For the 10th International Congress on Shwachman Diamond Syndrome (SDS) in April 2023 in Cambridge, England, we produced this poster. ICF is an important tool to identify daily life of people with SDS.
In 2022, the Shwachman Support Holland Foundation and Rare Care World developed ICF-questionnaires for a number of rare disorders, including SDS (Shwachman Diamond Syndrome). An article about this appeared in 'Ieder(In)' in August 2023. The readers who responded to the article and wanted to participate in a follow-up study on...
From first feature to rare disease co-management with LOINC
Liesbeth Siderius
Foundation Rare Care Word & Foundation Shwachman Diamond Syndrome Support Holland
Marc de Graauw
magrit.nl
We developed a data model using common coding standards such as LOINC, ICD, Orpha, HPO, and ICF to describe disease-specific profiles. These profiles can...
ePoster at the RCPCH Conference Singapore. March 6-7 2021 Some 93 million children under 15 years of age live with moderate or severe disability (WHO, 2015). Disabilities, such as hearing deficit, cerebral palsy, developmental disabilities, turn out to have genetic causes. In 2019 the WHO launched a classification of digital...
The plethora of used medical terms and code types sometimes makes us dazzle, let alone how they relate to each other. We, therefore, publish some diagrams to help to identify different elements and their relationships with each other.
The use of the Internet and mobile phones becomes an indispensable part of our daily lives. Apps can help to travel, order a taxi, handle your finances, all around the world. How about health and well-being? Especially for those who need it most: individuals with a chronic, disabling and rare...
With (rare) conditions, time is of the essence. The longer it takes to reach the (right) diagnoses, the longer it takes before someone receives the proper treatment. Here is our plea to recognize the importance of early diagnosis and how Rare Care can help!
Today, we have a real treat for you in store: we are talking with Petra Poulissen. Petra works for Rare Care as an expert by experience. She is from the Netherlands and lives in a tiny village near Nijmegen called Molenhoek. Let’s dive into Petra’s interesting life, talk about her...
There’s a good chance that you have heard of the ‘expert by experience’. A person who can provide information and help others based on his/her own experience(s). And it ain’t for nothing that experts by experience are such a great help in the medical world.
