Lista chorób rzadkich*

90797 - Partial androgen insensitivity syndrome

90970 - Primary lipodystrophy

91024 - Autosomal recessive axonal hereditary motor and sensory neuropathy

91088 - Other metabolic disease

91127 - Adenovirus infection in immunocompromised patients

91128 - OBSOLETE: Graft rejection after lung transplantation

91129 - Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome

91130 - Cardiomyopathy-hypotonia-lactic acidosis syndrome

91131 - DK1-CDG

91132 - Ichthyosis-hypotrichosis syndrome

91133 - OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome

91135 - Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

91136 - Acquired monoclonal Ig light chain-associated Fanconi syndrome

91137 - Immunotactoid or fibrillary glomerulopathy

91138 - Cryoglobulinemic vasculitis

91139 - Simple cryoglobulinemia

91140 - Unspecified juvenile idiopathic arthritis

91144 - 46,XX disorder of sex development induced by maternal-derived androgen

91347 - TSH-secreting pituitary adenoma

91348 - Functioning gonadotropic adenoma

91349 - Non-functioning pituitary adenoma

91350 - Pituitary deficiency due to Rathke cleft cysts

91351 - Pituitary dermoid and epidermoid cysts

91352 - Germinoma of the central nervous system

91353 - OBSOLETE: Choristoma

91354 - Pituitary deficiency due to empty sella turcica syndrome

91355 - Sheehan syndrome

91357 - Duplication of the esophagus

91358 - Congenital esophageal diverticulum

91359 - Chronic pneumonitis of infancy

91364 - Non-specific interstitial pneumonia

91365 - OBSOLETE: Secondary ciliary dyskinesia

91378 - Hereditary angioedema

91385 - Acquired angioedema

91387 - Familial thoracic aortic aneurysm and aortic dissection

91396 - Isolated cryptophthalmia

91397 - Isolated ankyloblepharon filiforme adnatum

91411 - Congenital ptosis

91412 - Marcus-Gunn syndrome

91413 - Congenital Horner syndrome

91414 - Pilomatrixoma

91415 - OBSOLETE: Familial capillary hemangioma

91416 - Isolated congenital alacrima

91481 - Ring dermoid of cornea

91483 - Rieger anomaly

91489 - Isolated congenital megalocornea

91490 - Isolated congenital sclerocornea

91491 - Congenital ectropion uveae

91492 - Early-onset non-syndromic cataract

91494 - Macular coloboma-cleft palate-hallux valgus syndrome

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