Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3757832010 | NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757833017 | NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757834011 | FCAS2 - familial cold autoinflammatory syndrome type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757835012 | NLRP12-associated hereditary periodic fever syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757836013 | Familial cold autoinflammatory syndrome type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757839018 | A rare autoinflammatory syndrome with characteristics of episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold. There is evidence the disease is caused by heterozygous mutation in the NLRP12 gene on chromosome 19q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) | est un(e) (attribut) | Hereditary periodic fever (disorder) | true | Inferred relationship | Some | ||
| NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) | morphologie associée (attribut) | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) | évolution clinique (attribut) | récurrent | true | Inferred relationship | Some | 2 | |
| NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) | associé à (attribut) | Fever | false | Inferred relationship | Some | 3 | |
| NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) | interprète (attribut) | Body temperature (observable entity) | true | Inferred relationship | Some | 3 | |
| NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) | localisation d'une constatation (attribut) | structure du système immunitaire | true | Inferred relationship | Some | 1 | |
| NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR