Version: 1.0.1 | Published: 1 Dec 2025 | Updated: 2 days ago
Genomics informatics — Phenopackets: A format for phenotypic data exchange
Dataset
Summary
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
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:
Origin
Name:
NHSE-SD Data Catalogue