| X-gebonden hereditaire motorisch-sensibele neuropathie type 2 (aandoening) | | X-gebonden hereditaire motorisch-sensibele neuropathie type 2 | | X-gebonden HMSN type 2
X-gebonden HMSN van axonaal type
X-gebonden hereditaire motorisch-sensorische neuropathie type 2
X-gebonden ziekte van Charcot-Marie-Tooth type 2
CMT2X
| | X-linked Charcot-Marie-Tooth disease type 2 | | A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infantile to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. |
| | Id | 763457000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 101076 |
| 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 |
|
|
