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 |
| 3315197011 | X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive | SNOMED CT core module |
| 3315198018 | X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Is a | Mental retardation | false | Inferred relationship | Existential restriction modifier | ||
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Is a | X-linked hereditary disease | false | Inferred relationship | Existential restriction modifier | ||
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 1 | |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Existential restriction modifier | ||
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 2 | |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 2 | |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 3 | |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR