Version 2024
Replaced Code

2024 ICD-10-CM Diagnosis Code E75.29

Other sphingolipidosis

ICD-10-CM Code:
E75.29
ICD-10 Code for:
Other sphingolipidosis
Is Billable?
Yes - Valid for Submission
Chronic Condition Indicator: [1]
Chronic
Code Navigator:

Code Classification

  • Endocrine, nutritional and metabolic diseases
    (E00–E89)
    • Metabolic disorders
      (E70-E88)
      • Disorders of sphingolipid metabolism and other lipid storage disorders
        (E75)

E75.29 is a billable diagnosis code used to specify a medical diagnosis of other sphingolipidosis. The code is valid during the current fiscal year for the submission of HIPAA-covered transactions from October 01, 2023 through September 30, 2024.

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

  • 4H leukodystrophy
  • 4H leukodystrophy
  • Adult onset autosomal dominant leukodystrophy
  • Alkaline ceramidase 3 deficiency
  • C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
  • Combined malformation of central nervous system and skeletal muscle
  • Deficiency of arylsulfatase
  • Deficiency of cerebroside-sulfatase
  • Deficiency of N-acetylgalactosamine-6-sulfatase
  • Deficiency of placental function
  • Deficiency of steryl-sulfatase
  • Deficiency of steryl-sulfatase
  • Deficiency of steryl-sulfatase
  • Dementia due to leukodystrophy
  • Disorder of placental endocrine function
  • Encephalopathy due to prosaposin deficiency
  • Galactosylceramide lipidosis
  • Hereditary cerebellar atrophy
  • Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
  • Leukodystrophy
  • Metachromatic leukodystrophy
  • Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency
  • Multiple sulfatase deficiency
  • Muscle eye brain disease with bilateral multicystic leukodystrophy
  • Neuroaxonal dystrophy
  • Neuroaxonal leukodystrophy
  • NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
  • Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy
  • Odontoleukodystrophy
  • Ovarioleukodystrophy
  • Pelizaeus Merzbacher like disease
  • Pelizaeus Merzbacher like disease
  • Pelizaeus Merzbacher like disease
  • Pelizaeus Merzbacher like disease
  • Pelizaeus Merzbacher like disease due to AIMP1 mutation
  • Pelizaeus Merzbacher like disease due to GJC2 mutation
  • Pelizaeus Merzbacher like disease due to HSPD1 mutation
  • Pelizaeus Merzbacher like disease due to SLC16A2 mutation
  • Pelizaeus-Merzbacher disease
  • Pelizaeus-Merzbacher disease in female carrier
  • Pelizaeus-Merzbacher disease null syndrome
  • Pelizaeus-Merzbacher disease, classic form
  • Pelizaeus-Merzbacher disease, connatal variant
  • Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease
  • Placental sulfatase deficiency
  • Premature ovarian failure
  • RARS-related autosomal recessive hypomyelinating leukodystrophy
  • RNA polymerase III-related leukodystrophy
  • Spastic tetraplegia
  • Spongy degeneration of central nervous system
  • TUBB4A-related leukodystrophy
  • TUBB4A-related leukodystrophy
  • Type III transitional Pelizaeus-Merzbacher disease
  • Type IV adult Pelizaeus-Merzbacher disease
  • Type V atypical Pelizaeus-Merzbacher disease
  • Type VI Cockayne Pelizaeus-Merzbacher disease
  • Vanishing white matter disease
  • VPS11-related autosomal recessive hypomyelinating leukodystrophy
  • Waardenburg syndrome
  • X-linked ichthyosis with steryl-sulfatase deficiency

Clinical Classification

Clinical CategoryCCSR Category CodeInpatient Default CCSROutpatient Default CCSR
Other nervous system disorders (often hereditary or degenerative)NVS006N - Not default inpatient assignment for principal diagnosis or first-listed diagnosis.N - Not default outpatient assignment for principal diagnosis or first-listed diagnosis.
Other specified and unspecified nutritional and metabolic disordersEND016Y - Yes, default inpatient assignment for principal diagnosis or first-listed diagnosis.Y - Yes, default outpatient assignment for principal diagnosis or first-listed diagnosis.

