Preferred Label : Brachyolmia type 1, Hobaek type;
ICD-11 definition : Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia, a group
of rare genetic skeletal disorders, and is characterized by short stature, short trunk,
platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities.;
Origin ID : 1213374086;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia, a group
of rare genetic skeletal disorders, and is characterized by short stature, short trunk,
platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities.
