| hereditaire motorische en sensorische neuropathie type 1F (aandoening) | | hereditaire motorische en sensorische neuropathie type 1F | | HMSN 1F
CMT 1F
ziekte van Charcot-Marie-Tooth type 1F
| | Charcot-Marie-Tooth disease type IF | | Charcot-Marie-Tooth disease type 1F
| | A form of Charcot-Marie-Tooth disease type 1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. The disease has characteristics of progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. Caused by mutations in the NEFL gene (8p21.2). |
| | Id | 719980006 | | 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 | 101085 |
| 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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