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 |
| 3314861013 | An extremely rare disorder with less than 50 cases reported to date worldwide. The disorder usually has characteristics of marfanoid habitus, craniofacial abnormalities (craniosynostosis, characteristic dysmorphic facial features), skeletal and cardiovascular abnormalities and learning disabilities. Its occurrence is sporadic and mutations in the fibrillin-1 gene have been described in some of these patients. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401946017 | A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401947014 | A rare genetic disorder characterised by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314857019 | Shprintzen Goldberg craniosynostosis syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314858012 | Shprintzen Goldberg craniosynostosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314859016 | Marfanoid craniosynostosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3314860014 | Shprintzen-Goldberg syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Is a | Craniosynostosis syndrome | true | Inferred relationship | Some | ||
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Is a | mental retardering | false | Inferred relationship | Some | ||
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Is a | Marfanoid physique | true | Inferred relationship | Some | ||
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Is a | Connective tissue hereditary disorder | true | Inferred relationship | Some | ||
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Finding site | Bone structure of cranium | false | Inferred relationship | Some | ||
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Interprets | Physique type | true | Inferred relationship | Some | 4 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Associated morphology | kongenit præmatur sammenvoksning | false | Inferred relationship | Some | 5 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Finding site | Joint structure of suture of skull | false | Inferred relationship | Some | 5 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Associated morphology | dysgenese | false | Inferred relationship | Some | 6 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Finding site | Face structure | false | Inferred relationship | Some | 6 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Finding site | Joint structure of suture of skull | true | Inferred relationship | Some | 1 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Associated morphology | kongenit præmatur sammenvoksning | false | Inferred relationship | Some | 1 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Finding site | Connective tissue structure | true | Inferred relationship | Some | 3 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Is a | Musculoskeletal and connective tissue disorder (disorder) | true | Inferred relationship | Some | ||
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Interprets | Intellectual ability | true | Inferred relationship | Some | 5 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and 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