Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Apr 2022. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5035217014 | X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 5035218016 | X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Existential restriction modifier | ||
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Is a | Congenital cerebellar hypoplasia | true | Inferred relationship | Existential restriction modifier | ||
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Is a | Spondyloepiphyseal dysplasia congenita group | true | Inferred relationship | Existential restriction modifier | ||
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Existential restriction modifier | ||
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Finding site | Bone structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier | 1 | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Finding site | Cerebellar structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Associated morphology | Hypoplasia | true | Inferred relationship | Existential restriction modifier | 2 | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Is a | Global developmental delay | true | Inferred relationship | Existential restriction modifier | ||
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 4 | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 4 | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 5 | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR