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familiaire congenitale verlamming van nervus trochlearis (aandoening)
familiaire congenitale verlamming van nervus trochlearis
familiaire aangeboren verlamming van hersenzenuw IV
familiaire congenitale verlamming van vierde hersenzenuw
Familial congenital palsy of trochlear nerve
A rare genetic neuro-ophthalmological disease with characteristics of congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (for example hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported.
Id782679002
StatusDefined
referentieset met complexe 'mapping' naar ICD-10
TargetH49.1
RuleTRUE
AdviceALWAYS H49.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified