Preferred Label : Rhizomelic chondrodysplasia punctata type 3;
ICD-11 definition : This is a rare, developmental brain disorder characterized by systemic shortening
of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections,
and congenital cataracts. Type 3 (RCDP3) is associated with AGPS mutations.;
ICD-11 synonym : RCDP type 3 - [rhizomelic chondrodysplasia punctata type 3]; Isolated alkyl DHAP synthase deficiency; Isolated alkyl dihydroxyacetone phosphate synthase deficiency; RCDP type 3;
Origin ID : 110878063;
UMLS CUI : C1838612;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
This is a rare, developmental brain disorder characterized by systemic shortening
of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections,
and congenital cataracts. Type 3 (RCDP3) is associated with AGPS mutations.
