Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5155231018 | Baraitser Winter cerebrofrontofacial syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5155232013 | Baraitser Winter cerebrofrontofacial syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5155233015 | Baraitser-Winter syndrome (BWS) is a malformation syndrome with characteristics of facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos (FA) syndrome) corresponds to the appearance of BWS in elderly patients. BWS and FA were initially considered separate entities. BWS is a genetically heterogeneous disorder, caused by a heterozygous mutation in one of the 2 genes coding for ubiquitously expressed actins: ACTB, located to 7p22-p12 (BRWS1) and ACTG1 on 17q25.3 (BRWS2). All mutations are missense and probably act by a gain of function mechanism, as deletions of the same genes do not result in BWS phenotype. All molecularly confirmed cases are sporadic, with, in theory, an autosomal dominant transmission, but effective transmission has never been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Baraitser Winter cerebrofrontofacial syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Baraitser Winter cerebrofrontofacial syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Baraitser Winter cerebrofrontofacial syndrome (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Baraitser Winter cerebrofrontofacial syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Baraitser Winter cerebrofrontofacial syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Baraitser Winter cerebrofrontofacial syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Baraitser Winter cerebrofrontofacial syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Baraitser Winter cerebrofrontofacial syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Baraitser Winter cerebrofrontofacial syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Baraitser Winter cerebrofrontofacial syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Baraitser Winter cerebrofrontofacial syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR