|||||
occipitale pachygyrie en polymicrogyrie (aandoening)
occipitale pachygyrie en polymicrogyrie
occipitale macrogyrie en polymicrogyrie
Occipital pachygyria and polymicrogyria
Occipital MCD (malformation of cortical development)
A rare genetic cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay. There is evidence the disease is caused by homozygous or compound heterozygous mutations in the LAMC3 gene on chromosome 9q34.
Id782879004
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified