Wyszukiwarka

Serwis Ministerstwa Zdrowia i Narodowego Funduszu Zdrowia

Lista chorób rzadkich*

Wyszukiwarka
731 - Autosomal recessive polycystic kidney disease
732 - Polymyositis
733 - Familial adenomatous polyposis
734 - Alpha delta granule deficiency
735 - Porokeratosis of Mibelli
736 - Palmoplantar porokeratosis of Mantoux
737 - Porokeratosis plantaris palmaris et disseminata
738 - Porphyria
739 - Prader-Willi syndrome
740 - Hutchinson-Gilford progeria syndrome
741 - Familial mitral valve prolapse
742 - Prolidase deficiency
743 - Severe hereditary thrombophilia due to congenital protein S deficiency
744 - Proteus syndrome
745 - Severe hereditary thrombophilia due to congenital protein C deficiency
746 - Mitochondrial trifunctional protein deficiency
747 - Autoimmune pulmonary alveolar proteinosis
748 - Mendelian susceptibility to mycobacterial diseases
749 - Congenital prekallikrein deficiency
750 - Pseudoachondroplasia
751 - NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency
752 - 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
753 - 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
754 - Androgen insensitivity syndrome
755 - Leydig cell hypoplasia
756 - Pseudohypoaldosteronism type 1
757 - Pseudohypoaldosteronism type 2
758 - Pseudoxanthoma elasticum
759 - Central precocious puberty
760 - Purine nucleoside phosphorylase deficiency
761 - Immunoglobulin A vasculitis
763 - Pycnodysostosis
764 - Pyomyositis
765 - Pyruvate dehydrogenase deficiency
766 - Hemolytic anemia due to red cell pyruvate kinase deficiency
767 - Polyarteritis nodosa
768 - Familial long QT syndrome
769 - Rabson-Mendenhall syndrome
770 - Rabies
771 - NON RARE IN EUROPE: Ulcerative colitis
772 - Infantile Refsum disease
773 - Refsum disease
774 - Hereditary hemorrhagic telangiectasia
775 - OBSOLETE: X-linked intellectual disability, Martinez type
776 - Lujan-Fryns syndrome
777 - X-linked non-syndromic intellectual disability
778 - Rett syndrome
779 - Reynolds syndrome
780 - Rhabdomyosarcoma
781 - Q fever
*Źródło

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