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CodeSystem-Genomics-mds-questiontag.json
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847 lines (847 loc) · 28 KB
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{
"resourceType": "CodeSystem",
"id": "mds-questiontag-genomics",
"url": "https://fhir.nhs.uk/CodeSystem/mds-questiontag-genomics",
"version": "0.1.1",
"name": "MDSQuestionTagGenomics",
"title": "MDS Question Tag Genomics",
"status": "draft",
"date": "2025-12-15T00:00:00.000Z",
"publisher": "NHS England",
"contact": [
{
"name": "NHS England",
"telecom": [
{
"system": "email",
"value": "interoperabilityteam@nhs.net"
}
]
}
],
"description": "A set of codes used to map MDS Dataset to FHIR Resources.This is intended to be used on Resource.meta.tag.",
"copyright": "Copyright © 2025+ NHS England Licensed under the Apache License, Version 2.0 (the \\\"License\\\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \\\"AS IS\\\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html.",
"caseSensitive": true,
"hierarchyMeaning": "grouped-by",
"content": "complete",
"concept": [
{
"code": "datagroup-healthcare-professional",
"display": "Healthcare Professional",
"definition": "Data group - Healthcare professional",
"concept": [
{
"code": "HCP-1",
"display": "HCP - Genomic test order role",
"definition": "HCP's function within the genomic test ordering process"
},
{
"code": "HCP-2",
"display": "HCP - First name",
"definition": "HCP's first name."
},
{
"code": "HCP-13",
"display": "HCP - surname",
"definition": "HCP'surname "
},
{
"code": "HCP-3",
"display": "HCP - Job title",
"definition": "HCP's job title."
},
{
"code": "HCP-4",
"display": "HCP - Current specialty",
"definition": "HCP's current specialty."
},
{
"code": "HCP-5",
"display": "HCP - Telephone number",
"definition": "HCP's telephone number."
},
{
"code": "HCP-6",
"display": "HCP - Email address",
"definition": "HCP's email address."
},
{
"code": "HCP-7",
"display": "HCP - Organisation name",
"definition": "HCP's requesting organisation name."
},
{
"code": "HCP-9",
"display": "HCP - Organisation ODS code",
"definition": "HCP's organisation ODS code"
},
{
"code": "HCP-10",
"display": "HCP - Department name",
"definition": "HCP's department name."
},
{
"code": "HCP-11",
"display": "HCP - Professional registration number",
"definition": "HCP's professional registration number such as their GMC number."
},
{
"code": "HCP-12",
"display": "HCP - Professional registration number type",
"definition": "HCP's professional registration number type such as 'GMC'."
}
]
},
{
"code": "datagroup-patient",
"display": "Patient",
"definition": "Data group - Patient",
"concept": [
{
"code": "P-1",
"display": "Patient - Title",
"definition": "Patient's title."
},
{
"code": "P-2",
"display": "Patient - First name",
"definition": "Patient's first name."
},
{
"code": "P-40",
"display": "Patient - Middlename",
"definition": "Patient's middle name."
},
{
"code": "P-3",
"display": "Patient - Surname",
"definition": "Patient's last name."
},
{
"code": "P-41",
"display": "Patient - Name use",
"definition": "Links each patient name entry to confirm if current, previous or what the patient is known as."
},
{
"code": "P-4",
"display": "Patient - Date of birth",
"definition": "Patient's date of birth."
},
{
"code": "P-6",
"display": "Patient - Postcode",
"definition": "Patient's home postcode."
},
{
"code": "P-7",
"display": "Patient - Country of residence",
"definition": "Patient's home country."
},
{
"code": "P-9",
"display": "Patient - Ethnicity",
"definition": "Patient's ethnicity."
},
{
"code": "P-10",
"display": "Patient - Sex defined at birth",
"definition": "Patient's phenotypic sex classification as defined at birth based on physical characteristic."
},
{
"code": "P-12",
"display": "Patient - GP practice's ODS Code",
"definition": "Patient's GP practice ODS code."
