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stapes-ankylose met brede digiti I en digiti van voet (aandoening)
stapes-ankylose met brede digiti I en digiti van voet
syndroom van Teunissen-Cremers
stapes-ankylose met brede duimen en tenen
Stapes ankylosis with broad thumb and toe syndrome
Teunissen Cremers syndrome
This syndrome has characteristics of congenital conductive deafness due to stapes ankylosis, broad thumbs and first toes and hyperopia. So far, it has been described in multiple members of six families. Other skeletal malformations were also reported including short distal phalanges and syndactyly, but symphalangism is usually absent. Transmission is autosomal dominant and the syndrome is caused by mutations in the NOG gene (17q22).
Id719305006
StatusPrimitive
Associated morphologyankylose
Finding sitestructuur van stapes
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
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