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syndroom van ernstige verstandelijke beperking en progressieve spastische diplegie (aandoening)
syndroom van ernstige verstandelijke beperking en progressieve spastische diplegie
syndroom van ernstige verstandelijke handicap en progressieve spastische diplegie
syndroom van ernstige mentale retardatie en progressieve spastische diplegie
Severe intellectual disability, progressive spastic diplegia syndrome
A rare genetic syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.
Id782723007
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified