X-gebonden hereditaire motorisch-sensibele neuropathie type 3 (aandoening)
X-gebonden hereditaire motorisch-sensibele neuropathie type 3
X-gebonden HMSN type 3
X-gebonden hereditaire motorisch-sensorische neuropathie type 3
X-gebonden ziekte van Déjerine-Sottas
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.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermHereditaire motorische en sensorische neuropathie
SNOMED CT to Orphanet simple map101077
SNOMED CT to ICD-10 extended map
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified