Valid for Submission
E75.248 is a billable diagnosis code used to specify a medical diagnosis of other niemann-pick disease. The code E75.248 is valid during the fiscal year 2022 from October 01, 2021 through September 30, 2022 for the submission of HIPAA-covered transactions.
Index to Diseases and Injuries
The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10 code(s). The following references for the code E75.248 are found in the index:
- NIEMANN PICK DISEASES-. a group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. they can be caused by deficiencies of enzyme activities sphingomyelin phosphodiesterase or defects in intracellular transport resulting in the accumulation of sphingomyelins and cholesterol. there are various subtypes based on their clinical and genetic differences.
- NIEMANN PICK DISEASE TYPE A-. the classic infantile form of niemann pick disease caused by mutation in sphingomyelin phosphodiesterase. it is characterized by accumulation of sphingomyelins in the cells of the mononuclear phagocyte system and other cell throughout the body leading to cell death. clinical signs include jaundice hepatosplenomegaly and severe brain damage.
- NIEMANN PICK DISEASE TYPE B-. an allelic disorder of type a niemann pick disease a late onset form. it is also caused by mutation in sphingomyelin phosphodiesterase but clinical signs involve only visceral organs non neuropathic type.
- NIEMANN PICK DISEASE TYPE C-. an autosomal recessive lipid storage disorder that is characterized by accumulation of cholesterol and sphingomyelins in cells of the viscera and the central nervous system. type c or c1 and type d are allelic disorders caused by mutation of the npc1 gene which encodes a protein that mediates intracellular cholesterol transport from lysosomes. clinical signs include hepatosplenomegaly and chronic neurological symptoms. type d is a variant in people with a nova scotia ancestry.
Convert E75.248 to ICD-9 Code
The General Equivalency Mapping (GEM) crosswalk indicates an approximate mapping between the ICD-10 code E75.248 its ICD-9 equivalent. The approximate mapping means there is not an exact match between the ICD-10 code and the ICD-9 code and the mapped code is not a precise representation of the original code.
Information for Patients
Genetic Brain Disorders
A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain.
Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors.
Some examples of genetic brain disorders include
- Tay-Sachs disease
- Wilson disease
Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some have treatments to control symptoms. Some are life-threatening.
[Learn More in MedlinePlus]
Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.
Infants with Niemann-Pick disease type A usually develop an enlarged liver and spleen (hepatosplenomegaly) by age 3 months and fail to gain weight and grow at the expected rate (failure to thrive). The affected children develop normally until around age 1 year when they experience a progressive loss of mental abilities and movement (psychomotor regression). Children with Niemann-Pick disease type A also develop widespread lung damage (interstitial lung disease) that can cause recurrent lung infections and eventually lead to respiratory failure. All affected children have an eye abnormality called a cherry-red spot, which can be identified with an eye examination. Children with Niemann-Pick disease type A generally do not survive past early childhood.
Niemann-Pick disease type B usually presents in mid-childhood. The signs and symptoms of this type are similar to type A, but not as severe. People with Niemann-Pick disease type B often have hepatosplenomegaly, recurrent lung infections, and a low number of platelets in the blood (thrombocytopenia). They also have short stature and slowed mineralization of bone (delayed bone age). About one-third of affected individuals have the cherry-red spot eye abnormality or neurological impairment. People with Niemann-Pick disease type B usually survive into adulthood.
The signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar; these types differ only in their genetic cause. Niemann-Pick disease types C1 and C2 usually become apparent in childhood, although signs and symptoms can develop at any time. People with these types usually develop difficulty coordinating movements (ataxia), an inability to move the eyes vertically (vertical supranuclear gaze palsy), poor muscle tone (dystonia), severe liver disease, and interstitial lung disease. Individuals with Niemann-Pick disease types C1 and C2 have problems with speech and swallowing that worsen over time, eventually interfering with feeding. Affected individuals often experience progressive decline in intellectual function and about one-third have seizures. People with these types may survive into adulthood.
[Learn More in MedlinePlus]