Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3643231015 | Lichtenstein syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3643232010 | Lichtenstein syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404135017 | A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404136016 | A rare genetic disease characterised by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Lichtenstein syndrome | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Some | ||
Lichtenstein syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Lichtenstein syndrome | Is a | Phagocytic cell dysfunction | true | Inferred relationship | Some | ||
Lichtenstein syndrome | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
Lichtenstein syndrome | Is a | Disorder of immune structure (disorder) | true | Inferred relationship | Some | ||
Lichtenstein syndrome | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
Lichtenstein syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Lichtenstein syndrome | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set