| 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 with characteristics of 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. There is evidence this disease is caused by a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. |
| | 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 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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