SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/771476007
http://purl.bioontology.org/ontology/SNOMEDCT/771476007
Preferred Name

Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

Definitions
A rare neurologic disease characterised by global developmental delay, intellectual disability, multiple ischaemic lesions on brain MRI, behavioural abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures. A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions on brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.
Synonyms
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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