Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
1720091000168111 | Cutis laxa, corneal clouding and intellectual disability | en | Synonym | Active | Case insensitive | SNOMED Clinical Terms Australian extension |
798074017 | Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
98431015 | Cutis laxa-corneal clouding-oligophrenia syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
98432010 | de Barsey syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
98433017 | Progeroid syndrome of de Barsey | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
98435012 | de Barsey-Moens-Dierckx syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
98436013 | Cutis laxa, corneal clouding AND mental retardation | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
4032946010 | A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Cutis laxa-corneal clouding-oligophrenia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Cutis laxa, autosomal recessive | true | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Congenital corneal opacity | true | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Developmental delay | true | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Joint laxity | true | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Musculoskeletal and connective tissue disorder | true | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Congenital anomaly of face | true | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Arthropathy | true | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Finding site | Corneal structure | true | Inferred relationship | Some | 1 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Associated morphology | Abnormally opaque structure | true | Inferred relationship | Some | 1 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Finding site | Connective tissue structure | true | Inferred relationship | Some | 3 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 4 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Finding site | Joint structure | true | Inferred relationship | Some | 5 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Athetoid movement | true | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Hyperreflexia | true | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Interprets | Reflex | true | Inferred relationship | Some | 6 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Has interpretation | Abnormal | true | Inferred relationship | Some | 6 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Disorder of proline AND/OR hydroxyproline metabolism | true | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 7 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 8 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 8 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Congenital anomaly of head | false | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Intellectual disability | false | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Disorder of skin AND/OR subcutaneous tissue of head | false | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Is a | Cutis laxa | false | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Finding site | Connective tissue structure | false | Inferred relationship | Some | 2 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Occurrence | Congenital | false | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Finding site | Connective tissue | false | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
Cutis laxa-corneal clouding-oligophrenia syndrome | Finding site | Brain structure | false | Inferred relationship | Some | ||
Cutis laxa-corneal clouding-oligophrenia syndrome | 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
Australian dialect reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set