Phenomics Exchange for Research and Diagnostics
0.1.0 - ci-build International flag

Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

Example Observation: An INVALID phenotypic abnormality Observation example.

Generated Narrative: Observation

ResourceObservation "phenotypic-abnormality-invalid-1"

status: final

code: Intellectual disability (Human Phenotype Ontology#HP:0001249)

value: true

component

code: Severity (Human Phenotype Ontology#HP:0012824)

value: Mild (Human Phenotype Ontology#HP:0012825)

component

code: Severity (Human Phenotype Ontology#HP:0012824)

value: Mild (Human Phenotype Ontology#HP:0012825)

component

code: Clinical modifier (Human Phenotype Ontology#HP:0012823)

value: Worse in evening (Human Phenotype Ontology#HP:0410401)

component

code: Clinical modifier (Human Phenotype Ontology#HP:0012823)

value: Refractory (Human Phenotype Ontology#HP:0031375)

component

code: Clinical modifier (Human Phenotype Ontology#HP:0012823)

value: Non existant modifier (Human Phenotype Ontology#HP:999999999)

component

code: Onset (Human Phenotype Ontology#HP:0003674)

value: Congenital onset (Human Phenotype Ontology#HP:0003577)

component

code: Onset (Human Phenotype Ontology#HP:0003674)

value: 0 Day (Details: system codeDay = 'Day')

component

code: Severity (OTHER#OTHER)

value: Mild (OTHER#OTHERTHING)