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syndroom van kleine gestalte, doofheid, disfunctie van neutrofielen en faciale dysmorfie (aandoening)
syndroom van kleine gestalte, doofheid, disfunctie van neutrofielen en faciale dysmorfie
syndroom van Thong-Douglas-Ferrante
Thong Douglas Ferrante syndrome
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
This syndrome has characteristics of short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). It has been described in two siblings.
Id716192009
StatusPrimitive
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Pathological processafwijkend immuunproces
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1
CorrelationSNOMED CT source code to target map code correlation not specified