Autosomal recessive hereditary disorder
Developmental hereditary disorder
Hereditary disorder of nervous system
Microlissencephaly
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Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
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.
syndroom van lissencefalie type 3 met familiaire foetale akinesiesequentie
syndroom van lissencefalie type 3 met familiale foetale akinesie
Id718719001
StatusPrimitive
Associated morphologyCongenital smallness
Finding siteBrain structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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