X-linked hereditary motor and sensory neuropathy
X-linked recessive hereditary disease
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X-linked Charcot-Marie-Tooth disease type 5 (disorder)
X-linked Charcot-Marie-Tooth disease type 5
A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infancy to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral profound prelingual sensorineural hearing loss and progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.
X-gebonden hereditaire motorisch-sensibele neuropathie type 5
X-gebonden HMSN type 5
X-gebonden hereditaire motorisch-sensorische neuropathie type 5
Id763460007
StatusPrimitive
Finding sitePeripheral nervous system structure
OccurrenceCongenital
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