Preferred Label : Proteus syndrome;
ICD-11 definition : Proteus syndrome is a sporadic disorder affecting tissue derived from any germinal
layer and resulting in tissue overgrowth in a mosaic pattern. The clinical manifestations
are highly variable and include macrodactyly, vertebral abnormalities, and asymmetric
limb overgrowth and length discrepancy. Hyperostosis, overgrowth of viscera (spleen,
thymus), abnormal and disproportionate fat distribution, asymmetric muscle development,
connective-tissue nevi, epidermal nevi, and vascular malformations may also be seen.
PS is characterized by calcified connective tissue, and elongation of long bones with
abnormal thinning.;
Origin ID : 760267333;
UMLS CUI : C0085261;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Proteus syndrome is a sporadic disorder affecting tissue derived from any germinal
layer and resulting in tissue overgrowth in a mosaic pattern. The clinical manifestations
are highly variable and include macrodactyly, vertebral abnormalities, and asymmetric
limb overgrowth and length discrepancy. Hyperostosis, overgrowth of viscera (spleen,
thymus), abnormal and disproportionate fat distribution, asymmetric muscle development,
connective-tissue nevi, epidermal nevi, and vascular malformations may also be seen.
PS is characterized by calcified connective tissue, and elongation of long bones with
abnormal thinning.
