autosomaal dominante primaire microcefalie (aandoening)
autosomaal dominante primaire microcefalie
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.
Associated morphologycongenitale kleinheid
Finding sitestructuur van hoofd
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map2514
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q02
CorrelationSNOMED CT source code to target map code correlation not specified