The data source contains the following information

Disease information

Does the data source collect information with a focus on a specific disease? This might be a patient registry or other similar initiatives.

Yes

Disease details, other

Rare disease common data elements for all patients attending rare disease expert centers (Rémy Choquet, Meriem Maaroufi, Albane de Carrara, Claude Messiaen, Emmanuel Luigi, Paul Landais. A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research. J Am Med Inform Assoc. 2015 Jan;22(1):76-85.)

Rare diseases

Are rare diseases captured? In the European Union a rare disease is one that affects no more than 5 people in 10,000.

Yes

Pregnancy and/or neonates

Does the data source collect information on pregnant women and/or neonatal subpopulation (under 28 days of age)?

Yes

Hospital admission and/or discharge

Yes

ICU admission

Is information on intensive care unit admission available?

No

Cause of death

Captured

Cause of death vocabulary

ICD-10

Prescriptions of medicines

Captured

Prescriptions vocabulary

other

Dispensing of medicines

Not Captured

Advanced therapy medicinal products (ATMP)

Is information on advanced therapy medicinal products included? A medicinal product for human use that is either a gene therapy medicinal product, a somatic cell therapy product or a tissue engineered products as defined in Regulation (EC) No 1394/2007 [Reg (EC) No 1394/2007 Art 1(1)].

Yes

Contraception

Is information on the use of any type of contraception (oral, injectable, devices etc.) available?

No

Indication for use

Does the data source capture information on the therapeutic indication for the use of medicinal products?

Captured

Indication vocabulary

Other

Indication vocabulary, other

HPO, ORPHAcodes, ICD10 HGNC (if gene therapy)

Medical devices

Is information on medicinal devices (e.g., pens, syringes, inhalers) available?

No

Administration of vaccines

No

Procedures

Does the data source capture information on procedures (e.g., diagnostic tests, therapeutic, surgical interventions)?

Captured

Procedures vocabulary

Not coded (Free text)

Clinical measurements

Is information on clinical measurements (e.g., BMI, blood pressure, height) available?

No

Healthcare provider

Is information on the person providing healthcare (e.g., physician, pharmacist, specialist) available? The healthcare provider refers to individual health professionals or a health facility organisation licensed to provide health care diagnosis and treatment services including medication, surgery and medical devices.

Yes

Genetic data

Are data related to genotyping, genome sequencing available?

Captured

Genetic data vocabulary

HGNC

Biomarker data

Does the data source capture biomarker information? The term “biomarker” refers to a broad subcategory of medical signs ( objective indications of medical state observed from outside the patient), which can be measured accurately and reproducibly. For example, haematological assays, infectious disease markers or metabolomic biomarkers.

Captured

Biomarker data vocabulary

Other

Biomarker vocabulary, other

HPO

Patient-reported outcomes

Is information on patient-reported outcomes (e.g., quality of life) available?

No

Patient-generated data

Is patient-generated information (e.g., from wearable devices) available?

No

Units of healthcare utilisation

Are units of healthcare utilisation (e.g., number of visits to GP per year, number of hospital days) available or can they be derived? Units of healthcare utilisation refer to the quantification of the use of services for the purpose of preventing or curing health problems.

Yes

Unique identifier for persons

Are patients uniquely identified in the data source?

Yes

Diagnostic codes

Captured

Diagnosis / medical event vocabulary

Other

Diagnosis / medical event vocabulary, other

ORPHAcodes, HPO

Medicinal product information

Captured

Medicinal product information collected

Active ingredient(s)
Brand name

Medicinal product vocabulary

ART 57
Other

If 'other,' what vocabulary is used?

EMA Orphan drugs registry, Theriaque

Quality of life measurements

Not Captured

Lifestyle factors

Not Captured

Sociodemographic information

Captured

Sociodemographic information collected

Age
Country of origin
Gender
Other
Sex
Type of residency