Preferred Label : Coloboma of macula - brachydactyly type B;
ICD-11 definition : Coloboma of macula - brachydactyly type B syndrome is characterised by the association
of pigmented macular coloboma and brachydactyly type B. Other anomalies may include:
sensorineural hearing loss, oligodontia (partial absence of teeth), absent kidney,
double uterus and double vagina.;
Origin ID : 1755788361;
Currated CISMeF NLP mapping
Coloboma of macula - brachydactyly type B syndrome is characterised by the association
of pigmented macular coloboma and brachydactyly type B. Other anomalies may include:
sensorineural hearing loss, oligodontia (partial absence of teeth), absent kidney,
double uterus and double vagina.
