Lista chorób rzadkich*

71213 - Retinal capillary malformation

71267 - Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome

71269 - OBSOLETE: Benign exophthalmos syndrome

71270 - OBSOLETE: Auriculoocular anomalies-cleft lip syndrome

71271 - Split hand-split foot-deafness syndrome

71272 - Sandifer syndrome

71273 - Renal nutcracker syndrome

71274 - Disseminated peritoneal leiomyomatosis

71275 - Rh deficiency syndrome

71276 - Silent sinus syndrome

71277 - Classic glucose transporter type 1 deficiency syndrome

71278 - Congenital brain dysgenesis due to glutamine synthetase deficiency

71279 - CANOMAD syndrome

71281 - Rare central nervous system and retinal vascular disease

71289 - Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

71290 - Familial platelet disorder with associated myeloid malignancy

71291 - Hereditary vascular retinopathy

71493 - Familial thrombocytosis

71505 - Cancer-associated retinopathy

71516 - OBSOLETE: Mixed dystonia

71517 - Rapid-onset dystonia-parkinsonism

71518 - Benign paroxysmal torticollis of infancy

71519 - Psychogenic movement disorders

71526 - Obesity due to pro-opiomelanocortin deficiency

71528 - Obesity due to prohormone convertase I deficiency

71529 - Obesity due to melanocortin 4 receptor deficiency

71859 - Rare genetic neurological disorder

71862 - Inherited retinal disorder

71864 - Muscular channelopathy

73014 - Intractable diarrhea of infancy

73217 - Müllerian aplasia

73220 - X-linked intellectual disability-hypotonic face syndrome

73223 - Global developmental delay-osteopenia-ectodermal defect syndrome

73224 - Kidney tubulopathy-dilated cardiomyopathy syndrome

73229 - HANAC syndrome

73230 - Ossification anomalies-psychomotor developmental delay syndrome

73245 - Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

73246 - Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

73247 - NON RARE IN EUROPE: Eosinophilic esophagitis

73256 - Central neurocytoma

73260 - Paracoccidioidomycosis

73263 - Zygomycosis

73267 - Non-24-hour sleep-wake syndrome

73271 - Bleeding diathesis due to a collagen receptor defect

73272 - Growth delay due to insulin-like growth factor type 1 deficiency

73273 - Growth delay due to insulin-like growth factor I resistance

73274 - OBSOLETE: Acquired hemophilia

73423 - Acute ackee fruit intoxication

75110 - Myiasis

75233 - Wolman disease

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl

© 2023 Centrum e-Zdrowia. Wszystkie prawa zastrzeżone