infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) DEPRECATED
infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom
Leigh-syndroom met nefrotisch syndroom
Leigh syndrome with nephrotic syndrome
Leigh disease with nephrotic syndrome
Infantile subacute necrotizing encephalopathy with nephrotic syndrome
A rare genetic neurometabolic disease with characteristics of encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome.
Id783157004
StatusPrimitive
Concept inactivation indicator reference set900000000000483008 | obsoleet component | (2023-07-31)
REPLACED BY association reference set29570005 | infantiele subacute necrotiserende encefalopathie | (2023-07-31)
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE88.8
TermOverige gespecificeerde stofwisselingsstoornissen
SNOMED CT to Orphanet simple map255249