Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3446392010 | X-linked intellectual disability Brooks type (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3446393017 | X-linked intellectual disability Brooks type | en | Synonym | Active | Case sensitive | SNOMED CT core |
3446394011 | Brooks Wisniewski Brown syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3446395012 | A rare X-linked intellectual disability syndrome with characteristics of failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures. | en | Definition | Inactive | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked intellectual disability Brooks type | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability Brooks type | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
X-linked intellectual disability Brooks type | Interprets | Intellectual ability | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability Brooks type | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability Brooks type | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 3 | |
X-linked intellectual disability Brooks type | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
X-linked intellectual disability Brooks type | Is a | Intellectual disability | false | Inferred relationship | Some | ||
X-linked intellectual disability Brooks type | Is a | X-linked hereditary disease | true | Inferred relationship | Some | ||
X-linked intellectual disability Brooks type | Is a | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set