Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4696480011 | 2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4696481010 | OAS1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4696482015 | Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4696483013 | OAS1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4696484019 | Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4696485018 | 2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4696486017 | Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4696487014 | A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4696488016 | A rare genetic respiratory disease characterised by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinaemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leucocytosis and splenomegaly. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | est un(e) (attribut) | Pulmonary alveolar proteinosis | true | Inferred relationship | Some | ||
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | est un(e) (attribut) | Hypogammaglobulinemia | true | Inferred relationship | Some | ||
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | est un(e) (attribut) | Primary immune deficiency disorder (disorder) | true | Inferred relationship | Some | ||
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | est un(e) (attribut) | Genetic disease | true | Inferred relationship | Some | ||
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 4 | |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | interprète (attribut) | Globulin measurement | true | Inferred relationship | Some | 2 | |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 2 | |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | survenue (attribut) | Infancy (qualifier value) | true | Inferred relationship | Some | 1 | |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | localisation d'une constatation (attribut) | Pulmonary alveolar structure | true | Inferred relationship | Some | 1 | |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | morphologie associée (attribut) | Protein deposition (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | est un(e) (attribut) | Chronic inflammatory disorder | true | Inferred relationship | Some | ||
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | est un(e) (attribut) | maladie chronique de la fonction immunitaire | true | Inferred relationship | Some | ||
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | est un(e) (attribut) | maladie pulmonaire chronique | true | Inferred relationship | Some | ||
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | évolution clinique (attribut) | chronique | true | Inferred relationship | Some | 5 | |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | morphologie associée (attribut) | Chronic inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR