|||
'cyclin-dependent kinase-like 5'-syndroom (aandoening)
'cyclin-dependent kinase-like 5'-syndroom
CDKL5-deficiƫntiestoornis
infantiele epileptische encefalopathie type 2
CDKL5-epilepsie
CDKL5-syndroom
CDKL5-gerelateerde epileptische encefalopathie
CDKL5 developmental and epileptic encephalopathy
CDKL5-DEE - CDKL5 - developmental and epileptic encephalopathy
Cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy
CDKL5-DEE - cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy
CDKL5 deficiency disorder
A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.
Id773230003
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map505652
SNOMED CT to ICD-10 extended map
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