aplasia cutis congenita, high myopia, and Cone-Rod dysfunction

Preferred Label : aplasia cutis congenita, high myopia, and Cone-Rod dysfunction;

Origin ID

C563394;

UMLS CUI

C1832826;

CISMeF manual mappings
- Aplasia cutis with myopia syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aplasia cutis - myopia [ICD-11 More detail]
- Aplasia cutis congenita, high myopia, and cone-rod dysfunction [OMIM Phenotype]
- Aplasia cutis-myopia syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- ectodermal dysplasia [MeSH Descriptor]
- myopia [MeSH Descriptor]
- nystagmus, congenital [MeSH Descriptor]
- vision disorders [MeSH Descriptor]
Record concept(s)
- aplasia cutis congenita, high myopia, and Cone-Rod dysfunction [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aplasia cutis congenita, high myopia, and cone-rod dysfunction [OMIM Phenotype]
- Aplasia cutis-myopia syndrome [ORDO Disease]