Lista chorób rzadkich*

295225 - Congenital elbow dislocation, unilateral

295227 - Congenital elbow dislocation, bilateral

295229 - Congenital genu recurvatum

295232 - Congenital genu flexum

295234 - OBSOLETE: Congenital patella dislocation, unilateral

295237 - OBSOLETE: Congenital patella dislocation, bilateral

295239 - Macrodactyly of fingers, unilateral

295241 - Macrodactyly of fingers, bilateral

295243 - Macrodactyly of toes, unilateral

295245 - Macrodactyly of toes, bilateral

298644 - Disorder of thiamine metabolism and transport

300179 - Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

300284 - Connective tissue disorder due to lysyl hydroxylase-3 deficiency

300293 - Transient infantile hypertriglyceridemia and hepatosteatosis

300298 - Severe congenital hypochromic anemia with ringed sideroblasts

300305 - 11p15.4 microduplication syndrome

300313 - Congenital cataract-hearing loss-severe developmental delay syndrome

300319 - Charcot-Marie-Tooth disease type 2P

300324 - Persistent polyclonal B-cell lymphocytosis

300333 - Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

300337 - OBSOLETE: Congenital blindness due to retinal non-attachment

300345 - Autosomal systemic lupus erythematosus

300359 - PLCG2-associated antibody deficiency and immune dysregulation

300373 - X-linked acrogigantism

300382 - Progeroid and marfanoid aspect-lipodystrophy syndrome

300385 - Pituitary carcinoma

300493 - Sagliker syndrome

300496 - Multiple congenital anomalies-hypotonia-seizures syndrome type 2

300501 - Painful orbital and systemic neurofibromas-marfanoid habitus syndrome

300504 - Onychocytic matricoma

300512 - Onychomatricoma

300515 - Rare nail tumor

300525 - Pseudohypoaldosteronism type 2D

300530 - Pseudohypoaldosteronism type 2E

300536 - DDOST-CDG

300547 - Autosomal recessive infantile hypercalcemia

300552 - Follicular cholangitis and pancreatitis

300557 - Carcinoma of the ampulla of Vater

300564 - Combined pulmonary fibrosis-emphysema syndrome

300570 - Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

300573 - Polymicrogyria due to TUBB2B mutation

300576 - Oligodontia-cancer predisposition syndrome

300579 - Staphylococcal toxemia

300605 - Juvenile amyotrophic lateral sclerosis

300751 - Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

300755 - Laminopathy with striated muscle involvement

300758 - Laminopathy with peripheral neuropathy

300763 - Laminopathy with lipodystrophy

300766 - Laminopathy with premature aging

300842 - Indolent B-cell non-Hodgkin lymphoma

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