Brachydactyly type A1

Preferred Label : Brachydactyly type A1;

ICD-11 definition : Brachydactyly type A1 is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.;

Details

Origin ID

568452529;

UMLS CUI

C1862151;

Currated CISMeF NLP mapping
- Brachydactyly type A1 [MeSH concept]
- Brachydactyly type A1 [ORDO Disease]
- Brachydactyly type A1 (disorder) [SNOMED CT concept]
- Brachydactyly, type a1 [OMIM Phenotype]
- Type A1 brachydactyly [HPO term]
- brachydactyly type A1 [DO Concept]
- brachydactyly type A1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly type A1 [MeSH concept]
- Brachydactyly type A1 [ORDO Disease]
- Brachydactyly type A1 (disorder) [SNOMED CT concept]
- Brachydactyly, type a1 [OMIM Phenotype]
- Type A1 brachydactyly [HPO term]
- brachydactyly type A1 [DO Concept]
- brachydactyly type A1 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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