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X-gebonden syndroom van verstandelijke beperking, hypotonie, faciale dysmorfie en agressief gedrag (aandoening)
X-gebonden syndroom van verstandelijke beperking, hypotonie, faciale dysmorfie en agressief gedrag
X-gebonden syndroom van verstandelijke handicap, hypotonie, faciale dysmorfie en agressief gedrag
X-gebonden syndroom van mentale retardatie, hypotonie, faciale dysmorfie en agressief gedrag
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome
This syndrome is characterized by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behavior. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.
Id719157002
StatusPrimitive
Interpretsspiertonus
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