Schneckenbecken dysplasia

Definition

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

Also known as chondrodysplasia with snail-like pelvis, schneckenbecken dysplasia, SLC35D1-CDG — per MONDO

Also identified as

• DOID 0050775 per MONDO
• ICD9 756.9 per MONDO
• MESH C536637 per MONDO
• OMIM 269250 per MONDO
• Orphanet 3144 per MONDO
• SCTID 254049009 per MONDO
• UMLS C0432194 per MONDO