Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 40055016 | Sandhoff disease | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 40057012 | GM>2< gangliosidosis, type 2 | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 40058019 | Hexosaminidase A AND B deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 481740011 | Total hexosaminidase deficiency | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 481741010 | O variant | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 753417017 | Sandhoff disease (disorder) | en | Fully specified name | Active | Entire term case sensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Sandhoff disease | Is a | GM2 gangliosidosis | true | Inferred relationship | Existential restriction modifier | ||
| Sandhoff disease | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Sandhoff disease | Finding site | Structure of nervous system | true | Inferred relationship | Existential restriction modifier | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Total hexosaminidase deficiency - infantile | Is a | True | Sandhoff disease | Inferred relationship | Existential restriction modifier | |
| Total hexosaminidase deficiency - juvenile | Is a | True | Sandhoff disease | Inferred relationship | Existential restriction modifier | |
| Total hexosaminidase deficiency - adult | Is a | True | Sandhoff disease | Inferred relationship | Existential restriction modifier |
This concept is not in any reference sets
FHIR