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lissencefaliesyndroom type Norman-Roberts (aandoening)
lissencefaliesyndroom type Norman-Roberts
microlissencefalie type A
Lissencephaly syndrome Norman Roberts type
Microlissencephaly type A
Lissencephaly syndrome, Norman-Roberts type is the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Severe intellectual deficit, spasticity and epilepsy are also present. Mutations in the RELN gene (7q22) have been identified in some patients. Transmission is autosomal recessive.
Id717977003
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitebotstructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified