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camptodactyliesyndroom van Tel-Hashomer (aandoening)
camptodactyliesyndroom van Tel-Hashomer
Tel Hashomer camptodactyly syndrome
A rare syndrome with characteristics of camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth. Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. The affected patients usually have normal mental development. The molecular basis of the syndrome has not yet been elucidated.
Id719946008
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetQ74.0
RuleTRUE
AdviceALWAYS Q74.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified