Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia

Table 3 Proposed data set for the Slovenian PRDR

Data set categories and their content
1. Personal data: UMCN; name/surname; gender; place of birth
2. Vital status: alive (Y/N); date and time of death
3. Healthcare institution (of registration): name; department; date of first contact; date of registration; name of physician
4. Diagnostic codes (main diagnosis): OrphaCODE; ICD-10 code
5. Characteristics (main diagnosis): description of the diagnosis; date of diagnosis; confirmed (Y/N); age at diagnosis; time of first signs/symptoms (year/antenatal/at birth/ND)
6. Other diagnoses (all to be listed): ICD-10 code; description
7. Genetic characteristics and biological material: HGNC code; HGVS code; OMIM number; type of biological material available; biobank name
8. Functionality/Disability scores: result according to the ICF classification
9. Therapeutic data: any orphan drugs (according to the EMA list)

List of abbreviations: EMA European medicines agency, HGNC The HUGO Gene Nomenclature Committee, HGVS Human Genome Variation Society, ICD-10 International Classification of Diseases 10th Revision, ICF International classification of functioning, diseases and health, N No, ND Not determined, OMIM Online Mendelian Inheritance in Man, UMCN Unique Master Citizen Number, Y Yes

ISSN: 1750-1172