Clinical Information

  • Waardenburg Syndrome

    rare, autosomal dominant disease with variable penetrance and several known clinical types. characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. the underlying cause may be defective development of the neural crest (neurocristopathy). waardenburg's syndrome may be closely related to piebaldism. klein-waardenburg syndrome refers to a disorder that also includes upper limb abnormalities.
  • Other Sphingolipidosis|Other sphingolipidosis

    evidence of other sphingolipidosis not specified elsewhere.
  • Sphingolipidosis

    an inherited metabolic disorder that affects the metabolism of the spinhgolipids. representative examples include gaucher disease, tay-sachs disease, and niemann-pick disease.
  • Adrenoleukodystrophy|Schilder Disease

    a rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. it leads to progressive neurologic disorders, adrenal insufficiency and death.
  • Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia|ALSP|HDLS|Hereditary Diffuse Leukoencephalopathy with Spheroids|POLD|Pigmentary Orthochromatic Leukodystrophy

    a rapidly progressive neurodegenerative disorder, caused by mutations in the colony-stimulating factor 1 receptor (csf1r) gene, that presents in adulthood with a variety of neuropsychiatric and motor disturbances. hallmark features include diffuse myelin loss and axonal destruction, neuroaxonal spheroids, and pigmented macrophages and other glia.
  • ARSA wt Allele|Arylsulfatase A wt Allele|MLD|Metachromatic Leucodystrophy Gene|Metachromatic Leukodystrophy Gene

    human arsa wild-type allele is located in the vicinity of 22q13.33 and is approximately 3 kb in length. this allele, which encodes arylsulfatase a protein, plays a role in the catabolism of cerebroside sulfate. mutation of the gene is associated with leukodystrophy metachromatic.
  • ATP-Binding Cassette Sub-Family D Member 1|ABCD1|ALDP|Adrenoleukodystrophy Protein|EC 7.6.2.4

    atp-binding cassette sub-family d member (745 aa, ~83 kda) is encoded by the human abcd1 gene. this protein plays a role in the peroxisomal import of fatty acids and fatty acyl-coenzyme a (acylcoa) esters.
  • Canine Globoid Cell Leukodystrophy

    globoid cell leukodystrophy that occurs in a dog.
  • Cerebral Adrenoleukodystrophy|CALD

    a subtype of adrenoleukodystrophy (ald) occurring in approximately 40 percent of boys with ald, primarily affecting the cerebrum, resulting in rapidly declining neurocognitive function and in most patients, premature death.
  • Hypomyelinating Leukodystrophy-6|HABC|HLD6|Hypomyelination with Atrophy of Basal Ganglia and Cerebellum

    a genetic disorder of infancy or early childhood caused by mutation(s) in the tubb4a gene, encoding the tubulin beta-4a chain. it is characterized by hypomyelination or atrophy of the cerebellum and or putamen leading to delayed motor development, gait instability, and extrapyramidal movement disorders.
  • Hypomyelinating Leukodystrophy-8|4H Syndrome|HLD8|Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome

    an autosomal recessive condition caused by mutation(s) in the polr3b gene, encoding dna-directed rna polymerase iii subunit rpc2. it is characterized by early onset cerebellar ataxia and mild intellectual disability. diffuse cerebral hypomyelination and cerebellar atrophy are apparent on mri. hypogonadotropic hypogonadism and hypodontia are also features of this condition.
  • Krabbe Disease|Galactosylceramide Beta-Galactosidase Deficiency|Galactosylceramide Lipidosis|Globoid Cell Leukodystrophy|Krabbe disease

    a rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. it is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness.
  • Leukodystrophy

    a group of rare genetic neurodegenerative disorders that affect infants and children. these disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. representative examples include metachromatic leukodystrophy, krabbe disease, canavan disease, and alexander disease.
  • Metachromatic Leukodystrophy|Metachromatic leukodystrophy

