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syndroom van microcefalie, hypoplasie van cerebellum en cardiale geleidingsstoornis (aandoening)
syndroom van microcefalie, hypoplasie van cerebellum en cardiale geleidingsstoornis
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
Zaki Gleeson syndrome
Microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome
A rare genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behavior, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.
Id764732004
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van cerebellum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified