Autosomal recessive hereditary disorder
Cerebellar ataxia
Chronic brain syndrome
Chronic disease of genitourinary system
Hereditary ataxia
Hereditary choroidal dystrophy
Hereditary disorder of endocrine system
Hypogonadotropic hypogonadism
Reproductive system hereditary disorder
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Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
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).
syndroom van cerebellaire ataxie, hypogonadisme en choroïdale dystrofie
syndroom van cerebellaire ataxie, hypogonadisme en dystrofie van choroidea
Id715984007
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteChoroidal structure
Clinical courseProgressive
Finding siteCerebellar structure
Finding siteStructure of distal part of pituitary
Finding siteGonadal endocrine structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.8
RuleTRUE
AdviceALWAYS G11.8
CorrelationSNOMED CT source code to target map code correlation not specified