Brachydactyly - long thumb

Preferred Label : Brachydactyly - long thumb;

ICD-11 definition : Ataxia-deafness-retardation syndrome is characterised by symmetrical brachydactyly accompanied by a long thumb. Skeletal and joint anomalies, and cardiac conduction defects have also been reported.;

Details

Origin ID

1621041627;

Currated CISMeF NLP mapping
- Brachydactyly-long thumb syndrome [ORDO Disease]
- Long thumb brachydactyly syndrome (disorder) [SNOMED CT concept]
- Long-thumb brachydactyly syndrome [OMIM Phenotype]
- brachydactyly, Long-Thumb type [MeSH Supplementary Concept]
- brachydactyly, Long-Thumb type [MeSH concept]

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