Dutch National Expertise Center for Pseudoxanthoma elasticum (DNECP) |
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Expertisecentrum voor neuroendocriene tumoren In samenwerking met NKI-AvL
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RAKU/Oncomid expertise centrum voor maag, slokdarm, alvleesklier, lever en galweg, -blaas tumoren In samenwerking met Diakonessenhuis Utrecht,Meander Medical Centre Amersfoort,St. Antonius Ziekenhuis
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- Carcinoma of gallbladder and extrahepatic biliary tract
- Carcinoma of the ampulla of Vater
- Cholangiocarcinoma
- Gastrointestinal stromal tumor
- Hepatocellular carcinoma
- High-grade dysplasia in patients with Barrett esophagus
- Rare carcinoma of small intestine
- Rare gastroesophageal tumor
- Rare hepatic and biliary tract tumor
- Rare tumor of Pancreas
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UMC Utrecht expertisecentrum erfelijke hart- en vaatziekten |
- Brugada syndrome
- Cardiomyopathy
- Familial dilated cardiomyopathy
- Familial isolated arrhythmogenic right ventricular dysplasia
- Familial long QT syndrome
- Familial thoracic aortic aneurysm and aortic dissection
- Genetic cardiac rhytm disease
- Idiopathic ventricular fibrillation, non Brugada type
- Rare genetic vascular disease
- Vascular Ehlers-Danlos syndrome
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UMC Utrecht Expertisecentrum voor aangeboren gelaats- en tandafwijkingen. |
- 22q11.2 deletion syndrome
- 22q11.2 duplication syndrome
- Ameloblastoma
- Anorectal malformation
- Cleft lip with or without cleft palate
- Cleft palate
- Hirschsprung disease
- Hypoglossia/aglossia
- Isolated Pierre Robin syndrome
- Otomandibular dysplasia
- Rare odontal or periodontal disorder
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UMC Utrecht Expertisecentrum voor aangeboren hartafwijkingen |
- Aortic malformation
- Conotruncal heart malformations
- Rare congenital non-syndromic heart malformation
- Transposition of the great arteries
- Univentricular cardiopathy
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UMC Utrecht expertisecentrum voor aangeboren slokdarm- en luchtwegafwijkingen |
- Congenital tracheomalacia
- Esophageal atresia
- Isolated tracheoesophageal fistula
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UMC Utrecht expertisecentrum voor aangeboren vaataandoeningen (CAVU) |
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UMC Utrecht expertisecentrum voor benigne hematologie, trombose en hemostase, Van Creveldkliniek |
- Blackfan-Diamond anemia
- Congenital dyserythropoietic anemia
- Constitutional neutropenia
- Hemoglobinopathy
- Hemolytic anemia due to red cell pyruvate kinase deficiency
- Hemophilia
- Immune thrombocytopenia
- Rare constitutional hemolytic anemia due to a red cell membrane anomaly
- Rare constitutional hemolytic anemia due to an enzyme disorder
- Rare hemorrhagic disorder due to a coagulation factors defect
- Rare hemorrhagic disorder due to a platelet anomaly
- Sickle cell anemia
- Sideroblastic anemia
- Von Willebrand disease
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UMC Utrecht expertisecentrum voor cystic fibrosis |
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UMC Utrecht expertisecentrum voor de diagnose en behandeling van het thoracic outlet syndroom |
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UMC Utrecht expertisecentrum voor erfelijke en aangeboren nier- en urinewegaandoeningen |
- Alport syndrome
- Bardet-Biedl syndrome
- Exstrophy-epispadias complex
- familial cystic renal disease
- Genetic nephrotic syndrome
- Joubert syndrome and related disorders
- Nephronophthisis
- Non-syndromic renal or urinary tract malformation
- Non-syndromic urogenital tract malformation of male and female
- Rare disorder potentially indicated for kidney transplant
- Rare genetic renal disease
- rare renal tubular disease
- Renal or urinary tract malformation
- Urogenital tract malformation
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UMC Utrecht expertisecentrum voor erfelijke metabole ziekten |
- Disorder of carnitine cycle and transport
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of folate metabolism and transport
- Disorder of purine or pyrimidine metabolism
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UMC Utrecht Expertisecentrum voor erfelijke metabole ziekten (CIMD-UMCU) In samenwerking met Bartiméus
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- CLN3 disease
- Hurler syndrome
- Methylmalonic acidemia with homocystinuria
- Methylmalonic acidemia without homocystinuria
- Neonatal epileptic encephalopathy due to glutaminase deficiency
- Propionic acidemia
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UMC Utrecht Expertisecentrum voor familiaire kanker |
- Hereditary breast and ovarian cancer syndrome
- Hereditary Breast Cancer
- Hereditary site-specific ovarian cancer syndrome
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UMC Utrecht expertisecentrum voor genetische ziekten van de darm en lever |
- Alagille syndrome
- Benign Recurrent Intrahepatic Cholestasis
- Intractable diarrhea of infancy
- Progressive familial intrahepatic cholestasis
- Wilson disease
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UMC Utrecht Expertisecentrum voor gynaecologische oncologie |
- Maligant granulosa cell tumor of the ovary
- Ovarian cancer
- Rare gynecological tumor
- Vulvar carcinoma
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UMC Utrecht Expertisecentrum voor hoofd-halstumoren |
- Rare tumor of salivary glands
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UMC Utrecht expertisecentrum voor maligne hematologie |
- Acute lymphoblastic leukemia
- Acute Myeloid leukemia
- AL amyloidosis
- B-cell chronic lymphocytic leukemia
- B-cell non-Hodgkin lymphoma
- Graft versus host disease
- Multiple myeloma
- Myeloproliferative neoplasm
- Non Hodgkin Lymphoma
- Plasma cell tumor
- Primary central nervous system lymphoma
- Waldenström macroglobulinemia
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UMC Utrecht Expertisecentrum voor neonatale neurologie |
- Cerebral sinovenous thrombosis
- Neonatal hypoxic and ischemic brain injury
- Pediatric arterial ischemic stroke
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UMC Utrecht Expertisecentrum voor neuro-oncologie en neoplastische schedelbasis aandoeningen |
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UMC Utrecht expertisecentrum voor neurovasculaire malformaties en subarachnoidale bloedingen |
- Acquired aneurysmal subarachnoid hemorrhage
- Familial cerebral saccular aneurysm
- Neurovascular malformation
- Rare arteriovenous malformation
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UMC Utrecht expertisecentrum voor skeletmalformaties & Mobility Clinic |
- Dysostosis
- Non-syndromic limb reduction defect
- Osteochondritis dissecans
- Osteogenesis imperfecta
- Primary Bone Dysplasia
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UMC Utrecht Expertisecentrum voor systemische autoimmuun ziekten en aangeboren afweerstoornissen |
- Antiphospholipid syndrome
- Common variable immunodeficiency
- Idiopathic inflammatory myopathy
- Immunodeficiency syndrome with autoimmunity
- Juvenile idiopathic arthritis
- Juvenile idiopathic inflammatory myopathy
- Mixed connective tissue disease
- Oligoarticular juvenile idiopathic arthritis
- Pediatric systemic lupus erythematosus
- Periodic fever syndromes
- Polyarticular juvenile idiopathic arthritis
- Primary Immunodeficiency
- Primary Sjogren Syndrome
- Psoriasis-related juvenile idiopathic arthritis
- Systemic lupus erythematosus
- Systemic sclerosis
- Systemic-onset juvenile idiopathic arthritis
- Vasculitis
- Vasculitis due to ADA2 deficiency
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UMC Utrecht expertisecentrum voor testiculaire en extragonadale kiemceltumoren In samenwerking met Prinses Maxima Centrum - PMC
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- Extragonadal germ cell tumor
- Germ cell tumor
- Germ cell tumor of testis
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UMC Utrecht expertisecentrum voor tubereuze sclerose |
- Tuberous sclerosis complex
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UMC Utrecht expertisecentrum voor uveitis |
- anterior uveitis
- Intermediate uveitis
- panuveitis
- posterior uveitis
- primary intraocular lymphoma
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UMC Utrecht expertisecentrum voor zeldzame en complexe epilepsie |
- cerebral cortical dysplasia
- cerebral malformations with epilepsy
- continuous spikes and waves during sleep
- Dravet syndrome
- Monogenetic disease with epilepsy
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UMC Utrecht expertisecentrum voor zeldzame endocriene tumoren |
- Acquired pituitary hormone deficiency
- Adrenal/paraganglial tumor
- Central diabetes insipidus
- Congenital adrenal hyperplasia
- Craniopharyngioma
- Hereditary pheochromocytoma-paraganglioma
- Multiple endocrine neoplasia type 1
- Multiple endocrine neoplasia type 2
- Pituitary adenoma
- Prolactinoma
- Rare hypothalamic or pituitary disease
- Thyroid tumor
- Von Hippel-Lindau disease
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UMC Utrecht expertisecentrum voor zeldzame erfelijke dyslipidemie |
- Dysbetalipoproteinemia
- Rare hyperlipidemia
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UMC Utrecht expertisecentrum voor zeldzame otorhinolaryngeale aandoenmingen |
- Congenital laryngomalacia
- Larynx anomaly
- Middle ear anomaly
- Tracheal anomaly
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UMC Utrecht Hersen Centrum Neuromusculaire Ziekten |
- Acquired skeletal muscle disease
- Amyotrophic lateral sclerosis
- ATTRV30M amyloidosis
- Bulbospinal muscular atrophy
- Chronic polyradiculoneuropathy
- Genetic peripheral neuropathy
- Genetic skeletal muscle disease
- Motor Neuron Disease
- Multifocal motor neuropathy
- Muscular dystrophy
- Neuromuscular disease
- Neuromuscular junction disease
- Non-dystrophic myopathy
- Peripheral neuropathy associated with monoclonal gammopathy
- Proximal spinal muscular atrophy
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