Version: 1.0.1 | Published: 1 Dec 2025 | Updated: 45 days ago
Genomics informatics — Phenopackets: A format for phenotypic data exchange
Dataset
Summary
Reference Code:
ISO 4454:2022
Type:
Information standards
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:
- Health
- International Standards
Publication Date:
01 January 2022
Contact Point
Contact Point:
Documentation
Description:
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.
Documentation Link:
Review & Status
Scope:
ISO Interoperability Category: Syntactic ISO Area / Topic: Genomics; Electronic
Health Record; Patient; Personalized Digital Health
Technical Committee:
SC1
Mandated:
No
Status:
active
Registration
Registration Status:
ISO - standard
Registration Authority:
ISO
Origin
Name:
NHSE-SD Data Catalogue