| hereditaire motorische en sensorische neuropathie type 2B1 (aandoening) | | hereditaire motorische en sensorische neuropathie type 2B1 | | autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2B1
| | Charcot-Marie-Tooth disease type 2B1 | | Autosomal recessive Charcot-Marie-Tooth disease type 2B1
| | An axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy. It has been described exclusively in families originating from North-Western Africa. Onset occurs in the second decade of life. The disease course and severity are variable, even between affected members of the same family. In general, the disease manifests as distal muscle weakness and atrophy that progress gradually to the proximal muscles. Caused by a p.R644C missense mutation in the lamin A/C protein (encoded by the LMNA gene, 1q22). Transmitted in an autosomal recessive manner. |
| | Id | 725048002 | | 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 |
|
| SNOMED CT to Orphanet simple map | 98856 |
| 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 |
|
|
