Table 1 The European Platform for Rare Disease Registration set of Common Data Elements that should be made available by all rare disease registries
Element ID | Name | Values |
|---|---|---|
1.1 | Pseudonym | String |
2.1 | Date of birth | dd/mm/yyyy |
2.2 | Sex | Female, Male, Undetermined, Foetus (Unknown) |
3.1 | Patient Status | Alive, Dead, Lost in Follow-up, Opted-out |
3.2 | Date of Death | dd/mm/yyyy |
4.1 | First contact with specialized centre | dd/mm/yyyy |
5.1 | Age at onset | Antenatal, At Birth, Date (dd/mm/yyyy), Undetermined. |
5.2 | Age at diagnosis | Antenatal, At Birth, Date, Undetermined |
6.1 | Diagnosis of the rare disease | ORPHA Code, Alpha Code, ICD9/10 Code, ICD9-CM Code |
6.2 | Genetic Diagnosis | Human Genome Variant Sequence (HGVS), HUGO Gene Nomenclature Committee (HGNC), Online Medelian Inheritance in Man (OMIIM) Codes |
6.3 | Undiagnosed case | Human Phenotype Ontology code and/or HGVS Code related to the inability to diagnose. |
7.1 | Agreement to be contacted for research purposes | Yes/No |
7.2 | Consent to reuse data | Yes/No |
7.3 | Biological Sample? | Yes/No |
7.4 | Biobank? | URL/No |
8.1 | Disability Classification via International Classification of Functioning and Disability (ICF) | Score |