Cortical defects, wormian bones, and dentinogenesis imperfecta

Preferred Label : Cortical defects, wormian bones, and dentinogenesis imperfecta;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Normal collagen type I studies;

Prefixed ID : 604922;

Details

Origin ID

604922;

UMLS CUI

C1858032;

Currated CISMeF NLP mapping
- Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome (disorder) [SNOMED CT concept]
- Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia [ORDO Disease]
- cortical defects, wormian bones, and dentinogenesis imperfecta [MeSH concept]
- cortical defects, wormian bones, and dentinogenesis imperfecta [MeSH Supplementary Concept]
HPO term(s)
- Asymmetry of the thorax [HPO term]
- Autosomal dominant inheritance [HPO term]
- Carious teeth [HPO term]
- Clinodactyly of the 3rd toe [HPO term]
- Clinodactyly of the 4th toe [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Dentinogenesis imperfecta [HPO term]
- Dolichocephaly [HPO term]
- Epiphyseal streaking [HPO term]
- Hyperostosis [HPO term]
- Hypertelorism [HPO term]
- Increased susceptibility to fractures [HPO term]
- Limited elbow extension [HPO term]
- Periorbital fullness [HPO term]
- Short stature [HPO term]
- Thin ribs [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia [ORDO Disease]
- cortical defects, wormian bones, and dentinogenesis imperfecta [MeSH Supplementary Concept]
- cortical defects, wormian bones, and dentinogenesis imperfecta [MeSH concept]

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