| hereditaire motorische en sensorische neuropathie type 2R (aandoening) | | hereditaire motorische en sensorische neuropathie type 2R | | ziekte van Charcot-Marie-Tooth type 2R
| | Charcot-Marie-Tooth disease type 2R | | A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. |
| | Id | 774147002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to ICD-10 extended map | | Target | G60.0 | | Rule | TRUE | | Advice | ALWAYS G60.0 | 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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| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G60.0 | | Term | Hereditaire motorische en sensorische neuropathie |
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