5C56.01

ICD-11 MMS 2026-01

Fabry disease

Description

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterised by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

Index terms

  • Fabry disease
  • Alpha-galactosidase A deficiency
  • Anderson-Fabry disease
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  • Ceramide trihexosidase deficiency
  • Fabry disease X-linked
  • X-linked dominant Fabry disease
  • X-linked recessive Fabry disease
  • Angiokeratoma corporis diffusum

Exclusions from above levels

  • 5C51.3 – Glycogen storage disease due to LAMP-2 deficiency
  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
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  • 5A71.01 – Congenital adrenal hyperplasia
  • 5A81.1 – 5-alpha-reductase deficiency
  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

  • 5C56.00 – Gangliosidosis
  • 5C56.02 – Metachromatic leukodystrophy
  • 5C56.0Y – Other specified sphingolipidosis
  • 5C56.0Z – Sphingolipidosis, unspecified

Foundation entity

Fabry disease – http://id.who.int/icd/entity/66996647

Allowed postcoordination axes

Part of: 5C56.0: Sphingolipidosis › 5C56: Lysosomal diseases › 05: Endocrine, nutritional or metabolic diseases