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syndroom van hyperekplexie en epilepsie (aandoening)
syndroom van hyperekplexie en epilepsie
Hyperekplexia epilepsy syndrome
A rare X-linked syndromic intellectual disability disease with characteristics of neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. There is the disease is caused by mutation in the ARHGEF9 gene on chromosome Xq22.1.
Id785726009
StatusPrimitive
Has interpretationafwijkend
Interpretsreflex
InterpretsMovement
referentieset met complexe 'mapping' naar ICD-10
TargetG25.8
RuleTRUE
AdviceALWAYS G25.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified