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 |
| 3318066010 | A syndrome with characteristics of immune deficiency and neurological disorders in females and neonatal death in males. The syndrome has been described in only one family with nine affected individuals (five males and four females) spanning two generations. Symptomatic females present slowly progressive proximal muscle weakness, leg hyperreflexia, pes cavus, increased muscle tone in the legs, poor bladder function, static reduced night vision and frequent sinopulmonary infections associated with IgG2 deficiency. Males present with low birth weight and severe hypotonia that leads to death in the neonatal period. The gene locus has been mapped to Xq26-qter. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402241019 | X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402242014 | X-linked immunoneurologic disorder is characterised by immune deficiency and neurological disorders in females, and by neonatal death in males. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318063019 | X-linked immunoneurologic disorder (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318064013 | X-linked immunoneurologic disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318065014 | Woods Black Norbury syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. | Due to | Chromosomal disorder (disorder) | false | Inferred relationship | Some | 1 | |
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. | Is a | X-linked hereditary disease (disorder) | false | Inferred relationship | Some | ||
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. | Is a | Immunodeficiency associated with chromosomal abnormality | false | Inferred relationship | Some | ||
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 2 | |
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. | Is a | X-linked dominant hereditary disease (disorder) | true | Inferred relationship | Some | ||
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. | Is a | Primary immune deficiency disorder | true | Inferred relationship | Some | ||
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. | Is a | Disorder of immune structure (disorder) | true | Inferred relationship | Some | ||
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR