Preferred Label : Primary hypertrophic osteoarthropathy;
ICD-11 definition : Primary hypertrophic osteoarthropathy (PHO) is a clinically heterogeneous familial
disorder characterized by digital clubbing and osteoarthropathy associated with mutations
in the HPGD gene. Variable features include pachydermia in pachydermoperiostosis and
delayed closure of the fontanelles in cranio-osteoarthropathy.;
Origin ID : 792225761;
Automatic exact mappings (from CISMeF team)
Primary hypertrophic osteoarthropathy (PHO) is a clinically heterogeneous familial
disorder characterized by digital clubbing and osteoarthropathy associated with mutations
in the HPGD gene. Variable features include pachydermia in pachydermoperiostosis and
delayed closure of the fontanelles in cranio-osteoarthropathy.
