Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia

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

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

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0531561;

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]
Related record
- Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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