Počet záznamov: 1
mukopolysacharidóza III
Č. záznamu d009084 Dátum 06.06.2025 Typ M Tematický termín mukopolysacharidóza III Iný termín Angličtina (Pseudonym) Polydystrophic Oligophrenia
Angličtina (Pseudonym) Sanfilippo's Syndrome
Slovenčina (Pseudonym) oligofrénia polydystrofická
Slovenčina (Pseudonym) Sanfilippov syndróm
MDT C16.320.565.202.715.650C16.320.565.595.600.650C17.300.550.575.650C18.452.648.202.715.650C18.452.648.595.600.650 Poznámka Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme. predmetové heslo
Počet záznamov: 1