Long-thumb brachydactyly syndrome

Preferred Label : Long-thumb brachydactyly syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Brachydactyly, long-thumb type;

Inheritance : Autosomal dominant;

Prefixed ID : 112430;

Details

Origin ID

112430;

UMLS CUI

C1862169;

Currated CISMeF NLP mapping
- Brachydactyly - long thumb [ICD-11 More detail]
- Brachydactyly-long thumb syndrome [ORDO Disease]
- Long thumb brachydactyly syndrome (disorder) [SNOMED CT concept]
- brachydactyly, Long-Thumb type [MeSH concept]
- brachydactyly, Long-Thumb type [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Arrhythmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Long thumb [HPO term]
- Short finger [HPO term]
- Symmetric brachydactyly [HPO term]
ORDO concept(s)
- Brachydactyly-long thumb syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly-long thumb syndrome [ORDO Disease]
- Long thumb brachydactyly syndrome (disorder) [SNOMED CT concept]
- brachydactyly, Long-Thumb type [MeSH Supplementary Concept]
- brachydactyly, Long-Thumb type [MeSH concept]

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