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syndroom van agenesie van corpus callosum, verstandelijke beperking, coloboom en micrognathie (aandoening)
syndroom van agenesie van corpus callosum, verstandelijke beperking, coloboom en micrognathie
syndroom van Graham-Cox
syndroom van agenesie van corpus callosum, mentale retardatie, coloboom en micrognathie
syndroom van agenesie van corpus callosum, verstandelijke handicap, coloboom en micrognathie
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
Graham Cox syndrome
A developmental anomaly syndrome with characteristics of coloboma of the iris and optic nerve, facial dysmorphism (high forehead, micro retrognathia, low-set ears) intellectual deficit, agenesis of the corpus callosum, sensorineural hearing loss, skeletal anomalies and short stature. Caused by mutation in the IGBP1 gene.
Id722282008
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van iris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitebotstructuur van mandibula
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyagenesie
Finding sitegeheel corpus callosum
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