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pseudoxanthoma elasticum
Č. záznamu d011561 Dátum 06.06.2025 Typ M - MESH Tematický termín pseudoxanthoma elasticum Iný termín Slovenčina (Pseudonym) Grönbladovej-Strandbergov syndróm
Slovenčina (Pseudonym) pseudoxantóm elastický, autozomálne dominantný
Slovenčina (Pseudonym) pseudoxantóm elastický, inkompletný
Slovenčina (Pseudonym) pseudoxantóm elastický, neúplná forma
MDT C14.907.454.530C15.378.463.515.530C16.131.831.766C16.320.850.750C17.300.766C17.800.804.766C17.800.827.750 Poznámka An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE. predmetové heslo
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