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Aniridia and intellectual disability syndrome (disorder)
Aniridia and intellectual disability syndrome
An extremely rare autosomal dominant developmental defect of the eye described in several members of one family with characteristics of the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.
syndroom van aniridie en verstandelijke beperking
syndroom van Walker-Dyson
syndroom van aniridie en verstandelijke handicap
syndroom van aniridie en mentale retardatie
Id720468000
StatusPrimitive
Associated morphologyAbsence
Finding siteIris structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ13.1
RuleTRUE
AdviceALWAYS Q13.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified