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) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Early onset parkinsonism and intellectual disability syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Early onset parkinsonism and intellectual disability syndrome (disorder) | est un(e) (attribut) | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| Early onset parkinsonism and intellectual disability syndrome (disorder) | Causative agent | alpha-synucléine | false | Inferred relationship | Some | 2 | |
| Early onset parkinsonism and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
| Early onset parkinsonism and intellectual disability syndrome (disorder) | interprète (attribut) | Movement (observable entity) | true | Inferred relationship | Some | 4 | |
| Early onset parkinsonism and intellectual disability syndrome (disorder) | a pour interprétation (attribut) | lent | true | Inferred relationship | Some | 4 | |
| Early onset parkinsonism and intellectual disability syndrome (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Early onset parkinsonism and intellectual disability syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Early onset parkinsonism and intellectual disability syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Early onset parkinsonism and intellectual disability syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Early onset parkinsonism and intellectual disability syndrome (disorder) | est un(e) (attribut) | maladie de Parkinson à début précoce | true | Inferred relationship | Some | ||
| Early onset parkinsonism and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Basal ganglion structure (body structure) | true | Inferred relationship | Some | 2 | |
| Early onset parkinsonism and intellectual disability syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR