1 equivalent already used elsewhere in this IG is Shipment Tracking Number .
web	fhir.nwgenomics.nhs.uk	FHIR (this IG)
web	fhir.nwgenomics.nhs.uk	Questionnaire (linkId)
web	kevinmayfield.github.io	Clinical Referral logical model (Patient Care Coordination, proof of concept) - the forms and clinical document pattern used here
web	github.com	Genomic Test Order's Ask At Order Entry Questionnaires model order-type-specific detail as structured, coded data. A referral's equivalent detail doesn't have that today: per Genetic Referrals 's "Genetic Counselling / Cascade Testing Referral" section and Cancer Background Information for Use Cases - Genetic Counselling Referral Across Regions , this detail is carried in an unstructured family letter - a dictated or secure-email clinical letter summarising the variant/condition, the inheritance pattern, and which relatives are thought to be at risk. Rather than inventing a structured family-history data model that doesn't exist in current practice, this model treats the letter itself as an attachment: `ServiceRequest.supportingInfo` references a `DocumentReference` , whose `content.attachment.url` points at a `Binary` holding the actual document (with a separate free-text `ServiceRequest.note` item as a fallback for a brief note sent without an attached letter). This is not a new pattern invented for this model - it is the same shape NHS e-Referral Service (eRS) already uses for referral attachments ( `ReferralRequest.supportingInfo` -> `DocumentReference` ), see Genetic Referrals - eRS FHIR Resource Model .
web	fhir.nwgenomics.nhs.uk	Questionnaire (linkId)

Type

Reference

Content

web

en.wikipedia.org

HL7 v3 Clinical Document Architecture

web

specifications.openehr.org

openEHR

web

github.com

Examples in this IG include the NHS England National Record Locator (NRL), acting as Document Registry, and the NHS England Genomics Core Broker / Unified Genomic Record (UGR), acting as Document Repository - see ctDNA NHS England Unified Genomic Record (UGR) - Phase 1 .

web

github.com

In this IG this role is always played by the Regional Integration Engine (RIE) - the same system that plays Intermediary and Resource Publisher elsewhere - see Regional Shared Care Records and ctDNA NHS England Unified Genomic Record (UGR) for worked examples.

web

github.com

web

github.com

In this IG this is the FHIR Repository populated by the Regional Integration Engine's wire-tap (see Regional Integration Engine (RIE) ) - other examples include the Genomic Data Platform, Shared Care Records and NHS England Patient Data Manager.

web

profiles.ihe.net

Recommend IHE-IUA

web

profiles.ihe.net

EURIDICE Patient Matching - IHE Patient Demographics Query for Mobile (PDQm) Mobile Patient Demographics Query [ITI-78]

web

profiles.ihe.net

EURIDICE Document Exchange - IHE Mobile access to Health Documents (MHD) Retrieve Document [ITI-68]

web

profiles.ihe.net

EURIDICE Document Exchange - IHE Mobile access to Health Documents (MHD) Find Document References [ITI-67]

web

urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f

application/pdf @ urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f

web

www.nwgenomics.nhs.uk

contact : https://www.nwgenomics.nhs.uk/contact-us

web

hl7.eu

Regional Hl7 v2 MDM_T02 The format of the report is PDF, in future for England/EU document sharing the format may change to HL7 EU Laboratory Report

web

snomed.info

77386006

web

snomed.info

255407002

web

snomed.info

721981007

web

snomed.info

721963009

web

snomed.info

734163000

web

snomed.info

371525003

web

snomed.info

422735006

web

snomed.info

371537001

web

snomed.info

419891008

web

snomed.info

4241000179101

web

snomed.info

721965002

web

snomed.info

163221000000102

web

snomed.info

927061000000101

web

snomed.info

149671000000105

web

snomed.info

820161000000108

web

snomed.info

820191000000102

web

snomed.info

824231000000100

web

snomed.info

820211000000103

web

snomed.info

823611000000107

web

snomed.info

820441000000103

web

snomed.info

820221000000109

web

snomed.info

829201000000105

web

snomed.info

820451000000100

web

snomed.info

820461000000102

web

snomed.info

820471000000109

web

snomed.info

823631000000104

web

snomed.info

820481000000106

web

snomed.info

820491000000108

web

snomed.info

823641000000108

web

snomed.info

24681000000104

web

snomed.info

824321000000109

web

snomed.info

823651000000106

web

snomed.info

823681000000100

web

snomed.info

823691000000103

web

snomed.info

823701000000103

web

snomed.info

824331000000106

web

snomed.info

824341000000102

web

snomed.info

25611000000107

web

snomed.info

823721000000107

web

snomed.info

823761000000104

web

snomed.info

909921000000109

web

snomed.info

823781000000108

web

snomed.info

1325651000000108

web

snomed.info

820241000000102

web

snomed.info

962381000000101

web

snomed.info

1219151000000104

web

snomed.info

25831000000103

web

snomed.info

416779005

web

snomed.info

820501000000102

web

snomed.info

820511000000100

web

snomed.info

820251000000104

web

snomed.info

823831000000103

web

snomed.info

823661000000109

web

snomed.info

823841000000107

web

snomed.info

725869001

web

snomed.info

1129271000000109

web

snomed.info

1363671000000109

web

snomed.info

1198111000000109

web

snomed.info

1076911000000107

web

snomed.info

4321000179101

web

snomed.info

1054291000000102

web

snomed.info

1054281000000104

web

snomed.info

4341000179107

web

snomed.info

1054181000000105

web

snomed.info

909871000000100

web

snomed.info

1054161000000101

web

snomed.info

824781000000106

web

snomed.info

824791000000108

web

snomed.info

820271000000108

web

snomed.info

1099461000000101

web

snomed.info

1325821000000102

web

snomed.info

185361000000102

web

snomed.info

826501000000100

web

snomed.info

824801000000107

web

snomed.info

24761000000103

web

snomed.info

823871000000101

web

snomed.info

229054004

web

snomed.info

824831000000101

web

snomed.info

307930005

web

snomed.info

826511000000103

web

snomed.info

820291000000107

web

snomed.info

826621000000105

web

snomed.info

826631000000107

web

snomed.info

826521000000109

web

snomed.info

308575004

web

snomed.info

310854009

web

snomed.info

308619006

web

snomed.info

270372007

web

snomed.info

270370004

web

snomed.info

307881004

web

snomed.info

270358003

web

snomed.info

308621001

web

snomed.info

820301000000106

web

snomed.info

823951000000100

web

snomed.info

826541000000102

web

snomed.info

826651000000100

web

snomed.info

408403008

web

snomed.info

823881000000104

web

snomed.info

827701000000106

web

snomed.info

772790007

web

snomed.info

822761000000108

web

snomed.info

1054091000000108

web

snomed.info

1054071000000109

web

snomed.info

827711000000108

web

snomed.info

822771000000101

web

snomed.info

822781000000104

web

snomed.info

822801000000103

web

snomed.info

822791000000102

web

snomed.info

827721000000102

web

snomed.info

822811000000101

web

snomed.info

824861000000106

web

snomed.info

371527006

web

snomed.info

822821000000107

web

snomed.info

822831000000109

web

snomed.info

823891000000102

web

snomed.info

962401000000101

web

snomed.info

4271000179106

web

snomed.info

983701000000101

web

snomed.info

725870000

web

snomed.info

725956001

web

snomed.info

770573007

web

snomed.info

770574001

web

snomed.info

770572002

web

snomed.info

770575000

web

snomed.info

782660000

web

snomed.info

782659005

web

snomed.info

1129261000000102

web

snomed.info

1129251000000100

web

snomed.info

1129241000000103

web

snomed.info

1129231000000107

web

snomed.info

4201000179104

web

snomed.info

1219161000000101

web

snomed.info

149691000000109

web

snomed.info

229059009

web

snomed.info

823901000000101

web

snomed.info

823931000000107

web

snomed.info

823941000000103

web

snomed.info

1186936003

web

snomed.info

119297000

web

snomed.info

119373006

web

snomed.info

309201001

web

snomed.info

258580003

web

snomed.info

122552005

web

snomed.info

122556008

web

snomed.info

737357006

web

snomed.info

122555007

web

snomed.info

440500007

web

snomed.info

119359002

web

snomed.info

733104004

web

snomed.info

258450006

web

snomed.info

258565009

web

snomed.info

702451000

web

snomed.info

309147000

web

snomed.info

258566005

web

snomed.info

441652008

web

snomed.info

1003517007

web

snomed.info

122571007

web

snomed.info

418564007

web

snomed.info

119342007

web

snomed.info

441479001

web

snomed.info

122575003

web

snomed.info

441673008

web

snomed.info

SNOMED CT: 119297000 (Blood specimen)

web

snomed.info

SNOMED CT: 363349007 (Malignant tumour of stomach)

web

snomed.info

SNOMED CT: 258580003 (Whole blood specimen)

web

snomed.info

SNOMED CT: 64033007 (Kidney structure)

web

www.datadictionary.nhs.uk

General Medical Council Consultant Code. For more details see: NHS Data Model Dictionary

web

www.datadictionary.nhs.uk

General Practitioner (GMP) number. For more details see: NHS Data Model Dictionary

web

www.datadictionary.nhs.uk

NHS Number allocated to the patient in England and Wales. For more details see: NHS Data Model Dictionary

web

www.nw-gmsa.nhs.uk

web

www.nwgenomics.nhs.uk

IG © 2024+ NHS North West Genomics . Package fhir.nwgenomics.nhs.uk#2.2.5 based on FHIR 4.0.1 . Generated 2026-11-05
Links: Table of Contents | QA Report | New Issue | Issues

web

github.com

Links: Table of Contents | QA Report | New Issue | Issues

web

github.com

Links: Table of Contents | QA Report | New Issue | Issues

web

digital.nhs.uk

Manages the Order. This is the function of Genomic Order Management Service and/or GLH LIMS

web

www.en13606.org

From ISO-13606 The set of information committed to one EHR as a result of a clinical encounter or a record documentation session. Examples of COMPOSITION are Progress note, Laboratory test result form, Radiology report, Referral letter, Clinic visit, Clinic letter, Discharge summary, Functional health assessment, Diabetes review.

web

urn:uuid:4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4

application/pdf @ urn:uuid:4b8a115b-cd0a-487b-ac8e-5b9e4f4f78d4

web

euridice.org

Is based on EURIDICE Health Data API , which we are using as FHIR R4 version of Care Connect API

web

nhsconnect.github.io

Is based on EURIDICE Health Data API , which we are using as FHIR R4 version of Care Connect API

web

editor.swagger.io

The OpenAPISwagger Definition file below, can be viewed using Swagger Editor

web

github.com

Local OBX-3 sub-identifier codes used by the Clatterbridge chimerism testing payload - see Histocompatibility and Immunogenetics - Chimerism Testing Result Panel (Future?) .

web

www.england.nhs.uk

Source: National genomic test directories - Rare & Inherited Disease v9 and Cancer (non-CNS) v16 checked/refreshed on 2026-09-08.

web

www.england.nhs.uk

Test Outcome Code from NHS England Genomics Test Reporting Specification

web

github.com

Local order-detail codes from Histotrac , the Histocompatibility and Immunogenetics LIMS - see Histocompatibility and Immunogenetics , HLA Tests - Transplant Ask At Order Entry and Chimerism Test Additional Ask At Order Entry Questions .

web

github.com

Sourced as HL7 v2 CE (coded element)-style code^text^codingSystem strings from the HISTOTRACEAP coding system - see each concept's worked example ( HLA Tests - Transplant , Chimerism Testing ). These are distinct from the local NWGMSA answer options (e.g. HLAAntibodyScreening , ChimerismPeripheralBlood ) used on the Ask At Order Entry Questionnaires' own order-entry choice items - those model the order-entry UI selection, these are what Histotrac itself calls the resulting order.

web

github.com

web

github.com

iGene's five variant-type categories, each with its own repeating set of custom fields in iGene's "Variant Level Data" spec ( SEQV1 - SEQV10 , ICNV1 - ICNV3 , MCNV1 - MCNV3 , SV1 - SV3 , LOH1 - LOH2 ) - see OMICS DSS Result Integration for the decision this codifies: making "which iGene slot type is this" an explicit, coded Variant.component:variant-category value instead of an inferred classification.

web

github.com

Built against the Genomics England terminology server (https://re-docs.genomicsengland.co.uk/terminology_server/, https://ontoserver.aws.gel.ac/fhir ), HPO release 20191108 . That server only publishes a SNOMED CT to HPO ConceptMap ( sct-to-hpo ) by name, but does support querying it in the HPO-to-SNOMED direction directly via ConceptMap/sct-to-hpo/$translate?...&reverse=true - see nw-gmsa/Testing notebook 13 , which uses the same server and surfaced this parameter. An initial pass of this ConceptMap missed that: it instead found a candidate SNOMED CT concept for each HPO term ( ValueSet/$expand free-text search under the Clinical finding ( 404684003 ) subtree) and forward-verified it through ConceptMap/sct-to-hpo/$translate in the SNOMED-to-HPO direction - which undercounted, since a genuinely-mapped HPO term can have a mapped SNOMED code that isn't the one a text search happens to surface (e.g. Cataract is mapped, to SNOMED 128306009 , not the 193570009 a plain text search returns first). This version instead queries reverse=true directly for every HPO code, with the equivalence value taken directly from that server response ( equivalent in every case found).

web

github.com

Built by nw-gmsa/Testing notebook 14 , checked against v1.1/v2 on 2026-09-08.

web

github.com

Built by nw-gmsa/Testing notebook 14 , checked against v9/v16 on 2026-09-08.

web

www.enterpriseintegrationpatterns.com

Built on InterSystems Health Connect. This is the messaging layer: it supports workflows between NHS Organisations (Trust EPR to NW Genomics and back), and internal process-to-process workflows between LIMS (e.g. iGene to StarLIMS Work Orders). Its design style follows Enterprise Integration Patterns

web

github.com

message routing, transformation and a canonical data model, described in detail in Overview - Regional Integration Engine (RIE) and Architecture - Enterprise Integration Patterns (EIP) . The workflows it supports are documented as business processes in Analysis and Design (Volume 1) - e.g. Laboratory Testing Workflow (LTW) , Inter-Laboratory Workflow (ILW) - and as the technical interactions themselves in Interfaces (Volume 2) .

web

github.com

see Enterprise Integration - but the two aren't doing the same job. The RIE carries more integration-engine features than a typical Trust-local TIE: routing (to the correct destination Trust or LIMS), enrichment (PDS/ODT lookups adding patient/organisation detail a source message didn't include), terminology mapping (using a Terminology Service to translate a code from one destination's coding system to another, rather than each destination having to understand every source system's own local codes), and orchestration of the multi-step validate/enrich/convert/route sequence described above. In exchange, it does less HL7 v2 flavour-to-flavour transformation than a TIE: rather than every source/destination pair negotiating its own bespoke mapping, the RIE only ever deals in a single canonical NW Standard format - the flavour-specific conversion each Trust's or lab's own local system actually needs happens at the edges, in that Trust's or lab's own TIE, before the message ever reaches the RIE. See Order Process for exactly where that boundary sits.

web

kafka.apache.org

Message-Oriented Middleware (MOM) - like Apache Kafka , RabbitMQ or AWS SQS, the RIE decouples producers and consumers and moves data asynchronously, so a LIMS sending a report doesn't need to know or wait on which Trusts will receive it. Unlike a general-purpose broker, though, the RIE isn't a neutral pipe with topics/queues any consumer can subscribe to - the transformation and routing logic (which destination, in what HL7 flavour) is built into the RIE itself as configured integration production rules, not left to consumer-side code.

web

www.rabbitmq.com

web

airflow.apache.org

Workflow Orchestration Tools - like Apache Airflow , Prefect or Dagster , the RIE coordinates a sequence of dependent steps for each message (validate, enrich via a PDS/ODT lookup, convert, route) and handles retries/error routing when a step fails. The difference is scope and cadence: these tools schedule and orchestrate batch ETL/ELT DAGs over datasets on a timer; the RIE orchestrates a workflow per individual message, in near real time, as each order or report arrives.

web

www.prefect.io

web

dagster.io

web

github.com

Built on the InterSystems FHIR Repository. This is an operational data platform , not a messaging engine: it is populated by wire-tapping the messages and data flows already passing through the RIE, rather than being sent to directly. Its design style is different from the RIE's messaging patterns - it follows aggregates from Domain Driven Design , the operational-data-platform pattern (query the current state of an entity, not just the event stream that produced it), and domain archetypes from Data Mesh - see Architecture for how the domain split works. Its interactions are FHIR RESTful ( GET / search / batch / transaction , per notebook 07 below) - it also supports SQL, via InterSystems' own SQL projection over the stored FHIR resources, for analysts and reporting tools that don't speak FHIR natively.

web

martinfowler.com

web

en.wikipedia.org

web

github.com

web

github.com

The same build-up-then-read-back pattern applies across a whole multi-system journey, not just within the RIE. Reportable Variants - The end-to-end clinical journey is a concrete example: each step's output is written into the FHIR Repository as part of the same Order/Report aggregate, and a later step reads that aggregate back as its input , rather than every system having to talk to every other system directly. The dotted line is proposed, not yet implemented - see Future Process .

web

github.com

web

hpo.jax.org

in particular, converting a SNOMED CT clinical finding into a Human Phenotype Ontology (HPO) term via ConceptMap/sct-to-hpo/$translate , used to derive a GenomicClinicalIndication code from a patient's EPR problem list. Notebook 13 queries it live and is worth reading in full, since it also documents where the mapping doesn't work today: discrete findings (e.g. Ataxia, Seizure) translate reliably, but coded diagnoses (e.g. Marfan syndrome, Cystic fibrosis, Lynch syndrome) currently produce no mapping at all. The same server and sct-to-hpo map were used to hand-build this IG's own static GMSWGSGuideHPOTermsToSCT ConceptMap - see notebook 13 's own closing note on IHE Sharing Valuesets, Codes, and Maps (SVCM) for where this pattern is heading.

web

github.com

web

profiles.ihe.net

web

github.com

Worked-example Jupyter notebooks from nw-gmsa/Testing - each builds a piece of this IG's FHIR/HL7 v2 conversion by hand, in Python, against real example data. They form a series ( 01 onward assumes the reader has read the earlier ones), and most relate directly to one or more of this IG's Use Cases .

web

github.com

01 - FHIR Search Basics

web

github.com

02 - Work Orders: A Worked Example

web

github.com

Regional Integration Engine (RIE) , StarLIMS / iGene Integration , OMICS DSS Result Integration

web

github.com

Regional Integration Engine (RIE) , StarLIMS / iGene Integration , OMICS DSS Result Integration

web

github.com

Regional Integration Engine (RIE) , StarLIMS / iGene Integration , OMICS DSS Result Integration

web

github.com

03 - Orders: Building a FHIR Order Message from a CSV

web

github.com

NE&Y Management Information (ctDNA)

web

github.com

04 - Reports: HL7 v2 ORU^R01 into FHIR

web

github.com

Regional Integration Engine (RIE) , Regional Shared Care Records

web

github.com

Regional Integration Engine (RIE) , Regional Shared Care Records

web

github.com

05 - Test Results: GA4GH VCF to FHIR Genomics Reporting

web

github.com

OMICS DSS Result Integration

web

github.com

06 - EU Laboratory Report: FHIR Messages to a FHIR Document

web

github.com

ctDNA NHS England Unified Genomic Record (UGR) , NE&Y Management Information (ctDNA)

web

github.com

ctDNA NHS England Unified Genomic Record (UGR) , NE&Y Management Information (ctDNA)

web

github.com

07 - FHIR Repository: RESTful Events and Aggregates

web

github.com

Regional Integration Engine (RIE)

web

github.com

08 - Subcontracted Laboratory Order from an External GLH

web

github.com

Distributed WGS (dWGS)

web

github.com

09 - LIMS Integration with the Genomic Order Management Service

web

github.com

Regional Integration Engine (RIE) , NHS England Genomic Order Management Service (GOMS)

web

github.com

Regional Integration Engine (RIE) , NHS England Genomic Order Management Service (GOMS)

web

github.com

10 - Histocompatibility and Immunogenetics: HL7 v2 to and from the NW Standard

web

github.com

Histocompatibility and Immunogenetics , iGene Orders and Reports (Alder Hey, MFT, Liverpool)

web

github.com

Histocompatibility and Immunogenetics , iGene Orders and Reports (Alder Hey, MFT, Liverpool)

web

github.com

11 - Order Entry Forms: Questionnaire to a FHIR O21

web

github.com

12 - Haemato-Oncology Cytogenetics: From Free-Text HL7 v2 to Structured Observations

web

github.com

Extracts the karyotype/FISH findings buried in Shire-1.txt / Shire-2.txt 's free-text OBX\|FT\|CYTO lines, then builds them as the discrete, LOINC-coded Observation / DiagnosticReport shape that page's own Future genomic data model proposes - the source of that page's two structured-example Bundle s.

web

github.com

Haemato-Oncology Diagnostic Pathway

web

github.com

13 - SNOMED to HPO: Genomic Clinical Indication

web

github.com

14 - Refreshing the National Genomic Test Directory CodeSystems

web

github.com

15 - Closing the Loop: Genomic Results Back Onto the EPR Problem List

web

profiles.ihe.net

Notebook 13's terminology-server pattern (querying a remote FHIR server's $lookup / $translate operations live, rather than hand-maintaining a static map) is the same shape IHE Sharing Valuesets, Codes, and Maps (SVCM) formalises as a profile - this IG is likely to adopt an SVCM-conformant terminology service for SNOMED CT/HPO/Genomic Test Directory conversions in future, rather than continuing to hand-build ConceptMap s like GMSWGSGuideHPOTermsToSCT notebook-by-notebook.

web

www.postman.com

For a first look that doesn't need Python/Jupyter, the same requests notebooks 01 , 02 and 13 build by hand are also available as a ready-to-run Postman collection and environment, in nw-gmsa/Testing/postman :

web

github.com

web

github.com

Download both files from nw-gmsa/Testing/postman (or copy their raw GitHub URLs).

web

re-docs.genomicsengland.co.uk

The notebooks above are aimed at integration/interoperability developers - FHIR and HL7 v2 message shapes, not analysis of genomic data itself. For that audience, Genomics England publishes its own separate set of tutorials aimed at researchers and data analysts working inside the Genomics England Research Environment: Genomics England Research Environment - How-to guides . These cover cohort building (phenotype-first and genotype-first, via Participant Explorer/CloudOS), querying aggregate VCF datasets (AggV2/AggV3/somAgg), downstream analysis (association testing, variant screening, survival analysis), and desktop tooling (LabKey, Airlock, IVA) using Python, R, Jupyter notebooks and HPC workflows - a different layer of the same overall genomics ecosystem this IG's own notebooks integrate with at the message/API level.

web

github.com

Referral for genetic counselling / cascade (predictive) testing , following a variant already found or a condition already suspected - see Clinical Scenarios below and Cancer Background Information for Use Cases - Genetic Counselling Referral Across Regions .

web

www.mangen.co.uk

A GP or hospital referral direct into a regional clinical genetics service , such as Manchester Centre for Genomic Medicine or the Liverpool Centre for Genomic Medicine (LCGM) - the entry point into the same referral-out/report-back pattern, most commonly made today via NHS e-Referral Service (eRS) when the referrer is a GP.

web

www.uhliverpool.nhs.uk

web

www.ihe.net

IHE PCC Technical Framework Supplement - 360X: Closed Loop Referrals - the closed-loop referral profile this pattern is analogous to (not itself adopted here)

web

digital.nhs.uk

NHS e-Referral Service (eRS) / FHIR API - the service GPs use today to refer into secondary care, including regional clinical genetics services; the other basis for the Referral Data Model below

web

digital.nhs.uk

NHS e-Referral Service (eRS) / FHIR API - the service GPs use today to refer into secondary care, including regional clinical genetics services; the other basis for the Referral Data Model below

web

digital.nhs.uk

NHS England Booking and Referral Standard (BaRS) - FHIR API - a possible alternative to eRS; checked for referral-specific data modelling in the Mapping to NHS Booking and Referral Standard (BaRS) section below

web

github.com

HL7 v2 ORU_R01 - a possible model for the report/clinic letter back, already used elsewhere in this IG for hospital reports (see Cancer Background Information for Use Cases )

web

www.mangen.co.uk

Manchester Centre for Genomic Medicine - Clinical Services

web

www.uhliverpool.nhs.uk

Liverpool Centre for Genomic Medicine (LCGM)

web

github.com

Cancer Background Information for Use Cases - Genetic Counselling Referral Across Regions - the worked narrative example this page generalises

web

www.macmillan.org.uk

Macmillan - What is genetic counselling? - background on cascade/predictive testing

web

github.com

Consultand - a relative of the proband being counselled and/or tested as a result (e.g. for cascade/predictive testing), as distinct from the proband themselves. The same distinction is used in Distributed WGS (dWGS) 's Family Structure/Participant Type pattern.

web

github.com

This is the referral-level counterpart to the Distributed WGS (dWGS) Family Structure/Participant Type pattern: dWGS covers ordering a test for multiple family members at once, whereas this page covers the referral that decides which relatives should be offered counselling/testing in the first place, and reports back the outcome.

web

digital.nhs.uk

Current state: where the referrer is a GP practice, the referral into a regional clinical genetics service (e.g. Manchester Centre for Genomic Medicine, LCGM) is most commonly made today via NHS e-Referral Service (eRS) - the national service GPs already use to refer into secondary care generally, not a genomics-specific mechanism. eRS is being generalised into this page's scope (rather than excluded, as in an earlier version of this page) because it is, in practice, the primary route by which patients first reach these services. eRS assigns each referral a Unique Booking Reference Number (UBRN) , which the receiving service uses to identify and triage it.

web

digital.nhs.uk

eRS's FHIR API currently represents the referral as a ReferralRequest resource (STU3), profiled as eRS-ReferralRequest-1 ; a newer ServiceRequest -based (R4) endpoint is in development, on which the UBRN appears explicitly as ServiceRequest.identifier (system https://fhir.nhs.uk/Id/UBRN ), with intent = order and category coded referral (system https://fhir.nhs.uk/CodeSystem/message-category-servicerequest ) - see the FHIR Resource Model below.

web

github.com

Current state: as described in Cancer Background Information for Use Cases - Genetic Counselling Referral Across Regions , a referral between genomics/genetics services (e.g. cascade testing for a relative under a different regional service) travels as a secure NHS.net email or a dictated letter - the same generic mechanism as any inter-Trust referral, carrying no structured/coded data. When the relative lives under a different regional genetics service, this takes the form of a family letter summarising the variant, inheritance pattern and at-risk relatives.

web

github.com

Current state: the outcome of assessment, counselling and any family testing arranged is reported back as dictated hospital correspondence - the same mechanism used for any other outpatient clinic letter (see Cancer Background Information for Use Cases for the equivalent pattern on the initial GP referral).

web

digital.nhs.uk

Booking the counselling/genetics appointment itself is deliberately out of scope for this page. eRS has its own booking functionality, IHE's Closed Loop Referral profile (360X) includes its own dedicated scheduling transactions, and NHS England's Booking and Referral Standard (BaRS) is itself primarily a booking-and-referral service for non-eRS pathways - any of these could be the natural place scheduling would live if this pattern were ever built out, but none is analysed further here.

web

digital.nhs.uk

The diagram below sketches how eRS's own FHIR API relates the resources involved in a referral, taken from the worked examples published in eRS's FHIR API catalogue . It uses the current (STU3) ReferralRequest resource name; the same shape applies to the newer ServiceRequest -based (R4) endpoint once it is generally available.

web

digital.nhs.uk

NHS Booking and Referral Standard (BaRS) is NHS England's other FHIR-based referral mechanism, intended as a general-purpose alternative to eRS for non-GP referral pathways. Checking its published CapabilityStatement and MessageDefinition resources directly: BaRS defines no referral-specific data model of its own - there is no BaRS equivalent of eRS's UBRN, ReferralPriority , ReferralState or Shortlist extensions, and no referral-specific identifier system was found anywhere in its published API documentation.

web

github.com

The NHS England FHIR Genomics Implementation Guide - Clinical Scenarios page may contain further scenarios relevant to all three - not reviewed in detail here. The worked example already in this IG is Cancer Background Information for Use Cases - Genetic Counselling Referral Across Regions , covering scenario 1 (a confirmed Lynch syndrome variant, with relatives under different regional genetics services referred for cascade testing).

web

hl7.eu

Follow API Contracts from EURIDICE EU Health Data API and Data Contracts from EHDS in particular:

web

hl7.eu

HL7 Europe Laboratory Report

web

future.nhs.uk

This specification adds England-specific data modeling from NHS England Canonical Data Model ( NHS Futures - Canonical Data Model (CDM) ). This specification also conforms to HL7 UK Core.

web

hl7.eu

Process flows and background information are the same as EU Health Data API and so are not repeated here.

web

drive.google.com

Feeds patient identity data into the Patient Identity Registry (PIX Patient Identity Feed ITI-8, or the mobile equivalent PIXm ITI-93). The NHS England HL7 v2 standard for this feed is the NHS England HL7 v2 ADT Message Specification .

web

digital.nhs.uk

Queries the Patient Identity Registry for patient demographics (PDQm Mobile Patient Demographics Query ITI-78). This is roughly equivalent to the NHS Personal Demographics Service - FHIR API .

web

github.com

Regional Integration Engine (RIE) - including the wire-tap to Regional Shared Care Records (Greater Manchester Care Record (GMCR) and Lancashire and South Cumbria)

web

github.com

Regional Integration Engine (RIE) - including the wire-tap to Regional Shared Care Records (Greater Manchester Care Record (GMCR) and Lancashire and South Cumbria)

web

github.com

ctDNA NHS England Unified Genomic Record (UGR) - Phase 1 ( DiagnosticReport + PDF)

web

hl7.eu

ITI-105 Simplified Publish (HL7 FHIR)

web

wiki.ihe.net

Using an HL7 Europe Laboratory Report FHIR Document to share laboratory reports is a modernisation of IHE Sharing Laboratory Reports (XD-LAB) , replacing HL7 Clinical Document Architecture (CDA) with an HL7 FHIR Document.

