ICD-11 code : 5C53.24;
Preferred Label : Leigh syndrome;
ICD-11 definition : Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological
disease defined by specific neuropathological features associating brainstem and basal
ganglia lesions. Loss of motor milestones, hypotonia with poor head control, recurrent
vomiting, and a movement disorder are common initial symptoms. Pyramidal and extrapyramidal
signs, nystagmus, breathing disorders, ophthalmoplegia and peripheral neuropathy are
often noted later. Epilepsy is relatively uncommon. Leigh syndrome has multiple causes,
all of which imply a defect in aerobic energy production, ranging from the pyruvate
dehydrogenase complex to the oxidative phosphorylation pathway.;
ICD-11 synonym : Infantile subacute necrotizing encephalopathy; Leigh disease; Subacute necrotising encephalopathy; subacute necrotising encephalomyelopathy;
Origin ID : 672871576;
UMLS CUI : C0023264;
Currated CISMeF NLP mapping
- ICD-10 Mapping
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological
disease defined by specific neuropathological features associating brainstem and basal
ganglia lesions. Loss of motor milestones, hypotonia with poor head control, recurrent
vomiting, and a movement disorder are common initial symptoms. Pyramidal and extrapyramidal
signs, nystagmus, breathing disorders, ophthalmoplegia and peripheral neuropathy are
often noted later. Epilepsy is relatively uncommon. Leigh syndrome has multiple causes,
all of which imply a defect in aerobic energy production, ranging from the pyruvate
dehydrogenase complex to the oxidative phosphorylation pathway.
