5C56.1

ICD-11 MMS 2026-01

Neuronal ceroid lipofuscinosis

Description

Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterised clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.

Index terms

  • Neuronal ceroid lipofuscinosis
  • Batten disease
  • NCL - [neuronal ceroid lipofuscinosis]
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  • amaurotic familial idiocy
  • amaurotic idiocy
  • amaurotic idiot
  • cerebromacular degeneration
  • cerebromacular dystrophy
  • ceroid-lipofuscinosis
  • neuronal lipofuscinosis
  • pigmentary retinal lipoid neuronal heredodegeneration
  • Congenital neuronal ceroid lipofuscinosis
  • Congenital NCL - [neuronal ceroid lipofuscinosis]
  • Infantile neuronal ceroid lipofuscinosis
  • Hagberg-Santavuori disease
  • Infantile NCL - [neuronal ceroid lipofuscinosis]
  • Lysosomal palmitoyl protein thioesterase deficiency
  • Santavuori disease
  • Santavuori-Haltia disease
  • infantile amaurotic familial disease
  • infantile cerebral lipidosis
  • Late infantile neuronal ceroid lipofuscinosis
  • Bielschowsky Jansky amaurotic idiocy
  • Bielschowsky Jansky amaurotic idiot
  • Bielschowsky Jansky type neuronal ceroid lipofuscinosis
  • Bielschowsky disease
  • Dollinger-Bielschowsky syndrome
  • Dollinger-Bielschowsky type neuronal ceroid lipofuscinosis
  • Jansky-Bielschowsky disease
  • LINCL - [late infantile neuronal ceroid lipofuscinosis]
  • Lysosomal pepstatin-insensitive peptidase deficiency
  • amaurotic idiocy late infantile type
  • infantile cerebrum lipidosis
  • late familial amaurotic idiocy
  • Juvenile neuronal ceroid lipofuscinosis
  • Batten-Mayou disease
  • Batten-Mayou syndrome
  • Batten-Spielmeyer-Vogt disease
  • Juvenile NCL - [neuronal ceroid lipofuscinosis]
  • Lysosomal transmembrane CLN3 protein deficiency
  • Spielmeyer-Vogt disease
  • Spielmeyer-Vogt type neuronal ceroid lipofuscinosis
  • amaurotic idiocy early juvenile type
  • amaurotic idiocy juvenile type
  • Adult neuronal ceroid lipofuscinosis
  • Adult NCL - [neuronal ceroid lipofuscinosis]
  • Kufs disease
  • Kufs type neuronal ceroid lipofuscinosis
  • adult-type amaurotic idiocy
  • Finnish variant of late infantile neuronal ceroid lipofuscinosis
  • CLN8 disease, Northern epilepsy variant
  • Northern epilepsy
  • Progressive epilepsy-intellectual deficit, Finnish type
  • Variant late infantile neuronal ceroid lipofuscinosis
  • Neuronal ceroid lipofuscinosis type 10
  • CLN10 disease
  • Cathepsin D deficiency
  • Cerebral lipidoses
  • cerebral lipidosis
  • cerebrum lipidosis
  • Cerebral lipidosis myoclonic variant
  • Cerebroretinal lipidosis

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

  • 5C56.0 – Sphingolipidosis
  • 5C56.2 – Glycoproteinosis
  • 5C56.3 – Mucopolysaccharidosis
  • 5C56.4 – Disorders of sialic acid metabolism
  • 5C56.Y – Other specified lysosomal diseases
  • 5C56.Z – Lysosomal diseases, unspecified

Foundation entity

Neuronal ceroid lipofuscinosis – http://id.who.int/icd/entity/1568332253

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