Preferred Label : Rhizomelic chondrodysplasia punctata type 2;
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 2 (RCDP2) is associated with DHAPAT mutations.;
ICD-11 synonym : RCDP type 2; RCDP type 2 - [rhizomelic chondrodysplasia punctata type 2]; Isolated DHAP-AT deficiency; Isolated dihydroxyacetone phosphate acyltransferase deficiency;
Origin ID : 179969811;
Currated CISMeF NLP mapping
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 2 (RCDP2) is associated with DHAPAT mutations.
