| autosomaal dominante hereditaire motorische en sensorische neuropathie type 2E (aandoening) | | autosomaal dominante hereditaire motorische en sensorische neuropathie type 2E | | autosomaal dominante HMSN 2E
autosomaal dominante CMT 2E
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2E
| | Autosomal dominant Charcot-Marie-Tooth disease type 2E | | A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Onset is in the first to sixth decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and after years all patients have a pes cavus. Other signs may be present including hearing loss and postural tremor. |
| | Id | 717012004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G60.0 | | Term | Hereditaire motorische en sensorische neuropathie |
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| SNOMED CT to Orphanet simple map | 99939 |
| SNOMED CT to ICD-10 extended map | | Target | G60.0 | | Rule | TRUE | | Advice | ALWAYS G60.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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