ICD-11 classes
15 Diseases of the musculoskeletal system or connective...
LD24 — Syndromes with skeletal anomalies as a major feature
LD24.5 — Spondylodysplastic dysplasias
LD24.51 — Hypochondrogenesis
ICD-11 LD24.51 — Hypochondrogenesis
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 characterised 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.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere: