Terminology Service for NFDI4Health

hip dysplasia, Beukes type

Go to external page http://purl.obolibrary.org/obo/MONDO_0007726


Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. [ ]

Term info

Label

hip dysplasia, Beukes type

Synonyms
  • BFHD
  • Beukes familial hip dysplasia
  • Cilliers-Beighton syndrome
  • hip dysplasia, Beukes type
  • premature degenerative osteoarthropathy of the hip
database cross reference
Subsets

ordo_disease

exactMatch

http://identifiers.org/mesh/C564185, http://purl.obolibrary.org/obo/Orphanet_2114, http://purl.obolibrary.org/obo/DOID_0111367, http://identifiers.org/snomedct/721148005, https://omim.org/entry/142669

has related synonym

osteoarthropathy, premature degenerative, of hip, Beukes hip dysplasia, hip dysplasia Beukes type, BHD

id

MONDO:0007726

narrowMatch

https://icd.codes/icd10cm/Q65.8

see also

https://github.com/monarch-initiative/mondo/issues/4948