Preferred Label : Cole-Carpenter syndrome;
ICD-11 definition : Cole-Carpenter syndrome represents a form of congenital brittle bones syndrome that
manifests with bone fragility, craniosynostosis, ocular proptosis, hydrocephalus,
and distinctive facial features.;
Origin ID : 1458793358;
Currated CISMeF NLP mapping
Validated automatic mappings to BTNT
Cole-Carpenter syndrome represents a form of congenital brittle bones syndrome that
manifests with bone fragility, craniosynostosis, ocular proptosis, hydrocephalus,
and distinctive facial features.