Chronic brain syndrome
Degenerative disease of the central nervous system
Disorder of sensory function
Genetic disease
Global developmental delay
Hearing loss associated with syndrome
Microcephaly
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Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder)
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
A rare genetic neurological disorder with characteristics of early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. Additional reported manifestations include seizures, optic atrophy, cortical visual impairment, scoliosis, and dysphagia. Brain imaging shows pontine hypoplasia, partial agenesis of the corpus callosum, and diffuse cerebral atrophy with relative sparing of the cerebellum.
syndroom van vroeg optredende progressieve encefalopathie, gehoorverlies, hypoplasie van pons en atrofie van hersenen
syndroom van vroeg optredende progressieve encefalopathie, gehoorverlies, hypoplasie van pons en hersenatrofie
Id1169356004
StatusPrimitive
Clinical courseProgressive
Finding siteStructure of auditory system
Pathological processPathological developmental process
Has interpretationImpaired
InterpretsHearing
Has interpretationBelow reference range
InterpretsHead circumference
Associated morphologyAtrophy
Finding siteBrain structure
OccurrenceInfancy
ICD-10 complex map reference set
TargetQ07.8
RuleTRUE
AdviceALWAYS Q07.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified