818950005: Blau syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Musculoskeletal finding\Joint finding\Arthropathy\Arthritis\Blau syndrome
• \Musculoskeletal finding\Joint finding\Inflamed joint\Arthritis\Blau syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Inflammatory disorder of musculoskeletal system\Arthritis\Blau syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Arthritis\Blau syndrome
• \Disease\Disorder of joint region\Arthropathy\Arthritis\Blau syndrome
• \Disease\Genetic disease\Blau syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Blau syndrome
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Arthritis\Blau syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Inflammatory disorder of musculoskeletal system\Arthritis\Blau syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Arthritis\Blau syndrome
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Arthritis\Blau syndrome
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Arthritis\Blau syndrome
• \Disease\Inflammatory disorder\Granulomatous disorder\Blau syndrome

Status: current, Primitive. Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3856284017	Blau syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3856285016	Blau syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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