ICD-10 Diagnosis Code E75.29

Other sphingolipidosis

Diagnosis Code E75.29

ICD-10: E75.29
Short Description: Other sphingolipidosis
Long Description: Other sphingolipidosis
This is the 2017 version of the ICD-10-CM diagnosis code E75.29

Code Classification
  • Endocrine, nutritional and metabolic diseases
    • Metabolic disorders (E70-E88)
      • Disord of sphingolipid metab and oth lipid storage disorders (E75)

Information for Medical Professionals

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The ICD-10 and ICD-9 GEMs are used to facilitate linking between the diagnosis codes in ICD-9-CM and the new ICD-10-CM code set. The GEMs are the raw material from which providers, health information vendors and payers can derive specific applied mappings to meet their needs.

  • Adult onset autosomal dominant leukodystrophy
  • Deficiency of arylsulfatase
  • Deficiency of cerebroside-sulfatase
  • Deficiency of placental endocrine function
  • Deficiency of placental function
  • Disorder involving deficiency of steryl-sulfatase
  • Disorder involving deficiency of steryl-sulfatase
  • Disorder involving deficiency of steryl-sulfatase
  • Leucodystrophy without a known biochemical basis
  • Leukodystrophy
  • Multiple sulfatase deficiency
  • Neuraxonal leucodystrophy
  • Neuroaxonal dystrophy
  • Pelizaeus-Merzbacher disease
  • Pelizaeus-Merzbacher disease, classic form
  • Pelizaeus-Merzbacher disease, connatal variant
  • Placental sulfatase deficiency
  • Ribonucleic acid polymerase III-related leukodystrophy
  • Spongy degeneration of central nervous system
  • Type III transitional Pelizaeus-Merzbacher disease
  • Type IV adult Pelizaeus-Merzbacher disease
  • Type V atypical Pelizaeus-Merzbacher disease
  • Type VI Cockayne Pelizaeus-Merzbacher disease
  • X-linked ichthyosis with steryl-sulfatase deficiency

Index of Diseases and Injuries
References found for the code E75.29 in the Index of Diseases and Injuries:

Information for Patients

Genetic Brain Disorders

Also called: Inborn 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

  • Leukodystrophies
  • Phenylketonuria
  • 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.

  • Lesch-Nyhan syndrome
  • Maple syrup urine disease
  • Menkes syndrome
  • Neuronal ceroid lipofuscinoses (NCLS)
  • Niemann-Pick disease

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Canavan disease Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses.Neonatal/infantile Canavan disease is the most common and most severe form of the condition. Affected infants appear normal for the first few months of life, but by age 3 to 5 months, problems with development become noticeable. These infants usually do not develop motor skills such as turning over, controlling head movement, and sitting without support. Other common features of this condition include weak muscle tone (hypotonia), an unusually large head size (macrocephaly), and irritability. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop.The mild/juvenile form of Canavan disease is less common. Affected individuals have mildly delayed development of speech and motor skills starting in childhood. These delays may be so mild and nonspecific that they are never recognized as being caused by Canavan disease.The life expectancy for people with Canavan disease varies. Most people with the neonatal/infantile form live only into childhood, although some survive into adolescence or beyond. People with the mild/juvenile form do not appear to have a shortened lifespan.
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Farber lipogranulomatosis Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints.Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Affected individuals may also have difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay.Researchers have described seven types of Farber lipogranulomatosis based on their characteristic features.Type 1 is the most common, or classical, form of this condition and is associated with the classic signs of voice, skin, and joint problems that begin a few months after birth. Developmental delay and lung disease also commonly occur. Infants born with type 1 Farber lipogranulomatosis usually survive only into early childhood.Types 2 and 3 generally have less severe signs and symptoms than the other types. Affected individuals have the three classic signs and usually do not have developmental delay. Children with these types of Farber lipogranulomatosis typically live into mid- to late childhood.Types 4 and 5 are associated with severe neurological problems. Type 4 usually causes life-threatening health problems beginning in infancy due to massive lipid deposits in the liver, spleen, lungs, and immune system tissues. Children with this type typically do not survive past their first year of life. Type 5 is characterized by progressive decline in brain and spinal cord (central nervous system) function, which causes paralysis of the arms and legs (quadriplegia), seizures, loss of speech, involuntary muscle jerks (myoclonus), and developmental delay. Children with type 5 Farber lipogranulomatosis survive into early childhood.Types 6 and 7 are very rare, and affected individuals have other associated disorders in addition to Farber lipogranulomatosis.
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