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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 metacarpale
syndroom van lissencefalie type 3 en dysplasie van os metacarpi
Lissencephaly type 3 metacarpal bone dysplasia syndrome
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome 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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ04.3
TermOverige onderontwikkeling van hersenen
TargetQ74.0
TermOverige congenitale misvormingen van bovenste extremiteit(en), inclusief schoudergordel
SNOMED CT to Orphanet simple map86822
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