FHIR Implementation GuideΒΆ

Phenopackets on FHIR is a FHIR implementation guide based on the Phenopackets standard. It is meant to be conceptually equivalent but not directly interoperable. The guide is hosted at:

https://aehrc.github.io/fhir-phenopackets-ig/

Briefly, the phenopacket equivalents to various FHIR resources are as follows:

Age is mapped to the FHIR using Unified Code for Units of Measure (UCUM). See also Condition onset.

Biosample maps to Specimen.

Evidence maps to Condition.evidence.

ExternalReference maps to Reference.

Individual maps to Patient.

OntologyClass maps to CodeableConcept. See also Coding.

PhenotypicFeature maps to Condition or Observation elements. The FHIR mapping of the type element of PhenotypicFeature is Condition.identifier, the mapping of the severity element is Condition.severity, the mapping of onset is Condition.onset.

Procedure maps to Procedure.

Sex maps to AdministrativeGender.

Resource maps to CodeSystem.