Preferred Label : Pyknoachondrogenesis;
ICD-11 definition : Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe
generalized osteosclerosis with extreme shortening of the limbs and hydrops fetalis
prenatally, or a large head, palpebral edema, a flat nose, low-set ears, a short neck,
a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism at birth.;
Origin ID : 588435239;
Automatic exact mappings (from CISMeF team)
Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe
generalized osteosclerosis with extreme shortening of the limbs and hydrops fetalis
prenatally, or a large head, palpebral edema, a flat nose, low-set ears, a short neck,
a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism at birth.
