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;
Zellweger syndrome. 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...
Q87.19 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. Short description: Other congen malform synd predom assoc with short stature The 2021 edition of ICD-10-CM Q87.19 became effective on October 1, 2020.
Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD). The diseases are caused by defects in any one of 13 genes, termed PEX genes, required for the normal formation and function of peroxisomes.
The severe form was known as Zellweger syndrome, the intermediate form was neonatal adrenoleukodystrophy (NALD), and the mild form was infantile Refsum disease. These conditions were renamed as a single condition when they were found to be part of the same condition spectrum.
Zellweger syndrome (ZS) is a class of inherited metabolic disorders caused by a deficiency in peroxisomal biogenesis (reviewed in [1,2]). The incidence of ZS is about 1/25,000 – 1/50,000 births.
Zellweger syndrome (ZS) is a genetic disorder found in newborn babies. ZS is the most severe of the four disorders in the Zellweger spectrum. It causes serious problems with nerves and metabolism (changing food into energy) soon after birth. ZS affects the brain, liver and kidneys.
Zellweger syndrome is a genetic disease, which means that it is caused by one or more genes not working correctly. Disease causing variants in the following gene(s) are known to cause this disease: PEX11B, PEX2, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PEX3, PEX5, PEX6.
Zellweger syndrome is a rare, inherited metabolic disorder that affects peroxisomes, organelles found in almost all body cells. Peroxisomes are responsible for many important cell processes, including energy metabolism, which means that Zellweger syndrome can severely impact the body.
The signs and symptoms of Zellweger syndrome typically appear during the newborn period and may include poor muscle tone (hypotonia), poor feeding, seizures, hearing loss, vision loss, distinctive facial features, and skeletal abnormalities.
47.10. Zellweger syndrome (ZS) is a rare autosomal recessive peroxisomal disorder caused by mutations in the Peroxins (PEX) genes that encode the peroxisomal assembly proteins.
Zellweger syndrome spectrum (PEX1-related) is an autosomal recessive disease of peroxisome biogenesis. It is comprised of three diseases that make up a continuum of severity, from the most severe, known as Zellweger syndrome, to neonatal adrenoleukodystrophy, to infantile Refsum disease, which is the mildest.
The most common of the single enzyme defects, in which peroxisomes are present but a single enzyme function is deficient, is X-linked adrenoleukodystrophy (XALD).
Peroxisomal disorders are a heterogeneous group of inborn errors of metabolism that result in impairment of peroxisome function. In most cases, this results in neurologic dysfunction of varying extent. The major peroxisomal disorders will be reviewed here.
Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids.
The ICD-10-CM Alphabetical Index links the below-listed medical terms to the ICD code E71.510. Click on any term below to browse the alphabetical index.
This is the official approximate match mapping between ICD9 and ICD10, as provided by the General Equivalency mapping crosswalk. This means that while there is no exact mapping between this ICD10 code E71.510 and a single ICD9 code, 277.86 is an approximate match for comparison and conversion purposes.