| syndroom van verstandelijke beperking, grof aangezicht, macrocefalie en cerebellaire hypotrofie (aandoening) | | syndroom van verstandelijke beperking, grof aangezicht, macrocefalie en cerebellaire hypotrofie | | syndroom van mentale retardatie, grof aangezicht, macrocefalie en cerebellaire hypotrofie
autosomaal recessieve spinocerebellaire ataxie type 20
syndroom van verstandelijke handicap, grof aangezicht, macrocefalie en cerebellaire hypotrofie
| | Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | | Autosomal recessive spinocerebellar ataxia type 20
SCAR20 - autosomal recessive spinocerebellar ataxia type 20
| | A rare genetic central nervous system malformation syndrome with characteristics of early-onset progressive severe cerebellar ataxia associated with progressive moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia. There is evidence the disease is caused by homozygous mutation in the SNX14 gene on chromosome 6q14. |
| | Id | 782753000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 397709 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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