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Isolated lissencephaly type 1 without known genetic defect (disorder)
Isolated lissencephaly type 1 without known genetic defect
A diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.
geïsoleerde lissencefalie type 1 zonder bekend genetisch defect
Id715406003
StatusPrimitive
Associated morphologyMorphologically abnormal structure
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
CorrelationSNOMED CT source code to target map code correlation not specified