| autosomaal dominante hereditaire motorische en sensorische neuropathie type 2K (aandoening) | | autosomaal dominante hereditaire motorische en sensorische neuropathie type 2K | | autosomaal dominante CMT 2K
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2K
autosomaal dominante HMSN 2K
| | Autosomal dominant Charcot-Marie-Tooth disease type 2K | | A rare form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with characteristics of a mild phenotype, onset during the second decade of life and very slow progression. Walking ability is retained. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. |
| | Id | 719512003 | | 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 | 99944 |
| 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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