Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 356761010 | B1 variant hexosaminidase A deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 626845014 | B1 variant hexosaminidase A deficiency (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| B1 variant hexosaminidase A deficiency | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 2 | |
| B1 variant hexosaminidase A deficiency | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| B1 variant hexosaminidase A deficiency | est un(e) (attribut) | Tay-Sachs disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR