Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3323060017 | Postaxial polydactyly and intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323061018 | Postaxial polydactyly and intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323062013 | Oliver syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6739691000146116 | syndroom van postaxiale polydactylie en mentale retardatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6943121000146115 | syndroom van Oliver | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7495011000146116 | syndroom van postaxiale polydactylie en verstandelijke beperking (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7718991000146113 | syndroom van postaxiale polydactylie en verstandelijke beperking | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7863511000146117 | syndroom van postaxiale polydactylie en verstandelijke handicap | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3323063015 | A very rare syndrome with characteristics of intellectual deficit, postaxial polydactyly and epilepsy. To date, seven individuals in three families have been reported. Facial features are not characteristic except for a prominent jaw. Concordant features in all subjects are postaxial polydactyly, which in four individuals affect also the feet, and intellectual deficit, which is usually severe, with absent or indistinct speech. Seizures are common with onset in the first months of life or in early childhood. Cutaneous syndactyly, camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes have been recorded. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Is a | mentale retardatie | false | Inferred relationship | Some | ||
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Is a | Dysostosis | true | Inferred relationship | Some | ||
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Is a | Polydactyly (disorder) | true | Inferred relationship | Some | ||
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Associated morphology | Supernumerary structure | false | Inferred relationship | Some | 3 | |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Finding site | Digit structure | false | Inferred relationship | Some | 3 | |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Finding site | Digit structure | true | Inferred relationship | Some | 1 | |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Associated morphology | Supernumerary structure | true | Inferred relationship | Some | 1 | |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Postaxial polydactyly and intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR