Preferred Label : 19q13.11 deletion;
ICD-11 definition : 19q13.11 microdeletion is characterized by several major features including pre and
postnatal growth retardation, slender habitus, severe postnatal feeding difficulties,
microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal
dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes,
thin and dry skin and dysplasic nails.;
ICD-11 synonym : Monosomy 19q13.11; 19q13.11 deletion syndrome;
Origin ID : 1795118895;
Currated CISMeF NLP mapping
19q13.11 microdeletion is characterized by several major features including pre and
postnatal growth retardation, slender habitus, severe postnatal feeding difficulties,
microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal
dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes,
thin and dry skin and dysplasic nails.