web

github.com

NHS England Genomic Order Management Service (GOMS) - the RIE retrieves Laboratory Orders exposed by GOMS this way

web

github.com

StarLIMS / iGene Integration

web

architectelevator.com

A note on "top down". In summary, this approach is top down - but not in the usual sense of management or central NHS organisations (the "penthouse") passing instructions down to the "engine rooms" actually delivering the work. The analogy is borrowed from Gregor Hohpe's Architect Elevator . Here, "top" means the practitioner - who is focused on the patient, the real top of this whole process - and "top down" means starting there and riding the elevator down through every floor in between: workflow, information requirements, data model, Interoperability Data Model, and only then implementation. Skipping floors - whether that's the penthouse handing instructions straight to the engine room, or a developer being handed a technical instruction with none of the floors in between - is exactly the trap explored in Examples of Common Interoperability Project Problems below.

web

ckm.openehr.org

openEHR archetypes - a mature, clinically-led modelling approach with its own large public library ( openEHR Clinical Knowledge Manager ). See Laboratory Analyte Result in this IG, which is built directly against the openEHR Laboratory analyte result archetype.

web

ckm.openehr.org

web

github.com

LOINC panels - for laboratory/genomics results specifically, a defined LOINC panel (a fixed set of LOINC-coded observations) can itself act as the data model for a result, since it already specifies the discrete elements a result needs. See the LRI Discrete Variant Panel used in OMICS DSS Result Integration and the LOINC cytogenetics panel table in Haemato-Oncology Diagnostic Pathway .

web

github.com

web

wiki.ihe.net

IHE Inter Laboratory Workflow

web

www.ihe.net

IHE Laboratory Technical Framework Supplement Inter-Laboratory Workflow (ILW)

web

github.com

Pathology to Genomics Reflex

web

github.com

Regional Integration Engine (RIE)

web

github.com

See NHS England Genomic Order Management Service (GOMS) for the future use of the GOMS FHIR API to deliver sub-contracted orders (LAB-35) to, and receive results (LAB-36) from, other GMSAs.

web

digital.nhs.uk

See NHS England Genomic Order Management Service (GOMS) for the future use of the GOMS FHIR API to deliver sub-contracted orders (LAB-35) to, and receive results (LAB-36) from, other GMSAs.

web

github.com

See Haemato-Oncology Diagnostic Pathway for the CFT Shire → HODS-orchestrated reflex use case (pathology test order following on to a genomics test order, and the HODS-orchestrated haematological malignancy pathway), including the NHS North West Children Cancer notification example.

web

hl7.eu

EURIDICE EU Health Data API - Authorization

web

profiles.ihe.net

IHE Internet User Authorization (IUA)

web

www.ihe.net

IHE Pathology and Laboratory Medicine (PaLM) Technical Framework - Volume 1 HL7 v2

web

digital.nhs.uk

Initially only the IHE LAB-1 and LAB-3 are in focus. Later stages will include the use of Genomic Order Management Service .

web

github.com

Histocompatibility and Immunogenetics

web

github.com

Cancer Background Information for Use Cases

web

github.com

NE&Y Management Information (ctDNA) - paper-based, no electronic LAB-1 transaction

web

mft.nhs.uk

Within the system creating the genomics order, the practitioner will select a form for the test required. Below are several examples from North West Genomic Laboratory Hub - Test Request Forms . How this is implemented will vary between different NHS organisations and systems they use.

web

en.wikipedia.org

For submission, this form will be converted by the Order Placer to a communication format called HL7 FHIR (and for compatability reasons HL7 v2 . If the Order Placer has a FHIR enabled Electronic Patient Record (e.g. EPIC, Cerner, Meditech, etc), they may use HL7 SDC - Form Data Extraction to assist with this process.

web

github.com

Regional Integration Engine (RIE) - including the wire-tap to Regional Shared Care Records (Greater Manchester Care Record (GMCR) and Lancashire and South Cumbria), and the NHS England Unified Genomic Record

web

github.com

web

github.com

NE&Y Management Information (ctDNA) - wire-tapped, converted to a FHIR Message R01 with the PDF removed

web

github.com

NE&Y Management Information (ctDNA) - the FHIR Message O21 converted daily from the iGene CSV export

web

github.com

BCR-ABL Monitoring (Cepheid ASTM to iGene)

web

drive.google.com

Note: Event trigger definitions based on NHS England HL7 v2 ADT Message Specification which is NHS England's supplement to IHE Technical Framework Volume2: Patient Identity Management [ITI-30] and Patient Encounter Management [ITI-31] .

web

profiles.ihe.net

web

profiles.ihe.net

web

profiles.ihe.net

IHE Patient Administration Management (PAM) //HL7 v2 ADT Patient Encounter Management (A02, A08, and A12)

(Denmark) HL7 FHIR version DK MedCom HospitalNotification

web

medcomfhir.dk

(Denmark) HL7 FHIR version DK MedCom HospitalNotification

web

hl7.eu

EURIDICE EU Health Data API - Document Exchange

web

profiles.ihe.net

IHE Mobile access to Health Documents [MHD]

web

nhsconnect.github.io

INTEROPen/NHS England Care Connect API updated to FHIR R4.

web

profiles.ihe.net

Retrieve Document [ITI-68]

web

profiles.ihe.net

Find Document References [ITI-67]

web

digital.nhs.uk

Message Exchange for Social Care and Health (MESH) API

web

drive.google.com

NHS England HL7 v2 ADT Message Specification .

web

www.ihe.net

IHE Pathology and Laboratory Medicine (PaLM) Technical Framework - Volume 2a (PaLM TF-2a) Transactions

web

www.enterpriseintegrationpatterns.com

Document Message

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www.ihe.net

IHE PCC 360X Closed Loop Referral PCC TF-2 3.55

web

kevinmayfield.github.io

Care Coordination and 360 Referrals (proof of concept) - Referral Request [PCC-55] - the general (non-genomic) version of this page

web

digital.nhs.uk

NHS England Multicast Notification Service - Genomic Order Event

web

digital.nhs.uk

eRS FHIR API , BaRS FHIR API

web

digital.nhs.uk

eRS FHIR API , BaRS FHIR API

web

www.ihe.net

IHE PaLM Laboratory Testing Workflow (LTW) Placer Order Management [LAB-1] - see Laboratory Order (LAB-1)

web

www.ihe.net

IHE Inter-Laboratory Workflow (ILW) Sub-order Management [LAB-35] - see Sub Order Management (LAB-35)

web

www.ihe.net

IHE RAD Scheduled Workflow Placer Order Management [RAD-2]

web

www.ihe.net

IHE PCC 360X Closed Loop Referral PCC TF-2 3.56

web

kevinmayfield.github.io

Care Coordination and 360 Referrals (proof of concept) - Referral Decline [PCC-56]

web

www.ihe.net

IHE PaLM Laboratory Testing Workflow (LTW) Placer Order Management [LAB-1] - order cancelled by the Order Filler; see Laboratory Order (LAB-1)

web

www.ihe.net

IHE RAD Scheduled Workflow Filler Order Management [RAD-3] - order cancelled by the Order Filler

web

www.ihe.net

IHE PCC 360X Closed Loop Referral PCC TF-2 3.57

web

kevinmayfield.github.io

Care Coordination and 360 Referrals (proof of concept) - Referral Outcome [PCC-57]

web

www.ihe.net

IHE PaLM Laboratory Testing Workflow (LTW) Order Results Management [LAB-3] - see Laboratory Report (LAB-3)

web

www.ihe.net

IHE Inter-Laboratory Workflow (ILW) Sub-order Results Delivery [LAB-36] - see Sub-order Results Delivery (LAB-36)

web

www.ihe.net

IHE RAD Results Distribution (RD) Send Imaging Result [RAD-128]

web

hl7.eu

EURIDICE EU Health Data API - Patient Matching

web

profiles.ihe.net

IHE Mobile Patient Demographics Query [ITI-78]

web

hl7.eu

EURIDICE EU Health Data API - Resource Access

web

fhir.interweavedigital.com

This Encounter represents the overall episode or stay, for further information see Interweave Encounter Grouping

web

hl7.me

NLM Forms Library

web

github.com

Result panel for BCR-ABL1 monitoring (chronic myeloid leukaemia), capturing a Cepheid-class ASTM-communicating analyser's result as a Laboratory Analyte Result Observation - see BCR-ABL Monitoring .

web

hl7.me

NLM Forms Library

web

mft.nhs.uk

Source form: CYP2C19 R454 Mavacamten Test Request Form, DOC6602 (PDF)

web

hl7.me

NLM Forms Library

web

github.com

These two fields most directly relate to the Pathology to Genomics Reflex reflex use case, where a genomic order follows on from a prior pathology order/report ( LAB-1 / LAB-3 ) rather than starting the clinical episode itself - that page's own Current Process still models the pathology-to-genomics handoff entirely as HL7 v2/FHIR messaging ( LAB-1 / LAB-35 / LAB-3 / LAB-36 ), which is why today's answer is free text rather than a machine-resolvable reference. A query-based alternative may remove the need to duplicate pathology content into the genomic order/message at all: some NW pathology LIMS deployments (e.g. Medicus) already support the Australian AU eReq FHIR IG for on-demand query access to pathology orders (and potentially reports), and MFT separately exposes pathology data through Epic's own FHIR Query API . If a genomics laboratory can query pathology directly, these two free-text fields could be replaced by a reference instead - the Pathology Order Filler Number, Pathology Patient Identifier and/or Pathology Specimen Identifier - letting the genomic order carry a pointer for on-demand lookup rather than the pathology detail itself.

web

github.com

web

fhir.epic.com

web

hl7.me

NLM Forms Library

web

github.com

Result panel for STR-based chimerism testing (Clatterbridge post-transplant monitoring) - see Histocompatibility and Immunogenetics - Chimerism Testing Result Panel (Future?) for the source data table this Questionnaire structures.

web

hl7.me

NLM Forms Library

web

github.com

Test Specific Additional Ask At Order Entry Questions used alongside the common core order form for the "Chimerism Testing Blood (PB)" order screen within Histocompatibility and Immunogenetics orders (SNOMED CT 909871000000100 ) - the same "Test Specific" tier pattern WGS Test Additional Ask At Order Entry Questions follows for WGS orders - see Order Entry Questions and Histocompatibility and Immunogenetics . For the sibling HLA testing order screen, see HLA Tests - Transplant Ask At Order Entry .

web

github.com

Extracted from the NTE segments of a live Histotrac ORM^O01 order for a Chimerism Testing (Performable) test - see the worked example for the full message. The original order carried two NTE segments (Specimen Source, then Patient Test(s)); only Specimen Source is asked here - Specimen Identifier (a speculative future SPM-2 addition) and Patient Test(s) have both since been dropped as Ask At Order Entry questions. See also Chimerism Testing Result Panel for the (separate) structured result payload this order eventually produces.

web

github.com

Specimen Source is now the only Ask At Order Entry question this Questionnaire asks - Specimen Identifier (a speculative future SPM-2 addition) and Patient Test(s) have both since been dropped. See Chimerism Testing Ask At Order Entry for the worked example this Questionnaire was extracted from (including the OML_O21 version showing SPM in place of the original order's free-text NTE segments), and the item's own design/reference notes below for the reasoning behind its coding. Specimen Source is coded against SNOMED CT (the Specimen Type value set's own generic codes).

web

hl7.me

NLM Forms Library

web

mft.nhs.uk

Source form: GP Form: Cystic Fibrosis carrier test request, DOC4356 (DOCX)

web

hl7.me

NLM Forms Library

web

mft.nhs.uk

Source form: Deafness Testing Proforma - R67 Non-Syndromic Hearing Loss (PDF)

web

hl7.me

NLM Forms Library

web

mft.nhs.uk

Source form: GMS WGS Test Request Form - Cancer, V1.22 July 2024 (PDF)

web

hl7.me

NLM Forms Library

web

mft.nhs.uk

Source form: GMS WGS Test Request Form - Rare Disease, V2.0 April 2026 (PDF)

web

hl7.me

NLM Forms Library

web

hl7.me

NLM Forms Library

web

hl7.me

NLM Forms Library

web

github.com

G Number (Pedigree Number) is only applicable to Rare and Inherited Disease WGS orders - see Whole Genome Sequencing (WGS) - The Reverse Direction for how it relates to (and is distinct from) a genuine Order Group Number ( ServiceRequest.requisition ). See WGS Test Additional Ask At Order Entry Questions for Related Individual and the Consultand/Proband/mother-baby-fetus guidance that goes with it, now that both have moved there.

web

github.com

A real NHS Trust EPR order-entry screen for Rare and Inherited Disease WGS orders surfaces several fields with no equivalent anywhere in this Questionnaire, WGS Test Additional Ask At Order Entry Questions or Genomic Test Order - consistent with, and extending, the same gap analysis in Whole Genome Sequencing (WGS) :

web

github.com

Family/test structure (Singleton/Duo/Trio/Tumour/Germline) - a required field selecting which WGS family structure or sample type the order is for. This Questionnaire has no equivalent; Distributed WGS (dWGS) is the only place in this IG with a comparable concept ( FamilyStructure / ParticipantType on dWGSAskAtOrderEntry ), and that is a different Questionnaire for a different pathway.

web

hl7.me

NLM Forms Library

web

hl7.me

NLM Forms Library

web

hl7.me

NLM Forms Library

web

github.com

Ask At Order Entry Questions used alongside the common core order form for the "HLA Tests - Transplant" order screen within Histocompatibility and Immunogenetics orders (SNOMED CT 909871000000100 ) - see Order Entry Questions and Histocompatibility and Immunogenetics . For the sibling Chimerism testing order screen, see Chimerism Test Additional Ask At Order Entry Questions .

web

github.com

Extracted from the NTE segments (each carrying HL7 v2 Table 0105-style comment type OSQ ) of a live Histotrac ORM^O01 order - see the worked example for the full message. Each NTE-3 value uses a local Label:->Value convention (e.g. HLA Type:->Patient ), split below into a question/answer pair.

web

standards.nhs.uk

Research summary (no NHS England-published order-comms/interoperability standard was found for these fields) : NHS England's published pathology standards ( Pathology Test and Results Standard , SNOMED CT for pathology reporting ) do not cover Histocompatibility and Immunogenetics (H&I) order entry specifically. The relevant national body is NHS Blood and Transplant (NHSBT) , not NHS England: its INF136 "User Guide for Histocompatibility and Immunogenetics Diagnostics Services" defines six national H&I request forms (Table 2) including FRM1008 "H&I Organ Transplant (Patients and Donors)" and FRM1010 "H&I Haematopoietic Stem Cell Transplantation (Recipients & Donors)", plus a sample-requirements table listing "HLA type of patient, donors or family members " for Solid Organ Transplantation - confirming HLA Type is a fixed national list, not free text, even though NHSBT does not publish a FHIR/LOINC/SNOMED binding for it. NHSBT's Solid Organ Transplantation section (4.5.1) also describes 24-hour on-call cover for " renal and, where appropriate, cardiothoracic transplantation", with liver/other transplant types noted separately as not having HLA match as a primary factor - consistent with Patient Type being a small, fixed list. The professional bodies BSHI (British Society for Histocompatibility and Immunogenetics) and BTS (British Transplantation Society) jointly publish clinical guidelines (e.g. the 2015 BTS/BSHI antibody characterisation guideline ) but not data/interoperability standards. This IG's own dependency, HL7's Genomics Reporting IG - Histocompatibility and Immunogenetic Reporting , profiles structured HLA genotype/haplotype results (LOINC 84413-4 Genotype display name, 48018-6 Gene studied, 13298-5 HLA-A [Type], the GL String and HGNC systems) but does not address order-entry "ask at order" questions like these. See each item below for LOINC panels and UK code lists relevant to that specific question.

