Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3304757019 | Early onset parkinsonism and intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3304758012 | Early onset parkinsonism and intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3304759016 | Laxova Opitz syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3304760014 | Waisman syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401228016 | A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401229012 | A rare X-linked syndromic intellectual disability characterised by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Early onset parkinsonism and intellectual disability syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
Early onset parkinsonism and intellectual disability syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
Early onset parkinsonism and intellectual disability syndrome (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Early onset parkinsonism and intellectual disability syndrome (disorder) | Is a | Young onset Parkinson disease (disorder) | true | Inferred relationship | Some | ||
Early onset parkinsonism and intellectual disability syndrome (disorder) | Finding site | Basal ganglion structure (body structure) | true | Inferred relationship | Some | 2 | |
Early onset parkinsonism and intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Early onset parkinsonism and intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Early onset parkinsonism and intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Early onset parkinsonism and intellectual disability syndrome (disorder) | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
Early onset parkinsonism and intellectual disability syndrome (disorder) | Causative agent | Alpha-synuclein | false | Inferred relationship | Some | 2 | |
Early onset parkinsonism and intellectual disability syndrome (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
Early onset parkinsonism and intellectual disability syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 4 | |
Early onset parkinsonism and intellectual disability syndrome (disorder) | Has interpretation | Slow | true | Inferred relationship | Some | 4 | |
Early onset parkinsonism and intellectual disability syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
Early onset parkinsonism and intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
Early onset parkinsonism and intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Early onset parkinsonism and intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
Early onset parkinsonism and intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Early onset parkinsonism and intellectual disability syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)