Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5234348013 | CHAPLE (complement hyperactivation, angiopathic thrombosis, protein losing enteropathy) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5234349017 | CHAPLE syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5234350017 | Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5234351018 | Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 14339301000146114 | CHAPLE-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14339311000146111 | syndroom van hyperactivatie van complementsysteem, angiopathische trombose en 'protein-losing' enteropathie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14339321000146118 | syndroom van hyperactivatie van complementsysteem, angiopathische trombose en 'protein-losing' enteropathie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5234352013 | A rare genetic disease characterised by CD55 deficiency with complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy with abdominal pain, diarrhoea, vomiting, primary intestinal lymphangiectasia, hypoproteinaemic oedema and malabsorption leading to anaemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinaemia may also be observed. Caused by homozygous mutation in the CD55 gene on chromosome 1q32. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5234353015 | A rare genetic disease characterized by CD55 deficiency with complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy with abdominal pain, diarrhea, vomiting, primary intestinal lymphangiectasia, hypoproteinemic edema and malabsorption leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed. Caused by homozygous mutation in the CD55 gene on chromosome 1q32. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome | Is a | Decay accelerating factor deficiency | true | Inferred relationship | Some | ||
| Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome | Is a | Gastrointestinal complication | true | Inferred relationship | Some | ||
| Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome | Is a | Protein-losing enteropathy | true | Inferred relationship | Some | ||
| Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome | Due to | Decay accelerating factor deficiency | true | Inferred relationship | Some | 3 | |
| Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome | Finding site | Structure of small intestine (body structure) | true | Inferred relationship | Some | 2 | |
| Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
| Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR