Wyszukiwarka

Serwis Ministerstwa Zdrowia i Narodowego Funduszu Zdrowia

Lista chorób rzadkich*

Wyszukiwarka
324530 - Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
324535 - Combined oxidative phosphorylation defect type 11
324540 - Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
324561 - Hypopigmentation-punctate palmoplantar keratoderma syndrome
324569 - Pontocerebellar hypoplasia type 8
324575 - Hyperinsulinism due to HNF1A deficiency
324581 - Benign Samaritan congenital myopathy
324585 - Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
324588 - Familial dyskinesia and facial myokymia
324601 - X-linked cleft palate and ankyloglossia
324604 - Classic multiminicore myopathy
324611 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
324625 - Chikungunya
324632 - Hendra virus infection
324636 - Autoerythrocyte sensitization syndrome
324648 - Invasive non-typhoidal salmonellosis
324703 - ABetaL34V amyloidosis
324708 - ABeta amyloidosis, Iowa type
324713 - ABeta amyloidosis, Italian type
324718 - ABetaA21G amyloidosis
324723 - ABeta amyloidosis, Arctic type
324737 - SRD5A3-CDG
324761 - Microcephalic primordial dwarfism
324764 - Trichorhinophalangeal syndrome
324767 - Non-familial rare disease with dilated cardiomyopathy
324924 - Hereditary periodic fever syndrome
324927 - Pyogenic autoinflammatory syndrome
324930 - Granulomatous autoinflammatory syndrome
324933 - Mixed autoinflammatory and autoimmune syndrome
324936 - Unclassified autoinflammatory syndrome
324939 - Periodic fever syndrome of childhood
324942 - Pyogenic autoinflammatory syndrome of childhood
324950 - Granulomatous autoinflammatory syndrome of childhood
324953 - Unclassified autoinflammatory syndrome of childhood
324960 - Unexplained periodic fever syndrome of childhood
324964 - Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
324972 - MAGIC syndrome
324977 - Proteasome-associated autoinflammatory syndrome
324982 - OBSOLETE: Adult-onset SAPHO syndrome
324989 - OBSOLETE: Juvenile-onset SAPHO syndrome
324999 - JMP syndrome
325004 - CANDLE syndrome
325055 - 46,XX disorder of gonadal development
325061 - 46,XX disorder of sex development induced by fetoplacental androgens excess
325093 - 46,XX disorder of sex development induced by endogenous maternal-derived androgen
325099 - 46,XX disorder of sex development induced by exogenous maternal-derived androgen
325109 - Syndrome with 46,XX disorder of sex development
325118 - 46,XY disorder of gonadal development
325124 - Testicular agenesis
325345 - 46,XY ovotesticular disorder of sex development
*Źródło

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