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polymicrogyrie door mutatie van bètatubuline 2B klasse IIb (aandoening)
polymicrogyrie door mutatie van bètatubuline 2B klasse IIb
TUBB2B-gerelateerde polymicrogyrie
Polymicrogyria due to TUBB2B mutation
Polymicrogyria due to tubulin beta 2B class IIb mutation
A rare genetic complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy).
Id1208935007
StatusPrimitive
SNOMED CT to Orphanet simple map300573
SNOMED CT to ICD-10 extended map
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