| syndroom van hereditaire motorische en sensorische neuropathie, doofheid en verstandelijke beperking (aandoening) | | syndroom van hereditaire motorische en sensorische neuropathie, doofheid en verstandelijke beperking | | syndroom van hereditaire motorische en sensorische neuropathie, doofheid en mentale retardatie
syndroom van ziekte van Charcot-Marie-Tooth, doofheid en mentale retardatie
syndroom van CMT, doofheid en mentale retardatie
syndroom van HMSN, doofheid en verstandelijke handicap
| | Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | | Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers
| | A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease. |
| | Id | 763136000 | | Status | Primitive |
| referentieset met complexe 'mapping' naar ICD-10 | | Target | G60.0 | | Rule | TRUE | | Advice | ALWAYS G60.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H90.5 | | Rule | TRUE | | Advice | ALWAYS H90.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | F79.9 | | Rule | TRUE | | Advice | ALWAYS F79.9 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
