| autosomaal recessieve spastische paraplegie type 39 (aandoening) | | autosomaal recessieve spastische paraplegie type 39 | | SPG39
spastische paraplegie door neuropathische target esterase-mutatie
spastische paraplegie door NTE-mutatie
| | Autosomal recessive spastic paraplegia type 39 | | Spastic paraplegia due to neuropathy target esterase mutation
Spastic paraplegia due to NTE (neuropathy target esterase) mutation
| | A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. |
| | Id | 719103009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G11.4 | | Term | Hereditaire spastische paraplegie |
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| SNOMED CT to Orphanet simple map | 139480 |
| SNOMED CT to ICD-10 extended map | | Target | G11.4 | | Rule | TRUE | | Advice | ALWAYS G11.4 | 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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