Portugal's Rare-Disease Registry Adds 155 Conditions in 2025, Reaching 594 Codified Diseases
The DGS added 155 rare diseases to its national coding system in 2025 — the biggest annual jump yet — bringing the registry to 594 recognised conditions and widening the safety net for patients.
Portugal added 155 rare diseases to its national coding system in 2025, the largest single-year expansion in more than a decade and a step that quietly widens the safety net for thousands of patients whose conditions are so uncommon that many doctors will never see a single case.
The figures come from the Directorate-General for Health (Direção-Geral da Saúde, DGS), which runs the Rare Disease Person's Card (Cartão da Pessoa com Doença Rara, CPDR). With the 2025 additions, the registry now recognises 594 distinct rare diseases — a 13.2% jump on the previous year. Since the system was created in 2014, Portugal has identified 1,627 different rare conditions in total.
Why coding matters
A rare disease, under the European definition, is one that affects no more than five people in every 10,000. Individually they are obscure; collectively they are not, and an estimated several hundred thousand people in Portugal live with one. The problem for patients has long been recognition: without a formal code, a condition is effectively invisible to the health system, making it harder to track cases, plan services or ensure a patient's history travels with them between hospitals.
Portugal codes its rare diseases using the ORPHA nomenclature maintained by Orphanet, the European reference portal. Each new code allows the SNS (Serviço Nacional de Saúde, the National Health Service) to link a diagnosis to a card that flags the condition to any clinician treating the patient — particularly useful in an emergency, when a doctor unfamiliar with a rare disorder needs to know instantly what they are dealing with.
More cards, more centres
The number of cards issued is climbing steadily. In 2025, health services handed out 1,803 Rare Disease Cards, up from 1,593 the year before, bringing the cumulative total since 2014 to 12,784. The cards were issued by 34 institutions across the country, though the work remains concentrated: seven Local Health Units (Unidades Locais de Saúde) and three branches of the Portuguese Institute of Oncology (Instituto Português de Oncologia) accounted for 77.3% of all requests, reflecting their role as reference centres for complex diagnoses.
The most frequently registered conditions in both 2024 and 2025 were sickle-cell anaemia and retinitis pigmentosa, an inherited eye disease that gradually erodes vision.
What it means for residents
For anyone living in Portugal with a rare condition — residents and foreign nationals alike — the card is worth knowing about. It is issued through the treating specialist and gives emergency and primary-care teams rapid access to relevant clinical information, supporting what the DGS describes as more personalised and safer care. As the registry grows, more conditions become eligible, and patients previously left without a recognised code stand to gain formal status within the system.
The expansion also feeds Portugal's contribution to European rare-disease networks, where shared coding lets small national caseloads be pooled into research cohorts large enough to study — a rare instance where bureaucratic tidiness translates directly into better odds for the people it counts.
