Cole-Carpenter syndrome

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.;

Details

Origin ID

1458793358;

Currated CISMeF NLP mapping
- Cole Carpenter syndrome [MeSH concept]
- Cole-Carpenter Syndrome [NCIt concept]
- Cole-Carpenter dysplasia (disorder) [SNOMED CT concept]
- Cole-Carpenter syndrome [ORDO Disease]
- Cole-Carpenter syndrome [DO Concept]
- Cole-carpenter syndrome [OMIM phenotypic series]
- cole carpenter syndrome [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Cole-carpenter syndrome 1 [OMIM Phenotype]

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