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Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder)
Ectopia lentis, chorioretinal dystrophy, myopia syndrome
This syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.
syndroom van ectopia lentis, choroidoretinale dystrofie en myopie
syndroom van ectopia lentis, chorioretinale dystrofie en myopie
Id722437006
StatusPrimitive
Associated morphologyCongenital ectopia
Finding siteLens clear
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDystrophy
Finding siteChoroidal structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDystrophy
Finding siteRetinal 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