Coloboma of the Eye

Preferred Label : Coloboma of the Eye;

NCIt definition : An abnormality in which a part of a structure in one or both eyes is missing.;

Origin ID

C98877;

UMLS CUI

C0009363;

Automatic exact mappings (from CISMeF team)
- Coloboma of iris [ICD-11 Subcategory]
Currated CISMeF NLP mapping
- Coloboma [MedDRA Preferred Term]
- Coloboma [HPO term]
- Coloboma [PASCAL descriptor]
- Coloboma of eye (disorder) [Inactive SNOMED CT concept]
- Coloboma, ocular, autosomal recessive [OMIM Phenotype]
- Colobomata [MedDRA LLT]
- Microphthalmia/coloboma 12 [OMIM Phenotype]
- Ocular coloboma [ORDO Disease]
- coloboma [MeSH concept]
- coloboma [MeSH Descriptor]
- coloboma [Disease (Nov.)]
- coloboma [DO Concept]
- coloboma of eye, nos [SNOMED Notion]
DO Cross reference
- coloboma [DO Concept]
Has associated anatomic sites
- Eye [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Coloboma [MedDRA Preferred Term]
- Coloboma [HPO term]
- Coloboma of eye (disorder) [Inactive SNOMED CT concept]
- Colobomata [MedDRA LLT]
- Congenital ocular coloboma (disorder) [SNOMED CT concept]
- Microphthalmia/coloboma 12 [OMIM Phenotype]
- Ocular coloboma [ORDO Disease]
- coloboma [MeSH concept]
- coloboma [MeSH Descriptor]
- coloboma [DO Concept]
- coloboma of eye, nos [SNOMED Notion]
- congenital ocular coloboma, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Congenital ocular coloboma (disorder) [SNOMED CT concept]
- congenital ocular coloboma, nos [SNOMED Notion]
disease_has_primary_anatomic_site
- Eye [NCIt concept]