| hereditaire motorische en sensorische neuropathie type 4A (aandoening) | | hereditaire motorische en sensorische neuropathie type 4A | | CMT 4A
ziekte van Charcot-Marie-Tooth type 4A
HMSN 4A
| | Charcot-Marie-Tooth disease type 4A | | Charcot-Marie-Tooth disease type 4A (CMT4A) is a severe, early-onset form of demyelinating Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with manifestation of severe motor retardation and progressive scoliosis. Considered the most frequent of all autosomal recessive forms of CMT. Onset usually occurs in infancy with distal muscle weakness and foot atrophy followed by proximal involvement and then distal weakness in the upper extremities and atrophy of the hands. Vocal cord paresis may also occur. CMT4A is caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. Transmitted in an autosomal recessive manner. |
| | Id | 715796006 | | 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 |
|
| SNOMED CT to Orphanet simple map | 99948 |
| 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 |
|
|
