Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3303628018 | Encephalopathy due to sulfite oxidase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303629014 | Encephalopathy due to sulfite oxidase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304304018 | Encephalopathy due to sulphite oxidase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 749001000241119 | encéphalopathie par déficit en sulfite oxydase (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 944841000172114 | encéphalopathie par déficit en sulfite oxydase | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3304305017 | A rare neurometabolic disorder with features of seizures, progressive encephalopathy and lens dislocation. The prevalence is unknown but is very rare. Symptoms usually occur within the first week after birth with feeding difficulties, vomiting and seizures which are difficult to control. The majority of patients exhibit facial dysmorphism. The course is progressive, with spasticity, severe intellectual deficit, and microcephaly seen in survivors. Lens dislocation usually occurs late in infancy but has been observed as early as two months of age. A late onset form with a milder phenotype has also been described. Caused by a mutation in the SUOX gene (12q13.13). The disease follows an autosomal recessive pattern of inheritance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Encephalopathy due to sulfite oxidase deficiency (disorder) | est un(e) (attribut) | Anomaly of eye (disorder) | true | Inferred relationship | Some | ||
| Encephalopathy due to sulfite oxidase deficiency (disorder) | est un(e) (attribut) | complication liée au système nerveux central | true | Inferred relationship | Some | ||
| Encephalopathy due to sulfite oxidase deficiency (disorder) | Due to | Sulfite oxidase deficiency | true | Inferred relationship | Some | 1 | |
| Encephalopathy due to sulfite oxidase deficiency (disorder) | est un(e) (attribut) | Disorder of lens | true | Inferred relationship | Some | ||
| Encephalopathy due to sulfite oxidase deficiency (disorder) | est un(e) (attribut) | Disorder of brain (disorder) | true | Inferred relationship | Some | ||
| Encephalopathy due to sulfite oxidase deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Encephalopathy due to sulfite oxidase deficiency (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Encephalopathy due to sulfite oxidase deficiency (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Encephalopathy due to sulfite oxidase deficiency (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 2 | |
| Encephalopathy due to sulfite oxidase deficiency (disorder) | morphologie associée (attribut) | Dislocation | true | Inferred relationship | Some | 3 | |
| Encephalopathy due to sulfite oxidase deficiency (disorder) | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR