| spastische ataxie en dysartrie door glutaminasedeficiëntie (aandoening) | | spastische ataxie en dysartrie door glutaminasedeficiëntie | | dysarthria en spastische ataxie door tekort aan glutaminase
| | Spastic ataxia, dysarthria due to glutaminase deficiency | | A rare genetic neurometabolic disease with characteristics of childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation and elevated plasma levels of glutamine. Optic atrophy, tremor and dysarthria have also been reported. Brain imaging may show cerebellar atrophy. |
| | Id | 1255323007 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 557056 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | 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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