},
{
"code": "P-13",
"display": "Patient - Is from consanguineous union",
"definition": "The fact of the patient's biological parents being descended from the same ancestor."
},
{
"code": "P-15",
"display": "Patient - NHS number",
"definition": "Patient's NHS number."
},
{
"code": "P-16",
"display": "Patient - Local identifier",
"definition": "Patient's identification code other than NHS number."
},
{
"code": "P-42",
"display": "Patient - ODS code of organisation which assigned local identifier",
"definition": "ODS code of the organisation which assigned the local identifier P-16."
},
{
"code": "P-17",
"display": "Patient - Reason for unavailable NHS number",
"definition": "Reason for an NHS number not being provided."
},
{
"code": "P-18",
"display": "Patient - Relationship to proband",
"definition": "This patient's relationship to the primary patient."
},
{
"code": "P-19",
"display": "Patient - Gender Identity",
"definition": "Patient's stated gender, determined by the patient."
},
{
"code": "P-20",
"display": "Patient - Deceased date",
"definition": "Patient's date of death."
},
{
"code": "P-21",
"display": "Patient - Chromosomal sex",
"definition": "Patient's genomic / karyotypic characteristic. Determined by genomic testing."
},
{
"code": "P-35",
"display": "Patient - Withheld identity reason",
"definition": "Confirmation why the patient is withholding identity details."
},
{
"code": "P-37",
"display": "Patient - Local Pedigree / Family identifier",
"definition": "Patient's pedigree or family identifying id."
},
{
"code": "P-39",
"display": "Patient - Reason for inclusion in genomic test request",
"definition": "Reason patient has been included in genomic test request, such as to support proband testing or providing own genomic reporting"
}
]
},
{
"code": "datagroup-fetus",
"display": "Fetus",
"definition": "Data group - Fetus",
"concept": [
{
"code": "F-1",
"display": "Fetus - Local identifier",
"definition": "Fetus' identification code other than NHS number."
},
{
"code": "F-7",
"display": "Fetus - ODS code of organisation which assigned local identifier",
"definition": "ODS code of the organisation which assigned the local identifier F-1."
},
{
"code": "F-2",
"display": "Fetus - Observed sex",
"definition": "Fetus' phenotypic sex classification. Estimated physical characteristic. Currently determined by ultrasound. Gender for PLCM."
},
{
"code": "F-3",
"display": "Fetus - Chromosomal sex",
"definition": "Fetus' genomic / karyotypic characteristic. Determined by genomic testing."
},
{
"code": "F-6",
"display": "Fetus - Life status at time of request",
"definition": "Fetus' alive or deceased status details at the point of test ordering."
},
{
"code": "F-8",
"display": "Fetus - Pregnancy id",
"definition": "The id of a given pregnancy which this fetus belongs to."
}
]
},
{
"code": "datagroup-test-request",
"display": "Test Request",
"definition": "Data group - Test Request",
"concept": [
{
"code": "TR-2",
"display": "Test Request - Payment status",
"definition": "How the test request is funded"
},
{
"code": "TR-4",
"display": "Test Request - Requesting reason rare disease",
"definition": "The reason for a rare disease genomic test."
},
{
"code": "TR-38",
"display": "Test Request - Requesting reason cancer",
"definition": "The reason for a cancer genomic test."
},
{
"code": "TR-5",
"display": "Test Request - High level test identifier",
"definition": "Legacy high level ids which identify the requested test. Options provided by old Test Directory."
},
{
"code": "TR-6",
"display": "Test Request - High level test identifier description",
"definition": "Legacy high level name of the id requested"
},
{
"code": "TR-7",
"display": "Test Request - Low level test identifier",
"definition": "The low level CITT code which identifies the requested test. Options provided by Test Directory (TEST IDENTIFIER OR TEST CODE)."
},
{
"code": "TR-8",
"display": "Test Request - Low level test identifier description",
"definition": "The low level CITT name of the considered test."
},
{
"code": "TR-9",
"display": "Test Request - Low level multipurpose test identifier",
"definition": "The low level code which identifies the test to be actioned when the CITT code is multipurpose (CLINICAL INDICATION)."
