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syndroom van keratosis palmoplantaris en hereditaire motorische en sensorische neuropathie (aandoening)
syndroom van keratosis palmoplantaris en hereditaire motorische en sensorische neuropathie
syndroom van palmoplantaire keratodermie en ziekte van Charcot-Marie-Tooth
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome
Palmoplantar keratoderma, Charcot-Marie-Tooth syndrome
A rare genetic autosomal dominant hereditary axonal motor and sensory neuropathy disorder with characteristics of childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifesting with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment and normal or near normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, pain, talipes equinovarus, pes cavus and nail dystrophy.
Id1222646006
StatusPrimitive
Associated morphologyhyperkeratose
Finding sitestructuur van huid van voetzool
SNOMED CT to Orphanet simple map538574
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified