Preferred Label : De la Chapelle dysplasia;
ICD-11 definition : Atelosteogenesis II is a autosomal recessive perinatal dysplasia characterised by
shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features.
Patients are stillborn or die soon after birth.;
ICD-11 synonym : Atelosteogenesis type 2;
Origin ID : 248590292;
UMLS CUI : C1850554;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Atelosteogenesis II is a autosomal recessive perinatal dysplasia characterised by
shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features.
Patients are stillborn or die soon after birth.
