Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3009183015 | Thiamine transporter-2 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3009257019 | Thiamine metabolism dysfunction syndrome 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3009598010 | Biotin-thiamine-responsive basal ganglia disease (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3009749016 | Biotin-responsive basal ganglia disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3009782018 | Biotin-thiamine-responsive basal ganglia disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Biotin-thiamine-responsive basal ganglia disease (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Biotin-thiamine-responsive basal ganglia disease (disorder) | Is a | Disorder of basal ganglia (disorder) | true | Inferred relationship | Some | ||
| Biotin-thiamine-responsive basal ganglia disease (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Biotin-thiamine-responsive basal ganglia disease (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Biotin-thiamine-responsive basal ganglia disease (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Biotin-thiamine-responsive basal ganglia disease (disorder) | Finding site | Basal ganglion structure (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR