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syndroom van infantiele spasme en brede duimen (aandoening)
syndroom van infantiele spasme en brede duimen
Tsao-Ellingson-syndroom
syndroom van Tsao-Ellingson
Infantile spasm and broad thumb syndrome
Infantile spasms, broad thumbs syndrome
Tsao Ellingson syndrome
A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (including microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.
Id770438007
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG40.4
RuleTRUE
AdviceALWAYS G40.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified