brachydactyly types B and E combined

Preferred Label : brachydactyly types B and E combined;

MeSH synonym : pitt williams brachydactyly; brachydactyly ballard type; brachydactyly, combined B and E types; Pitt-Williams brachydactyly; brachydactyly, ballard type;

Details

Origin ID

C537094;

UMLS CUI

C1862163;

CISMeF manual mappings
- Ballard syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Ballard syndrome [DO Concept]
- Ballard syndrome [ICD-11 More detail]
- Ballard syndrome [ORDO Disease]
- Brachydactyly, combined b and e types [OMIM Phenotype]
Has phenotype(s) (HPO)
- Short 4th-5th fingers [HPO term]
- Short, broad thumbs [HPO term]
MeSH term(s) associated for indexing
- brachydactyly [MeSH Descriptor]
Record concept(s)
- Brachydactyly types B and E combined [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ballard syndrome [ORDO Disease]
- Ballard syndrome [DO Concept]
- Ballard syndrome [ICD-11 More detail]
- Ballard syndrome (disorder) [SNOMED CT concept]
- Brachydactyly, combined b and e types [OMIM Phenotype]

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