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Marfanov syndróm
Č. záznamu d008382 Dátum 06.06.2025 Typ M - MESH Tematický termín Marfanov syndróm Iný termín Angličtina (Pseudonym) Marfan Like Connective Tissue Disorder
Angličtina (Pseudonym) Marfan Syndrome Type 1
Angličtina (Pseudonym) Marfan Syndrome Type 2
Angličtina (Pseudonym) Marfan Syndrome, Type II
Slovenčina (Pseudonym) porucha spojivového tkaniva podobná Marfanovmu syndrómu
Slovenčina (Pseudonym) Marfanov syndróm, typ 1
Slovenčina (Pseudonym) Marfanov syndróm typu I
Slovenčina (Pseudonym) Marfanov syndróm, typ 2
Slovenčina (Pseudonym) Marfanov syndróm typu II
Pozri tiež (Skutočné meno) Loeysov-Dietzov syndróm
(Skutočné meno) Weillov-Marchesaniho syndróm
(Novšie záhlavie) Loeysov-Dietzov syndróm
(Novšie záhlavie) Weillov-Marchesaniho syndróm
MDT C05.116.099.674C14.240.400.725C14.280.400.725C16.131.077.550C16.131.240.400.720C16.320.540C17.300.500 Poznámka An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. 
predmetové heslo
Počet záznamov: 1