Autosomal recessive hereditary disorder
Hereditary disorder of musculoskeletal system
Hereditary metabolic disease
Hereditary myopathy
Hereditary nephropathy
Leigh's disease
Metabolic renal disease
Mitochondrial encephalomyopathy
Nephrotic syndrome
|||||||||
Leigh syndrome with nephrotic syndrome (disorder)
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.
infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom
Leigh-syndroom met nefrotisch syndroom
Id783157004
StatusPrimitive
Has interpretationAbove reference range
InterpretsUrine protein measurement
Associated morphologyDegenerative abnormality
Finding siteBrain structure
Has interpretationBelow reference range
InterpretsAlbumin measurement
Finding siteGlomerulus structure
Finding siteSkeletal muscle structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified