818950005: Blau syndrome (disorder)

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

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Arthritis\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.
\Musculoskeletal finding\Joint finding\Inflammation of joint (finding)\Arthritis\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.
\Musculoskeletal finding\Disorder of musculoskeletal system\Inflammatory disorder of musculoskeletal system\Arthritis\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.
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthritis\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.

\Disease\Disorder of joint region\Arthropathy (disorder)\Arthritis\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.
\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.
\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.
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Arthritis\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.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Inflammatory disorder of musculoskeletal system\Arthritis\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.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthritis\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.
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Arthritis\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.
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Arthritis\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.
\Disease\Inflammatory 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.

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

3856286015 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3856284017 Blau syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3856285016 Blau syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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.	Is a	Primary immune deficiency disorder	true	Inferred relationship	Some
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.	Is a	Genetic disease	true	Inferred relationship	Some
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.	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1
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.	Is a	Granulomatous disorder	true	Inferred relationship	Some
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.	Is a	Arthritis	true	Inferred relationship	Some
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.	Associated morphology	Granulomatous inflammation	true	Inferred relationship	Some	1
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.	Finding site	Joint structure	true	Inferred relationship	Some	1
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.	Occurrence	Childhood	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	True	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.	Inferred relationship	Some
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.	Is a	True	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.	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
3856286015	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3856284017	Blau syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3856285016	Blau syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core