| hereditaire motorische en sensorische neuropathie type 4G (aandoening) | | hereditaire motorische en sensorische neuropathie type 4G | | HMSN 4G
ziekte van Charcot-Marie-Tooth type 4G
CMT 4G
| | Charcot-Marie-Tooth disease type 4G | | Hereditary motor and sensory neuropathy Russe type
| | Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy. Onset occurs between 8 and 16 years of age with distal lower limb weakness, followed by distal upper limb involvement with a more variable age of onset of between 10 and 43 years. Sensory loss is also a prominent feature. The disease-causing gene has not yet been identified but linkage analysis and recombination mapping have led to identification of a small interval on 10q23.2. Transmitted in an autosomal recessive manner. |
| | Id | 715799004 | | 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 | 99953 |
| 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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