web

digital.nhs.uk

web

nhsbtdbe.blob.core.windows.net

web

bts.org.uk

web

github.com

HLA Type and Patient Type are carried as Observation s referenced from ServiceRequest.supportingInfo ; Patient Test(s) maps directly to ServiceRequest.orderDetail ; Organ maps to Specimen.collection.bodySite , the body site the specimen was collected from - see Ask At Order Entry Questions for the worked example this Questionnaire was extracted from, and each item's own design/reference notes below for the coding behind each answer option. Patient Test(s) is coded against Histotrac , Specimen Source's Blood/Buccal and Organ's Kidney/Pancreas/Islets are coded against SNOMED CT, and the rest (HLA Type, Patient Type, Specimen Source's Other, and Organ's two "Simultaneous…" combination values) remain coded locally against the NWGMSA CodeSystem, since no national coded binding exists for them.

web

hl7.me

NLM Forms Library

web

mft.nhs.uk

Source form: HRD and Tumour BRCA Test Request Form (PDF)

web

hl7.me

NLM Forms Library

web

nhsbtdbe.blob.core.windows.net

Ask At Order Entry Questions for NHS Blood and Transplant's (NHSBT) national H&I Haematopoietic Stem Cell Transplantation (Recipients & Donors) request form ( FRM1010 , form "3C" in NHSBT's own numbering) - see NHSBT's published form and Histocompatibility and Immunogenetics .

web

github.com

web

hl7.me

NLM Forms Library

web

mft.nhs.uk

Source form: Molecular Genomic Testing Request Form - Haemato-Oncology (DOCX)

web

hl7.me

NLM Forms Library

web

mft.nhs.uk

Source form: Request for Genetic Testing for Haemoglobinopathies, DOC4544 (PDF)

web

hl7.me

NLM Forms Library

web

mft.nhs.uk

Source form: Request for Prenatal Diagnosis of Haemoglobinopathies, DOC4544 (PDF)

web

hl7.me

NLM Forms Library

web

nhsbtdbe.blob.core.windows.net

Ask At Order Entry Questions for NHS Blood and Transplant's (NHSBT) national H&I Organ Transplant (Patients and Donors) request form ( FRM1008 , form "3B" in NHSBT's own numbering) - see NHSBT's published form and Histocompatibility and Immunogenetics .

web

github.com

web

hl7.me

NLM Forms Library

web

mft.nhs.uk

Source form: Genomic Testing Request Form - Rare Disease, DOC4900 (DOCX)

web

hl7.me

NLM Forms Library

web

github.com

Result panel for a Variant (Reportable Variant) Observation , structured around the HL7 v2 Lab Results Interface (LRI) 's own Discrete Variant Panel (LOINC 81250-3 , LRI Chapter 5 Table 5-2, plus the Structural Variant Addenda in Table 5-3) - the same panel the NTHL1 and CFTR examples are based on. LRI already defines this as a single panel covering both simple and structural variants; this Questionnaire follows that same single-panel structure rather than iGene's separate per-variant-type field sets, mapping each item to both its LRI OBX row and its corresponding component in the HL7 Genomics Reporting IG's Variant profile. See OMICS DSS Result Integration for the full LRI/FHIR/iGene three-way mapping table.

web

github.com

item.definition / item.code are cross-checked against this IG's current Variant examples: Variant - NTHL1 and Variant - CFTR (both based on LRI examples), Observation-EGFR-Variant-ctDNA , Observation-BRCA1 , and the four Variant Observations (a small variant, an intragenic CNV, a multi-gene CNV and a structural variant) in Bundle-ctdna9737383222-testresults , plus iGene's own custom field spec for variants (

NotGit/iGene Custom Fields Master
Dataset - Updated 13-Aug-26.xlsx

, "Variant Level Data" sheet) - only elements genuinely populated by at least one of these is modelled, since these are the only elements needed for the iGene feed. See OMICS DSS Result Integration - Result Panel: Elements Not Included for the LRI/FHIR elements deliberately left out because no current example populates them.

web

hl7.me

NLM Forms Library

web

mft.nhs.uk

Source form: Genomic Variant Review Request Form, R442.1/DOC6004 (DOCX)

web

hl7.me

NLM Forms Library

web

github.com

Not to be confused with dWGS Sub-Order Manifest - that Questionnaire is the digital manifest for a distributed WGS sub-contracted order between GLHs (see dWGS ); this one is the plain paper form used for a local WGS request, and does not by itself imply any sub-contracting.

web

mft.nhs.uk

Source form: NW GLH Form to accompany samples for Whole Genome Sequencing (WGS) Tests (PDF)

web

github.com

Not to be confused with: dWGS Sub-Order Manifest - that Questionnaire is the digital manifest for a distributed WGS sub-contracted order between GLHs (see dWGS ); this one is the plain paper form used for a local WGS request. Nor with GMS WGS Rare Disease / GMS WGS Cancer - those are the national NHS Genomic Medicine Service-branded WGS request forms, not an NW GLH-specific one, and are considerably richer (mandatory HPO terms, a repeating family-member table, no equivalent of either on this form).

web

hl7.me

NLM Forms Library

web

hl7.me

NLM Forms Library

web

github.com

Ask At Order Entry Questions for a distributed WGS (dWGS) sub-contracted order (IHE LTW LAB-35 ), used alongside the common core order form - see Order Entry Questions . This Questionnaire carries only the fields from the dWGS digital manifest (NHS England

RGL to SGL
SOP

Appendix 3, plus 7 NW GMS local extension fields) that are not already asked by the common core - see dWGS Sub-Order Manifest for the full 44-field manifest description, including the fields this Questionnaire deliberately omits because the common core already asks them.

web

github.com

This Questionnaire derivedFrom /extends Genomic Test Order - see Order Entry Questions . It carries the fields from the dWGS digital manifest (NHS England

RGL to SGL
SOP

Appendix 3, plus 7 NW GMS local extension fields) that are not already asked by the common core - see dWGS Sub-Order Manifest for the full 44-field manifest description this Questionnaire was extracted from.

web

github.com

Singleton/Duo/Trio - see Singleton, Duo and Trio testing

web

github.com

Not carried over from the manifest : patient_forename , patient_surname , patient date of birth, NHS Number, patient_medical_record_number (Hospital Number), Sample Material Type (Specimen Type), and Specimen Collection Date all use the same linkId s and codes as items already in Genomic Test Order 's own Patient and Specimen groups - see the seven rows marked Genomic Test Order (base) in dWGS - Field mapping for the full list. They remain part of dWGS Sub-Order Manifest 's complete manifest description, just not repeated here.

web

hl7.me

NLM Forms Library

web

github.com

CSV manifest description , not an Ask At Order Entry Questionnaire - this Questionnaire documents the complete digital manifest for a distributed WGS (dWGS) sub-contracted order (IHE LTW LAB-35 ), sent by a Requesting Genomic Laboratory (RGL) to North West Genomics acting as Sequencing Genomic Laboratory (SGL): the 37 national digital manifest fields (NHS England RGL to SGL SOP Appendix 3) plus 7 NW GMS local extension fields, with item.definition mappings to FHIR where a confirmed mapping exists - see dWGS . It deliberately carries every manifest field, including several also asked by Genomic Test Order (Patient name/DOB/NHS number/Hospital Number, Specimen Type, Specimen Collection Date) - because it describes the full CSV structure a Requesting Genomic Laboratory actually sends, not an incremental set of order-entry questions. For the genuinely additional Ask At Order Entry content - the manifest fields not already covered by the common core - see dWGS Ask At Order Entry Questions , which derivedFrom / extends Genomic Test Order in the usual way.

web

github.com

This Questionnaire is a CSV manifest description , not an Ask At Order Entry Questionnaire - it documents the complete 44-field digital manifest (37 national fields plus 7 NW GMS local extension fields) a Requesting Genomic Laboratory sends for a distributed WGS (dWGS) sub-contracted order, including several fields also asked by Genomic Test Order itself. See dWGS - Ask at Order Entry: the dWGS digital manifest for the full narrative, dWGS - Field mapping for the complete field-by-field CSV/HL7 v2/FHIR mapping, and dWGS Ask At Order Entry Questions for the genuinely additional Ask At Order Entry Questionnaire this manifest was split from.

web

github.com

web

github.com

Unlike the NW GLH Paper Test Request Forms , this Questionnaire genuinely does carry its own Patient/order-identifier fields directly (it doesn't rely on derivedFrom /extends Genomic Test Order for them) - see dWGS - Field mapping for the full 44-field table; the fields below are the identifying subset most comparable to what those other Ask At Order Entry Questionnaires' own Summary sections list:

web

hl7.me

NLM Forms Library

web

github.com

Represents the flat-file shape of NEYctDNA.csv , iGene's daily CSV export of ctDNA orders and reports copied to NE&Y Genomics for regional management information - see ctDNA Management Information (NW to NE&Y Genomics) . One row per test; a report row carries both order fields and report/result fields together, so this Questionnaire models the full row - the order-only columns populate the FHIR Message O21 Laboratory Order ( Bundle-GenomicsOrderMessage-ctDNA ), while the report/result columns ( ReportStatusDateTime , ReportIdentifier , ObservationResultStatus , ObservationDateTime , ObservationIdentifierCode , ObservationIdentifierDescription ) instead populate the separate FHIR Message R01 Laboratory Report ( Bundle-GenomicsReportMessage-ctDNA , itself based on an HL7 v2 ORU^R01 , not O21). See ctDNA Management Information - Laboratory Order O21 Mapping for the O21-only columns and Laboratory Report R01 Mapping for the report/result columns - the two markdown tables split this Questionnaire's items by which FHIR Message actually carries them, even though all items live on this one Questionnaire. Named for iGene (the common source) rather than NE&Y/ctDNA specifically, since the shape isn't NE&Y- or ctDNA-specific - it's the same LAB-2 CSV re-export pattern iGene Work Order Export documents for StarLIMS/DLIMS work orders, just with ctDNA report/result columns added.

web

github.com

web

github.com

web

github.com

Each item's linkId is the literal CSV column header, type the FHIR datatype the column's values coerce to, and definition the FHIR field the column populates once converted into the relevant FHIR Message - many of these reuse the exact same field as the equivalent item already defined on Genomic Test Order or iGene Work Order Export , since this is the same underlying order data plus report/result-specific columns those don't carry. See NEYctDNA.csv for the source file this was extracted from.

web

hl7.me

NLM Forms Library

web

github.com

Represents the flat-file shape of StarLIMSSampleData.csv , iGene's daily CSV export of work orders sub-contracted to StarLIMS (the Liverpool GLH satellite LIMS) - see StarLIMS / iGene Integration . The same export shape/pattern is reused by the OMICS DSS Result Integration use case for DLIMS work order metadata (see that page's Future Process) - one row per sub-contracted test, named for iGene (the common source) rather than StarLIMS specifically, since it isn't StarLIMS-specific.

web

github.com

web

github.com

Each item's linkId is the literal CSV column header, type the FHIR datatype the column's values coerce to, and definition the FHIR field the column populates once imported - many of these reuse the exact same field as the equivalent item already defined on Genomic Test Order , since a sub-contracted work order carries the same underlying data as any other order. See StarLIMS / iGene Integration - Work Order CSV Export from iGene for a simple description of each column plus its FHIR mapping (also reused, unchanged, by OMICS DSS Result Integration ), and StarLIMSSampleData.csv for the source file this was extracted from.

web

github.com

web

github.com

web

hl7.me

NLM Forms Library

web

kevinmayfield.github.io

This page is adapted from Pathology and Laboratory - Report Types , with the examples replaced by those in this guide.

web

hl7.eu

General rule. The patterns follow the split in the HL7 Europe Health Data API (see Health Data API ) between Document Exchange and Resource Access (see also its FHIR Documents and Resources and Resource Exchange Patterns ):

where the DiagnosticReport is at the top, the pattern applies to FHIR Messages (the ORU^R01 equivalent, see Message Exchange ) and to FHIR RESTful Resource Access ( IPA / QEDm )
where the Composition is at the top, the pattern is a FHIR Document - FHIR RESTful Document Exchange ( IHE MHD ), for example the NHS England Unified Genomic Record (UGR)

web

hl7.eu

where the DiagnosticReport is at the top, the pattern applies to FHIR Messages (the ORU^R01 equivalent, see Message Exchange ) and to FHIR RESTful Resource Access ( IPA / QEDm )
where the Composition is at the top, the pattern is a FHIR Document - FHIR RESTful Document Exchange ( IHE MHD ), for example the NHS England Unified Genomic Record (UGR)

web

hl7.eu

where the DiagnosticReport is at the top, the pattern applies to FHIR Messages (the ORU^R01 equivalent, see Message Exchange ) and to FHIR RESTful Resource Access ( IPA / QEDm )
where the Composition is at the top, the pattern is a FHIR Document - FHIR RESTful Document Exchange ( IHE MHD ), for example the NHS England Unified Genomic Record (UGR)

web

hl7.eu

where the DiagnosticReport is at the top, the pattern applies to FHIR Messages (the ORU^R01 equivalent, see Message Exchange ) and to FHIR RESTful Resource Access ( IPA / QEDm )
where the Composition is at the top, the pattern is a FHIR Document - FHIR RESTful Document Exchange ( IHE MHD ), for example the NHS England Unified Genomic Record (UGR)

web

hl7.eu

where the DiagnosticReport is at the top, the pattern applies to FHIR Messages (the ORU^R01 equivalent, see Message Exchange ) and to FHIR RESTful Resource Access ( IPA / QEDm )
where the Composition is at the top, the pattern is a FHIR Document - FHIR RESTful Document Exchange ( IHE MHD ), for example the NHS England Unified Genomic Record (UGR)

web

kevinmayfield.github.io

Pathology and Laboratory - Report Types (source of this page)

web

hl7.eu

HL7 Europe Health Data API (1.0.0-ballot) - Document Exchange , Resource Access , FHIR Documents and Resources

web

hl7.eu

HL7 Europe Health Data API (1.0.0-ballot) - Document Exchange , Resource Access , FHIR Documents and Resources

web

hl7.eu

HL7 Europe Health Data API (1.0.0-ballot) - Document Exchange , Resource Access , FHIR Documents and Resources

web

hl7.eu

HL7 Europe Health Data API (1.0.0-ballot) - Document Exchange , Resource Access , FHIR Documents and Resources

web

hl7.eu

HL7 Europe Laboratory Report - Composition

web

www.rcpath.org

Royal College of Pathologists - Cancer datasets and tissue pathways

web

www.ihe.net

IHE PaLM Technical Framework Supplement - Specimen Event Tracking (SET) - a specification for tracking specimen progress along this process (not adopted here - background/reference only)

web

www.gs1uk.org

GS1 UK Healthcare - UK barcode standards that can be used with this process/workflow (not mandated here - background/reference only)

web

www.ihe.net

IHE Specimen Event Tracking (SET) is a specification for tracking the progress of specimens along this process, from collection through to storage, biobanking or disposal. It defines a Specimen Event Informer (SEI) actor, which sends specimen lifecycle event messages ( LAB-40 ) to a Specimen Event Tracker (SET) actor - covering around 15 distinct event types across collecting, shipping, receiving and accepting a specimen. This would be the natural specification to formalise the manual steps above, were this process ever automated - not adopted here.

