thumbs, stiff, with brachydactyly type A1 and developmental delay

Preferred Label : thumbs, stiff, with brachydactyly type A1 and developmental delay;

Origin ID

C566053;

UMLS CUI

C1861166;

Automatic exact mappings (from CISMeF team)
- Thumb stiffness-brachydactyly-intellectual disability syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Thumbs, stiff, with brachydactyly type a1 and developmental delay [OMIM Phenotype]
MeSH term(s) associated for indexing
- brachydactyly [MeSH Descriptor]
- developmental disabilities [MeSH Descriptor]
- thumb [MeSH Descriptor]
Record concept(s)
- thumbs, stiff, with brachydactyly type A1 and developmental delay [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thumbs, stiff, with brachydactyly type a1 and developmental delay [OMIM Phenotype]