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lissencefalie type 2 zonder betrokkenheid van spieren of ogen (aandoening)
lissencefalie type 2 zonder betrokkenheid van spieren of ogen
'cobblestone'-lissencefalie zonder betrokkenheid van spieren of ogen
Cobblestone lissencephaly without muscular or ocular involvement
Cobblestone lissencephaly without muscular or eye involvement
Lissencephaly type 2 without muscular or ocular involvement
Lissencephaly type 2 without muscular or eye involvement
A rare genetic cobblestone lissencephaly disease with characteristics of the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.
Id785299009
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