| autosomaal dominante intermediaire hereditaire motorische en sensorische neuropathie type D (aandoening) | | autosomaal dominante intermediaire hereditaire motorische en sensorische neuropathie type D | | autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type D
DI-CMT D
DI-HMSN D
| | Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | | A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. |
| | Id | 765747004 | | 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 |
|
| SNOMED CT to Orphanet simple map | 100046 |
| 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 |
|
|
