Lista chorób rzadkich*

262794 - Partial duplication of the short arm of chromosome 16

262803 - Partial duplication of the short arm of chromosome 17

262812 - Partial duplication/triplication of the short arm of chromosome 18

262833 - Partial duplication of the long arm of chromosome 1

262842 - Partial duplication of the long arm of chromosome 2

262851 - Partial duplication of the long arm of chromosome 3

262860 - Partial duplication of the long arm of chromosome 4

262869 - Partial duplication of the long arm of chromosome 5

262878 - Partial duplication of the long arm of chromosome 6

262887 - Partial duplication of the long arm of chromosome 7

262896 - Partial duplication of the long arm of chromosome 8

262905 - Partial duplication of the long arm of chromosome 9

262914 - Partial duplication of the long arm of chromosome 10

262923 - Partial duplication of the long arm of chromosome 11

262932 - Partial duplication of the long arm of chromosome 13

262941 - Partial duplication of the long arm of chromosome 14

262950 - Partial duplication of the long arm of chromosome 15

262959 - Partial duplication of the long arm of chromosome 16

262968 - Partial duplication of the long arm of chromosome 17

262977 - Partial duplication of the long arm of chromosome 18

262986 - Partial duplication of the long arm of chromosome 19

262995 - Partial duplication of the long arm of chromosome 20

263004 - Partial duplication of the long arm of chromosome 22

263019 - OBSOLETE: Uniparental disomy of chromosome 1

263024 - OBSOLETE: Uniparental disomy of chromosome 6

263029 - OBSOLETE: Uniparental disomy of chromosome 7

263034 - OBSOLETE: Uniparental disomy of chromosome 11

263044 - OBSOLETE: Uniparental disomy of chromosome 13

263049 - OBSOLETE: Uniparental disomy of chromosome 14

263054 - OBSOLETE: Uniparental disomy of chromosome 15

263059 - OBSOLETE: Uniparental disomy of chromosome 20

263064 - OBSOLETE: Uniparental disomy of chromosome 21

263297 - Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

263310 - Thymoma type A

263317 - Thymoma type B

263324 - Thymoma type AB

263331 - Well-differentiated thymic neuroendocrine carcinoma

263335 - Moderately-differentiated thymic neuroendocrine carcinoma

263339 - Poorly differentiated thymic neuroendocrine carcinoma

263347 - MRCS syndrome

263352 - Postcardiotomy right ventricular failure

263355 - OBSOLETE: ATR-X-related syndrome

263410 - Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

263413 - Angiosarcoma

263417 - Bartter syndrome with hypocalcemia

263425 - Nevus of Ota

263432 - Nevus of Ito

263435 - Congenital smooth muscle hamartoma

263440 - Neuroacanthocytosis

263455 - Congenital hyperinsulinism due to HNF4A deficiency

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl

© 2023 Centrum e-Zdrowia. Wszystkie prawa zastrzeżone