Preferred Label : Autosomal dominant popliteal pterygium syndrome;
ICD-11 definition : Camptodactyly-taurinuria syndrome is characterized by the association of a hand malformation
involving a contracture deformity of the proximal interphalangeal joints of the fingers
with increased excretion of taurine.;
Origin ID : 2069589860;
Currated CISMeF NLP mapping
Camptodactyly-taurinuria syndrome is characterized by the association of a hand malformation
involving a contracture deformity of the proximal interphalangeal joints of the fingers
with increased excretion of taurine.