Autosomal dominant hereditary disorder
Congenital aniridia
Developmental hereditary disorder
Hereditary disorder of the visual system
Multiple system malformation syndrome
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Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)
Aniridia, ptosis, intellectual disability, familial obesity syndrome
An extremely rare syndrome described in three members of a family (a mother and her two children) with the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children and alopecia, cardiac abnormalities and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.
syndroom van aniridie, ptosis, verstandelijke beperking en familiale obesitas
Id720987001
StatusPrimitive
Associated morphologyAbsence
Finding siteIris structure
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