    an autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. it is caused by a deficiency of the enzyme arylsulfatase a. there are three forms of this disease: late infantile, juvenile, and adult. in the late infantile form symptoms include muscle weakness and rigidity, gait disturbances, developmental delays, and seizures. in the juvenile form symptoms include gait disturbances, mental deterioration and seizures. the adult form is characterized by psychotic symptoms and dementia.
  • Neonatal Adrenoleukodystrophy

    a rare metabolic disorder that affects neonates. it is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. it manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma.
  • PSAP wt Allele|GLBA|PARK24|PSAPD|Prosaposin wt Allele|SAP1|SAP2|Variant Gaucher Disease and Variant Metachromatic Leukodystrophy Gene

    human psap wild-type allele is located within 10q21-q22 and is approximately 35 kb in length. this allele, which encodes prosaposin protein, plays a role in the positive regulation of lipid hydrolysis. mutation of the gene is associated with combined saposin deficiency, leukodystrophy metachromatic due to saposin-b deficiency, gaucher disease, atypical, due to saposin c deficiency, krabbe disease, atypical, due to saposin a deficiency and tay-sachs disease.

Replaced Code

This code was replaced in the 2024 ICD-10-CM code set with the code(s) listed below. The National Center for Health Statistics (NCHS) has published an update to the ICD-10-CM diagnosis codes which became effective October 1, 2023. This code was replaced for the FY 2024 (October 1, 2023 - September 30, 2024).


  • E75.27 - Pelizaeus-Merzbacher disease
  • E75.28 - Canavan disease

Tabular List of Diseases and Injuries

The following annotation back-references are applicable to this diagnosis code. The Tabular List of Diseases and Injuries is a list of ICD-10-CM codes, organized "head to toe" into chapters and sections with coding notes and guidance for inclusions, exclusions, descriptions and more.


Inclusion Terms

Inclusion Terms
These terms are the conditions for which that code is to be used. The terms may be synonyms of the code title, or, in the case of "other specified" codes, the terms are a list of the various conditions assigned to that code. The inclusion terms are not necessarily exhaustive. Additional terms found only in the Alphabetic Index may also be assigned to a code.
  • Farber's syndrome
  • Sulfatide lipidosis

Index to Diseases and Injuries References

The following annotation back-references for this diagnosis code are found in the injuries and diseases index. The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10-CM code(s).

Convert E75.29 to ICD-9-CM

  • ICD-9-CM Code: 330.0 - Leukodystrophy
    Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code.

Patient Education


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.


[Learn More in MedlinePlus]

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.


[Learn More in MedlinePlus]

Farber lipogranulomatosis

Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (a process known as lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. Researchers had previously categorized Farber lipogranulomatosis into subtypes based on characteristic features, but the condition is now thought to be a spectrum of overlapping signs of symptoms.

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. Signs and symptoms typically first develop in infancy.

In addition to the classic signs, Farber lipogranulomatosis often affects multiple body systems. Affected individuals can have developmental delay, behavioral problems, or seizures. In severe cases, people experience progressive decline in brain and spinal cord (central nervous system) function, a buildup of fluid in the brain (hydrocephalus), loss (atrophy) of brain tissue, paralysis of the arms and legs (quadriplegia), loss of speech, or involuntary muscle jerks (myoclonus).  

People with Farber lipogranulomatosis often have enlarged liver, spleen, and immune system tissues due to massive lipid deposits. Lipid deposits may also occur in the eyes and lungs, leading to vision problems and breathing difficulty. Affected individuals may develop thinning of the bones (osteoporosis) that worsens over time.

Because of the severity of the signs and symptoms of the condition, individuals with Farber lipogranulomatosis generally do not survive past childhood.


[Learn More in MedlinePlus]

Code History

  • FY 2024 - No Change, effective from 10/1/2023 through 9/30/2024
  • FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
  • FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
  • FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
  • FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
  • FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
  • FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
  • FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
  • FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016. This was the first year ICD-10-CM was implemented into the HIPAA code set.

Footnotes

[1] Chronic - a chronic condition code indicates a condition lasting 12 months or longer and its effect on the patient based on one or both of the following criteria:

  • The condition results in the need for ongoing intervention with medical products,treatment, services, and special equipment
  • The condition places limitations on self-care, independent living, and social interactions.