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1222679006: syndroom van auto-immune interstitiële longziekte en artritis door mutatie in COPA-gen (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5048475011 Autoimmune interstitial lung disease, arthritis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5048476012 COPA (coatomer protein complex subunit alpha) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048477015 Autoimmune interstitial lung disease, arthritis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
13556511000146113 syndroom van auto-immune interstitiële longziekte en artritis door mutatie in COPA-gen nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13556521000146115 COPA-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13556531000146118 syndroom van auto-immune interstitiële longziekte en artritis door mutatie in COPA-gen (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
5048478013 A rare genetic systemic or rheumatologic disease with characteristics of interstitial lung disease (often with pulmonary haemorrhage) and inflammatory arthritis, associated with high-titre autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnoea, cough, haemoptysis, and/or joint pain. Some patients may also develop glomerular disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048479017 A rare genetic systemic or rheumatologic disease with characteristics of interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Is a Interstitial lung disease true Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Is a Seropositive rheumatoid arthritis true Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Is a Musculoskeletal and connective tissue disorder (disorder) true Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Is a Autoimmune connective tissue disorder true Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) true Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Is a Hereditary disorder of immune system true Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Interprets Rheumatoid factor measurement true Inferred relationship Some 3
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Has interpretation Positive false Inferred relationship Some 3
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Finding site Joint structure true Inferred relationship Some 1
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Pathological process (attribute) Autoimmune process true Inferred relationship Some 1
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Finding site Structure of interstitial tissue of lung true Inferred relationship Some 2
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Pathological process (attribute) Autoimmune process true Inferred relationship Some 2
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Has interpretation Detected true Inferred relationship Some 3
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Is a Type I interferonopathy true Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Finding site Structure of immune system (body structure) true Inferred relationship Some 4
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 4
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Pathological process (attribute) Autoimmune process true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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