Status: current, Primitive. 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 | Initial character case insensitive | SNOMED CT core |
3330002017 | Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3330007011 | This 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 | Case sensitive | SNOMED CT core |
3330008018 | This 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Is a | Congenital anomaly of lung | true | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Associated morphology | Fibrosis | true | Inferred relationship | Some | 2 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Finding site | Lung structure | true | Inferred relationship | Some | 2 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Pathological process | Abnormal immune process | true | Inferred relationship | Some | 4 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Is a | Pulmonary fibrosis | true | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Is a | Pure gonadal dysgenesis 46,XX | true | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Is a | Autosomal recessive SCID (severe combined immunodeficiency disease) | true | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Associated morphology | Fibrosis | false | Inferred relationship | Some | 3 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Finding site | Lung structure | false | Inferred relationship | Some | 3 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 4 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Finding site | Ovarian endocrine structure | false | Inferred relationship | Some | 4 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Finding site | Ovarian endocrine structure | true | Inferred relationship | Some | 3 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Has interpretation | Decreased | true | Inferred relationship | Some | 1 | |
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | Interprets | Hormone secretion | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Respiratory finding reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set