Table 3.

Implementation of common data elements of the EU Rare Disease platform.

Common data element	Data items	ARCA/ERN-RND registry
Pseudonym	Patient's pseudonym	✓
Personal information	Date of birth	(✓)*
	Sex at birth	✓
Patient status	Alive or dead	✓
	Date of death	✓
Care pathway	First contact with specialized center	✓
Disease history	Age at onset of first symptoms/signs	✓
	Age at diagnosis or first consultation	✓
Diagnosis	Diagnosis of rare disease in Orpha code	✓
	Genetic diagnosis in HGVS	✓
	Undiagnosed case in HPO terms	✓
Research	Agreement to be contacted for research	✓
	Consent to reuse data for other research	✓
	Biological sample available	✓
	Link to biobank where biosample is stored	✓
Disability	Classification of functioning/disability	✓

^*Restricted to year of birth.