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syndroom van lissencefalie type 3 met familiaire foetale akinesiesequentie (aandoening)
syndroom van lissencefalie type 3 met familiaire foetale akinesiesequentie
syndroom van lissencefalie type 3 met familiale foetale akinesie
Lissencephaly type 3 familial fetal akinesia sequence syndrome
This syndrome has characteristics of the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.
Id718719001
StatusPrimitive
Associated morphologyafwijkend klein
Finding sitestructuur van encephalon
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
SNOMED CT to Orphanet simple map86821
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