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 |
| 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 | Inactive | 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403292016 | A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403293014 | A rare immunodysregulatory disease characterised by refractory diarrhoea, endocrinopathies, cutaneous involvement, and infections. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Associated with | Chromosomal disorder (disorder) | true | Inferred relationship | Some | 3 | |
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Some | ||
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Is a | X-linked hereditary disease (disorder) | false | Inferred relationship | Some | ||
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Is a | Immunodeficiency associated with chromosomal abnormality | true | Inferred relationship | Some | ||
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Is a | Autoimmune enteropathy | true | Inferred relationship | Some | ||
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Is a | Autoimmune endocrine disease | true | Inferred relationship | Some | ||
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 4 | |
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Some | 4 | |
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Finding site | Structure of small intestine (body structure) | true | Inferred relationship | Some | 5 | |
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Some | 5 | |
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. | Is a | Disorder of digestive system specific to fetus OR newborn | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR