ORPHAcodes for rare diseases implemented in the Apotti system
ORPHAcodes are used to record detailed information on rare diseases in patient information systems. Orphanet has exact codes for more than 6,000 diseases, whereas the currently used ICD-10 classification of diseases has only approximately 350 such codes for rare diseases. This has severely limited the identification of persons with a rare disease in healthcare registers. An estimated 300,000 patients in Finland have a rare disease.
Implementation of ORPHAcodes in the patient information system brings HUS and Apotti to the forefront of development. “As far as we know, we are only the third hospital in the world, the second in the Nordic countries and the first one in Finland to implement these codes,” says Mikko Seppänen, Docent and Head Physician at HUS Rare Diseases Center.
Rare disease codes improve patient safety
The use of ORPHAcodes improves the patient’s treatment. “A patient who has been given a specific rare disease diagnosis can be contacted if the patient appears to need additional examinations or whenever new forms of treatment have been found for the disease,” says Seppänen.
The implementation of the codes in the Apotti system has been accomplished by adding ORPHAcodes as supplementary codes for patients’ diagnoses. Such exact coding of rare disease will then be available whenever a professional views or handles patient's diagnoses. Recording of structured ORPHAcodes into the system will among other things enable further development of solutions and alerts for critical care instructions and knowledge-based management in rare diseases difficult to recognize and acutely manage.
“Correctly timed and targeted care instructions help to improve the quality of the treatment and patient safety of patients with rare diseases. ORPHAcodes can also be made part of the entries concerning the patient’s visit or episode of care on the ward. This information can then be forwarded to the national Patient Data Repository, where it will be available to other parties treating the patient,” says Business Manager Jaana Sten from Apotti.
Aiming at national implementation
The implementation of the ORPHAcodes in Finland is one of the most important objectives of the National Programme for Rare Diseases. “HUS and Apotti are the first to start using the ORPHAcodes in Finland and also further suppliers of patient information systems are preparing to implement the codes in their systems,” says Senior Medical Officer Satu Wedenoja from THL.
The codes can be implemented into electronic patient information systems through THL, alongside the ICD-10 code. Wedenoja says that THL’s Care Register for Health Care (Hilmo) will also have a separate field for the ORPHAcode from June 2023 onward. These will enable collection of recorded ORPHAcodes and accompanying data at the national level.
If future, when the codes are in national use, it will be possible to monitor how equal are diagnostics, monitoring, and treatment of patients with rare diseases across the country, and whether any areas need special attention.
“Researchers in turn will be able to study even rare diseases at the population level and for example through biobanks and find and recruit patients while studying disease mechanisms and potential targets for treatment,” says Seppänen.
What is a rare disease?
- A disease is defined as rare when it affects no more than one in 2,000. Most rare diseases are much rarer than this.
- There are an estimated 300,000 patients with a rare disease in Finland.
- A total of 8,000–10,000 rare diseases have now been identified and new ones are constantly discovered.
- All European Reference Networks for Rare and Complex Diseases currently have representatives from Finland. These ERN networks participate in the continuous development of the ORPHAcodes.
Contacts
Further information:
Mikko Seppänen, Head Physician, HUS mikko.seppanen@hus.fi, +358 50 4279606
Satu Wedenoja, Senior Medical Officer, THL satu.wedenoja@thl.fi +358 29 5248305
thl.fi/harvinaiset (in Finnish and Swedish)
About HUS
At HUS Helsinki University Hospital about 680 000 patients receive medical care annually. We have almost 27,000 professionals working for the best of all patients. We are responsible for organizing specialized healthcare in the Uusimaa region. In addition, the treatment of many rare and severe diseases is nationally centralized to HUS.
HUS is the biggest health care provider. Our expertise is internationally recognized and accredited. As a university hospital, we continuously develop and evaluate our treatment methods and activities.
Subscribe to releases from HUS
Subscribe to all the latest releases from HUS by registering your e-mail address below. You can unsubscribe at any time.
Latest releases from HUS
Legionellabakteeria löytynyt Hyvinkään sairaalan hanavedestä - yhtään infektiota ei ole todettu18.4.2024 16:37:03 EEST | Tiedote
Hyvinkään sairaalan synnytysosaston vesihanoista otetuista näytteistä on omaseurannassa löytynyt toimenpiderajat ylittävä määrä legionellabakteeria. Synnytyssaleja on käytössä yksi vähemmän kuin normaalisti. Muutoin synnytystoiminta jatkuu normaalisti. Löydöksiin ei liity yhtään legionellan aiheuttamaa infektiota.
Distansmottagning även för barn – Nylands Jourhjälp utvidgar sina tjänster17.4.2024 07:15:00 EEST | Tiedote
Nylands Jourhjälp erbjuder från och med den 19 april 2024 möjlighet till distansmottagning även för barnsjukdomar. Läkaren kan i fortsättning träffa barnet och föräldrarna via videosamtal. Orsaken till den utökade tjänsten är dokumenterad erfarenhet av hög kundnöjdhet för distansmottagningen och högklassiga vårdresultat.
Lapsetkin pääsevät etävastaanotolle – Uudenmaan Päivystysapu laajentaa palveluaan17.4.2024 07:15:00 EEST | Tiedote
Uudenmaan Päivystysavussa tarjotaan etävastaanottomahdollisuutta 19.4.2024 alkaen myös lasten sairauksiin. Lääkäri voi tavata lapsen ja hänen vanhempansa jatkossa videon välityksellä. Palvelun laajentamisen taustalla ovat näytöt etävastaanottojen korkeasta asiakastyytyväisyydestä ja laadukkaista hoitotuloksista.
Children will be able to access remote appointments: Medical Helpline in Uusimaa expands its service17.4.2024 07:15:00 EEST | Press release
The Medical Helpline in Uusimaa will offer remote appointments for children’s illnesses as well starting April 19, 2024. A doctor can hold a remote video consultation with the child and parent. The service expansion is supported by evidence of high client satisfaction and excellent treatment outcomes in remote appointments.
Sockervärdena hos barn med diabetes kan hållas under kontroll med en smartpump11.4.2024 12:02:08 EEST | Tiedote
En självreglerande insulinpump håller sockervärdena hos barn med diabetes stabila, till och med på samma nivå som hos friska barn.
In our pressroom you can read all our latest releases, find our press contacts, images, documents and other relevant information about us.
Visit our pressroom