Patient Clinical Presentation

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

Mapping

Source Data item Target FHIR Element HL7v2.5.1 Mapping Description
Further clinical information Linked Condition/Observation resources Linked PRB/OBR segments Clinical information which has not been captured elsewhere.
Further non clinical information. ServiceRequest.note NTE segments in OML message Non-clinical information which has not been captured elsewhere.
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
Tumour sites - Body image diagram TBC Media TBC N/A - not in scope for HL7v2 Image attachment of body with tumour sites highlighted.
Has multiple primary tumours TBC Inferred through multiple Condition.bodySite entries Multiple PRB 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 PRB segments (bodySite for condition not in scope for HL7v2) How many tumours the patient has.
Site of tumour (many) Condition.bodysite entries Multiple PRB segments (bodySite for condition not in scope for HL7v2) Location of the tumours on the body.
Known/suspected disease Condition.verificationStatus PRB-13 Disease a patient is believed, known to have, or be at risk of developing.
Date of diagnosis Condition.recordedDate PRB-7 The patient's date of diagnosis.
Disease status Condition.clinicalStatus PRB-14 If the patient is affected, unaffected, or it is unknown.
Phenotypic details (Many) Condition.code with HPO system Additional PRB segments (PRB-3) The HPO (or alternative ontology as appropriate) term names for the observable disease traits.
Date of disease onset Condition.onsetDateTime PRB-16 The date when a change in patients health was first noted in line with suspected diagnosis.
Pedigree details/diagram Condition.evidence.detail( reference( FamilyMemberHistory, Media ) ) N/A not in scope for HL7v2, could be added as additional PRB segments related to relatives The patient's pedigree details/diagram (inc family history of cancer).
Disease penetrance Inferred through Condition.evidence.detail( reference( FamilyMemberHistory.condition ) ) elements for each individual PRB segments related to relatives, though PRB-12 could be used Confirms if all individuals with a disease show clinical symptoms or if there are carriers who do not.
Solid tumour type Specific Condition.code e.g. child concepts of 128462008 for metastatic tumours PRB-3 The patient's solid tumour type.
Liquid tumour type Specific Condition.code, e.g. 91861009 for AML PRB-3 The patient's liquid tumour type.
Laterality of hearing loss Specific Condition.code under Hearing loss e.g. 473424007 PRB-3 Laterality of the hearing loss i.e. bilateral or unilateral.
Fetal maternal screening genotype Presence of Condition.code 62621000119107 for Fetal hemoglobinopathy (disorder) PRB-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 PRB-14 If the patient in treatment free remission.
Legal considerations TBC Needs more specificity to properly model TBC Legal considerations for a given request.
Symptoms at onset Condition.evidence.code OBX segments attached to PRB The patient's symptoms at onset.
ISTH BAT score Observation.valueQuantity (note: no SNOMED code currently exists for the ISTH-BAT tool so this will need to be coded as text within Observation.code) OBX-5 Bleeding score - high bleeding score is associated with the presence of an inherited bleeding disorder
Fetal paternal screening genotype Condition.code 80141007 for Hemoglobinopathy (disorder) attached to paternal Patient resource (or associated carrier code) PRB-3 Paternal screening genotype for haemoglobinopathy testing.
Expected maternity unit - Organisation name TBC Future dated Encounter with referenced serviceProvider ROL segment attached to PV1 Requesting clinician's organisation name.
Expected maternity unit - Organisation address TBC Future dated Encounter with referenced serviceProvider ROL segment attached to PV1 Requesting clinician's organisation address.
Expected maternity unit - Organisation ODS code TBC Future dated Encounter with referenced serviceProvider ROL segment attached to PV1 Requesting clinician's organisation ODS code.
Expected maternity unit - Department name TBC Future dated Encounter with referenced serviceProvider ROL segment attached to PV1 Requesting clinician's department name.
MODY probability calculator score Observation with code under 609561005 for Maturity-onset diabetes of the young (disorder) OBX-5 Exeter's diabetic risk calculator
Insulin treated within 6 months of diagnosis Presence of Procedure with appropriate Insulin Therapy code with performed[x] within six months of the ServiceRequest.authoredOn date OBR-44 Has the patient been treated for insulin within the last 6 months of diagnosis.
