Preferred Label : Xp11.22p11.23 duplication;
ICD-11 definition : Xp11.22-p11.23 microduplication syndrome is a chromosomal anomaly associated with
moderate to severe intellectual deficit and speech delay. Seizures, early puberty
and lower-extremity anomalies, including pes planus or cavus, 5th toe hypoplasia,
and syndactyly, are common.;
ICD-11 synonym : Trisomy Xp11.22p11.23; Xp11.22p11.23 duplication sydnrome;
Origin ID : 834408318;
Currated CISMeF NLP mapping
Xp11.22-p11.23 microduplication syndrome is a chromosomal anomaly associated with
moderate to severe intellectual deficit and speech delay. Seizures, early puberty
and lower-extremity anomalies, including pes planus or cavus, 5th toe hypoplasia,
and syndactyly, are common.
