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ernstige vroeg optredende axonale neuropathie door mitofusine-2-deficiƫntie (aandoening)
ernstige vroeg optredende axonale neuropathie door mitofusine-2-deficiƫntie
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency
Autosomal recessive Charcot-Marie-Tooth disease Ouvrier type
Severe early-onset axonal neuropathy due to MFN2 deficiency
Severe early-onset axonal neuropathy due to MFN2 (mitofusin 2) deficiency
A rare axonal hereditary motor and sensory neuropathy with early onset (less than 10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.
Id766977007
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified