Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3465074014 | Cyprus facial neuromusculoskeletal syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3465075010 | Cyprus facial neuromusculoskeletal syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3465076011 | The syndrome has been described in a single Greek Cypriot family, over three generations. There have been no further descriptions in the literature since 1992. Affected individuals have a striking facial appearance (described as Mephistophelian) and variable skeletal deformities and neuromuscular abnormalities. The facial appearance consists of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanelle, elevation of the medial portion of the eyebrows bilaterally, hypertelorism, low-set ears, posteriorly rotated ears and widow's peak. Musculoskeletal features may coexist and include congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus and arthrogryposis. Neurological and musculoskeletal defects are severe and incapacitating in some affected family members, while all have normal intelligence. The cause of this syndrome is not known. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Finding site | Structure of musculoskeletal system (body structure) | true | Inferred relationship | Some | 3 | |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Finding site | Structure of nervous system (body structure) | false | Inferred relationship | Some | 4 | |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 5 | |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 2 | |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Cyprus facial neuromusculoskeletal syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR