osteogenesis imperfecta congenita, microcephaly, and cataracts

Preferred Label : osteogenesis imperfecta congenita, microcephaly, and cataracts;

Origin ID

C537558;

UMLS CUI

C1850184;

CISMeF manual mappings
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Osteogenesis imperfecta congenita, microcephaly, and cataracts [OMIM Phenotype]
Has phenotype(s) (HPO)
- Genu varus [HPO term]
- Short limb dwarfism [HPO term]
- Soft calvaria [HPO term]
- Stillbirth [HPO term]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- osteogenesis imperfecta [MeSH Descriptor]
ORDO relation(s)
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome [ORDO Disease]
Record concept(s)
- Osteogenesis imperfecta congenita, microcephaly, and cataracts [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome [ORDO Disease]
- Osteogenesis imperfecta congenita, microcephaly, and cataracts [OMIM Phenotype]