Preferred Label : Achondrogenesis type 1B;
ICD-11 definition : Achondrogenesis type 1B, a form of achondrogenesis, is a rare lethal skeletal dysplasia
characterized by severe micromelia with very short fingers and toes, a flat face,
a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant
abdomen, a hydropic fetal appearance and distinctive histological features of the
cartilage.;
ICD-11 synonym : Achondrogenesis, Parenti-Fraccaro type;
Origin ID : 1740585991;
UMLS CUI : C0265274;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Achondrogenesis type 1B, a form of achondrogenesis, is a rare lethal skeletal dysplasia
characterized by severe micromelia with very short fingers and toes, a flat face,
a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant
abdomen, a hydropic fetal appearance and distinctive histological features of the
cartilage.