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syndroom van cerebellaire ataxie, hypogonadisme en choroïdale dystrofie (aandoening)
syndroom van cerebellaire ataxie, hypogonadisme en choroïdale dystrofie
syndroom van cerebellaire ataxie, hypogonadisme en dystrofie van choroidea
Boucher Neuhäuser syndrome
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome
A very rare autosomal recessive and slowly progressive neurodegenerative disorder with the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics).
Id715984007
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van choroidea
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG11.8
RuleTRUE
AdviceALWAYS G11.8
CorrelationSNOMED CT source code to target map code correlation not specified