},
{
"code": "TR-10",
"display": "Test Request - Low level multipurpose test identifier description",
"definition": "The low level name of the test to be actioned when the CITT code is multipurpose."
},
{
"code": "TR-21",
"display": "Test Request - Genomic package id",
"definition": "Id of the package requested."
},
{
"code": "TR-22",
"display": "Test Request - Genomic package name",
"definition": "Name of the package requested."
},
{
"code": "TR-23",
"display": "Test Request - Genomic package version",
"definition": "Version of the package requested."
},
{
"code": "TR-24",
"display": "Test Request - Genomic test id",
"definition": "Id of the test requested."
},
{
"code": "TR-25",
"display": "Test Request - Genomic test name",
"definition": "Name of the test requested."
},
{
"code": "TR-26",
"display": "Test Request - Genomic test version",
"definition": "Version of the test requested."
},
{
"code": "TR-27",
"display": "Test Request - Additional panels",
"definition": "Additional panels to test."
},
{
"code": "TR-28",
"display": "Test request - Target type",
"definition": "Type of target to test."
},
{
"code": "TR-29",
"display": "Test request - Target detail",
"definition": "Detail of target to test."
},
{
"code": "TR-11",
"display": "Test Request - Count of patients to be tested",
"definition": "Count of patients to be tested including the proband/primary patient."
},
{
"code": "TR-12",
"display": "Test Request - Urgency reason",
"definition": "The test request urgency reason."
},
{
"code": "TR-13",
"display": "Test Request - Reanalysis reason",
"definition": "The reason reanalysis has been requested."
},
{
"code": "TR-14",
"display": "Test Request - Detail of reason for request",
"definition": "Further detail associated to the reason reanalysis has been requested."
},
{
"code": "TR-15",
"display": "Test Request - Type of reanalysis",
"definition": "The type of reanalysis which has been requested."
},
{
"code": "TR-17",
"display": "Test Request - Is urgent",
"definition": "Confirmation if the test request is urgent."
},
{
"code": "TR-35",
"display": "Test Request - Purpose of linking",
"definition": "The reason a given test request has been linked to another test request."
},
{
"code": "TR-36",
"display": "Test Request - Central email address for reporting",
"definition": "Central email address for contingency in the event of not being able to obtain a report via the requester."
},
{
"code": "TR-20",
"display": "Test Request - Genomic report delivery method",
"definition": "Test Request - Genomic report delivery method"
},
{
"code": "TR-30",
"display": "Test Request - Add private genomic request and report to NHS record",
"definition": "Confirmation if the content of a private genomic test request should be added to an NHS record."
},
{
"code": "TR-31",
"display": "Test Request - Test request form version",
"definition": "Version of the test order form completed and submitted."
},
{
"code": "TR-32",
"display": "Test Request - File / Link to file",
"definition": "Upload of a file or a link to a file for adding documents such as previous genomic reports to a test order."
},
{
"code": "TR-33",
"display": "Test Request - File detail",
"definition": "Detail to provide context to an uploaded file or document link."
},
{
"code": "TR-34",
"display": "Test Request - Clinical utility",
"definition": "Clinical benefit to patient of obtaining a requested genomic report."
},
{
"code": "TR-39",
"display": "Test Request - Linked test request reference",
"definition": "The reference to any associated test requests"
}
]
},
{
"code": "datagroup-ngrl-consent",
"display": "NGRL-consent",
"definition": "Data group - NGRL consent",
"concept": [
{
"code": "NGRL-1",
"display": "NGRL consent - Date of NGRL consent",
"definition": "The date NGRL consent was provided."
},
{
"code": "NGRL-2",
"display": "NGRL consent - Patient has made their own choice to consent to the NGRL",
"definition": "Confirmation if the patient to be tested has provided NGRL consent themselves."
},
{
"code": "NGRL-3",
"display": "NGRL consent - Patient representative name (if patient cannot make their own choice)",
"definition": "The name of the patient representative."
},
{
"code": "NGRL-4",
"display": "NGRL consent - I confirm that the patient (or their representative) agree to have their genomic and healthcare data used for research",
"definition": "The outcome of the patient or their representative’s choice in consenting to including their data used for research in the NGRL."
},
{
"code": "NGRL-5",
"display": "NGRL consent - NGRL consent document link",
"definition":"A URL where a copy of a completed NGRL consent form may be found."
}
]
},
{
"code": "datagroup-primary-sample",
"display": "Primary Sample",
"definition": "Data group - Primary Sample",
"concept": [
{
"code": "PS-2",
"display": "Primary Sample - Local identifier",
"definition": "Local ids applied to a sample"
},
{
"code": "PS-3",
"display": "Primary Sample - ODS code of organisation which assigned local id",
"definition": "ODS code of the organisation which assigned the local sample id."
},
{
"code": "PS-10",
"display": "Primary Sample - Obtained date",
"definition": "Date at which a specimen/biopsy was obtained from patient."
},
{
"code": "PS-11",
"display": "Primary Sample - Primary sample",
"definition": "The primary sample material."
},
{
"code": "PS-12",
"display": "Primary Sample - Primary sample state",
"definition": "The state of the primary sample."
},
{
"code": "PS-25",
"display": "Primary Sample - Preservative/Container",
"definition": "How the primary sample is preserved."
},
{
"code": "PS-30",
"display": "Primary Sample - Block identifier",
"definition": "Sample block identifier"
},
{
"code": "PS-31",
"display": "Primary Sample - Fixative type",
"definition": "Sample fixative type"
},
{
"code": "PS-32",
"display": "Primary Sample - Hours to fixation",
"definition": "Sample hours to fixation"
},
{
"code": "PS-33",
"display": "Primary Sample - Hours in fixative",
"definition": "Sample hours in fixative"
},
{
"code": "PS-34",
"display": "Primary Sample - Tumour enrichment method",
"definition": "Method used for tumour enrichment."
},
{
"code": "PS-13",
"display": "Primary Sample - Necrosis",
"definition": "% necrotic (dead) cells in primary sample."
},
{
"code": "PS-14",
"display": "Primary Sample - Nucleated cell count",
"definition": "Nucleated (with nucleous) cell (non tumour and tumour) count in the primary sample (Solid Tumour and Haem-Onc)."
},
{
"code": "PS-15",
"display": "Primary Sample - Tumour nuclear content in whole section",
"definition": "Neoplastic (tumour) cell content in the primary sample whole section(Solid Tumour) - sourced at local lab. (%)"
},
{
"code": "PS-26",
"display": "Primary Sample - Tumour nuclear content in marked area",
"definition": "Neoplastic (tumour) cell content in the primary sample marked area(Solid Tumour) - sourced at local lab. (%)"
},
{
"code": "PS-17",
"display": "Primary Sample - Solid tumour morphology",
"definition": "The histology and likely course of development of a tumour."
},
{
"code": "PS-18",
"display": "Primary Sample - Solid tumour topography",
"definition": "The tumour sample site. e.g. from colon, stomach etc."
},
{
"code": "PS-29",
"display": "Primary Sample - Is biopsy",
"definition": "Primary Sample - Is biopsy"
},
{
"code": "PS-19",
"display": "Primary Sample - Biopsy site",
"definition": "Digital confirmation that the sample is a biopsy."
},
{
"code": "PS-21",
"display": "Primary Sample - Observed maternal cell contamination (MCC)",
"definition": "An observed outcome which may indicate MCC"
},
{
"code": "PS-27",
"display": "Primary Sample - Test confirmed maternal cell contamination (MCC)",
"definition": "Analytically confirmed MCC levels"
},
{
"code": "PS-22",
"display": "Primary Sample - Option for all products of conception",
"definition": "Primary Sample - Option for all products of conception"
},
{
"code": "PS-23",
"display": "Primary Sample - Blasts %",
"definition": "Future management for products of conception."
