cranioectodermal dysplasia

Preferred Label : cranioectodermal dysplasia;

MeSH note : mutation in IFT122;

MeSH synonym : levin syndrome I; sensenbrenner syndrome;

Origin ID

C562966;

UMLS CUI

C0432235;

Currated CISMeF NLP mapping
- Cranioectodermal Dysplasia [NCIt concept]
- Cranioectodermal dysplasia [ICD-11 More detail]
- Cranioectodermal dysplasia [OMIM phenotypic series]
- Cranioectodermal dysplasia [ORDO Disease]
- Cranioectodermal dysplasia (disorder) [SNOMED CT concept]
- cranioectodermal dysplasia [DO Concept]
MeSH term(s) associated for indexing
- bone and bones [MeSH Descriptor]
- craniosynostoses [MeSH Descriptor]
- ectodermal dysplasia [MeSH Descriptor]
Record concept(s)
- cranioectodermal dysplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cranioectodermal dysplasia [ORDO Disease]
- Cranioectodermal dysplasia 1 [OMIM Phenotype]
Validated automatic mappings to BTNT
- Cranioectodermal dysplasia 1 [OMIM Phenotype]