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 |
| 13557291000146116 | OAS1-gerelateerde infantiele PAP en hypogammaglobulinemie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13557301000146117 | OAS1-deficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13557311000146115 | OAS1-gerelateerde pulmonale alveolaire proteïnose beginnend op zuigelingenleeftijd en hypogammaglobulinemie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13557321000146113 | pulmonale alveolaire proteïnose beginnend op zuigelingenleeftijd en hypogammaglobulinemie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13557331000146110 | pulmonale alveolaire proteïnose beginnend op zuigelingenleeftijd en hypogammaglobulinemie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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) | Is a | Pulmonary alveolar proteinosis | true | Inferred relationship | Some | ||
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | Is a | Hypogammaglobulinemia | true | Inferred relationship | Some | ||
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | Is a | Primary immune deficiency disorder | true | Inferred relationship | Some | ||
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | Is a | 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) | Interprets | Globulin measurement (procedure) | true | Inferred relationship | Some | 2 | |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | Finding site | Pulmonary alveolar structure (body structure) | true | Inferred relationship | Some | 1 | |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | Associated morphology | Protein deposition | true | Inferred relationship | Some | 1 | |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | Is a | Chronic inflammatory disorder | true | Inferred relationship | Some | ||
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | Is a | Chronic disease of immune function (disorder) | true | Inferred relationship | Some | ||
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | Is a | Chronic lung disease (disorder) | true | Inferred relationship | Some | ||
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | Clinical course | Chronic | true | Inferred relationship | Some | 5 | |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | Associated morphology | Chronic inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR