Aortic arch interruption, facial palsy, and retinal coloboma

Preferred Label : Aortic arch interruption, facial palsy, and retinal coloboma;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : ? Autosomal dominant;

Prefixed ID : 107550;

Détails

Origin ID

107550;

UMLS CUI

C1862681;

Currated CISMeF NLP mapping
- aortic arch interruption, facial palsy, and retinal coloboma [MeSH concept]
- aortic arch interruption, facial palsy, and retinal coloboma [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Coarctation of aorta [HPO term]
- Facial palsy [HPO term]
- Hypoplastic/atretic transverse aortic arch [HPO term]
- Interrupted aortic arch [HPO term]
- Linear nevus sebaceous [HPO term]
- Macular coloboma [HPO term]
- Retinal coloboma [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- aortic arch interruption, facial palsy, and retinal coloboma [MeSH Supplementary Concept]
- aortic arch interruption, facial palsy, and retinal coloboma [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients