| syndroom van cerebellaire ataxie, verstandelijke beperking, oculomotorische apraxie en cerebellaire cyste (aandoening) | | syndroom van cerebellaire ataxie, verstandelijke beperking, oculomotorische apraxie en cerebellaire cyste | | syndroom van cerebellaire ataxie, verstandelijke handicap, oculomotorische apraxie en cerebellaire cyste
syndroom van Poretti-Boltshauser
syndroom van cerebellaire ataxie, mentale retardatie, oculomotorische apraxie en cerebellaire cyste
| | Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome | | Poretti Boltshauser syndrome
| | A rare neuro-ophthalmological disease with characteristics of nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. Caused by homozygous or compound heterozygous mutation in the LAMA1 gene on chromosome 18p11. |
| | Id | 763344007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G11.1 | | Term | Vroeg optredende cerebellaire ataxie |
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| SNOMED CT to Orphanet simple map | 370022 |
| SNOMED CT to ICD-10 extended map | | Target | G11.1 | | Rule | TRUE | | Advice | ALWAYS G11.1 | 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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