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cardiospondylocarpofaciaal syndroom (aandoening)
cardiospondylocarpofaciaal syndroom
syndroom van mitralisklepinsufficiƫntie, doofheid en skeletafwijkingen
syndroom van Forney
syndroom van Forney-Robinson-Pascoe
Cardiospondylocarpofacial syndrome
Forney Robinson Pascoe syndrome
Forney syndrome
Mitral regurgitation with deafness and skeletal anomalies syndrome
This syndrome has characteristics of mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.
Id720612000
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretshartfunctie
Has interpretationgestoord
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