Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3498448019 | Static encephalopathy of childhood with neurodegeneration in adulthood | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498449010 | BPAN - beta-propeller protein-associated neurodegeneration | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3498450010 | Beta-propeller protein-associated neurodegeneration (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498451014 | Beta-propeller protein-associated neurodegeneration | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498452019 | Neurodegeneration with brain iron accumulation type 5 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 762761000241115 | neurodégénérescence associée à une protéine bêta-propeller (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 895501000172112 | BPAN - beta-propeller protein-associated neurodegeneration | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 901521000172112 | neurodégénérescence associée à une protéine bêta-propeller | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3499927018 | A rare form of neurodegeneration with brain iron accumulation (NBIA) with characteristics of early-onset developmental delay and further neurological deterioration in early adulthood. Caused by de novo heterozygous or hemizygous mutation in the WDR45 gene on chromosome Xp11. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Beta-propeller protein-associated neurodegeneration (disorder) | est un(e) (attribut) | Iron overload | true | Inferred relationship | Some | ||
| Beta-propeller protein-associated neurodegeneration (disorder) | est un(e) (attribut) | X-linked hereditary disease | true | Inferred relationship | Some | ||
| Beta-propeller protein-associated neurodegeneration (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Beta-propeller protein-associated neurodegeneration (disorder) | Causative agent | Iron AND/OR iron compound | false | Inferred relationship | Some | 1 | |
| Beta-propeller protein-associated neurodegeneration (disorder) | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 1 | |
| Beta-propeller protein-associated neurodegeneration (disorder) | Causative agent | Iron and/or iron compound | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR