Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1235341014 | Sanfilippo disease | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 1235342019 | Mucopolysaccharidosis type III | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 146555015 | Sanfilippo syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 201403015 | Mucopolysaccharidosis, MPS-III | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 831067017 | Sanfilippo syndrome (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Sanfilippo syndrome | Is a | Mucopolysaccharidosis | true | Inferred relationship | Some | ||
| Sanfilippo syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Sanfilippo syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Sanfilippo syndrome | Finding site | Body system structure | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Mucopolysaccharidosis, MPS-III-D | Is a | True | Sanfilippo syndrome | Inferred relationship | Some | |
| Mucopolysaccharidosis, MPS-III-A | Is a | True | Sanfilippo syndrome | Inferred relationship | Some | |
| Mucopolysaccharidosis, MPS-III-B | Is a | True | Sanfilippo syndrome | Inferred relationship | Some | |
| Mucopolysaccharidosis, MPS-III-C | Is a | True | Sanfilippo syndrome | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR