Ectopia pupillae

Preferred Label : Ectopia pupillae;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Ectopia pupillae is a congenital eye malformation in which the pupils are displaced from their normal central position.;

Inheritance : Autosomal dominant; ? separate from ectopia lentis et pupillae (225200) or ptosis, strabismus and ectopic pupils (178330);

Prefixed ID : 129750;

Détails

Origin ID

129750;

UMLS CUI

C1271219;

Automatic exact mappings (from CISMeF team)
- Ectopia pupillae [ICD-11 More detail]
Currated CISMeF NLP mapping
- Congenital ectopic pupil (disorder) [SNOMED CT concept]
- Ectopia pupillae [HPO term]
- Ectopic pupil (disorder) [SNOMED CT concept]
- corectopia [SNOMED Notion]
- ectopia pupillae [MeSH concept]
- ectopia pupillae [MeSH Supplementary Concept]
- ectopic pupil [Disease (Nov.)]
- ectopic pupil [MeSH concept]
- ectopic pupil [SNOMED Notion]
- pupil disorders [MeSH Descriptor]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Ectopia pupillae [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital ectopic pupil (disorder) [SNOMED CT concept]
- Corectopia [MedDRA Preferred Term]
- Ectopia pupillae [HPO term]
- Ectopic pupil (disorder) [SNOMED CT concept]
- corectopia [SNOMED Notion]
- ectopia pupillae [MeSH Supplementary Concept]
- ectopia pupillae [MeSH concept]
- ectopic pupil [MeSH concept]
- ectopic pupil [SNOMED Notion]

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