Autosomal dominant hereditary disorder
Congenital ectopic lens
Congenital ptosis of upper eyelid
Developmental hereditary disorder
Hereditary disorder of the visual system
Severe myopia
||||||
Blepharoptosis, myopia, ectopia lentis syndrome (disorder)
Blepharoptosis, myopia, ectopia lentis syndrome
This syndrome has characteristics of bilateral congenital blepharoptosis, ectopia lentis and high myopia. It has been described in three members of one family (in a mother and her two daughters). Transmission appears to be autosomal dominant.
syndroom van blefaroptose, myopie en ectopia lentis
Id717915004
StatusPrimitive
Associated morphologyCongenital ectopia
Finding siteLens clear
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyProlapse
Finding siteUpper eyelid structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ15.8
RuleTRUE
AdviceALWAYS Q15.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified