cole carpenter syndrome

Preferred Label : cole carpenter syndrome;

MeSH note : Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features.;

MeSH synonym : Cole-Carpenter syndrome;

Details

Origin ID

C535963;

UMLS CUI

C1862178;

CISMeF manual mappings
- Cole-Carpenter dysplasia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Cole-Carpenter Syndrome [NCIt concept]
- Cole-Carpenter syndrome [DO Concept]
- Cole-Carpenter syndrome [ICD-11 More detail]
- Cole-Carpenter syndrome [ORDO Disease]
- Cole-carpenter syndrome [OMIM phenotypic series]
DO Cross reference
- Cole-Carpenter syndrome [DO Concept]
MeSH term(s) associated for indexing
- craniosynostoses [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- hydrocephalus [MeSH Descriptor]
- osteogenesis imperfecta [MeSH Descriptor]
ORDO relation(s)
- Cole-Carpenter syndrome [ORDO Disease]
Record concept(s)
- Cole Carpenter syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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 1 [OMIM Phenotype]
Validated automatic mappings to BTNT
- Cole-carpenter syndrome 1 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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