| autosomaal dominante intermediaire hereditaire motorische en sensorische neuropathie type F (aandoening) | | autosomaal dominante intermediaire hereditaire motorische en sensorische neuropathie type F | | DI-CMT F
autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type F
DI-HMSN F
| | Autosomal dominant intermediate Charcot-Marie-Tooth disease type F | | A rare hereditary motor and sensory neuropathy disorder with characteristics of the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. Caused by heterozygous mutation in the GNB4 gene on chromosome 3q26. |
| | Id | 770759001 | | 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 | 352670 |
| 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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