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X-linked Charcot-Marie-Tooth disease type 3 (disorder)
X-linked Charcot-Marie-Tooth disease type 3
A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the childhood to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pan sensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.
X-gebonden hereditaire motorisch-sensibele neuropathie type 3
X-gebonden hereditaire motorisch-sensorische neuropathie type 3
X-gebonden ziekte van Déjerine-Sottas
X-gebonden HMSN type 3
Id763458005
StatusPrimitive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified