coloboma of macula type B brachydactyly

Preferred Label : coloboma of macula type B brachydactyly;

MeSH synonym : sorsby syndrome; coloboma of macula with type B brachydactyly;

Origin ID

C535969;

UMLS CUI

C1852752;

CISMeF manual mappings
- Coloboma of macula with brachydactyly type B syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Coloboma of macula - brachydactyly type B [ICD-11 More detail]
- Coloboma of macula with type b brachydactyly [OMIM Phenotype]
- Coloboma of macula-brachydactyly type B syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- brachydactyly [MeSH Descriptor]
- coloboma [MeSH Descriptor]
ORDO relation(s)
- Coloboma of macula-brachydactyly type B syndrome [ORDO Disease]
Record concept(s)
- Coloboma of macula type B brachydactyly [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coloboma of macula with brachydactyly type B syndrome (disorder) [SNOMED CT concept]
- Coloboma of macula with type b brachydactyly [OMIM Phenotype]
- Coloboma of macula-brachydactyly type B syndrome [ORDO Disease]