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Aniridia, renal agenesis, psychomotor retardation syndrome (disorder)
Aniridia, renal agenesis, psychomotor retardation syndrome
Sommer Rathbun Battles syndrome
An extremely rare syndrome reported in two siblings of non-consanguineous parents with the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.
syndroom van aniridie, agenesie van nier en psychomotorische retardatie
syndroom van Sommer-Rathbun-Battles
Id733116005
StatusPrimitive
Associated morphologyAgenesis
Finding siteEntire kidney
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAplasia
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