skeletal dysplasia, san diego type

Preferred Label : skeletal dysplasia, san diego type;

Origin ID

C536670;

UMLS CUI

C2931282;

Currated CISMeF NLP mapping
- Thanatophoric dysplasia type 1 [ORDO Disease]
- Thanatophoric dysplasia, type I [OMIM Phenotype]
MeSH term(s) associated for indexing
- craniosynostoses [MeSH Descriptor]
- thanatophoric dysplasia [MeSH Descriptor]
Record concept(s)
- Skeletal dysplasia, San Diego type [MeSH concept]
See also inter- (CISMeF)
- Type 1 Thanatophoric Dysplasia [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thanatophoric dysplasia type 1 [ORDO Disease]