Preferred Label : Monoclonal Mast Cell Activation Syndrome;
NCIt synonyms : MMAS;
NCIt definition : A rare immunological disorder characterized by mast cell activation in the absence
of cutaneous findings. Bone marrow biopsy shows the presence of monoclonal mast cells
that carry the D816V KIT gene mutation and/or express CD25 while not meeting the diagnostic
requirements for systemic mastocytosis. Patients may present with recurrent symptoms,
including hypotension, flushing, headache, abdominal cramping, nausea, diarrhea, arrhythmias,
and bronchoconstriction. Symptoms may be triggered by eating, exertion, environmental
conditions, emotional stress, or insect stings, and treatment may include antihistamines.;
Origin ID : C181652;
UMLS CUI : C4267893;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
