| syndroom van perifere neuropathie, myopathie, heesheid en gehoorverlies (aandoening) | | syndroom van perifere neuropathie, myopathie, heesheid en gehoorverlies | | Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome | | Peripheral neuropathy, myopathy, hoarseness, deafness syndrome
| | A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13. |
| | Id | 782752005 | | 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 |
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| SNOMED CT to Orphanet simple map | 397744 |
| 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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