Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3452240013 | X-linked intellectual disability Hedera type (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3452241012 | X-linked intellectual disability Hedera type | en | Synonym | Active | Case sensitive | SNOMED CT core |
3452242017 | A rare X-linked intellectual disability syndrome characterized by onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks and mild to moderate intellectual disability. Additional less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance) and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. | en | Definition | Active | Case sensitive | SNOMED CT core |
3452243010 | A rare X-linked intellectual disability syndrome characterised by onset in infancy of delayed motor and speech milestones, generalised tonic-clonic seizures and drop attacks and mild to moderate intellectual disability. Additional less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance) and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked intellectual disability Hedera type | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability Hedera type | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
X-linked intellectual disability Hedera type | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
X-linked intellectual disability Hedera type | Interprets | Intellectual ability | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability Hedera type | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability Hedera type | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 3 | |
X-linked intellectual disability Hedera type | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
X-linked intellectual disability Hedera type | Is a | Intellectual disability | false | Inferred relationship | Some | ||
X-linked intellectual disability Hedera type | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked intellectual disability Hedera 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
Description inactivation indicator reference set