| 'peripheral myelin protein 2'-gerelateerde motorische en sensorische neuropathie type 1 (aandoening) | | PMP2-gerelateerde motorische en sensorische neuropathie type 1 | | PMP2-gerelateerde ziekte van Charcot-Marie-Tooth type 1
'peripheral myelin protein 2'-gerelateerde motorische en sensorische neuropathie type 1
PMP2-gerelateerde HMSN 1
PMP2-gerelateerde CMT 1
| | PMP2-related Charcot-Marie-Tooth disease type 1 | | PMP2-related hereditary motor and sensory neuropathy type 1
Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1
PMP2-related Charcot-Marie-Tooth neuropathy type 1
| | A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy, distal sensory impairment and decreased or absent reflexes in the affected limbs with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. |
| | Id | 1177165005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 476394 |
| 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 |
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