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syndroom van lissencefalie type 3 en dysplasie van metacarpus (aandoening)
syndroom van lissencefalie type 3 en dysplasie van metacarpus
syndroom van lissencefalie type 3 en dysplasie van os metacarpi
syndroom van lissencefalie type 3 en dysplasie van os metacarpale
Lissencephaly type 3 metacarpal bone dysplasia syndrome
This syndrome has characteristics of severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphism and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.
Id718720007
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van metacarpus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ74.0
RuleTRUE
AdviceALWAYS Q74.0
CorrelationSNOMED CT source code to target map code correlation not specified