| hereditaire motorische en sensorische neuropathie met hyperelastische huid (aandoening) | | hereditaire motorische en sensorische neuropathie met hyperelastische huid | | HMSN met hyperelastische huid
ziekte van Charcot-Marie-Tooth met hyperelastische huid
CMT met hyperelastische huid
erfelijke sensorimotorische neuropathie met hyperelastische huid
| | Hereditary sensorimotor neuropathy with hyperelastic skin | | A rare genetic demyelinating hereditary motor and sensory neuropathy disorder with characteristics of slowly progressive mild to moderate distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (for example pectus excavatus, dolichocephaly) may also be associated. There is evidence the disease is caused by heterozygous mutation in the gene encoding fibulin-5 (FBLN5) on chromosome 14q32. |
| | Id | 782881002 | | 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 | 280598 |
| SNOMED CT to ICD-10 extended map | | Target | G60.0 | | Rule | TRUE | | Advice | ALWAYS G60.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
