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corticale dysgenesie met pontocerebellaire hypoplasie door b├Ętatubuline klasse III mutatie (aandoening)
corticale dysgenesie met pontocerebellaire hypoplasie door b├Ętatubuline klasse III mutatie
corticale dysgenesie met pontocerebellaire hypoplasie door 'tubulin beta 3 class III'-mutatie
corticale dysgenesie met pontocerebellaire hypoplasie door TUBB3-mutatie
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation
A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disease with the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Caused by heterozygous mutation in the TUBB3 gene on chromosome 16q24.
Id784344009
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van cerebellum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van pons
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van cortex cerebri
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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