Preferred Label : Brachyolmia;
ICD-11 definition : Brachyolmia is a spondylodysplastic dysplasia characterized by childhood onset short
trunk-short stature and generalized platyspondyly without significant epiphyseal or
metaphyseal changes in the long bones. There are four main types: The Hobaek type,
with short stature mainly limited to the trunk. The Toledo type, probably identical
to the Hobaek type but with an abnormal excretion of glycosaminoglycans and peripheral
punctate corneal opacities. The Maroteaux type with similar but with irregular and
reduced intervertebral spaces and marked extension of the lateral margins of the vertebrae.
The autosomal dominant type with symptoms somewhat milder than in the other types.;
Origin ID : 1255949169;
UMLS CUI : C0432228;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Brachyolmia is a spondylodysplastic dysplasia characterized by childhood onset short
trunk-short stature and generalized platyspondyly without significant epiphyseal or
metaphyseal changes in the long bones. There are four main types: The Hobaek type,
with short stature mainly limited to the trunk. The Toledo type, probably identical
to the Hobaek type but with an abnormal excretion of glycosaminoglycans and peripheral
punctate corneal opacities. The Maroteaux type with similar but with irregular and
reduced intervertebral spaces and marked extension of the lateral margins of the vertebrae.
The autosomal dominant type with symptoms somewhat milder than in the other types.