web

www.gs1uk.org

GS1 UK Healthcare publishes UK barcode standards (typically carried in a GS1 DataMatrix or GS1-128 symbol) that could be used to encode the key identifiers above on the test request paperwork or shipping package, so they can be scanned rather than re-keyed - not mandated here. GS1 identifies people, places and things using a small number of standard identification keys, each with its own numeric Application Identifier (AI, shown in brackets) inside the barcode:

web

www.gs1uk.org

Printed on a GS1-compliant patient wristband under the NHS Scan4Safety programme; the NHS Number itself is the local reference the GSRN resolves to, not encoded directly

web

ref.gs1.org

GS1's GDTI AI (253) (Global Document Type Identifier) could identify the test request document itself, but is not commonly used for this in UK pathology; more often carried as free text/local barcode alongside the GS1 keys above

web

www.gs1uk.org

GS1 UK's own pathology guidance recommends a GIAI per specimen carrier (tube, slide, etc.), assigned when the specimen is taken or the carrier manufactured, and unchanged as it passes between laboratories

web

nema.org

DICOM Tag Mapping

web

en.wikipedia.org

Both Bundle.link and Bundle.entry.link are defined to support providing additional context when Bundles are used (e.g. HATEOAS ).

web

www.ehealth.fgov.be

(copied from BE eHealth Platform Federal Core Profiles ) Extension able to hold a reference and a concept (Temporary solution until https://jira.hl7.org/browse/FHIR-44661 is solved and see Zulip: https://chat.fhir.org/#narrow/stream/179280-fhir.2Finfrastructure-wg/topic/Backporting.20CodeableReference )

web

wiki.ihe.net

This is a metadata field from XDS/MHD .

web

ckm.openehr.org

openEHR Project: Genomics

web

www.england.nhs.uk

NHS England Genomics Test Reporting Specification

web

hl7.eu

HL7 Europe Laboratory Report Composition-eu-lab

web

www.england.nhs.uk

NHS England Genomics Test Reporting Specification and ACGS reporting guidance

web

www.england.nhs.uk

Clinical indication and the National Genomic Test Directory test requested. Could instead be in the Composition header only

web

snomed.info

SNOMED CT Concept Domain Binding

web

drive.google.com

NHS England HL7 v2 DG1 ADT Message Specification

web

tx.hl7europe.eu

eHDSI Illness and Disorder

web

www.omg.org

ServD

web

www.archi-lab.io

Rule 3: Reference Other Aggregates by Identity (Implementing Domain Driven Design)

web

www.enterpriseintegrationpatterns.com

Enterprise Integration Patterns - Correlation Identifier .

web

hl7-definition.caristix.com

HL7 v2 EI - Entity Identifier

web

hl7-definition.caristix.com

HL7 v2 CX - Extended Composite ID with Check Digit

web

ihe.net

XDS metadata equivalent

web

www.ihe-europe.net

IHE Europe Document Metadata (this contains references to NHS England terminology)

web

www.digihealthcare.scot

Digital Health and Care Scotland - (EH4001) CLINICAL DOCUMENT INDEXING STANDARDS

web

www.datadictionary.nhs.uk

ACTIVITY LOCATION TYPE CODE

web

drive.google.com

NHS England HL7 v2 PV1 ADT Message Specification

web

fhir.interweavedigital.com

For detailed notes on FHIR Encounter in a NHS region, see Yorkshire and Humberside Care Record (YHCR) - FHIR Encounter ( YHCR GitHub Repository )

web

github.com

For detailed notes on FHIR Encounter in a NHS region, see Yorkshire and Humberside Care Record (YHCR) - FHIR Encounter ( YHCR GitHub Repository )

web

www.enterpriseintegrationpatterns.com

Messaging Event Messsage

web

digital.nhs.uk

NHS England - Multicast Notification Service API

web

github.com

This section is currently being elaborated - see Distributed WGS (dWGS) .

web

github.com

A family (pedigree) whose members are tested together, for example a Distributed WGS (dWGS) Singleton, Duo or Trio.

web

medizininformatik-initiative.github.io

A related profile can be found in HL7 Germany (Medizininformatik-Initiative): MII PR MolGen Familienanamnese .

web

www.datadictionary.nhs.uk

GS1 GLOBAL SERVICE RELATION NUMBER - identifies the patient as recipient of a service, under the NHS Scan4Safety programme. See also GS1 Pathology .

web

www.gs1uk.org

GS1 GLOBAL SERVICE RELATION NUMBER - identifies the patient as recipient of a service, under the NHS Scan4Safety programme. See also GS1 Pathology .

web

gs1hospital.gs1.org

GS1 GLOBAL SERVICE RELATION NUMBER - identifies the patient as recipient of a service, under the NHS Scan4Safety programme. See also GS1 Pathology .

web

www.datadictionary.nhs.uk

GS1 SERVICE RELATION INSTANCE NUMBER - the GS1-standardised equivalent of an account/visit number, under the NHS Scan4Safety programme. See also GS1 Pathology .

web

gs1hospital.gs1.org

GS1 SERVICE RELATION INSTANCE NUMBER - the GS1-standardised equivalent of an account/visit number, under the NHS Scan4Safety programme. See also GS1 Pathology .

web

www.gs1.org

No NHS Data Dictionary entry - this is GS1's own global standard, not an NHS-specific data item. See GS1 Serial Shipping Container Code (SSCC) and GS1 Pathology . The generic, non-GS1 equivalent already used elsewhere in this IG is Shipment Tracking Number .

web

gs1hospital.gs1.org

web

fhir.nwgenomics.nhs.uk

FHIR (this IG)

web

fhir.nwgenomics.nhs.uk

Questionnaire (linkId)

web

kevinmayfield.github.io

Clinical Referral logical model (Patient Care Coordination, proof of concept) - the forms and clinical document pattern used here

web

github.com

Genomic Test Order's Ask At Order Entry Questionnaires model order-type-specific detail as structured, coded data. A referral's equivalent detail doesn't have that today: per Genetic Referrals 's "Genetic Counselling / Cascade Testing Referral" section and Cancer Background Information for Use Cases - Genetic Counselling Referral Across Regions , this detail is carried in an unstructured family letter - a dictated or secure-email clinical letter summarising the variant/condition, the inheritance pattern, and which relatives are thought to be at risk. Rather than inventing a structured family-history data model that doesn't exist in current practice, this model treats the letter itself as an attachment: ServiceRequest.supportingInfo references a DocumentReference , whose content.attachment.url points at a Binary holding the actual document (with a separate free-text ServiceRequest.note item as a fallback for a brief note sent without an attached letter). This is not a new pattern invented for this model - it is the same shape NHS e-Referral Service (eRS) already uses for referral attachments ( ReferralRequest.supportingInfo -> DocumentReference ), see Genetic Referrals - eRS FHIR Resource Model .

web

fhir.nwgenomics.nhs.uk

Questionnaire (linkId)

web

www.england.nhs.uk

NHS Genomic Medicine Service test order forms

web

martinfowler.com

This message is an aggregate (DDD) / archetype and so is a collection of FHIR Resources (similar to v2 segments) which is described in From Logical Model to Implementation Model above and ServiceRequest .

web

en.wikipedia.org

web

specifications.openehr.org

The Questionnaires in this IG are regarded as Domain Archetypes - a term deliberately borrowed from openEHR , where an archetype is a formal, reusable model of a clinical/domain concept used to elaborate a data model during a project's early stages, independent of how it's later persisted or exchanged. The common cores ( Genomic Test Order and Genomic Test Report ) are documented as FHIR logical models; the Ask At Order Entry questions as Questionnaire s. The link to openEHR's own archetype concept is intentional, not coincidental.

web

github.com

dWGS Ask At Order Entry Questions - see dWGS . The full 42-field digital manifest is separately documented as a CSV manifest description at dWGS Sub-Order Manifest , not itself an Ask At Order Entry Questionnaire

web

github.com

HLA Tests - Transplant Ask At Order Entry - see Histocompatibility and Immunogenetics - combines directly with the common core, no separate Common tier of its own today

web

github.com

Chimerism Test Additional Ask At Order Entry Questions - see Histocompatibility and Immunogenetics - combines directly with the common core, no separate Common tier of its own today

web

github.com

Unlike Order Entry Questions above, this pathway is manual end to end: an EPR/Order Comms system may optionally exist upstream to print the form, but the paper form itself - not a Questionnaire / QuestionnaireResponse combination an EPR completes electronically - is what actually travels with the specimen to the laboratory, where its answers are manually entered into the LIMS. HL7 v2 OML_O21 / FHIR Message O21 can still be produced at the end of this - see ctDNA Management Information - Current Process , where NW Genomics manually enters a paper-based order into iGene and the Regional Integration Engine (RIE) later converts that into a genuine FHIR Message O21 , a copy of which is sent on to NE&Y Genomics - but the message is only ever as complete as the paper form was: a field missing from the paper form is missing from the message too , with no upstream Questionnaire/QuestionnaireResponse to have captured it electronically in the first place. This is the direct opposite of Order Entry Questions ' own pathway, which requires substantially less manual processing at both order creation in the referring NHS Trust and receipt at the NHS Diagnostic Service, precisely because the Questionnaire/message combination is populated electronically throughout rather than transcribed from paper partway through.

web

mft.nhs.uk

The twelve forms above are the NW GLH's own paper test request forms , plus the two national NHS Genomic Medicine Service (GMS) WGS forms NW GLH also uses (distinct from the NW GLH-specific WGS local paper order) - each compared directly against this logical model below using the same fields every paper order form needs to identify: NHS Number, Medical Record Number, Order Placer Number, Account Number/Hospital Spell Identifier, Specimen Identifier, Test Code, Ordering Facility, and Ordering Clinician (GMC/GMP).

web

fhir.nwgenomics.nhs.uk

Questionnaire (linkId)

web

ckm.openehr.org

openEHR Genomics Project

web

www.rcr.ac.uk

The Royal College of Radiologists Reporting networks - understanding the technical options

web

hl7.eu

HL7 Europe Core - DiagnosticReport

web

github.com

See ctDNA Management Information - How the Two Event Messages Link Together for a fuller worked explanation of solicited vs unsolicited reports in this IG.

web

github.com

BCR-ABL Monitoring

web

github.com

OMICS DSS Result Integration - see Outstanding Issues for why Loss of Heterozygosity is modelled this way

web

github.com

OMICS DSS Result Integration - see Outstanding Issues for why Loss of Heterozygosity is modelled this way

web

github.com

Haemato-Oncology Diagnostic Pathway - Future genomic data model (proposed)

web

www.researchgate.net

The underlying concept - numbering a family/pedigree as a unit, distinct from numbering each individual - is rooted in general clinical genetics/genetic counselling practice, standardised by the National Society of Genetic Counselors' pedigree nomenclature , not invented by any single genomics programme.

web

github.com

Identifies a family/pedigree tested together, e.g. related Distributed WGS (dWGS) participants. Not a patient identifier

web

www.datadictionary.nhs.uk

HOSPITAL PROVIDER SPELL IDENTIFIER - a unique identifier for a period of care under one Trust (admission to discharge), assigned by the PAS/EPR. No national OID; each Trust assigns its own.

web

drive.google.com

Visit Number (PV1-19). See NHS England HL7 v2 ADT Message Specification PV1 documentation.

web

fhir.interweavedigital.com

Patient Administration Related to Yorkskhire and Humberside - EncounterGrouping

web

ckm.openehr.org

openEHR Laboratory analyte result

web

github.com

A Laboratory Analyte Result carries a single measured/detected substance (analyte) from the analytical phase of testing through to the Observation referenced by DiagnosticReport.result . See BCR-ABL Monitoring for a worked use case of this profile - BCR-ABL1 quantification for chronic myeloid leukaemia (CML) monitoring, from a Cepheid-class ASTM-communicating analyser through to iGene.

web

github.com

These entries are expressed in Observation.component - see BCR-ABL Monitoring for a worked example.

web

www.datadictionary.nhs.uk

LOCAL PATIENT IDENTIFIER - a hospital-assigned identifier, not a nationally-issued number. There is no single national OID or value format; each Trust's PAS/EPR assigns its own.

web

www.enterpriseintegrationpatterns.com

Messaging Document Message

web

github.com

This is this IG's preferred pattern for representing Loss of Heterozygosity (LOH) - see OMICS DSS Result Integration for the decision and the tradeoff against modelling LOH as a bare component/extension on Variant instead.

web

github.com

No NHS Data Dictionary entry. The referral_id is returned by TOMS (Test Order Management System, Genomics England) for a Distributed WGS (dWGS) referral. Every participant tested together in that referral shares it, so it identifies the family ( Family Genetic Group ) and can be used as the Order Group Number. It is always assigned by Genomics England Limited (ODS 8J834 ).

web

www.datadictionary.nhs.uk

England/Wales: NHS NUMBER

web

www.datadictionary.nhs.uk

Northern Ireland: HEALTH AND CARE NUMBER

web

www.datadictionary.nhs.uk

Scotland: COMMUNITY HEALTH INDEX NUMBER

web

www.datadictionary.nhs.uk

Format: NNNNNNNNNN, values include a checksum, details can be found in NHS NUMBER

web

drive.google.com

NHS England HL7 v2 OBX ADT Message Specification

web

www.datadictionary.nhs.uk

ORGANISATION CODE - issued by NHS England's Organisation Data Service (ODS) , unique and never reused for the lifetime of the organisation.

web

digital.nhs.uk

ORGANISATION CODE - issued by NHS England's Organisation Data Service (ODS) , unique and never reused for the lifetime of the organisation.

web

www.datadictionary.nhs.uk

ORGANISATION SITE IDENTIFIER - identifies a physical site (e.g. a hospital building) belonging to an Organisation Code , issued by NHS England's Organisation Data Service (ODS).

web

www.omg.org

ServD

web

drive.google.com

NHS England HL7 v2 XON ADT Message Specification

web

hl7-definition.caristix.com

HL7 v2 XON – Extended Composite Name and Identification Number for Organisations

web

profiles.ihe.net

IHE Mobile Care Services Discovery (mCSD)

web

digital.nhs.uk

This reference may be able to point to Care Service Directory services provided by NHS England Organisation Data Terminology - FHIR API (or alternatively downloaded from NHS England Organisation Data Service - CSV Downloads , therefore it is proposed

web

digital.nhs.uk

web

www.datadictionary.nhs.uk

Organisation Code
Organisation Site Code when a site code is used Organization.partOf must be populated with parent organisation code

web

www.datadictionary.nhs.uk

Parent Organisation Code

web

drive.google.com

NHS England HL7 v2 PID ADT Message Specification

web

www.datadictionary.nhs.uk

LOCAL PATIENT IDENTIFIER - the same underlying NHS Data Dictionary concept as Medical Record Number . This profile is a more generic (v2 type PI ) fallback; NHS England's Canonical Data Model states it is not applicable and that Medical Record Number (type MR ) should be used instead - this profile is retained here only for completeness/legacy interoperability.

