699861000: Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)

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

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

\Inflammatory dermatosis (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)

\Dermatosis in childhood (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Inflammatory disorder of head\Inflammatory disorder of the eye\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)

\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Dermatosis in childhood (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\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)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\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)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\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)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Dermatosis in childhood (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Dermatosis in childhood (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\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.\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\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.\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\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.\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\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.\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of the eye\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\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)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Dermatosis in childhood (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\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.\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\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.\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammatory disorder of head\Inflammatory disorder of the eye\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\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.\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of the eye\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory dermatosis (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory disorder of the eye\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\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.\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\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.\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of head (disorder)\Inflammatory disorder of head\Inflammatory disorder of the eye\Uveitis\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Dermatosis in childhood (disorder)\Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	Granulomatosis (disorder)	false	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Associated morphology	Granulomatosis	false	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Due to	Chromosomal disorder (disorder)	false	Inferred relationship	Some	1
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	Immunodeficiency associated with chromosomal abnormality	false	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Associated morphology	Granulomatosis	false	Inferred relationship	Some	2
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Occurrence	Childhood	true	Inferred relationship	Some	1
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	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.	true	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Associated morphology	Granulomatous inflammation	true	Inferred relationship	Some	1
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Finding site	Joint structure	true	Inferred relationship	Some	1
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	Uveitis	true	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	Inflammatory dermatosis (disorder)	true	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	2
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Finding site	Uveal tract structure	true	Inferred relationship	Some	2
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Occurrence	Childhood	true	Inferred relationship	Some	2
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	3
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	3
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Occurrence	Childhood	true	Inferred relationship	Some	3
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	Dermatosis in childhood (disorder)	true	Inferred relationship	Some

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
2985959014	Arthrocutaneouveal granulamotosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2986000014	Familial juvenile systemic granulomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2986046014	Familial granulomatosis, Blau type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2986076019	Pediatric granulomatous arthritis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2988823015	Familial granulomatous inflammatory arthritis, dermatitis and uveitis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2988834017	Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2988902010	Granulomatous inflammatory arthritis, dermatitis and uveitis, familial	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3856287012	Paediatric granulomatous arthritis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core