Ballard syndrome

Preferred Label : Ballard syndrome;

ICD-11 definition : Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals.;

ICD-11 synonym : Brachydactyly types B and E combined; Pitt-Williams brachydactyly;

Details

Origin ID

94436217;

UMLS CUI

C1862163;

Currated CISMeF NLP mapping
- Ballard syndrome [DO Concept]
- Ballard syndrome [ORDO Disease]
- Ballard syndrome (disorder) [SNOMED CT concept]
- Brachydactyly types B and E combined [MeSH concept]
- Brachydactyly, combined b and e types [OMIM Phenotype]
- brachydactyly types B and E combined [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ballard syndrome [DO Concept]
- Ballard syndrome [ORDO Disease]
- Ballard syndrome (disorder) [SNOMED CT concept]
- Brachydactyly types B and E combined [MeSH concept]
- Brachydactyly, combined b and e types [OMIM Phenotype]
- brachydactyly types B and E combined [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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