397012002: Cutaneous mastocytosis (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\Cutaneous mastocytosis (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)

\Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Mass of body structure\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)

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

\Mast cell activation syndrome (disorder)\Cutaneous mastocytosis (disorder)

\Non malignant mast cell disease\Cutaneous mastocytosis (disorder)

\General finding of soft tissue\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\General finding of soft tissue\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\General finding of soft tissue\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\Cutaneous mastocytosis (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Cutaneous mastocytosis (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)

\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Cutaneous mastocytosis (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\Cutaneous mastocytosis (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)

\Disease\Disorder of immune function (disorder)\Chronic disease of immune function (disorder)\Cutaneous mastocytosis (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Mast cell disorder (disorder)\Mast cell activation syndrome (disorder)\Cutaneous mastocytosis (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Mast cell disorder (disorder)\Non malignant mast cell disease\Cutaneous mastocytosis (disorder)
\Disease\Disorder of hematopoietic cell proliferation (disorder)\Mast cell neoplasm (disorder)\Cutaneous mastocytosis (disorder)
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Mast cell disorder (disorder)\Mast cell activation syndrome (disorder)\Cutaneous mastocytosis (disorder)
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Mast cell disorder (disorder)\Non malignant mast cell disease\Cutaneous mastocytosis (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of hematopoietic cell type (disorder)\Mast cell neoplasm (disorder)\Cutaneous mastocytosis (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of hematopoietic cell type (disorder)\Hematologic neoplasm of uncertain behavior\Cutaneous mastocytosis (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplastic disease of uncertain behavior\Hematologic neoplasm of uncertain behavior\Cutaneous mastocytosis (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplastic disease of uncertain behavior\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Chronic disease of immune structure (disorder)\Cutaneous mastocytosis (disorder)
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Mast cell disorder (disorder)\Mast cell activation syndrome (disorder)\Cutaneous mastocytosis (disorder)
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Mast cell disorder (disorder)\Non malignant mast cell disease\Cutaneous mastocytosis (disorder)
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Mast cell disorder (disorder)\Mast cell activation syndrome (disorder)\Cutaneous mastocytosis (disorder)
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Mast cell disorder (disorder)\Non malignant mast cell disease\Cutaneous mastocytosis (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Cutaneous mastocytosis (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Disease\Chronic disease\Chronic disease of immune structure (disorder)\Cutaneous mastocytosis (disorder)
\Disease\Chronic disease\Chronic disease of immune function (disorder)\Cutaneous mastocytosis (disorder)
\Disease\Chronic disease\Chronic disease of skin\Cutaneous mastocytosis (disorder)
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Cutaneous mastocytosis (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)

Status: current, 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

1764930014 Cutaneous mastocytosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1776748010 Cutaneous mastocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

907531000172119 mastocytose cutanée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3444961001000113 Mastozytose, kutane 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
Cutaneous mastocytosis (disorder)	Is a	Non malignant mast cell disease	true	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Is a	Chronic disease of skin	true	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Is a	Chronic disease of immune system (navigational concept)	false	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Is a	Skin lesion	false	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Finding site	Leukocyte	false	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Associated morphology	Mast cell abnormality (morphologic abnormality)	false	Inferred relationship	Some	1
Cutaneous mastocytosis (disorder)	Course	Chronic	false	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Cutaneous mastocytosis (disorder)	Associated morphology	White blood cell abnormality	false	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Is a	Chronic disease of immune function (disorder)	true	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Clinical course	Chronic	true	Inferred relationship	Some	2
Cutaneous mastocytosis (disorder)	Associated morphology	Mast cell abnormality (morphologic abnormality)	false	Inferred relationship	Some	1
Cutaneous mastocytosis (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Cutaneous mastocytosis (disorder)	Is a	Mast cell neoplasm (disorder)	true	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Is a	Hematologic neoplasm of uncertain behavior	true	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Is a	Neoplasm of uncertain behavior of skin	true	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Associated morphology	Cutaneous mastocytosis (morphologic abnormality)	false	Inferred relationship	Some	2
Cutaneous mastocytosis (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Cutaneous mastocytosis (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	1
Cutaneous mastocytosis (disorder)	Associated morphology	Cutaneous mastocytosis (morphologic abnormality)	true	Inferred relationship	Some	1
Cutaneous mastocytosis (disorder)	Associated morphology	Mast cell abnormality (morphologic abnormality)	true	Inferred relationship	Some	4
Cutaneous mastocytosis (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3
Cutaneous mastocytosis (disorder)	Is a	Mast cell activation syndrome (disorder)	true	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Is a	Chronic disease of immune structure (disorder)	true	Inferred relationship	Some
Cutaneous mastocytosis (disorder)	Finding site	Mast cell (cell)	true	Inferred relationship	Some	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
urticaire pigmentaire	Is a	False	Cutaneous mastocytosis (disorder)	Inferred relationship	Some
Telangiectasia macularis eruptiva perstans	Is a	False	Cutaneous mastocytosis (disorder)	Inferred relationship	Some
Solitary cutaneous mastocytoma (disorder)	Is a	True	Cutaneous mastocytosis (disorder)	Inferred relationship	Some
Diffuse erythrodermic mastocytosis (disorder)	Is a	True	Cutaneous mastocytosis (disorder)	Inferred relationship	Some
Mastocytoma (disorder)	Is a	False	Cutaneous mastocytosis (disorder)	Inferred relationship	Some
Mast cell leukemia affecting skin (disorder)	Is a	False	Cutaneous mastocytosis (disorder)	Inferred relationship	Some
Familial mastocytosis (disorder)	Is a	True	Cutaneous mastocytosis (disorder)	Inferred relationship	Some
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.	Is a	True	Cutaneous mastocytosis (disorder)	Inferred relationship	Some
Bullous diffuse cutaneous mastocytosis	Is a	True	Cutaneous mastocytosis (disorder)	Inferred relationship	Some
Pseudoxanthomatous nodular cutaneous mastocytosis	Is a	True	Cutaneous mastocytosis (disorder)	Inferred relationship	Some
Bullous cutaneous mastocytosis	Is a	True	Cutaneous mastocytosis (disorder)	Inferred relationship	Some
Cutaneous mastocytosis, adult form (disorder)	Is a	True	Cutaneous mastocytosis (disorder)	Inferred relationship	Some
Cutaneous mastocytosis, infantile form (disorder)	Is a	True	Cutaneous mastocytosis (disorder)	Inferred relationship	Some
Congenital cutaneous mastocytosis	Is a	True	Cutaneous mastocytosis (disorder)	Inferred relationship	Some
A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.	Is a	True	Cutaneous mastocytosis (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1764930014	Cutaneous mastocytosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1776748010	Cutaneous mastocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
907531000172119	mastocytose cutanée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3444961001000113	Mastozytose, kutane	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module