Odontoid hypoplasia

Preferred Label : Odontoid hypoplasia;

Type : Phenotype or locus, molecular basis unknown;

Description : The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum of the atlas and separates from the atlas, fusing with the superior portion of the axis. If the odontoid is hypoplastic or absent, the attachments for the apical and alar ligaments are missing, allowing for excessive rotation of the atlas, craniocervical instability, and possibly cord compression (summary by Stevens et al., 2009).;

Inheritance : Autosomal dominant;

Prefixed ID : %613628;

Details

Origin ID

613628;

UMLS CUI

C1846439;

Automatic exact mappings (from CISMeF team)
- Odontoid hypoplasia [HRDO Sign]
Currated CISMeF NLP mapping
- Hypoplasia of the odontoid process [HPO term]
- Odontoid Hypoplasia [NCIt concept]
HPO term(s)
- Atlantoaxial instability [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cervical instability [HPO term]
- Dystopic os odontoideum [HPO term]
- Hypoplasia of the odontoid process [HPO term]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoplasia of the odontoid process [HPO term]
- Odontoid Hypoplasia [NCIt concept]
- Odontoid process hypoplasia [MedDRA Preferred Term]

Keyword's position in hierarchy(ies) :

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