Diagnosis during pregnancy Overlap of Condition.recordedDate with Observation.effectivePeriod for pregnancy PRB segment overlapping OBC for pregnancy Was the patient diagnosed during pregnancy
Patient BMI at time of genomic test request Observation with code 60621009 for Body mass index (observable entity) with effectiveDateTime same as ServiceRequest.authoredOn OBX-5 Patient BMI at time of genomic test request
Patient BMI at time of diagnosis Observation with code 60621009 with effectiveDateTime same Condition.recordedDate OBX-5 Patient BMI at time of diagnosis
Maternal BMI at time of request Observation with code 60621009 attached to maternal Patient resource with effectiveDateTime same as ServiceRequest.authoredOn OBX-5 Maternal body mass index at time of request.
Paternal BMI at time of request Observation with code 60621009 attached to paternal Patient resource with effectiveDateTime same as ServiceRequest.authoredOn OBX-5 Paternal body mass index at time of request.
Initial therapy: Insulin subtype - Units per dose First MedicationStatement.dosage.doseAndRate.doseQuantity with appropriate medicationCodeableConcept for Insulin RXA-6 Initial therapy: Insulin subtype - Units per dose
Initial therapy: Insulin subtype - Frequency First MedicationStatement.dosage.timing.repeat with appropriate medicationCodeableConcept for Insulin RXA-12 Initial therapy: Insulin subtype - Frequency
Initial therapy: Insulin subtype - Oral hypoglycemic agents (OHA) subtype units per dose First MedicationStatement.dosage.doseAndRate.doseQuantity with appropriate medicationCodeableConcept for Insulin OHA (codes under 420100005) RXA-6 Initial therapy: Insulin subtype - Oral hypoglycemic agents (OHA) subtype units per dose
Initial therapy: Insulin subtype - Oral hypoglycemic agents (OHA) subtype frequency First MedicationStatement.dosage.timing.repeat with appropriate medicationCodeableConcept for Insulin OHA (codes under 420100005) RXA-12 Initial therapy: Insulin subtype - Oral hypoglycemic agents (OHA) subtype frequency
Current therapy: Insulin subtype - Units per dose MedicationStatement.dosage.doseAndRate.doseQuantity with appropriate medicationCodeableConcept for Insulin RXA-6 Current therapy: Insulin subtype - Units per dose
Current therapy: Insulin subtype - Frequency MedicationStatement.dosage.timing.repeat with appropriate medicationCodeableConcept for Insulin RXA-12 Current therapy: Insulin subtype - Frequency
Current therapy: Insulin subtype - Oral hypoglycaemic agents (OHA) subtype units per dose MedicationStatement.dosage.doseAndRate.doseQuantity with appropriate medicationCodeableConcept for Insulin OHA (codes under 420100005) RXA-6 Current therapy: Insulin subtype - Oral hypoglycaemic agents (OHA) subtype units per dose
Current therapy: Insulin subtype - Oral hypoglycaemic agents (OHA) subtype frequency MedicationStatement.dosage.timing.repeat with appropriate medicationCodeableConcept for Insulin OHA (codes under 420100005) RXA-12 Current therapy: Insulin subtype - Oral hypoglycemic agents (OHA) subtype frequency
Neonatal hypoglycemia treatment details Procedure/MedicationStatement with appropriate code for treatment and reasonCode=52767006 OBR/RXA segments Newborn hypoglycemia treatment details.
Neonatal hypoglycemia treatment start date Procedure.performedPeriod.start / MedicationStatement.effectivePeriod.start OBR-7 Newborn hypoglycemia treatment start date.
Neonatal hypoglycemia treatment end date Procedure.performedPeriod.end / MedicationStatement.effectivePeriod.end OBR-8 Newborn hypoglycemia treatment end date.
Birth weight Observation with code 364589006 OBX-5 Weight at birth in grams.
