Wyszukiwarka

Serwis Ministerstwa Zdrowia i Narodowego Funduszu Zdrowia

Lista chorób rzadkich*

Wyszukiwarka
199257 - Superficial fibromatosis
199260 - Calcifying aponeurotic fibroma
199267 - Infantile digital fibromatosis
199276 - Familial multiple lipomatosis
199279 - Familial angiolipomatosis
199282 - Harlequin syndrome
199285 - Hereditary hypercarotenemia and vitamin A deficiency
199293 - Congenital microgastria
199296 - Congenital isolated ACTH deficiency
199299 - Late-onset isolated ACTH deficiency
199302 - Isolated cleft lip
199306 - Cleft lip/palate
199310 - Tetragametic chimerism
199315 - Familial clubfoot with or without associated lower limb anomalies
199318 - 15q13.3 microdeletion syndrome
199323 - Endophthalmitis
199326 - Isolated autosomal dominant hypomagnesemia, Glaudemans type
199329 - Congenital myopathy, Paradas type
199332 - Endocrine-cerebro-osteodysplasia syndrome
199337 - Pancreatic insufficiency-anemia-hyperostosis syndrome
199340 - Muscular dystrophy, Selcen type
199343 - EAST syndrome
199348 - Thiamine-responsive encephalopathy
199351 - Adult-onset dystonia-parkinsonism
199354 - Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
199627 - Atypical autism
199630 - Isolated cerebellar vermis hypoplasia
199633 - Non-syndromic cerebral malformation
199639 - Syndrome with corpus callosum agenesis/dysgenesis as a major feature
199642 - Isolated congenital microcephaly
199647 - Isolated encephalocele
200037 - Paroxysmal dystonia
200418 - Immunodeficiency with factor I anomaly
200421 - Immunodeficiency with factor H anomaly
202940 - Anomaly of puberty or/and menstrual cycle of genetic origin
202948 - Syndromic microphthalmia-anophthalmia-coloboma
206428 - Hypoxanthine-guanine phosphoribosyltransferase deficiency
206436 - Infantile Krabbe disease
206443 - Late-infantile/juvenile Krabbe disease
206448 - Adult Krabbe disease
206470 - Cystadenoma of childhood
206473 - OBSOLETE: Borderline epithelial tumor of ovary
206484 - Gonadoblastoma
206489 - Malignant germ cell tumor of the vagina
206492 - Vulvovaginal rhabdomyosarcoma
206538 - Malignant non-dysgerminomatous germ cell tumor of ovary
206546 - Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
206549 - Anoctamin-5-related limb-girdle muscular dystrophy R12
206554 - Fukutin-related limb-girdle muscular dystrophy R13
206559 - POMT2-related limb-girdle muscular dystrophy R14
*Źródło

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