web

future.nhs.uk

web

drive.google.com

NHS England HL7 v2 XCN ADT Message Specification

web

hl7-definition.caristix.com

HL7 v2 XCN Extended Composite ID Number and Name for Persons

web

www.datadictionary.nhs.uk

It is not clear in Enterprise/Regional use of FHIR which approach Resource or Reference should be taken, both HL7 v2 and FHIR support Reference aggregate or entities by identity from Dommain Driven Design (DDD) and this appears to also be followed by IHE XDS and DICOM. In addition, NHS England Data Dictionary and NHS England HL7 v2 ADT Message Specification favour Reference NHS England FHIR STU3/R4 specifications around Messaging, tend to favour Resource .

web

digital.nhs.uk

It is likely that the reference may be able to point to Care Service Directory services provided by NHS England Healthcare Worker - FHIR API in the near future,(or alternatively downloaded from NHS England Organisation Data Service - CSV Downloads . Therefore: it is proposed:

web

digital.nhs.uk

web

www.datadictionary.nhs.uk

CONSULTANT CODE , GENERAL MEDICAL PRACTITIONER PPD CODE and PROFESSIONAL REGISTRATION ENTRY IDENTIFIER - this profile covers the family of professional-regulator registration numbers (GMC, NMC, GPhC, HCPC) plus locally/nationally-issued NHS identifiers (SDS User ID, GMC Reference Number) used to identify a practitioner.

web

www.datadictionary.nhs.uk

web

www.datadictionary.nhs.uk

web

www.datadictionary.nhs.uk

PROFESSIONAL REGISTRATION ENTRY IDENTIFIER

web

www.datadictionary.nhs.uk

GENERAL MEDICAL PRACTITIONER PPD CODE

web

www.datadictionary.nhs.uk

CONSULTANT_CODE

web

siframework.org

Quality Improvement and Clinical Knowledge (QUICK)

web

www.gs1uk.org

The_Management_of_Pathology_using_GS1_Standards - UK

Specimen.identifier
- GS1 Global Individual Asset Identifier (GIAI) urn:oid:2.51.1.5
Shipment Tracking Number
- GS1 Serial Shipping Container Code (SSCC) urn:oid:2.51.1.2

web

www.gs1.org

GS1 Global Individual Asset Identifier (GIAI) urn:oid:2.51.1.5

web

www.gs1.org

GS1 Serial Shipping Container Code (SSCC) urn:oid:2.51.1.2

web

www.optimalblooduse.eu

Optimal Blood Use - EU This is more comprehensive than a sample for laboratory testing.

web

github.com

dWGS

web

github.com

DSS Work Order

web

www.datadictionary.nhs.uk

No NHS Data Dictionary entry for the general (pathology/genomics) specimen accession number - it is a laboratory-assigned identifier, not a nationally defined one. The closest NHS Data Dictionary analogue is RADIOLOGICAL ACCESSION NUMBER , which applies to imaging studies rather than specimens.

web

www.datadictionary.nhs.uk

In pathology and genomics, the accession number refers to the Specimen. In imaging the accession number refers to the imaging test RADIOLOGICAL ACCESSION NUMBER

web

www.ihe.net

IHE Pathology and Laboratory Medicine (PaLM) Volume 2 - LAB-4 from the LIMS, offers a potential approach to handling this.

web

www.ihe.net

IHE Pathology and Laboratory Medicine (PaLM) Volume 2 - LAB-4 from the LIMS, which can be issued whenever specimen details are updated.

web

www.ga4gh.org

GA4GH Genetic Variation Formats (VCF)

web

ckm.openehr.org

openEHR Genomic variant result

web

fhir.interweavedigital.com

Patient Administration Equivalent to Yorkskhire and Humberside - Encounter

web

www.datadictionary.nhs.uk

No distinct, confirmed NHS Data Dictionary entry for "Visit Number" itself - closely related to Hospital Provider Spell Identifier ( HOSPITAL PROVIDER SPELL IDENTIFIER ), which this v2 field is often used to carry in practice.

web

www.ehealth.fgov.be

Simple Extension with the type CodeableConcept: (copied from BE eHealth Platform Federal Core Profiles ) Extension able to hold a reference and a concept (Temporary solution until https://jira.hl7.org/browse/FHIR-44661 is solved and see Zulip: https://chat.fhir.org/#narrow/stream/179280-fhir.2Finfrastructure-wg/topic/Backporting.20CodeableReference )

web

www.england.nhs.uk

See National genomic test directory for cancer (non-CNS v16) on Genomic Test Directory

web

github.com

How many family members are tested together: Singleton, Duo or Trio. See dWGS - Singleton, Duo and Trio testing .

