Brachydactyly types B and E combined

Preferred Label : Brachydactyly types B and E combined;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0531555;

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]
Related record
- brachydactyly types B and E combined [MeSH Supplementary 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]