|hereditaire motorische en sensorische neuropathie type 2B2 (aandoening)|
hereditaire motorische en sensorische neuropathie type 2B2
autosomaal recessieve axonale ziekte van Charcot-Marie-Tooth type 2B2
Charcot-Marie-Tooth disease type 2B2
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
An axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. Onset occurs in adulthood (between 26 and 42 years of age) with symmetric moderate to severe weakness of the distal muscles, predominantly affecting the lower extremities. Marked sensory deficits were also reported. Transmitted in an autosomal recessive manner and the disease-causing gene was mapped to chromosome 19q13.3 (MED25).
|referentieset met complexe 'mapping' naar ICD-10|
|Correlation||SNOMED CT source code to target map code correlation not specified|