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X-gebonden syndroom van verstandelijke beperking, acromegalie en hyperactiviteit (aandoening)
X-gebonden syndroom van verstandelijke beperking, acromegalie en hyperactiviteit
X-gebonden syndroom van mentale retardatie, acromegalie en hyperactiviteit
X-gebonden syndroom van verstandelijke handicap, acromegalie en hyperactiviteit
X-linked intellectual disability with acromegaly and hyperactivity syndrome
This syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.
Id719826004
StatusPrimitive
Has interpretationverhoogd
InterpretsHormone production
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