Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3704217010 | A rare genetic immunodeficiency due to a complement cascade protein anomaly with characteristics of low serum levels of MASP-2 and a variable susceptibility to bacterial infections (for example pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (for example inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic. There is evidence the disease is caused by homozygous mutation in the MASP2 gene on chromosome 1p36. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3704213014 | Immunodeficiency due to MASP-2 (mannan binding lectin serine peptidase 2) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3704214015 | Immunodeficiency due to MASP-2 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3704215019 | Immunodeficiency due to mannan binding lectin serine peptidase 2 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704216018 | Immunodeficiency due to mannan binding lectin serine peptidase 2 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare genetic immunodeficiency due to a complement cascade protein anomaly with characteristics of low serum levels of MASP-2 and a variable susceptibility to bacterial infections (for example pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (for example inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic. There is evidence the disease is caused by homozygous mutation in the MASP2 gene on chromosome 1p36. | Is a | Complement deficiency disease | true | Inferred relationship | Some | ||
| A rare genetic immunodeficiency due to a complement cascade protein anomaly with characteristics of low serum levels of MASP-2 and a variable susceptibility to bacterial infections (for example pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (for example inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic. There is evidence the disease is caused by homozygous mutation in the MASP2 gene on chromosome 1p36. | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR