| autosomaal dominante intermediaire hereditaire motorische en sensorische neuropathie type B (aandoening) | | autosomaal dominante intermediaire hereditaire motorische en sensorische neuropathie type B | | DI-HMSN B
DI-CMT B
autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type B
| | Autosomal dominant intermediate Charcot-Marie-Tooth disease type B | | A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. |
| | Id | 765745007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 100044 |
| 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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