Preferred Label : Infantile systemic hyalinosis;
ICD-11 definition : Infantile systemic hyalinosis is a very rare disorder belonging to the heterogeneous
group of genetic fibromatoses and is characterized by progressive joint contractures,
skin abnormalities, severe chronic pain and widespread deposition of hyaline material
in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal
tract, lymph nodes, spleen, thyroid, and adrenal glands.;
Origin ID : 2089325724;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Infantile systemic hyalinosis is a very rare disorder belonging to the heterogeneous
group of genetic fibromatoses and is characterized by progressive joint contractures,
skin abnormalities, severe chronic pain and widespread deposition of hyaline material
in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal
tract, lymph nodes, spleen, thyroid, and adrenal glands.
