| niet-progressieve, voornamelijk posterieure, caviterende leukencefalopathie met perifere neuropathie (aandoening) | | niet-progressieve, voornamelijk posterieure, caviterende leukencefalopathie met perifere neuropathie | | Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy | | A rare mitochondrial disease with characteristics of a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients and marked recovery of milestones may be observed. |
| | Id | 1220598005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 436271 |
| SNOMED CT to ICD-10 extended map | | Target | G93.4 | | Rule | TRUE | | Advice | ALWAYS G93.4 | 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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