| autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type A (aandoening) | | autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type A | | RI-CMT A
autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type A
RI-HMSN A
| | Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | | RI-CMT (recessive intermediate Charcot-Marie-Tooth) type A
| | A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of severe, early childhood-onset Charcot-Marie-Tooth neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. Caused by homozygous mutation in the GDAP1 gene on chromosome 8q21. |
| | Id | 773308001 | | 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 | 217055 |
| 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 |
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