| autosomaal dominante hereditaire motorische en sensorische neuropathie type 2Q (aandoening) | | autosomaal dominante hereditaire motorische en sensorische neuropathie type 2Q | | autosomaal dominante ziekte van Charcot-Marie-Tooth type 2Q
autosomaal dominante CMT 2Q
autosomaal dominante HMSN 2Q
| | Autosomal dominant Charcot-Marie-Tooth disease type 2Q | | A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. |
| | Id | 773393001 | | 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 | 329258 |
| 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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