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syndroom van aniridie, agenesie van nier en psychomotorische retardatie (aandoening)
syndroom van aniridie, agenesie van nier en psychomotorische retardatie
syndroom van Sommer-Rathbun-Battles
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.
Id733116005
StatusPrimitive
Associated morphologyagenesie
Finding sitegehele nier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyaplasia
Finding sitestructuur van iris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
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