| 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 CMT, doofheid en mentale retardatie
syndroom van HMSN, doofheid en verstandelijke handicap
syndroom van hereditaire motorische en sensorische neuropathie, doofheid en mentale retardatie
syndroom van ziekte van Charcot-Marie-Tooth, doofheid en mentale retardatie
| | Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | | Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers
| | Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is 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 |
| 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 |
| Target | H90.5 | | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
| Target | F79.9 | | Term | Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen |
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| SNOMED CT to Orphanet simple map | 90103 |
| 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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