Preferred Label : Brachyolmia type 1, Toledo type;
ICD-11 definition : Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia, a group
of rare genetic skeletal disorders, and is characterized by short stature, short trunk,
and platyspondyly, as well as corneal opacities.;
Origin ID : 637954533;
UMLS CUI : C1849048;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia, a group
of rare genetic skeletal disorders, and is characterized by short stature, short trunk,
and platyspondyly, as well as corneal opacities.
