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 |
| 3304761013 | A basal ganglia disorder with manifestation of parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter. | 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 | retard mental | 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 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR