| 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, slowly progressive neurodegenerative disorder characterized by 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). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. |
| | Id | 715984007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G11.8 | | Term | Overige gespecificeerde vormen van hereditaire ataxie |
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| SNOMED CT to Orphanet simple map | 1180 |
| SNOMED CT to ICD-10 extended map | | Target | G11.8 | | Rule | TRUE | | Advice | ALWAYS G11.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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