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699861000: 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:

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
2985949013 Early onset sarcoidosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2985959014 Arthrocutaneouveal granulamotosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 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
2986110019 Blau syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2986110019 Blau syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2988823015 Familial granulomatous inflammatory arthritis, dermatitis and uveitis en Synonym (core metadata concept) Active Only initial character 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 Only initial character 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 Only initial character 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
516611000274113 Familiäre Form der granulomatösen inflammatorischen Arthritis, Dermatitis und Uveitis de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
599971000274118 Granulomatöse Arthritis des Kindesalters, familiäre Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5439841000241117 arthrite inflammatoire granulomateuse familiale précoce, dermatite et uvéite fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5439841000241117 arthrite inflammatoire granulomateuse familiale précoce, dermatite et uvéite fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
516611000274113 Familiäre Form der granulomatösen inflammatorischen Arthritis, Dermatitis und Uveitis de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
599971000274118 Granulomatöse Arthritis des Kindesalters, familiäre Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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