Craniosynostosis, calcification of basal ganglia, and facial dysmorphism

Preferred Label : Craniosynostosis, calcification of basal ganglia, and facial dysmorphism;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 608432;

Details

Origin ID

608432;

UMLS CUI

C1842058;

Currated CISMeF NLP mapping
- Craniosynostosis-intracranial calcifications syndrome [ORDO Disease]
- craniosynostosis, calcification of basal ganglia, and facial dysmorphism [MeSH concept]
- craniosynostosis, calcification of basal ganglia, and facial dysmorphism [MeSH Supplementary Concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Craniosynostosis [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Microcephaly [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent supraorbital ridges [HPO term]
- Proptosis [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Craniosynostosis-intracranial calcifications syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniosynostosis-intracranial calcifications syndrome [ORDO Disease]
- craniosynostosis, calcification of basal ganglia, and facial dysmorphism [MeSH Supplementary Concept]
- craniosynostosis, calcification of basal ganglia, and facial dysmorphism [MeSH concept]

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