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. SNOMED CT is preferred for Condition.code, though Genomic Test Directory codes MAY be used, where a SNOMED CT concept cannot be found, until the Test Directory is aligned to SNOMED CT.
Mapping
| ID | Source Data item | Target FHIR Element | HL7v2.5.1 Mapping | Description |
|---|---|---|---|---|
| PCI-1 | 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 |
| PCI-2 | 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. |
| PCI-4 | 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. |
| PCI-5 | Known/suspected disease | Condition.verificationStatus | DG1-6 | Disease a patient is believed, known to have, or be at risk of developing. |
| PCI-6 | Phenotypic details (Many) | Observation.code with HPO system | Additional OBX segments | The HPO (or alternative ontology as appropriate) term names for the observable disease traits. |
| PCI-7 | Symptoms at onset | Condition.evidence.code | Separate DG1 with DG1-17=S | The patient's symptoms at onset. |
| PCI-10 | 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. |
| PCI-11 | 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. |
| PCI-14 | Tumour sites - Body image diagram | DocumentReference | N/A - not in scope for HL7v2 | Image attachment of body with tumour sites highlighted. |
| PCI-15 | 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). |
| PCI-16 | 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. |
| PCI-17 | 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. |
| PCI-18 | 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. |
| PCI-21 | 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. |
| PCI-22 | 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. |
| PCI-23 | Expected maternity unit - Organisation name | TBC Future dated Encounter with referenced serviceProvider or referenced from EpisodeOfCare.managingOrganization (for pregnancy episode) | potentially PV1-42.4 | Requesting clinician's organisation name. |
| PCI-24 | Expected maternity unit - Organisation address | TBC Future dated Encounter with referenced serviceProvider or referenced from EpisodeOfCare.managingOrganization (for pregnancy episode) | PV1-42.7 | Requesting clinician's organisation address. |
| PCI-25 | Expected maternity unit - Organisation ODS code | TBC Future dated Encounter with referenced serviceProvider or referenced from EpisodeOfCare.managingOrganization (for pregnancy episode) | PV1-42.10 | Requesting clinician's organisation ODS code. |
| PCI-26 | Expected maternity unit - Department name | TBC Future dated Encounter with referenced serviceProvider or referenced from EpisodeOfCare.managingOrganization (for pregnancy episode) | PV1-42.9 | Requesting clinician's department name. |
| PCI-27 | Growth history | Observation resources for head circumference etc. | OBX segments | Summary passage of text to highlight patient centile history e.g head circumference, weight, etc. |
| PCI-28 | Severity of hearing loss | Condition.code with appropriate code under 15188001 or Condition.note with code 15188001 | DG1-3 | Free text regarding hearing loss |
| PCI-29 | Retinal degeneration | Condition.code with appropriate code under 95695004 or Condition.note with code 95695004 | DG1-3 | Free text regarding retinal degeneration |
| PCI-30 | 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. |
| PCI-31 | Suspected inborn error type(s) | Condition.code with code under 86095007 and verificationStatus provisional/unconfirmed | DG1-3 | Suspected inborn error type(s) |
| PCI-32 | Abnormal infection history site | TBC Condition.bodySite for relevant infection entries | TBC | Abnormal infection history Site |
| PCI-33 | Abnormal infection history site organism | TBC Condition.bodySite for relevant infection entries with reference to specific body structures | TBC | Abnormal infection history Site organism |
| PCI-34 | Is on Ig replacement | TBC Procedure.code with code 698802001 with status=in-progress | TBC | If the patient is on immunoglobin replacement treatment. |
| PCI-35 | Patient clinical information - Current and previous treatment detail | List of MedicationStatement/Procedure/Encounter resources if structured | TBC likely NTE segments as part of order | Detail regarding relevant current and previous medical treatments. |
| PCI-36 | Patient clinical information - Pregnancy status | Observation.code( subject=Patient, code=77386006 for pregnant / 60001007 for not pregnant) | OBX-5 with appropriate SNOMED/READ/LOINC code | Patient's pregnancy status. |
| PCI-37 | Patient clinical information - Pregnancy type | Inferred through presence of Procedure with codes under IUI/IVF (e.g. codes under 63487001) | OBR segments with appropriate codes (Order Prior) | Type of conception. |
| PCI-38 | Patient clinical information - Pregnancy gestation period | Observation.component.valueDuration with code for gestation | OBX-14 (subtracted from ORC-9) | Patient's term of active pregnancy at point of test request. |
| PCI-39 | Patient clinical information - Fetal gestation | As above, though could be inferred through difference between Observation.effectiveDateTime for pregnancy and Procedure.performedDateTime for termination | OBX-14 (subtracted from OBR-7 for termination procedure) | Stage during patient pregnancy at which it terminated. |
| PCI-40 | Patient clinical information - Estimated Delivery Date (EDD) | As above, though could be inferred through Observation.effectiveDateTime for pregnancy + 40 weeks or new observation with code 161714006 | OBX-14 + 40 weeks | Patient's estimated delivery date. |
| PCI-41 | Patient clinical information - IVF age of egg donor | TBC Observation referencing IVF procedure (through partOf) with code = 433475001 (if category of over 35 is sufficient, otherwise code.display of "IVF age of egg donor") | OBR segments with appropriate codes (Order Prior) | The age of the patient who donated the egg at the time of donation. |
| PCI-42 | Patient clinical information - Had transplant | Inferred through presence of Procedure( subject=Patient ) with code under 77465005 - Transplantation, alternatively, Observation with code 416128008 with valueCodeableConcept=263903005 for no history of transplant | Presence of OBR segment with OBR-44 code for transplant (Order Prior)) | Has the patient ever had a transplant. |
| PCI-43 | Patient clinical information - Type of transplant | Procedure.code( subject=Patient, code= code under 77465005 ) | OBR-44 (Order Prior) | What type of transplant the patient had. (Bone marrow / Stem cell) |
| PCI-44 | Patient clinical information - Transplant date | Procedure.performedDateTime( subject=Patient ) | OBR-7 | When the patient had the transplant. |
| PCI-45 | Patient clinical information - Had transfusion in the last 6 weeks | Inferred through presence of Procedure( subject=Patient ) with code under 5447007 - Transfusion, with performedDateTime within 6 weeks of the ServiceRequest being submitted, alternatively, Observation with code 416128008 with valueCodeableConcept=303955003 for no history of transfusion | Presence of OBR segment with OBR-44 code for transplant (Order Prior) | Has the patient had a transfusion in the last 6 weeks. |
| PCI-46 | Patient clinical information - Type of transfusion | Procedure.code( subject=Patient, code= code under 5447007 ) | OBR-7 (Order Prior) | What type of transfusion the patient has had. (Packed Red Cells /Plasma / Platelets) |
| PCI-47 | Patient clinical information - Transfusion date | Procedure.performedDateTime( subject=Patient ) | OBR-7 (Order Prior) | When the patient had the transfusion. |
| PCI-48 | Patient clinical information - Height (m) | Observation.valueQuantity( code=54871000237100, subject=Patient) | OBX-5 | Patient's height. |