Preferred Label : 15q13.3 deletion;
ICD-11 definition : 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum
of neurodevelopmental disorders (developmental delay, mainly in speech acquisition,
cognitive impairment, idiopathic generalized epilepsy, neurobehavioral disorders of
the autistic or psychotic spectrum), with no or subtle dysmorphic features.;
ICD-11 synonym : 15q13.3 monosomy syndrome; 15q13.3 microdeletion syndrome;
Origin ID : 1824908852;
UMLS CUI : C2677613;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum
of neurodevelopmental disorders (developmental delay, mainly in speech acquisition,
cognitive impairment, idiopathic generalized epilepsy, neurobehavioral disorders of
the autistic or psychotic spectrum), with no or subtle dysmorphic features.