Results in The Netherlands
There are knowledge maps for 28 different rare diseases in The Netherlands at this time.
The blue highlighted knowledge maps are translated into English and clickable. The other knowledgemaps are only available in Dutch.
Adrenal Insufficiency |
WKZ/UMCU |
Amyloidosis |
UMCG – Groningen |
Anorectal malformation |
Erasmus MC Rotterdam Radboudumc Nijmegen UMCG – Groningen |
Aplastic anemia |
LUMC – Leiden |
Atypical hemolytic-uremic syndrome (aHUS) |
Radboudumc Nijmegen |
Bladder Exstrophy |
Radboudumc Nijmegen UMCG – Groningen |
Cerebrotendinous xanthomatosis |
CWZ- Nijmegen |
Congenital disorders of glycosylation (CDG) |
Radboudumc Nijmegen |
Congenital melanocytic nevus (CMN) |
Erasmus MC Rotterdam AMC Amsterdam |
Fatty acid oxidation disorders (long-chain) |
UMCU – Utrecht |
Fatty acid oxidation disorders (medium-chain) |
UMCU – Utrecht UMCG – Groningen |
Glycogen storage diseases |
UMCG – Groningen |
Immunodeficiencies |
Radboudumc Nijmegen |
Lysosomal storage diseases |
Erasmus MC Rotterdam AMC Amsterdam |
Mitochondrial diseases |
Erasmus MC Rotterdam Radboudumc Nijmegen |
Nail Patella Syndrome (NPS) |
Radboudumc Nijmegen |
Netherton syndroom |
Erasmus MC Rotterdam |
Neuronal ceroid lipofuscinosis (NCL3) |
WKZ/ Bartiméus |
Osteogenesis Imperfecta |
Isala WKZ/UMCU |
Paroxysmal nocturnal hemoglobinuria (PNH) |
Radboudumc Nijmegen |
Phospholamban gene mutation |
UMCU – Utrecht UMCG – Groningen AMC Amsterdam |
Pulmonary fibrosis |
Erasmus MC Rotterdam OLVG Amsterdam St. Antonius Ziekenhuis |
Pulmonary hypertension (PH) |
VUmc – Amsterdam Erasmus MC Rotterdam Radboudumc Nijmegen MUMC+ – Maastricht UMCG – Groningen |
Short bowel syndrome |
VUmc – Amsterdam Radboudumc Nijmegen UMCG – Groningen AMC Amsterdam |
Urea cycle defects and organic acidemias |
Erasmus MC Rotterdam |
Vasculitis |
Erasmus MC Rotterdam Meander MC Amersfoort Noordwest Ziekenhuisgroep Alkmaar |
White matter disorders |
VUmc – Amsterdam |
X-linked adrenoleukodystrophy (X-ALD) |
AMC Amsterdam |
Click here for the published Dutch knowledge maps.