Pachydermoperiostosis

Preferred Label : Pachydermoperiostosis;

ICD-11 definition : Pachydermoperiostosis is a form of primary hypertrophic osteoarthropathy characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. It is more prevalent in males and is usually first evident during adolescence. It is associated with mutations in the HPGD gene.;

ICD-11 synonym : Touraine-Solente-Gole syndrome;

ICD-11 inclusion : Clubbed nail pachydermoperiostosis;

Details

Origin ID

2108615601;

Automatic exact mappings (from CISMeF team)
- Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [OMIM Phenotype]
- Other hypertrophic osteoarthropathy [ICD-10 Sub-category]
- Pachydermoperiostosis [MedDRA Preferred Term]
- Pachydermoperiostosis [PASCAL descriptor]
- Pachydermoperiostosis [ORDO Disease]
- Pachydermoperiostosis syndrome (disorder) [SNOMED CT concept]
- Primary Hypertrophic Osteoarthropathy [NCIt concept]
- osteoarthropathy, primary hypertrophic [MeSH Descriptor]
- osteoarthropathy, primary hypertrophic [MeSH concept]

Keyword's position in hierarchy(ies) :

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