ICD-11 code : LD25.00;
Preferred Label : Oral-facial-digital syndrome;
ICD-11 definition : A condition caused by failure of the head and digits to correctly develop during the
antenatal period, due to mutation of the OFD1 gene. This condition may be associated
with cleft or lobed tongue, noncancerous tumors or nodules of the tongue, abnormal
shape or number of teeth, cleft palate, hyperplastic frenula of the lip or gums, cleft
lip, hypertelorism, wide nose with broad, flat nasal bridge, syndactyly, brachydactyly,
clinodactyly, polydactyly, polycystic kidney disease, neurological problems, bone
abnormalities, vision loss, or heart defects.;
Origin ID : 1405407847;
Currated CISMeF NLP mapping
ICD-10 Mapping
Validated automatic mappings to BTNT
Validated automatic mappings to NTBT
A condition caused by failure of the head and digits to correctly develop during the
antenatal period, due to mutation of the OFD1 gene. This condition may be associated
with cleft or lobed tongue, noncancerous tumors or nodules of the tongue, abnormal
shape or number of teeth, cleft palate, hyperplastic frenula of the lip or gums, cleft
lip, hypertelorism, wide nose with broad, flat nasal bridge, syndactyly, brachydactyly,
clinodactyly, polydactyly, polycystic kidney disease, neurological problems, bone
abnormalities, vision loss, or heart defects.