thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness

Preferred Label : thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness;

Origin ID

C564769;

UMLS CUI

C1848816;

Automatic exact mappings (from CISMeF team)
- Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness [OMIM Phenotype]
MeSH term(s) associated for indexing
- coloboma [MeSH Descriptor]
- ear [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- hearing loss, central [MeSH Descriptor]
- thumb [MeSH Descriptor]
Record concept(s)
- thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness [OMIM Phenotype]
- Upper limb defect-eye and ear abnormalities syndrome [ORDO Disease]