726078000: Sporadic Blau syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...
• \Inflammatory dermatosis (disorder)\Sporadic Blau syndrome
• \Dermatosis in childhood (disorder)\Sporadic Blau syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Inflammatory disorder of the eye\Uveitis (disorder)\Sporadic Blau syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis (disorder)\Sporadic Blau syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Inflammatory disorder of the eye\Uveitis (disorder)\Sporadic Blau syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis (disorder)\Sporadic Blau syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Inflammatory disorder of the eye\Uveitis (disorder)\Sporadic Blau syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis (disorder)\Sporadic Blau syndrome
• \Head finding (finding)\Disorder of head (disorder)\Inflammatory disorder of head\Inflammatory disorder of the eye\Uveitis (disorder)\Sporadic Blau syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Dermatosis in childhood (disorder)\Sporadic Blau syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Dermatosis in childhood (disorder)\Sporadic Blau syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Inflammatory disorder of the eye\Uveitis (disorder)\Sporadic Blau syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis (disorder)\Sporadic Blau syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Inflammatory disorder of the eye\Uveitis (disorder)\Sporadic Blau syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis (disorder)\Sporadic Blau syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Dermatosis in childhood (disorder)\Sporadic Blau syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Dermatosis in childhood (disorder)\Sporadic Blau syndrome
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Arthritis (disorder)\A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form.\Sporadic Blau syndrome
• \Musculoskeletal finding (finding)\Joint finding\Inflammation of joint (finding)\Arthritis (disorder)\A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form.\Sporadic Blau syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Inflammatory disorder of musculoskeletal system\Arthritis (disorder)\A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form.\Sporadic Blau syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Arthritis (disorder)\A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form.\Sporadic Blau syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Inflammatory disorder of the eye\Uveitis (disorder)\Sporadic Blau syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis (disorder)\Sporadic Blau syndrome
• \Disease\Disorder of joint region\Arthropathy\Arthritis (disorder)\A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form.\Sporadic Blau syndrome
• \Disease\Genetic disease\A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form.\Sporadic Blau syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form.\Sporadic Blau syndrome
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Arthritis (disorder)\A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form.\Sporadic Blau syndrome
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of the eye\Uveitis (disorder)\Sporadic Blau syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Dermatosis in childhood (disorder)\Sporadic Blau syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Inflammatory disorder of the eye\Uveitis (disorder)\Sporadic Blau syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis (disorder)\Sporadic Blau syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Inflammatory disorder of musculoskeletal system\Arthritis (disorder)\A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form.\Sporadic Blau syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Arthritis (disorder)\A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form.\Sporadic Blau syndrome
• \Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammatory disorder of head\Inflammatory disorder of the eye\Uveitis (disorder)\Sporadic Blau syndrome
• \Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Arthritis (disorder)\A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form.\Sporadic Blau syndrome
• \Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome
• \Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of the eye\Uveitis (disorder)\Sporadic Blau syndrome
• \Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome
• \Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory disorder of the eye\Uveitis (disorder)\Sporadic Blau syndrome
• \Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Arthritis (disorder)\A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form.\Sporadic Blau syndrome
• \Disease\Inflammatory disorder (disorder)\Granulomatous disorder\A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form.\Sporadic Blau syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Inflammatory disorder of the eye\Uveitis (disorder)\Sporadic Blau syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis (disorder)\Sporadic Blau syndrome
• \Disease\Disorder of head (disorder)\Inflammatory disorder of head\Inflammatory disorder of the eye\Uveitis (disorder)\Sporadic Blau syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Dermatosis in childhood (disorder)\Sporadic Blau syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3447950017	Sporadic Blau syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3447951018	Sporadic Blau syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3447952013	Early onset sarcoidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3447953015	A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. There are familial and sporadic forms of the same disease. The disease is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447950017	Sporadic Blau syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3447951018	Sporadic Blau syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3447952013	Early onset sarcoidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3447953015	A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. There are familial and sporadic forms of the same disease. The disease is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
602911000274113	Früh beginnende Sarkoidose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
602921000274118	Blau-Syndrom, sporadische Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
602911000274113	Früh beginnende Sarkoidose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
602921000274118	Blau-Syndrom, sporadische Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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