Ophthalmoplegia totalis with ptosis and miosis

Preferred Label : Ophthalmoplegia totalis with ptosis and miosis;

Type : Phenotype or locus, molecular basis unknown;

Description : Total ophthalmoplegia involves total paralysis of all extra- and intraocular muscles. If one or more of the external muscles, including the levator palpebrae, is not affected, the condition is known as incomplete or partial ophthalmoplegia. If only 1 nerve is affected, the palsy is named after that nerve (see, e.g., abducens palsy, 100200) (Waardenburg, 1963).;

Inheritance : Autosomal recessive;

Prefixed ID : %258400;

Détails

Origin ID

258400;

UMLS CUI

C1850314;

Currated CISMeF NLP mapping
- ophthalmoplegia totalis with ptosis and miosis [MeSH concept]
- ophthalmoplegia totalis with ptosis and miosis [MeSH Supplementary Concept]
HPO term(s)
- Amblyopia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Miosis [HPO term]
- Ophthalmoplegia [HPO term]
- Ptosis [HPO term]
- Strabismus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ophthalmoplegia totalis with ptosis and miosis [MeSH Supplementary Concept]
- ophthalmoplegia totalis with ptosis and miosis [MeSH concept]

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

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