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 |
3330001012 | Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3330002017 | Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5402756010 | Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402757018 | Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridisation analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Is a | Fibrosis of lung | true | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Is a | Pure gonadal dysgenesis 46,XX | true | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Is a | Autosomal recessive severe combined immunodeficiency disease (disorder) | true | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Associated morphology | Fibrosis | false | Inferred relationship | Some | 3 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Finding site | Lung structure | false | Inferred relationship | Some | 3 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Finding site | Ovarian endocrine structure | false | Inferred relationship | Some | 4 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Finding site | Ovarian endocrine structure | true | Inferred relationship | Some | 3 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 1 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Interprets | Hormone secretion | true | Inferred relationship | Some | 1 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Is a | Congenital anomaly of lung | false | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Associated morphology | Fibrosis | true | Inferred relationship | Some | 2 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Finding site | Lung structure | true | Inferred relationship | Some | 2 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 4 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | Is a | T-cell negative B-cell positive severe combined immunodeficiency (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)