5C56.1 Neuronal ceroid lipofuscinosis
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
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.
synonyms
- Neuronal ceroid lipofuscinosis
- cerebromacular dystrophy
- cerebromacular degeneration
- ceroid-lipofuscinosis
- NCL - [neuronal ceroid lipofuscinosis]
- amaurotic familial idiocy
- amaurotic idiocy
- amaurotic idiot
- neuronal lipofuscinosis
- Batten disease
- pigmentary retinal lipoid neuronal heredodegeneration
- Congenital neuronal ceroid lipofuscinosis
- Congenital NCL - [neuronal ceroid lipofuscinosis]
- Infantile neuronal ceroid lipofuscinosis
- Hagberg-Santavuori disease
- Santavuori-Haltia disease
- Santavuori disease
- Lysosomal palmitoyl protein thioesterase deficiency
- Infantile NCL - [neuronal ceroid lipofuscinosis]
- infantile amaurotic familial disease
- infantile cerebral lipidosis
- Late infantile neuronal ceroid lipofuscinosis
- Jansky-Bielschowsky disease
- Lysosomal pepstatin-insensitive peptidase deficiency
- LINCL - [late infantile neuronal ceroid lipofuscinosis]
- Dollinger-Bielschowsky syndrome
- Dollinger-Bielschowsky type neuronal ceroid lipofuscinosis
- amaurotic idiocy late infantile type
- late familial amaurotic idiocy
- Bielschowsky disease
- Bielschowsky Jansky amaurotic idiocy
- Bielschowsky Jansky amaurotic idiot
- Bielschowsky Jansky type neuronal ceroid lipofuscinosis
- infantile cerebrum lipidosis
- Juvenile neuronal ceroid lipofuscinosis
- Spielmeyer-Vogt disease
- Lysosomal transmembrane CLN3 protein deficiency
- Batten-Spielmeyer-Vogt disease
- Juvenile NCL - [neuronal ceroid lipofuscinosis]
- amaurotic idiocy early juvenile type
- amaurotic idiocy juvenile type
- Batten-Mayou disease
- Batten-Mayou syndrome
- Spielmeyer-Vogt type neuronal ceroid lipofuscinosis
- Adult neuronal ceroid lipofuscinosis
- Kufs disease
- Adult NCL - [neuronal ceroid lipofuscinosis]
- adult-type amaurotic idiocy
- Kufs type neuronal ceroid lipofuscinosis
- Finnish variant of late infantile neuronal ceroid lipofuscinosis
- Progressive epilepsy-intellectual deficit, Finnish type
- CLN8 disease, Northern epilepsy variant
- Northern epilepsy
- 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
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