ICD-11 code : LD24.51;
Preferred Label : Hypochondrogenesis;
ICD-11 definition : A condition caused by failure of the skeletal system to correctly develop during the
antenatal period, due to mutation of the COL2A1 gene. This condition is characterized
by a small body, short limbs, underdeveloped lungs, flat and oval-shaped face, hypertelorism,
micrognathia, enlarged abdomen, and ossification in the spine and pelvis. This condition
may also present with a cleft palate.;
Origin ID : 1494246635;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- ICD-10 Mapping
- See also inter- (CISMeF)
A condition caused by failure of the skeletal system to correctly develop during the
antenatal period, due to mutation of the COL2A1 gene. This condition is characterized
by a small body, short limbs, underdeveloped lungs, flat and oval-shaped face, hypertelorism,
micrognathia, enlarged abdomen, and ossification in the spine and pelvis. This condition
may also present with a cleft palate.
