Polydactyly of a triphalangeal thumb

Preferred Label : Polydactyly of a triphalangeal thumb;

ICD-11 definition : Polydactyly of a triphalangeal thumb is a form of preaxial polydactyly of fingers, characterized by the presence of a usually opposable triphalangeal thumb which may or may not be duplicated. Its shape may vary (wedge to rectangular) and it can be deviated in the radio-ulnar plane (clinodactyly). The involved ligaments, muscles, tendons and joints of the duplicated thumb from distal interphalangeal joint to radiocarpal joint can be hypoplastic, malformed, or absent with varying degrees of stiffness or instability. Two forms have been characterized: unilateral and bilateral. The disease is inherited in an autosomal dominant manner.;

Details

Origin ID

728781925;

UMLS CUI

C1868114;

Currated CISMeF NLP mapping
- Polydactyly of a triphalangeal thumb [ORDO Disease]
- Polydactyly of triphalangeal thumb (disorder) [SNOMED CT concept]
- Polydactyly, preaxial II [OMIM Phenotype]
See also inter- (CISMeF)
- Patterson-Stevenson-Fontaine syndrome [ORDO Disease]
- Triphalangeal thumb and polysyndactyly syndrome (disorder) [SNOMED CT concept]
- Triphalangeal thumb-polysyndactyly syndrome [ORDO Disease]
- patterson stevenson syndrome [MeSH Supplementary Concept]
- triphalangeal thumb polysyndactyly syndrome [Disease (Nov.)]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Patterson Stevenson Fontaine syndrome (disorder) [SNOMED CT concept]
- Polydactyly of a triphalangeal thumb [ORDO Disease]
- Polydactyly of triphalangeal thumb (disorder) [SNOMED CT concept]
- Polydactyly, preaxial II [OMIM Phenotype]
- Split-foot deformity with mandibulofacial dysostosis [OMIM Phenotype]
- Triphalangeal thumb and polysyndactyly syndrome (disorder) [SNOMED CT concept]
- Triphalangeal thumb with polysyndactyly [OMIM Phenotype]
- patterson stevenson syndrome [MeSH Supplementary Concept]
- triphalangeal thumb polysyndactyly syndrome [Disease (Nov.)]

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