Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3331456010 | Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331457018 | Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331458011 | An extremely rare autosomal dominant immunological disorder with characteristics of variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty and osteoporosis/osteopenia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
1003001000172119 | syndrome d'entéropathie et endocrinopathie auto-immunes-susceptibilité aux infections chroniques | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Due to | Chromosomal disorder (disorder) | true | Inferred relationship | Some | 3 | |
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Some | ||
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Is a | Immunodeficiency associated with chromosomal abnormality | true | Inferred relationship | Some | ||
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Is a | Autoimmune enteropathy | true | Inferred relationship | Some | ||
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Is a | Autoimmune endocrine disease | true | Inferred relationship | Some | ||
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Some | 5 | |
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Some | 6 | |
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Finding site | Structure of small intestine (body structure) | true | Inferred relationship | Some | 5 | |
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 6 | |
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Is a | Gastrointestinal complication | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets