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 |
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 |
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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Familial scaphocephaly syndrome McGillivray type (disorder) | Is a | Scaphycephaly | false | Inferred relationship | Some | ||
Familial scaphocephaly syndrome McGillivray type (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Familial scaphocephaly syndrome McGillivray type (disorder) | Is a | Craniosynostosis syndrome | false | Inferred relationship | Some | ||
Familial scaphocephaly syndrome McGillivray type (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Familial scaphocephaly syndrome McGillivray type (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Familial scaphocephaly syndrome McGillivray type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Familial scaphocephaly syndrome McGillivray type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Familial scaphocephaly syndrome McGillivray type (disorder) | Associated morphology | Congenital abnormal shape | false | Inferred relationship | Some | 2 | |
Familial scaphocephaly syndrome McGillivray type (disorder) | Finding site | Bone structure of cranium | true | Inferred relationship | Some | 2 | |
Familial scaphocephaly syndrome McGillivray type (disorder) | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 3 | |
Familial scaphocephaly syndrome McGillivray type (disorder) | Finding site | Structure of sagittal suture of skull | false | Inferred relationship | Some | 3 | |
Familial scaphocephaly syndrome McGillivray type (disorder) | Is a | Interparietal craniosynostosis (disorder) | true | Inferred relationship | Some | ||
Familial scaphocephaly syndrome McGillivray type (disorder) | Is a | Congenital abnormality of skull shape | true | Inferred relationship | Some | ||
Familial scaphocephaly syndrome McGillivray type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Familial scaphocephaly syndrome McGillivray type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Familial scaphocephaly syndrome McGillivray type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Familial scaphocephaly syndrome McGillivray type (disorder) | Finding site | Structure of sagittal suture of skull | true | Inferred relationship | Some | 1 | |
Familial scaphocephaly syndrome McGillivray type (disorder) | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 1 | |
Familial scaphocephaly syndrome McGillivray type (disorder) | Associated morphology | Abnormal shape (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Familial scaphocephaly syndrome McGillivray type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Familial scaphocephaly syndrome McGillivray type (disorder) | Is a | Congenital anomaly of bone and joint | true | Inferred relationship | Some | ||
Familial scaphocephaly syndrome McGillivray type (disorder) | 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)