Preferred Label : Meacham syndrome;
ICD-11 definition : Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic
abnormalities, genital defects (true double vagina or septate vagina, absent uterus,
abnormal male gonads in the presence of normal external female genitalia or male pseudohermaphroditism
with abnormal internal female genitalia) and complex cyanotic congenital heart defects.;
Origin ID : 1307620543;
Currated CISMeF NLP mapping
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic
abnormalities, genital defects (true double vagina or septate vagina, absent uterus,
abnormal male gonads in the presence of normal external female genitalia or male pseudohermaphroditism
with abnormal internal female genitalia) and complex cyanotic congenital heart defects.