ORPHAcodes for rare diseases

Frequently asked questions

• Do you have to record the ORPHAcode for every visit?

  You should record the ORPHAcode for each visit during which the patient has been treated because of the rare disease in question or with special attention to it. When the ORPHAcode has been recorded, it is easy to record it again for the following visits.

• Do I have to use the ORPHAcode if an exact ICD-10 code already exists for the disease (e.g. achondroplasia)?

  An ORPHAcode must also be recorded for the patient in these cases because the aim is to enable all rare disease patients to be found with ORPHAcodes.

• How is the ORPHAcode recorded when the patient clearly has a rare disease (e.g. a young person with retinal degeneration) but there is no exact diagnosis yet? Can recording the ORPHAcode be postponed in that case?

  It is essential that the patient is given a specific Orpha code at some point. When the diagnostics is still under way, you can use the ORPHAcode indicated by the main group of the disease. It can be found in the Excel file presenting the rare diseases of the Orphanet database by group of disorder, available on this page.

• How do you record a patient with a strong suspicion of a rare disease, but no possibility to establish a diagnosis (e.g. intellectual disability + syndrome)?

  In the end, a large proportion of rare diseases remain without an exact diagnosis. In that case, use the ORPHAcode indicated by the main group or subtype of the disease, which can be found in the Excel file presenting the rare diseases of the Orphanet database by groups of disorders, available on this page.

• The patient has a rare disease (e.g. Coffin-Siris syndrome), which can be caused by mutations in many different genes. Can I use the ORPHAcode for the syndrome in question regardless of the gene in the background?

  With many diseases, it has been discovered that their background is genetically heterogenous, meaning that the disease is caused by several genes. On the other hand, some rare diseases do not have any known genetic cause. Orpha coding of rare diseases is therefore based on the phenotype. The ORPHAcode can be used regardless of the gene-level diagnosis. The Orphanet database has the details of the genes causing each phenotype and the correct phenotype code can also be searched for on the browser by using the name of the gene.

• Which ORPHAcode is used for a patient who has an undiagnosed rare disease for which it is not possible to determine a specific diagnosis despite extensive investigations?

  You can use the following code: ORPHA:616874. However, Orphanet recommends that the use of this code be restricted to the centres of expertise for the disorder group in question. Please note: ORPHAcodes are based on clinical phenotypes. E.g. Meckel syndrome (ORPHA:564) is genetically heterogeneous, meaning that mutations of several different genes may be in the background. If it is not possible to determine the mutation background (no verification for the disease diagnosis at the gene level), but the patient’s symptoms are consistent with Meckel syndrome, you should use the ORPHAcode for Meckel syndrome and not the above-mentioned ORPHAcode for a disorder without a determined diagnosis.

• Can an ORPHAcode be used if the patient’s phenotype is consistent with a certain disease (e.g. neurofibromatosis type 1), but a gene mutation consistent with the diagnosis cannot be found?

  ORPHAcodes have been drawn up on the basis of phenotypes. The techniques used in gene diagnostics cannot always find the mutation causing the disease even if the phenotype is typical from the clinician’s perspective and the diagnosis therefore seems “certain”. An exact ORPHAcode can very well be used in such a situation.

• Can a wrongly recorded ORPHAcode be removed later?

  For the time being, only HUS has begun to use ORPHAcodes and Apotti enables you to remove a previously recorded wrong ORPHAcode, for example, in connection with the following visit. This is explained in the user instructions for Apotti under “ORPHA-koodien kirjaaminen Apottiin” [“Recording of ORPHAcodes in Apotti”]. When new diseases are described, new codes are also created in the Orphanet database, where necessary. At the same time, the use of an old code may be discontinued, for example, when the code is split into several codes. Specialised medical care units can therefore change and/or remove the codes. In Finland, ORPHAcodes are updated to the Code server once a year.

• What should I do if I do not manage to record the code found in the list of ORPHAcodes in the medical records system?

  If you are unable to record the code in the system, you can contact THL’s National coordination of rare diseases. You will find the contact details on the project website.