Preferred Label : Geroderma osteodysplasticum;
ICD-11 definition : Geroderma osteodysplastica belongs to the group of cutis laxa syndromes and is characterized
by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen),
progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism,
severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental
delay and mild intellectual deficit.;
Origin ID : 1523755506;
UMLS CUI : C0432255;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Geroderma osteodysplastica belongs to the group of cutis laxa syndromes and is characterized
by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen),
progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism,
severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental
delay and mild intellectual deficit.