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acro-oto-oculair syndroom (aandoening)
acro-oto-oculair syndroom
syndroom van pseudopapiloedeem, blefarofimose en handanomalie├źn
Acro-oto-ocular syndrome
Acrootoocular syndrome
Pseudopapilledema, blepharophimosis and hand anomaly syndrome
Pseudopapilloedema, blepharophimosis and hand anomaly syndrome
A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure) mixed hearing loss, facial dysmorphism and limb extremity anomalies. Only 4 cases have been reported in the literature from 3 inbred sibships. The affected patients have no intellectual deficit. Transmitted as an autosomal recessive trait.
Id720410001
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified