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ontwikkelingsachterstand en epileptische encefalopathie gerelateerd aan contactinegeassocieerde proteïne 2 (aandoening)
CNTNAP2-gerelateerde ontwikkelingsachterstand en epileptische encefalopathie
CDFE-syndroom
ontwikkelingsachterstand en epileptische encefalopathie gerelateerd aan contactinegeassocieerde proteïne 2
CNTNAP2-related developmental and epileptic encephalopathy
Cortical dysplasia, focal epilepsy syndrome
Contactin associated protein 2-related developmental and epileptic encephalopathy
A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive.
Id1230376005
StatusPrimitive
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationgestoord
Interpretsintellectueel vermogen
SNOMED CT to ICD-10 extended map
TargetQ04.8
RuleTRUE
AdviceALWAYS Q04.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified