Rare diseases

This quality standard covers diagnosing, managing and treating rare diseases in children, young people and adults. It describes high-quality care in priority areas for improvement.

Rare diseases are conditions that affect less than 1 in 2,000 people as defined by the UK Rare Diseases Framework.

This quality standard was developed by a rare disease project group following discussions in the UK Rare Diseases Forum and supports achievement of the England Rare Diseases Action Plan 2025.

While data collection supports some of the quality statements, most will require bespoke data collection. The project group highlighted that the quality standard could serve as a catalyst for better data collection and more consistent monitoring.

Last reviewed: 27 February 2026

How to use NICE quality standards and how we develop them

Quality standards help you improve the quality of care you provide or commission. They apply in England and Wales (see the UK government website and Welsh government website). Decisions on how they apply in Scotland and Northern Ireland are made by ministers in the Scottish government and Northern Ireland Executive.

Find out how to use quality standards and how we develop them.