Wyszukiwarka

Serwis Ministerstwa Zdrowia i Narodowego Funduszu Zdrowia

Lista chorób rzadkich*

Wyszukiwarka
289356 - Primary non-gestational choriocarcinoma of ovary
289362 - Non-central nervous system-localized embryonal carcinoma
289365 - Familial vesicoureteral reflux
289377 - Early-onset myopathy with fatal cardiomyopathy
289380 - Myosclerosis
289385 - Malignancy diagnosed during pregnancy
289390 - Primary Sjögren syndrome
289395 - NON RARE IN EUROPE: Secondary Sjögren syndrome
289465 - Isolated congenital adermatoglyphia
289478 - Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome
289483 - Intellectual disability-alacrima-achalasia syndrome
289494 - 4H leukodystrophy
289499 - Congenital cataract microcornea with corneal opacity
289504 - Combined malonic and methylmalonic acidemia
289513 - 12q15q21.1 microdeletion syndrome
289522 - Microtriplication 11q24.1
289527 - OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
289539 - BAP1-related tumor predisposition syndrome
289548 - Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
289553 - Dysmorphism-conductive hearing loss-heart defect syndrome
289560 - Mitochondrial membrane protein-associated neurodegeneration
289573 - Multiple mitochondrial dysfunctions syndrome
289586 - Exfoliative ichthyosis
289596 - Juvenile nasopharyngeal angiofibroma
289601 - Hereditary arterial and articular multiple calcification syndrome
289635 - Rare virus associated tumor
289638 - Epstein-Barr Virus-related tumor
289644 - Epstein-Barr virus-associated malignant lymphoproliferative disorder
289651 - Epstein-Barr Virus-associated carcinoma
289656 - Epstein-Barr Virus-associated mesenchymal tumor
289661 - Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly
289666 - Plasmablastic lymphoma
289682 - Lymphoepithelial-like carcinoma
289685 - Myopericytoma
289825 - Late-onset primary lymphedema without systemic or visceral involvement
289829 - Disorder of tryptophan metabolism
289832 - Disorder of lysine and hydroxylysine metabolism
289841 - Disorder of glutamine metabolism
289846 - Glutathione synthetase deficiency with 5-oxoprolinuria
289849 - Glutathione synthetase deficiency without 5-oxoprolinuria
289857 - Neonatal glycine encephalopathy
289860 - Infantile glycine encephalopathy
289863 - Atypical glycine encephalopathy
289866 - Disorder of proline metabolism
289869 - Disorder of ornithine metabolism
289877 - Transient hyperammonemia of the newborn
289891 - Hypermethioninemia due to glycine N-methyltransferase deficiency
289899 - Organic aciduria
289902 - 3-methylglutaconic aciduria
289916 - Vitamin B12-unresponsive methylmalonic acidemia type mut0
*Źródło

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