Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3313786018 | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3313787010 | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3313788017 | Spondyloepiphyseal dysplasia Nishimura type | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Is a | Craniosynostosis syndrome | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Is a | Cleft palate | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Is a | Mental retardation | false | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Is a | Congenital anomaly of bone and joint | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Is a | Spondyloepiphyseal dysplasia congenita group | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Is a | Digestive system hereditary disorder | false | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Finding site | Bone structure of cranium | false | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 6 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 7 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 8 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Associated morphology | Congenital premature fusion | false | Inferred relationship | Existential restriction modifier | 6 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Finding site | Joint structure of suture of skull | false | Inferred relationship | Existential restriction modifier | 6 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Finding site | Structure of lens of eye | false | Inferred relationship | Existential restriction modifier | 7 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Existential restriction modifier | 8 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Finding site | Bone structure | false | Inferred relationship | Existential restriction modifier | 8 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Is a | Congenital cataract | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 5 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Associated morphology | Congenital cataract | false | Inferred relationship | Existential restriction modifier | 7 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Existential restriction modifier | 5 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Finding site | Palatal structure | false | Inferred relationship | Existential restriction modifier | 5 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Associated morphology | Developmental failure of fusion | true | Inferred relationship | Existential restriction modifier | 1 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Finding site | Palatal structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 4 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Finding site | Structure of lens of eye | true | Inferred relationship | Existential restriction modifier | 2 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Existential restriction modifier | 3 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Associated morphology | Congenital premature fusion | true | Inferred relationship | Existential restriction modifier | 4 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Finding site | Joint structure of suture of skull | true | Inferred relationship | Existential restriction modifier | 4 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 4 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Finding site | Bone structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Associated morphology | Cataract | false | Inferred relationship | Existential restriction modifier | 2 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier | 3 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Associated morphology | Abnormally opaque structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Associated morphology | Developmental failure of fusion | false | Inferred relationship | Existential restriction modifier | 5 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Pathological process | Pathological developmental process | false | Inferred relationship | Existential restriction modifier | 5 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Finding site | Bone structure of head | false | Inferred relationship | Existential restriction modifier | 5 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 5 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 6 | |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR