| autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type B (aandoening) | | autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type B | | RI-HMSN B
autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type B
RI-CMT B
| | Autosomal recessive intermediate Charcot-Marie-Tooth disease type B | | RI-CMT (recessive intermediate Charcot-Marie-Tooth) type B
| | An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. |
| | Id | 773330000 | | 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 | 254334 |
| 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 |
|
|
