Preferred Label : King Denborough syndrome;
ICD-11 definition : Rare condition characterised by a susceptibility to malignant hyperthermia, delayed
motor development, short stature, cryptorchidism, skeletal abnormalities, and variable
dysmorphic features. Autosomal dominant inheritance with variable expressivity has
been reported in several cases, although either recessive inheritance, mosaicism or
highly variable penetrance have been described.;
Origin ID : 1140335303;
UMLS CUI : C1840365;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Rare condition characterised by a susceptibility to malignant hyperthermia, delayed
motor development, short stature, cryptorchidism, skeletal abnormalities, and variable
dysmorphic features. Autosomal dominant inheritance with variable expressivity has
been reported in several cases, although either recessive inheritance, mosaicism or
highly variable penetrance have been described.
