8A44.3 Certain specified leukodystrophies

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2025-01

code elsewhere

• Phenylketonuria  (5C50.0)
• Refsum disease  (5C57.1)
• Cerebrotendinous xanthomatosis  (5C52.11)
• Leber hereditary optic neuropathy  (8C73.Y)
• Cystic leukoencephalopathy without megalencephaly  (5C55.2)
• Gaucher disease  (5C56.0Y)
• Niemann-Pick disease  (5C56.0Y)
• Tay-Sachs disease  (5C56.00)
• Oculo-dento-digital dysplasia  (LD27.0Y)

synonyms

• Certain specified leukodystrophies
• CACH syndrome
• Vanishing white matter disease
• Childhood ataxia with central nervous system hypomyelination
• Congenital or early infantile CACH syndrome
• Cree leukoencephalopathy
• Juvenile or adult CACH syndrome
• Ovarioleukodystrophy
• Late infantile CACH syndrome
• Rare leukodystrophies
• Hypomyelination with atrophy of basal ganglia or cerebellum
• Leukoencephalopathy with bilateral anterior temporal lobe cysts
• Megaloencephalic leukoencephalopathy with subcortical cysts
• Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy
• Nasu-Hakola disease
• PLOSL - [Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy]
• Progressive cavitating leukoencephalopathy
• RAVINE syndrome
• Réunion anorexia, vomiting which is irrepressible, and neurological signs
• Hypomyelination - hypogonadotropic hypogonadism - hypodontia
• Adult-onset leukodystrophy with axonal spheroids
• hereditary diffuse leukoencephalopathy with axonal spheroids

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