Wyszukiwarka

Serwis Ministerstwa Zdrowia i Narodowego Funduszu Zdrowia

Lista chorób rzadkich*

Wyszukiwarka
75234 - Cholesteryl ester storage disease
75249 - Familial isolated restrictive cardiomyopathy
75325 - Osteosclerosis-ichthyosis-premature ovarian failure syndrome
75326 - Retinal arterial tortuosity
75327 - North Carolina macular dystrophy
75373 - Progressive bifocal chorioretinal atrophy
75374 - Bradyopsia
75376 - Familial drusen
75377 - Central areolar choroidal dystrophy
75378 - Oligocone trichromacy
75381 - Cystoid macular dystrophy
75382 - Oguchi disease
75389 - Brain malformation-congenital heart disease-postaxial polydactyly syndrome
75391 - Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
75392 - Periodontal Ehlers-Danlos syndrome
75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
75497 - X-linked Ehlers-Danlos syndrome
75501 - OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type
75508 - Angioosteohypotrophic syndrome
75563 - X-linked sideroblastic anemia
75564 - Acquired idiopathic sideroblastic anemia
75565 - Tropical endomyocardial fibrosis
75566 - Loeffler endocarditis
75567 - Primary progressive freezing gait
75789 - SIBIDS syndrome
75790 - Pollitt syndrome
75840 - Congenital muscular dystrophy, Ullrich type
75857 - 6q terminal deletion syndrome
75858 - MORM syndrome
77240 - Primary lymphedema
77241 - OBSOLETE: Lymphedema praecox
77242 - OBSOLETE: Lymphedema tarda
77243 - NON RARE IN EUROPE: Lipedema
77258 - Trichorhinophalangeal syndrome type 1 and 3
77259 - Gaucher disease type 1
77260 - Gaucher disease type 2
77261 - Gaucher disease type 3
77292 - Infantile neurovisceral acid sphingomyelinase deficiency
77293 - Chronic visceral acid sphingomyelinase deficiency
77295 - Odontoleukodystrophy
77296 - Morgagni-Stewart-Morel syndrome
77297 - Majeed syndrome
77298 - Anophthalmia/microphthalmia-esophageal atresia syndrome
77299 - Microphthalmia-brain atrophy syndrome
77300 - Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
77301 - Monosomy 9q22.3
77302 - Oculo-oto-facial dysplasia
77303 - OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect
77304 - OBSOLETE: Not NOTCH3-related small vessel disease of the brain
77828 - Genetic obesity
*Źródło

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