16697871000119100: Mast cell activation syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\White blood cell disorder\Mast cell disorder (disorder)\Mast cell activation syndrome (disorder)

\Disease\Disorder of immune function (disorder)\White blood cell disorder\Mast cell disorder (disorder)\Mast cell activation syndrome (disorder)
\Disease\Disorder of cellular component of blood\White blood cell disorder\Mast cell disorder (disorder)\Mast cell activation syndrome (disorder)
\Disease\Disorder of body system\Disorder of immune structure\Mast cell disorder (disorder)\Mast cell activation syndrome (disorder)
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Mast cell disorder (disorder)\Mast cell activation syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3781180014 Mast cell activation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3781182018 Mast cell activation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3781184017 MCAD - mast cell activation disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3781180014 Mast cell activation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3781182018 Mast cell activation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3781184017 MCAD - mast cell activation disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5633681000241113 syndrome d'activation mastocytaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5633681000241113 syndrome d'activation mastocytaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mast cell activation syndrome (disorder)	Is a	Mast cell disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mast cell activation syndrome (disorder)	Finding site	Mast cell	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mast cell activation syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Idiopathic anaphylaxis	Is a	True	Mast cell activation syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cutaneous mastocytosis (disorder)	Is a	True	Mast cell activation syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Indolent systemic mastocytosis	Is a	False	Mast cell activation syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Idiopathic mast cell activation syndrome	Is a	True	Mast cell activation syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Patients present with recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmias, bronchoconstriction, and bleeding diathesis, among others.	Is a	True	Mast cell activation syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets