Autosomal recessive hereditary disorder
Chronic metabolic disorder
Chronic nervous system disorder
Disorder of zinc metabolism
Hereditary degenerative disease of central nervous system
Hereditary disorder of the visual system
Hereditary metabolic disease
Oculomotor apraxia
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Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome
Cerebrorenal syndrome Perez type
A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension and a tendency for hyperkalemia.
syndroom van psychomotorische regressie, oculomotorische apraxie, bewegingsstoornis en nefropathie
syndroom van psychomotorische achteruitgang, oculomotorische apraxie, bewegingsstoornis en aandoening van nier
Id1187043002
StatusPrimitive
Clinical courseProgressive
Finding siteStructure of visual system
Associated morphologyDegenerative abnormality
Finding siteStructure of central nervous system
ICD-10 complex map reference set
TargetE83.2
RuleTRUE
AdviceALWAYS E83.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified