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 |
| 3437062018 | A rare craniosynostosis syndrome with characteristics of scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. It has been reported in 11 patients from a three-generation family. The patients had variable dysmorphic features including high forehead, marked midface hypoplasia with severe maxillary retrusion, relative or absolute prognathism, and malocclusion. More severely affected patients were male and had intellectual disability. Molecular analysis revealed a K526E mutation of the fibroblast growth factor receptor 2 gene FGFR2. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403358017 | Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403359013 | Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterised by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3437059016 | Familial scaphocephaly syndrome McGillivray type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3437060014 | Familial scaphocephaly syndrome McGillivray type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3437061013 | Scaphocephaly, macrocephaly, maxillary retrusion, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Is a | Skafocefali | false | Inferred relationship | Some | ||
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Is a | Craniosynostosis syndrome | false | Inferred relationship | Some | ||
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Associated morphology | kongenit abnorm form | false | Inferred relationship | Some | 2 | |
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Finding site | Bone structure of cranium | true | Inferred relationship | Some | 2 | |
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Associated morphology | kongenit præmatur sammenvoksning | false | Inferred relationship | Some | 3 | |
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Finding site | Structure of sagittal suture of skull | false | Inferred relationship | Some | 3 | |
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Is a | Interparietal craniosynostosis (disorder) | true | Inferred relationship | Some | ||
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Is a | Congenital abnormality of skull shape | true | Inferred relationship | Some | ||
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Finding site | Structure of sagittal suture of skull | true | Inferred relationship | Some | 1 | |
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Associated morphology | kongenit præmatur sammenvoksning | false | Inferred relationship | Some | 1 | |
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Associated morphology | Abnormal shape (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Is a | Congenital anomaly of bone and joint | true | Inferred relationship | Some | ||
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. | Associated morphology | Premature fusion | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR