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 1.0.0-ballot 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

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Official URL: http://hl7.org/fhir/uv/phenomics-exchange/ImplementationGuide/hl7.fhir.uv.phenomics-exchange				Version: 1.0.0-ballot
IG Standards status: Draft Draft as of 2025-12-15			Maturity Level: 0	Computable Name: PhenomicsExchange
Copyright/Legal: HL7

Phenomics Exchange for Research and Diagnostics FHIR R4 Implementation Guide

This implementation guide addresses the need for a structured, granular, and extensible representation of an individual's phenotypes. Such information is critical for use cases such as rare and undiagnosed diseases, and precision medicine. However, it is frequently lacking in EHRs or is represented in a difficult to access form such as PDFs, free text, or brief and non standard entries in order forms.

The IG also addresses the need for exchanging this information between the clinical and research domains, and to facilitate the integration of structured data in existing research data models and bioinformatics tools

The IG is still in an exploratory phase and is being balloted at comment-level ballot. The goal is to obtain feedback and form a community to prepare for a future STU publication. This IG, given that it is a comment level ballot, will not be published during this ballot cycle.

Dependencies

Cross Version Analysis

This is an R4 IG. None of the features it uses are changed in R4B, so it can be used as is with R4B systems. Packages for both R4 (hl7.fhir.uv.phenomics-exchange.r4) and R4B (hl7.fhir.uv.phenomics-exchange.r4b) are available.

Global Profiles

There are no Global profiles defined

IP Statements

This publication includes IP covered under the following statements.

• HL7
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  • Temporary phenotype component codes: ObservationPhenotype
• This material contains content from LOINC. LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc.
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  • LOINC: Observation/phenotype-1