Diabetic complications Observation/Condition resources referencing original Diabetes Condition OBX/PRB segments Diabetic complications
Insulin dose at presentation MedicationStatement.dosage.doseAndRate.doseQuantity with appropriate medicationCodeableConcept for Insulin and effectivePeriod overlapping Encounter date RXA-6 Insulin dose at presentation (U/kg/day)
Insulin dose at time of genomic test request MedicationStatement.dosage.doseAndRate.doseQuantity with appropriate medicationCodeableConcept for Insulin and effectivePeriod overlapping ServiceRequest.authoredOn date RXA-6 Insulin dose at time of request (U/kg/day)
Is diabetes in remission Inferred through Condition.clinicalStatus for Diabetes Has patient's diabetes gone into remission.
Date of diabetes remission Either inferred though history of changes to Condition resource or Condition.note NTE segment attached to PRB Date patient's diabetes went into remission.
Is diabetes in relapse Inferred through Condition.clinicalStatus for Diabetes PRB-14 Has patient's diabetes relapsed.
Date of diabetes relapse Either inferred though history of changes to Condition resource or Condition.note Date of diabetes relapse.
Current exocrine pancreatic treatment Procedure/MedicationStatement for Conditions with exocrine/pancreatic codes OBR/RXA segments Is patient on exocrine pancreatic treatment.
Exocrine pancreatic treatment start date MedicationStatement.effectiveDateTime or Procedure.performedDateTime RXA-3 Date exocrine pancreatic treatment started.
Thyroid gland state Condition.code with SNOMED code for issue PRB-3 State of thyroid gland.
Pituitary tumour type Condition.code with appropriate SNOMED code under 127024001 PRB-3 Pituitary tumour type
Pancreatic tumour type Condition.code with appropriate SNOMED code under 126859007 PRB-3 Pancreatic tumour type
Phaeochromocytoma Condition.bodySite, with appropriate Condition.code under SNOMED code 302835009 Not in scope for HL7v2 Phaeochromocytoma laterality
Paraganglioma location Condition.bodySite, with appropriate Condition.code under SNOMED code 302833002 Not in scope for HL7v2 Paraganglioma location
Duration of hyperinsulism Difference between Condition.onsetDateTime and abatementDataTime for code 83469008 PRB-9 - PRB-16 Duration of hyperinsulism
Current treatment Set of MedicationStatement.medicationCodeableConcepts with effectivePeriod overlapping current time or status active RXA-5 What is their current treatment to understand responsiveness.
Current treatment dose with units MedicationStatement.dosage for treatment RXA-6 Dose with units
Had response to current treatment MedicationStatement.note (could include observations/condition resources to infer response but this may be difficult to interpret NTE attached to RXA Had response to current treatment
Name of other medications tried Additional MedicationStatement resources RXA segments Name of other medications tried
Duration other medications tried MedicationStatement.effectivePeriod RXA-3 Duration other medications tried
Subcutaneous fat loss areas Observation.bodySite with code 248316006 or child concepts of 248316006 OBX-5 Subcutaneous fat loss from:
Increased fat deposition areas Observation.bodySite with code 248313003 Not in scope for HL7v2 Increased fat deposition location
Has absent reflexes Observation with code 37280007 OBX-5 Has absent reflexes
Absent reflexes detail Observation with child code under 37280007 OBX-5 Absent reflexes detail
Progeroid features Condition.code with code 1216939003 or 1220589007 PRB-3 Progeroid features
Severity of hearing loss Condition.code with appropriate code under 15188001 or Condition.note with code 15188001 PRB-3 Free text regarding hearing loss
Retinal degeneration Condition.code with appropriate code under 95695004 or Condition.note with code 95695004 PRB-3 Free text regarding retinal degeneration
Risk factors MedicationStatement resources with certain codes TBC RXA-5 Toxic medication - Prematurity (risk factor for hearing loss) e.g. Baby early birth - Ototoxic medication.
Hepatic vs neurological presentation Condition.code with either Hepatic or Neurological SNOMED codes Outcome of either Hepatic or Neurological.
Suspected inborn error type(s) Condition.code with code under 86095007 and verificationStatus provisional/unconfirmed PRB-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.