ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C57 — Peroxisomal diseases

ICD-11 5C57 — Peroxisomal diseases

Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.

The diagnosis includes nothing.

The diagnosis excludes nothing.

Diagnosis with code 5C57 contains 6 clarifying diagnoses:

  1. 5C57.0 — Disorders of peroxisome biogenesis
  2. 5C57.1 — Disorders of peroxisomal alpha-, beta- or omega-oxidation
  3. 5C51.20 — Primary hyperoxaluria type 1
  4. 8A44.1 — Adrenoleukodystrophy
  5. 5C57.Y — Other specified peroxisomal diseases
  6. 5C57.Z — Peroxisomal diseases, unspecified

The diagnosis is included in 4 other classes.

  • Primary hyperoxaluria type 1 (5C51.20)
  • Adrenoleukodystrophy (8A44.1)
  • Rhizomelic chondrodysplasia punctata (LD24.04)
  • Glutaric aciduria type 3 (5C50.E0)

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