Craniosynostosis with ocular abnormalities and hallucal defects

Preferred Label : Craniosynostosis with ocular abnormalities and hallucal defects;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 608279;

Details

Origin ID

608279;

UMLS CUI

C1842316;

Currated CISMeF NLP mapping
- craniosynostosis with ocular abnormalities and hallucal defects [MeSH concept]
- craniosynostosis with ocular abnormalities and hallucal defects [MeSH Supplementary Concept]
HPO term(s)
- Absent hallux [HPO term]
- Absent toe [HPO term]
- Amblyopia [HPO term]
- Aplasia of the hallux [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Convex nasal ridge [HPO term]
- Craniosynostosis [HPO term]
- Dolichocephaly [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Metatarsus adductus [HPO term]
- Microcornea [HPO term]
- Pectus carinatum [HPO term]
- Prominent forehead [HPO term]
- Ptosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- craniosynostosis with ocular abnormalities and hallucal defects [MeSH Supplementary Concept]
- craniosynostosis with ocular abnormalities and hallucal defects [MeSH concept]

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