| autosomaal dominante hereditaire motorische en sensorische neuropathie type 2B (aandoening) | | autosomaal dominante hereditaire motorische en sensorische neuropathie type 2B | | autosomaal dominante CMT 2B
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2B
autosomaal dominante HMSN 2B
| | Autosomal dominant Charcot-Marie-Tooth disease type 2B | | A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood. |
| | Id | 717008005 | | 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 | 99936 |
| 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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