Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3306452010 | Atypical Rett syndrome (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
3312131019 | Atypical Rett syndrome | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3312132014 | A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfil all the diagnostic criteria for typical Rett syndrome. Several subvariants have been defined; the early-onset seizure type (Hanefeld), congenital variant (Rolando), the 'forme fruste' type, the late childhood regression form and the preserved speech variant (PSD or Zappella variant). Diagnosis relies on clinical evaluation using the diagnostic criteria for atypical Rett originally defined by Hagberg in 1994: an atypical case must meet at least three of the six main criteria and at least five of the eleven supportive criteria. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Atypical Rett syndrome | Is a | X-linked hereditary disease | true | Inferred relationship | Some | ||
Atypical Rett syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Atypical Rett syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Atypical Rett syndrome | Is a | Hereditary disease | false | Inferred relationship | Some | ||
Atypical Rett syndrome | Is a | Pervasive developmental disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Mental health disorder reference set
Problem/Diagnosis reference set