web

snomed.info

47461006

web

snomed.info

66511000119102

web

snomed.info

66551000119101

web

snomed.info

66601000119104

web

snomed.info

66621000119108

web

snomed.info

66631000119106

web

snomed.info

66661000119103

web

snomed.info

66721000119101

web

snomed.info

66731000119103

web

snomed.info

66751000119109

web

snomed.info

66781000119102

web

snomed.info

66971000119103

web

snomed.info

90671000119109

web

snomed.info

98311000119105

web

snomed.info

98421000119108

web

snomed.info

137511000119103

web

snomed.info

286481000119102

web

snomed.info

302571000000101

web

snomed.info

384511000000103

web

snomed.info

384671000000109

web

snomed.info

750571000000106

web

snomed.info

750601000000104

web

snomed.info

1128411000000105

web

snomed.info

1219071000000109

web

snomed.info

1219081000000106

web

snomed.info

1219171000000108

web

snomed.info

1219181000000105

web

snomed.info

1219301000000103

web

snomed.info

481462461000119102

web

snomed.info

559151051000119108

web

snomed.info

680035451000119103

web

snomed.info

697788021000119105

web

snomed.info

106221001

web

snomed.info

816009

web

snomed.info

842009

web

snomed.info

1168007

web

snomed.info

1318006

web

snomed.info

2308003

web

snomed.info

2351004

web

snomed.info

3067005

web

snomed.info

6800004

web

snomed.info

7599007

web

snomed.info

8116006

web

snomed.info

9109004

web

snomed.info

10589004

web

snomed.info

12645001

web

snomed.info

13300001

web

snomed.info

13333006

web

snomed.info

14915001

web

snomed.info

16345006

web

snomed.info

17523003

web

snomed.info

19482002

web

snomed.info

22061001

web

snomed.info

22986007

web

snomed.info

24403008

web

snomed.info

25132006

web

snomed.info

25194005

web

snomed.info

25363001

web

snomed.info

25384006

web

snomed.info

25900007

web

snomed.info

26608005

web

snomed.info

28820008

web

snomed.info

29286002

web

snomed.info

29549004

web

snomed.info

31091003

web

snomed.info

32475006

web

snomed.info

34216002

web

snomed.info

34782005

web

snomed.info

34850003

web

snomed.info

35147005

web

snomed.info

37819008

web

snomed.info

38194003

web

snomed.info

38789009

web

snomed.info

39751009

web

snomed.info

40976007

web

snomed.info

41482005

web

snomed.info

43245005

web

snomed.info

43376001

web

snomed.info

45212007

web

snomed.info

45427005

web

snomed.info

45597001

web

snomed.info

45803000

web

snomed.info

47708004

web

snomed.info

47986005

web

snomed.info

50334000

web

snomed.info

50606000

web

snomed.info

51512005

web

snomed.info

52816004

web

snomed.info

54236009

web

snomed.info

54828006

web

snomed.info

55446002

web

snomed.info

56879003

web

snomed.info

57196006

web

snomed.info

57652005

web

snomed.info

58460004

web

snomed.info

60181007

web

snomed.info

60844005

web

snomed.info

61668005

web

snomed.info

61828008

web

snomed.info

63693001

web

snomed.info

64195000

web

snomed.info

64245008

web

snomed.info

64553001

web

snomed.info

65087006

web

snomed.info

65247007

web

snomed.info

69604007

web

snomed.info

69868005

web

snomed.info

72633008

web

snomed.info

72644000

web

snomed.info

73804003

web

snomed.info

74354009

web

snomed.info

74428002

web

snomed.info

74836001

web

snomed.info

78473004

web

snomed.info

79248008

web

snomed.info

79667004

web

snomed.info

81835007

web

snomed.info

81919004

web

snomed.info

82283002

web

snomed.info

83579008

web

snomed.info

85559002

web

snomed.info

85599004

web

snomed.info

85900004

web

snomed.info

85938000

web

snomed.info

86457007

web

snomed.info

87682005

web

snomed.info

88942003

web

snomed.info

89017001

web

snomed.info

89109006

web

snomed.info

89551006

web

snomed.info

89744004

web

snomed.info

103225004

web

snomed.info

110440006

web

snomed.info

110441005

web

snomed.info

110442003

web

snomed.info

112143006

web

snomed.info

112144000

web

snomed.info

112149005

web

snomed.info

112211004

web

snomed.info

112212006

web

snomed.info

115665000

web

snomed.info

115730009

web

snomed.info

115731008

web

snomed.info

115732001

web

snomed.info

115734000

web

snomed.info

115735004

web

snomed.info

115736003

web

snomed.info

115737007

web

snomed.info

115748000

web

snomed.info

115749008

web

snomed.info

115750008

web

snomed.info

115751007

web

snomed.info

115752000

web

snomed.info

115753005

web

snomed.info

115754004

web

snomed.info

115755003

web

snomed.info

115756002

web

snomed.info

115758001

web

snomed.info

115759009

web

snomed.info

115760004

web

snomed.info

115761000

web

snomed.info

115762007

web

snomed.info

115763002

web

snomed.info

115764008

web

snomed.info

115794002

web

snomed.info

115795001

web

snomed.info

115796000

web

snomed.info

115797009

web

snomed.info

115798004

web

snomed.info

115799007

web

snomed.info

115800006

web

snomed.info

115801005

web

snomed.info

115802003

web

snomed.info

115803008

web

snomed.info

115804002

web

snomed.info

115805001

web

snomed.info

115821006

web

snomed.info

115822004

web

snomed.info

115823009

web

snomed.info

115824003

web

snomed.info

115825002

web

snomed.info

115826001

web

snomed.info

115827005

web

snomed.info

115830003

web

snomed.info

115831004

web

snomed.info

115832006

web

snomed.info

115833001

web

snomed.info

115834007

web

snomed.info

115835008

web

snomed.info

115837000

web

snomed.info

115838005

web

snomed.info

115839002

web

snomed.info

115844009

web

snomed.info

115845005

web

snomed.info

115851000

web

snomed.info

115852007

web

snomed.info

115853002

web

snomed.info

115854008

web

snomed.info

115855009

web

snomed.info

115860008

web

snomed.info

115861007

web

snomed.info

115866002

web

snomed.info

115867006

web

snomed.info

115940004

web

snomed.info

118205009

web

snomed.info

124972006

web

snomed.info

124975008

web

snomed.info

124976009

web

snomed.info

124977000

web

snomed.info

124979002

web

snomed.info

124980004

web

snomed.info

124981000

web

snomed.info

124982007

web

snomed.info

124988006

web

snomed.info

131149001

web

snomed.info

131150001

web

snomed.info

131151002

web

snomed.info

131152009

web

snomed.info

131153004

web

snomed.info

131154005

web

snomed.info

131155006

web

snomed.info

131156007

web

snomed.info

131157003

web

snomed.info

131158008

web

snomed.info

131159000

web

snomed.info

131160005

web

snomed.info

131161009

web

snomed.info

131162002

web

snomed.info

131163007

web

snomed.info

131164001

web

snomed.info

131165000

web

snomed.info

131166004

web

snomed.info

131167008

web

snomed.info

131168003

web

snomed.info

131169006

web

snomed.info

131178000

web

snomed.info

131179008

web

snomed.info

131180006

web

snomed.info

131181005

web

snomed.info

165743006

web

snomed.info

165746003

web

snomed.info

165747007

web

snomed.info

199738000

web

snomed.info

250376006

web

snomed.info

250685002

web

snomed.info

250686001

web

snomed.info

250687005

web

snomed.info

250688000

web

snomed.info

250689008

web

snomed.info

250690004

web

snomed.info

250691000

web

snomed.info

250693002

web

snomed.info

250694008

web

snomed.info

250695009

web

snomed.info

250696005

web

snomed.info

250697001

web

snomed.info

250698006

web

snomed.info

264771009

web

snomed.info

278147001

web

snomed.info

278148006

web

snomed.info

278149003

web

snomed.info

278150003

web

snomed.info

278151004

web

snomed.info

278152006

web

snomed.info

278153001

web

snomed.info

278154007

web

snomed.info

302960008

web

snomed.info

312969002

web

snomed.info

325753009

web

snomed.info

326724004

web

snomed.info

327671006

web

snomed.info

365832006

web

snomed.info

365833001

web

snomed.info

405847005

web

snomed.info

405848000

web

snomed.info

405849008

web

snomed.info

405850008

web

snomed.info

405851007

web

snomed.info

405852000

web

snomed.info

405853005

web

snomed.info

405854004

web

snomed.info

405855003

web

snomed.info

405856002

web

snomed.info

405857006

web

snomed.info

405858001

web

snomed.info

405859009

web

snomed.info

405860004

web

snomed.info

405861000

web

snomed.info

405862007

web

snomed.info

405863002

web

snomed.info

405864008

web

snomed.info

405865009

web

snomed.info

405866005

web

snomed.info

405868006

web

snomed.info

405869003

web

snomed.info

405870002

web

snomed.info

405871003

web

snomed.info

405872005

web

snomed.info

405873000

web

snomed.info

405874006

web

snomed.info

405875007

web

snomed.info

405876008

web

snomed.info

405877004

web

snomed.info

405878009

web

snomed.info

405879001

web

snomed.info

405880003

web

snomed.info

405881004

web

snomed.info

405882006

web

snomed.info

405883001

web

snomed.info

405884007

web

snomed.info

405885008

web

snomed.info

405886009

web

snomed.info

405887000

web

snomed.info

405888005

web

snomed.info

405889002

web

snomed.info

405890006

web

snomed.info

405891005

web

snomed.info

405892003

web

snomed.info

405893008

web

snomed.info

405894002

web

snomed.info

405895001

web

snomed.info

405896000

web

snomed.info

405897009

web

snomed.info

405898004

web

snomed.info

405899007

web

snomed.info

405900002

web

snomed.info

405901003

web

snomed.info

412730000

web

snomed.info

412731001

web

snomed.info

412734009

web

snomed.info

412736006

web

snomed.info

412738007

web

snomed.info

412739004

web

snomed.info

413596002

web

snomed.info

430934002

web

snomed.info

445180002

web

snomed.info

445333001

web

snomed.info

471281007

web

snomed.info

471282000

web

snomed.info

702781009

web

snomed.info

702782002

web

snomed.info

702783007

web

snomed.info

705105000

web

snomed.info

709075008

web

snomed.info

710010005

web

snomed.info

710019006

web

snomed.info

719007008

web

snomed.info

733119003

web

snomed.info

733120009

web

snomed.info

738288005

web

snomed.info

738289002

web

snomed.info

738532000

web

snomed.info

738533005

web

snomed.info

738534004

web

snomed.info

738535003

web

snomed.info

738536002

web

snomed.info

738537006

web

snomed.info

738538001

web

snomed.info

738539009

web

snomed.info

738540006

web

snomed.info

738541005

web

snomed.info

738542003

web

snomed.info

738543008

web

snomed.info

738544002

web

snomed.info

738545001

web

snomed.info

738546000

web

snomed.info

738547009

web

snomed.info

738760000

web

snomed.info

738761001

web

snomed.info

738762008

web

snomed.info

738763003

web

snomed.info

738764009

web

snomed.info

738765005

web

snomed.info

738766006

web

snomed.info

738782007

web

snomed.info

738783002

web

snomed.info

738784008

web

snomed.info

738785009

web

snomed.info

738786005

web

snomed.info

738787001

web

snomed.info

738788006

web

snomed.info

738789003

web

snomed.info

738790007

web

snomed.info

739062009

web

snomed.info

739063004

web

snomed.info

739064005

web

snomed.info

739071000

web

snomed.info

739072007

web

snomed.info

772077005

web

snomed.info

772078000

web

snomed.info

772107008

web

snomed.info

772108003

web

snomed.info

772109006

web

snomed.info

772110001

web

snomed.info

781386002

web

snomed.info

787128002

web

snomed.info

787129005

web

snomed.info

787130000

web

snomed.info

787131001

web

snomed.info

787132008

web

snomed.info

787133003

web

snomed.info

787134009

web

snomed.info

787154005

web

snomed.info

787192006

web

snomed.info

787193001

web

snomed.info

787194007

web

snomed.info

787358002

web

snomed.info

787360000

web

snomed.info

787363003

web

snomed.info

787364009

web

snomed.info

787365005

web

snomed.info

787366006

web

snomed.info

787367002

web

snomed.info

787368007

web

snomed.info

787369004

web

snomed.info

787380004

web

snomed.info

787381000

web

snomed.info

787382007

web

snomed.info

787383002

web

snomed.info

787384008

web

snomed.info

787385009

web

snomed.info

787386005

web

snomed.info

787403004

web

snomed.info

787404005

web

snomed.info

787405006

web

snomed.info

787406007

web

snomed.info

787433006

web

snomed.info

787434000

web

snomed.info

787435004

web

snomed.info

792857006

web

snomed.info

890189007

web

snomed.info

1003612008

web

snomed.info

1003641004

web

snomed.info

1004155003

web

snomed.info

1010400009

web

snomed.info

1141749000

web

snomed.info

1142134000

web

snomed.info

1144910008

web

snomed.info

1144913005

web

snomed.info

1144930007

web

snomed.info

1156628004

web

snomed.info

1162602001

web

snomed.info

1179760003

web

snomed.info

1217473009

web

snomed.info

1217474003

web

snomed.info

1237618009

web

snomed.info

1254911003

web

snomed.info

71951000119107

web

snomed.info

85121000119109

web

snomed.info

204871000237101

web

snomed.info

204881000237104

web

snomed.info

204891000237102

web

snomed.info

204901000237101

web

snomed.info

248211000000106

web

snomed.info

248221000000100

web

snomed.info

302841000000105

web

snomed.info

912201000000104

web

snomed.info

1099611000119109

web

www.england.nhs.uk

See NHS England Genomic Test Directory

web

github.com

All codes from the Histotrac CodeSystem - the Patient Test(s) order-detail restatement codes Histotrac itself uses alongside its Test Code (OBR-4). Bound to ServiceRequest.orderDetail - see Histocompatibility and Immunogenetics for the worked examples this covers.

web

profiles.ihe.net

IHE Patient Encounter Management [ITI-31]

web

snomed.info

77386006

web

snomed.info

255407002

web

www.england.nhs.uk

See National genomic test directory for rare and inherited disease (v9) on Genomic Test Directory

web

snomed.info

371526002

web

snomed.info

371527006

web

snomed.info

371528001

web

snomed.info

399345000

web

snomed.info

406018008

web

snomed.info

406019000

web

snomed.info

406020006

web

snomed.info

406021005

web

snomed.info

406022003

web

snomed.info

406023008

web

snomed.info

406024002

web

snomed.info

406025001

web

snomed.info

406026000

web

snomed.info

406027009

web

snomed.info

406028004

web

snomed.info

406029007

web

snomed.info

406030002

web

snomed.info

406031003

web

snomed.info

406032005

web

snomed.info

406033000

web

snomed.info

406034006

web

snomed.info

406035007

web

snomed.info

406036008

web

snomed.info

406037004

web

snomed.info

406038009

web

snomed.info

406039001

web

snomed.info

406040004

web

snomed.info

406041000

web

snomed.info

406042007

web

snomed.info

406043002

web

snomed.info

406044008

web

snomed.info

406045009

web

snomed.info

406046005

web

snomed.info

406047001

web

snomed.info

406048006

web

snomed.info

406049003

web

snomed.info

406050003

web

snomed.info

406051004

web

snomed.info

406052006

web

snomed.info

406053001

web

snomed.info

406054007

web

snomed.info

406055008

web

snomed.info

406056009

web

snomed.info

406057000

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snomed.info

406058005

web

snomed.info

406059002

web

snomed.info

406060007

web

snomed.info

406061006

web

snomed.info

406062004

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snomed.info

406063009

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snomed.info

406064003

web

snomed.info

406065002

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snomed.info

406066001

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snomed.info

406067005

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snomed.info

406068000

web

snomed.info

406069008

web

snomed.info

406070009

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snomed.info

406073006

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snomed.info

406074000

web

snomed.info

406075004

web

snomed.info

406076003

web

snomed.info

406077007

web

snomed.info

406078002

web

snomed.info

406079005

web

snomed.info

406080008

web

snomed.info

406081007

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snomed.info

409713006

web

snomed.info

409740006

web

snomed.info

416700005

web

snomed.info

417185000

web

snomed.info

421411003

web

snomed.info

421714007

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snomed.info

421870003

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snomed.info

422817006

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snomed.info

423000007

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snomed.info

423183009

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snomed.info

423372007

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snomed.info

714335001

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snomed.info

714337009

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snomed.info

720449003

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snomed.info

721599005

web

snomed.info

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snomed.info

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snomed.info

721968000

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snomed.info

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snomed.info

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snomed.info

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snomed.info

725956001

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snomed.info

726566009

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snomed.info

770572002

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snomed.info

770573007

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snomed.info

770574001

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snomed.info

770575000

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snomed.info

782659005

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

4241000179101

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snomed.info

4251000179103

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snomed.info

4261000179100

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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web

www.datadictionary.nhs.uk

NHS Data Model and Dictionary ADMISSION METHOD

web

www.datadictionary.nhs.uk

NHS Data Model and Dictionary ADMISSION SOURCE

web

www.datadictionary.nhs.uk

NHS Data Model and Dictionary DESTINATION OF DISCHARGE

web

www.datadictionary.nhs.uk

NHS Data Model and Dictionary DISCHARGE METHOD CODE

web

fhir.ch

Switzerland DocumentEntry.classCode

web

github.com

NHS England NRL - Record Category

web

snomed.info

721963009

web

snomed.info

734163000

web

snomed.info

371525003

web

snomed.info

422735006

web

snomed.info

371537001

web

snomed.info

419891008

web

fhir.ch

Switzerland DocumentEntry.mimeType

web

www.digihealthcare.scot

Digital Health and Care Scotland (EH4001) CLINICAL DOCUMENT INDEXING STANDARDS LA Labs

web

github.com

NHS England NRL -Record Type

web

snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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web

snomed.info

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web

snomed.info

307930005

web

snomed.info

826511000000103

web

snomed.info

820291000000107

web

snomed.info

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snomed.info

826631000000107

web

snomed.info

826521000000109

web

snomed.info

308575004

web

snomed.info

310854009

web

snomed.info

308619006

web

snomed.info

270372007

web

snomed.info

270370004

web

snomed.info

307881004

web

snomed.info

270358003

web

snomed.info

308621001

web

snomed.info

820301000000106

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snomed.info

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web

snomed.info

826541000000102

web

snomed.info

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web

snomed.info

408403008

web

snomed.info

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web

snomed.info

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web

snomed.info

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web

snomed.info

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web

snomed.info

1054091000000108

web

snomed.info

1054071000000109

web

snomed.info

827711000000108

web

snomed.info

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web

snomed.info

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web

snomed.info

822801000000103

web

snomed.info

822791000000102

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snomed.info

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web

snomed.info

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web

snomed.info

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snomed.info

822821000000107

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snomed.info

822831000000109

web

snomed.info

823891000000102

web

snomed.info

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web

snomed.info

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web

snomed.info

229059009

web

snomed.info

823901000000101

web

snomed.info

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web

snomed.info

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web

www.datadictionary.nhs.uk

NHS Data Model and Dictionary ETHNIC CATEGORY This extends UKCoreEthnicCategory to include other categories for reasons stated in Wikipedia: Classification of ethnicity in the United Kingdom

web

en.wikipedia.org

NHS Data Model and Dictionary ETHNIC CATEGORY This extends UKCoreEthnicCategory to include other categories for reasons stated in Wikipedia: Classification of ethnicity in the United Kingdom

web

www.datadictionary.nhs.uk

NHS Data Model and Dictionary ACTIVITY LOCATION TYPE CODE

web

snomed.info

1186936003

web

www.datadictionary.nhs.uk

DRAFT NHS Data Model and Dictionary TREATMENT FUNCTION CODE

web

snomed.info

736622005

web

snomed.info

310000008

web

snomed.info

445449000

web

snomed.info

2421000175108

web

snomed.info

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web

snomed.info

310072004

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snomed.info

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snomed.info

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snomed.info

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web

snomed.info

310013002

web

snomed.info

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snomed.info

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snomed.info

310006002

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snomed.info

23891000087102

web

snomed.info

310016005

web

snomed.info

310033003

web

snomed.info

788002001

web

snomed.info

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web

snomed.info

840587001

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snomed.info

711332004

web

snomed.info

310001007

web

snomed.info

708183009

web

snomed.info

827641000000101

web

snomed.info

310083008

web

snomed.info

310082003

web

snomed.info

91901000000109

web

snomed.info

310002000

web

snomed.info

310021008

web

snomed.info

310008001

web

snomed.info

310004004

web

snomed.info

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web

snomed.info

310011000

web

snomed.info

1323631000000102

web

snomed.info

706901001

web

snomed.info

2391000175104

web

snomed.info

408452007

web

snomed.info

892791000000108

web

snomed.info

708194008

web

snomed.info

932241000000105

web

snomed.info

310126000

web

snomed.info

310139001

web

snomed.info

24051000087102

web

snomed.info

892781000000106

web

snomed.info

395104009

web

snomed.info

1323651000000109

web

snomed.info

733459009

web

snomed.info

310142007

web

snomed.info

708172000

web

snomed.info

789718008

web

snomed.info

310140004

web

snomed.info

892771000000109

web

snomed.info

310117003

web

snomed.info

310003005

web

snomed.info

788127005

web

snomed.info

310099002

web

snomed.info

828811000000104

web

snomed.info

310104001

web

snomed.info

722170006

web

snomed.info

830038007

web

snomed.info

310076001

web

snomed.info

788004000

web

snomed.info

892761000000102

web

snomed.info

788121006

web

snomed.info

830037002

web

snomed.info

892741000000103

web

snomed.info

830149003

web

snomed.info

310022001

web

snomed.info

708184003

web

snomed.info

700436003

web

snomed.info

700435004

web

snomed.info

893381000000103

web

snomed.info

708193002

web

snomed.info

310012007

web

snomed.info

310155008

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snomed.info

310024000

web

snomed.info

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web

snomed.info

829981000000108

web

snomed.info

413294000

web

snomed.info

408451000

web

snomed.info

89301000000108

web

snomed.info

714089006

web

snomed.info

931801000000101

web

snomed.info

310108003

web

snomed.info

310111002

web

snomed.info

310067008

web

snomed.info

310131003

web

snomed.info

1240241000000109

web

snomed.info

395086005

web

snomed.info

310114005

web

snomed.info

310091004

web

snomed.info

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web

snomed.info

310088004

web

snomed.info

310102002

web

snomed.info

310025004

web

snomed.info

893351000000109

web

snomed.info

310128004

web

snomed.info

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web

snomed.info

310026003

web

snomed.info

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web

snomed.info

788128000

web

snomed.info

700231006

web

snomed.info

708178001

web

snomed.info

310200001

web

snomed.info

310084002

web

snomed.info

893331000000102

web

snomed.info

828191000000104

web

snomed.info

892731000000107

web

snomed.info

828201000000102

web

snomed.info

310143002

web

snomed.info

722176000

web

snomed.info

700241009

web

snomed.info

708180007

web

snomed.info

444913002

web

snomed.info

734920002

web

snomed.info

963151000000104

web

snomed.info

310005003

web

snomed.info

708175003

web

snomed.info

310028002

web

snomed.info

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web

snomed.info

310090003

web

snomed.info

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web

snomed.info

310010004

web

snomed.info

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web

snomed.info

310029005

web

snomed.info

310085001

web

snomed.info

310149003

web

snomed.info

92191000000105

web

snomed.info

413299005

web

snomed.info

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web

snomed.info

700221004

web

snomed.info

828301000000108

web

snomed.info

792847005

web

snomed.info

409971007

web

snomed.info

2471000175109

web

snomed.info

310150003

web

snomed.info

700434000

web

snomed.info

734862008

web

snomed.info

310030000

web

snomed.info

310031001

web

snomed.info

1323431000000104

web

snomed.info

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web

snomed.info

310118008

web

snomed.info

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web

snomed.info

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web

snomed.info

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snomed.info

310151004

web

snomed.info

310144008

web

snomed.info

310152006

web

snomed.info

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snomed.info

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web

snomed.info

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web

snomed.info

310156009

web

snomed.info

788006003

web

snomed.info

830039004

web

snomed.info

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web

snomed.info

3531000175102

web

snomed.info

892711000000104

web

snomed.info

310061009

web

snomed.info

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web

snomed.info

893311000000105

web

snomed.info

310157000

web

snomed.info

310130002

web

snomed.info

1078501000000104

web

snomed.info

224891009

web

snomed.info

310015009

web

snomed.info

310020009

web

snomed.info

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snomed.info

310158005

web

snomed.info

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web

snomed.info

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web

snomed.info

788124003

web

snomed.info

24081000087105

web

snomed.info

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snomed.info

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web

snomed.info

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snomed.info

310107008

web

snomed.info

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web

snomed.info

310113004

web

snomed.info

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web

snomed.info

310096009

web

snomed.info

310098005

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snomed.info

310089007

web

snomed.info

310103007

web

snomed.info

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web

snomed.info

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web

snomed.info

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web

snomed.info

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snomed.info

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snomed.info

310032008

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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web

snomed.info

310119000

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snomed.info

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snomed.info

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web

snomed.info

710028007

web

snomed.info

310078000

web

snomed.info

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snomed.info

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snomed.info

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snomed.info

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web

snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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web

snomed.info

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web

snomed.info

310086000

web

snomed.info

706903003

web

snomed.info

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web

snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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web

snomed.info

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web

snomed.info

310079008

web

snomed.info

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snomed.info

310159002

web

snomed.info

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snomed.info

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snomed.info

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snomed.info

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web

snomed.info

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web

snomed.info

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web

snomed.info

310060005

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snomed.info

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snomed.info

310064001

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snomed.info

310093001

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snomed.info

310065000

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snomed.info

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snomed.info

310160007

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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web

snomed.info

24351000087104

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snomed.info

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web

snomed.info

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snomed.info

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snomed.info

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snomed.info

310014008

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snomed.info

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snomed.info

310147001

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snomed.info

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snomed.info

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snomed.info

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snomed.info

310007006

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snomed.info

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snomed.info

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snomed.info

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snomed.info

3771000175106

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

310034009

web

snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

310066004

web

snomed.info

310163009

web

snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

310071006

web

snomed.info

310073009

web

snomed.info

893641000000102

web

snomed.info

310162004

web

snomed.info

706900000

web

snomed.info

310074003

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snomed.info

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310132005

web

www.datadictionary.nhs.uk

NHS Data Model and Dictionary MAIN SPECIALTY CODE

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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418018006

