Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755710013 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3755712017 | Congenital muscular dystrophy with intellectual disability and severe epilepsy (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3755714016 | Congenital disorder of glycosylation type 1u | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3755716019 | Carbohydrate deficient glycoprotein syndrome type 1u | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Is a | Carbohydrate-deficient glycoprotein syndrome type I | true | Inferred relationship | Existential restriction modifier | ||
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Existential restriction modifier | ||
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Is a | Refractory epilepsy | true | Inferred relationship | Existential restriction modifier | ||
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Is a | Congenital hereditary muscular dystrophy | true | Inferred relationship | Existential restriction modifier | ||
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Is a | Chronic metabolic disorder | true | Inferred relationship | Existential restriction modifier | ||
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Is a | Chronic brain syndrome | true | Inferred relationship | Existential restriction modifier | ||
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Is a | Chronic mental disorder | false | Inferred relationship | Existential restriction modifier | ||
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Clinical course | Progressive | true | Inferred relationship | Existential restriction modifier | 3 | |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Associated morphology | Dystrophy | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Finding site | Structure of cerebrum | true | Inferred relationship | Existential restriction modifier | 2 | |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Finding site | Skeletal muscle structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 4 | |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 4 | |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 5 | |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 | |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR