| autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type D (aandoening) | | autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type D | | RI-CMT D
RI-HMSN D
autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type D
| | Autosomal recessive intermediate Charcot-Marie-Tooth disease type D | | Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain. |
| | Id | 1187567002 | | 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 | 435998 |
| 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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