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snomed.info

408474001

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

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snomed.info

419321007

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snomed.info

394576009

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snomed.info

394590007

web

snomed.info

409967009

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snomed.info

408448007

web

snomed.info

419043006

web

snomed.info

394612005

web

snomed.info

394733009

web

snomed.info

394732004

web

wiki.ihe.net

IHE Specimen Event Tracking

web

snomed.info

119297000

web

snomed.info

119373006

web

snomed.info

309201001

web

snomed.info

258580003

web

snomed.info

122552005

web

snomed.info

122556008

web

snomed.info

737357006

web

snomed.info

122555007

web

snomed.info

440500007

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snomed.info

119359002

web

snomed.info

733104004

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snomed.info

258450006

web

snomed.info

258565009

web

snomed.info

702451000

web

snomed.info

309147000

web

snomed.info

258566005

web

snomed.info

441652008

web

snomed.info

1003517007

web

snomed.info

122571007

web

snomed.info

418564007

web

snomed.info

119342007

web

snomed.info

441479001

web

snomed.info

122575003

web

snomed.info

441673008

web

digital.nhs.uk

Practitioner openID NHS England CIS2 Authentication

web

digital.nhs.uk

Patient openID NHS England NHS login

web

profiles.ihe.net

Is based on IHE Internet User Authorization (IUA) but using client-credentials grant only (at present).

web

digital.nhs.uk

See also NHS England Security and authorisation NHS England does not currently support detailed JWT tokens in APIM, the previous documentation can be found on JSON Web Token Guidance and Access Tokens and Audit (JWT)

web

webarchive.nationalarchives.gov.uk

web

webarchive.nationalarchives.gov.uk

web

digital.nhs.uk

User Restricted - NHS England NHS login

web

digital.nhs.uk

User Restricted - NHS England CIS2 Authentication

web

profiles.ihe.net

This section is currently being elaborated and subject to change. See IHE Privacy Consent on FHIR (PCF) .

web

hl7.eu

HL7 Europe Laboratory Report

web

www.datadictionary.nhs.uk

NHS Data Dictionary

web

digital.nhs.uk

HL7 UK Core

web

digital.nhs.uk

NHS England DAPB4020: UK Core Fast Healthcare Interoperability Resources (FHIR) Release 4 (R4) Governance

web

digital.nhs.uk

Based on National Record Locator - FHIR API v3 - Producer and SSP Retrieval

web

webarchive.nationalarchives.gov.uk

Based on National Record Locator - FHIR API v3 - Producer and SSP Retrieval

web

en.wikipedia.org

The architecture generally follows Domain Driven Design [DDD] , Domain Driven Design and Data Mesh

web

martinfowler.com

The architecture generally follows Domain Driven Design [DDD] , Domain Driven Design and Data Mesh

web

en.wikipedia.org

The architecture generally follows Domain Driven Design [DDD] , Domain Driven Design and Data Mesh

web

en.wikipedia.org

The Intermediary , North West GMSA Regional Orchestration Engine (RIE) is an Enterprise Service Bus most commonly known in the NHS as a Trust Integration Engine (TIE).

web

www.enterpriseintegrationpatterns.com

This implements as series of Enterprise Integration Patterns based around messaging; the diagrams below follow conventions used for these patterns.

web

www.enterpriseintegrationpatterns.com

The ESB has a Canonical Data Model which is expressed in this Implementation Guide using HL7 FHIR. This model is common to all the exchange formats used in the ESB:

web

en.wikipedia.org

pipe+hat HL7 v2

web

profiles.ihe.net

potential use case for sharing reports: XML IHE XDS.b

web

drive.google.com

NHS England HL7 v2 ADT Message Specification

web

nw-gmsa.github.io

Digital Health and Care Wales - HL7 ORU_R01 2.5.1 Implementation Guide

web

www.rcr.ac.uk

Royal College of Radiologist

web

www.ihe-europe.net

IHE Europe Metadata for exchange medical documents and images see UK content.

web

www.datadictionary.nhs.uk

NHS Data Model and Dictionary

web

future.nhs.uk

NHS Canonical Data Model

web

www.enterpriseintegrationpatterns.com

This canonical model is not specific to Genomics. It is focused on standard message construction patterns in particular CorrelationIdentifier such as Order Numbers and Episode/Stay Identifiers and use of Clinical Coding Systems such as UK SNOMED CT.

web

github.com

web

github.com

web

termbrowser.nhs.uk

1022491000000106 and 1491000237105 SNOMED UK Edition

web

github.com

Worked example of this IG's preferred pattern for Loss of Heterozygosity: a separate MolecularConsequence Observation, derivedFrom the Variant it is the consequence of, rather than a component on the Variant itself. Represents the classic germline-mutation-plus-somatic-LOH "two-hit" finding at the same locus as Variant - ctDNA Small Variant (BRCA1) - see OMICS DSS Result Integration for the decision this grounds.

web

github.com

Standalone extraction of the intragenic-CNV Observation ( FBN1 exon deletion) from Bundle-ctdna9737383222-testresults , for individual reference - see OMICS DSS Result Integration for the LRI/FHIR/iGene mapping this example grounds.

web

github.com

Standalone extraction of the multi-gene-CNV Observation (Xq22.1-q28 deletion) from Bundle-ctdna9737383222-testresults , for individual reference - see OMICS DSS Result Integration for the LRI/FHIR/iGene mapping this example grounds.

web

github.com

Standalone extraction of the small-variant Observation ( BRCA1 deletion) from Bundle-ctdna9737383222-testresults , for individual reference - see OMICS DSS Result Integration for the LRI/FHIR/iGene mapping this example grounds.

web

github.com

Standalone extraction of the structural-variant Observation from Bundle-ctdna9737383222-testresults , for individual reference - see OMICS DSS Result Integration for the LRI/FHIR/iGene mapping this example grounds, including the open gap around iGene's own 81262-8 "Complex variant HGVS name" field, which this example does not populate.

web

en.wikipedia.org

In software design, these areas are often referred to as domains . The Genomic Diagnostic Workflow operates across several of these domains — in software architecture terms, this is known as a bounded context .

web

martinfowler.com

web

en.wikipedia.org

National NHS bodies (e.g. NHS England, PDS, ODS) and NHS Trusts are, in Domain Driven Design terms, natural bounded contexts in their own right, each with its own internal data model - this guide doesn't cover those models . Instead, this guide's resources reference that data via identifiers (in FHIR, Reference.identifier ), rather than modelling those bounded contexts directly.

web

martinfowler.com

web

www.enterpriseintegrationpatterns.com

The relationship between bounded contexts like these is what Enterprise Integration Patterns calls a Canonical Data Model , and what Data Engineering calls a Data Contract - in HL7 FHIR terms, that's expressed as FHIR Profiles and the core models described below.

web

en.wikipedia.org

Data Contract

web

github.com

Analogous to FHIR's own Patient Registry , but scoped to just Patient and RelatedPerson - this guide has no need for the generic Person / Group resources that page also shows. Patient references NHS England's Personal Demographics Service (PDS) - the UK's Master Patient Index (MPIP) - via the patient's NHS Number - see NHS Identifier . A local copy of Patient is still maintained, rather than resolving PDS on every use, because this guide also needs to support identifiers PDS itself doesn't carry - CHI (Scotland) and HSC/HSNI (Northern Ireland) numbers, and locally-assigned Medical Record Numbers - see NHS Identifier for how these are represented together. The Regional Integration Engine (RIE) performs the actual PDS check/enrichment - see Regional Integration Engine (RIE) - Order Process and Report Process .

web

github.com

web

github.com

As with the Patient Registry above, the RIE performs this check/enrichment against the live ODT API rather than every consuming system doing so individually - see Regional Integration Engine (RIE) - Order Process and Report Process .

web

github.com

web

martinfowler.com

ServiceRequest and DiagnosticReport are the two separate aggregates (in the Domain-Driven Design sense) this model is built around - each with its own extension mechanism.

web

github.com

Regional Integration Engine (RIE) , iGene Orders and Reports (Alder Hey, MFT, Liverpool) , Whole Genome Sequencing (Proposed - Alder Hey, MFT, Liverpool) , Histocompatibility and Immunogenetics (Clatterbridge to Histotrac)

web

github.com

web

github.com

web

github.com

web

github.com

Distributed WGS (dWGS) , StarLIMS / iGene Integration

web

github.com

Distributed WGS (dWGS) , StarLIMS / iGene Integration

web

github.com

Pathology to Genomics Reflex , Haemato-Oncology Diagnostic Pathway

web

github.com

Pathology to Genomics Reflex , Haemato-Oncology Diagnostic Pathway

web

github.com

OMICS DSS Result Integration , BCR-ABL Monitoring (Cepheid ASTM to iGene) , Cytogenetics and Haemato-Oncology Diagnostic Pathway

web

github.com

OMICS DSS Result Integration , BCR-ABL Monitoring (Cepheid ASTM to iGene) , Cytogenetics and Haemato-Oncology Diagnostic Pathway

web

github.com

OMICS DSS Result Integration , BCR-ABL Monitoring (Cepheid ASTM to iGene) , Cytogenetics and Haemato-Oncology Diagnostic Pathway

web

www.ihe.net

REF_I12 / ORU_R01 (or IHE 360X )

web

github.com

Not a closed loop at all - an aggregation , downstream of the closed loops above rather than a response to any of them: it collates one or more existing Laboratory Report(s) ( DiagnosticReport ) and their Test Results ( Observation s) into a single Composition -led document. See overview.md - Future Composition / Aggregated Laboratory Report .

web

github.com

ctDNA NHS England Unified Genomic Record (UGR) - Phase 2 , Regional Shared Care Records - Greater Manchester Care Record (GMCR) , Regional Shared Care Records - Lancashire and South Cumbria

web

github.com

ctDNA NHS England Unified Genomic Record (UGR) - Phase 2 , Regional Shared Care Records - Greater Manchester Care Record (GMCR) , Regional Shared Care Records - Lancashire and South Cumbria

web

github.com

ctDNA NHS England Unified Genomic Record (UGR) - Phase 2 , Regional Shared Care Records - Greater Manchester Care Record (GMCR) , Regional Shared Care Records - Lancashire and South Cumbria

web

github.com

Distributed WGS (dWGS) uses requisition slightly differently again - there, several sibling participants' sub-orders (Proband, Family Member(s)) each get their own new ServiceRequest , and all of them share one requisition value assigned by the Requesting Genomic Laboratory for the referral as a whole, rather than each one referencing back to a single parent order's own Filler Order Number.

web

www.enterpriseintegrationpatterns.com

This basic patten is the exchange of records via Document Messaging and is supported by a wide area of Messaging Patterns In NHS Trusts this is often supported by a Trust Integration Engine. This is the default option for HL7 v2 and in FHIR this is known as FHIR Messaging

web

www.enterpriseintegrationpatterns.com

web

digital.nhs.uk

See NHS England National Record Locator

web

en.wikipedia.org

Electronic Document Management (EDM) is a common practice for storing and sharing documents across healthcare systems and common formats for the documents are often PDF. In diagnostics this is not desirable and so instead a document format called Clinical Document Architecture (CDA) , in HL7 FHIR this is known as FHIR Document

web

wiki.ihe.net

This is described in IHE Sharing Laboratory Reports and HL7 Europe Laboratory Report . NHS England Pathology is based on this but uses Document Messaging ; the EU is likely to use Document Sharing .

web

digital.nhs.uk

See NHS England Multicast Notification Service API

web

profiles.ihe.net

See IHE Document Subscription for Mobile (DSUBm)

web

profiles.ihe.net

See Cross-Enterprise Document Workflow Content Profile (XDW)

web

www.enterpriseintegrationpatterns.com

See Conversation Patterns For a FHIR implementation see FHIR Worfklow

web

www.enterpriseintegrationpatterns.com

Prerequisite is Data Sharing and Resource Event Notifications , polling can be used as an interim measure if event notification infrastructure is not available.

web

open.epic.com

EPIC HL7 v2 See Outgoing Ancillary Orders (EPR to RIE)

web

ehr.meditech.com

MEDITECH HL7 v2

web

open.epic.com

EPIC HL7 v2 See Discrete Genomic Results (RIE to EPIC EPR)

web

profiles.ihe.net

IHE XDS Cross-Enterprise Document Sharing (XDS.b) or Cross-Enterprise Document Reliable Interchange (XDR) - Provide and Register Document Set-b [ITI-41]

web

profiles.ihe.net

IHE MHD Mobile access to Health Documents (MHD) - Simplified Publish [ITI-105]

web

profiles.ihe.net

CodeX HL7 FHIR Accelerator - GenomeX Data Exchange - Transport suggests sending a genomic FHIR Bundle - the equivalent of this guide's own Laboratory Report (Composition) , see Diagnostic Model Overview - Closed-Loop Referrals - embedded in, or referenced from, an ORU_R01 message: either the whole Bundle base64-encoded in an OBX , or an OBX-2 = RP (Reference Pointer) OBX whose OBX-5 is a URL the receiver retrieves the FHIR resource from - see OBX-2 Value Type below. This guide instead suggests MDM_T02 or IHE MHD Simplified Publish [ITI-105] for that same content, treating it as a document rather than a discrete result.

web

open.epic.com

EPIC Incoming Scanned Document Link Interface Technical Specification

web

www.ihe.net

IHE PCC 360X Closed Loop Referral PCC TF-2 3.55 to 3.59

web

drive.google.com

This is based on the definition of MSH from NHS England HL7 v2 ADT Message Specification .

web

drive.google.com

This is based on the definition of PID from NHS England HL7 v2 ADT Message Specification and Digital Health and Care Wales - HL7 ORU_R01 2.5.1 Implementation Guide

web

drive.google.com

This is based on the definition of PV1 from NHS England HL7 v2 ADT Message Specification

web

drive.google.com

This is based on the definition of PL from NHS England HL7 v2 ADT Message Specification SHOULD be followed and SHALL be used in PV1-3. In addition, this includes of PL.11 to hold organisation ODS code.

web

www.rcr.ac.uk

This is based on the definitions of NDL from Royal College of Radiologists

web

drive.google.com

Extended Composite ID Number and Name for Persons. The definition of XCN from NHS England HL7 v2 ADT Message Specification SHOULD be followed and SHALL be used in ORC-12.

web

drive.google.com

Extended Composite Name and Identification Number for Organizations. The definition of XON from NHS England HL7 v2 ADT Message Specification should be followed and SHALL be used in ORC-21.

web

github.com

North West Genomics HL7 v2 OML_O21

web

github.com

FHIR Message O21

web

github.com

Original Hl7 v2 OML_O21

web

github.com

North West Genomics HL7 v2 ORU_R01