2025 ICD-10-CM code E75.3
Unspecified sphingolipidosis, a group of inherited disorders causing enzyme deficiencies and abnormal lipid metabolism, leading to lipid accumulation in the body.
Medical necessity for services related to sphingolipidosis is established by the diagnostic workup for identifying the disorder, management of symptoms, and supportive care based on the individual's specific needs.
Diagnosis is based on patient history, signs, symptoms, physical examination, and diagnostic studies for specific enzymatic activity. Treatment is often limited to supportive care, symptomatic relief, and management of associated conditions. Enzyme replacement therapy may be considered.
In simple words: This code represents a general type of inherited disorder where the body can't break down certain fats properly. These fats then build up and can harm different parts of the body, causing a variety of problems. The exact kind of this fat-related disorder isn't specified.
Unspecified sphingolipidosis is a group of inherited disorders caused by gene mutations that result in the absence or deficiency of enzymes necessary for lipid metabolism. This leads to the accumulation of lipids in various parts of the body, causing a range of symptoms depending on the specific type of sphingolipidosis.Symptoms can include delayed development, muscle weakness, and eye, skin, and brain disorders. The specific type of sphingolipidosis is not documented by the provider.
Example 1: A pediatric patient presents with developmental delays, an enlarged liver and spleen, and a cherry-red spot in the eye.Further testing reveals a deficiency in a specific enzyme involved in sphingolipid metabolism, but the exact type isn't identified initially, thus E75.3 is used., An adult patient experiences progressive neurological decline, including cognitive impairment and motor dysfunction.Biopsy and biochemical analysis suggest a sphingolipid storage disorder, but further classification is pending. E75.3 is applied until a definitive diagnosis is reached., An infant shows signs of muscle weakness, feeding difficulties, and developmental regression.Genetic testing reveals a mutation associated with sphingolipidoses, but the specific subtype is not yet confirmed, so E75.3 is initially coded.
Documentation should include relevant clinical findings, family history, results of enzyme assays, genetic testing if performed, and any other diagnostic studies supporting the diagnosis of sphingolipidosis.
- Specialties:Genetics, metabolic disorders, pediatrics, neurology
- Place of Service:Inpatient Hospital, Outpatient Hospital, Office