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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 characterized by 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.
Id785726009
StatusPrimitive
Has interpretationafwijkend
Interpretsreflex
InterpretsMovement
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG25.8
TermOverige gespecificeerde extrapiramidale aandoeningen en aandoeningen met abnormale bewegingen
SNOMED CT to Orphanet simple map163985
SNOMED CT to ICD-10 extended map
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