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'cyclin-dependent kinase-like 5'-syndroom (aandoening)
'cyclin-dependent kinase-like 5'-syndroom
CDKL5-gerelateerde epileptische encefalopathie
CDKL5-deficiƫntiestoornis
infantiele epileptische encefalopathie type 2
CDKL5-epilepsie
CDKL5-syndroom
Cyclin-dependent kinase-like 5 deficiency
CDKL5 deficiency disorder
CDKL5-related epileptic encephalopathy
CDKL5 (cyclin-dependent kinase-like 5) deficiency
Disease with characteristics of seizures that are resistant to treatment and begin in infancy. Development is impaired most children have severe intellectual disability and little or no speech. Common features include stereotypies, bruxism, disrupted sleep, feeding difficulties and gastrointestinal problems. Some individuals have distinctive facial features including a high and broad forehead, large and deep-set eyes, a well-defined philtrum, high palate. Microcephaly, scoliosis and tapered fingers have also been reported. Caused by mutations in the CDKL5 gene, which disrupts brain development. Inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome however almost all cases of this condition result from de novo mutations in the CDKL5 gene.
Id773230003
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