coloboma - CISMeF

Preferred Label : coloboma;

UMLS semantic type : T019 - Congenital Abnormality;

Origin ID

M0004804;

UMLS CUI

C0009363;

Automatic exact mappings (from CISMeF team)
- Coloboma of iris [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Coloboma [PASCAL descriptor]
- Coloboma [HPO term]
- Coloboma [MedDRA Preferred Term]
- Coloboma of eye (disorder) [Inactive SNOMED CT concept]
- Coloboma of the Eye [NCIt concept]
- Coloboma, ocular, autosomal recessive [OMIM Phenotype]
- Colobomata [MedDRA LLT]
- Microphthalmia/coloboma 12 [OMIM Phenotype]
- Ocular coloboma [ORDO Disease]
- coloboma [DO Concept]
- coloboma [Disease (Nov.)]
- coloboma of eye, nos [SNOMED Notion]
MeSH narrower concept(s)
- Uveoretinal Coloboma [MeSH concept]
Related record
- coloboma [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Coloboma [HPO term]
- Coloboma [MedDRA Preferred Term]
- Coloboma of eye (disorder) [Inactive SNOMED CT concept]
- Coloboma of the Eye [NCIt concept]
- Colobomata [MedDRA LLT]
- Congenital ocular coloboma (disorder) [SNOMED CT concept]
- Microphthalmia/coloboma 12 [OMIM Phenotype]
- Ocular coloboma [ORDO Disease]
- coloboma [DO Concept]
- coloboma of eye, nos [SNOMED Notion]
- congenital ocular coloboma, nos [SNOMED Notion]