Genomics Clinical Picture Repository Implementation Guide
0.1.0 - ci-build
Genomics Clinical Picture Repository Implementation Guide - Local Development build (v0.1.0). See the Directory of published versions
This page provides a list of the FHIR artifacts defined as part of this implementation guide.
These define constraints on FHIR resources for systems conforming to this implementation guide
| Biological Sex |
An observation that represents the biological sex of a patient. |
| Deidentified Patient |
A deidentified patient whose clinical picture is being stored in the repository. |
| Examination Finding |
An observation made by a clinician or patient that can be normal or abnormal. |
| Finding |
An observation about a patient that can be normal or abnormal and is expressed in a way that its action is reduced to a single concept (see pattern 3 in http://hl7.org/fhir/R4/observation.html#code-interop). |
| Genomics Clinical Picture Repository Encounter |
An encounter stored in the repository. |
| Genomics Clinical Picture Repository Research Study |
Captures information about a research study and groups encounters that where generated as part of the study. |
| Genomics Clinical Picture Repository Research Subject |
This resource represents a patient that is the subject of a research study. |
| Genomics Clinical Picture Repository Service Request |
Captues information about the genomic testing requested for a patient. |
| Imaging Finding |
An observation based on the result of an imaging study. |
| Laboratory Finding |
An observation based on the result of a laboratory test. |
| Sign |
A sign is a bodily feature of a patient observed by a clinician which is deemed to be of clinical relevance. It records a phenotype that is clinically abnormal. |
| Symptom |
A symptom is an observation made by the patient and is hypothesized to be a realization of a disease. |
These define sets of codes used by systems conforming to this implementation guide
| Abnormal Clinical Findings Value Set |
Abnormal clinical findings. |
| Biological Sexes Value Set |
SNOMED CT concepts for biological sex. |
| Encounter Class Value Set |
Classes of encounters captured in a genomics clinical picture FHIR repository. |
| Encounter Type Value Set |
Types of encounters captured in a genomics clinical picture FHIR repository. |
| Genomic Test Types Value Set |
Genomic test types, including research tests. |
| Lateralities Value Set |
Codes used to describe the laterality of a body structure. |
| Presence Value Set |
Presence / absence values from SNOMED CT. |
| Severity Value Set |
Codes used to describe the severity of a finding. |
| Test Interpretation Value Set |
Test interpretation values from SNOMED CT. |
These define new code systems used by systems conforming to this implementation guide
| Encounter Class |
Class of encounters captured in a genomics clinical picture FHIR repository. |
| Encounter Type |
Type of encounters captured in a genomics clinical picture FHIR repository. |
| Finding Type |
Extends the Observation Category codes to include additional categories. |
| Genomic Test Type |
Types of genomic tests not available in LOINC. |
| Identifier Type |
Types of identifiers used in a genomics clinical picture FHIR repository. |
| Mitochondrial Findings |
Mitochondrial-related findings that are not in HPO or SNOMED CT. |