2026 ICD-10-CM Diagnosis Code E71.510Zellweger syndrome

ICD-10-CM Codes›E00–E89›E70-E88›E71

ICD-10-CM E71.510
CMSSource: CMS FY 2026 ICD-10-CM dataset · Effective Oct 1, 2025 – Sep 30, 2026

E71.510 is a billable ICD-10-CM diagnosis code for zellweger syndrome. It is valid on HIPAA claims for fiscal year 2026 (October 1, 2025 through September 30, 2026). In AHRQ's Clinical Classifications Software (CCSR), this diagnosis falls under Other specified and unspecified nutritional and metabolic disorders.

Code Identity

ICD-10-CM Code
E71.510
Billable Status
Yes — Valid for Submission
Code Describes
Zellweger syndrome
Short Description
Zellweger syndrome
Same as the full description in the CMS dataset.
Parent Code
E71.51
Disorders of peroxisome biogenesis

Code Classification

ChapterE00–E89Endocrine, nutritional and metabolic diseases
SectionE70-E88Metabolic disorders
CategoryE71Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
This CodeE71.510Zellweger syndrome

Approximate SynonymsGuidance

Alternate terms and clinical phrases that map to this code.

  • Zellweger syndrome

Index to Diseases and InjuriesGuidance

Alphabetical index entries that point to this code.

External Cause of Injuries IndexGuidance

References for this code in the External Cause of Injuries Index.

    • Disorder(of)
      • peroxisomal
        • biogenesis
          • Zellweger syndrome
    • Syndrome
      • Zellweger syndrome
    • Zellweger's syndrome

Clinical ClassificationClinical

AHRQ’s CCSR groups this code into broader clinical categories.

CCSR END016
Other specified and unspecified nutritional and metabolic disorders
Default principal diagnosis: inpatient Yes · outpatient Yes

Clinical InformationClinical

  • Zellweger Syndrome

    an autosomal recessive disorder due to defects in peroxisome biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. 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 but seen in children or adults with apparently intact peroxisome biogenesis.

  • PEX2 wt Allele|PAF1|PBD5A|PBD5B|PMP3|PMP35|PXMP3|Peroxin 2 Gene|Peroxisomal Biogenesis Factor 2 wt Allele|Peroxisomal Membrane Protein 3 (35kD, Zellweger Syndrome) Gene|Peroxisomal Membrane Protein 3, 35kDa Gene|Peroxisomal Membrane Protein, 35-kD Gene|Peroxisome Biogenesis Factor 2 Gene|RNF72|ZWS3|Zellweger Syndrome Gene

    human pex2 wild-type allele is located in the vicinity of 8q21.13 and is approximately 21 kb in length. this allele, which encodes peroxisome biogenesis factor 2 protein, is involved in the transport of peroxisomal targeting signal 1 receptor (pex5) to the cytoplasm. mutations in the gene are associated with peroxisomal biogenesis disorder types 5a and 5b.

  • PEX1 wt Allele|HMLR1|PBD1A|PBD1B|Peroxin 1 Gene|Peroxisomal Biogenesis Factor 1 wt Allele|Peroxisome Biogenesis Factor 1 Gene|ZWS|ZWS1|Zellweger Syndrome 1 Gene|Zellweger Syndrome Gene

    human pex1 wild-type allele is located in the vicinity of 7q21.2 and is approximately 42 kb in length. this allele, which encodes peroxisomal atpase pex1 protein, is involved in the formation and functionality of the peroxisome. mutations in the gene are associated with heimler syndrome 1 and peroxisome biogenesis disorder types 1a and 1b.

  • D-Bifunctional Protein Deficiency|D-Bifunctional Enzyme Deficiency|Multifunctional Enzyme Deficiency|Peroxisomal Multifunctional Enzyme (MFE2) Deficiency|Peroxisomal Multifunctional Enzyme Deficiency|Pseudo-Zellweger Syndrome

    a rare, autosomal recessive inherited disorder caused by mutation in the hsd17b4 gene. it is characterized by neurodegeneration that begins in infancy, hypotonia, and seizures. the majority of the affected individuals lack developmental skills.

  • Zellweger Syndrome

    a rare group of autosomal recessive inherited disorders characterized by the reduction or absence of peroxisomes in the tissues. signs and symptoms include increased levels of iron and copper in the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and hypotonia.

Patient EducationClinical

Leukodystrophies

Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your brain and spinal cord. Leukodystrophies damage the white matter of your CNS. The white matter includes:

The full article covers:

  • What are leukodystrophies?
  • What causes leukodystrophies?
  • What are the symptoms of leukodystrophies?
  • How are leukodystrophies diagnosed?
  • What are the treatments for leukodystrophies?

Read the full article at MedlinePlus

Courtesy of MedlinePlus, a service of the U.S. National Library of Medicine.

Convert E71.510 to ICD-9-CMHistory

The closest ICD-9-CM equivalents under the General Equivalence Mappings.

ICD-9-CM
277.86 Peroxisomal disorders
Approximate The match is approximate rather than exact.

Code HistoryHistory

FY 2016AddedAdded to the ICD-10-CM code setEffective October 1, 2015, the first year of ICD-10-CM.
FY 2017–2025No changes
FY 2026CurrentCurrent code set, no changesEffective October 1, 2025 through September 30, 2026.

Questions About E71.510Overview

Is E71.510 (Disorders of peroxisome biogenesis) a billable code?

Yes. This is a billable ICD-10-CM code, specific enough to report zellweger syndrome on HIPAA-covered claims from October 1, 2025 through September 30, 2026.

What is the ICD-9 equivalent of E71.510?

Under the General Equivalence Mappings, zellweger syndrome converts to ICD-9-CM 277.86 (peroxisomal disorders). The mapping is approximate, so confirm the match fits the documentation.

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.