Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5048484011 | Tripeptidyl-peptidase II deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5048485012 | TRIANGLE (TPPII-related immunodeficiency, autoimmunity, neurodevelopmental delay, impaired glycolysis, lysosomal expansion) disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5048486013 | TPPII-related immunodeficiency, autoimmunity and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5048487016 | Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5048488014 | Autoimmune haemolytic anaemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5048489018 | TPPII (tripeptidyl-peptidase II) deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5048490010 | Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5048491014 | Evans syndrome associated with primary immunodeficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400018013 | A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400019017 | A rare genetic immune disease characterised by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinaemia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder) | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder) | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Some | 1 | |
Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder) | Is a | Autoimmune disease | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)