Preferred Label : Thanatophoric dysplasia type II;
ICD-11 definition : Thanatophoric dysplasia type II is a form of thanatophoric dysplasia characterized
by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and
a clover-leaf skull (Kleeblattschädel).;
ICD-11 synonym : Thanatophoric dwarfism type 2; Thanatophoric dysplasia type 2; Thanatophoric short stature type 2;
Origin ID : 986127718;
UMLS CUI : C1300257;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Thanatophoric dysplasia type II is a form of thanatophoric dysplasia characterized
by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and
a clover-leaf skull (Kleeblattschädel).