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syndroom van Neuhauser-Eichner-Opitz (aandoening)
syndroom van Neuhauser-Eichner-Opitz
recidiverende encefalopathie op kinderleeftijd
Neuhauser Eichner Opitz syndrome
Recurrent encephalopathy of childhood
A rare genetic neurological disorder with characteristics of infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination.
Id1208339007
StatusPrimitive
Clinical courserecidiverend
SNOMED CT to Orphanet simple map2672
SNOMED CT to ICD-10 extended map
TargetG11.1
RuleTRUE
AdviceALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified