Preferred Label : Diaphanospondylodysostosis;
ICD-11 definition : Diaphanospondylodysostosis is a skeletal dysplasia characterized by absent ossification
of the vertebral bodies and sacrum associated with variable anomalies (short neck,
a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies
such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate).;
Origin ID : 508093071;
UMLS CUI : C1842691;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Diaphanospondylodysostosis is a skeletal dysplasia characterized by absent ossification
of the vertebral bodies and sacrum associated with variable anomalies (short neck,
a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies
such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate).
