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 (disorder)

\Dermatosis in childhood (disorder)\Sporadic Blau syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Dermatosis in childhood (disorder)\Sporadic Blau syndrome (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)\Sporadic Blau syndrome (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)\Sporadic Blau syndrome (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)\Sporadic Blau syndrome (disorder)

\Finding of head and neck region\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 (disorder)\Uveitis (disorder)\Sporadic Blau syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis (disorder)\Sporadic Blau syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye (disorder)\Uveitis (disorder)\Sporadic Blau syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis (disorder)\Sporadic Blau syndrome (disorder)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye (disorder)\Uveitis (disorder)\Sporadic Blau syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis (disorder)\Sporadic Blau syndrome (disorder)
\Disorder of head (disorder)\Inflammatory disorder of head\Inflammatory disorder of the eye (disorder)\Uveitis (disorder)\Sporadic Blau syndrome (disorder)

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Inflammatory disorder of the eye (disorder)\Uveitis (disorder)\Sporadic Blau syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis (disorder)\Sporadic Blau syndrome (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 (disorder)\Uveitis (disorder)\Sporadic Blau syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis (disorder)\Sporadic Blau syndrome (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)\Sporadic Blau syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome (disorder)
\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 (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Dermatosis in childhood (disorder)\Sporadic Blau syndrome (disorder)

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Arthritis\Blau syndrome\Sporadic Blau syndrome (disorder)
\Musculoskeletal finding\Joint finding\Inflamed joint\Arthritis\Blau syndrome\Sporadic Blau syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Inflammatory disorder of musculoskeletal system\Arthritis\Blau syndrome\Sporadic Blau syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthritis\Blau syndrome\Sporadic Blau syndrome (disorder)

\Disease\Disorder of joint region\Arthropathy (disorder)\Arthritis\Blau syndrome\Sporadic Blau syndrome (disorder)
\Disease\Genetic disease\Blau syndrome\Sporadic Blau syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Blau syndrome\Sporadic Blau syndrome (disorder)
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Arthritis\Blau syndrome\Sporadic Blau syndrome (disorder)
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome (disorder)
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of the eye (disorder)\Uveitis (disorder)\Sporadic Blau syndrome (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)\Sporadic Blau syndrome (disorder)
\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 (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)\Sporadic Blau syndrome (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 (disorder)\Uveitis (disorder)\Sporadic Blau syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis (disorder)\Sporadic Blau syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Inflammatory disorder of musculoskeletal system\Arthritis\Blau syndrome\Sporadic Blau syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthritis\Blau syndrome\Sporadic Blau syndrome (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammatory disorder of head\Inflammatory disorder of the eye (disorder)\Uveitis (disorder)\Sporadic Blau syndrome (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Arthritis\Blau syndrome\Sporadic Blau syndrome (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)\Sporadic Blau syndrome (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of the eye (disorder)\Uveitis (disorder)\Sporadic Blau syndrome (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory disorder of the eye (disorder)\Uveitis (disorder)\Sporadic Blau syndrome (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Arthritis\Blau syndrome\Sporadic Blau syndrome (disorder)
\Disease\Inflammatory disorder\Granulomatous disorder\Blau syndrome\Sporadic Blau syndrome (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 (disorder)\Uveitis (disorder)\Sporadic Blau syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Uveitis (disorder)\Sporadic Blau syndrome (disorder)
\Disease\Disorder of head (disorder)\Inflammatory disorder of head\Inflammatory disorder of the eye (disorder)\Uveitis (disorder)\Sporadic Blau syndrome (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)\Sporadic Blau syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Sporadic Blau syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Dermatosis in childhood (disorder)\Sporadic Blau syndrome (disorder)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sporadic Blau syndrome (disorder)	Due to	Chromosomal disorder (disorder)	false	Inferred relationship	Some	2
Sporadic Blau syndrome (disorder)	Is a	Immunodeficiency associated with chromosomal abnormality	false	Inferred relationship	Some
Sporadic Blau syndrome (disorder)	Is a	Granulomatosis (disorder)	false	Inferred relationship	Some
Sporadic Blau syndrome (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Sporadic Blau syndrome (disorder)	Associated morphology	Granulomatosis	false	Inferred relationship	Some	4
Sporadic Blau syndrome (disorder)	Occurrence	Childhood	false	Inferred relationship	Some	4
Sporadic Blau syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3
Sporadic Blau syndrome (disorder)	Is a	Blau syndrome	true	Inferred relationship	Some
Sporadic Blau syndrome (disorder)	Is a	Uveitis (disorder)	true	Inferred relationship	Some
Sporadic Blau syndrome (disorder)	Is a	Inflammatory dermatosis (disorder)	true	Inferred relationship	Some
Sporadic Blau syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1
Sporadic Blau syndrome (disorder)	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
Sporadic Blau syndrome (disorder)	Occurrence	Childhood	true	Inferred relationship	Some	1
Sporadic Blau syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Sporadic Blau syndrome (disorder)	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	2
Sporadic Blau syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
Sporadic Blau syndrome (disorder)	Finding site	Uveal tract structure	true	Inferred relationship	Some	2
Sporadic Blau syndrome (disorder)	Occurrence	Childhood	true	Inferred relationship	Some	2
Sporadic Blau syndrome (disorder)	Finding site	Joint structure	true	Inferred relationship	Some	3
Sporadic Blau syndrome (disorder)	Occurrence	Childhood	true	Inferred relationship	Some	3
Sporadic Blau syndrome (disorder)	Associated morphology	Granulomatous inflammation	true	Inferred relationship	Some	3
Sporadic Blau syndrome (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
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