1220590003: familiaire chilblain lupus erythematodes (aandoening)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...

\Chronic disease of skin\Familial chilblain lupus erythematosus (disorder)

\Autoimmune skin disease\Cutaneous lupus erythematosus\Discoid lupus erythematosus (disorder)\Chilblain lupus erythematosus\Familial chilblain lupus erythematosus (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\Familial chilblain lupus erythematosus (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Autoimmune skin disease\Cutaneous lupus erythematosus\Discoid lupus erythematosus (disorder)\Chilblain lupus erythematosus\Familial chilblain lupus erythematosus (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\Familial chilblain lupus erythematosus (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Autoimmune skin disease\Cutaneous lupus erythematosus\Discoid lupus erythematosus (disorder)\Chilblain lupus erythematosus\Familial chilblain lupus erythematosus (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Familial chilblain lupus erythematosus (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Familial chilblain lupus erythematosus (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Autoimmune skin disease\Cutaneous lupus erythematosus\Discoid lupus erythematosus (disorder)\Chilblain lupus erythematosus\Familial chilblain lupus erythematosus (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\Familial chilblain lupus erythematosus (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Autoimmune skin disease\Cutaneous lupus erythematosus\Discoid lupus erythematosus (disorder)\Chilblain lupus erythematosus\Familial chilblain lupus erythematosus (disorder)

\Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Familial chilblain lupus erythematosus (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Familial chilblain lupus erythematosus (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Familial chilblain lupus erythematosus (disorder)
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Familial chilblain lupus erythematosus (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of immune function (disorder)\Chronic disease of immune function (disorder)\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of immune function (disorder)\Autoimmune disease\Lupus erythematosus\Cutaneous lupus erythematosus\Discoid lupus erythematosus (disorder)\Chilblain lupus erythematosus\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of immune function (disorder)\Autoimmune disease\Autoimmune skin disease\Cutaneous lupus erythematosus\Discoid lupus erythematosus (disorder)\Chilblain lupus erythematosus\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Chronic disease of immune structure (disorder)\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Familial chilblain lupus erythematosus (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\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Autoimmune skin disease\Cutaneous lupus erythematosus\Discoid lupus erythematosus (disorder)\Chilblain lupus erythematosus\Familial chilblain lupus erythematosus (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of connective tissue (disorder)\Lupus erythematosus\Cutaneous lupus erythematosus\Discoid lupus erythematosus (disorder)\Chilblain lupus erythematosus\Familial chilblain lupus erythematosus (disorder)
\Disease\Chronic disease\Chronic disease of immune structure (disorder)\Familial chilblain lupus erythematosus (disorder)
\Disease\Chronic disease\Chronic disease of immune function (disorder)\Familial chilblain lupus erythematosus (disorder)
\Disease\Chronic disease\Chronic disease of skin\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Familial chilblain lupus erythematosus (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Autoimmune skin disease\Cutaneous lupus erythematosus\Discoid lupus erythematosus (disorder)\Chilblain lupus erythematosus\Familial chilblain lupus erythematosus (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

5045309018 Familial chilblain lupus erythematosus (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5045314019 Familial chilblain lupus erythematosus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

13606481000146117 familiale chilblain lupus erythematosus nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13606491000146115 familiaire chilblain lupus erythematodes nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13606501000146113 familiaire chilblain lupus erythematodes (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5045310011 A rare monogenic form of cutaneous lupus erythematosus characterised by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischaemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5045311010 A rare monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial chilblain lupus erythematosus (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial chilblain lupus erythematosus (disorder)	Is a	Chilblain lupus erythematosus	true	Inferred relationship	Some
Familial chilblain lupus erythematosus (disorder)	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Familial chilblain lupus erythematosus (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Familial chilblain lupus erythematosus (disorder)	Due to	Lupus erythematosus	true	Inferred relationship	Some	2
Familial chilblain lupus erythematosus (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Familial chilblain lupus erythematosus (disorder)	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Some	1
Familial chilblain lupus erythematosus (disorder)	Is a	Chronic disease of skin	true	Inferred relationship	Some
Familial chilblain lupus erythematosus (disorder)	Is a	Chronic disease of immune function (disorder)	true	Inferred relationship	Some
Familial chilblain lupus erythematosus (disorder)	Clinical course	Chronic	true	Inferred relationship	Some	3
Familial chilblain lupus erythematosus (disorder)	Is a	Type I interferonopathy	true	Inferred relationship	Some
Familial chilblain lupus erythematosus (disorder)	Is a	Chronic disease of immune structure (disorder)	true	Inferred relationship	Some
Familial chilblain lupus erythematosus (disorder)	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	4
Familial chilblain lupus erythematosus (disorder)	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	4
Familial chilblain lupus erythematosus (disorder)	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Some	4
Familial chilblain lupus erythematosus (disorder)	Is a	Connective tissue hereditary disorder (disorder)	true	Inferred relationship	Some
Familial chilblain lupus erythematosus (disorder)	Finding site	Connective tissue structure	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5045309018	Familial chilblain lupus erythematosus (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045314019	Familial chilblain lupus erythematosus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13606481000146117	familiale chilblain lupus erythematosus	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13606491000146115	familiaire chilblain lupus erythematodes	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13606501000146113	familiaire chilblain lupus erythematodes (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5045310011	A rare monogenic form of cutaneous lupus erythematosus characterised by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischaemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045311010	A rare monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core