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syndroom van microcefalie, hypogammaglobulinemie en abnormale immuniteit (aandoening)
syndroom van microcefalie, hypogammaglobulinemie en abnormale immuniteit
syndroom van Say-Barber-Miller
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
Say Barber Miller syndrome
Syndrome with characteristics of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. It has been reported in two brothers born to normal parents. Additional features include hypogonadism, flexion contractures, hypoplastic patella, scoliosis, eczema and recurrent infections. The characteristic facies were marked by sloping forehead, beaked nose, large protruding ears and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were detected in both boys during infancy.
Id721903007
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Pathological processafwijkend immuunproces
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