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

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

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0565069;

UMLS CUI

C1848816;

Automatic exact mappings (from CISMeF team)
- Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness [OMIM Phenotype]
Related record
- thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness [MeSH Supplementary 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]

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