hereditary macular coloboma - CISMeF

CISMeF

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Hereditary macular colobomaMeSH Supplementary Concept

Preferred Label : hereditary macular coloboma;

MeSH synonym : agenesis of macula; macular coloboma; coloboma of macula;

Détails

Origin ID

C535968;

UMLS CUI

C1852767;

Automatic exact mappings (from CISMeF team)
- Macular coloboma [HRDO Sign]
- coloboma [DO Concept]
Currated CISMeF NLP mapping
- Coloboma of macula [OMIM Phenotype]
- Coloboma of macula [ICD-11 Subcategory]
- Coloboma of macula [ORDO Disease]
- Congenital coloboma of macula lutea (disorder) [SNOMED CT concept]
- Macular coloboma [HPO term]
HPO term
- Macular coloboma [HPO term]
MeSH term(s) associated for indexing
- coloboma [MeSH Descriptor]
- macula lutea [MeSH Descriptor]
Record concept(s)
- Hereditary macular coloboma [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Coloboma of macula [OMIM Phenotype]
- Coloboma of macula [ORDO Disease]
- Congenital coloboma of macula lutea (disorder) [SNOMED CT concept]
- Macular coloboma [HPO term]

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29/07/2025

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