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42111000175103: Autoinflammatory disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5073576017 Autoinflammatory disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5073577014 Autoinflammatory syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5073583012 Autoinflammatory disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5073576017 Autoinflammatory disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5073577014 Autoinflammatory syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5073583012 Autoinflammatory disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

63 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autoinflammatory disease Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autoinflammatory disease Is a Disorder of immune function (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autoinflammatory disease Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autoinflammatory disease Is a Inflammatory disorder of immune system true Inferred relationship Existential restriction modifier (core metadata concept)
Autoinflammatory disease Finding site Structure of immune system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Autoinflammation, lipodystrophy and dermatosis syndrome (disorder) Is a False Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
Yao syndrome Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
Monogenic autoinflammatory syndrome (disorder) Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
Pyoderma gangrenosum, acne, suppurative hidradenitis syndrome (disorder) Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
Infantile onset panniculitis with uveitis and systemic granulomatosis (disorder) Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal inflammatory skin and bowel disease Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic autoinflammatory syndrome with immune deficiency disease characterised by recurrent and severe flares of generalised pustular psoriasis associated with high fever, asthenia and systemic inflammation due to IL36R antagonist deficiency. Psoriatic nail changes (for example pitting and onychomadesis) and ichthyosis may occasionally be associated. Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
Mouth and genital ulcers with inflamed cartilage syndrome (disorder) Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
Ubiquitin specific peptidase 18 deficiency (disorder) Is a False Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
An autoinflammatory syndrome that is not associated with a single, identified genetic mutation. Genetic categorisation of the syndrome may be complicated due to the involvement of multiple genes. Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
SAPHO syndrome Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
Keratitis fugax hereditaria Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
PAPASH syndrome Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
PASS syndrome Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare autoinflammatory syndrome with characteristics of the combination of psoriatic arthritis, pyoderma gangrenosum, acne, and suppurative hidradenitis (which, in addition to axillae and inguinal folds, can be observed in other areas, such as the buttocks or labia majora). Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare immunodeficiency syndrome with autoimmunity characterized by early-onset autoimmune and autoinflammatory manifestations due to SOCS1 haploinsufficiency. Patients present with variable phenotypes including hyper IgE-like syndrome with eczema and purulent infections, eosinophilic allergic alveolitis, common variable immunodeficiency-like phenotype with hypogammaglobulinemia, chronic autoimmune cytopenia, T-cell lymphopenia, granulomatous lymphocytic interstitial lung disease, systemic lupus erythematosus and malignancy. Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder) Is a True Autoinflammatory disease Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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