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syndroom van doofheid, genitale anomalie en metacarpale en metatarsale synostose (aandoening)
syndroom van doofheid, genitale anomalie en metacarpale en metatarsale synostose
syndroom van Pfeiffer-Kapferer
Pfeiffer-Kapferer-syndroom
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
Pfeiffer Kapferer syndrome
This syndrome has characteristics of sensorineural deafness, bilateral synostosis of the fourth and fifth metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).
Id721086004
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van metatarsus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur van metacarpus
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