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 |
| 758011000241110 | syndrome de fibrose pulmonaire-déficit immunitaire-dysgénésie gonadique 46,XX (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 982131000172112 | syndrome de fibrose pulmonaire-déficit immunitaire-dysgénésie gonadique 46,XX | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | 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 | 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) | survenue (attribut) | congénital | true | 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 | true | Inferred relationship | Some | 2 | |
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | est un(e) (attribut) | anomalie congénitale du poumon | true | Inferred relationship | Some | ||
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | morphologie associée (attribut) | Fibrosis | true | Inferred relationship | Some | 2 | |
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un poumon | 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) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | est un(e) (attribut) | fibrose pulmonaire | true | Inferred relationship | Some | ||
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | est un(e) (attribut) | Pure gonadal dysgenesis 46,XX | true | Inferred relationship | Some | ||
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | est un(e) (attribut) | Autosomal recessive severe combined immunodeficiency disease (disorder) | true | Inferred relationship | Some | ||
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | est défini par la manifestation de (attribut) | Immune system finding | false | Inferred relationship | Some | ||
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | morphologie associée (attribut) | Fibrosis | false | Inferred relationship | Some | 3 | |
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un poumon | false | Inferred relationship | Some | 3 | |
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | localisation d'une constatation (attribut) | Ovarian endocrine structure | false | Inferred relationship | Some | 4 | |
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | localisation d'une constatation (attribut) | Ovarian endocrine structure | true | Inferred relationship | Some | 3 | |
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | a pour interprétation (attribut) | Decreased | true | Inferred relationship | Some | 1 | |
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) | interprète (attribut) | Hormone secretion | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR