Počet záznamov: 1
Zellwegerov syndróm
Č. záznamu d015211 Dátum 06.06.2025 Typ M - MESH Tematický termín Zellwegerov syndróm Iný termín Angličtina (Pseudonym) Cerebrohepatorenal Syndrome
Angličtina (Pseudonym) Zellweger-Like Syndrome
Slovenčina (Pseudonym) syndróm cerebrohepatorenálny
Slovenčina (Pseudonym) PBD, ZSS
Slovenčina (Pseudonym) syndróm podobný Zellwegerovmu syndrómu
Slovenčina (Pseudonym) poruchy biogenézy peroxizómov, spektrum Zellwegerovho syndrómu
Slovenčina (Pseudonym) Zellwegerova choroba
Slovenčina (Pseudonym) poruchy Zellwegerovho spektra
Slovenčina (Pseudonym) Zellwegerovské spektrum
Slovenčina (Pseudonym) poruchy Zellwegerovského spektra
Slovenčina (Pseudonym) porucha peroxizomálna abiogenetická
MDT C06.552.970C10.228.140.163.100.968C12.050.351.968.419.978C12.200.777.419.978C12.950.419.978C16.131.077.970C16.320.565.189.968C16.320.565.663.970C18.452.132.100.968C18.452.648.189.968C18.452.648.663.970 Poznámka An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis. Signatúra C 526 
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