Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia

Preferred Label : Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia;

CISMeF synonym : brachyphalangy, polydactyly, and tibial aplasia/hypoplasia;

MeSH synonym : brachyphalangy, polydactyly and absent tibiae;

Details

Origin ID

C537100;

UMLS CUI

C1864965;

Currated CISMeF NLP mapping
- Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia [OMIM Phenotype]
Has phenotype(s) (HPO)
- Broad phalanges of the thumb [HPO term]
- High-arched palate [HPO term]
- Hypoplasia of the toes [HPO term]
- Knee contractures [HPO term]
- Thin lips [HPO term]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- foot deformities, congenital [MeSH Descriptor]
- polydactyly [MeSH Descriptor]
- tibia [MeSH Descriptor]
Record concept(s)
- Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia [OMIM Phenotype]

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