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Autosomal dominant primary microcephaly (disorder)
Autosomal dominant primary microcephaly
A rare genetic non-syndromic developmental defect during embryogenesis malformation syndrome with characteristics of congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.
autosomaal dominante primaire microcefalie
Id778070003
StatusPrimitive
Associated morphologyCongenital smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetQ02
RuleTRUE
AdviceALWAYS Q02
CorrelationSNOMED CT source code to target map code correlation not specified