Preferred Label : Lethal osteosclerotic bone dysplasia;
ICD-11 definition : Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with
periosteal bone formation, characteristic facial dysmorphism, brain abnormalities
including intracerebral calcifications, and neonatal lethal course.The cranial features
are a wide anterior fontanelle, expressed proptosis with everted lower eyelids, severely
depressed nasal bridge, small nose, low-set ears, and severe midface hypoplasia leading
to choanal atresia. The mouth is usually triangular, gum hypertrophy is expressed,
and there may be natal teeth and cleft palate/uvula.;
Origin ID : 1306493470;
UMLS CUI : C1850106;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with
periosteal bone formation, characteristic facial dysmorphism, brain abnormalities
including intracerebral calcifications, and neonatal lethal course.The cranial features
are a wide anterior fontanelle, expressed proptosis with everted lower eyelids, severely
depressed nasal bridge, small nose, low-set ears, and severe midface hypoplasia leading
to choanal atresia. The mouth is usually triangular, gum hypertrophy is expressed,
and there may be natal teeth and cleft palate/uvula.