},
{
"code": "PS-24",
"display": "Primary Sample - High infection risk reason",
"definition": "The high contamination risk reason for a primary sample."
},
{
"code": "PS-28",
"display": "Primary Sample - Patient life status at the time of collection",
"definition": "If the patient was alive or deceased at the point of collecting a sample."
},
{
"code": "PS-35",
"display": "Primary Sample - Solid tumour type",
"definition": "The origin or context of a tumour sample."
}
]
},
{
"code": "datagroup-patient-clinical-information",
"display": "Patient Clinical Information",
"definition": "Data group - Patient Clinical Information",
"concept": [
{
"code": "PCI-1",
"display": "Patient clinical information - Genomic Ethnicity",
"definition": "Patient's ethnicity where 'Patient - Ethnicity field' doesn't provide an adequate description. E.g Ashkenazi Jewish"
},
{
"code": "PCI-2",
"display": "Patient clinical information - Disease Status",
"definition": "If the patient is affected, unaffected, or it is unknown."
},
{
"code": "PCI-4",
"display": "Patient clinical information - Age at disease onset",
"definition": "The age when a change in patients' health was first noted in line with suspected diagnosis."
},
{
"code": "PCI-5",
"display": "Patient clinical information - Known/Suspected Disease",
"definition": "Disease a patient is believed, known to have, or be at risk of developing."
},
{
"code": "PCI-6",
"display": "Patient clinical information - Phenotypic details",
"definition": "The HPO (or alternative ontology as appropriate) term names for the observable disease traits."
},
{
"code": "PCI-7",
"display": "Patient clinical information - Symptoms",
"definition": "The patient's symptoms"
},
{
"code": "PCI-10",
"display": "Patient clinical information - Count of tumours",
"definition": "How many tumours the patient has."
},
{
"code": "PCI-11",
"display": "Patient clinical information - Site of tumour",
"definition": "Location of the tumours on the body."
},
{
"code": "PCI-14",
"display": "Patient clinical information - Tumour sites - Body image diagram",
"definition": "Image attachment of body with tumour sites highlighted."
},
{
"code": "PCI-15",
"display": "Patient clinical information - Pedigree details / Relevant family history",
"definition": "The patient's pedigree/family history details (inc family history of cancer)."
},
{
"code": "PCI-16",
"display": "Patient clinical information - Pedigree diagram",
"definition": "Image attachment of pedigree details"
},
{
"code": "PCI-17",
"display": "Patient clinical information - Laterality of hearing loss",
"definition": "Laterality of the hearing loss i.e. bilateral or unilateral."
},
{
"code": "PCI-18",
"display": "Patient clinical information - Fetal haemoglobinopathy maternal screening genotype",
"definition": "Maternal screening genotype for haemoglobinopathy testing."
},
{
"code": "PCI-21",
"display": "Patient clinical information - Legal considerations",
"definition": "Legal considerations for a given request."
},
{
"code": "PCI-22",
"display": "Patient clinical information - Fetal haemoglobinopathy paternal screening genotype",
"definition": "Paternal screening genotype for haemoglobinopathy testing"
},
{
"code": "PCI-23",
"display": "Patient clinical information - Expected Maternity Unit - Organisation name",
"definition": "Requesting clinician's organisation name."
},
{
"code": "PCI-24",
"display": "Patient clinical information - Expected Maternity Unit - Organisation address",
"definition": "Requesting clinician's organisation address."
},
{
"code": "PCI-25",
"display": "Patient clinical information - Expected Maternity Unit - Organisation ODS code",
"definition": "Requesting clinician's organisation ODS code."
},
{
"code": "PCI-26",
"display": "Patient clinical information - Expected Maternity Unit - Department name",
"definition": "Requesting clinician's department name."
},
{
"code": "PCI-27",
"display": "Patient clinical information - Growth history",
"definition": "Summary passage of text to highlight patient centile history e.g. head circumference, weight, etc."
