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

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

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0563694;

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]
Related record
- aplasia cutis congenita, high myopia, and Cone-Rod dysfunction [MeSH Supplementary 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]