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syndroom van ptosis, bovenste oculaire bewegingsbeperking en agenesie van punctum lacrimale (aandoening)
syndroom van ptosis, bovenste oculaire bewegingsbeperking en agenesie van punctum lacrimale
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome
The association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism. It has been described in three siblings. The facial dysmorphism includes a narrow and squared forehead, low set and dysplastic ears, a relatively long philtrum, telecanthus, bilateral thick eyebrows and absence of bilateral lower medial eyelashes. The affected patients have no intellectual deficit. The condition seems to be transmitted as an autosomal recessive trait.
Id724016008
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified