Autosomal recessive hereditary disorder
Congenital glaucoma
Developmental hereditary disorder
Hereditary disorder of the visual system
Megalocornea
Secondary glaucoma
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Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
Megalocornea, spherophakia, secondary glaucoma syndrome
A rare genetic non-syndromic developmental defect of the eye disorder with characteristics of congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. Can be caused by homozygous mutation in the LTBP2 gene on chromosome 14q24.
syndroom van megalocornea, sferofakie en secundair glaucoom
Id783246000
StatusPrimitive
Associated morphologyEnlargement
Finding siteCorneal 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