E71.510

Clinical Information

• A rare group of autosomal recessive inherited disorders characterized by the reduction or absence of peroxisomes in the tissues. Signs and symptoms include increased levels of iron and copper in the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and hypotonia.

• 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.

• Autosomal recessive peroxisomal disorder, also known as zellweger syndrome, that typically presents in the neonatal period and is usually fatal; clinical features include hypotonia, dysmorphic skull and facial bones, visual compromise, multifocal seizures, hepatomegaly, biliary dysgenesis, and swallowing difficulties; pathologically, there are migration deficits of the neocortex and degeneration of white matter tracts; zellweger-like syndrome refers to conditions that phenotypically resemble neonatal zellweger syndrome, but occur in childhood or adulthood.

Details

• E71.510 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E71.510 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E71.510 – other international versions of ICD-10 E71.510 may differ.