},
{
"code": "PCI-28",
"display": "Patient clinical information - Severity of hearing loss",
"definition": "Free text regarding hearing loss"
},
{
"code": "PCI-29",
"display": "Patient clinical information - Retinal degeneration",
"definition": "Free text regarding retinal degeneration"
},
{
"code": "PCI-30",
"display": "Patient clinical information - Risk factors",
"definition": "Toxic medication - Prematurity (risk factor for hearing loss) e.g. Baby early birth - Ototoxic medication."
},
{
"code": "PCI-31",
"display": "Patient clinical information - Suspected inborn error type(s)",
"definition": "Suspected inborn error type(s)"
},
{
"code": "PCI-32",
"display": "Patient clinical information - Abnormal infection history site",
"definition": "Abnormal infection history site organism"
},
{
"code": "PCI-33",
"display": "Patient clinical information - Abnormal infection history site organism",
"definition": "Abnormal infection history site organism"
},
{
"code": "PCI-34",
"display": "Is on ig replacement",
"definition": "If the patient is on immunoglobin replacement treatment."
},
{
"code": "PCI-35",
"display": "Patient clinical information - Current and previous treatment detail",
"definition": "Detail regarding relevant current and previous medical treatments."
},
{
"code": "PCI-36",
"display": "Patient clinical information - Pregnancy status",
"definition": "Patient`s pregnancy status"
},
{
"code": "PCI-37",
"display": "Patient clinical information - Pregnancy type",
"definition": "Type of conception"
},
{
"code": "PCI-38",
"display": "Patient clinical information - Pregnancy gestation period",
"definition": "Patient's term of active pregnancy at point of test request."
},
{
"code": "PCI-39",
"display": "Patient clinical information - Fetal gestation",
"definition": "Stage during patient pregnancy at which it terminated."
},
{
"code": "PCI-40",
"display": "Patient clinical information - Estimated delivery date (EDD)",
"definition": "Patient's estimated delivery date."
},
{
"code": "PCI-41",
"display": "Patient clinical information - IVF age of egg donor",
"definition": "The age of the patient who donated the egg at the time of donation."
},
{
"code": "PCI-42",
"display": "Patient clinical information - Had transplant",
"definition": "Has the patient ever had a transplant."
},
{
"code": "PCI-43",
"display": "Patient clinical information - Type of transplant",
"definition": "What type of transplant the patient had."
},
{
"code": "PCI-44",
"display": "Patient clinical information - Transplant date",
"definition": "When the patient had the transplant."
},
{
"code": "PCI-45",
"display": "Patient clinical information - Had transfusion in the last 6 weeks",
"definition": "Has the patient had a transfusion in the last 6 weeks."
},
{
"code": "PCI-46",
"display": "Patient clinical information - Type of transfusion",
"definition": "What type of transfusion the patient has had."
},
{
"code": "PCI-47",
"display": "Patient clinical information - Transfusion date",
"definition": "When the patient had the transfusion."
},
{
"code": "PCI-48",
"display": "Patient clinical information - Height (m)",
"definition": "Patient's height."
}
]
},
{
"code": "datagroup-miscellaneous",
"display": "Miscellaneous",
"definition": "Data group - Miscellaneous",
"concept": [
{
"code": "MIS-1",
"display": "Further supporting information",
"definition": "Supporting information which has not been captured elsewhere."
}
]
},
{
"code": "datagroup-hospital-encounter",
"display": "Hospital encounter",
"definition": "Data group - Hospital encounter",
"concept": [
{
"code": "HE-1",
"display": "Treatment function code (TFC)",
"definition": "The identifier for the clinical specialty or service under which the patient is being treated."
},
{
"code": "HE-2",
"display": "Hospital provider spell identifier",
"definition": "The identifier for the patient's continuous period of care in a hospital provider setting, from admission to discharge."
},
{
"code": "HE-3",
"display": "Outpatient attendance identifier",
"definition": "The identifier for the patient's specific outpatient appointment at which the genomic test may have been ordered."
},
{
"code": "HE-4",
"display": "Hospital point of delivery code",
"definition": "The identifier that defines the type of care setting in which the genomic test was requested."
}
]
}
]
}