Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3433490013 | X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3433491012 | X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3433492017 | Autoimmune enteropathy type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6170711000146119 | X-gebonden immuundisregulatie-polyendocrinopathie-enteropathie-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6170721000146112 | IPEX-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6170731000146114 | auto-immuunenteropathie type 1 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6170751000146115 | X-gebonden auto-immuunenteropathie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6678751000146117 | syndroom van X-gebonden immunodisregulatie, polyendocrinopathie en enteropathie (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6678761000146119 | syndroom van X-gebonden immunodisregulatie, polyendocrinopathie en enteropathie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3433493010 | A severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement and infections. The syndrome usually develops during the first few days or weeks of life and affects exclusively boys. Caused by mutations in the FOXP3 gene (Xp11.23). This gene codes for a forkhead transcription factor which controls the development and function of CD4+ CD25+ regulatory T cells, a major lymphocyte population involved in downregulation of immune responses and self-tolerance. Transmission is X-linked recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3433494016 | A severe congenital systemic autoimmune disease characterised by refractory diarrhoea, endocrinopathies, cutaneous involvement and infections. The syndrome usually develops during the first few days or weeks of life and affects exclusively boys. Caused by mutations in the FOXP3 gene (Xp11.23). This gene codes for a forkhead transcription factor which controls the development and function of CD4+ CD25+ regulatory T cells, a major lymphocyte population involved in downregulation of immune responses and self-tolerance. Transmission is X-linked recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Associated with | Chromosomal disorder (disorder) | true | Inferred relationship | Some | 3 | |
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Some | ||
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Is a | Immunodeficiency associated with chromosomal abnormality | true | Inferred relationship | Some | ||
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Is a | Autoimmune enteropathy | true | Inferred relationship | Some | ||
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Is a | Autoimmune endocrine disease | true | Inferred relationship | Some | ||
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 4 | |
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Some | 4 | |
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Finding site | Structure of small intestine (body structure) | true | Inferred relationship | Some | 5 | |
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Some | 5 | |
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Is a | Disorder of digestive system specific to fetus OR newborn | false | Inferred relationship | Some | ||
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) | Is a | Congenital disorder of intestine (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR