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Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder)
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome
Levic Stefanovic Nikolic syndrome
A rare genetic syndromic intellectual disability disorder with characteristics of congenital external nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.
syndroom van oftalmoplegie, verstandelijke beperking en lingua fissurata
syndroom van oftalmoplegie, verstandelijke handicap en fissuurtong
syndroom van oftalmoplegie, mentale retardatie en lingua scrotalis
Levic-Stefanovic-Nikolic-syndroom
Id782945001
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteEyelid structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyFissure
Finding siteStructure of dorsum of anterior tongue
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified