Genomics informatics — Phenopackets: A format for phenotypic data exchange
This document specifies a uniform, machine-readable, phenotypic description of an individual, patient or sample in the context of rare disease, common/complex disease or cancer.
Contents
About this standard
- Publisher
- ISO/TC215
- Reference code
- ISO 4454:2022
- Publication date
- 1 January 2022
- Status
- Active
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Proposed. New standards suggested to address unmet need(s), but further exploratory work is required.
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Withdrawn. Standards that have been withdrawn from any development and approval process.
- Standard type
- Information standards
Show definitions of standard types
Collections. A Collection is a systematic gathering of a specified selection of data or information for a particular stated purpose from existing records held within health and care systems and electronic devices.
Extractions. An extraction is a type of collection that is pulled from an operational system by the data controller and transmitted to the receiver without additional processing or transcription by the sender.
Information standards. Information standards are agreed ways of doing something, written down as a set of precise criteria so they can be used as rules, guidelines, or definitions.
Technical Standards and specifications. Technical standards and specifications specify how to make information available technically including how the data is structured and transported.
- Contact point
https://www.iso.org/committee/54960.html
Link to standard
- Documentation
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- Applies to
- Vendors
- Devices Industry
- Research
- Pharma
- Diagnostics
- Clinicians
- Healthcare Administrators and Organizations
- Impacts on
- Person or provider digital health systems; Health information structure, content, meaning; Formal identification of health information;
Topics and care settings
- Topic
- Health
- International Standards
Review Information
- Scope
- ISO Interoperability Category: Syntactic ISO Area / Topic: Genomics; Electronic Health Record; Patient; Personalized Digital Health
- Registration status
ISO - standard
- Registration authority
ISO
More information
This document specifies a uniform, machine-readable, phenotypic description of an individual, patient or sample in the context of rare disease, common/complex disease or cancer. It is applicable to academic, clinical and commercial research, as well as clinical diagnostics. While intended for human data collection, it can be used in other areas (e.g. mouse research). It does not define the phenotypic information that needs to be collected for a particular use but represents that information in an appropriately descriptive manner that allows it to be computationally exchanged between systems.
Page last updated: 01 December 2025