Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
Patient Clinical Information
Purpose
To know known/suspected disease including status and traits to support testing and interpretation. Further details which may support testing and interpretation including the family history of a disease.
Notes
Mapped to Condition and Observation resources linked to the patient. The primary condition, being tested for SHOULD be referenced via ServiceRequest.reasonReference, additional relevant conditions SHOULD be referenced via ServiceRequest.supportingInfo.
Mapping
| Source Data item | Target FHIR Element | HL7v2.5.1 Mapping | Description |
|---|---|---|---|
| Genomic ethnicity | Observation.valueString( code=723621000000103 ) | OBX-5 | Patient's ethnicity where 'Patient - Ethnicity field' doesn't provide an adequate description. E.g Ashkenazi Jewish |
| Disease status | Condition.clinicalStatus, Condition.verificationStatus (Needs mapping to MDS enums) | Potentially mapped to DG1-17 | If the patient is affected, uncertain, unaffected, or it is unknown. |
| Date of diagnosis | Condition.recordedDate | DG1-5 | The patient's date of diagnosis. |
| Age at disease onset | Condition.onsetAge | PRB-16, note not included within OML message | The age when a change in patients' health was first noted in line with suspected diagnosis. |
| Known/suspected disease | Condition.verificationStatus | DG1-6 | Disease a patient is believed, known to have, or be at risk of developing. |
| Phenotypic details (Many) | Condition.code with HPO system | Additional DG1 segments (DG1-3) | The HPO (or alternative ontology as appropriate) term names for the observable disease traits. |
| Symptoms at onset | Condition.evidence.code | Separate DG1 with DG1-17=S | The patient's symptoms at onset. |
| Disease penetrance | Observation.code = 86426007 or 87006007 | OBX segments with appropriate SNOMED CT codes | Confirms if all individuals with a disease show clinical symptoms or if there are carriers who do not. |
| Has multiple tumours | Inferred through multiple Condition.bodySite entries | Multiple DG1 segments (bodySite for condition not in scope for HL7v2) | Does the patient have multiple tumours. |
| Count of tumours | Inferred through number of Condition/Condition.bodysite entries for tumours | Multiple DG1 segments (bodySite for condition not in scope for HL7v2) | How many tumours the patient has. |
| Site of tumour (many) | codes used for Condition.bodysite entries | Multiple DG1 segments (bodySite for condition not in scope for HL7v2) | Location of the tumours on the body. |
| Solid tumour type | Specific Condition.code e.g. child concepts of 128462008 for metastatic tumours | DG1-3 | The patient's solid tumour type. |
| Liquid tumour type | Specific Condition.code, e.g. 91861009 for AML | DG1-3 | The patient's liquid tumour type. |
| Tumour sites - Body image diagram | Media TBC | N/A - not in scope for HL7v2 | Image attachment of body with tumour sites highlighted. |
| Pedigree details / Relevant family history | FamilyMemberHistory referenced from ServiceRequest.supportingInfo, optionally referenced from Condition.evidence.detail | N/A not in scope for HL7v2, could be added as additional DG1 segments related to relatives (representation of family history in HL7v2 still pending investigation) | The patient's pedigree details/diagram (inc family history of cancer). |
| Pedigree diagram | Media referenced from ServiceRequest.supportingInfo, optionally referenced from Condition.evidence.detail | N/A not in scope for HL7v2, could be added as additional DG1 segments related to relatives (representation of family history in HL7v2 still pending investigation) | Image attachment of pedigree details. |
| Laterality of hearing loss | Specific Condition.code under Hearing loss e.g. 473424007 | DG1-2 | Laterality of the hearing loss i.e. bilateral or unilateral. |
| Fetal maternal screening genotype | Presence of Condition.code with appropriate code for Fetal Maternal Screening Genotype (as identified in ConceptMap) attached to Maternal Patient resource | DG1-3 | Maternal screening genotype for haemoglobinopathy testing. |
| Is patient on TKI therapy | Presence of in-progress Procedure with code 1237262009 for Receptor tyrosine-protein kinase erbB-2 inhibitor therapy (procedure) | OBR-44 | If the patient is on tyrosine kinase inhibitor therapy. |
| Is patient in treatment free remission | Condition.clinicalStatus = remission | N/A, for non OML messages PRB-14 | If the patient in treatment free remission. |
| Legal considerations | TBC Needs more specificity to properly model, likely Consent resources attached to ServiceRequest | TBC possibly DG1-18 | Legal considerations for a given request. |
| Fetal paternal screening genotype | Presence of Condition.code with appropriate code for Fetal Maternal Screening Genotype (as identified in ConceptMap) attached to Paternal Patient resource | DG1-3 | Paternal screening genotype for haemoglobinopathy testing. |
| Expected maternity unit - Organisation name | TBC Future dated Encounter with referenced serviceProvider | potentially PV1-42.4 | Requesting clinician's organisation name. |
| Expected maternity unit - Organisation address | TBC Future dated Encounter with referenced serviceProvider | PV1-42.7 | Requesting clinician's organisation address. |
| Expected maternity unit - Organisation ODS code | TBC Future dated Encounter with referenced serviceProvider | PV1-42.10 | Requesting clinician's organisation ODS code. |
| Expected maternity unit - Department name | TBC Future dated Encounter with referenced serviceProvider | PV1-42.9 | Requesting clinician's department name. |
| Growth history | TBC Observation resources for head circumference etc. | OBX segments | Summary passage of text to highlight patient centile history e.g head circumference, weight, etc. |
| Severity of hearing loss | Condition.code with appropriate code under 15188001 or Condition.note with code 15188001 | DG1-3 | Free text regarding hearing loss |
| Retinal degeneration | Condition.code with appropriate code under 95695004 or Condition.note with code 95695004 | DG1-3 | Free text regarding retinal degeneration |
| Risk factors | MedicationStatement resources with certain codes TBC | OBX segments detailing patient on medication etc. | Toxic medication - Prematurity (risk factor for hearing loss) e.g. Baby early birth - Ototoxic medication. |
| Suspected inborn error type(s) | Condition.code with code under 86095007 and verificationStatus provisional/unconfirmed | DG1-3 | Suspected inborn error type(s) |
| Abnormal infection history site | TBC Condition.bodySite for relevant infection entries | TBC | Abnormal infection history Site |
| Abnormal infection history site organism | TBC Condition.bodySite for relevant infection entries with reference to specific body structures | TBC | Abnormal infection history Site organism |
| Is on Ig replacement | TBC Procedure.code with code 698802001 with status=in-progress | TBC | If the patient is on immunoglobin replacement treatment. |