1231735008: Isolated bone marrow mastocytosis (disorder)

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

\Mass of body structure\Mass of lymphoreticular structure\Neoplasm of bone marrow (disorder)\A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.
\Mass of body structure\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.

\Disease\Disorder of hematopoietic cell proliferation (disorder)\Myeloproliferative disorder (disorder)\A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.
\Disease\Disorder of hematopoietic cell proliferation (disorder)\Mast cell neoplasm (disorder)\Systemic mast cell disease (disorder)\A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of hematopoietic cell type (disorder)\Mast cell neoplasm (disorder)\Systemic mast cell disease (disorder)\A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Neoplasm affecting hematopoietic structure (disorder)\A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Myeloproliferative disorder (disorder)\A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Neoplasm of bone marrow (disorder)\A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.
\Disease\Disorder of body system\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.
\Disease\Systemic disease\Systemic mast cell disease (disorder)\A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5400204012 A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400205013 A rare subtype of indolent systemic mastocytosis characterised by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5074067014 Isolated bone marrow mastocytosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5074068016 Isolated bone marrow mastocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7761421000241111 mastocytose isolée de la moelle osseuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7761431000241113 mastocytose médullaire isolée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3395671001000111 Mastozytose des Knochenmarks, isolierte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.	Is a	Indolent systemic mastocytosis	false	Inferred relationship	Some
A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.	Is a	Neoplasm affecting hematopoietic structure (disorder)	true	Inferred relationship	Some
A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.	Is a	Neoplasm of bone marrow (disorder)	true	Inferred relationship	Some
A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.	Is a	Myeloproliferative disorder (disorder)	true	Inferred relationship	Some
A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.	Finding site	Bone marrow structure	true	Inferred relationship	Some	1
A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.	Associated morphology	Bone marrow mastocytosis (morphologic abnormality)	true	Inferred relationship	Some	1
A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.	Is a	Systemic mast cell disease (disorder)	true	Inferred relationship	Some

Inbound Relationships

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5400204012	A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400205013	A rare subtype of indolent systemic mastocytosis characterised by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5074067014	Isolated bone marrow mastocytosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5074068016	Isolated bone marrow mastocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7761421000241111	mastocytose isolée de la moelle osseuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7761431000241113	mastocytose médullaire isolée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3395671001000111	Mastozytose des Knochenmarks, isolierte	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module